Sanaz Sakiani

Expansion of Germline Variants in Primary Hyperparathyroidism: Fumarate Hydratase Deficiency as a Cause of Parathyroid Adenomas

Hussam Alkaissi, Elías Chuki, Liu Y, James Welch et autres

A substantial fraction (60-85%) of hereditary primary hyperparathyroidism (hPHPT) lacks an identifiable genetic etiology. We describe fumarate hydratase (FH) mutations as a potential cause of hPHPT, expanding the phenotypic spectrum of FH deficiency tumor predisposition syndromes. In an index patient who presented …

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Increases in Apolipoprotein B Correlate With Changes in Circulating Ketone Concentrations at the Onset of Isoenergetic Ketogenic Diets

Aaron Hengist, Eleanor U. Flacke, OLIVIA A. CHARLES, Christopher Colvin et autres

Objectives: Ketogenic diets increase apolipoprotein B (apoB) concentrations and atherogenic lipoproteins despite fat loss after 4 weeks. We explored acute changes in apoB and lipoprotein profile after 5 days of isoenergetic ketogenic diet and association with plasma ketones.

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A Challenging Case of Adrenal Insufficiency Presenting with Hypertensive Crisis

Ahmad Al‐Abdouh, Ghazal Kooshk Jalali, Sanaz Sakiani

Adrenal insufficiency is the deficient production or action of glucocorticoids, with or without deficiency in mineralocorticoids or adrenal androgens. It usually presents with anorexia, abdominal pain, weakness, weight loss, fatigue, and hypotension. We report a case of 67 year old male, who …

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Gonadal steroids and humoral immunity

Sanaz Sakiani, Nancy J. Olsen, William J. Kovacs

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