Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH).

Context: Recent guidelines suggest that patients with nonclassic congenital adrenal hyperplasia (NCCAH) stop glucocorticoid therapy after achieving adult height. However, these guidelines do not differentiate between NCCAH genotype groups.

Objective: Compare ACTH-stimulated cortisol and 17-hydroxyprogesterone (17OHP) levels, and the rate of partial cortisol insufficiency in subjects with NCCAH carrying one mild and one severe (mild/severe) mutation vs subjects with biallelic mild (mild/mild) mutations.

A personalized approach to lymphoproliferations in patients with inborn errors of immunity.

Biopsies from patients with inborn error of immunity (IEI) may pose a diagnostic challenge due to the abnormal anatomy of their lymphoid organs and the tendency for the development of lymphoproliferations in various organs, some of which may lead to the wrong impression of malignant lymphoma which may prompt aggressive unnecessary treatment. In this article we will review typical histologic findings in various IEI's described in the literature and discuss the appropriate approach to the diagnosis of lymphoproliferations in these patients by presenting illustrative cases.

Upward perturbations trigger a stumbling effect.

Background: Vertical perturbations are one major cause of falling. Incidentally, while conducting a comprehensive study comparing effects of vertical versus horizontal perturbations, we commonly observed a stumbling-like response induced by upward perturbations. The present study describes and characterizes this stumbling effect.

Sexual needs and sexual function of patients with Parkinson's disease.

Background: Sexual dysfunction (SD) is a frequent non-motor symptom in Parkinson's disease (PD) that is rarely addressed, and sexual counseling is sporadic.

Objectives: To investigate PD patients' SD and sexual counseling motivation and to propose an interventional strategy for movement disorder specialists.

Methods: All consecutive PD patients who presented to a movement disorder unit between 2018 and 2019 completed anonymous questionnaires containing the Female Sexual Function Index, the International Index of Erectile Function, and a questionnaire on sexual needs and motivation to receive sexual counseling.

Association of Preoperative Clinical, Laboratory, Imaging, and Pathologic Data With Clinically Beneficial Pathology Among Routine Splenectomy Specimens.

Importance: Previous studies have shown that uniform pathologic review of all splenectomy surgical specimens reveals new clinically actionable diagnoses only in a minority of cases.

Objective: To examine whether the aggregate of clinical, laboratory, imaging, and pathologic preoperative data is associated with a clinically beneficial pathologic study for routine splenectomy surgical specimens.

Design, Setting, And Participants: This single-center retrospective cohort study included all patients who underwent splenectomy from January 1, 2013, through December 31, 2018, at a single center.