Retraso del diagnóstico en un paciente con Hakim Adams / Delayed diagnosis in a patient with Hakim Adams

La hidrocefalia normotensiva es una patología caracterizada por alteración en la marcha, incontencia vesical, déficit cognitivo, hallazgos imagenológicos de ventriculomegalia comunicante y, presión normal de líquido cefalorraquídeo. Por la ambigüedad de sus síntomas y por la falta de criterios imagenológicos muy concluyentes es una patología de difícil diagnóstico inicial; el paciente muchas veces acude a distintos especialistas por síntomas aislados hasta que se relacionan los mismos y, se deriva el caso a Neurología / Neurocirugía. Se presenta el caso de un paciente de 65 años que presentó un cuadro de 2 años de evolución de incontinencia urinaria tratado como alteración de la micción secundaria a una hiperplasia prostática benigna sin mejoría alguna en ese intervalo de tiempo. Luego se agregó al cuadro una alteración en la marcha que fue poco valorada por el paciente y su entorno, sin ser conscientes del déficit cognitivo hasta que se realizó la evaluación neuropsicológica. Si bien el paciente presentaba la triada clásica que caracteriza a la hidrocefalia de presión normal, no fue hasta dos años luego del inicio del cuadro que se llegó al diagnóstico y, fue intervenido quirúrgicamente. Se colocó una válvula de derivación ventrículo peritoneal de presión media, con la cual presentó una evolución favorable y, resolución absoluta de los síntomas.

Normotensive hydrocephalus is a pathology characterized by impaired gait, bladder incontinence, cognitive deficit, images findings of communicating ventriculomegaly and normal cerebrospinal fluid pressure. Due to the ambiguity of its symptoms and the lack of conclusive images criteria, it is difficult initial diagnosis pathology; the patient often goes to different specialists for isolated symptoms until they are related, and the case is referred to Neurology / Neurosurgery. We present the case of a patient who presented a 2-year history of urinary incontinence treated as an alteration of urination secondary to a benign prostatic hyperplasia without any improvement in that time interval. Then a gait disturbance was added to the picture that was poorly valued by the patient and his environment, without being aware of the cognitive deficit until a neuropsychological evaluation. Although the patient presented the classic triad that characterizes normal pressure hydrocephalus, it was not until two years after the onset of the condition that the diagnosis was reached and underwent surgery. A peritoneal ventricular shunt of medium pressure was placed, presenting a favorable evaluation and complete resolution of symptoms.

Increase of incidence of congenital syphilis in santa catarina state between 2007-2017: temporal trend analysis / Aumento da incidência de sífilis congênita no estado de santa catarina no período de 2007 a 2017: análise da tendência temporal

ABSTRACT Objective: To estimate the incidence of congenital syphilis and temporal trends of the reported cases of the disease in the state of Santa Catarina between 2007 and 2017. Methods: Observational study with retrospective cohort design, with secondary data from the Injury of Notification Information System (SINAN). Linear trend test and geoprocessing were performed to verify the behavior of the cases in the period. Results: There were 2,898 reported cases of congenital syphilis in the period, with an average of 2.9 per 1,000 live births in the period. There was an exponential increase of 0.9 percentage points per year, considered statistically significant (p<0.001). There was no difference between the incidences of cases in the different regions of the State. The fatality rate was 8.5%, considering deaths from syphilis, miscarriages and stillbirths. The profile was predominant of white mothers, with low schooling and 11.8% did not perform prenatal care. For this reason, 26.9% of them had a diagnosis of syphilis at the time of delivery. Most of the pregnant women (51.9%) had inadequate pharmacological treatment and 65.1% of the partners were not treated. Conclusions: There was an exponential increase tendency in cases of congenital syphilis in the State of Santa Catarina in the period studied in all regions of the State, which reveals the failure of prenatal care, late diagnosis and inadequate treatment of the pregnant woman and her partner.

RESUMO Objetivo: Estimar a incidência de sífilis congênita e a tendência temporal dos casos notificados da doença no estado de Santa Catarina no período entre 2007 e 2017. Métodos: Estudo observacional com desenho de coorte retrospectiva, com dados secundários coletados no Sistema de Informação de Agravos de Notificação (SINAN). Foi realizado o teste de tendência linear e o geoprocessamento para verificar o comportamento dos casos no período. Resultados: No período, foram notificados 2.898 casos de sífilis congênita, com média de 2,9 a cada mil nascidos vivos. Houve crescimento exponencial de 0,9 ponto percentual ao ano, sendo estatisticamente significante (p<0,001). Não houve diferença entre a incidência de casos nas diferentes regiões do Estado. A taxa de letalidade foi de 8,5%, considerando os óbitos por sífilis, os abortos e os natimortos. O perfil predominante foi de mães da raça branca e com baixa escolaridade. Do total de mães analisadas, 11,8% não realizaram pré-natal - por esse motivo, 26,9% delas tiveram o diagnóstico de sífilis no momento do parto. A maioria das gestantes (51,9%) teve tratamento farmacológico inadequado e 65,1% dos parceiros não foram tratados. Conclusões: No período estudado, houve tendência de aumento exponencial dos casos de sífilis congênita em todas as regiões do Estado de Santa Catarina, o que revela a falha no pré-natal, o diagnóstico tardio e o tratamento inadequado da gestante e do seu parceiro.

