Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism. The proband, offspring of consanguineous parents, presented at age 19 years with absent puberty, no sense of smell, low testosterone and gonadotrophin levels. Magnetic resonance imaging showed olfactory bulb absence. The patient achieved virilization and spermatogenesis with gonadotrophin administration. Two years after discontinuing hormonal therapy, he maintained moderate oligozoospermia and normal testosterone levels. Prok2 and Prok- R2 gene sequence analyses were performed. The proband had a homozygous mutation in Prok-R2 exon 2 that harbours the c.T820>A base substitution, causing the introduction of an aspartic acid in place of valine at position 274 (Val274Asp). His mother had the same mutation in heterozygous state. This report describes a novel homozygous mutation of Prok-R2 gene in a man with variant KS, underlying the role of Prok-R2 gene in the olfactory and reproductive system development in humans. Present findings indicate that markedly delayed activation of gonadotrophin secretion may occur in some KS cases with definite gene defects, and that oligozoospermia might result from a variant form of reversible hypogonadotrophic hypogonadism

The Human Cytomegalovirus UL116 Glycoprotein Is a Chaperone to Control gH-Based Complexes Levels on Virions

Human cytomegalovirus (HCMV) relies in large part upon the viral membrane fusion glycoprotein B and two alternative gH/gL complexes, gH/gL/gO (Trimer) and gH/gL/UL128/UL130/UL131A (Pentamer) to enter into cells. The relative amounts of Trimer and Pentamer vary among HCMV strains and contribute to differences in cell tropism. Although the viral ER resident protein UL148 has been shown to interact with gH to facilitate gO incorporation, the mechanisms that favor the assembly and maturation of one complex over another remain poorly understood. HCMV virions also contain an alternative non-disulfide bound heterodimer comprised of gH and UL116 whose function remains unknown. Here, we show that disruption of HCMV gene UL116 causes infectivity defects of ∼10-fold relative to wild-type virus and leads to reduced expression of both gH/gL complexes in virions. Furthermore, gH that is not covalently bound to other viral glycoproteins, which are readily detected in wild-type HCMV virions, become undetectable in the absence of UL116 suggesting that the gH/UL116 complex is abundant in virions. We find evidence that UL116 and UL148 interact during infection indicating that the two proteins might cooperate to regulate the abundance of HCMV gH complexes. Altogether, these results are consistent with a role of UL116 as a chaperone for gH during the assembly and maturation of gH complexes in infected cells

Confocal Laser Endomicroscopy in the Study of Colonic Mucosa in IBD Patients: A Review

Confocal laser endomicroscopy (CLE) is one of several novel methods that provide real-time, high-resolution imaging at a micronscale via endoscopes. CLE and related technologies are often termed “virtual biopsy” as they simulate the images seen in traditional histology. Recently, the use of CLE was reported in the study of colonic mucosa in patients with inflammatory bowel diseases and in particular in patients affected by ulcerative colitis. CLE has the potential to have an important role in management of IBD patients as it can be used to assess the grading of colitis and in detection of microscopic colitis in endoscopically silent segments. Moreover, CLE can be used in surveillance programs especially in high-risk patients. This report aims to evaluate the current data on the application of confocal endomicroscopy in clinical gastroenterology and particularly in the study of colonic mucosa in UC patients

Development of two multiplex PCRs for microsatellite analysis in Alpine chamois (Rupicapra r. rupicapra)

The study of the genetic diversity gives important information about structure, subdivision in subunits and evolution of populations. Chamois (Rupicapra rupicapra, Linneus 1758) are mountain ungulates belonging to the subfamily Caprinae. They are presently distributed over most of the medium to high altitude mountains in the Southern Europe. Ten distinct geographical populations have been recognised as subspecies (Masini and Lovari, 1988); one of this subspecies, R. r. rupicapra, includes also the chamois living on the Italian Alps

