Chondroid syringoma of the philtral dimple

A chondroid syringoma (CS) is an exceedingly rare mixed tumor of the skin. These tumors are relatively common in the head and neck area. Occurrence of these tumors in the philtrum is rare, with only two documented cases in English literature to the best of our knowledge. This paper presents a case of CS of the philtral dimple with aesthetically excellent philtrum reconstruction

The conundrum of deep vein thrombosis prophylaxis in burns in India and review of literature

Objective: The aim is to assess the practice of deep vein thrombosis (DVT) prophylaxis among the plastic surgeons attending National Academy of Burns India Conference 2012 (NABICON 2012). Background: DVT prophylaxis in burns is a controversial issue as there is no consensus among the community of burn surgeons about the prevalence of DVT, the incidence of pulmonary embolism, the indications for DVT prophylaxis, dosage and duration of low molecular weight heparins (LMWH) and the complications related to DVT and LMWH. Methodology: A survey was conducted among plastic surgeons attending the NABICON 2012 held at New Delhi, by circulating a questionnaire. The respondents were divided into two groups based on whether burns constituted more than or less than 50% of their practice. The data thus collected were tabulated and analysed. Results: Almost 70% of all the respondents practice some form of DVT prophylaxis. There was significantly higher incidence of complications related to the use of LMWH among the surgeons whose practice of burns was >50%. There was no significant difference between the two groups in relation to the incidence and complication of DVT or recommendation of DVT prophylaxis. Conclusion: Majority of plastic surgeons practice DVT prophylaxis routinely and consider multiple criteria such as percentage of burns, age, lower limb involvement, the degree of burns and associated co-morbidities for starting the LMWH

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome

The objective of this study was to report the clinical phenotype and genetic analysis of two Indian families with Escobar syndrome (ES). The diagnosis of ES in both families was made on the basis of published clinical features. Blood samples were collected from members of both families and used in genomic DNA isolation. The entire coding regions and intron-exon junctions of the ES gene CHRNG (cholinergic receptor, nicotinic, gamma), and two other related genes, CHRND and CHRNA1, were amplified and sequenced to search for mutations in both families. Both families show a typical form of ES. Sequencing of the entire coding regions including the intron-exon junctions of the three genes did not yield any mutations in these families. In conclusion, it is possible that the mutations in these genes are located in the promoter or deep intronic regions that we failed to identify or the ES in these families is caused by mutations in a different gene. The lack of mutations in CHRNG has also been reported in several families, suggesting the possibility of at least one more gene for this syndrome. Clin Dysmorphol 22:54-58 (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins

Intraoperative Nerve Monitoring during Minimally Invasive Esophagectomy and 3-Field Lymphadenectomy: Safety, Efficacy, and Feasibility

Background: The objective of this study was to demonstrate the safety, efficacy, and feasibility of intraoperative monitoring of the recurrent laryngeal nerves during thoracoscopic and robotic 3-field esophagectomy. Methods: This retrospective analysis details our initial experience using intraoperative nerve monitoring (IONM) during minimally invasive 3-field esophagectomy. Data were obtained from a prospectively maintained database and electronic medical records. The study included all patients who underwent minimally invasive (video-assisted thoracic surgery/robotic) transthoracic esophagectomy with neck anastomosis. The patients were divided into those who underwent IONM during the study period and a historical cohort who underwent 3-field esophagectomy without IONM at the same institution. Appropriate statistical tests were used to compare the 2 groups. Results: Twenty-four patients underwent nerve monitoring during minimally invasive 3-field esophagectomy. Of these, 15 patients underwent thoraco-laparoscopic operation, while 9 received a robot-assisted procedure. In the immediate postoperative period, 8 of 24 patients (33.3%) experienced vocal cord paralysis. Relative to a historical cohort from the same institution, who were treated with surgery without nerve monitoring in the preceding 5 years, a 26% reduction was observed in the nerve paralysis rate (p=0.08). On follow-up, 6 of the 8 patients with vocal cord paralysis reported a return to normal vocal function. Additionally, patients who underwent IONM exhibited a higher nodal yield and a decreased frequency of tracheostomy and bronchoscopy. Conclusion: The use of IONM during minimally invasive 3-field esophagectomy is safe and feasible. This technique has the potential to decrease the incidence of recurrent nerve palsy and increase nodal yield

A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family

Anencephaly (APH) is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to APH. APH shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of APH has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c. 1522C > A (p. Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive APH in an Indian family. The TRIM36 gene is expressed in the developing brain, suggesting a role in neurogenesis. In silico analysis showed that proline at codon position 508 is highly conserved in 26 vertebrate species, and the mutation is predicted to affect the conformation of the B30.2/SPRY domain of TRIM36. Both in vitro and in vivo results showed that the mutation renders the TRIM36 protein less stable. TRIM36 is known to associate with microtubules. Transient expression of the mutant TRIM36 in HeLa and LN229 cells resulted in microtubule disruption, disorganized spindles, loosely arranged chromosomes, multiple spindles, abnormal cytokinesis, reduced cell proliferation and increased apoptosis as compared with cells transfected with its wild-type counterpart. The siRNA knock down of TRIM36 in HeLa and LN229 cells also led to reduced cell proliferation and increased apoptosis. We suggest that microtubule disruption and disorganized spindles mediated by mutant TRIM36 affect neural cell proliferation during neural tube formation, leading to APH