Apendicectomías: ¿llega tarde el paciente o las complicamos nosotros? / Appendicectomies: Does the patients arrive late or otherwise are complicated by us?

Appendicitis is the inflammation of the vermiform appendix. Acute appendictis is the most common surgical emergency, and the most frequent cause of abdominal pain. It is considered that between 7 to 12% of the world population will develop the disease in some ciurcumstances of their lifes, being more frequent during the second and third decades. The aim of this study was to evaluate the comlications derivated from the delay in the anagement of the patients with this complaint. Usually, the signs and symptoms are frequently typical and the diagnosis quickly made. However, the classic syndrome may not be evident and the correct diagnosis may be obscure, in whom a delay in diagnosis can result in a lifebreatening situation. Inflammation of the appendix usually results from the obstruction of the appendiceal lumen. The diagnosis of appendicitis depends primarily on the history and physical findings, but confirmation of the diagnosis usually requires appropriate laboratory, radiographic or endoscopic studies. Pain is usually the first simptom. vomiting usually develops. Acute appendicitis should always be included in the differential diagnosis of abdominal pain. Low-grade fewer is usual. The most characteristic sign is point tenderness at Mc-Burney's pint, which is located one third of the distance from the anterior-superior iliac spine to the umbilicus.We present a retrospective analysis, descriptive and observational. In our study the Alvarado score was empliye. The complications observed are detailed, and the results obtained are commented

Coloretal cancer in pregnant women / Cancro colorectal na mulher grávida

Abstract Background Colorectal cancer in pregnancy is a rare pathology with limited high-grade evidence available for guidance. The diagnosis of CRC in pregnant women is usually delayed, and once diagnosis is made, challenges exist as treatment options may be limited. Objective The study aims to highlight the importance of early investigation of symptomatic patients during pregnancy, as well as to update treatment and prognosis in CRC. Methods A literature search in PubMed database, including articles from 2006 to 2016 and cross-research articles with the initial research. Results Pregnancy can limit and contraindicate the utilization of standard diagnostic and therapeutic tools, which in particular can hamper the liberal use of colonoscopy and CT. Physical evaluation and abdominal US are first recommended; besides, MRI or CT may be used, only in indicated cases. Surgery is the main stay of treatment but radiotherapy and chemotherapy have significant role in posterior management of tumour. Conclusions Many studies are needed in order to achieve development in CRC pathogenesis during pregnancy as well as in treatment outcomes. The potential curative treatment of the disease should be the main aim of treatment when considering CRC in pregnancy. However, it is crucial to adapt the treatment to each patient, taking into account conscious decision on pregnancy further management.

Resumo Introdução O cancro colorretal na gravidez é uma patologia rara, com limitada evidência científica para orientação terapêutica. O diagnóstico de cancro coloretal em mulheres grávidas é tardio e, quando o diagnóstico é feito, as opções de tratamento podem ser limitadas. Objetivo O objetivo deste estudo é ressalvar a importância da investigação precoce de pacientes sintomáticas durante a gravidez, assim como avaliar os atuais métodos de tratamento e prognóstico no CCR. Métodos A pesquisa bibliográfica foi realizada na base de dados PubMed, incluindo artigos a partir de 2006 até 2016, assim como artigos de pesquisa cruzada com os artigos iniciais. Resultados A gravidez pode limitar e contra-indicar a utilização de ferramentas de diagnóstico e terapêuticas convencionais, assim como dificultar o uso indiscriminado de colonoscopia e tomografia computadorizada. A avaliação física e a ecografia abdominal são a primeira linha para diagnóstico. No entanto, em casos selecionados, a ressonância magnética ou a tomografia computadorizada também podem ser usadas. A cirurgia é o gold-standard mas a radioterapia e a quimioterapia assumem um papel cada vez mais relevante no tratamento multidisciplinar destes tumores. Discussão Como os sintomas abdominais são comuns na gravidez e cancro coloretal pode simulá-los, o diagnóstico diferencial entre estas duas patologias é crucial, já que intervenções precoces podem ser curativas. Após diagnóstico, o seguimento das grávidas deve ser individualizado, dependendo de vários fatores. Porém, já que atualmente o tratamento do cancro é possível na gravidez, a probabilidade de sobrevivência da paciente não deve ser diminuída devido ao diagnóstico tardio. Conclusões Mais estudos são necessários para saber mais acerca da patogénese do cancro coloretal na gravidez, assim como os resultados após tratamento. O potencial objetivo é o tratamento oncológico do cancro coloretal. No entanto, é crucial adaptar o tratamento a cada paciente, tendo em conta a sua decisão consciente acerca da continuação da gravidez.

