The Relationship between the Etiology of Profound Prelingual Sensorineural Hearing Loss and the Results of Vestibular-Evoked Myogenic Potentials

Abstract Introduction Cervical vestibular-evoked myogenic potentials (cVEMPs) are biphasic, short latency potentials, which represent the inhibition of the contraction of the sternocleidomastoid muscle (SCM) mediated by the saccule, the inferior vestibular nerve, the vestibular nuclei and the medial vestibular spinal tract. Objective To evaluate the response of cVEMPs in individuals with profound prelingual bilateral cochlear hearing loss. Methods A prospective case-control study. A total of 64 volunteers, divided into a study group (31 patients with profound prelingual sensorineural hearing loss) and a control group (33 subjectsmatched for age and gender with psychoacoustic thresholds of ≤ 25 dB HL between 500 and 8,000 Hz) were submitted to the cVEMP exam. The causes of hearing loss were grouped by etiology and the involved period. Results The subjects of the study group aremore likely to present changes in cVEMPs compared to the control group (35.5% versus 6.1% respectively; p = 0.003), with an odds ratio (OR) of 8.52 (p = 0.009). Itmeans that they had 8.52-fold higher propensity of presenting altered cVEMP results. There were no statistically significant differences between the latencies, the interamplitude and the asymmetry index. Regarding the etiology, there was a statistically significant difference when the cause was infectious, with an OR of 15.50 (p = 0.005), and when the impairment occurred in the prenatal period, with an OR of 9.86 (p = 0.009). Conclusion The present study showed abnormalities in the sacculocolic pathway in a considerable portion of individuals with profound prelingual sensorineural hearing loss due to infectious and congenital causes, as revealed by the cVEMP results. (AU)

Fibrose hepática congênita e venopatia portal obliterativa sem hipertensão portal - revisão da literatura com base em um caso assintomático / Congenital hepatic fibrosis and obliterative portal venopathy without portal hypertension - a review of literature based on an asymptomatic case

ABSTRACT The disease and the case reported here are relevant especially because of their varied clinical presentation, possibility of being associated with other disorders affecting several organs and possible differential diagnoses. Congenital Hepatic Fibrosis is an autosomal recessive disease due to mutation in the PKHD1 gene, which encodes the fibrocystin/polyductine protein. It is a cholangiopathy, characterized by varying degrees of periportal fibrosis and irregular proliferation of bile ducts. Affected patients are typically diagnosed in childhood, but in some cases the disease may remain asymptomatic for many years. The exact prevalence and incidence of the disease are not known, but it is consider a rare disease, with a few hundred cases described worldwide. It can affect all ethnic groups and occur associated with various hereditary and non-hereditary disorders. The clinical presentation is quite variable, with melena and hematemesis being initial symptoms in 30%-70% of the cases. More rarely, they may present episodes of cholangitis. The disease has been classified into four types: portal hypertension, cholestasis / cholangitis, mixed and latent. Diagnosis begins with imaging tests, but the definition is made by the histopathological sample. So far, there is no specific therapy that can stop or reverse the pathological process. Currently, the therapeutic strategy is to treat the complications of the disease.

RESUMO A patologia e o caso aqui reportados são relevantes especialmente devido sua variada apresentação clínica, possibilidade de estar associada com outras desordens acometendo diversos órgãos e pelos possíveis diagnósticos diferenciais. A fibrose hepática congênita é uma doença autossômica recessiva, devido mutação no gene PKHD1, que codifica a proteína fibrocistina/poliductina. É uma colangiopatia, caracterizada por variados graus de fibrose periportal e proliferação irregular de ductos biliares. Os pacientes acometidos são tipicamente diagnosticados na infância, mas em alguns casos a doença pode permanecer assintomática por muitos anos. Exatas prevalência e incidência da doença não são conhecidas, mas sabe-se que é uma doença bastante rara, com algumas centenas de casos descritos no mundo. Pode afetar todos grupos étnicos e ocorrer associada com diversas desordens hereditárias e não-hereditárias. A apresentação clínica é bastante variável, com melena e hematêmese sendo sintomas iniciais em 30%-70% dos casos. Mais raramente, podem apresentar episódios de colangite. A doença tem sido classificada em quatro tipos: hipertensão portal, colestática/colangite, mista e latente. O diagnóstico inicia com exames de imagem, mas a definição é feita pela amostra histopatológica. Até o momento, não há terapia específica que possa parar ou reverter o processo patológico e a estratégia terapêutica atual é tratar as complicações da doença.

Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice / Síndromes Genéticas Associadas a Defeitos Cardíacos Congênitos e Alterações Oftalmológicas - Sistematização para o Diagnóstico na Pratica Clínica

Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

Resumo Fundamento: O número de síndromes genéticas descritas que apresentam alguma forma de cardiopatia e manifestações oculares associadas é grande. Contudo, estas síndromes ainda não foram reunidas e sintetizadas para melhor consulta e comparação. Objetivo: O objetivo deste trabalho é sistematizar a literatura, avaliando evidências disponíveis sobre síndromes que cursam com cardiopatia congênita associada a alterações oculares, salientando os tipos de alterações anatômicas e funcionais descritas. Métodos: Dois pesquisadores independentes fizeram uma busca sistemática utilizando as bases eletrônicas Medline (PubMed, Embase, Cochrane, Lilacs), de trabalhos publicados até o mês de janeiro de 2016. Os critérios de elegibilidade utilizados pelos autores incluíram somente artigos publicados sob a forma de relatos de caso ou revisão, que abordassem a associação de alterações oftalmológicas e cardiológicas em pacientes menores de 18 anos e que apresentassem alguma síndrome genética. Resultados: As síndromes genéticas mais frequentes foram: Síndrome de Down, Síndrome Velo-cardio-facial / DiGeorge, Síndrome de Charge e Síndrome de Noonan. Entre as malformações cardíacas, a comunicação interatrial (77,4%), a comunicação interventricular (51.6%), a persistência do canal arterial (35,4%), estenose da artéria pulmonar (25,8%) e a tetralogia de Fallot (22,5%) foram as mais associadas com achados oculares. Conclusão: Devido à sua variedade clínica, as malformações cardíacas congênitas revelam defeitos que evoluem de maneira assintomática até aqueles que provocam grande morbimortalidade. Dessa forma, encontrar características extra-cardíacas que, de alguma maneira, possam auxiliar no diagnóstico da doença ou revelar a gravidade dessa enfermidade tornam-se de grande relevância.

História natural da hipercolesterolemia familiar / Natural history of familial hypercholesterolemia

A hipercolesterolemia familiar (HF), uma das mais comuns doenças genéticas, é caracterizada por hipercolesterolemia, geralmente expressiva, que se associa ao desenvolvimento prematuro da aterosclerose e suas complicações. Embora sua base genética esteja associada a variantes dos genes que codificam o receptor da lipoproteína de baixa densidade (LDL), da apolipoproteína B (ApoB), da pró-proteína convertase subtilisina/kexina tipo 9 (PCSK9) ou da proteína adaptadora do receptor da LDL, a doença é mais frequentemente relacionada as mutações do receptor da LDL. Ela pode se expressar por níveis muito elevados de colesterol das LDL em sua forma homozigótica (rara) ou com muito mais frequência e com menor gravidade pela forma heterozigótica. Esta última também pode apresentar níveis muito elevados de LDL-C, na dependência da variante genética envolvida, bem como de contribuição de outros genes que influenciem, adicionalmente, o metabolismo lipídico. O diagnóstico é baseado nos níveis de LDL-C, na presença de sinais físicos da hipercolesterolemia, na precocidade da doença coronariana no paciente ou em seus familiares e no diagnóstico genético. A doença geralmente é subdiagnosticada e subtratada, o que contribui para formas mais graves de apresentação clínica da doença aterosclerótica. Sua história natural está associada principalmente à doença coronariana prematura, em geral após a quarta década de vida, mas incidindo de forma ainda muito mais prematura na condição homozigótica, com desfechos cardiovasculares ou revascularizações nas duas primeiras décadas de vida

Familial hypercholesterolemia (FH), one of commonest genetic disorders, is characterized by a usually significant degree of hypercholesterolemia, associated with the premature development of atherosclerosis and related complications. Although the genetic basis of FH is mainly attributable to polymorphisms of the genes that encode the receptor of low-density lipoprotein (LDL), apolipoprotein B (ApoB), proprotein convertase subtilisin/kexin type 9 (PCSK9), or the LDL-receptor adaptor protein, the disorder is more commonly related to LDL receptor mutations. The disorder can be expressed as very high LDL-cholesterol levels in its homozygous (rare) form, or much more frequently but with less severity, in the heterozygous form. It can also present very high LDL-cholesterol levels, depending on the genetic variant involved, and the contribution of other genes that also influence the lipid metabolism. The diagnosis is based on LDL-cholesterol levels, the presence of physical signs of hypercholesterolemia, premature coronary heart disease in the patient or their relatives, or genetic diagnosis. The disease is usually underdiagnosed and undertreated, which contributes to more severe forms, of clinical presentation of atherosclerotic disease. Its natural history is associated mainly with premature coronary disease, usually after the fourth decade of life, or even earlier in homozygous subjects, with cardiovascular events or the need of revascularization in the first two decades of life

Comunicação em adultos surdocegos com síndrome de Usher: estudo observacional retrospectivo / Communication in deafblind adults with Usher syndrome: retrospective observational study

