Hanseníase na atenção básica: saberes e práticas dos profissionais da Estratégia Saúde da Família / Leprosy in primary care: knowledge and practices of professionals in the Family Health Strategy

O objetivo deste estudo é descrever a capacitação de profissionais de saúde na avaliação dermatoneurológica e do grau de incapacidade física em hanseníase, realizada em um posto de Saúde. Trata-se de uma Pesquisa-ação desenvolvida de maio a agosto de 2019 com médicos, enfermeiros e fisioterapeuta da atenção básica. Foi utilizado para coleta de dados questionário autoaplicado, através da plataforma Google Forms, gravação audiovisual e registro em diário de campo durante as oficinas teóricas e práticas. O processo interpretativo deu-se através da análise de conteúdo. Inicialmente, foi realizado o diagnóstico situacional, no qual os profissionais relataram insegurança e deficiência tanto no conhecimento como na habilidade para o atendimento ao paciente com hanseníase. Além disso, não participaram de capacitações acerca do tema. Foram realizadas oficinas para desenvolver competências necessárias. A avaliação das oficinas mostrou uma melhoria do conhecimento e das práticas de cuidado aos usuários durante o estudo. É importante o incentivo às capacitações periódicas dos profissionais de saúde da atenção básica. Além disso, incluir na prática o monitoramento sistemático dos casos novos, busca ativa de casos suspeitos e dos contatos da pessoa com hanseníase. Para que se interrompa a cadeia de transmissão, faz-se necessária a adoção dessas práticas a fim de controlar os casos de hanseníase.

The aim of this study is to describe the training of health professionals in the dermatoneurological assessment and the degree of physical disability in leprosy performed at a health center. This is an action research developed from may to august 2019 with doctors, nurses and physical therapists in primary care. A self-administered questionnaire was used for data collection, through the google forms platform, audiovisual recording and field diary recording during the theoretical and practical workshops. The interpretive process took place through content analysis. Initially, the situational diagnosis was carried out, where professionals reported insecurity and deficiency in both knowledge and ability to care for patients with leprosy. In addition, they did not participate in training on the subject. Workshops were held to develop necessary skills. The evaluation of the workshops showed an improvement in knowledge and care practices for users during the study. It is important to encourage periodic training of primary care health professionals. Include in practice the systematic monitoring of new cases, active search for suspected cases and contacts of the person with leprosy. In order to interrupt the chain of transmission, it is necessary to adopt these practices in order to control leprosy cases.

Diagnosis and treatment of rosacea in the real world: a survey on the current status / 中华皮肤科杂志

Objective:To analyze the current status of diagnosis and treatment of rosacea in China, and to strengthen the understanding and management of this disease.Methods:A retrospective cross-sectional study was conducted, and patients with rosacea were enrolled from 23 tertiary hospitals in 6 provinces or municipalities in northern and southern China. Clinical characteristics, previous diagnosis and treatment status of these patients were collected through questionnaires. Non-normally distributed continuous data were described by M ( Q1, Q3), and compared using Mann-Whitney U test, while categorical data were compared using chi-square test. Results:Among the 593 patients with rosacea, 164 were males and 429 were females, with a male-to-female ratio of 1∶2.6; 205 patients were from southern China, and 388 from northern China; most patients (349 cases, 58.8%) were aged 20 to 40 years, and the patients from northern China were significantly older than those from southern China (median age: 37 years vs. 30 years, P < 0.001). Multiple-site involvement (371 cases, 62.6%) and coexistence of multiple phenotypes (391 cases, 65.9%) were common, the cheeks (429 cases, 72.3%) and nose (393 cases, 66.3%) were mostly affected, and skin lesions mainly manifested as persistent erythema (354 cases, 59.7%), papulopustules (344 cases, 58.0%), and telangiectasia (282 cases, 47.6%). Involvement of the cheeks was more common in the patients from southern China (160 cases, 78.0%) than in those from northern China (269 cases, 69.3%), but the nose and eyes were less involved in the patients from southern China than in those from northern China (nose: 125 cases [61.0%] vs. 268 cases [69.1%]; eyes: 3 cases [1.5%] vs. 23 cases [5.9%]; both P < 0.05). The prevalence of transient erythema and papulopustules was significantly higher in the patients from southern China (38.0% and 65.4%, respectively) than in those from northern China (20.9% and 54.1% respectively, both P < 0.05), while the patients from northern China more frequently presented with persistent erythema compared with those from southern China (64.9% vs. 49.8%, P < 0.05). The disease duration ( M [ Q1, Q3]) was 12 (4, 30) months among the patients with rosacea, and the time from the onset to diagnosis was 10 (3, 24) months. The disease duration was significantly longer (12 [4, 36] months), and the proportion of patients with disease duration > 5 years was significantly higher (16.4% [63 cases]) in the patients from northern China than in those from southern China (12 [3, 24] months, 9.4% [19 cases], respectively; both P < 0.05). The patients with varied subtypes and severity of rosacea were previously mainly treated with topical antimicrobial agents (71.9%) ; 72.7% of the patients with mild rosacea were treated with systemic drugs; poor patient compliance was observed, and only 40.6% of the patients completed more than 4 consecutive weeks of treatment at a time. Conclusions:Rosacea usually occurred in young and middle-aged people in China, mostly involved the cheeks and nose, and mainly manifested as erythema or papulopustules. Delayed diagnosis, non-standard treatment and poor patient compliance existed in clinical practice.

Delays in health seeking, diagnosis and treatment for tuberculosis patients in Mongolia: an analysis of surveillance data, 2018–2021

@#Early diagnosis and treatment of infectious tuberculosis (TB) is essential to the attainment of global targets specified in the End TB Strategy. Using case-based TB surveillance data, we analysed delays in health seeking, diagnosis and treatment among TB patients in Mongolia from 2018 to 2021. We calculated the median and interquartile range (IQR) for “diagnostic delay”, defined as the time from symptom onset to diagnosis, subdivided into “health-seeking delay” (time from symptom onset to first visit to a health facility) and “health facility diagnostic delay” (time from first health facility visit to diagnosis), and for “treatment delay”, defined as the time from diagnosis to start of treatment. We also calculated “total delay”, defined as the time from symptom onset to treatment start. Based on data for 13 968 registered TB patients, the median total delay was estimated to be 37 days (IQR, 19–76). This was mostly due to health-seeking delay (median, 23 days; IQR, 8–53); in contrast, health facility diagnostic delay and treatment delay were relatively short (median, 1 day; IQR, 0–7; median, 1 day; IQR, 0–7, respectively). In 2021, health-seeking delay did not differ significantly between men and women but was shorter in children than in adults and shorter in clinically diagnosed than in bacteriologically confirmed TB cases. Health-seeking delay was longest in the East region (median, 44.5 days; IQR, 20–87) and shortest in Ulaanbaatar (median, 9; IQR, 14–64). TB treatment delay was similar across sexes, age groups and types of TB diagnosis but slightly longer among retreated cases and people living in Ulaanbaatar. Efforts to reduce TB transmission in Mongolia should prioritize decreasing delays in health seeking.