Bob marley's disease: cerebral metastasis of acral melanoma / A doença de Bob Marley: metástases cerebrais de melanoma acral

Bob Marley's had a great importance to Jamaica, Caribbean popular music, and Pan-Africanism. Under the name of the Wailers, several Marley's success reggae albums were recorded between 1969 and 1975. After this, at the solo career, he was placed as the most important reggae singer. The disease that ruined Bob Marley was an acral melanoma (right hallux) that had a late diagnosis and treatment, followed by metastases to the abdomen, the lungs and the brain. Seizures have been the warning sign that the melanoma had spread, three years after the initial injury. We presented here the history of the disease of this famous singer and reported another patient with a case quite similar to him, calling his illness as "Bob Marley's disease".

Bob Marley representou um marco para a Jamaica, para a música popular do Caribe, e para o Pan-Africanismo. Com o nome de Wailers, vários álbuns de reggae foram gravados com sucesso entre 1969 e 1975. Em sua carreira solo, ele foi considerado o mais importante cantor de reggae. A doença que dizimou Bob Marley foi um melanoma acral (hálux direito) que teve um diagnóstico e tratamento tardios, seguido de metástases para o abdome, pulmões e encéfalo. Crises convulsivas foram o sinal de alerta, três anos após a lesão inicial, de que o melanoma estava disseminado. Nós apresentamos aqui a história da doença deste famoso cantor e relatamos um outro paciente com um caso similar ao qual denominamos "doença de Bob Marley".

Interpretation of symptoms as a cause of delays in patients with acute myocardial infarction, Istanbul, Turkey

This cross-sectional study aimed to assess interpretation of symptoms as a cause of delays in patients with acute myocardial infarction [AMI]. It was conducted at a university hospital in Istanbul, Turkey. The sample included 93 patients: 73 male, mean age 57.89 [12.13] years. Prehospital delay time ranged from 15 minutes to 10 days, with a median of 2 hours [interquartile range: 9.50]. Patients waited for pain to go away [48.4%] and tried to calm down [39.8%]. Most patients attributed AMI-related symptoms to a reason other than heart disease. In a multivariate logistic regression analysis, the type of AMI was classified based on electrocardiography findings [odds ratio 5.18, 95% confidence interval: 1.69-15.91, P=0.004] and was independently associated with a long prehospital delay time, indicating that patients with ST segment elevation MI would seek early medical care. Misinterpretation of symptoms and misconceptions about emergency treatment during AMI cause delays in admission and may affect treatment

Abdominal mucormycosis in a child: a case report

Abstract A 2-year-old Brazilian female child from the countryside in Bahia State presented with pain in the right flank of the abdomen, accompanied by a daily fever for about 2 weeks before admission. A large mass in the abdomen was resected by the surgical team. The biopsies revealed the mass was an intra-abdominal mucormycosis. However, the diagnosis was late, and despite treatment (amphotericin B) initiation, the patient eventually died.

Leg ulcer in lepromatous leprosy - Case report

Abstract: In Brazil, leprosy is a widespread infectious and contagious disease. Clinicians and specialists view leprosy broadly as a systemic infection, since, in its manifestations, it mimics many conditions, such as rheumatic, vascular, ENT, neurological and dermatological diseases. There are few studies that characterize the factors associated with ulcers in leprosy. These injuries should be prevented and treated promptly to avoid serious problems like secondary infections, sepsis, carcinomatous degeneration and amputations. We describe a patient with ulcers on his legs, involving late diagnosis of lepromatous leprosy.

