C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients. Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum of this disorder. Genetic analysis revealed a novel mutation in each of the four families investigated, of which three were nonsense mutations and the fourth was a splice site ablation. We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. The lack of correlation between clinically expressivity of WSS and the site of the eight truncating mutations strongly supports that they are equally null, while the intrafamilial variability argues for an important role of modifiers in this disease.     

Computer-assisted quantitative upper airway analysis following modified uvulopalatal flap and lateral pharyngoplasty for obstructive sleep apnoea: a prospective case-controlled study

Clin. Otolaryngol. 2012, 37 , 188–196 Objectives: The study aims to perform static and dynamic quantitative assessment of the anatomical changes of the upper airway before and after modified uvulopalatal flap and lateral pharyngoplasty and comparison of the improvement in airway dimensions, collapsibility and extent of normalisation to that of control patients. Design: Prospective case‐controlled study. Setting: Computer‐assisted quantitative measurement is used to compare upper airway parameters before and after modified uvulopalatal flap and lateral pharyngoplasty in patients with obstructive sleep apnoea (OSA). Participants: Patients with obstructive sleep apnoea diagnosed on sleep study and failed positive airway pressure therapy. Main outcome measures: Sleep study results, upper airway parameters and symptom score following surgery and its comparison to normal patients to assess the degree and extent of normalisation. Results: Thirty‐five study and 32 control subjects were recruited and completed the study. All the retropalatal airway dimensions like area, transverse diameter, longitudinal diameter and collapsibility showed statistically significant improvement following surgery. The success rate of this surgery is 43% (15 of 35) overall, 58% (14 of 24) for patients with isolated palatal obstruction and only 9% (1 of 11) for patients with multi‐level obstruction. Comparing obstructive sleep apnoea to the control subjects, there are obvious and logical differences in their biostatistics, sleep study parameters and airway dimensions. The postoperative obstructive sleep apnoea retropalatal longitudinal diameter has a higher tendency of normalising to be comparable to those of control patients. Conclusions: Modified uvulopalatal flap and lateral pharyngoplasty is an effective surgical technique for the treatment of obstructive sleep apnoea. The surgery increases the resting retropalatal dimensions and reduces the retropalatal collapsibility.     

Solid pseudopapillary neoplasms of the pancreas: an updated experience

INTRODUCTION: The aim of this study is to report an update of the surgical experience at a single institution with these unusual tumors. METHODS: Sixteen consecutive patients who underwent surgery for a pathologically confirmed solid pseudopapillary neoplasm (SPPN) were retrospectively reviewed. RESULTS: Fifteen of the patients were female and the median age at diagnosis was 30 years (range, 14-53 years). Abdominal and back pain were the most common presenting symptoms. The tumors appeared on cross-sectional imaging as solid and cystic (n = 14) or cystic (n = 2) masses. The median tumor size was 9.5 cm (range, 5.0-24.0 cm). All 16 patients had curative resections including 3 pancreaticoduodenectomies and 13 distal pancreatectomies. Three patients required extended resections including pancreaticoduodenectomy with portal vein resection, distal pancreatectomy with tranverse colectomy, and distal pancreactomy with omentectomy. Two of the resections were R1 whereas 14 were R0. All patients were alive and disease-free at a median follow-up of 43 months (range, 3-186 months). CONCLUSION: SPPNs should be considered in young women presenting with a large solid-cystic pancreatic mass. Aggressive en bloc resection should always be attempted including resection of concomitant metastases as patients demonstrate excellent long-term survival even in the presence of distant spread.     

The co-occurrence of serologically proven myasthenia gravis and Miller Fisher/Guillain Barré overlap syndrome: a case report

The co-occurrence of myasthenia gravis (MG) and Guillain Barré syndrome (GBS) is uncommon with a few reported cases in the literature. There is only one reported case of MG and Miller Fisher variant of GBS. We described an 84 year old Chinese woman with underlying seropositive myasthenia gravis (MG) who presented with ophthalmoplegia, areflexia and acute neuromuscular weakness. She was proved to have co-occurrence of MG and GBS/Miller Fisher overlap syndrome with positive anti-GQ1b antibody. The unusual finding in this patient raises an interesting question on their pathogenesis with the possibility that prior activation of the immune system may predispose the development of autoantibodies against other antigens within the same set of muscles.     

A Single-Institution Experience with Eight CD117-Positive Primary Extragastrointestinal Stromal Tumors: Critical Appraisal and a Comparison with Their Gastrointestinal Counterparts

Introduction  Gastrointestinal stromal tumors (GISTs) arising from outside the gut wall also termed extragastrointestinal stromal tumors (EGISTs) are reported to be rare. Presently, their pathogenesis remains controversial, and recently, it has been proposed that EGISTs may be the result of extensive extramural growth of GISTs which lose contact with the gut wall. This study presents a single-institution experience with eight EGISTs and compares their clinicopathological features with mural GISTs in order to determine further insight to their possible origin. Methods  Between 1997 and 2008, 156 patients with pathologically proven CD117-positive primary GISTs were retrospectively reviewed. Eight tumors were identified as EGISTs, 104 were gastric GISTs, and 44 were small-bowel GISTs. Mural GISTs were classified as extramural or intra/transmural according to their gross pattern of growth. Results  There were five male and three female patients with a median age of 58 years (range, 42–81 years). All patients were symptomatic, and the tumors were located in the greater omentum (n = 2), lesser sac (n = 2), lesser omentum, retroperitoneum, small-bowel mesentery, and pancreas. The median tumor size was 140 mm (range, 55 to 220 mm). Seven of eight EGISTs were found to be in close association to the adjacent gut wall. Pathological examination demonstrated that two tumors demonstrated focal involvement of the muscularis propria of the adjacent gut wall. Four tumors demonstrated tumor abutting or adherent to the serosa but no muscle involvement and one tumor was separated from the serosa. Comparison between the clinicopathological features of EGISTs with extramural GISTs and intra/transmural GISTs demonstrated that EGISTs were significantly larger [140 range (55–220) mm vs 80 (5–260) mm vs 50 (15–190) mm, P = 0.049, P < 0.001 respectively]. Conclusion  The occurrence of true EGISTs is rare. Most cases demonstrate some form of communication or contact with the gut wall, and EGISTs are significantly larger than extramural or intra/transmural GIST. These observations suggest that most, if not all, cases of EGISTs are likely to represent mural GISTs with extensive extramural growth with eventual loss of contact with the muscle layer of the gut.     

Surgical treatment for infectious tricuspid valve endocarditis with ventricular septal defect; report of a case

We report a case of tricuspid valve endocarditis with a ventricular septal defect (VSD). A 54-year-old female who had a history of dental therapy admitted to our hospital with a fever of unknown origin. Echocardiography showed vegetation attached to the tricuspid valve and small VSD. The direct closure of VSD and tricuspid valve replacement was performed. The patient's postoperative course was uneventful.