Cystic fibrosis: when neonatal screening is unsatisfactory for early diagnosis / Fibrose cística: quando a triagem neonatal é insatisfatória para o diagnóstico precoce

Abstract Introduction: cystic fibrosis newborn screening must enable its earlier diagnosis, which may enhance outcomes. This study was a series case of delayed-diagnosis children submitted to cystic fibrosis newborn screening. Description: fourteen children were included; eight (57.1%) were due to false-negative screening, while six (42.9%) were due to processing errors. Two samples collected after 30 days of life were incorrectly classified as negative, and four infants with a positive test could not be located due to screening processing errors. Cystic fibrosis diagnosis was confirmed at a median (IQR) age of 5.3 (4.2-7.4) months. Poor nutritional status was the most prevalent clinical sign at diagnosis, being present in 78.6% of infants. The mean (SD) weight-for-length and length-for-age Z-scores were -3.46 (0.84) and -3.99 (1.16), respectively. Half of the children had Pseudo-Bartter syndrome, and 42.9% had breathing difficulties. Twelve children (85.7%) required hospitalization, with a median (IQR) length of stay of 17.0 (11.5-26.5) days. Discussion: newborn screening had some faults, from incorrect collections to inefficient active search. Early identification of these children in which screening was unsatisfactory is essential, emphasizing the importance and efforts to not miss them. In the case of a failed test, healthcare professionals must be prepared to recognize the main symptoms and signs of the disease.

Resumo Introdução: a triagem neonatal para fibrose cística deve contribuir para diagnóstico precoce e melhor prognóstico da doença. O estudo é uma série de casos com lactentes submetidos à triagem, porém com diagnóstico tardio da doença. Descrição: quatorze crianças foram incluídas; oito (57,1%) com triagem falso-negativo e seis (42,9%) com erros processuais na triagem neonatal. Duas amostras foram coletadas tardiamente, sendo incorretamente classificadas como negativas e quatro lactentes com triagem positiva não foram localizados, por erros na busca ativa. Confirmou-se o diagnóstico da fibrose cística com idade mediana (IIQ) de 5,3 (4,2-7,4) meses. O Comprometimento nutricional precoce foi o sinal clínico mais prevalente ao diagnóstico, presente em 78,6% das crianças. Os Z escores médios (SD) do peso para altura e altura para idade foram -3,46 (0,84) e -3,99 (1,16), respectivamente. Metade das crianças teve síndrome de Pseudo-Bartter e 42,9% dificuldade respiratória. Doze crianças (85,7%) precisaram hospitalização com tempo mediano de permanência de 17 dias. Discussão: a triagem neonatal para fibrose cística apresentou falhas, desde testes falso-negativos, coletas incorretas, até problemas com a busca ativa. Entretanto, o diagnóstico ágil é essencial e os profissionais de saúde devem reconhecer os sintomas e sinais precoces da doença, mesmo quando a triagem neonatal não for satisfatória.

Factors associated with delayed diagnosis of leprosy in an endemic area in Northeastern Brazil: a cross-sectional study / Fatores associados ao atraso no diagnóstico da hanseníase em área endêmica no Nordeste do Brasil: um estudo transversal / Factores asociados con el diagnóstico tardío de la lepra en un área endémica del Nordeste de Brasil: un estudio transversal

Abstract: This study aimed to investigate the factors related to the individual and the health system that contribute to delayed diagnosis of leprosy in an endemic area in the Northeastern Brazil. This is a cross-sectional study of 120 individuals with leprosy. Demographic and clinical data and information on the factors related to the individual and the health system that contribute to delayed diagnosis of leprosy were obtained. Delayed diagnosis in months was estimated for each participant by interviews. A multivariate Poisson's regression analysis was performed between the outcome and the independent variables. The median delay in the diagnosis of leprosy was 10.5 (4.0-24.0) months. Approximately 12.6% of participants had grade 2 disability (G2D) at the time of diagnosis. In the multivariate Poisson regression analysis, males, older age, low schooling level, residing in urban areas, multibacellar or tuberculoid leprosy, not seeking healthcare immediately after symptom onset, suspected leprosy, excessive referrals, and the need for three or more consultations to confirm the diagnosis were associated with longer diagnostic delay. This study found a significant delay in the diagnosis of leprosy in Arapiraca, Northeastern Brazil, which may explain the continuously high rate of G2D among new cases. Factors related to the individual and the health system were associated with longer diagnostic delay. Interventions to raise awareness of the disease among the general population and strengthen primary health care are urgently needed.

Resumo: Neste estudo objetivou-se investigar os fatores relacionados ao indivíduo e ao sistema de saúde que contribuem para o atraso no diagnóstico da hanseníase em uma área endêmica no Nordeste do Brasil. Trata-se de um estudo transversal que incluiu 120 pacientes com hanseníase. Foram obtidos dados demográficos, clínicos e informações sobre fatores relacionados ao indivíduo e ao sistema de saúde que contribuem para o atraso no diagnóstico da hanseníase. O atraso do diagnóstico em meses foi estimado para cada participante por meio de entrevistas. Foi realizada uma análise multivariada por regressão de Poisson entre o resultado e as variáveis independentes. A mediana de atraso no diagnóstico da hanseníase foi de 10,5 (4,0-24,0) meses. Aproximadamente 12,6% dos participantes apresentavam grau de incapacidade física 2 (GIF 2) no momento do diagnóstico. Na análise multivariada por regressão de Poisson, homens, idosos, baixa escolaridade, residir em área urbana, hanseníase multibacilar, hanseníase tuberculóide, não procurar atendimento imediatamente após perceber os primeiros sintomas, suspeita de hanseníase, encaminhamentos excessivos e três ou mais consultas necessárias para confirmação diagnóstica associaram-se ao maior atraso diagnóstico. Este estudo encontrou um atraso significativo no diagnóstico da hanseníase em Arapiraca, Nordeste do Brasil, o que pode explicar a taxa continuamente alta de GIF 2 entre os casos novos. Fatores relacionados ao indivíduo e ao sistema de saúde foram associados ao maior atraso no diagnóstico. Intervenções para aumentar a conscientização sobre a doença entre a população geral e fortalecer a atenção primária à saúde são urgentemente necessárias.