Statistics of fractional moments applied to 3D video streams

© 2014 IEEE. The interest in processing three-dimensional (3D) videos is ever increasing because of the exponential growth of sophisticated devices supporting 3D streams. However, transmitting compressed 3D videos on channels with relatively limited bandwidth resources is a challenging research problem, because of the high variability of 3D streams. A stable and robust characterization of the statistical properties of 3D videos could be very useful for several applications (bandwidth management and control by effective schedulers/controllers, call admission control schemes, etc.). This work proposes a straightforward characterization method, based on the statistics of fractional moments. The properties of long sequences of 3D videos are reduced to a very small set of fitting parameters, constituting the video 'fingerprint'. The method is applied to a set of videos, with different compression degrees. Moreover, possible similarities among different fingerprints are investigated for an effective 3D video classification

SIRT3 Modulates Endothelial Mitochondrial Redox State during Insulin Resistance

Emerging evidence indicates that defects in sirtuin signaling contribute to impaired glucose and lipid metabolism, resulting in insulin resistance (IR) and endothelial dysfunction. Here, we examined the effects of palmitic acid (PA) treatment on mitochondrial sirtuins (SIRT2, SIRT3, SIRT4, and SIRT5) and oxidative homeostasis in human endothelial cells (TeloHAEC). Results showed that treatment for 48 h with PA (0.5 mM) impaired cell viability, induced loss of insulin signaling, imbalanced the oxidative status (p < 0.001), and caused negative modulation of sirtuin protein and mRNA expression, with a predominant effect on SIRT3 (p < 0.001). Restoration of SIRT3 levels by mimic transfection (SIRT3+) suppressed the PA-induced autophagy (mimic NC+PA) (p < 0.01), inflammation, and pyroptosis (p < 0.01) mediated by the NLRP3/caspase-1 axis. Moreover, the unbalanced endothelial redox state induced by PA was counteracted by the antioxidant δ-valerobetaine (δVB), which was able to upregulate protein and mRNA expression of sirtuins, reduce reactive oxygen species (ROS) accumulation, and decrease cell death. Overall, results support the central role of SIRT3 in maintaining the endothelial redox homeostasis under IR and unveil the potential of the antioxidant δVB in enhancing the defense against IR-related injuries

Capsule impaction presenting as acute small bowel perforation: a case series

INTRODUCTION: Perforation caused by capsule endoscopy impaction is extremely rare and, at present, only five cases of perforation from capsule endoscopy impaction are reported in the literature. CASE PRESENTATION: We report here two cases of patients with undiagnosed small bowel stenosis presenting with acute perforation after capsule endoscopy. Strictures in the small bowel were likely the inciting mechanism leading to acute small bowel obstruction and subsequent distension and perforation above the capsule in the area of maximal serosal tension. Case 1 was a 55-year-old Italian woman who underwent capsule endoscopy because of recurrent postprandial cramping pain and iron deficiency anemia, in the setting of negative imaging studies including an abdominal ultrasound, upper endoscopy, colonoscopy and small bowel follow-through radiograph. She developed a symptomatic bowel obstruction approximately 36 hours after ingestion of the capsule. Emergent surgery was performed to remove the capsule, which was impacted at a stenosis due to a previously undiagnosed ileal adenocarcinoma, leading to perforation. Case 2 was a 60-year-old Italian man with recurrent episodes of abdominal pain and diarrhea who underwent capsule endoscopy after conventional modalities, including comprehensive blood and stool studies, computed tomography, an abdominal ultrasound, upper endoscopy, colonoscopy, barium enema and small bowel follow-through, were not diagnostic. Our patient developed abdominal distension, acute periumbilical pain, fever and leukocytosis 20 hours after capsule ingestion. Emergent surgery was performed to remove the capsule, which was impacted at a previously undiagnosed ileal Crohn’s stricture, leading to perforation. CONCLUSIONS: The present report shows that, although the risk of acute complication is very low, the patient should be informed of the risks involved in capsule endoscopy, including the need for emergency surgical exploration