OBJETIVO: Conhecer as características e desafios enfrentados por surdocegos para comunicar-se e locomover-se; avaliar as repercussões da surdocegueira na vida dos sujeitos, especialmente em relação à comunicação e locomoção. MÉTODOS: Relato de série de casos realizado a partir de entrevistas semiestruturadas com questões relativas à funcionalidade da comunicação, com indivíduos com diagnóstico clínico de síndrome de Usher que frequentaram um ambulatório especializado em um serviço universitário, durante o ano de 2007. A amostra foi composta por 11 sujeitos surdocegos portadores da síndrome de Usher, com idades entre 20 e 57 anos (média de 43 anos e DP=12,27), dos quais 7 (63,6%) eram do gênero feminino. As respostas foram analisadas qualiquantitativamente pela técnica do Discurso do Sujeito Coletivo (DSC). RESULTADOS: Todos os entrevistados referiram que os sintomas visuais e auditivos tiveram início na infância. Dos 11 entrevistados, 6 sentiram que a doença afetou negativamente suas atividades cotidianas, 6 sentiram dificuldade no trabalho, 2 no lazer. Quatro relataram que houve mudança no relacionamento familiar e 5 relataram que não houve mudança na interação com a família e com os amigos. Na análise do discurso, quase 30% dos entrevistados relataram utilizar-se de formas alternativas de comunicação; 40% afirmaram deslocar-se sozinho se o trajeto for previamente conhecido. CONCLUSÃO: Os indivíduos com síndrome de Usher enfrentam situações desafiadoras nas atividades cotidianas, nos relacionamentos pessoais, no trabalho e no lazer. Formas alternativas de comunicação são muito utilizadas quando a comunicação oral não é possível. A maioria dos entrevistados referiu independência de locomoção, ou procurava alcançá-la.

PURPOSE: To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness. METHODS: Report of a series of cases conducted from semi-structured interviews with questions relating to the functionality of communication, with Usher syndrome patients attended in a specialized clinic in a university service, in the year 2007. The sample consisted of 11 deafblind subjects, with Usher syndrome, aged between 20 and 57 years (mean age 43 years and SD=12.27), of which 7 (63.6%) were female. The responses were analyzed by qualitative-quantitative technique of the Discurso do Sujeito Coletivo (DSC). RESULTS: All participants reported that visual and auditory symptoms began in childhood. Of the 11 interviewed, 6 reported that the disease has negatively affected their daily activities, 6 experienced difficulty at work, and 2 at leisure. Four reported that there was a change in family relationships, and 5 reported no change in the interaction with family and friends. In discourse analysis, almost 30% of respondents reported to use alternative forms of communication, 40% said move alone if the way is known before. Only 1 of 11 participants said they did not ask for help when needed. CONCLUSION: Individuals diagnosed with Usher syndrome face challenging situations in daily activities, personal relationships, at work and at play. Alternative forms of communication are often used when verbal communication is not possible. The majority of respondents have independence of locomotion, or seeking ways to achieve it.

[Renal transplantation in children with cystinosis]

Cystinosis is an inherited metabolic disease in which transfer of cystine out of lysosome is impaired. This phenomenon leads to accumulation of cystine in different organs and causes organ dysfunction. Growth retardation is seen in these patients and later they go on to develop renal failure needing dialysis or renal transplantation. The aim of this study was to evaluate the outcome and complications of renal transplantation in patients with cystinosis. In this case series study in years 1996-2006 all patients with renal failure due to cystinosis who received renal transplantation, were followed for 43 +/- 1/1 months, Before operation, all patients were examined to determine if they are appropriate candidate for renal transplantation and after operation DPTA scan was performed to evaluate graft function and in later follow up necessary lab tests were done. All patients received triple immunosuppressive therapy including cyclosporine, prednisolone and Mycophenolate Mofetil. In the presence of rejection symptoms such as fever and a rise in creatinine, graft rejection was confirmed by DPTA scan and sonography of transplanted kidney. Patient survival was 100% and 4 years graft survival was 86.7%. Mean creatinine level before operation was 5.44 +/- 2.58 and post operation was 0.86 +/- 1.03 and at the last follow-up was 1.51 +/- 1.45 mg/dl, mean GFR at the last follow-up was 54.1 +/- 31.2 ml/min/1.73m2. Six [40%] patients were on dialysis before operation, 5 [33%] had acute rejection and 5 [33%] suffered from UTI after the operation. Growth retardation was seen in all of patients. Thirteen patients [86%] were affected by CMV infection and 6 [40%] by CMV disease; that were treated successfully by Ganciclovir for 2 weeks. One patient was affected by vessel thrombosis in post operation period and one patient had graft loss due to kink of vessel after operation. Renal transplantation in patients with cystinosis has favorable outcome. It is the treatment of choice for patients with cystinosis and End Stage Renal Failure [ESRF]

Nem toda criança diabética é tipo 1: [revisão] / Not every diabetic child has type 1 diabetes mellitus: [review]

