Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.

Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, SOX9 was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.

Congenital massive hiatus hernia type IV; initial experience with laparoscopic repair in young infant.

Congenital massive hiatus hernia (CMHH) is an uncommon disorder during childhood. It can be associated with grave complications especially if presented in the highest grade; type IV, when the hernia contains other intra-peritoneal organ beside the stomach through a large hiatus defect. The insidious form of clinical presentation can be deceptive in diagnosis and may mimic congenital diaphragmatic hernia or other chest pathologies. The basic principle of surgical repair is to reduce the herniated organs, excise the hernia sac, and repair the crural defect and to add anti-reflux procedure with or without gastropexy. Traditionally, this has been done by open approach. Nowadays, the minimally invasive approach is the preferred method of treatment. A sixteen-month-old boy with history of recurrent respiratory symptoms was diagnosed with CMHH type IV for which laparoscopic repair was performed. Few reports in using minimally invasive technique in the management of CMHH in the pediatric age group are present in the literature, to the best of our knowledge type IV had never been described in young infants. We present a new case repaired by laparoscope in a young infant with CMHH type IV from the Middle East.

Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/ß-catenin pathway.

Expansion of polyalanine tracts causes at least nine inherited human diseases. Among these, a polyalanine tract expansion in the poly (A)-binding protein nuclear 1 (expPABPN1) causes oculopharyngeal muscular dystrophy (OPMD). So far, there is no treatment for OPMD patients. Developing drugs that efficiently sustain muscle protection by activating key cell survival mechanisms is a major challenge in OPMD research. Proteins that belong to the Wnt family are known for their role in both human development and adult tissue homeostasis. A hallmark of the Wnt signaling pathway is the increased expression of its central effector, beta-catenin (ß-catenin) by inhibiting one of its upstream effector, glycogen synthase kinase (GSK)3ß. Here, we explored a pharmacological manipulation of a Wnt signaling pathway using lithium chloride (LiCl), a GSK-3ß inhibitor, and observed the enhanced expression of ß-catenin protein as well as the decreased cell death normally observed in an OPMD cell model of murine myoblast (C2C12) expressing the expanded and pathogenic form of the expPABPN1. Furthermore, this effect was also observed in primary cultures of mouse myoblasts expressing expPABPN1. A similar effect on ß-catenin was also observed when lymphoblastoid cells lines (LCLs) derived from OPMD patients were treated with LiCl. We believe manipulation of the Wnt/ß-catenin signaling pathway may represent an effective route for the development of future therapy for patients with OPMD.

The camel jockey's tibial fracture.

An isolated fracture of the middle and lower third of the tibia occurred with marked regularity in a large number of camel-racing jockeys. The mechanism of this fracture was analysed. It was concluded that the compression-rotation of the leg below the knee between the trunks of adjacent racing camels produced this injury, but the sparing of the fibula could not be explained. Simple measures are described such that the incidence of these and other injuries sustained by the jockeys can be markedly reduced.

Physical and sensory attributes of hot-processed and conventionally chilled hams and bellies from electrically stimulated and non-stimulated pork carcasses.

Forty-eight fresh hams and bellies were obtained from 24 market weight hogs (x = 94·5 kg) of which twelve were electrically stimulated (ES) by pulsing current immediately after exsanguination. The left side of each non-stimulated (NS) carcas was fabricated after conditioning for 3h post mortem at 17°C (NS hot-processed). The left sides of ES carcasses were fabricated 1 h pm. The right sides were fabricated following a 24 h cooler chill at 2°C (conventionally chilled: CP). Hams from ESCP carcasses had higher (P < 0·05) smokehouse yields than hams from NS carcasses. Hams that were hot-processed had higher smokehouse yields than the NSCP hams. Time of fabrication (1, 3 or 24h post mortem) did not affect smokehouse yields. Conventionally chilled bellies obtained from ES carcasses showed higher (P < 0·05) residual nitrite levels than those front electrically stimulated hot-processed (ESHP) carcasses. No differences were found for residual nitrite levels in the non-electrically stimulated sides. Panelists were unable to detect any sensory differences from the bacon strips. Sensory scores of ham slices were more juicy for non-stimulated hot-processed carcasses (NSHP) than those from ESHP carcasses. Panelists found the ham slices from NSCP carcasses to be more tender (P < 0·05) than those from electrically stimulated cold-processed (ESCP) carcasses. Results from this study clearly indicated that hot-processing of pork can provide hams and bellies that are acceptable for the production of cured hams and bacon of comparable quality and yield to those currently being produced under conventional processing methods.