Hair cross-sectioning in uncombable hair syndrome: An epoxy embedding technique.

Uncombable hair syndrome is a rare disorder of the hair shaft that leads to silvery and unruly hair. The hair shaft anomaly is characterized by a longitudinal groove that is detected by scanning electronic microscopy-considered to be the gold standard for diagnosis. Recently, hair cross-sectioning has been reported as a viable alternative, but currently available methods still have some flaws, especially because of hair samples' processing specificities. Here, we present two cases of uncombable hair syndrome and a new embedding technique using epoxy to perform the diagnosis.

Annular elastolytic giant cell granuloma: a "visible" diagnosis.

Annular elastolytic giant cell granuloma (AEGCG) is a rare granulomatous skin disease of undetermined cause, characterized by annular plaques with raised erythematous borders in sun-exposed skin. The typical histologic features are dermal infiltration by multinucleated giant cells, elastin degeneration, and elastophagocytosis. The authors describe a clinical case of AEGCG, which exhibited an excellent response to hydroxycloroquine.

ACTH-producing adrenocortical carcinoma: an exceedingly rare diagnosis.

BACKGROUND: Adrenocortical carcinoma is a very rare endocrinopathy that has a poor prognosis and is frequently associated with ACTH-independent Cushing's syndrome. Despite having an adrenocortical carcinoma, our patient surprisingly had an ACTH-dependent Cushing's syndrome. CASE REPORT: A 26-year-old female presented with Cushing's syndrome and an abdominal mass. Imaging studies revealed an adrenal mass consistent with a high-grade malignancy. Laboratory workup showed hypercortisolism, hyperandrogenism, and hypokalemia with normal levels of metanephrines. Unexpectedly, her ACTH levels were remarkably elevated. The pathological analysis of a tumor sample was conclusive for adrenocortical carcinoma with immunopositivity for ACTH. CONCLUSIONS: Our patient suffered from an adrenocortical carcinoma that was ectopically producing ACTH. This case emphasizes that physicians should have a broad-minded approach when evaluating cases of rare endocrine malignancies.

Comparison of Cytological Adequacy between 23- and 25-Gauge in Ultrasound-Guided Fine-Needle Aspiration of Thyroid Nodules: A Single-Center Prospective Study.

INTRODUCTION: Approximately 15% of fine-needle aspiration (FNA) of thyroid nodules are considered nondiagnostic. Several factors are potentially involved, including clinical and nodule features but also the gauge (G) of the needle used. However, few studies have compared the cytological adequacy obtained with different gauge needles and the data are controversial. We aimed to evaluate cytological adequacy results using 23- or 25-G needles. METHODS: This study is an observational and prospective study of thyroid nodules submitted to ultrasound-guided FNA. The procedure was performed randomly using 23- or 25-G needles. The samples were reported by different cytopathologists who were blinded to the information of the gauge of the needle used. Statistical analysis was performed to compare cytological adequacy of FNA between the two groups. RESULTS: A total of 177 thyroid nodules were included - 98 (55.4%) using 23-G and 79 (44.6%) using 25-G needles. The 23-G group presented a higher rate of cytological adequacy (69.4% [68/98] vs. 46.8% [37/79], p = 0.002). No differences were found between the two groups regarding patient or nodule characteristics. On logistic regression, 23-G needles correlated with better cytological adequacy (unadjusted OR 2.57 [95% CI: 1.39-4.77]), even after adjusting for nodule dimension, location, and type of cytology (slides +/- additional liquid-based cytology) (adjusted OR 2.44 [95% CI: 1.23-4.84]). CONCLUSION: The gauge of the needle used was found to be an independent predictor of cytological adequacy, with 23-G needles providing more adequate samples. Further investigation is needed to confirm our results in order to stablish the optimal diagnosis technique.

Metastatic Myoepithelial Carcinoma Ex Pleomorphic Adenoma of the Sublingual Salivary Gland.

