In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 () in an -Negative Boy with a 46,XX Disorder of Sex Development.

Disorders of sexual development (DSDs) encompass a group of congenital conditions associated with atypical development of internal and external genital structures. Among those with DSDs are 46,XX males, whose condition mainly arises due to the translocation of onto an X chromosome or an autosome. In the few -negative 46,XX males, overexpression of other pro-testis genes or failure of pro-ovarian/anti-testis genes may be involved, even if a non-negligible number of cases remain unexplained.

Eosinophilia and potential antibody cross-reactivity between parasites in a child with pinworm and immune dysregulation: a case report.

Background: Intestinal parasitic infections are common in humans, especially among young children. These conditions are often asymptomatic and self-limiting, and diagnosis is mainly based on the search for ova and parasites in the stools since serology may be biased due to cross reactivity between parasites. Pinworm is common in children and is not usually associated with hypereosinophilia; adhesive-tape test is the gold standard testing for the microscopic detection of Enterobious vermicularis (Ev) eggs.

Emotional dysregulation and callous unemotional traits as possible predictors of short-term response to methylphenidate monotherapy in drug-naïve youth with ADHD.

Background: Emotional dysregulation (ED) and callous unemotional (CU) traits can be associated with ADHD in youth, influencing its natural history and outcome, but their effect on medication efficacy is unexplored. We examined whether two measures of baseline ED and CU traits, the Child Behavior Checklist-Dysregulation Profile (CBCL-DP) and the Antisocial Process Screening Device (APSD), respectively, were predictors of change of ADHD-Rating Scale (ADHD-RS) after a 4-week methylphenidate (MPH) monotherapy.

Methods: 43 patients (37 males, 8-16 years, mean 9.