Multi-system neurological disorder associated with a CRYAB variant.

We report a multiplex family with extended multisystem neurological phenotype associated with a CRYAB variant. Two affected siblings were evaluated with whole exome sequencing, muscle biopsy, laser microdissection, and mass spectrometry-based proteomic analysis. Both patients and their mother manifested a combination of early-onset cataracts, cardiomyopathy, cerebellar ataxia, optic atrophy, cognitive impairment, and myopathy.

Transbronchial Cryobiopsies for the Diagnosis of Diffuse Parenchymal Lung Diseases: Expert Statement from the Cryobiopsy Working Group on Safety and Utility and a Call for Standardization of the Procedure.

Transbronchial cryobiopsies (TBCB) have recently been introduced as a promising and safer alternative to surgical lung biopsy in the diagnostic approach to diffuse parenchymal lung diseases (DPLD). Despite a substantial and expanding body of literature, the technique has not yet been standardized and its place in the diagnostic algorithm of DPLD remains to be defined. In part, this reflects concerns over the diagnostic yield and safety of the procedure, together with the rapid spread of the technique without competency and safety standards; furthermore, there is a substantial procedural variability among centers and interventional pulmonologists.

Impact of co-morbid mental illness on the diagnosis and management of patients hospitalized for medical conditions in a general hospital.

Aims: Comorbidities including hyperglycemia, diabetes, and hypertension are frequently observed in psychiatric patients. Nevertheless, this population has higher rates of morbidity and mortality from medical illnesses compared to non-psychiatric patients. The present study evaluated the diagnosis and management of general medical hospitalized patients with and without mental illness.

Weight loss induced by nutritional and exercise intervention decreases arterial stiffness in obese subjects.

Background & Aims: Obesity is associated with increased arterial stiffness, an early marker of vascular wall damage. However, data on the long-term vascular impact of intentional weight loss are limited. The aim of the present study was to evaluate the effect of weight loss induced by nutritional and exercise intervention on arterial compliance, metabolic and inflammatory parameters in obese patients who participated in a weight reduction program.

The effects of an external nasal dilator on labor.

Background: The aim of this study was to assess the effect of an external nasal dilator on several variables characterizing labor in both mother and fetus.

Methods: One hundred and fifty primigravida women in active labor were randomized to wear, throughout labor, either a dilator spring-loaded nasal strip or a placebo device. Data were obtained during labor and compared between the groups.

Determination of arterial compliance using blood pressure waveform analysis with the CR-2000 system: Reliability, repeatability, and establishment of normal values for healthy European population--the seven European sites study (SESS).

Background: We determined the reliability and repeatability of measurements of arterial compliance (AC) and gender- and age-specific normal ranges for a healthy European population.

Methods: Three hundred eight healthy volunteers from seven sites were evaluated. Two measurements were taken during the first visit, repeated on a second visit 1 to 4 weeks later.