APASL consensus statements and recommendations for hepatitis C prevention, epidemiology, and laboratory testing

The Asian Pacific Association for the Study of the Liver (APASL) convened an international working party on “APASL consensus statements and recommendations for management of hepatitis C” in March 2015 to revise the “APASL consensus statements and management algorithms for hepatitis C virus infection” (Hepatol Int 6:409–435, 2012). The working party consisted of expert hepatologists from the Asian–Pacific region gathered at the Istanbul Congress Center, Istanbul, Turkey on 13 March 2015. New data were presented, discussed, and debated during the course of drafting a revision. Participants of the consensus meeting assessed the quality of the cited studies. The finalized recommendations for hepatitis C prevention, epidemiology, and laboratory testing are presented in this review

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet’s disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still’s disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome

Approach to a child with primary immunodeficiency made simple

Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood. Clinically, this group of disorders can involve any organ system of an individual such as respiratory system, gastrointestinal system, skin and mucous membrane, bone and joints, endocrine organs, and nervous system. Common dermatological manifestations include eczema, warts, molluscum contagiosum, mucocutaneous candidiasis, recurrent nonhealing ulcers, skin abscesses, erythroderma, petechiae, and nail changes. The common skin manifestations of various PIDs include eczema (seen in Wiskott–Aldrich syndrome and autosomal dominant hyper IgE syndrome); erythroderma (in Omen syndrome); viral warts or molluscum contagiosum (in autosomal recessive hyper IgE syndrome); chronic mucocutaneous candidiasis (in hyper IgE syndrome, autoimmune polyendocrinopathy candidiasis ectodermal dysplasia syndrome, Th17 cell defects); recurrent nonhealing ulcers (in leucocyte adhesion defect); skin abscesses (in antibody defects, hyper IgE syndrome, and chronic granulomatous disease); petechial or purpuric spots (in Wiskott–Aldrich syndrome)

An updated review on phenocopies of primary immunodeficiency diseases

Primary immunodeficiency diseases (PIDs) refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections, autoimmunity and increased risk of malignancies.These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as “Phenocopies of PIDs”. These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines.In this review, we provide an update on clinical manifestations, diagnosis and management of these diseases. Keywords: Anti-cytokine antibodies, Phenocopies, Primary immunodeficiency diseases, Somatic mutation

Treatment adherence and its determinants among the rheumatic fever/rheumatic heart disease patients during COVID 19 pandemic – A cross sectional study from Chandigarh, India

Background: Rheumatic heart disease/Rheumatic fever is a non – communicable disease being a major neglected health problem. Recurrent attacks of rheumatic fever can have catastrophic outcomes, therefore regular administration of antibiotics is recommended. During COVID 19 pandemic, people were afraid to approach hospitals hence the compliance and follow up of patients were affected. This study had planned to assess the treatment adherence of patients diagnosed with rheumatic fever/rheumatic heart disease during COVID 19 pandemic and to describe the socio demographic factors, clinical characteristics. This study also determines the factors associated with the treatment adherence. Methods: A cross sectional study was conducted among Rheumatic Fever/Rheumatic Heart Disease patients, attending Outpatient department at tertiary care hospital during COVID 19 pandemic. Mean score with confidence interval was calculated for quantitative data. P value less than 0.05 is significant. Results: The Mean (SD) age of the study participants was 41 ± 14.17 years. Treatment adherence was found to be 94.5 percent among Rheumatic Fever/Rheumatic Heart Disease patients during COVID 19 pandemic. 89.5% of injection benzathine penicillin users had an adherence rate above 80 percent. It was found that the presence of comorbidities (Diabetes/Hypertension/both Diabetes and Hypertension) had a statistically significant association with treatment adherence. Conclusions: Rheumatic Heart Disease is a disease of young and middle -age population affecting predominantly females. The overall adherence rate among Rheumatic Fever/Rheumatic Heart Disease patients was high. High time to maintain hospital-based registry to have follow up of patients

DRESS syndrome due to first-line antitubercular therapy – A diagnostic imbroglio!

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome after the use of first-line antitubercular drugs (ATDs) is rare and literature regarding DRESS syndrome due to ATDs is scarce in children. We report a young boy with tuberculosis who developed DRESS syndrome after exposure to isoniazid. A 9-year-old boy, diagnosed clinically as pulmonary tuberculosis, presented with fever, fast breathing, maculopapular rash, and one episode of gross hematuria. He had been on 4-drug ATD therapy (isoniazid, rifampicin, ethambutol, and pyrazinamide) for the past 4 weeks. In view of multiorgan involvement and absence of a microbiological diagnosis of tuberculosis, vasculitis was considered and he was treated with steroids. As the child recovered, both corticosteroids and ATD therapy were stopped. At 6 months of follow-up, he was presented with pneumonia. Microbiological diagnosis of tuberculosis was made and 4-drug ATD therapy was reinitiated. After 15 days, he again developed a high-grade fever and rash. On evaluation, isoniazid-induced DRESS syndrome was diagnosed. Subsequently, he received a modified regimen of ethambutol, pyrazinamide, levofloxacin, and linezolid. DRESS syndrome did not recur on these ATDs and the child became asymptomatic. Linezolid was stopped after 3 months of therapy and ethambutol, pyrazinamide, and levofloxacin are being continued. Currently, he has completed 15 months of modified ATD therapy. As a high index of suspicion is required for early diagnosis and management that are crucial to reducing morbidity and mortality, DRESS syndrome should be among the differentials in children with unexplained febrile illnesses

Successful Management of Catastrophic Thrombotic Storm in a Young Boy

Thrombotic storm is a rare clinical entity characterized by acute to subacute thrombosis developing at multiple sites over a few days to a few weeks. An 11-year-old boy presented with headache and facial nerve palsy. He was found to have cortical sinus venous thrombosis and was initiated on low molecular weight heparin, but rapidly progressed with thromboses involving the pulmonary arteries and deep veins of the legs. Thereafter managed on high-dose unfractionated heparin, he eventually stabilized after a hospital stay of 34 days. Genetic analysis showed potentially pathogenic variants in the factor V and stabilin-2 genes

APASL clinical practice recommendation: how to treat HCV-infected patients with renal impairment?

Chronic hepatitis C virus (HCV) infection is common among patients with chronic kidney disease (CKD) and those on hemodialysis due to nosocomial infections and past blood transfusions. While a majority of HCV-infected patients with end-stage renal disease are asymptomatic, some may ultimately experience decompensated liver diseases and hepatocellular carcinoma. Administration of a combination of elbasvir/grazoprevir for 12\ua0weeks leads to high sustained virologic response (SVR) rates in patients with HCV genotypes (GTs) 1a, 1b or 4 and stage 4 or 5 CKD. Furthermore, a combination of glecaprevir/pibrentasvir for 8–16\ua0weeks also results in high SVR rates in patients with all HCV GTs and stage 4 or 5 CKD. However, these regimens are contraindicated in the presence of advanced decompensated cirrhosis. Although sofosbuvir and/or ribavirin are not generally recommended for HCV-infected patients with severe renal impairment, sofosbuvir-based regimens may be appropriate for those with mild renal impairment. To eliminate HCV worldwide, HCV-infected patients with renal impairment should be treated with interferon-free therapies