Vitamin D receptor gene polymorphisms and bone mass indices in post-menarchal Indian adolescent girls

To study the association between vitamin D receptor (VDR) gene polymorphisms and bone mass indices in adolescent girls, a cross-sectional study was conducted in 120 post-menarchal girls aged 15–18 years in Pune city, India. Serum levels of ionised calcium, inorganic phosphorous, parathyroid hormone and 25-hydroxy vitamin-D were measured. Bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) were measured at total body (TB), lumbar spine (LS) and left femoral neck (FN) using dual energy X-ray absorptiometry. Polymorphisms of the VDR gene at the Fok1 and Bsm1 loci were detected using SYBR Green quantitative polymerase chain reaction. The overall distribution of genotypes at the Bsm1 locus in this study was 33.3 % Bb, 29.2 % bb and 37.5 % BB while that for the Fok1 locus was 44.2 % Ff, 7.5 % ff and 48.3 % FF. There were no significant differences in the blood parameters when classified according to Bsm1 or Fok1 genotypes. Subjects with BB genotype have significantly higher mean TBBMC, TBBA, TBBMD and LSBMD than Bb and bb (p < 0.05) and showed a tendency for association with LSBMC and LSBA (p < 0.1). Subjects with Ff genotype showed a tendency for association with left FNBMC and FNBA (p < 0.1). Bsm1 genotype did not show an association with FN bone indices whereas Fok1 genotype did not show association with TB or LS bone indices. In conclusion, the present study demonstrates VDR gene polymorphism, defined by Bsm1 genotype, has an influence on total body and lumbar spine bone mass indices in post-menarchal Indian girls.     

A rare presentation of hepatic and splenic cystic malignant fibrous histiocytoma: A case report and literature review

INTRODUCTIONMalignant fibrous histiocytoma is one of the most common soft tissue sarcomas in late adult life. But primary visceral malignant fibrous histiocytoma is a very rare entity. In peripheries, it is known to have an aggressive behavior but its biological pattern when involving liver and spleen is not well understood due to the rarity of its occurrence.PRESENTATION OF CASEA case of malignant fibrous histiocytoma of the liver and spleen as multiple cystic lesions in a 30 years old man is reported. The patient presented with hepatosplenomegaly resulting in central abdominal distention. Pre-operative investigations pointed toward the diagnosis of malignant cystic disease. The tumor presented as multiple hepatic cysts with massive hepatomegaly and splenomegaly. These cysts contained hemorrhagic fluid. Biopsy revealed highly cellular pleomorphic spindle cells fascicles arranged in storiform pattern at places with frequent mitoses. Immunohistochemistry revealed viamentin positivity. The tumor is compared with previous case reports.DISCUSSIONMalignant fibrous histiocytoma of liver and spleen has been mentioned in the literature as isolated case reports and most of these present as solid lesions but presentation as multiple cysts is also a possibility as was seen in this patient. It can be confirmed only on histo-pathology supported by immunohistochemistry. The disease carries guarded prognosis due to its rapid progression and diagnostic dilemma pre-operatively.CONCLUSIONThis rare malignancy affecting the viscera can be diagnosed only with high index of suspicion and awareness regarding its presentation can help surgeons deal with it.     

Human pluripotent stem cell-derived functional sympathetic neurons express ACE2 and RAAS components: a framework for studying the effect of COVID-19 on sympathetic responsiveness

Clinical Autonomic Research -     

Association of Toll-like receptor-4 (Asp299Gly and Thr399Ileu) gene polymorphisms with gastritis and precancerous lesions

A Toll-like receptor-4 (TLR-4) Asp299Gly and Thr399Ileu substitution reduces responsiveness to Helicobacter pylori (H. pylori) lipopolysaccharide. CagA+ strains of H. pylori are known to be associated with gastroduodenal diseases. Therefore we aimed to evaluate association of TLR-4 substitutions and CagA seropositivity with gastritis and precancerous lesions in a northern Indian population. After upper gastrointestinal endoscopy, 130 rapid urease test (RUT)-positive patients with nonulcer dyspepsia (NUD) were included. Patients with NUD were also screened for H. pylori infection using modified Giemsa staining and anti-CagA IgG enzyme-linked immunoabsorbent assay. All patients and 200 asymptomatic control subjects were genotyped for TLR-4 substitutions using polymerase chain reaction-restriction fragment length polymorphism. We observed that frequencies of TLR-4 Asp299Gly variants were comparable between patients and control subjects, and also between positive and negative groups of precancerous lesions in patients. Frequencies of TLR-4 399Ileu allele (8% vs 3%, p = 0.008) and Asp299-Ileu399 haplotype (6.5% vs 3%, p = 0.022) were higher in patients than in control subjects at risk for gastritis (OR = 2.6 and 2.5, respectively). TLR-4 399Ileu allele carriers had higher risk for plasma cell infiltration (p = 0.023, OR = 10.6) that led to atrophy (p = 0.028, OR = 4.2) and intestinal metaplasia (p = 0.009, OR = 4.7). CagA positivity was more frequently associated with lymphoid follicle formation (p = 0.033, OR = 2.53). In conclusion TLR-4 Thr399Ileu substitution may be a risk factor for gastritis and precancerous lesions. CagA positivity may be a risk factor for lymphoid follicle development but not for other precancerous lesions in a northern Indian population.     

Perioperative Outcomes of Melanoma Patients Undergoing Surgery After Receiving Immunotherapy or Targeted Therapy

World Journal of Surgery - Traditional chemotherapy agents adversely affect wound healing and need to be held prior to or after surgery. Immune checkpoint inhibitors (ICIs) and targeted agents are...