Resumen: El objetivo de este estudio fue investigar los factores relacionados con el individuo y el sistema de salud que contribuyen al diagnóstico tardío de la lepra en un área endémica del Nordeste de Brasil. Se trata de un estudio transversal que incluyó a 120 pacientes con lepra. Se obtuvieron datos demográficos, clínicos e informaciones sobre los factores relacionados con el individuo y el sistema de salud que contribuyen al diagnóstico tardío de la lepra. Se estimó el retraso del diagnóstico en meses para cada participante a través de entrevistas. Se realizó un análisis multivariante por regresión de Poisson entre el resultado y las variables independientes. La mediana de retraso en el diagnóstico de lepra fue de 10,5 (4,0-24,0) meses. Aproximadamente el 12,6% de los participantes tenían grado de discapacidad física 2 (GIF 2) en el momento del diagnóstico. En el análisis multivariante por regresión de Poisson se encontró que los hombres, ancianos, la baja escolaridad, vivir en área urbana, la lepra multibacilar, la lepra tuberculoide, no buscar atención médica inmediatamente tras notar los primeros síntomas, la sospecha de lepra, las derivaciones excesivas y la necesidad de tres o más consultas para confirmar el diagnóstico se asociaron con un mayor retraso del diagnóstico. Este estudio encontró un retraso significativo en el diagnóstico de la lepra en Arapiraca, Nordeste de Brasil, lo que puede explicar la tasa continuamente alta de GIF 2 entre los nuevos casos. Factores relacionados con el individuo y el sistema de salud se asociaron con el mayor retraso del diagnóstico. Intervenciones para aumentar la concienciación sobre la enfermedad entre la población general y fortalecer la atención primaria de salud son urgentemente necesarias.

Modified Senning Procedure for Treatment of Transposition of the Great Arteries with Crisscross Heart

ABSTRACT Clinical data: A nine-month-old female infant diagnosed with transposition of the great arteries with symptoms of heart failure associated with cyanosis and difficulty in gaining weight was referred to our center with late diagnosis (at nine months of age). Chest radiography: Cardiomegaly; attenuated peripheral vascular markings. Electrocardiography: Sinus rhythm with biventricular overload and aberrantly conducted supraventricular extra systoles. Echocardiography: Wide atrial septal defect, ventricular axis torsion with concordant atrioventricular connection and discordant ventriculoarterial connection. Computed tomography angiography: Concordant atrioventricular connection, right ventricle positioned superiorly and left ventricle positioned inferiorly; discordant ventriculoarterial connection with right ventricle connected to the aorta and left ventricle connected to pulmonary artery. Diagnosis: Crisscross heart is a rare congenital heart defect, accounting for 0.1% of congenital heart diseases. It consists of the 90º rotation of ventricles' axis in relation to their normal position; therefore, ventricles are positioned in the superior-inferior direction rather than anterior-posterior. Most cases have associated cardiac anomalies, and in this case, it is associated with transposition of the great arteries. The complexity and rarity of its occurrence make diagnosis and surgical treatment challenging. Operation: Modified Senning procedure using the pericardial sac in the construction of a tunnel from pulmonary veins to the right atrium. Cardiopulmonary bypass time of 147 minutes with nine minutes of total circulatory arrest.

Unmet needs in the management of psoriasis in Latin America: a systematic review

Abstract Background Psoriasis is a chronic, systemic inflammatory disease with a worldwide prevalence of approximately 2%. Currently, despite the difficulties faced every day by patients and physicians in low-resource countries, literature describing the exact needs of psoriasis treatment in Latin America remains scarce. Objective To investigate the unmet needs in psoriasis treatment in Latin America. Methods The authors conducted a systematic review following PRISMA statements in PubMed, Embase, and LILACS of studies published from January 2011 to March 2021 addressing challenges in psoriasis treatment in Latin America. Results The search strategy identified 3,837 articles, of which 19 were included in the final analysis. Most were from Brazil (58%; n = 11), all were observational, and most were cross-sectional (84%; n = 16). Difficulties faced by psoriasis patients in Latin America included the high prevalence of opportunistic and endemic infections (42% of the studies addressed this matter; n = 8), delay in diagnosis (5%; n = 1), work productivity impairment (16%; n = 3), limited access to medication/medical care (37%; n = 7), poor adherence to treatment (5%; n = 1) and poor adherence to guidelines (11%; n = 2). Study limitations Number and quality of studies currently available on this subject. Conclusions Current psoriasis guidelines do not always account for epidemiological, financial, and cultural characteristics. Most studies available are from Brazil, which might not accurately represent Latin America as a whole. In a region where neglected diseases and scarce resources remain a reality, it is imperative that dermatological training be offered to primary care providers, allowing for standardized conduct and earlier diagnosis.

Desigualdades en el tiempo hasta el diagnóstico del síndrome de Down en Bolivia / Inequalities in time to diagnosis of Down Syndrome in Bolivia

RESUMEN El síndrome de Down es la condición genética más común y una causa principal de discapacidad intelectual. Las personas en áreas rurales, especialmente aquellas con discapacidades, a menudo enfrentan desigualdades en el acceso a la salud. A partir de los registros clínicos de pacientes con diagnóstico confirmado de síndrome de Down entre 2013 y 2022, por el Instituto de Genética de la Universidad Mayor de San Andrés, La Paz, Bolivia, se analizó, analizó el tiempo hasta el diagnóstico de 250 pacientes con síndrome de Down, mostró que los pacientes procedentes de áreas rurales con síndrome de Down tardan cinco meses en promedio en recibir un diagnóstico, comparado a los dos meses en zonas urbanas (p<0,001). No se encontraron diferencias significativas en el tiempo hasta el diagnostico según el sexo. Sin embargo, se evidenció una mayor proporción de varones provenientes de áreas rurales (p=0,03). Los hallazgos sugieren que los individuos de áreas rurales enfrentan dificultades para recibir el diagnóstico. Por otro lado, las mujeres quizás no sean llevadas a ciudades para un diagnóstico y tratamiento adecuado debido a sesgos de género en ciertas comunidades. Se subraya la importancia de mejorar el acceso a diagnósticos y tratamientos tempranos en áreas rurales.

