Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.

Developmental delay, coarse facial features, and epilepsy in a patient with gene variants.

We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to compound heterozygous likely pathogenic variants. This case report expands the gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway.

Detection of mixed populations of Clostridium difficile from symptomatic patients using capillary-based polymerase chain reaction ribotyping.

Objective: To investigate the simultaneous occurrence of more than 1 Clostridium difficile ribotype in patients' stool samples at the time of diagnostic testing.

Methods: Stool samples submitted for diagnostic testing for the presence of toxigenic C. difficile were obtained for 102 unique patients.

Clostridium difficile ribotype diversity at six health care institutions in the United States.

Capillary-based PCR ribotyping was used to quantify the presence/absence and relative abundance of 98 Clostridium difficile ribotypes from clinical cases of disease at health care institutions in six states of the United States. Regionally important ribotypes were identified, and institutions in close proximity did not necessarily share more ribotype diversity than institutions that were farther apart.

Growth and Progression of TRAMP Prostate Tumors in Relationship to Diet and Obesity.

To clarify effects of diet and body weight on prostate cancer development, three studies were undertaken using the TRAMP mouse model of this disease. In the first experiment, obesity was induced by injection of gold thioglucose (GTG). Age of prostate tumor detection (~33 wk) and death (~43 wk) was not significantly different among the groups.

Clostridium difficile ribotype does not predict severe infection.

Background: Studies of Clostridium difficile outbreaks suggested that certain ribotypes (eg, 027 and 078) cause more severe disease than other ribotypes. A growing number of studies challenge the validity of this hypothesis.

Methods: We conducted a cross-sectional study of C.

Alteration of the murine gut microbiota during infection with the parasitic helminth Heligmosomoides polygyrus.

Background: In a murine model of inflammatory bowel disease (IBD), treatment of colitis in IL-10 gene-deficient mice with the parasitic helminth Heligmosomoides polygyrus ameliorates colonic inflammation. The cellular and molecular mechanisms driving this therapeutic host response are being studied vigorously. One proposed mechanism is that H.

Procedures for ensuring community involvement in multijurisdictional river basins: a comparison of the Murray-Darling and Mekong river basins.

Community involvement is fundamental to the management of multijurisdictional river basins but, in practice, is very difficult to achieve. The Murray-Darling basin, in Australia, and the Mekong River basin in Southeast Asia are both cooperatively managed multijurisdictional river basins where the management authorities have expressed an aim of community involvement. In the Murray-Darling basin vigorous efforts have promoted a culture of community consultation throughout each of the state jurisdictions involved, although true participation has not necessarily been achieved.