Myoepithelial carcinoma ex pleomorphic adenoma is a very rare malignant neoplasm of the salivary gland. Owing to its rarity, its clinical features and treatment are not well characterized. We describe a case of a patient who was referred to our department with a six-month history of a bulge on the right side of the floor of the mouth and a submandibular mass with progressive enlargement. The mass was resected, and an elective level I neck dissection was performed. Histological examination revealed myoepithelial carcinoma ex pleomorphic adenoma of the sublingual salivary gland. Thoracic computed tomography and biopsy revealed lung metastases. The patient died two years after the diagnosis.

Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives.

In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). Hereditary leiomyomatosis and renal cell cancer (HLRCC) is now linked to a germline mutation in the fumarate hydratase (FH) gene that encodes a Krebs cycle enzyme, transforming fumarate to malate. The accumulation of fumarate, an oncometabolite, promotes tumorigenesis. We present a case of a 41-year-old female diagnosed with HLRCC after a radical nephrectomy due to renal cell cancer. Genetic analyses confirmed a novel FH mutation. Close follow-up allowed for a precocious diagnosis of a metachronous renal tumor and later a hepatic metastasis. Her family was also counseled and offered genetic testing. As observed in this case, the diagnosis of HLRCC is of paramount importance for patients and their families: there is a 15% cumulative lifetime risk of developing RCC, which frequently occurs in young patients and metastasizes at an early stage. Implementing a regular follow-up with adequate imaging examinations may help save lives.

Colon tumor CD31 expression is associated with higher disease-free survival in patients with metabolic syndrome.

Metabolic syndrome (MS) is recognized as a risk factor for colon cancer (CC). However, how does the interplay between metabolic dysfunction caused by MS and its individual components affect CC microenvironment and prognosis remains unexplored. Angiogenesis and lymphangiogenesis are fundamental processes for tumor progression and dissemination, ensuring oxygen and nutrient delivery and supporting one of the most important pathways of tumor dissemination, contributing to metastasis. Thus, our aim was to evaluate whether the expression of molecular biomarkers involved in angiogenic and lymphangiogenic processes influenced CC clinicopathological features and prognosis in patients with MS. Clinical and pathological data of 300 patients submitted to CC surgical resection at a single tertiary hospital were retrospectively retrieved from hospital records. Tumor tissue microarrays of archived paraffin-embedded blocks were used to assess CD31, VEGF-A and D2-40 tissue expression by immunohistochemistry. The percentage of stained area was quantified by computerized morphometric analysis. No association between tissue expression of angiogenesis and lymphangiogenesis biomarkers and tumor clinical and pathological characteristics was found. However, in subgroup analysis of patients with MS, dysglycemia was associated with lower D2-40 expression (p = 0.007) and high waist-circumference was associated with higher D2-40 (p = 0.0029) and VEGF-A expression (p = 0.026). In an adjusted Cox proportional hazard model CD31 expression was significantly associated with greater disease-free survival (HR=0.62; 95% CI: 0.41-0.95, p = 0.028). No association was found between D2-40 and VEGF-A expression and CC prognosis. Our data reinforces previous reports that suggest the potential use of CD31 as a CC prognostic biomarker. Additionally, our data further supports the evidence for an interplay between metabolic dysfunction, tumor microenvironment, and vascularization pathways.

Pleural effusion and multiple myeloma - more than meets the eye: A case report.

Multiple myeloma (MM) accounts for 1% of all cancers. It consists of malignant proliferation of plasma cells, which is often associated with hypersecretion of a monoclonal protein. Pleural effusion (PE) in MM is not an uncommon finding, comprising about 6-14% of patients with MM. The most common causes of MM-associated PE are congestive heart failure, renal failure, parapneumonic effusion and amyloidosis. In <1% of cases, the effusion is a direct result of MM, designated as myelomatous PE (MPE). MPE is usually a diagnosis of exclusion and carries a poor prognosis. Therefore, efforts should be made to optimally detect MPE. The present report describes an MPE associated with IgG/λ MM presenting as a septic shock and renal failure in which a rare diagnosis was made after excluding all other possible etiologies in a complex intensive care patient.