ABSTRACT Down Syndrome is the most common genetic condition and a leading cause of intellectual disability. Individuals in rural areas, particularly those with disabilities, often face disparities in healthcare access. Analyzing clinical records of patients diagnosed with Down Syndrome between 2013 and 2022 by the Institute of Genetics at the Universidad Mayor de San Andrés in La Paz, Bolivia, this study examined the time to diagnosis for 250 patients with Down Syndrome. The findings revealed that patients from rural areas with Down Syndrome take an average of five months to receive a diagnosis, compared to two months in urban areas (p<0.001). No significant differences were found in the time to diagnosis based on gender. However, a higher proportion of males from rural areas was observed (p=0.03). The results suggest that individuals in rural areas face challenges in receiving a timely diagnosis. On the other hand, women may not be brought to cities for proper diagnosis and treatment due to gender biases in certain communities. The importance of improving access to early diagnosis and treatment in rural areas is emphasized.

Factores asociados al diagnóstico tardío del Trastorno del Espectro Autista / Factors associated with delayed diagnosis of Autism Spectrum Disorder

El trastorno del espectro autista (TEA) es una condición crónica del neurodesarrollo caracterizada por déficits persistentes en la comunicación e interacción social y un patrón de intereses restringidos y/o comportamientos repetitivos que pueden afectar el funcionamiento del individuo en la vida diaria familiar y comunitaria. El diagnóstico oportuno intenta mejorar la trayectoria, reducir el impacto funcional y disminuir los efectos de condiciones médicas asociadas. El diagnóstico tardío de TEA es considerado como aquel realizado luego de los 6 años de edad, en coincidencia con el fin de la escolaridad inicial. Si bien esta edad puede resultar arbitraria lo que se busca es una generalización de aquellos casos en los que probablemente hubo múltiples pérdidas de oportunidades diagnósticas y terapéuticas. Objetivo: Reflexionar sobre los determinantes del diagnóstico tardío del TEA con el fin de proponer posibles soluciones a esta problemática. Desarrollo: A partir de tres viñetas clínicas de pacientes que recibieron el diagnóstico en nuestro servicio, luego de los 6 años de edad, nos proponemos identificar y analizar aquellos factores (motivos sociodemográficos, problemas organizacionales, en la etapa de evaluación diagnóstica, respecto al género, cuidadores/ familiares y características clínicas) que determinan la demora diagnóstica. Conclusiones: El diagnóstico tardío del TEA es una problemática compleja y multifactorial, que implica desafíos significativos en el desarrollo de los NNyA con esta condición, sus familias y su entorno. Es importante considerar las causas que demoran el diagnóstico, desde el ámbito clínico, familiar y socio-ambiental para poder intervenir oportunamente (AU)

Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition characterized by persistent deficits in communication and social interaction and a pattern of restricted interests and/or repetitive behaviors that can affect the individual's daily functioning both at home and in the community. Early diagnosis is important to improve the developmental trajectory, reduce functional impairment, and decrease the impact of comorbid medical conditions. Delayed diagnosis of ASD is defined as a diagnosis made after the age of 6 years, coinciding with the end of preschool. Although this age may be arbitrary, it serves to encompass cases in which there were probably multiple missed diagnostic and therapeutic opportunities. Objective: To explore the causes of late diagnosis of ASD in order to propose possible solutions to this problem. Development: Based on three clinical vignettes of patients who were diagnosed at our department after 6 years of age, we aimed to identify and analyze factors influencing diagnostic delays. These factors included sociodemographic causes, organizational challenges, issues during the diagnostic workup, considerations related to gender, caregivers/families, and clinical characteristics. Conclusions: Delayed diagnosis of ASD is a complex and multifactorial problem leading to significant challenges in the development of children and adolescents with this condition as well as their families and their environment. Identification of the causes of diagnostic delay is important from the clinical, family and socio-environmental point of view, in order to start timely interventions (AU)

Causa inusual de obstrucción traqueal: linfoma de células B no Hodgkin / Unusual cause of tracheal obstruction: B cell non-Hodgkin lymphoma

Las neoplasias de la tráquea son poco comunes, siendo más infrecuente aún el linfoma de células B no Hodgkin a este nivel. La presentación clínica de esta entidad es muy variable y sus síntomas son muy inespecíficos, simulando varias enfermedades, generando así un diagnóstico tardío. Actualmente se dispone de varias ayudas diagnósticas que permiten descartar otras patologías y confirmar la neoplasia traqueal, además la biopsia es fundamental para llegar al diagnóstico final y así instaurar el manejo en estadios tempranos, para impactar en la morbimortalidad. A continuación presentamos el caso de una paciente con linfoma de células B no Hodgkin como causa de obstrucción traqueal.

Tracheal neoplasms are uncommon, with non-Hodgkin B-cell lymphoma being even rarer at this level. The clinical presentation of this entity is highly variable and its symptoms are very non-specific, simulating several diseases, thus generating a late diagnosis. Currently, there are several diagnostic aids that allow us to rule out other pathologies and confirm tracheal neoplasia, in addition, biopsy is essential to reach the final diagnosis and thus establish management in early stages to impact morbidity and mortality. We present the case of a patient with non-Hodgkin's B-cell lymphoma as a cause of tracheal obstruction.

