Need of optical aids for schools for blind students in Pune and Nasik districts and compliance of their use

Purpose: To assess the need for spectacles and low?vision aids (LVA) in students attending schools for the blind and study their compliance with use. Methods: Comprehensive ocular evaluation was performed using a hand?held slit lamp and ophthalmoscope. Vision acuity was measured using a logarithm of the minimum angle of resolution (logMAR) chart for distance, as well as for near. Spectacles and LVAs were dispensed after refraction and LVA trial. Follow?up was performed to assess the vision using the LV Prasad Functional Vision Questionnaire (LVP?FVQ) along with compliance with use after 6 months. Results: Of the 456 students examined from six schools, 188 (41.2%) were female; 147 (32.2%) were <10 years of age. In all, 362 (79.4%) were blind since birth. The students dispensed only LVAs were 25 (5.5%), only spectacles were 55 (12.1%), and both spectacle and LVAs were 10 (2.2%). The vision improved using LVAs in 26 (5.7%) and using spectacles in 64 (9.6%). There was a significant improvement in LVP?FVQ scores (P < 0.001). Also, 68/90 students were available for follow?up, of whom 43 (63.2%) were compliant to use. Causes of not wearing spectacles or LVA in 25 were left somewhere or lost 13 (52%), broken 3 (12%), uncomfortable to use 6 (24%), not interested to use 2 (8%), and got operated 1 (4%). Conclusion: Although the dispensing of LVA and spectacles improved the visual acuity and vision function of 90/456 (19.7%) students, nearly a third were not using them after 6 months. Efforts need to be taken to improve the compliance of use

Tendência temporal da prevalência e mortalidade infantil das anomalias congênitas no Brasil, de 2001 a 2018 / Temporal trends in prevalence and infant mortality of birth defects in Brazil, from 2001 to 2018

Resumo As anomalias congênitas (AC) configuram um relevante problema para a saúde pública global, afetando em média de 3% a 6% dos recém-nascidos em todo o mundo. No Brasil, ocupam a segunda posição entre os principais grupos de causas de óbito infantil. Assim, estudos amplos são necessários para mostrar o impacto das AC na saúde infantil. O presente estudo descreve a tendência temporal da prevalência e da mortalidade infantil por AC entre nascidos vivos (NV) no Brasil e em suas cinco regiões de 2001 a 2018, utilizando dados vinculados entre as bases de dados do Sistema de Informações sobre Nascidos Vivos (SINASC) e do Sistema de Informações sobre Mortalidade (SIM). A prevalência e mortalidade infantil por AC mostrou-se crescente no Brasil na maioria das regiões, principalmente no Norte e no Nordeste. Aquelas do aparelho osteomuscular foram as mais prevalentes ao nascimento (29,8/10.000 NV); as do aparelho circulatório passaram para a segunda posição (12,7/10.000 NV) após a vinculação das bases e representam a primeira causa de morte desse grupo. A técnica de vinculação de dados aplicada corrigiu a prevalência nacional das AC em 17,9% no período analisado, após serem recuperadas as AC notificadas no SIM, mostrando ser uma boa ferramenta para melhorar a qualidade das informações das AC.

Abstract Congenital anomalies (CA) are a relevant problem for global public health, affecting about 3% to 6% of newborns worldwide. In Brazil, these are the second main cause of infant mortality. Thus, extensive studies are needed to demonstrate the impact of these anomalies on births and deaths. The present study describes the temporal trends of prevalence and infant mortality due to CA among live births in Brazil and regions, from 2001 to 2018, using the related data between the Live Birth Information System (SINASC, acronym in Portuguese) and the Mortality Information System (SIM, acronym in Portuguese). The prevalence and infant mortality due to CA has increased in Brazil and in most regions, especially in the Northeast and North. CAs in the musculoskeletal system were the most frequent at birth (29.8/10,000 live births), followed by those in the circulatory system (12.7/10,000 live births), which represented the primary cause of death in this group. The applied linkage technique made it possible to correct the national prevalence of CA by 17.9% during the analyzed period, after retrieving the anomalies reported in SIM, thereby proving to be a good tool to improve the quality of information on anomalies in Brazil.

Actualización en anomalías vasculares de la órbita en pediatría: diagnóstico por imágenes y tratamiento / Update on orbital vascular anomalies in pediatrics: imaging studies and management

Las anomalías vasculares de la órbita (AVO) son un grupo heterogéneo de patologías que pueden presentarse con frecuencia en el cono orbitario, la región periorbitaria o dentro de la órbita misma. Las AVO se dividen en tumores y malformaciones. Su presentación clínica más frecuente es el exoftalmos, asociado o no a alteración del eje visual. Además, pueden presentar complicaciones agudas, como hemorragia intralesional o celulitis entre las más frecuentes, y complicaciones crónicas, como ambliopía y afectación de la agudeza visual a largo plazo. La evolución de las técnicas de imágenes, el uso de nuevos fármacos y la utilización de innovadores procedimientos en radiología intervencionista han posibilitado obtener una mejora significativa en los procesos diagnósticos y terapéuticos de estos pacientes, permitiendo un diagnóstico y tratamiento preciso.

Orbital vascular anomalies (OVAs) are a heterogeneous group of disorders frequently found in the orbital cone, the periorbital region, or within the orbit itself. OVAs are divided into tumors and malformations. The most frequent clinical presentation is exophthalmos, associated or not with an alteration of the visual axis. They may also cause acute complications, being intralesional bleeding or cellulitis the most frequent, and chronic complications, such as amblyopia and long-term visual acuity impairment. The development of imaging techniques, the use of new drugs, and the implementation of innovative procedures in interventional radiology have resulted in a significant improvement in the diagnostic and therapeutic approaches to these patients, essential to an accurate diagnosis and management.

