Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.

Background: Neurodevelopmental disorders (NDDs), such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are examples of complex and partially overlapping phenotypes that often lack definitive corroborating genetic information. ADHD and ASD have complex genetic associations implicated by rare recurrent copy number variations (CNVs). Both of these NDDs have been shown to share similar biological etiologies as well as genetic pleiotropy.

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.

Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases, we examine the CNV genomic landscape of 100,028 unrelated individuals of European ancestry, using SNP and CGH array datasets. We observe an average CNV burden of ~650 kb, identifying a total of 11,314 deletion, 5625 duplication, and 2746 homozygous deletion CNV regions (CNVRs).

Intracorporeal versus extracorporeal anastomosis after laparoscopic left colectomy for splenic flexure cancer: results from a multi-institutional audit on 181 consecutive patients.

Although intracorporeal anastomosis has been demonstrated to be safe and effective after right colectomy, limited data are available about its efficacy after left colectomy for colon cancer located in splenic flexure. A multi-institutional audit was designed, including 92 patients who underwent laparoscopic left colectomy with intracorporeal anastomosis (IA) compared with 89 matched patients who underwent a laparoscopic left colectomy with extracorporeal anastomosis (EA). There was no significant difference in terms of age, sex, BMI, and ASA score between the two groups.

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.

Intracorporeal versus Extracorporeal Anastomoses Following Laparoscopic Right Colectomy in Obese Patients: A Case-Matched Study.

Background/aims: To compare short- and long-term outcomes of intracorporeal anastomosis (IA) versus extracorporeal anastomosis (EA) in obese (body mass index >30 kg/m2) patients.

Patients And Methods: Sixty-four consecutive obese patients who underwent laparoscopic (LPS) right colectomy with IA were matched with 64 patients who underwent LPS right colectomy with EA. Intraoperative variables, short-term outcomes, readmission rates, and morbidity and mortality rates were analyzed along with long-term outcomes.

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10; OR = 0.

Prevalence of constipation in a tertiary referral Italian Colorectal Unit.

Introduction: Epidemiology data on constipation are not commonly available, particularly in Italy Here we review the prevalence and clinical features of constipated patients attending a tertiary referral Italian center.

Methods: Clinical data of patients attending our Coloproctology Unit in the last 15 years and complaining of constipation as the main clinical features were retrospectively analyzed. Rome-III criteria were adoptedto define constipation.