Fatores que dificultam o diagnóstico da hanseníase nas perspectivas dos profissionais da saúde da estratégia da saúde da família em unidades básicas de saúde em Imperatriz - MA / Factors that hinder the diagnosis of leprosy in the perspectives of health professionals of the family health strategy in basic health units in Imperatriz - MA

A hanseníase é uma doença crônica ocasionada pelo Mycobacterium leprae, gerando sintomas dermatoneurológicos. O diagnóstico é clínico, porém sua identificação é dificultada pela similaridade clínica com outras patologias cutâneas, impedindo o diagnóstico precoce e promovendo a ocorrência de incapacidades físicas. Diante disso, faz-se imprescindível conhecer os motivos dessa demora, a partir da perspectiva dos profissionais de saúde na atenção primária. Para tanto, este estudo tem como objetivo avaliar a percepção dos profissionais da estratégia da saúde da família (ESF) acerca das dificuldades no diagnóstico da hanseníase no município de Imperatriz, Maranhão. Esta pesquisa se trata de um estudo de natureza aplicada, abordagem qualitativa e com caráter exploratório, realizada com a equipe da ESF em Unidades Básicas de Saúde (UBS) de Imperatriz-MA. Para a coleta de dados, foi aplicada uma entrevista semiestruturada elaborada pelos autores, dividida em três blocos. No bloco "conhecimento sobre a doença", o nível mediano foi o mais prevalente nas falas dos participantes. No bloco "dificuldades de diagnóstico", o que ficou mais em evidência nas respostas foram "baixa adesão",. "estigmas/preconceito" e "resistência". Sendo assim, medidas foram sugeridas pelos entrevistados, as quais devem ser colocadas em prática diariamente tanto em ambiente social como profissional, visando um diagnóstico mais rápido, melhorando a qualidade de vida dos pacientes e favorecendo o controle da doença.

Leprosy is a chronic disease caused by Mycobacterium leprae, resulting in dermatoneurological symptoms. The diagnosis is clinical, but its identification is hindered by the clinical similarity to other skin pathologies, preventing early diagnosis and promoting the occurrence of physical disabilities. Therefore, it is essential to know the reasons for this delay from the perspective of primary healthcare professionals. Thus, this study aims to evaluate the perception of family health strategy (FHS) professionals about the difficulties in diagnosing leprosy in the municipality of Imperatriz-MA. This research is a study of applied nature, qualitative approach and with an exploratory character, carried out with the FHS team in Basic Health Units (UBS, in portuguese) from Imperatriz-MA. For data collection, a semi-structured interview prepared by the authors was applied, divided into three sections. In the "knowledge about the disease" section, the median level was the most prevalent in the participants' statements. In the section "diagnosis difficulties", what was more evident in the answers were "low adherence", "stigma/prejudice", and "resistance". Consequently, the interviewees suggested measures that should be implemented in daily practice, both in a social and professional environment, aiming at a faster diagnosis, improving the quality of life of patients and favoring disease control.

Changing Patterns of Malignant Neoplasm Notifications in Brazil during the COVID-19 Pandemic: a Seasonal Analysis / Mudança nos Padrões de Notificação de Neoplasias Malignas no Brasil Durante a Pandemia de COVID-19: uma Análise Sazonal

The COVID-19 pandemic has caused delays in the diagnosis, treatment and follow-up of patients with malignant neoplasms (MN). To analyze the distribution pattern of MN cases in Brazil, we collected data in August 2022, provided by the Department of Informatics of the Brazilian Ministry of Health, from 2013 to 2021. The data were organized in Microsoft Excel, the analysis and presentation of the data were made using ggplot and Reshape packages, and temporal patterns and forecast models were obtained by ARIMA method together with aTSA. The results show that the COVID-19 pandemic did not directly impact the notifications of MN cases, but changed the profile of notifications, as in 2018 there was an increase in the diversity of notified neoplasms, and a change in the number of cases in 2019 and 2020. In addition, the distribution between the evaluations of neoplasms was not proportional, showing conversion in 12 (32.4%), decrease in 24 (64.9%) and increase in 1 neoplasm (2.7%). The findings help to understand the new behavior of notifications, demonstrating a pattern similar to the seasonal forecast model, with random or linear trending patterns. This distribution, with a seasonal pattern, shows variability in certain periods of the year, providing important information for early diagnosis and better planning. Data from this research reinforce the need for active screening methods and incentives for preliminary screening for better detection and management of this malignancy. (AU)

A pandemia de COVID-19 causou atrasos no diagnóstico, tratamento e acompanhamento de pacientes com neoplasias malignas (NM). Para analisar o padrão de distribuição dos casos de MN no Brasil, coletamos dados em agosto de 2022 disponibilizados pelo Departamento de Informática do Ministério da Saúde do Brasil de 2013 a 2021. Os dados foram organizados no Microsoft Excel, a análise e apresentação dos dados foram feitas usando os pacotes ggplot e Reshape, e os padrões temporais e modelos de previsão foram obtidos pelo método ARIMA junto com o aTSA. Os resultados mostram que a pandemia de COVID-19 não impactou diretamente nas notificações dos casos de NM, mas mudou o perfil das notificações, pois em 2018 houve aumento na diversidade de neoplasias notificadas, e mudança no número de casos em 2019 e 2020. Além disso, a distribuição entre as avaliações das neoplasias não foi proporcional, mostrando conversão em 12 (32,4%), diminuição em 24 (64,9%) e aumento em 1 neoplasia (2,7%). As descobertas ajudam a entender o novo comportamento das notificações demonstrando um padrão semelhante ao modelo de previsão sazonal, com padrões de tendência aleatórios ou lineares. Essa distribuição com padrão sazonal, apresenta variabilidade em determinados períodos do ano, fornecendo informações importantes para o diagnóstico precoce e melhor planejamento. Os dados desta pesquisa reforçam a necessidade de métodos de triagem ativa e incentivos à triagem preliminar para melhor detecção e manejo dessa malignidade. (AU)

Factors associated with delayed diagnosis among sub-Saharan African women

Breast cancer incidence in sub-Saharan Africa is among the lowest in the world; however, mortality is as high as in high-incidence countries because of poor survival rates. Most breast cancer patients in sub-Saharan Africa are diagnosed at advanced stages after prolonged symptomatic periods. Understanding the reasons why women in sub-Saharan Africa seek care after the onset of symptoms is essential to promoting early diagnosis and ultimately improve their cancer survival.