The Canadian Primary Health Care Systems from a Brazilian perspective: discussing Starfield's Attributes. / O(s) Sistema(s) Primário(s) de Saúde Canadense sob uma perspectiva brasileira: discutindo os Atributos Starfield.

This paper reviews the Starfield pillars and the Canadian health system. An objective and subjective evaluation are applied to the system through the lenses of access, longitudinality, integrality, and coordination of care. System vulnerabilities, actions, and proposals that are underway to improve these aspects, both nationally and in the province of Ontario, are discussed. Worth highlighting is the opportunity to establish a national free drug system, and the several challenges to advance the agenda of reforms.

Os pilares Starfield são revistos assim como o sistema de saúde canadense. Avaliação objetiva e subjetiva são aplicadas ao sistema sob as lentes do acesso, longitudinalidade, integralidade e coordenação de cuidados. Discutem-se as vulnerabilidades do sistema e as ações e propostas que estão em curso para tentar melhorar esses aspectos, tanto nacionalmente como na província de Ontário. Destaque para a oportunidade de se criar um sistema gratuito de medicamentos e os diversos desafios para avançar a agenda de reformas.

Fatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies.

INTRODUCTION: Lipodystrophies are a heterogeneous group of rare diseases (genetic or acquired) characterized by a partial or generalized deficit of adipose tissue, resulting in less energy storage capacity. They are associated with severe endocrine-metabolic complications with significant morbidity and mortality. In the pathogenesis of the acquired forms, immunological disorders may be involved. CASE 1: A 13-year-old female was diagnosed with acquired generalized lipodystrophy and observed for suspicion of portal hypertension. She presented with generalized absence of adipose tissue, cervical and axillary acanthosis nigricans, and massive hepatosplenomegaly. Laboratory tests revealed AST 116 IU/L, ALT 238 IU/L, GGT 114 IU/L, HOMA-IR 28.2, triglycerides 491 mg/L, and leptin < 0.05 ng/mL. Upper gastrointestinal endoscopy saw no signs of portal hypertension. Hepatic histology showed macrovesicular fatty infiltration (60% of hepatocytes) and advanced fibrosis/cirrhosis. Her clinical condition worsened progressively to diabetes requiring treatment with subcutaneous insulin and hepatopulmonary syndrome. CASE 2: A 15-year-old female, diagnosed with acquired partial lipodystrophy, Parkinson syndrome, autoimmune thyroiditis, and autoimmune thrombocytopenia was observed for hypertransaminasemia since the age of 8 years. She had absence of subcutaneous adipose tissue in the upper and lower limbs and ataxia. Laboratory tests showed AST 461 IU/L, ALT 921 IU/L, GGT 145 IU/L, HOMA-IR 32.6, triglycerides 298 mg/dL, normal leptin levels, platelets 84,000/µL, IgG 1,894 mg/dL, positive anti-LKM and anti-LC-1. Hepatic histology was suggestive of autoimmune hepatitis, without steatosis. She progressed favorably under metformin and immunosuppressive treatment. CONCLUSION: Early recognition and adequate characterization of liver disease in lipodystrophies is essential for a correct treatment approach. In acquired generalized lipodystrophy, the severe endocrine-metabolic disorder, which leads to steatohepatitis with cirrhotic progression, may benefit from recombinant leptin treatment.

