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We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre study. A mean age at onset of symptoms and diagnosis of 9.9⯱â¯9.7 years and 15.8⯱â¯12.1 years respectively was identified. All patients had lower extremity limb-girdle muscle weakness. Seven required ventilatory support and seven used mobility assists. Of the four who used both assists, two received ventilatory support prior to wheelchair use. Cardiac involvement was seen in eight patients with various combinations of left ventricular hypertrophy, tricuspid regurgitation, cardiomyopathy, dilated ventricles with biventricular dysfunction and aortic regurgitation. Amongst 20 biochemically diagnosed patients (low residual GAA enzyme activity) GAA genotypes of 19 patients identified homozygous variants in eight and compound heterozygous in 11: 27 missense, 3 nonsense, 2 initiator codon, 3 splice site and one deletion. Nine variants in 7 patients were novel. The leaky Caucasian, splice site LOPD variant, c.-32-13T>G mutation was absent. This first study from India provides an insight into a more severe LOPD phenotype with earlier disease onset at 9.9 years compared to 33.3 years in Caucasian patients, and cardiac involvement more than previously reported. The need for improvement in awareness and diagnosis of LOPD in India is highlighted.
Assuntos
Doença de Depósito de Glicogênio Tipo II/diagnóstico , Adolescente , Adulto , Idade de Início , Criança , Estudos de Coortes , Estudos Transversais , Progressão da Doença , Feminino , Genótipo , Homozigoto , Humanos , Índia , Masculino , Mutação , Fenótipo , Sítios de Splice de RNA , Estudos Retrospectivos , Adulto JovemRESUMO
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian patients with FD. In this multicentric study involving 10 tertiary referral centers in India, we analyzed the clinical course and genotype of 54 patients from 37 families. Family screening identified 19 new patients (35%) from 12 index cases. Then, 33 GLA gene variants were identified in 49/54 (90.7%) which included 11 novel and 22 known pathogenic variants. Of the 54 patients in our cohort, 40 patients had "classical" and 10 patients had a "nonclassical" presentation. The symptoms and signs included kidney dysfunction in 38/54 (70.3%), neuropathic pain in 34/54 (62.9%), left ventricular hypertrophy in 22/49 (44.8%) and stroke in 5/54 (9.2%). Female heterozygotes were 10/54 (18.5%) of whom 2 were index cases. There was a significant delay in reaching the diagnosis of 11.7 years. Enzyme replacement therapy was initiated in 28/54 (51.8%) patients with significant improvement of neuropathic pain and gastrointestinal symptoms. This study highlights the clinical presentation and mutational spectrum of FD in India and suggests that family screening and screening of high-risk groups (hypertrophic cardiomyopathy, idiopathic chronic renal failure and cryptogenic stroke) could be the most cost-effective strategies for early identification of FD.
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OBJECTIVE: It is unknown why most amoebic liver abscess (ALA) cases occur in alcohol drinkers. In experimental studies, the presence of 'iron' potentiates the in-vitro growth of Entamoeba histolytica (E. histolytica), and is also known to increase its in-vivo invasiveness in animal infections. Chronic alcoholism increases the hepatic iron deposition. We hypothesized that ALA occurs more commonly in livers with a high iron load as in alcoholics. To test this hypothesis we compared the levels of iron between ALA and non-ALA cases belonging to alcoholic and non-alcoholic groups. METHODS: Out of a total of 48 ALA cases, 34 (70%) were alcoholics and 14 (30%) were non-alcoholics. After applying exclusion criteria, serum iron and liver iron stores were quantified in 20 ALA cases (10 alcoholic and 10 non-alcoholics) and compared with 20 non-ALA cases (10 alcoholics and 10 non-alcoholics). RESULTS: All patients of ALA had serum iron values within the normal range but higher than non-ALA cases. In the liver tissue, most patients with ALA had higher (grade II or III) iron deposition, than non-ALA cases (mostly grade I). Thus, patients with ALA, with or without alcohol indulgence, had higher iron levels when compared to the non-ALA cases. CONCLUSION: It appears that the higher incidence of ALA in alcoholic livers is possibly due to their higher iron content.
Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Sobrecarga de Ferro/fisiopatologia , Abscesso Hepático Amebiano/fisiopatologia , Hepatopatias/fisiopatologia , Adulto , Consumo de Bebidas Alcoólicas/metabolismo , Estudos de Casos e Controles , Feminino , Humanos , Sobrecarga de Ferro/etiologia , Sobrecarga de Ferro/metabolismo , Fígado/metabolismo , Fígado/patologia , Abscesso Hepático Amebiano/etiologia , Hepatopatias/etiologia , Hepatopatias/metabolismo , Masculino , Pessoa de Meia-Idade , RiscoRESUMO
Plasmodium falciparum and Plasmodium vivax malaria are endemic infections in India and are commonly associated with mild hematological abnormalities. Severe thrombocytopenia is common in isolated falciparum and mixed falciparum/vivax malaria, but is very rare in isolated P.vivax infection. We hereby report a case of severe thrombocytopenia (platelet count of 8x10(9)/L) in a case of vivax malaria. This is only the second case ever reported in the literature of such profound thrombocytopenia in a case of isolated P.vivax malaria.
Assuntos
Malária Vivax/complicações , Trombocitopenia/parasitologia , Adulto , Animais , Antimaláricos/uso terapêutico , Humanos , Malária Vivax/diagnóstico , Malária Vivax/tratamento farmacológico , Masculino , Transfusão de Plaquetas , Quinina/uso terapêutico , Índice de Gravidade de Doença , Trombocitopenia/diagnóstico , Trombocitopenia/terapiaRESUMO
Heparin and insulin stimulate lipoprotein lipase and are known to decrease serum triglyceride levels. However, their efficacy in hypertriglyceridemia-induced acute pancreatitis is not well documented. We report a 51-year-old man in whom treatment with heparin and insulin was accompanied by reduction in serum triglyceride levels and resolution of pancreatitis.
Assuntos
Anticoagulantes/uso terapêutico , Heparina/uso terapêutico , Hipertrigliceridemia/complicações , Hipertrigliceridemia/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Pancreatite/tratamento farmacológico , Pancreatite/etiologia , Doença Aguda , Humanos , Hipertrigliceridemia/metabolismo , Lipase Lipoproteica/efeitos dos fármacos , Lipase Lipoproteica/metabolismo , Masculino , Pessoa de Meia-Idade , Pancreatite/metabolismo , Triglicerídeos/metabolismoRESUMO
Hepatitis E virus is one of the leading causes of acute viral hepatitis in India but usually manifests as a mild self-limiting illness. Viral hepatitis in the presence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may be associated with complications such as severe anemia, hemolysis, renal failure, hepatic encephalopathy and even death. The incidence of G6PD deficiency in the general population of northern India is reported to be between 2.2% and 14%. Despite both hepatitis E infection and G6PD deficiency being common, their impact on patient illness has only recently been reported. The present study reports a case of severe hemolysis in a patient with G6PD deficiency and hepatitis E infection.
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BACKGROUND: Burning pain in the feet has been known to occur as a distinct clinical symptom for almost two centuries. Despite being a common and fascinating clinical entity, this syndrome has received scant attention in the medical literature and has been described only in anecdotal reports. OBJECTIVE: This article describes and discusses the various aspects of this intriguing syndrome. DISCUSSION: Burning feet syndrome (BFS) is a common disorder especially among the elderly and is frequently encountered in general practice. There is no specific aetiology and it can occur as an isolated symptom or as part of a symptom complex in a variety of clinical settings. In contrast to the presence of distressing subjective symptoms, the physical examination is marked by a paucity of objective signs. The pathophysiology of BFS is not very clear and treatment varies depending on the aetiology.
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Doenças do Pé/diagnóstico , Doenças do Pé/terapia , Manejo da Dor , Dor/diagnóstico , Analgésicos/uso terapêutico , Doenças do Pé/etiologia , Humanos , Dor/etiologia , Síndrome , Síndrome do Túnel do Tarso/complicações , Síndrome do Túnel do Tarso/terapia , Complexo Vitamínico B/uso terapêutico , Deficiência de Vitaminas do Complexo B/complicações , Deficiência de Vitaminas do Complexo B/tratamento farmacológicoRESUMO
Asthma is an inflammatory disease of the airways characterized by increased airway reactivity with airflow obstruction. It is exacerbated by multiple triggers, and one common, often overlooked trigger is gastroesophageal reflux (GER). The prevalence of GER in asthmatics is estimated at between 34% and 80%. Up to 24% of asthmatics may have silent GER without the classic reflux symptoms (heartburn, acid regurgitation, and dysphagia). Since most patients are initially seen at the primary care level, it is essential for the primary physicians to recognize the underlying cause of the disease. This review briefly discusses the pathogenesis and clinical features of gastric (reflux-triggered) asthma and provides clues for its diagnosis in primary care practice. The current diagnostic approach to such patients and its management relevant to general practitioners is also discussed.