Causes of late-presenting developmental dislocation of the hip beyond 12 months of age: A pilot study

Background & objectives: Developmental dysplasia of the hip (DDH), when detected early, can usually be managed effectively by simple methods. A delayed diagnosis often makes it a complex condition to treat. Late presentation of DDH is fairly common in developing countries, and there is scarcity of literature regarding the epidemiology and reason for late presentation. Through this study, we attempted to identify the reasons for late presentation of DDH in children more than 12 months of age. Methods: Fifty four children with typical DDH and frank dislocation of hip in whom treatment was delayed for 12 months or more were included. Parents were interviewed with a pre-structured questionnaire and data were collected for analysis with Microsoft Excel 2016 and SPSS version 26. Results: Diagnostic delay was the most common reason for late presentation and was observed in 52 children (96.2%). The mean age at diagnosis was 24.7 months. The mean age at treatment was 37.3 months with a mean delay of 12.5 months from diagnosis and 22.1 months from initial suspicion. Physician-related factors contributed 55.3 per cent, while family and social issues accounted for 44.7 per cent of overall reasons for diagnostic and treatment delays. Interpretation & conclusions: Late presentation of DDH in walking age is common. Physician- and family-related factors accounted for most of these cases. Failure or inadequate hip screening at birth by the attending physician is a common reason for late diagnosis. The family members were unaware about the disorder and developed suspicion once child started walking with an abnormal gait

Fatores associados ao atraso no diagnóstico e tratamento do câncer bucal: revisão integrativa de literatura / Factors associated with delay in the diagnosis of bucal cancer: integrative literature review

Introdução: O câncer bucal é apontado como um problema de saúde relevante e apresenta alta taxa de incidência e mortalidade. O consumo de tabaco e álcool são considerados os principais fatores de risco para sua ocorrência. Apesar dos avanços relacionados a detecção, diagnóstico e tratamento, grande parte dos pacientes ainda é diagnosticada com a doença em estágio avançado. Objetivo: Estabelecer os principais fatores associados ao atraso no diagnóstico do câncer bucal. Material e Métodos: Foram pesquisados artigos nas bases de dados MEDLINE/PubMed, SciELO e Lilacs, com os descritores: delayed oral cancer; delayed diagnosis oral cancer; oral cancer young patients; e HPV oral cancer patients. Como critérios de inclusão, foram delimitados artigos completos e disponíveis integramente. Publicações não relacionadas a delimitação do tema e ao objetivo do estudo foram excluídas. Resultados: Foram encontrados 513 artigos, dos quais 118 foram lidos na íntegra e 96 por fim selecionados, conforme critérios de inclusão e exclusão. Os dados indicaram que o atraso no diagnóstico do câncer bucal é frequente e relacionado ao atraso pelo paciente, atraso pelo profissional de saúde e atraso no tratamento, com destaque ao atraso pelo paciente. Conclusão: O diagnóstico precoce é o meio mais eficaz de reduzir as taxas de mortalidade e melhorar o prognóstico e qualidade de vida de pacientes com câncer bucal. Dessa forma, estratégias que objetivam a redução de diagnósticos realizados tardiamente devem ser consideradas.

Introduction: Oral cancer is identified as a relevant health problem and has a high incidence and mortality rate. Tobacco and alcohol consumption are considered the main risk factors for its occurrence. Despite advances related to detection, diagnosis and treatment, a large proportion of patients are still diagnosed with the disease at an advanced stage. Objective: To establish the main factors associated with delays in the diagnosis of oral cancer. Material and Methods: Articles were searched in the MEDLINE/PubMed, SciELO and Lilacs databases, with the descriptors: delayed oral cancer; delayed diagnosis of oral cancer; oral cancer young patients; and oral HPV cancer patients. As inclusion criteria, complete and fully available articles were delimited. Publications not related to the delimitation of the topic and the objective of the study were excluded. Results: 513 articles were found, of which 118 were read in full and 96 were finally selected, according to inclusion and exclusion criteria. The data indicated that delays in diagnosing oral cancer are frequent and related to delays by the patient, delays by healthcare professionals and delays in treatment, with emphasis on delays by the patient. Conclusion: Early diagnosis is the most effective way to reduce mortality rates and improve the prognosis and quality of life of patients with oral cancer. Therefore, strategies that aim to reduce late diagnoses should be considered.

Predictors of short-term mortality in HIV-infected patients admitted to intensive care unit / Fatores preditores de mortalidade de curto prazo em pacientes infectados com HIV admitidos em unidade de terapia intensiva

INTRODUCTIONn: Historically, complications of HIV infection have been related to admissions to the Intensive Care Unit (ICU). Despite therapeutic advances, the results of the analysis of prognostic factors in patients with HIV/AIDS have varied, including late diagnosis and failure to adhere to antiretroviral treatment. OBJECTIVE: To evaluate the predictors of short-term mortality in HIV-infected patients admitted to the ICU, as well as their sociodemographic and clinical characteristics. METHODS: A retrospective cohort study including patients admitted to the ICU of a teaching hospital from 2003 through 2012. Data were collected from medical records after the Institutional Review Board approval. RESULTS: 148 HIV-infected patients were identified and 131 were eligible. Among included patients, 42.75% were HIV new diagnoses and 5.34% had no information about the time of diagnosis. The main reasons for admission to the ICU were respiratory failure and sepsis while mortality was 70.23% between 2003 and 2012. Among the risk factors for mortality were low albumin, high APACHE, low CD4+ T lymphocyte count, and not using antiretroviral therapy. CONCLUSION: Despite the availability of diagnosis and treatment for HIV-infected individuals, the number of new cases of advanced Aids diagnosed in high-complexity services such as ICU is high, as well as the non-use of combination antiretroviral therapy. It is necessary to strengthen anti-HIV screening to detect and treat more cases in the early stages.

INTRODUÇÃO: Historicamente, as complicações da infecção pelo HIV estavam relacionadas às internações em Unidade de Terapia Intensiva (UTI). Apesar dos avanços terapêuticos, os fatores prognósticos em pacientes com HIV/AIDS têm variado, incluindo diagnóstico tardio e não adesão ao tratamento antirretroviral. OBJETIVO: Avaliar os fatores preditores de mortalidade a curto prazo em pacientes infectados pelo HIV internados em UTI, bem como suas características sociodemográficas e clínicas. MÉTODOS: Estudo de coorte retrospectivo incluindo pacientes internados na UTI de um hospital universitário entre 2003 a 2012. Os dados foram coletados dos prontuários médicos após a aprovação pelo Comitê de Ética em Pesquisa com Seres Humanos. RESULTADOS: 148 pacientes infectados pelo HIV foram identificados e 131 eram elegíveis. Entre os pacientes incluídos, 42,75% possuíam diagnósticos recente de HIV e 5,34% não possuíam informação sobre o momento do diagnóstico. Os principais motivos de admissão na UTI foram insuficiência respiratória e sepse, enquanto a mortalidade foi 70,23% entre 2003 e 2012. Entre os fatores de risco para mortalidade identificou-se albumina baixa, APACHE alto, baixa contagem de linfócitos T CD4+ e não uso de terapia antirretroviral. CONCLUSÃO: Apesar da disponibilidade de diagnóstico e tratamento para indivíduos infectados pelo HIV, é elevado o número de casos novos em estágio avançado de Aids diagnosticados em serviços de alta complexidade, como UTI, e o não uso de terapia antirretroviral combinada. É necessário fortalecer a triagem anti-HIV, bem como aumentar a repetição da testagem anti-HIV para detectar e tratar mais casos em estágios iniciais.