Testicular Volume of Boys Aged 5-17 Years in Relation to Sexual Maturity Rating and Clinical Onset of Puberty in an Urban Setting in Gujarat, India

Background : Assessment of Sexual Maturity Rating and Testicular Volume are indispensable in the routine assessment of puberty in boys. There is paucity of data in Indian population for Testicular Volume particularly in early adolescence. Aims : The aims of the study were to collect data for testicular volume,correlate testicular volume with Sexual Maturity Rating (SMR) and the clinical onset of puberty; and to identify Testicular abnormalities in boys aged 5 to 17 years in an Urban setting in Gujarat, India. Materials and Methods : A prospective observational study was undertaken in boys aged5 to 17years of age from Gujarat from April, 2019 to August, 2019. Mean Testicular Volume was measured with a Prader抯 orchidometer. Parameters like Age, Weight and Height were also measured and Body Mass Index (BMI) was calculated. Pubertal stage was categorized using Tanner staging. Data was statistically analyzed using Microsoft Excel and SPSS software. Results : 977 boys were included in the study. Mean age at SMR stage 2 was 11.22 years. SMR stage 2 was earliest seen at 6 years and latest at 15 years of age. 15% of boys in pre-adolescence, 60% in early adolescence and 94% in middle adolescence showed changes of Puberty. Precocious puberty was detected in 33 boys (3.38%). Delayed Puberty was detected in 4 boys (0.4%) and Undescended Testes in 4 boys (0.4%). Testicular Volume showed positive correlation with Weight, Height and BMI.

Prevalence of congenital malformations from 2015 up to 2019, in Rondônia (RO), Amazon, Brazil / Prevalência de malformações congênitas entre 2015 e 2019 em Rondônia (RO), Amazônia, Brasil

Abstract Objectives: to determine and characterize the prevalence of congenital malformations among live births in Rondônia, from 2015 to 2019. Methods: an ecological study was conducted using publicly available data at Sistema de Informações sobre Nascidos Vivos collected in January 2021. The prevalence of congenital malformation and possible associations were calculated. The strength of the association between variables was measured using the odds ratio. Variables that were statistically significant at the 5% level were selected for adjusted odds ratio calculation using logistic regression models. The R programming language was used for all analyses and interactions with the database. A 95% confidence interval was considered. Results: a total of 1,110 records were analyzed. The overall prevalence of congenital malformation was 8.36, with higher rates observed among mothers over 35 years, those with low educational levels, unmarried status, and preterm birth. Infants with low birth weight and low Apgar scores also had higher prevalence rates of congenital malformations. Conclusion: the prevalence of congenital malformations in the state was similar to the national average, but regional disparities were observed and warrant further investigation.

Resumo Objetivos: determinar e caracterizar a prevalência de malformações congênitas entre nascidos vivos em Rondônia, no período de 2015 a 2019. Métodos: estudo ecológico, com dados públicos disponíveis no Sistema de Informações sobre Nascidos Vivos coletados em janeiro de 2021. Foi calculada a prevalência das malformações e as possíveis associações. A força de associação entre as variáveis foi medida pela razão de odds. Aquelas variáveis consideradas estatisticamente significante ao nível de 5% foram selecionadas para o cálculo de razão de odds ajustada, usando modelo de regressão logística. A linguagem de programação R foi usada para todas as análises e interação com o banco de dados. O Intervalo de Confiança considerado foi de 95%. Resultados: foram analisados 1.110 registros. A prevalência geral de malformação congênita foi de 8,36, sendo maior entre mães com idade acima de 35 anos, baixa escolaridade, solteiras, com partos prematuros; crianças com baixo peso ao nascer e baixos escores de Apgar. Conclusão: a prevalência de malformação congênita no estado foi próxima da nacional, mas houve discrepâncias entre as regiões de saúde que merecem uma investigação futura.

Juvenile scoliosis as the first manifestation of syringomyelia associated with Chiari malformation type I / Escoliosis juvenil como primera manifestación de siringomielia asociada con malformación de Chiari tipo I

Abstract Background: Scoliosis is a spinal deformity that usually manifests as a structural curve determining a variable deformity of the trunk. According to some published series, 4 to 26% of scoliosis initially classified as idiopathic show neurological alterations when studied with nuclear magnetic resonance, such as syringomyelia and Chiari malformation, among the most frequent. Chiari malformations are characterized by descending herniation of the cerebellar tonsils, brainstem, and IV ventricle into the spinal canal. Case report: We present the case of a patient whose first symptomatic manifestation was early-onset scoliosis. The overlapping of some physical examination signs, such as postural lateralization and scoliosis, reinforced the active suspicion of neuroaxis alterations. Conclusions: Early childhood-onset scoliosis should raise a high degree of suspicion for association with neuro-spinal diseases. Although the frequency of Chiari malformation is low, its early approach could reduce the progression of associated comorbidities. An early detection could change the prognosis of the disease.