Caracterización de diagnóstico tardío de cáncer oral en una ciudad brasileña / Characterization of late diagnosis of oral cancer in a Brazilian city

Introduction: oral cancer in Brazil still presents high incidence and mortality rates and has different characteristics throughout the national territory. Although in most cases the diagnosis is late, there is a great possibility for cure when patients are treated early. Objective: to describe the sociodemographic profile of patients with oral squamous cell carcinoma and the possible etiological factors associated. Methods: this was a descriptive prospective cross-sectional study carried out in Napoleão Laureano Hospital, state of Paraíba, from January 2012 to May 2013. The study included patients with advanced-stage oral squamous cell carcinoma identified during clinical examination and confirmed by histopathology. The following variables were assessed: age, sex, comorbidity, smoking, alcohol use, tumor location, time of development, clinical staging, histopathological grading and proposed treatment. Results: a total of 15 cases of patients with stage III and IV oral squamous cell carcinoma were found. Of these, 80 percent were males with a mean age of 62.59 years and lesions affecting predominantly the mouth floor, followed by the tongue. The most common sign was the presence of tumor greater than 3.0-cm diameter, including ulcerated, leukoplastic and erythroplastic areas, in addition to pain and difficulty in feeding and phonation. Conclusion: the majority of patients identified, with advanced-stage squamous cell carcinoma showed moderate cellular differentiation between stages III and IV, and was composed by males with smoking and alcohol drinking habits in the seventh decade of life(AU)

Introducción: el cáncer oral en Brasil todavía presenta altos niveles de incidencia y mortalidad y tiene diferentes rasgos en todo el territorio nacional. En la mayoría de los casos el diagnóstico es tardío. Sin embargo, hay una gran posibilidad de cura cuando es tratado desde el principio. Objetivo: describir el perfil sociodemográfico de los pacientes afectados por carcinoma bucal de células escamosas, así como los posibles factores etiológicos asociados. Métodos: se realizó un estudio descriptivo prospectivo transversal en el hospital Dr. Napoleão Laureano, estado de Paraíba, desde enero de 2012 a mayo de 2013. El estudio incluyó a pacientes con carcinoma oral de células escamosas en estadio avanzado identificado durante el examen clínico y confirmado por histopatología. Se evaluaron las siguientes variables: edad, sexo, comorbilidad, el tabaquismo, el consumo de alcohol, la ubicación del tumor, el tiempo de desarrollo, la estadificación clínica, clasificación histopatológica y el tratamiento propuesto. Resultados: se encontró un total de 15 casos de pacientes con estadio III y IV del carcinoma oral de células escamosas COCE . De estos, 80 por ciento eran hombres con una edad media de 62,59 años. Las lesiones afectaban predominantemente al piso de la boca, seguido de la lengua. El signo clínico más común fue la presencia de tumor mayor que 3,0 cm de diámetro, incluyendo las zonas ulceradas, áreas con leucoplasia y eritroplasia, además de dolor y dificultad en la alimentación y la fonación. Conclusión: la mayoría de los pacientes identificados con carcinoma de células escamosas en estadio avanzado mostró moderada diferenciación celular entre los estadios III y IV. Estos eran hombres con hábitos de fumar y beber en la séptima década de la vida(AU)

Factors affecting visual loss and visual recovery in patients with pseudotumor cerebri syndrome / Fatores que influenciam na perda e na recuperação visual de pacientes com a síndrome do pseudotumor cerebral

ABSTRACT Purpose: To investigate the frequency of visual loss (VL), possible predictive factors of VL, and improvement in patients with pseudotumor cerebri (PTC) syndrome. Methods: We reviewed 50 PTC patients (43 females, seven males) who underwent neuro-ophthalmic examination at the time of diagnosis and after treatment. Demographic data, body mass index (BMI), time from symptom onset to diagnosis (TD), maximum intracranial pressure (MIP), occurrence of cerebral venous thrombosis (CVT), and treatment modalities were reviewed. VL was graded as mild, moderate, or severe on the basis of visual acuity and fields. Predictive factors for VL and improvement were assessed by regression analysis. Results: The mean ± SD age, BMI, and MIP were 35.2 ± 12.7 years, 32.0 ± 7.5 kg/cm2, and 41.9 ± 14.5 cmH2O, respectively. Visual symptoms and CVT were present in 46 and eight patients, respectively. TD (in months) was <1 in 21, 1-6 in 15, and >6 in 14 patients. Patients received medical treatment with (n=20) or without (n=30) surgery. At presentation, VL was mild in 16, moderate in 12, and severe in 22 patients. Twenty-eight patients improved and five worsened. MIP, TD, and hypertension showed a significant correlation with severe VL. The best predictive factor for severe VL was TD >6 months (p=0.04; odds ratio, 5.18). TD between 1 and 6 months was the only factor significantly associated with visual improvement (p=0.042). Conclusions: VL is common in PTC, and when severe, it is associated with a delay in diagnosis. It is frequently permanent; however, improvement may occur, particularly when diagnosed within 6 months of symptom onset. .