Fatores atrelados ao diagnóstico tardio em pessoas com Hanseníase na atenção primária à saúde (aps): uma revisão integrativa / Factors associated with delayed diagnosis in people with leprosy in primary health care: an integrative review / Factores asociados al retraso diagnóstico en personas con lepra en atención primaria: una revisión integradora

Objetivo: identificar os fatores envolvidos no diagnóstico tardio em pessoas com hanseníase na APS, sob a ótica da literatura vigente. Metodologia: trata-se de uma revisão integrativa da literatura, constituído por seis etapas, que seguiu o acrônimo PICo para formulação da questão de pesquisa. As buscas foram realizadas na National Library of Medicine (PubMed)/ Medical Literature Analysis and Retrieval Sistem (Medline); Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS); Scientific Electronic Library Online (Scielo-Brasil); Scopus; e Web Science, e incorporou estudos publicados desde 2000 até março de 2022. Resultados: dos 80 artigos identificados na busca, 7 artigos foram selecionados, entre os quais, três foram publicados na PLoS Neglected Tropical Diseases; dois estudos foram publicizados em 2018; a área de conhecimento mais publicada, englobou a de doenças tropicais negligenciadas. Considerações: os estudos incluídos nesta revisão, possibilitaram elucidar a partir de evidências científicas, dois grandes grupos de fatores que estão atrelados ao processo do atraso diagnóstico de hanseníase, sendo estes: os fatores operacionais relacionados ao serviço de saúde e os fatores relacionados a população, sendo necessário fortalecer as ações de educação permanente em saúde para os profissionais sobre a hanseníase, como é preciso desenvolver ações de educações em saúde para a comunidade, para que possam atuar em cooperação na ESF, na identificação dos sinas e sintomas de forma precoce.

Objective: to identify the factors involved in the late diagnosis of people with leprosy in PHC, from the perspective of the current literature. Methodology: this is an integrative review of the literature, consisting of six steps, which followed the acronym PICo to formulate the research question. The searches were carried out at the National Library of Medicine (PubMed)/Medical Literature Analysis and Retrieval System (Medline); Latin American and Caribbean Literature in Health Sciences (LILACS); Online Scientific Electronic Library (Scielo-Brasil); Scopus; and Web Science, and incorporated studies published from 2000 to March 2022. Results: of the 80 articles identified in the search, 7 articles were selected, among which, three were published in PLoS Neglected Tropical Diseases; studies were published in 2018; The most published area of knowledge covers neglected tropical diseases. Considerations: the studies included in this review made it possible to elucidate, based on scientific evidence, the large groups of factors that are linked to the process of late diagnosis of leprosy, namely: operating factors related to the health service and factors related to the population, it is necessary to strengthen actions of education in permanent health for professionals about leprosy, just as it is necessary to develop actions of education in health for the community, so that they can act in cooperation in the ESF, in the early identification of signs and symptoms.

Objetivo: identificar los factores implicados en el diagnóstico tardío de personas con lepra en APS, desde la perspectiva de la literatura actual. Metodología: se trata de una revisión integrativa de la literatura, compuesta por seis etapas, que siguieron el acrónimo PICo para formular la pregunta de investigación. Las búsquedas fueron realizadas en National Library of Medicine (PubMed)/Medical Literature Analysis and Retrieval System (Medline); Latin American and Caribbean Literature in Health Sciences (LILACS); Online Scientific Electronic Library (Scielo-Brasil); Scopus; y Web Science, e incorporaron estudios publicados desde 2000 hasta marzo de 2022. Resultados: de los 80 artículos identificados en la búsqueda, se seleccionaron 7 artículos, entre los cuales, tres fueron publicados en PLoS Neglected Tropical Diseases; los estudios fueron publicados en 2018; El área de conocimiento más publicada abarca las enfermedades tropicales desatendidas. Consideraciones: los estudios incluidos en esta revisión permitieron dilucidar, con base en la evidencia científica, los grandes grupos de factores que están vinculados al proceso de diagnóstico tardío de la lepra, a saber: factores operativos relacionados con el servicio de salud y factores relacionados con la población, es necesario fortalecer las acciones de educación en salud permanente para los profesionales sobre la lepra, así como es necesario desarrollar acciones de educación en salud para la comunidad, para que puedan actuar en cooperación en la ESF, en la identificación precoz de signos y síntomas.

Delay in the diagnosis and treatment of tuberculosis in prisons in Mato Grosso do Sul, Brazil

ABSTRACT Background: The number of tuberculosis (TB) cases in prisons is higher than that in the general population and has been reported as the most common cause of death in prisons. This study evaluated the delay in the diagnosis and treatment of TB in Brazilian prisons. Methods: A retrospective cohort study was conducted between 2007 and 2015 using data from the five largest male prisons in Mato Grosso do Sul, Brazil. TB case data was collected from the National Database of Notifiable Diseases (SINAN), GAL-LACEN, and prison medical records. The following variables were recorded: prison, year of diagnosis, age, race, education, HIV status, smoking status, comorbidities, number of symptoms, percentage of cures, delay in diagnosis, patient delay, provider delay, laboratory delay, and delay in treatment. Descriptive statistics were used for the variables of interest. Results: A total of 362 pulmonary TB cases were identified. The average time between the first symptom and reporting of data was 94 days. The mean time between symptom onset and laboratory diagnosis was 91 days. The average time from symptom onset to first consultation was 80 days. The time between diagnosis and treatment initiation was 5 days. Conclusions: Delays were significant between reporting of the first symptoms and diagnosis and significantly smaller from the time between notification and start of treatment. Control strategies should be implemented to diagnose cases through active screening, to avoid delays in diagnosis and treatment, and to reduce TB transmission.

