Obese/diabetic mothers present a higher risk to develop offspring with myelomeningocele (MM), evidence supporting the role of energy homeostasis-related genes in neural tube defects. Using polymerase chain reaction-restriction fragment length polymorphism, we have genotyped SLC2A1, HK1, and LEPR single-nucleotide polymorphisms in 105 Chilean patients with MM and their parents in order to evaluate allele-phenotype associations by means of allele/haplotype transmission test (TDT) and parent-of-origin effects. We detected an undertransmission for the SLC2A1 haplotype T-A (rs710218-rs2229682; P = .040), which was not significant when only lower MM (90% of the cases) was analyzed. In addition, the leptin receptor rs1137100 G allele showed a significant increase in the risk of MM for maternal-derived alleles in the whole sample (2.43-fold; P = .038) and in lower MM (3.20-fold; P = .014). Our results support the role of genes involved in energy homeostasis in the risk of developing MM, thus sustaining the hypothesis of diverse pathways and genetic mechanisms acting in the expression of such birth defect.

Marshall-Smith Syndrome (OMIM 602535) was described initially by Marshall in two infants with a syndrome characterized by accelerated skeletal maturation, failure to thrive, and dysmorphic facial features. We report a new patient with clinical features of Marshall-Smith syndrome with additional findings such as hyperpigmented lines on trunk and the four extremities. © 2011 Wiley-Liss, Inc.

Objectives: The aim of this paper is to establish a correct approach to the diagnosis of a primary malignant melanoma of the parotid gland. Methods: We present a case of a patient with a painless mass situated in the left parotid region after an initial cytological and radiological study suggesting a Warthin tumor whose treatment involved a total parotidectomy with a facial nerve reconstruction. Results: The histopathological result showed a malignant melanoma that after various studies and evaluations showed no other primary origin different from the parotid gland itself. Conclusions: Salivary gland melanomas are relatively rare entities that when being of a primary origin and localized in the parotid gland become even more uncommon. Upon a melanoma found in the parotid gland, the first suspicion should be a metastatic origin, being the most common sites the oral cavity and the skin from the head and neck region.

Objectives 1) To evaluate our results and complications after partial parotidectomy vs. superficial parotidectomy, as primary treatment of benign parotid tumors. 2) To present an evidence-based review on partial parotidectomy as the method of choice of treatment of benign parotid tumors. Methods A case-control study is presented on parotidec-tomy, comparing a group of 25 patients treated by partial parotidectomy vs. a similar group of 25 patients treated by superficial parotidectomy. All patients had primary benign parotid tumors, were matched by sex and age, and had a minimum follow-up of 12 months in a university hospital. Independent variables included sex, age, medical history, intraoperative variables (surgical time, estimated blood loss, type of drainage, use of collagen), fine-needle aspiration, CT findings, and final histopathological diagnosis. Outcome measures were early and late complications, such as facial nerve paralysis, seroma, sialocele, Frey syndrome, and recurrence. Comparison of both groups was done by Chi-squared and non-parametric analysis, after a .05 significance level, and multivariate regression analysis. Results Partial parotidectomy resulted in less early and late complications than superficial parotidectomy, with similar recurrence rates. Facial paresis was found in 24% of partial surgeries, vs. 36% of superficial ones (a significant difference); 3 months after surgery, only 1 patient has a persistent marginal nerve paresis. By contrast, only seroma was more common after partial parotidectomy (28% vs 16%). Conclusions Partial parotidectomy achieves less early and late complications than superficial parotidectomy, with similar recurrence rates.