INTRODUÇÃO: As lipodistrofias sao um grupo heterogeneo de doencas raras (formas geneticas e adquiridas) caracterizadas por defice parcial ou generalizado de tecido adiposo, resultando em menor capacidade de armazenamento energetico. Estao associadas a complicacoes endocrino-metabolicas graves com morbilidade e mortalidade significativas. Na patogenese das formas adquiridas poderao estar envolvidos disturbios imunologicos. CASO 1: Adolescente de 13 anos, sexo feminino, com diagnostico de lipodistrofia generalizada adquirida, observada por suspeita de hipertensao portal. Apresentava ausencia generalizada de tecido adiposo, acantose nigricans cervical e axilar, e hepatoesplenomegalia volumosa. Do estudo destacavam-se: AST 116 UI/L, ALT 238 UI/L, GGT 114 UI/L, HOMA-IR 28.2, triglicerideos 491 mg/L e leptina < 0.05 ng/mL. A endoscopia digestiva alta nao evidenciou sinais de hipertensao portal. Histologia hepatica com esteatose macrovesicular (60% dos hepatocitos) e fibrose avancada/cirrose. A sua condicao clinica evoluiu progressivamente para diabetes com necessidade de tratamento com insulina subcutanea e sindrome hepatopulmonar. CASO 2: Adolescente de 15 anos, sexo feminino, com diagnostico de lipodistrofia parcial adquirida, sindrome parkinsonico, tiroidite autoimune, e trombocitopenia autoimune, observada por elevacao das transaminases desde os 8 anos. Apresentava ausencia de tecido adiposo subcutaneo nos membros superiores e inferiores, ataxia e tremor das maos, sem sinais de doenca hepatica. Do estudo destacavam-se: AST 461 UI/L, ALT 921 UI/L, GGT 145 UI/L, HOMA-IR 32,6, triglicerideos 298 mg/dL, leptina normal, plaquetas 84,000/µL, IgG 1,894 mg/dL, anticorpos anti-LKM e anti-LC1 positivos. Histologia hepatica sugestiva de hepatite autoimune, sem esteatose. A doente evoluiu favoravelmente com metformina e tratamento imunossupressor. DISCUSSAO: O reconhecimento precoce e a caracterizacao adequada da doenca hepatica nas lipodistrofias sao fundamentais para uma correta abordagem terapeutica. Na lipodistrofia generalizada adquirida, o disturbio endocrino-metabolico grave responsavel por esteatohepatite com evolucao cirrogenea podera beneficiar do tratamento inovador com leptina recombinante.

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.

BACKGROUND: The prevalence of non-alcoholic fatty liver disease (NAFLD) affecting children and adolescents has increased dramatically in recent years. This increase is most probably related to the obesity pandemic and the high consumption of fructose. However, hepatic steatosis has some rare causes (e.g., some metabolic diseases) of which clinicians should be aware, particularly (but not only) when patients are non-obese or non-overweight. Differential diagnosis is notably important when pathologies have a specific treatment, such as for glycogenosis type IX (GSD-IX). AIMS: To contribute to the knowledge on the differential diagnosis of NAFLD in paediatric age and to the clinical, biochemical, molecular, and histological characterisations of GSD-IX, a rare metabolic disorder. METHODS: We performed a retrospective study of a small series of cases (n = 3) of GSD-IX diagnosed in the past 6 years, who were currently being followed up in the Units of Gastroenterology or Metabolic Diseases of the Paediatric Division of our hospital and whose clinical presentation was NAFLD in paediatric age. RESULTS: Three male patients were diagnosed with NAFLD before 2 years of age, 2 with confirmed diagnosis before the age of 3 years (alanine aminotransferase [ALT], liver ultrasound, and molecular analysis) and 1 whose diagnosis was confirmed at 11 years (ALT, liver ultrasound, liver histology, and molecular analysis). None of the patients were obese or overweight, and the daily fructose consumption was unknown. The outcome was favourable in all 3 patients, with follow-up periods ranging from 2 to 6 years. CONCLUSION: The decision on how far the search for secondary causes of NAFLD should go can be difficult, and GSD-IX must be on the list of possible causes.