Resumen Introducción: La escoliosis es una deformidad de la columna que usualmente se manifiesta como una curva estructural que determina una deformidad variable del tronco. Las malformaciones de Chiari se caracterizan por la herniación descendente de las amígdalas cerebelosas, tronco encefálico y IV ventrículo hacia el canal espinal. Según algunas series publicadas, del 4 al 26% de las escoliosis inicialmente catalogadas como idiopáticas muestran alteraciones neurológicas al ser estudiadas con resonancia magnética nuclear, como la siringomielia y malformación de Chiari, dentro de las más frecuentes. Caso clínico: Se presenta el caso de un paciente cuya primera manifestación sintomática fue escoliosis de comienzo temprano. El solapamiento de algunos signos del examen físico, como la lateralización de la postura y la escoliosis, reforzaron la sospecha activa de alteraciones del neuroeje. Conclusiones: La escoliosis de inicio temprano en la infancia debe despertar un alto grado de sospecha de asociación con enfermedades neuro-espinales. Dentro de este contexto, aunque malformación Chiari es de baja frecuencia, su abordaje precoz permitiría disminuir la progresión de comorbilidades asociadas. La detección temprana podría cambiar el pronóstico de la enfermedad.

Defectos del tubo neural en recien nacidos en el hospital de la mujer / Neural tube defects in newborns in women's hospital

OBJETIVO: Conocer la prevalencia al nacimiento de los defectos del tubo neural en recién nacidos del Hospital de la Mujer, La Paz, Bolivia, período comprendido entre el año 2008 - 2017. DISEÑO METODOLÓGICO: Observacional, descriptivo, de corte transversal, retrospectivo. LUGAR: Hospital de la Mujer, a 3650 m.s.n.m. La Paz, Bolivia. MÉTODOS: Se examinaron los expedientes clínicos de todos los recién nacidos del Hospital de la Mujer, en período ya establecido. Para la detección de anomalías congénitas, se utilizaron libros de registro de nacimientos. Se ingresaron los datos a una base Excel, se procedió al análisis de los mismos a través del uso de la estadística descriptiva. RESULTADOS: Se recurrió a registros de 58120 expedientes de recién nacidos, se presentaron 1269 casos con Anomalías Congénitas (2.2%) con una prevalencia al Nacimiento (PN) de 21.83/10.000 RN (22.57/10.000 RN vivos). De dichos 1269 casos, 69 (5.44%) correspondieron a Defectos del Tubo Neural (DTN), con una PN de 11.87/10.000 RN (12.27/10.000 RN vivos), 59.42% DTN asociados al sexo masculino. El tipo de DTN más frecuente evidenciado fue Mielomeningocele (52.17%), y los DTN mortinatos representan el 17.39%. CONCLUSIONS: La llamativa diferencia encontrada, (en relación a la predilección por el sexo masculino), podría sugerir la presencia de una carga genética cuantitativamente mayor (propia de la población estudiada) en la etiología de los DTN en nuestro medio, ya que cuando las condiciones multifactoriales como los DTN afectan al sexo menos frecuentemente descrito, se puede asumir un peso mayor de los factores genéticos en relación a factores ambientales, siguiendo conceptos de heredabilidad y la teoría del umbral para este modo de herencia, sin embargo, somos conscientes que se requiere un tamaño de muestra mayor para arribar a conclusiones más certeras, dichos factores se adicionan al subregistro y posibles sesgos de registro evidenciados durante la realización del estudio.

OBJECTIVE: To know the prevalence at birth of neural tube defects in newborns at Hospital de La Mujer, La Paz, Bolivia, 3650 m.a.s.l, period between 2008 - 2017. PLACE: Women's Hospital, La Paz, Bolivia. METHODS: Observational, descriptive, cross-sectional, retrospective. The clinical records of all newborns were examined, in an already established period. For the detection of congenital anomalies, birth registration books were used. The data were entered into an Excel database, and analyzed through the use of descriptive statistics. RESULTS: 58120 newborn records were examined, 1269 cases with Congenital Anomalies (2.2%) with a prevalence at Birth (PB) of 21.83/10.000 RN (22.57/10.000 RN alive) were presented. Of these 1269 cases, 69 (5,44%) corresponded to Neural Tube Defects (NTD), with a PB of 11.87/10,000 RN (12.27/10,000 RN alive), 59.42% DTN associated with the male sex. The most frequent type of NTD evidenced was Myelomeningocele (52.17%), and stillborn DTNs represented 17.39%. CONCLUSIONS: The distinctive difference found (predilection of NTD for the male sex), could suggest the presence of a quantitatively greater genetic load (typical of the population studied) in the etiology of NTDs in our environment, since when multifactorial conditions affect the less frequently described sex, a greater weight of genetic factors can be assumed compared to environmental factors, following concepts of heritability and the threshold theory for this mode of inheritance; however, we are aware that a larger sample size is needed to arrive at more accurate conclusions, these factors are added to the underreporting and possible recording biases evidenced during the study.

A rare cause of deep vein thrombosis: inferior vena cava agenesis / Agenesia da veia cava inferior: uma causa rara de trombose venosa profunda

Abstract Inferior vena cava agenesis is a rare condition and is often misdiagnosed. This anomaly is asymptomatic in the majority of cases and is usually diagnosed during imaging tests carried out for other purposes. The most frequent manifestation is deep vein thrombosis (DVT) in lower limbs and anticoagulation therapy is the most frequent treatment option. Other techniques such as thrombolysis and venous bypass are also described. We report two cases diagnosed at our institution during the last year, both of which presented with an episode of DVT. We opted for indefinite anticoagulation therapy and both patients remain asymptomatic, after 1 year of surveillance in the first case and 6 months in the second, with no new episodes of DVT. Although it is not a life-threatening anomaly, it is important to make an appropriate diagnosis and provide treatment to improve the symptoms and quality of life of these patients.