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Asma/diagnóstico , Asma/etiologia , Refluxo Gastroesofágico/complicações , Estômago/fisiopatologia , Asma/complicações , Asma/epidemiologia , Refluxo Gastroesofágico/epidemiologia , Refluxo Gastroesofágico/etiologia , HumanosRESUMO
Patients are often ill-equipped to know which speciality to choose for their health problem. Especially in the presence of non-specific symptoms, choosing the right specialist might not be so obvious. In such cases, misdirected self-referrals by patients to self-chosen specialists can sometimes lead to misdiagnosis resulting in unwarranted delays in getting the right treatment. The general physicians, on the other hand, are in a unique position to oversee the big picture of patients' health, and are therefore better equipped to identify and sort out their individual health problems. Hence instead of a specialist if the first place of contact for patients is a general physician, they are likely to be guided along the right path of treatment for their various health problems. Such a system will minimize errors on the part of the patients by making certain that they are referred to the appropriate specialists.
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Comportamento de Escolha , Atenção à Saúde/organização & administração , Medicina de Família e Comunidade/normas , Política de Saúde , Acessibilidade aos Serviços de Saúde/normas , Aceitação pelo Paciente de Cuidados de Saúde , Encaminhamento e Consulta/normas , Adulto , Idoso , Humanos , Índia , Masculino , Medicina/normas , Pessoa de Meia-Idade , Participação do Paciente , Autonomia Pessoal , Qualidade da Assistência à Saúde , Encaminhamento e Consulta/estatística & dados numéricos , EspecializaçãoRESUMO
Palmar erythema is a very unusual manifestation of sarcoidosis. We report on a patient whose presenting features of sarcoidosis were palmar erythema and a hoarse voice. The diagnosis was confirmed by palmar skin biopsy and the patient responded well to treatment with prednisolone.
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Eritema/etiologia , Dermatoses da Mão/etiologia , Rouquidão/etiologia , Sarcoidose/complicações , Sarcoidose/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Prednisolona/uso terapêutico , Radiografia Torácica , Sarcoidose/tratamento farmacológico , Pele/patologia , Resultado do TratamentoAssuntos
Tuberculoma/diagnóstico , Tuberculose Cardiovascular/diagnóstico , Adulto , Antituberculosos/uso terapêutico , Humanos , Masculino , Mycobacterium tuberculosis , Prognóstico , Tuberculoma/complicações , Tuberculoma/tratamento farmacológico , Tuberculose Cardiovascular/complicações , Tuberculose Cardiovascular/tratamento farmacológico , Tuberculose Meníngea/complicações , Tuberculose Meníngea/diagnóstico , Tuberculose Meníngea/tratamento farmacológicoAssuntos
Amiloidose/diagnóstico , Cardiopatias/diagnóstico , Idoso , Amiloidose/tratamento farmacológico , Amiloidose/fisiopatologia , Evolução Fatal , Glucocorticoides/uso terapêutico , Cardiopatias/tratamento farmacológico , Cardiopatias/fisiopatologia , Humanos , Masculino , Melfalan/uso terapêutico , Prednisolona/uso terapêuticoRESUMO
Plasmodium falciparum and Plasmodium vivax malaria are endemic infections in India and are commonly associated with mild hematological abnormalities. Severe thrombocytopenia is common in isolated falciparum and mixed falciparum/vivax malaria, but is very rare in isolated P.vivax infection. We hereby report a case of severe thrombocytopenia (platelet count of 8x10(9)/L) in a case of vivax malaria. This is only the second case ever reported in the literature of such profound thrombocytopenia in a case of isolated P.vivax malaria