O(s) Sistema(s) Primário(s) de Saúde Canadense sob uma perspectiva brasileira: discutindo os Atributos Starfield / The Canadian Primary Health Care Systems from a Brazilian perspective: discussing Starfield's Attributes

Resumo Os pilares Starfield são revistos assim como o sistema de saúde canadense. Avaliação objetiva e subjetiva são aplicadas ao sistema sob as lentes do acesso, longitudinalidade, integralidade e coordenação de cuidados. Discutem-se as vulnerabilidades do sistema e as ações e propostas que estão em curso para tentar melhorar esses aspectos, tanto nacionalmente como na província de Ontário. Destaque para a oportunidade de se criar um sistema gratuito de medicamentos e os diversos desafios para avançar a agenda de reformas.

Abstract This paper reviews the Starfield pillars and the Canadian health system. An objective and subjective evaluation are applied to the system through the lenses of access, longitudinality, integrality, and coordination of care. System vulnerabilities, actions, and proposals that are underway to improve these aspects, both nationally and in the province of Ontario, are discussed. Worth highlighting is the opportunity to establish a national free drug system, and the several challenges to advance the agenda of reforms.

The family health system: analysis of a health survey in Sao Paulo, Brazil.

BACKGROUND: The Family Health Strategy (FHS) has been implemented as a strategy for primary care improvement in Brazil. Working with teams that include one doctor, one nurse, auxiliary nurses and community health workers in predefined areas, the FHS began in 1994 (known then as the Family Health Program) and has since grown considerably. The programme has only recently undergone assessment of outcomes, in contrast to more routine evaluations of infrastructure and process. METHODS: In 2001, a health survey was carried out in two administrative districts (with 190,000 inhabitants) on the outskirts of the city of São Paulo, both partially served by the FHS. Chronic morbidity (hypertension, diabetes and ischaemic heart disease) of individuals aged 15 or older was studied in areas covered and not covered by the programme. Stratified univariate analysis was applied for sex, age, education, income, working status and social insurance of these populations. Multivariate analysis was applied where applicable. RESULTS: There was a distinct pattern in the morbidity profile of these populations, suggesting differentiated self-knowledge on chronic disease status in the areas served by the FHS. CONCLUSION: The FHS can increase population awareness of chronic diseases, possibly through increasing access to primary care.

Acolhimento em uma unidade básica de saúde: perfil dos pacientes, queixas apresentadas e conduta dos profissionais de saúde / A study of patient partnership at a primary health care unit in São Paulo city

Objetivo: Conhecer o perfil dos usuários que procuram o acolhimento em uma Unidade Básica de Saúde. Identificar as queixas apresentadas pelos usuários e a forma de condução dos casos pelos profissionais de saúde. Metodologia: Foram entrevistados todos os usuários que procuraram acolhimento de janeiro a março de 2007. Foram verificados dados sociodemográficos e o motivo de procura ao acolhimento. Os prontuários foram consultados, registrando o profissional responsável pelo atendimento, diagnóstico e conduta. Resultados: 1.061 participantes foram entrevistados, com predomínio de mulheres, pessoas casadas, com ensino fundamental incompleto e idade entre 21 e 60 anos. Alterações respiratórias foram relatadas por 21% dos participantes, seguindo-se queixas de dor (20%). A maioria (60%) foi atendida por médicos e medicamentos foram prescritos para 86% dos usuários. Hipóteses diagnósticas foram registradas em 24% dos prontuários. Conclusão: A dor foi o principal motivo de busca pelo acolhimento, seguindo-se queixas respiratórias. A maioria dos usuários foi submetida a avaliação médica e o tratamento medicamentoso foi a conduta mais frequente.

