Cryptogenic hepatic insult, failing heart and advancing age: a case report

Introduction: we have tested the hypothesis that the co-occurrence of common impairments (motor and cognitive impairments, vision and hearing loss, depressive symptoms) of later life have exacerbating effects on disability [activities and instrumental activities of daily living, social and role function, (in)activity]. Method: data were drawn from a community-based sample of 624 people aged 57 and older. Results: motor impairments and depressive symptoms were associated with all disability measures, even when the effects of other impairments, age and gender were controlled. This indicates independent, predominant effects of motor impairments and depressive symptoms. Although several significant first-order interaction effects (indicating exacerbation) of impairments on disability were found, they were not very strong, but vision and hearing losses exacerbate the impact of the other impairments on disability. Conclusions: impairments, particularly motor impairments and depressive symptoms, largely act 'solo', by main effects on disability. Only a few combinations including vision or hearing loss further exacerbate the effects of other impairments on disability

Fatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in the perforin gene is present in 20%–50% of all cases of FHL. Secondary hemophagocytic lymphohistiocytosis (HLH) in association with hematological malignancies is known; however, whether mutations in HLH-associated genes can be associated with FHL and hematolymphoid neoplasms is not well documented. Also, Epstein–Barr-virus- (EBV) positive systemic T-cell lymphoproliferative disease (SE-LPD) in the setting of FHL is not clearly understood. Here, we present the case of a young boy who presented with typical features of childhood FHL harboring the perforin gene (PRF1) mutation, and had SE-LPD diagnosed on autopsy, along with evidence of recent EBV infection. The patient expired due to progressive disease. Five siblings died in the second or third decade of life with undiagnosed disease. Genetic counseling was provided to the two surviving siblings and parents, but they could not afford genetic testing. One surviving sibling has intermittent fever and is on close follow-up for possible bone marrow transplantation

HIV & immune reconstitution inflammatory syndrome (IRIS)

Antiretroviral therapy (ART) initiation in HIV-infected patients leads to recovery of CD4+T cell numbers and restoration of protective immune responses against a wide variety of pathogens, resulting in reduction in the frequency of opportunistic infections and prolonged survival. However, in a subset of patients, dysregulated immune response after initiation of ART leads to the phenomenon of immune reconstitution inflammatory syndrome (IRIS). The hallmark of the syndrome is paradoxical worsening of an existing infection or disease process or appearance of a new infection/disease process soon after initiation of therapy. The overall incidence of IRIS is unknown, but is dependent on the population studied and the burden of underlying opportunistic infections. The immunopathogenesis of the syndrome is unclear and appears to be result of unbalanced reconstitution of effector and regulatory T-cells, leading to exuberant inflammatory response in patients receiving ART. Biomarkers, including interferon-γ (INF-γ), tumour necrosis factor-α (TNF-α), C-reactive protein (CRP) and inter leukin (IL)-2, 6 and 7, are subject of intense investigation at present. The commonest forms of IRIS are associated with mycobacterial infections, fungi and herpes viruses. Majority of patients with IRIS have a self-limiting disease course. ART is usually continued and treatment for the associated condition optimized. The overall mortality associated with IRIS is low; however, patients with central nervous system involvement with raised intracranial pressures in cryptococcal and tubercular meningitis, and respiratory failure due to acute respiratory distress syndrome (ARDS) have poor prognosis and require aggressive management including corticosteroids. Paradigm shifts in management of HIV with earlier initiation of ART is expected to decrease the burden of IRIS in developed countries; however, with enhanced rollout of ART in recent years and the enormous burden of opportunistic infections in developing countries like India, IRIS is likely to remain an area of major concern

Malignancies in human immunodeficiency virus infected patients in India: Initial experience in the HAART era

Background & objectives: Limited data are available on malignancies in human immunodeficiency virus (HIV)-infected patients from India. We undertook this study to assess the frequency and spectrum of malignancies in HIV-infected adult patients during the first eight years of highly active antiretroviral therapy (HAART) rollout under the National ART Programme at a tertiary care centre in New Delhi, India. Methods: Retrospective analysis of records of patients registered at the ART clinic between May 2005 and December 2013 was done. Results: The study included 2598 HIV-infected adult patients with 8315 person-years of follow up. Malignancies were diagnosed in 26 patients with a rate of 3.1 (IQR 2.1-4.5) cases per 1000 person-years. The median age for those diagnosed with malignancy was 45 (IQR 36-54) yr, which was significantly (P<0.01) higher compared with those not developing malignancies 35 (IQR 30-40) yr. The median baseline CD4+ T-cell count in patients with malignancy was 135 (IQR 68-269) cells/µl compared to 164 (IQR 86-243) cells/µl in those without malignancies. AIDS-defining cancers (ADCs) were seen in 19 (73%) patients, while non-AIDS-defining cancers (NADCs) were observed in seven (27%) patients. Malignancies diagnosed included non-Hodgkin′s lymphoma (16), carcinoma cervix (3), Hodgkin′s lymphoma (2), carcinoma lung (2), hepatocellular carcinoma (1), and urinary bladder carcinoma (1). One patient had primary central nervous system lymphoma. There was no case of Kaposi′s sarcoma. Interpretation & conclusions: Malignancies in HIV-infected adult patients were infrequent in patients attending the clinic. Majority of the patients presented with advanced immunosuppression and the ADCs, NHL in particular, were the commonest malignancies