OBJETIVO: Apesar de o diabetes melito tipo 1 de origem autoimune ser o mais prevalente na infância e adolescência, outras formas de diabetes também podem acometer essa população, implicando em prognóstico e tratamentos diferentes. FONTES DOS DADOS: Foram utilizadas informações através de revisão bibliográfica realizada por busca direta de artigos científicos nas bases de dados MEDLINE e LILACS, além de publicações clássicas referentes ao tema, sendo escolhidas as mais representativas. SÍNTESE DOS DADOS: Este artigo discute os mecanismos fisiopatológicos, quadro clínico e tratamento das diversas formas de diabetes que acometem a faixa etária pediátrica, como diabetes melito tipo 1, diabetes melito tipo 2, diabetes do tipo maturity-onset diabetes of youth, diabetes neonatal, diabetes mitocondrial, diabetes da lipodistrofia generalizada, diabetes secundário a outras pancreatopatias, diabetes secundário a outras endocrinopatias, diabetes associado a infecções e drogas citotóxicas e diabetes relacionado a algumas síndromes genéticas. CONCLUSÃO: O reconhecimento do mecanismo fisiopatológico primário da forma de diabetes apresentada pode orientar seu tratamento específico, otimizando seu controle metabólico e minimizando suas complicações a longo prazo.

OBJECTIVE:Although it is type 1 diabetes mellitus of autoimmune origin that is most prevalent in childhood and adolescence, other forms of diabetes can also affect this population, resulting in different prognosis and treatment. SOURCES: Information was obtained by means of a bibliographic review, carried out by running searches for scientific articles in the MEDLINE and LILACS databases, in addition to classic publications on the subject, with the most representative being chosen. SUMMARY OF THE FINDINGS: This article discusses the pathophysiological mechanisms, clinical presentation and treatment of the various forms of diabetes that affect the pediatric age group, such as type 1 diabetes mellitus, type 2 diabetes mellitus, maturity-onset diabetes of youth, neonatal diabetes, mitochondrial diabetes, diabetes of generalized lipodystrophy, diabetes secondary to other pancreatic diseases, diabetes secondary to other endocrine diseases, diabetes associated with infections and cytotoxic drugs and diabetes related to certain genetic syndromes. CONCLUSIONS: Recognition of the primary pathophysiologic mechanism of the form of diabetes presented can guide specific treatment, optimizing metabolic control and minimizing complications over the long term.

Aetiological assessment of congenital cataract

Most of the theories attribute congenital cataract to hereditary, idiopathic metabolic and systemic diseases. In a trial to clarify the situation, 40 children presenting with cataract were studied. This work was designed to explain various etiological factors and to identify the common risk factors for its occurrence. Complete medical and ophthalmic evaluation in addition to laboratory investigation [rubella and toxoplasma IgG and IgM titer, aminogram, reducing substances in urine] were done. 80% of the cases had bilateral congenital cataract, while 20% had unilateral cataract. History of exposure to maternal infection was present in 30% of cases. 50% of cases had associated neurological abnormalities in the form of spastic diplegia, spastic paraplegia, cranial nerve affection and mental retardation. The study showed that the two commonest causative factors were familial cataract and congenital infection, especially rubella eye disease in the cases. Other metabolic diseases and perinatal risk factors, especially prematurity and anoxia, were of less importance. Most of these congenital cataracts were potentially remediable. Genetic cause through genetic counseling, congenital rubella infection through investigation of susceptible mothers and better care of preterm infants as well as good communication between ophthalmologist and the pediatrician is the appropriate way to reduce the number of cases

Clinicoepidemiological features of adult leukemias in Pakistan

A total of 113 patients of leukemia, over 15 years of age, were seen in three different institutions from July, 1992 to June, 1994. There was an almost equal distribution of acute myeloid leukemia [AML] and acute lymphoblastic leukemia [ALL] [44 vs 43 cases respectively]. Chronic lymphocytic leukemia [CLL] was the least common, accounting for 5% of all cases. Mean age in CLL was 59 years. Chronic myeloid leukemia [CML] was three times commoner than CLL with a younger age distribution [median age was 34 years]. We conclude that the clinicoepidemiological features of adult leukemias differ considerably from that seen in the developed world. However, recruitment of patients needs to continue in order to define these features based on a larger patient population

Pregnancy and sickle cell disease

Sickle-cell anemia is a hereditary affection due to the presence of abnormal hemoglobin [S.H.B] in red cells. We have been proposed in an opportunity of a major sickle-cell and pregnancy. Observation to sum up this association and its reciprocal repercussion. The foctomaternal repercussion is important in the homozyot form. On the other hand it is partielly nul in its heterozygote form. Authors insist on the necessity of a rigorrous supervision of pregnancy, labour and dehivance as well as theraputics