Study Objective: To discern the profile of walk-in users of a public primary care unit, to identify their complaints and the health professionals? diagnosis and management of each case. All walk-in users from January to March, 2007, were interviewed. Sociodemographic data and the main reason for the visit were recorded. The consulting professional?s category, diagnosis, and procedures, as registered in the files, were also recorded. 1,061 participants were interviewed, with a predominance of women, married persons, aged 21 to 60 years, and with incomplete primary education. Respiratory complaints were the most prevalent, reported by 21% of the participants, followed by pain complaints, reported by 20% of the participants. The majority (60%) were examined by a medical doctor, and medications were prescribed for 86% of the participants. Specific diagnosis was registered in 24% of the cases. Pain was the main reason for seeking assistance, followed by respiratory complaints. Most of the patients were examined by a doctor, and drug prescription was the treatment most commonly used. It is observed that patient participation in a screening procedure will not suffice in improving care, as expected from this device.

Análise do Programa de Qualidade Integral em Saúde - QUALIS - a partir de inquérito domiciliar / Evaluation of Project 'Comprehensive Quality in Health' (QUALIS) applying a health survey

Utilizou-se de um inquérito domiciliar de saúde, realizado em dois distritos administrativos de São Paulo (compreendendo uma população de 190 mil habitantes) em 2001, para se analisar o possível impacto do "Programa de Saúde da Família" (PSF) - QUALIS na morbidade referida e estilo de vida dos maiores de 14 anos. Utilizando-se de análise uni e multivariada, com diversas variáveis sócio-econômicas, mostrou-se que há diferenças na morbidade crônica entre as populações cobertas ou não pelo PSF. Esse fato deve-se, possivelmente, a um maior acesso à Atenção Primária por parte das populações cobertas por essa nova estratégia. Praticamente não houve diferenças em relação a estilo de vida...

A health survey, held in 2001 in two administrative districts of the city of Sao Paulo (inhabited by 190,000 people) was used to measure the impact of the "Family Health Program" - QUALIS in referred morbidity and lifestyle for those 15 and older. Through univariate and multivariate analysis, using several socioeconomic measures, we came to the conclusion that there are differences in chronicle morbidity between the populations attended or not by the program. It is so, possibly, due to a larger access to Primary Health System with this new strategy. There is basically no difference concerning lifestyle...

Adolescentes infratores em Säo Paulo: retrato da exclusäo social? / Juvenile delinquency in Säo Paulo: portrait of an underclass?

Objetivo: Traçar o perfil sociodemográfico e descrever as características do ato infracional no município de Säo Paulo, relacionando o local de residência dos adolescentes infratores com o Mapa da Exclusäo/Inclusäo Social da Cidade de Säo Paulo. Método: A partir do banco de dados do Ministério Público, utilizou-se análise estatística e geoprocessamento para obtençäo dos resultados. Resultados: Em relaçäo à populaçäo do município de Säo Paulo, há um maior número de infratores negros, grande contingente natural de Säo Paulo, imensa maioria masculina, originários de famílias com rendas pouco inferiores às médias do município e com um expressivo abandono escolar. Outrossim, a reincidência é mais comum entre os que näo trabalham, näo estudam e säo provenientes de famílias com rendas mensais inferiores, padräo idêntico ao dos adolescentes que cometem atos contra o patrimônio e que formam o principal grupo internado provisoriamente. Nota-se, também, uma grande concentraçäo das taxas de adolescentes infratores, de acordo com seu local de residência, nos distritos do chamado centro velho de Säo Paulo. Na comparaçäo entre este "ranking" e os índices de exclusäo/inclusäo social da cidade de Säo Paulo, observou-se correlaçäo inversa apenaws quanto à eqüidade. Conclusäo: Do ponto de vista do território, näo parece haver correlaçäo entre local de moradia dos adolescentes infratores e exclusäo social, a despeiro da vulnerabilidade indicada pelo perfil destes jovens. Parece existir exceçäo no tocante à eqüidade, que aponta para uma certa resiliência nas comunidade onde há mais mulheres alfabetizadas como chefes de família