Human Visceral Leishmaniasis: lethality and time from suspicion to treatment in an endemic area in Brazil / Leishmaniose visceral humana: letalidade e tempo da suspeição ao tratamento em área endêmica no Brasil / Leishmaniasis visceral humana: letalidad y tiempo desde la sospecha hasta el tratamiento en un área endémica de Brasil

Background and objectives: human visceral leishmaniasis (HVL) are a persistent public health problem, configuring a challenge to reduce its lethality. In order to evaluate the factors associated with lethality, this study emphasizes the time elapsed from suspicion to treatment of HVL, in the years 2015 to 2019, in the municipality of Araguaína-TO, an area of intense transmission. Methods: an epidemiological study of case series with longitudinal follow-up with information extracted from HVL notification and investigation forms. The relative risk (RR) was used as a measure of the strength of association for death, being calculated with confidence intervals (95% CI) estimated by the Wald test. Time intervals were represented in days by box plot as medians (Md). Results: of the 191 cases of HVL, 179 (93.72%) were cured and 12 (6.28%) had a fatal outcome. There was no association of risk of death by sex, education, race, being significant only by age in the age groups of young (RR= 16.09) and older adults (RR=7.08). The time from suspicion to treatment in children was shorter (0-35 days, Md=12) than that of older patients (4-44 days, Md=18) and in those who died (7-65 days, Md=20) highlighting greater inopportunity of healing in these last two groups. Conclusion: late diagnosis was a determining indicator for worse outcomes, five days made the difference between the group with an outcome for cure with the group of those who died, highlighting the need to shorten the wait for treatment.(AU)

Justificativa e objetivos: a leishmaniose visceral humana (LVH) constitui-se em persistente problema de saúde pública, configurando-se um desafio à redução de sua letalidade. Para avaliação dos fatores associados à letalidade, este estudo tem ênfase no tempo decorrido da suspeição ao tratamento de LVH, nos anos de 2015 a 2019, no município de Araguaína-TO, área de transmissão intensa. Métodos: estudo epidemiológico de série de casos com acompanhamento longitudinal, com informações extraídas das fichas de notificação e investigação de LVH. Utilizou-se o risco relativo (RR) como medida de força de associação para o óbito, sendo calculado com intervalos de confiança (IC 95%) estimados pelo Teste de Wald. Os intervalos de tempo foram representados em dias por box plot em medianas (Md). Resultados: dos 191 casos de LVH, 179 (93,72%) obtiveram cura e 12 (6,28%) apresentaram desfecho fatal. Não houve associação de risco de morte por sexo, escolaridade, raça ou cor, sendo significativa apenas por idade nas faixas etárias de adultos jovens (RR= 16,09) e idosos (RR=7,08). O tempo da suspeição ao tratamento em crianças foi mais curto (0-35 dias, Md= 12) que o de pacientes mais velhos (4-44 dias, Md=18) e naqueles que evoluíram ao óbito (7-65 dias, Md=20), realçando maior inoportunidade de cura nesses dois últimos grupos. Conclusão: o diagnóstico tardio foi um indicador determinante para piores desfechos, e cinco dias fizeram a diferença entre o grupo com desfecho para cura e o grupo dos que vieram a óbito, destacando a necessidade de encurtamento da espera para tratamento.(AU)

Justificación y objetivos: la leishmaniasis visceral humana (HVI) constituye un problema persistente de salud pública, configurando un desafío para reducir su letalidad. Con el objetivo de evaluar los factores asociados a la letalidad, este estudio enfatiza el tiempo transcurrido desde la sospecha hasta el tratamiento de la VLH, en los años 2015 a 2019, en el municipio de Araguaína-TO, zona de transmisión intensa. Métodos: estudio epidemiológico de serie de casos con seguimiento longitudinal con información extraída de los formularios de notificación e investigación LVH. Se utilizó el riesgo relativo (RR) como medida de la fuerza de asociación para muerte, siendo calculado con intervalos de confianza (IC 95%) estimados por la prueba de Wald. Los intervalos de tiempo se representaron en días mediante diagrama de caja como medianas (Md). Resultados: los 191 casos de LVH, 179 (93,72%) se curaron y 12 (6,28%) tuvieron un desenlace fatal. No hubo asociación de riesgo de muerte por sexo, educación, raza o color, siendo significativo solo por edad en los grupos de edad de adultos jóvenes (RR= 16,09) y ancianos (RR=7,08). El tiempo desde la sospecha hasta el tratamiento en los niños fue menor (0-35 días, Md=12) que en los pacientes mayores (4-44 días, Md=18) y en los que fallecieron (7-65 días, Md=20) destacando mayor inoportunidad de curación en estos dos últimos grupos. Conclusión: el diagnóstico tardío fue un indicador determinante de peor desenlace, los cinco días marcaron la diferencia entre el grupo con resultado de curación con el grupo de los que fallecieron, destacando la necesidad de reducir la espera para el tratamiento.(AU)

Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting

Purpose: To analyze the genetic referral practices of pediatric ophthalmologists in an urban setting. Methods: (1) The first limb of the study: cross?sectional, observational study among children visiting the outpatient department of pediatric ophthalmology across five centers in Mumbai. All pediatric patients were screened separately by pediatric ophthalmologists and a clinical geneticist for their ophthalmic and systemic complaints. Children were marked for referral to genetics (RTG) by both the specialists based on identification of distinctive features (red flag) and were requested to meet a local geneticist. (2a) Twenty?three months later, patients who had been marked for RTG were contacted telephonically to follow?up if they had met the geneticist. (2b) Additionally, the last 20 proformas from each center were checked retrospectively to note the RTG marked by the ophthalmologist alone. Results: (1) In the first aspect of the study, 126 patients (male: female = 1.2:1) were included. Forty?nine (38.3%) patients were referred for genetic evaluation, of which three (6.1%), 31 (63.26%), and 15 (30.6%) cases were referred by the ophthalmologist alone, geneticist alone, and by both the specialists, respectively. Glaucoma (100%), nystagmus (86%), and leukocoria (83%) were the most prominent ocular diagnoses in cases referred for genetic evaluation. Facial dysmorphism (55.1%) and neurodevelopmental delays (51%) were among the most common systemic red flags found in patients referred to genetics. (2a) Twenty?three months later, on contacting the 49 patients marked for RTG, only one family had met the geneticist. (2b) Retrospective evaluation of 100 proformas: only three patients were marked for RTG by ophthalmologist alone. Conclusion: This study found that the genetic referrals by pediatric ophthalmologist were far lesser than those by geneticist. The study highlights an area of knowledge gap among pediatric ophthalmologists, prompting a need for heightened awareness in this area.