Resumo A agenesia da veia cava inferior é uma condição rara e, muitas vezes, mal diagnosticada. Essa anomalia é, na maioria dos casos, assintomática, sendo geralmente diagnosticada durante exames de imagem realizados com outras finalidades. A manifestação mais comum é trombose venosa profunda (TVP) em membros inferiores, e a terapia anticoagulante é a opção de tratamento mais frequente, embora outras técnicas, como trombólise e derivações venosas, também tenham sido descritas. Relatamos dois casos diagnosticados na nossa Instituição no último ano, ambos com episódio de TVP. O tratamento consistiu em anticoagulação por tempo indeterminado e, após 1 ano de acompanhamento no primeiro caso e 6 meses no segundo, ambos os pacientes permanecem assintomáticos, sem novos episódios de TVP. Embora não seja uma anomalia com risco de vida, é importante realizar diagnóstico e tratamento adequados para melhorar os sintomas e a qualidade de vida desses pacientes.

Duplicación 10q23q24, un rearreglo cromosómico asociado a anomalías congénitas múltiples

La duplicación en el brazo largo del cromosoma 10 (10q) es una cromosomopatía poco frecuente caracterizada clínicamente por retraso en el crecimiento prenatal y postnatal asociado a hipotonía, retraso en el desarrollo y hallazgos faciales específicos; que representa un reto diagnóstico en el ámbito clínico. Se presenta el caso de una recién nacida remitida para valoración multidisciplinara al Hospital Universitario San Ignacio en Bogotá, Colombia; en quien se documentó al momento del nacimiento fisura de labio y paladar, hipertelorismo, pabellón auricular con implantación baja e hipertrofia de labios menores. Se realizó resonancia magnética cerebral, la cual reportó pequeños quistes connatales adyacentes a las astas frontales de los ventrículos laterales, sin significado patológico, aparente malrotación de ambos hipocampos, hipertelorismo y queilopalatosquisis bilateral. El reporte del cariotipo con bandeo G confirmó complemento cromosómico 46,XX,dup(10)(q23q24); siendo el primer caso reportado en Colombia.

Duplication on the long arm of chromosome 10 (10q) is a rare chromosomopathy characterized clinically by delayed prenatal and postnatal growth associated with hypotonia, delayed development, and specific facial findings, which represents a diagnostic challenge in the clinical setting. We present the case of a newborn referred for multidisciplinary evaluation at the Hospital Universitario San Ignacio in Bogotá, Colombia; in whom cleft lip and palate, hypertelorism, low-set auricle and hypertrophy of the labia minora were documented at birth. Magnetic resonance imaging of the brain was performed, which reported small connatal cysts adjacent to the frontal horns of the lateral ventricles, without pathological significance, apparent malrotation of both hippocampi, hypertelorism, and bilateral cheilopalatoschisis. The G-band karyotype report confirmed chromosomal complement 46, XX, dup (10) (q23q24); being the first reported case in Colombia.

Association of Congenital Anomalies in Newborns with Maternal and Fetal Factors in North Gujarat Region, India: A Cross-Sectional Analytical Study

Background: Approximately 8 to 15% of perinatal deaths and 13 to 16% of neonatal deaths in India are a result of congenital anomalies. The objective of the research was to studyincidence of clinically detect-able congenital malformations in newborns delivered at secondary and tertiary hospitals and their asso-ciation with maternal and fetal factors. Material and methods: This study include all new-borns delivered at secondary and tertiary care hospi-tals in the Mehsana districts of Gujarat, India from January 1st, 2021 to December 31st, 2021. A total of 6900 consecutive births were examined for visible structural anomalies to determine the overall inci-dence and distribution of congenital malformations and their association with feto-maternal factors. Results: Total numbers of malformed babies were 90 with incidence of 1.30%. Incidence of malformed babies was 1.54% among mother in the age group of 21-35 years, 3.57% among mother with consan-guineous marriage, and 6.67.% among mothers with severe anemia. The incidence was 0.97% in babies <1500 birth weight, 0.97% among live births and 12.5% among preterm babies. Conclusion: Congenital anomalies in newborns are significantly associated with maternal factors like maternal age, consanguinity, previous child with malformation, history of previous abortion and severe anemia and fetal factors such as stillbirth, premature babies, and low birth weight.

AN OBSERVATIONAL STUDY OF SPECTRUM OF CONGENITAL SPINAL DEFECTS IN CHILDREN ATTENDING PAEDIATRIC OUTPATIENT OF A TERTIARY CARE HOSPITAL IN SOUTHERN INDIA

Congenital anomalies in children are not infrequent and the birth defects of cardiovascular and digestive systems are the most common. Congenital spinal defects have prevalence and incidence of about 2.74% and 1-3 per 1000 live births respectively. The range of spinal defects may vary from a tuft of hair with an underlying spina bi?da to various types of spinal dysraphism. This observational study was undertaken to study the spectrum of neural tube defects among children attending the pediatric outpatient of a tertiary care hospital. Twenty-one children were included in the study. Fourteen infants were less than 1-year old and seven were between 2-7 years of age. Fourteen children had meningomyelocele (MMC). The commonest site was in the lumbosacral region. Seven patients of MMC had associated hydrocephalus, and seven had talipes deformity. Other accompanying defects included pes cavus, pectus carinatum, polydactyly and congenital heart defects, seen in one case each. Soft ?uctuant swelling over the spine, kyphoscoliosis, ?accid paralysis of lower extremities, and incontinence of urine were the cardinal symptoms. CT Scan and MRI in these children helped us to assess the quantum of de?cit involving the vertebra and spinal cord. This paper highlights the range of spinal abnormality seen in children with the similar clinical presentation, and therefore the need for neuroimaging in all cases with suspected neural tube defect (NTD) for proper management and prognostication