Look before you leap: A case series of conidiobolomycosis from the Indian subcontinent

Conidiobolomycosis is an extremely rare subcutaneous rhinofacial indolent infection caused by Conidiobolus coronatus and Conidiobolus incongruus. It is reported mainly from the tropical and subtropical parts of the world, mostly in form of isolated case reports or small case series. Two immunocompetent male patients presented to our center with indolent nasal swelling and features of nasal obstruction. They were treated outside with antibiotics and/or steroids and were referred to us with nonresolving symptoms. Both of them were diagnosed based on the characteristic histopathological findings and were successfully treated with saturated solution of potassium iodide. Conidiobolomycosis is an important differential in patients presenting with centrofacial swelling. Early suspicion and timely referral by the primary care physicians will help in early diagnosis and treatment of this disease

Clinical profile & predictors of poor outcome of adult HIV-tuberculosis patients in a tertiary care centre in north India

Background & objectives: There is a paucity of data from India on response to treatment of tuberculosis (TB) in patients with human immunodeficiency virus (HIV)-TB co-infection. This study was done to assess the frequency and pattern of TB, outcome of anti-tuberculosis treatment, and the factors related to poor outcome of TB treatment in adult patients with HIV infection. Methods: Retrospective review of case records of HIV-TB co-infected patients attending the antiretroviral therapy (ART) clinic in a tertiary care centre in north India was done. Results: Of the 1754 patients included in the study, 583 (33.2%) were diagnosed with active TB and 466 (79.9%) of them had CD4 count less than 200/΅l at diagnosis. Extrapulmonary TB was diagnosed in 372 (63.8%) patients [76 (20.4%) had disseminated TB], and pulmonary TB in 211 (36.2%) patients. "Favourable outcome" (cure and completed treatment) was observed in 332 (77%) patients. Unfavourable outcome included default (8.1%), treatment failure (1.6%), and death (13.2%). At 1-year post-treatment follow up, 12 (3.6%) patients had disease relapse. CD4 count of less than 200/ ΅l at diagnosis [OR-2.32, CI (1.06-5.09)], and retreatment cases [OR-2.91, CI (1.22-6.89)] were independent predictors of unfavourable outcome. Interpretation & conclusions: There is an urgent need to strengthen the information, education, communication activities and expand the ART services to meet the requirement of early testing and treatment initiation in patients co-infected with HIV-TB. The findings highlight the need for performing drug susceptibility testing (DST) for patients starting retreatment regimen to improve treatment outcome

Images in clinical tropical medicine: disseminated cysticercosis

A 17-year-old boy from a northern Indian village presented with recurrent episodes of secondarily generalized tonic-clonic seizures since 12 years of age. He had been diagnosed earlier as cysticercotic encephalitis (Figure 1?) with features of intracranial hypertension. Despite being on dexamethasone (8 mg/d) and adequate doses of three anti-epileptic drugs (valproic acid 1250 mg/d; phenytoin 300 mg/d; and clobazam 20 mg/d), he continued to have one to two seizures every month. He denied consumption of pork. Magnetic resonance imaging of the head, done 4 months later, revealed innumerous viable cysticerci containing clear fluid and a scolex ("hole-with-dot" sign1) in the brain parenchyma, scalp and facial muscles, and the tongue (Figure 2). No inflammation was evident around the cysts, on imaging. Two translucent subconjuctival cysts containing a buff-colored scolex were present in his left eye (Figure 2). No focal neurologic deficit was apparent. Funduscopy was unremarkable. Treatment with cysticidal drugs, such as albendazole and praziquantel in patients with cysticercotic encephalitis, could precipitate a life-threatening elevation of the intracranial pressure and hence is contraindicated.2 It remains unclear whether antiparasitic treatment can be given once the inflammation subsides. Cysticidal treatment was deferred in this patient, and anti-epileptic drugs alone were continued