A case of spontaneous resolution of a scrotal ventriculoperitoneal shunt migration

Ventriculoperitoneal (VP) shunt catheter migration remains a rare but documented complication seen in one in 1000 patients who receive a VP shunt. Migration of the VP shunt into the scrotum is even more uncommon and requires surgical treatment. We report a unique case of a 6-month-old preterm male who developed right scrotal migration of his VP shunt. However, the tip of the VP shunt spontaneously reduced to its normal position, and repeated imaging months later showed no recurrence.     

Genetic variants in transient receptor potential cation channel, subfamily M 1 (TRPM1) and their risk of albuminuria-related traits in Mexican Americans

BackgroundEvidence for linkage of albuminuria to GABRB3 marker region on chromosome 15q12 was previously reported in Mexican Americans. The objective of this study is to scan a positional candidate gene, Transient Receptor Potential cation channel, subfamily M 1 (TRPM1), for genetic variants that may contribute to the variation in albumin-to-creatinine ratio (ACR).MethodsTo identify the sequence variants, the exons and 2 kb putative promoter region of TRPM1 were PCR amplified and sequenced in 32 selected individuals. Identified variants were genotyped in the entire data set (N = 670; 39 large families) by TaqMan assays. Association analyses between the sequence variants and ACR, type 2 diabetes (T2DM) and related phenotypes were carried out using a measured genotype approach as implemented in the program SOLAR.ResultsSequencing analysis identified 18 single nucleotide polymorphisms (SNPs) including 8 SNPs in the coding regions, 7 SNPs in the promoter region and 3 SNPs in introns. Of the 8 SNPs identified in the coding regions, 3 were non synonymous [Met(1)Thr, Ser(32)Asn, Val(1395)Ile] and one SNP caused stop codon (Glu1375/*). Of the SNPs examined, none of them exhibited statistically significant association with ACR after accounting for the effect of age, sex, diabetes, duration of diabetes, systolic blood pressure and anti-hypertensive medications. However, a SNP (rs11070811) located in the putative promoter region showed a modest association with triglycerides levels (P = 0.039).ConclusionThe present investigation found no evidence for an association between sequence variation at the TRPM1 gene and ACR in Mexican Americans, although it appears to have modest influence on T2DM risk factors.     

Quality of Life in the Trastuzumab for Gastric Cancer Trial

Background.

The Trastuzumab for Gastric Cancer phase III trial demonstrated that combining trastuzumab with chemotherapy significantly improved overall survival compared with chemotherapy alone in HER2-positive advanced gastric or gastroesophageal junction cancer. We report health-related quality of life (HRQoL) and quality-adjusted time without symptoms of disease or toxicity (Q-TWiST) results from this trial.

Patients and Methods.

Patients were randomized to receive six cycles of chemotherapy given every 3 weeks (capecitabine or fluorouracil, plus cisplatin) either alone or combined with administration of trastuzumab every 3 weeks until disease progression. At each clinical visit, HRQoL was assessed using two European Organization for Research and Treatment of Cancer quality of life questionnaires, QLQ-C30 and QLQ-STO22. Q-TWiST methodology was applied retrospectively using the clinical data and utility coefficients.

Results.

Trastuzumab plus chemotherapy prolonged time to 10% definitive deterioration in all QLQ-C30 and QLQ-STO22 scores, including QLQ-C30 global health status versus chemotherapy alone, from 6.4 months to 10.2 months. In addition, trastuzumab plus chemotherapy extended Q-TWiST by 2.42 months compared with chemotherapy alone.

Conclusion.

Compared with chemotherapy alone, trastuzumab plus chemotherapy prolongs time to deterioration of HRQoL and increases quality-adjusted survival in patients with HER2-positive gastric or gastroesophageal junction cancer.     

Microsurgical infrapedicular paramedian approach for retrovertebral lumbar disc herniations. Technical note

The author performed a microsurgical infrapedicular paramedian approach in 35 patients (23 men and 12 women) to remove herniated lumbar retrovertebral discs that did not have an apparent origin at either the superior or inferior disc level. The goal of this surgery was to minimize the bone resection, preserve the facet joint, and avoid the risk of secondary vertebral instability. The Macnab outcome classification was used to assess all patients who attended follow-up examination for at least 15 months. The clinical results were excellent or good in 34 (97%) of 35 cases. This minimally invasive lumbar spine technique resulted in minimal morbidity, excellent clinical benefits, and a long-term outcome without evidence of secondary segmental instability.     

Genetic basis of diabetic nephropathy

Diabetes mellitus is the leading cause of end-stage renal disease. Development and progression of diabetic nephropathy result from a combination of genetic susceptibility and metabolic and hemodynamic abnormalities. In America, some racial and ethnic minorities have a significant burden of diabetic nephropathy, and, although genetic studies suggest that inherited factors play a major role in the pathogenesis of diabetic nephropathy, little information has been gained on the genes and molecular mechanisms involved. The genetic background of diabetic nephropathy is believed to be polygenic, and the genes predisposing to the development and progression of diabetic nephropathy are actively being investigated. New knowledge in identifying and understanding the role of susceptibility gene(s) will provide valuable information that could help develop new preventive and therapeutic strategies.     

Frameless image-guided neuronavigation in orbital surgery: practical applications

Frameless neuronavigation has been increasingly used in intracranial and spinal neurosurgery. However, the application of neuronavigation in orbital surgery has not yet been reported. The purpose of this study was to evaluate whether frameless navigation in the orbit provides sufficient clinical application accuracy and thus a useful tool in orbital surgery. A frameless infrared-based neuronavigation system (VectorVision, BrainLAB, Heimstetten, Germany) was used in the microsurgical removal of 11 orbital tumors (five cavernomas, three lymphomas, two dermoid tumors, and one rhabdomyosarcoma). The transconjunctival approach was performed in seven cases, lateral orbitotomy in three cases, and the extradural pterional approach was performed in one case. The surgery was successful and without any complications in all cases. The registration accuracy of the neuronavigation was between 1.8 and 2.2 mm, with a mean of 1.9 mm. Subtotal tumor debulking was performed in one case with lymphoma. One patient was only biopsied due to suspected systemic lymphoma disease. Total removal of the tumor could be accomplished in the other nine patients. Image guidance during orbital surgery offered excellent three-dimensional guidance on the surface of the intraorbital lesions, allowing a safer, more controlled surgery. The surgical targets in the orbit are fixed structures, thus no shifting occurs and continuous high intraoperative navigation accuracy can be achieved. The use of the navigation clearly reduces the operative risk and increases the effectiveness of microsurgical orbital procedures.