Impacto psicológico del programa de diagnóstico y tratamiento fetal en las madres / Psychological impact of the fetal diagnosis and treatment program on mothers

El programa de Diagnóstico y Tratamiento Fetal (PDTF) coordina y optimiza el cuidado prenatal y perinatal de pacientes que consultan por alguna anomalía congénita severa (ACS). El servicio de Salud Mental forma parte del equipo interdisciplinario. Objetivo:Evaluar mediante indicadores específicos (estrés en torno a la internación neonatal, depresión, ansiedad, afrontamiento y apoyo social percibido) el impacto psicológico del PDTF en madres de recién nacidos (RN) con ACS internados en Neonatología, comparándolas con un grupo de pacientes con las mismas ACS ingresados por derivación posnatal habitual (DP). Diseño: transversal, comparativo. Población: madres de niños y niñas con ACS internados en neonatología, que cumplan con los criterios de admisión, con consentimiento. Instrumentos de medición: Cuestionario de MOS de Apoyo Social Percibido, Inventario de Depresión de Beck (BDI), Inventario de ansiedad estado/rasgo (STAI), Escala de estrés parental: Unidad de cuidados intensivos (PSS: NICU), Inventario de respuestas de afrontamiento de MOOS (CRI-A). Los datos se analizaron con REDCap y stata 12.0. Resultados: muestra constituida por 83 madres. El 61% tuvo seguimiento en PDTF. No se encontraron diferencias significativas en la edad (M:24a), nivel educativo(55% estudios secundarios o superiores), situación de pobreza (25%), situación conyugal(89% en pareja estable), presencia de red de apoyo(95%). En cuanto a su procedencia el 62% de las madres del PDTF y el 81% de DP provenían de CABA y el Conurbano. Tenían diagnóstico prenatal solo el 31% de las DP. Los diagnósticos más prevalentes de los niños del PDTF fueron gastroquisis (37%) y hernia diafragmática (30%), en los niños con DP cardiopatía (22%) y gastroquisis (19%). Las madres del PDTF presentaron menores niveles de depresión que las de DP. Estas últimas fueron quienes aumentaron en mayor medida su estado de ansiedad con respecto a su rasgo habitual. El apoyo social percibido fue alto en ambos grupos al igual que el afrontamiento por aproximación. Conclusiones: Las intervenciones del programa tuvieron un efecto positivo sobre la ansiedad y la depresión en las madres durante la internación neonatal. (AU)

The Fetal Diagnosis and Treatment Program ( FDTP) coordinates and optimizes prenatal and perinatal care of patients who consult for severe congenital anomalies (SCA). The Mental Health Department is part of the interdisciplinary team. Objective: To evaluate by means of specific indicators (stress around Neonatal Intensive Care Unit (NICU) admission, depression, anxiety, coping, and perceived social support) the psychological impact of the FDTP on mothers of newborns (NB) with SCA admitted to the NICU compared to a group of patients with the same SCA admitted through regular postnatal referral (PR). Design: cross-sectional, comparative study. Population: mothers of children with SCA admitted to the NICU who met the admission criteria and who signed informed consent. Measurement instruments: MOS Social Support Survey, Beck Depression Inventory (BDI), StateTrait Anxiety Inventory (STAI), Parental Stressor Scale: Neonatal Intensive Care Unit (PSS: NICU), Moos Coping Responses Inventory (CRI-A). Data were analyzed using REDCap and Stata 12.0. Results: the sample consisted of 83 mothers. Sixty-one percent were followed up by the FDTP. No significant differences were found in age (M:24y), educational level (55% secondary or higher education), poverty status (25%), marital status (89% in stable relationship), or presence of support network (95%). Regarding their origin, 62% of the FDTP mothers and 81% of the PR mothers came from the city of Buenos Aires and Greater Buenos Aires. Only 31% of the PR children had a prenatal diagnosis. The most prevalent diagnoses in the FDTP children were gastroschisis (37%) and diaphragmatic hernia (30%), and in the PR children, cardiopathy (22%) and gastroschisis (19%). FDTP mothers presented with lower levels of depression than PR mothers. The latter were those who increased their state of anxiety to a greater extent compared to their usual trait. Perceived social support was high in both groups, as was coping by proxy. Conclusions: Program interventions had a positive effect on anxiety and depression in mothers during NICU admission (AU)

Outcome of Surgical Condition of Neonates who Underwent Surgery: A Prospective Study from a Tertiary Care Center