RESUMO Objetivo: Investigar a frequência de perda visual (PV) e os possíveis fatores preditivos para perda e para melhora visual em pacientes com a síndrome do pseudotumor cerebral (SPC). Métodos: Foram revisados 50 pacientes com SPC submetidos a exame neuroftalmológico no momento do diagnóstico e após o tratamento. Dados demográficos, índice de massa corpórea (IMC), tempo decorrido entre o início dos sintomas e o diagnóstico (TD), pressão intracraniana máxima (PIM), ocorrência de trombose venosa cerebral (TVC), e as modalidades de tratamento foram revisadas. PV foi graduada em discreta, moderada e grave, baseada na acuidade e no campo visual. Fatores preditivos para perda e melhora visual foram avaliados por análise de regressão linear. Resultados: Quarenta e três pacientes eram do sexo feminino. A média de idade, o IMC e a PIM (± desvio padrão) foram: 35,2 ± 12,7 anos, 32,0 ± 7,5 kg/cm2 e 41,9 ± 14,5 cmH2O, respectivamente. Sintomas visuais estavam presentes em 46 e TVC em 8 pacientes. TD (em meses) foi <1 em 21, 1-6 em 15 e >6 em 14 pacientes. Pacientes receberam tratamento clinico apenas (n=30) ou associado a tratamento cirúrgico (n=20). Na apresentação a PV era discreta em 16, moderada em 12 e grave em 22 pacientes. Vinte e oito pacientes melhoraram e 5 pioraram. PIM, TD e hipertensão arterial correlacionaram significativamente com PV grave. O melhor fator preditivo para PV grave foi o TD>6 meses (p=0,04; razão de chances 5,18). TD entre 1 e 6 meses foi o único fator significativamente associado com melhora visual após tratamento (p=0,042). Conclusões: Perda visual é comum na SPC e quando grave se mostra relacionado a atraso no diagnóstico. É usualmente permanente mas pode haver melhora visual especialmente quando a doença é diagnosticada nos primeiros 6 após o início dos sintomas. .

Endometriosis is an important cause of pelvic pain in adolescence / Endometriose é causa importante de dor pélvica na adolescência

Objective: despite endometriosis being a common disease, where early detection is key to preventing its progression, it is a condition often overlooked in adolescents. The aim of this study was to report the clinical characteristics of adolescent patients with endometriosis monitored in a tertiary hospital. Methods: a retrospective study of 394 patients undergoing surgery with a histological diagnosis of endometriosis at the Endometriosis Division of the Gynecology Department at the Hospital das Clínicas of the University of São Paulo Medical School from 2008 to 2013. 21 adolescents were included (aged under 21 years). Results: the age ranged from 17.95 ± 1.48 years, the average time for diagnostic confirmation was 2.96 ± 2.93 years, and the age at the onset of symptoms was 15.28 ± 3.03 years on average. The sites affected were ovarian (38%), peritoneal (47.6%) and retrocervical (23.8%). Dysmenorrhea was found in 80.9 % of adolescents (severe in 33.3% of cases) and chronic pelvic pain in 66.6%. Conclusion: endometriosis in adolescents is an important differential diagnosis from pelvic pain and ovarian cysts, mainly among those with no response to conventional treatment. The main forms of involvement are peritoneal and ovarian. Despite the onset of symptoms in adolescence and advances in imaging methods, the diagnosis of this disease is still delayed. .

Objectivo: embora a endometriose seja uma doença prevalente, cujo diagnóstico precoce é fundamental para a prevenção de sua progressão, é uma condição frequentemente negligenciada em adolescentes. O objetivo deste estudo é levantar as características clínicas das pacientes adolescentes com endometriose acompanhadas em um hospital terciário. Métodos: levantamento retrospectivo de 394 pacientes submetidas à cirurgia com diagnóstico histológico de endometriose no Setor de Endometriose da Divisão de Clínica de Ginecologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, de 2008 a 2013. Foram incluídas 21 adolescentes (idade menor de 21 anos). Resulados: a idade média foi de 17,95±1,48 anos, a média de tempo para a confirmação diagnóstica foi de 2,96±2,93 anos e a idade do início dos sintomas foi em média de 15,28±3,03 anos. Os locais de acometimento foram ovariano (38%), peritoneal (47,6%) e retrocervical (23,8%). Dismenorreia esteve presente em 80,9% das adolescentes (sendo severa em 33,3% dos casos) e dor pélvica crônica em 66,6%. Conclusão: endometriose em adolescentes é um importante diagnóstico diferencial de dor pélvica e cistos anexiais, principalmente entre aquelas sem resposta ao tratamento convencional. As principais formas de acometimento são peritoneais e ovarianas. Apesar do início dos sintomas na adolescência e dos avanços nos métodos de imagem, ainda se observa demora no diagnóstico dessa doença. .

