PMP22 Gene–Associated Neuropathies: Phenotypic Spectrum in a Cohort from India

Journal of Molecular Neuroscience - Reports of spectrum of clinical manifestations in PMP22 gene–associated neuropathies (duplication/mutations) are scarce. To identify the frequency of PMP22...     

Nutritional Status of Individuals with Autism Spectrum Disorders: Do We Know Enough?

The incidence of individuals with autism spectrum disorders (ASDs) is on the rise; therefore, well-timed screening is important. Given that this is a nutritionally vulnerable population, it is imperative to conduct a detailed nutritional assessment so that timely and intensive interventions can be recommended. This review article summarizes the research, focusing on the nutritional status of individuals with ASDs based on their anthropometric measurements, biomarkers, and dietary assessments. Research examining anthropometric measurements reveals an abnormally accelerated rate of growth among children with autism but shows inconsistent findings on the prevalence of overweight/obesity in comparison with typically growing children. Although dysregulated amino acid metabolism, increased homocysteine, and decreased folate, vitamins B-6 and B-12, and vitamin D concentrations have been proposed as possible biomarkers for an early diagnosis of ASDs, research investigating their association with age, gender, severity, and other comorbid psychiatric/nonpsychiatric disorders is lacking. There is consensus that children with autism have selective eating patterns, food neophobia, limited food repertoire, and sensory issues. Although inadequate micronutrient but adequate macronutrient intakes are increasingly reported, there are inconsistent results about the extent and type of nutrient deficiencies. Identification and development of nutritional assessment indicators that serve as early warning signs during routine practice beginning at birth and extending throughout the child’s growth are necessary. With this population aging, there is also a dire need to study the adult population. A more vigorous role by nutrition professionals is warranted because management of potential comorbidities and contributory factors may be particularly problematic.     

High Prevalence of Biofilm-Forming MRSA in the Conjunctival Flora in Chronic Dacryocystitis

Objectives: To report the microbiological spectrum of conjunctival flora and prevalence of biofilm-forming Methicillin-resistant Staphylococcus aureus (MRSA) in conjunctival flora in chronic dacryocystitis.

Design: Prospective, case-control study.

Methods: We included patients with unilateral chronic dacryocystitis, and their unaffected eyes as control. Microbiological profile and antibiotic susceptibility of the isolates was determined by standard microbiological procedures. S. aureus isolates were further evaluated for Methicillin resistance by Oxacillin resistance screening agar method and mecA polymerase chain reaction (PCR) and for biofilm synthesis by Congo red agar method, Microtitre plate (MTP) assay, and ica A and ica D PCR.

Results: We found 95 patients with unilateral chronic dacryocystitis. Aerobic Gram-positive isolates (74.2%, n = 72) were more than Gram-negative (25.7%, n = 25) or anaerobic isolates (20.5%, n = 25). S. aureus was most common (46.4%, n = 45), followed by Pseudomonas aeruginosa (10.3%, n = 10). Gram-positive isolates showed highest sensitivity to Linezolid (100%) and higher generation fluoroquinolones. Gram-negative isolates showed good sensitivity (>90%) to all tested antibiotics. S. aureus isolates showed MRSA prevalence as 93.5% and 96.9% by Oxacillin resistance screening agar method and mecA PCR, respectively. Biofilm formation was found in 71.8% MRSA isolates by MTP assay and 58.1% MRSA isolates were resistant to ≥3 classes of antibiotics.

Conclusions: Gram-positive organisms, specifically S. aureus, are the major etiological agent in chronic dacryocystitis. There is high prevalence of MRSA in these isolates and concurrent biofilm formation.     

Polymorphism in interferon λ3/interleukin-28B gene and risk to noncirrhotic chronic hepatitis C genotype 3 virus infection and its effect on the response to combined daclatasvir and sofosbuvir therapy

Hepatitis C virus (HCV) infection is a considerable public-health problem and an important cause of liver disease with about 71 million people infected worldwide and more than 399 000 people die every year from hepatitis C-related liver diseases. The present study was, therefore, initiated to investigate the association of polymorphism in interferon λ3 (IFNL3) also known as interleukin-28B (IL-28B) gene with chronic HCV infection and association of these polymorphic variants with the combination daclatasvir and sofosbuvir HCV therapy response. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a total of 250 chronic HCV genotype three patients and 500 number of healthy controls. Our data revealed that the TT (minor) genotype of IFNL3 (rs12979860) and GG (minor) genotype of IFNL3 (rs8099917) exhibited a significant association with chronic HCV genotype 3 infection when compared with controls. The results of treatment response showed that CC (major) genotype of IFNL3 (rs12979860) and TT (major) genotype of IFNL3 (rs8099917) are associated with the likelihood of achieving a higher sustained virological response (SVR), to combined daclatasvir and sofosbuvir therapy, in genotype 3-infected HCV patients, whereas the individuals with TT (minor) genotype of IFNL3 (rs12979860) and GG (minor) genotype of IFNL3 (rs8099917) are more susceptible to chronic HCV infection and treatment relapse, suggesting a role of IFNL3 (rs12979860) and (rs8099917) in the treatment outcome of combined daclatasvir and sofosbuvir therapy in chronic HCV genotype 3 infection.