Background: The neonatal period is a highly vulnerable time for an infant, who is completing many of the physiologic adjustments required for extra- uterine survival. If the neonate has a coexisting pathology which needs surgery, this challenge is magnified. Neonatal surgical conditions are unique in their type because some require early diagnosis, prompt surgery and postoperative care to improve the survival and outcome. Objective: The aim of this study was to know the clinical profile of congenital surgical conditions and to estimate the burden and outcome in special new born care unit. Method: The study population include 138 surgical neonate admitted in special new born care unit, department of paediatrics, Kamla Raja Hospital, Gajra Raja Medical College, Gwalior (M.P.) from April 2017 to April 2018 including six month follow up period. Results: Total admission in special new born care unit were 5378 out of which 138 (2.5%) neonates of surgical condition were admitted in the study period. Incidence of neonatal surgical condition was found to be 8.48%. Surgery was performed in 57 (41.30%) neonates. The Commonest neonatal surgical condition was constituted by gastrointestinal system (39.13%). Among gastrointestinal system anomalies, tracheoesophageal fistula were 28.6% of total gastrointestinal system cases. The most common surgical condition encountered was meningomyelocele, 23.36% of total cases. The survival of neonatal surgical condition in hospital was 52.89% and after six month follow up was 26.08%. The overall mortality with neonatal surgical condition in this study was 73.91%. Maternal age, antenatal care, history of congenital malformation, socioeconomic status, mode of delivery, prematurity, type of admission, single or multiple surgical condition, inotropic and ventilation support, post operative complication were significantly associated with final outcome of neonatal surgical condition. Conclusion: High mortality was found in neonates suffering from surgical conditions. Commonest anomaly includes conditions of gastrointestinal tract. Maternal age more than 35 year, poor antenatal care, prematurity, vaginal delivery, extra mural neonate, multiple surgical condition, inotropic and ventilation support and post operative complications were associated with increased mortality.

Detección rápida de aneuploidías para la definición de incompatibilidad con la vida extrauterina independiente / Rapid detection of aneuploidies for definition of incompatibility with independent extrauterine life

OBJETIVO: Analizar la implementación de la prueba rápida de reacción en cadena de la polimerasa cuantitativa y fluorescente (QF-PCR) para la detección de aneuploidías. MÉTODO: Se incluyeron todas las pacientes que se realizaron una QF-PCR entre septiembre de 2017 y mayo de 2021. En todos los casos se consignaron los datos clínicos, ecográficos y de laboratorio, y se efectuó un seguimiento de quienes se realizaron además cariograma y su resultado fue normal. RESULTADOS: Se realizaron 213 procedimientos invasivos genéticos prenatales, siendo 72 para detección rápida de aneuploidía mediante QF-PCR. El promedio de edad de las madres con QF-PCR fue de 37 años y 48 pacientes (67%) tenían menos de 15 semanas de gestación. La QF-PCR demostró aneuploidía de los cromosomas 18, 13 y de triploidía en 21 de 49 casos informados como anormales. De los 22 casos sin sugerencia de alteración, 17 accedieron a proseguir el estudio con cariotipo, que resultó anormal en 6 casos. Hubo 4 casos de discordancia entre la QF-PCR y el cariotipo, que pudo afectar el manejo clínico de la gestación. En 25/72 casos (34,7%) la aneuploidía era letal. CONCLUSIONES: Considerando la necesidad de tener un diagnóstico rápido, pero también completo y que permita un consejo genético apropiado, debería integrarse la QF-PCR a un protocolo de diagnóstico que considere variables clínicas y ecográficas.

OBJECTIVE: To analyze the performance of QF-PCR test for the detection of aneuploidies. METHOD: All patients who underwent QF-PCR from September 2017 to May 2021, were included. Clinical, ultrasound and laboratory data were recorded in all cases, as well as follow-up of the cases, including those performing karyotype and the result was normal. RESULTS: 213 prenatal genetic invasive procedures were performed in the study period, 72 for rapid detection of aneuploidy by QF-PCR. 48 patients (67%) were less than 15 weeks at the time of ultrasound diagnosis. The QF-PCR test demonstrated aneuploidy of chromosomes 18, 13, and triploidy in 21/49 cases reported as abnormal. Of the cases without suggestion of alteration (22), 17 agreed to continue the study with a karyotype, which was abnormal in 6 cases. There were 4 cases of discrepancy between QF-PCR and karyotype, which could affect the clinical management of pregnancy. 25/72 cases (34. 7%) corresponded to lethal aneuploidy. CONCLUSIONS: Our results justify the use of QF-PCR. Considering the need to have a rapid diagnosis, but also complete and that allows appropriate genetic counseling, it is that QF-PCR should be integrated into a protocol that considers clinical and ultrasound variables.

Renal Hypoplasia: Case Literature Review

Introduction: Congenital anomalies of kidney and urinary tract (CAKUT) presents a broad range of disorders including abnormal renal parenchymal development, disrupted parenchymal development, abnormalities of lower urinary tract, urinary collecting system. The knowledge of these anomalies will help the clinicians and surgeons during the procedures of kidney. The purpose of this article is to present one of the cases of renal hypoplasia and the review that highlights renal hypoplasia cases. Methodology: A vertical incision has been made in midline from xiphoid process to pubic symphysis encircling the umbilicus, another incision from pubic symphysis laterally up to the anterior superior iliac tubercle along the iliac crest to expose the abdominal cavity. Details of the position suprarenal gland and the upper poles of the kidneys and external appearance of kidneys in situ were noted. The arrangement of the attached structures such as the hilum with structures passing through, ureter, bladder, abdominal aorta and the inferior vena cava were also noted and recorded. Observation and Result: The size of the left kidney was found small in comparison to right kidney. Coronal section of left kidney also showed a smaller number of renal pyramids, major calyces and minor calyces. Conclusion: The knowledge of anatomical variations of urinary system has a significant role for clinicians and surgeons for diagnosing diseases including congenital anomalies, radiological interpretations, procedures, surgical interventions and management of clinical conditions.