Glycogen storage disease type I: clinical and laboratory profile / Doença de depósito de glicogênio tipo I: perfil clínico e laboratorial

OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism. METHODS: This was a cross-sectional outpatient study based on a convenience sampling strategy. Data on diagnosis, management, anthropometric parameters, and follow-up were assessed. RESULTS: Twenty-one patients were included (median age 10 years, range 1-25 years), all using uncooked cornstarch therapy. Median age at diagnosis was 7 months (range, 1-132 months), and 19 patients underwent liver biopsy for diagnostic confirmation. Overweight, short stature, hepatomegaly, and liver nodules were present in 16 of 21, four of 21, nine of 14, and three of 14 patients, respectively. A correlation was found between height-for-age and BMI-for-age Z-scores (r = 0.561; p = 0.008). CONCLUSIONS: Diagnosis of glycogen storage disease type I is delayed in Brazil. Most patients undergo liver biopsy for diagnostic confirmation, even though the combination of a characteristic clinical presentation and molecular methods can provide a definitive diagnosis in a less invasive manner. Obesity is a side effect of cornstarch therapy, and appears to be associated with growth in these patients. .

OBJETIVOS: Caracterizar o perfil clínico, laboratorial e antropométrico de uma amostra de pacientes brasileiros com doença de depósito de glicogênio tipo I tratados em um ambulatório de referência para erros inatos do metabolismo. MÉTODOS: Este foi um estudo ambulatorial transversal com base em uma estratégia de amostragem de conveniência. Foram avaliados os dados com relação ao diagnóstico, tratamento, parâmetros antropométricos e acompanhamento. RESULTADOS: Foram incluídos 21 pacientes (idade média de 10 anos, faixa 1-25 anos de idade), e todos se encontravam em terapia de amido de milho cru. A idade média na época do diagnóstico foi de sete meses (faixa, 1-32 meses), e 19 pacientes foram submetidos a biópsia hepática para confirmação do diagnóstico. Sobrepeso, baixa estatura, hepatomegalia e nódulos hepáticos foram fatores presentes em 16 de 21, quatro de 21, nove de 14 e três de 14 pacientes, respectivamente. Foi encontrada uma correlação entre os escores z para peso para idade e IMC para idade (r = 0,561; p = 0,008). CONCLUSÕES: O diagnóstico da doença de depósito de glicogênio tipo I tem sido tardio no Brasil. A maioria dos pacientes foi submetida a confirmação do diagnóstico, apesar de o quadro clínico característico e os métodos moleculares poderem fornecer um diagnóstico definitivo de forma menos invasiva. Obesidade é um efeito colateral da terapia com amido de milho e parece estar associada a crescimento nesses pacientes. .

Hemorrhagic shock secondary to button battery ingestion / Choque hemorrágico secundário à ingestão de bateria em disco

CONTEXT: Button battery ingestion is a frequent pediatric complaint. The serious complications resulting from accidental ingestion have increased significantly over the last two decades due to easy access to gadgets and electronic toys. Over recent years, the increasing use of lithium batteries of diameter 20 mm has brought new challenges, because these are more detrimental to the mucosa, compared with other types, with high morbidity and mortality. The clinical complaints, which are often nonspecific, may lead to delayed diagnosis, thereby increasing the risk of severe complications. CASE REPORT: A five-year-old boy who had been complaining of abdominal pain for ten days, was brought to the emergency service with a clinical condition of hematemesis that started two hours earlier. On admission, he presented pallor, tachycardia and hypotension. A plain abdominal x-ray produced an image suggestive of a button battery. Digestive endoscopy showed a deep ulcerated lesion in the esophagus without active bleeding. After this procedure, the patient presented profuse hematemesis and severe hypotension, followed by cardiorespiratory arrest, which was reversed. He then underwent emergency exploratory laparotomy and presented a new episode of cardiorespiratory arrest, which he did not survive. The battery was removed through rectal exploration. CONCLUSION: This case describes a fatal evolution of button battery ingestion with late diagnosis and severe associated injury of the digestive mucosa. A high level of clinical suspicion is essential for preventing this evolution. Preventive strategies are required, as well as health education, with warnings to parents, caregivers and healthcare professionals. .

