Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.

Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).

Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.

[Risk factors for the development and recurrence of pressure ulcers in patients with spinal cord injury: A systematic review.].

Introduction: A spinal cord injury refers to the damage suffered in the spinal cord as a result of trauma, disease or degeneration. Every person with spinal cord injury is at risk of developing pressure ulcers, and almost everyone will develop at least one ulcer due to severe pressure during his or her life.

Objective: To identify the studies that detected risk factors for the development and recurrence of pressure ulcers in patients with spinal cord injury; and, if possible, synthesize the evidence to determine whether an association exists between them.

Mutation update for the SATB2 gene.

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2.

mRCC Outcome in the Treatment of Metastatic Renal Cell Carcinoma - A German Single-center Real-world Experience.

Background/aim: Since the advent of targeted therapeutics, paradigms in metastatic renal cell carcinoma (mRCC) treatment have changed. We investigated if efficacy and safety data from randomized controlled trials can be transferred into real-world settings.

Patients And Methods: All patients with mRCC treated from 2006-2015 at the Department of Urology (Marburg-Germany) were retrospectively analyzed.

Covert Stuttering: Investigation of the Paradigm Shift From Covertly Stuttering to Overtly Stuttering.

Purpose: Covert stuttering is a type of stuttering experience that occurs when a person who stutters conceals his or her stutter from others, attempting to be perceived as a nonstuttering individual. A person who covertly stutters experiences the cognitive and emotional elements of stuttering with minimum overt behavioral symptoms. Individuals who covertly stutter are able to provide insight into their experiences in attempting to be perceived as nonstuttering individuals.

Postpartum relapse to cigarette smoking in inner city women.

Past studies suggest that African American women who quit smoking during pregnancy are more likely to relapse during the postpartum period than white women, although it is not intuitively clear why this should be the case. To shed further light on this issue, two studies were carried out to determine factors that influence smoking cessation during pregnancy and postpartum relapse to smoking in a predominantly low-income African American population. In Study 1, the women were asked to fill out a written survey, and in Study 2, women participated in a structured interview.