Modelo de monitoreo de comportamientos inusuales o conglomerados de defectos congénitos en el nivel departamental, distrital y municipal, Colombia, 2018 / Monitoring model of unusual behaviors or conglomerates of birth defects at the departmental, district and municipal levels, Colombia, 2018

Resumen Introducción: La información de la vigilancia en salud pública permite la detección de patrones inusuales en los datos, con el fin de que las respuestas de salud pública sean oportunas y contribuyan a la disminución de la morbimortalidad de la población infantil. Objetivos: Describir un modelo de monitoreo diseñado para la identificación de comportamientos inusuales y conglomerados de defectos congénitos, así como el incremento en la frecuencia del evento en comparación con el número de casos notificados históricamente. Materiales y Métodos: Estudio descriptivo retrospectivo que incluye el análisis de los casos notificados al Sistema Nacional de Vigilancia en Salud Pública (SIVIGILA) durante los últimos tres años, agrupados y comparados con las prevalencias de acuerdo con lo reportado por el ECLAM. Se usó la distribución de probabilidades de Poisson y se identificó aquellas entidades territoriales en donde se observan diferencias significativas entre lo esperado y lo observado con un valor de significancia < 0,05 (p < 0,05). Resultados: Se identificaron prevalencias superiores en holoprosencefalia, microcefalia, polidactilia, defectos por reducción de miembro inferior y coartación de la aorta. Los comportamientos inusuales de los defectos congénitos de sistema nervioso central se concentran en anencefalia, espina bífida, hidrocefalia, microcefalia. Conclusiones: Las condiciones particulares de cada municipio y/o departamento y el comportamiento de los defectos congénitos en algunas áreas podría indicar que las mujeres en estado de gestación son susceptibles a mayores riesgos en zonas particulares, y que este riesgo en particular podría ser el resultado de diversas inequidades en salud generadas por las interacciones sociales, ambientales y comportamentales.

Abstract Introduction: The public health surveillance information allows the detection of unusual patterns in the data in order that public health responses are timely and contribute to the reduction of morbidity and mortality of the child population. Objectives: To describe a monitoring model designed for the identification of unusual behaviors and conglomerates of congenital defects, as well as the increase in the frequency of the event in comparison with the number of cases reported historically. Materials and Methods: A retrospective descriptive study that includes the analysis of the cases notified to the Public Health National Surveillance System (SIVIGILA) during the last three years, grouped and compared with the prevalences according to what was reported by the ECLAM. The distribution of Poisson probabilities was used identifying those territorial entities where significant differences were observed between what was expected and what was observed with a value of significance < 0.05 (p < 0.05). Results: Superior prevalences were identified in holoprosencephaly, microcephaly, polydactyly, defects due to reduction of the lower limb and coarctation of the aorta. Unusual behaviors of congenital defects of the central nervous system are concentrated in anencephaly, spina bifida, hydrocephalus, microcephaly. Conclusions: The conditions of each municipality and / or department and the behavior of congenital defects in some areas could indicate that women in pregnancy are susceptible to greater risks areas, and that this risk could be the result of various health inequities generated by social, environmental, and behavioral interactions.

Creation of a Pilot Surgical Program for the Comprehensive Management of Patients with Congenital Urological Malformations / Creación de un programa quirúrgico piloto para el manejo integral de pacientes con malformaciones urológicas congénitas

Objectives Congenital malformations constitute the first cause of morbidity and mortality in childhood in Latin America. That is why, since 2001, a surveillance system for congenital malformations has been implemented in Bogota - Colombia. However, despite the increase in detection, an impact on treatment has not been achieved. The present study describes our experience with a novel social program focused on congenital urologic disorders. Methods The present manuscript is a retrospective observational study. We reviewed two national databases containing patients with congenital malformations. Patients were actively contacted to verify the status of the malformations. Children in whom the malformation was confirmed were offered a free consultation with a multidisciplinary group. After screening for surgical indications, patients were scheduled for surgery. Results Between November 2018 and December 2019, 60 patients were identified. In total 44, attended the consultation; the remaining did not attend due to financial or travel limitations. The most common condition assessed was hypospadias. In total, 29 patients underwent surgery. The total cost of care was of US$ 5,800. Conclusions Active search improves attention times and reduces the burden of disease. The limitations to be resolved include optimizing the transportation of patients and their families, which is a frequent limitation to access health care.

Objetivos Las malformaciones congénitas corresponden a la principal causa de morbimortalidad en la infancia en América Latina, motivo por el cual desde el 2001 se viene implementando un sistema de vigilancia epidemiológica de malformaciones congénitas en Bogotá, Colombia. Sin embargo, a pesar del aumento en la cobertura del reporte obligatorio, no se ha logrado un impacto sobre su tratamiento. Este estudio busca mostrar nuestra experiencia con un programa integral de pacientes con malformaciones urológicas congénitas. Métodos El presente es un estudio observacional retrospectivo. Los menores con malformaciones congénitas fueron identificados en dos bases de datos nacionales que incluyen pacientes con malformaciones congénitas. Los pacientes reportados fueron contactados telefónicamente para verificar el estado actual de la malformación. A aquellos niños en quienes se les confirmó la malformación, se les ofreció de manera gratuita una consulta con un grupo multidisciplinario. Una vez confirmadas las indicaciones quirúrgicas, fueron llevados a cirugía. Resultados Se identificaron 60 pacientes entre noviembre del 2018 y diciembre de 2019. De los pacientes identificados, 44 acudieron a consulta. Los demás no asistieron por limitaciones económicas. La principal condición valorada fue hipospadias. En total, 29 pacientes fueron llevados a cirugía. El costo total de la atención de estos pacientes fue de 22 millones de pesos colombianos. Conclusiones La búsqueda activa mejora los tiempos de atención y reduce la carga de la enfermedad. Una de las limitaciones aun por resolver es optimizar el transporte de los pacientes y sus familias, que resulta una limitación frecuente para el acceso a la salud.