CONTEXTO: A ingestão de bateria em disco é queixa frequente em pediatria. As complicações graves decorrentes de ingestão acidental têm aumentado significativamente nas últimas duas décadas, devido ao fácil acesso aos aparelhos e brinquedos eletrônicos. Nos últimos anos, o aumento do uso de baterias de lítio com diâmetro de 20 mm trouxe novos desafios, por serem mais prejudiciais para a mucosa em comparação com outros tipos, com elevada morbidade e mortalidade. As queixas clínicas, muitas vezes inespecíficas, podem levar ao atraso no diagnóstico, aumentando o risco de complicação grave. RELATO DE CASO: Menino de cinco anos, com queixa de dor abdominal há 10 dias, é trazido ao serviço de emergência com quadro clínico de hematêmese há duas horas. Na admissão, apresentava palidez, taquicardia e hipotensão. Imagem sugestiva de bateria em disco foi visualizada na radiografia simples de abdome. A endoscopia digestiva demonstrou lesão ulcerada profunda no esôfago sem sangramento ativo. Após o procedimento, o paciente apresentou hematêmese profusa e hipotensão grave, seguidos de parada cardiorrespiratória (PCR), revertida. Submetido a laparotomia exploradora de urgência, apresentou novo episódio de PCR, sem reversão. A bateria foi removida por exploração retal. CONCLUSÃO: Este caso descreve a evolução fatal de ingestão da bateria em disco com diagnóstico tardio e associação com lesão grave de mucosa digestiva. Alto nível de suspeita clínica é obrigatório para evitar tal evolução. As estratégias de prevenção são necessárias, bem como a educação em saúde, com alerta aos pais, cuidadores e profissionais de saúde. .

XDR-TB: An outcome of programmatic management of TB in India.

A significantly strengthened Revised National Tuberculosis Control Programme (RNTCP) is currently operational in India. In this case-based commentary, we describe the plight of a patient who developed extensive drug-resistant tuberculosis (XDR-TB) despite having received treatment under the RNTCP for a long period. Our aim is to analyse the programmatic management of tuberculosis in India by highlighting and discussing various issues related to the treatment received by the patient. Further, the article explores whether there is a need to incorporate an ethical element into the RNTCP as it stands today.

O atraso no diagnóstico da tuberculose / El retraso en el diagnóstico de la tuberculosis / The delay in diagnosis of tuberculosis

Objetivo: investigar estudos relacionados ao atraso do diagnóstico da tuberculose. Método: revisão de literatura no período de 2005 a 2010 em bases de dados eletrônicas. Resultados: foram selecionados 13 estudos de acordo com a temática, houve predomínio de estudos originais com abordagem quantitativa. Conclusão: o atraso no diagnóstico da tuberculose não é uma preocupação recente, principalmente nos países com altos índices de tuberculose. Quanto ao tipo de atraso, faz-se necessário investigar se é do serviço de saúde ou dos indivíduos com tuberculose. De forma geral, os aspectos que influenciam no tempo para o diagnóstico da TB estão relacionados com cada localidade, que possuem características peculiares

Objective: to investigate studies related to delay in diagnosis of tuberculosis. Method: A literature review in the period from 2005 to 2010 in electronic databases. Results: 13 studies were selected according to the theme, there was a predominance of original studies with quantitative approach. Conclusion: the delay in the diagnosis of tuberculosis is not a recent concern, especially in countries with high rates of tuberculosis. Regarding the type of delay, it is necessary to investigate whether the health service or the individuals with TB. In general, the factors influencing the time for diagnosis of TB are connected with each location having peculiar characteristics

Objetivo: investigar los estudios relacionados con el retraso en el diagnóstico de la tuberculosis. Método: Una revisión de la literatura en el período de 2005 a 2010 en las bases de datos electrónicas. Resultados: 13 estudios fueron seleccionados de acuerdo con el tema, hubo un predominio de los estudios originales con enfoque cuantitativo. Conclusión: el retraso en el diagnóstico de la tuberculosis no es un problema reciente, especialmente en los países con altas tasas de tuberculosis. En cuanto al tipo de retraso, es necesario investigar si el servicio de salud o las personas con TB. En general, los factores que influyen en el tiempo para el diagnóstico de TB están conectados con cada ubicación que tiene características peculiares

Retraso en el diagnóstico de lepra como factor pronóstico de discapacidad en una cohorte de pacientes en Colombia, 2000 - 2010 / Delay in leprosy diagnosis as a predictor of disability in a cohort of patients in Colombia, 2000 - 2010

