Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation.

PTH resistance is characterized by hypocalcemia and hyperphosphatemia in the presence of elevated PTH concentrations, resulting in pseudohypoparathyroidism, which is subdivided into different types according to its different pathogenesis and phenotype. PTH receptor is the alpha subunit of stimulatory G protein (Gα)-coupled receptor. Pathogenic variants of GNAS gene, encoding for Gα, lead to reduced Gα function and PTH resistance.

Changes in esophageal physiology after paraesophageal hernia repair and Collis gastroplasty.

Background: The surgical approach and technique for paraesophageal hernia (PEH) repair is much debated. The changes in the esophageal physiology after PEH repair with a concomitant Collis gastroplasty (PEH-CG) are not clearly known. The aim of this study was to determine the changes in high resolution esophageal manometry (HREM) and esophageal pH testing after PEH-CG.

Role of endoscopic therapy in early esophageal cancer.

Esophageal carcinoma is a highly lethal cancer associated with high morbidity and mortality. Esophageal squamous cell carcinoma and esophageal adenocarcinoma are the two distinct histological types. There has been significant progress in endoscopic diagnosis and treatment of early stages of cancer using resection and ablation techniques, as shown in several trials in the recent past.

Bronchial venous plexus in left ventricular dysfunction.

Chronic pulmonary venous hypertension causes dilatation and engorgement of bronchial veins because of a close communication between bronchial and pulmonary veins. We report a case of severe left ventricular systolic dysfunction with chronically elevated pulmonary venous pressure leading to characteristic bronchoscopic findings of engorgement of bronchial veins.

Inhibitors of catechol-O-methyltransferase in the treatment of neurological disorders.

Catechol-O-methyltransferase (COMT) is the enzyme which catalyzes the transfer of a methyl group from S-adenosylmethionine to catechols and catecholamines, like the neurotransmitters dopamine, epinephrine and norepinephrine. COMT has implications in many neurological and psychiatric disorders like schizophrenia, Parkinson's disease (PD), bipolar disorders, etc. and therefore, it serves as an important drug target.