Descriptive epidemiology of external structural birth defects in Enugu State, Nigeria

Objectives: To determine the birth prevalence, trend, and characteristics of external structural birth defects occurrence in Enugu Metropolis, Nigeria. Design: Cross-sectional study involving review of delivery records. Setting: The study was conducted at three tertiary hospitals, one public and two missionary, in Enugu Metropolis. Participants: Mothers and their babies delivered between 1 January 2009 and 31 December 2016 in the study facilities. Main outcome measures: Birth prevalence of defects presented as frequency/10,000 births. Other descriptive variables are presented as frequencies and percentages. Results: There were 21530 births with 133 birth defects (birth prevalence: 61.8/10,000 births) and 1176 stillbirths (stillbirth rate: 54.6/1000 births). The frequencies and birth prevalence (/10,000 births) of recorded defects were: Limb deformities 60(27.9), Neural tube defects (NTDs): 36(16.7), Urogenital system defects: 12(5.6), Gastrointestinal system defects 10(4.6) and Orofacial clefts 4(1.9). Birth defects occurrence showed a rising trend from 2009 to 2016. The mean (SD) age of mothers whose babies had Birth defects was 29.1(4.7) years. Only 62(46.6%) of 133 antenatal clinic folders of these women were traceable for further review. Eighteen (29.0%) had febrile illness in early pregnancy, 9(14.5%) had Malaria, 17(27.4%) had <4 antenatal clinic attendance, 7(11.3%) did not take folic acid and 6(9.7%) took herbal medications during pregnancy. Conclusions: Birth defects occurrence showed a rising trend with limb deformities and NTDs having the highest prevalence. Record keeping was poor at the facilities. Birth defects preventive interventions like folic acid supplementation for women-of-childbearing age should be promoted in Enugu Metropolis.

Atuação da enfermagem no planejamento da assistência ao recém-nascido com anomalias congênitas / Desempeño de enfermería en la plani cación de la asistencia al recién nacido con anomalías congénitas / Nursing performance in planning assistance to the newborn with congenital anomalies

Objetivo: destacar a importância da atuação da enfermagem no planejamento da assistência ao recém-nascido de alto risco com anomalia congênita. Método: Revisão integrativa formada por conteúdos analisados e pesquisados na base de dados SciELO e na plataforma BVS, utilizando os descritores "recém-nascido"; "anomalias congênitas"; "assistência de enfermagem". Como critérios de inclusão foram usados idiomas inglês e português e recorte temporal de 10 anos, foram excluídos estudos disponíveis apenas em resumos e temática insatisfatória à pesquisa. Os dados foram categorizados e analisados por pares para a construção da discussão. Resultados: foram encontrados 67 estudos, destes 10 foram incluídos para a elaboração da pesquisa. Conclusão: A assistência de enfermagem ao recém-nascido de alto risco requer estudo, capacitação e atualização do conhecimento, a maior ferramenta que a enfermagem possui é a SAE, que deve ser realizada por meio de consultas criteriosas primordiais para as condições de detecção precoce de anomalias congênitas em recém-nascidos.(AU)

Objective: to highlight the importance of the role of nursing in planning care for high-risk newborns with congenital anomalies. Method: Integrative review consisting of content analyzed and researched in the SciELO database and in the VHL platform, using the descriptors "newborn"; "congenital anomalies"; "nursing assistance". As inclusion criteria, English and Portuguese language and a 10-year time frame were used, studies available only in abstracts and unsatisfactory research topic were excluded. Data were categorized and analyzed by pairs for the construction of the discussion. Results: 67 studies were found, of which 10 were included for the development of the research. Conclusion: Nursing care for high-risk newborns requires study, training and updating of knowledge, the greatest tool that nursing has is the NCS, which must be performed through careful consultations, essential for the conditions of early detection of congenital anomalies in newborns.(AU)

Objetivo: destacar la importancia del papel de la enfermería en la planificación de la atención al recién nacido de alto riesgo con anomalías congénitas. Método: Revisión integrativa consistente en contenidos analizados e investigados en la base de datos SciELO y en la plataforma BVS, utilizando los descriptores "recién nacido"; "anomalías congénitas"; "Asistencia de enfermería". Como se utilizaron los criterios de inclusión, idioma inglés y portugués y un período de tiempo de 10 años, se excluyeron los estudios disponibles solo en resúmenes y temas de investigación insatisfactorios. Los datos fueron categorizados y analizados por pares para la construcción de la discusión. Resultados: Se encontraron 67 estudios, de los cuales 10 fueron incluidos para la elaboración de la investigación. Conclusión: La atención de enfermería al recién nacido de alto riesgo requiere de estudio, formación y actualización de conocimientos, la mayor herramienta con la que cuenta la enfermería es la ENC, la cual debe realizarse mediante consultas cuidadosas, imprescindibles para las condiciones de detección precoz de anomalías congénitas en el recién nacido.(AU)