OBJETIVO: Evaluar los factores pronósticos de la presencia de discapacidad al momento del diagnóstico de lepra en una cohorte de pacientes colombianos de 2000 a 2010. MÉTODOS: Estudio analítico y observacional descriptivo de una cohorte retrospectiva de pacientes ingresados con diagnóstico de lepra en el Centro Dermatológico Federico Lleras Acosta, de Bogotá, Colombia, entre 2000 y 2010. Se realizó el análisis descriptivo de las variables y se identificaron factores pronósticos de la presencia de discapacidad al momento del diagnóstico mediante análisis simple y multifactorial (modelo de riesgos proporcionales de Cox); se calcularon las razones de riesgo (hazard ratio) para cada uno de los factores incluidos en el modelo. RESULTADOS: El tiempo entre los primeros síntomas y el diagnóstico en los 333 pacientes de la cohorte fue en promedio 2,9 años; 32,3% de ellos tenían algún grado de discapacidad, especialmente en los pies. Hubo una mayor proporción de retraso en el diagnóstico y discapacidad en hombres que en mujeres y en pacientes con lepra multibacilar que con paucibacilar. La discapacidad se asoció significativamente con demoras ≥ 1 año en el diagnóstico, edad ≥ 30 años, índice baciloscópico inicial ≥ 2, lepra multibacilar y proceder de Cundinamarca o Santander. Los factores protectores fueron ser del sexo femenino, tener algún grado de escolaridad y residir en Boyacá. CONCLUSIONES: El tiempo entre los primeros síntomas y el diagnóstico constituye el factor pronóstico clave de la discapacidad al momento del diagnóstico de lepra. Se recomienda reforzar la búsqueda activa de personas infectadas y promover el diagnóstico precoz.

OBJECTIVE: Evaluate predictive factors of disability at time of leprosy diagnosis in a cohort of Colombian patients, from 2000 to 2010. METHODS: Descriptive and analytical observational study of a retrospective cohort of patients admitted with a leprosy diagnosis to the Centro Dermatológico Federico Lleras Acosta in Bogotá, Colombia, from 2000 to 2010. Variables were analyzed descriptively and predictive factors for disability at diagnosis were identified through simple and multifactorial analyses (Cox proportional hazards model); hazard ratios for each factor in the model were calculated. RESULTS: Time between first symptoms and diagnosis in the 333 cohort patients was 2.9 years on average; 32.3% had certain degree of disability, especially for the feet. Delay in diagnosis and disability was greater in men than in women and in patients with multibacillary rather than paucibacillary leprosy. Disability was significantly associated with delays of ≥ 1 year in diagnosis, age ≥ 30 years, initial bacillary index of ≥ 2, multibacillary leprosy, and natives of the Cundinamarca or Santander departments. Protective factors were female sex, having some education, and residence in Boyacá. CONCLUSIONS: Time between first symptoms and diagnosis is the key predictive factor of disability at time of leprosy diagnosis. Strengthening of active searching for infected people and promotion of early diagnosis are recommended.

Fibrosis quística: diagnóstico tardío en el adulto presentación de caso / Delayed diagnosis of the cystic fibrosis in adulthood: a case report

Se presenta el caso de un paciente blanco de 47 años con cuadros respiratorios a repetición que cedían con tratamiento sintomático o con el uso de antibióticos por vía oral desde la infancia. A los 39 años de edad, comenzó con agudizaciones más frecuentes que requirieron tratamientos con antibióticos e ingresos en varios hospitales de Ciudad de La Habana, y se le diagnosticó Bronquiectasias diseminadas bilaterales e infectadas con Pseudomonas Aeruginosas, secundarias a una posible Tuberculosis adquirida en la antigua URSS a los 21 años. La falta de lesiones hacia los vértices pulmonares en la radiografía de tórax y el hecho de no haber nunca tenido hijos despertó la sospecha clínica de Fibrosis Quística, la cual fue confirmada por los estudios realizados posteriormente. Nuestro propósito al presentar este caso es alertar que esta enfermedad ha dejado de ser una patología exclusiva de Pediatría y que debe sospecharse ante un cuadro florido de bronquiectasias(AU)

The case of a 47 years old white patient, that presented repeated respiratory symptoms that only improve using symptomatic treatment or oral antibiotics. In 2000 when, he was 39 years old their symptoms increased and he required antibiotic intensive treatment and incomes at several hospital in Havana. After that, he was diagnosed with multiple bronchiectasis spread bilateral and infected Pseudomona Auriginosa, that could brings about, TB acquired at URSS when he was 21 years old. In 2008 because of the absence of lesions toward pulmonary apex in the Rx and the fact he couldn't have children aroused the clinical suspicion of Cystic Fibrosis and it was later confirmed by the accomplished studies. Our purpose to present this case is to alert and prevent that this disease has stopped being Pediatric's exclusive pathology and it should be taking into account when there is a complete picture of a multiple spread bronchiectasis(AU)