A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients

neurogenetics - Twelve patients from seven unrelated South Indian families with a limb-girdle muscular dystrophy-congenital myasthenic syndrome (LGMD/CMS) phenotype and recessive inheritance...     

Tea polyphenols for the prevention of UVB‐induced skin cancer

Skin cancer is the most common type of cancer with increasing incidence rate and public health burden. Solar ultraviolet (UV) radiation causes an array of damaging cellular and molecular events that eventually lead to the development of skin cancer. Despite increased awareness about sun protection, the exposure rate remains high with less than 15% of men and 30% of women using sunscreen on a regular basis. Therefore, there is an imperative need for the development of novel preventive approaches. Skin cancer chemoprevention using phytochemicals either as dietary supplements or by topical applications has gained considerable attention due to their low toxicity, availability, and anticarcinogenic properties. Tea, the second most commonly consumed beverage in the world, is a rich source of promising phytochemicals known as polyphenols. In this review, we discuss the findings of various in vitro, in vivo and human studies signifying the chemopreventive effects of tea polyphenols against UVB‐induced skin cancer. This is accomplished by exploring the role of tea polyphenols in DNA repair, inflammation, oxidative stress, signaling pathways, and epigenetics. Finally, this review discusses a variety of innovative delivery methods that enhance the photochemopreventive effects of tea polyphenols against skin cancer.     

Arduous redo made simple by “lateral approach”-pulmonary valve replacement via mini left thoracotomy

We present a follow-up case of total anomalous pulmonary vein repair and pulmonary valvotomy done 21 years back presented with severe pulmonary regurgitation. Magnetic resonance imaging shows the right ventricle end-diastolic volume and end-systolic volume being 185 mL/m² and 80 mL/m², respectively. In addition to it the patient had had severe kyphoscoliosis causing severe pulmonary restriction. The patient underwent mechanical pulmonary valve replacement through a mini left thoracotomy. The patient had an uneventful recovery was discharged on postoperative day 6, and was in class 1 on follow-up at 3 and 6 months of surgery.     

The Effects of an Albumin Binding Moiety on the Targeting and Pharmacokinetics of an Integrin αvβ6-Selective Peptide Labeled with Aluminum [18F]Fluoride

Molecular Imaging and Biology - The αvβ6-BP peptide selectively targets the integrin αvβ6, a cell surface receptor recognized as a prognostic indicator for several challenging...     

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

Background and PurposePathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature.MethodsA detailed evaluation was conducted of the clinical, muscle magnetic resonance imaging (MRI), and genetic findings of two unrelated adults with MYPN-related cap myopathy. Genetic analysis was performed using whole-exome sequencing. MRI was performed on a 1.5-T device in patient 1.ResultsTwo unrelated adults born to consanguineous parents, a 28-year-old male and a 23-year-old female, were diagnosed with pathogenic variants in MYPN that cause cap myopathy. Both patients presented with early-onset, insidiously progressive, and minimally disabling proximodistal weakness with mild ptosis, facial weakness, and bulbar symptoms. Patient 1 had a prominent foot drop from the onset. Both patients were followed up at age 30 years, at which point serum creatine kinase concentrations were minimally elevated. There were no cardiac symptoms; electrocardiograms and two-dimensional echocardiograms were normal in both patients. Muscle MRI revealed preferential involvement of the glutei, posterior thigh muscles, and anterior leg muscles. Whole-exome sequencing revealed significant homozygous splice-site variants in both of the probands, affecting intron 10 of MYPN: c.1973+1G>C (patient 1) and c.1974-2A>C (patient 2).ConclusionsThis study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.