A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred: A family-based study.

OBJECTIVE: In the Netherlands, the majority of hereditary head and neck paragangliomas (HNPGL) are caused by germline variants in the succinate dehydrogenase genes (SDHD, SDHB, SDHAF2). Here, we evaluate a four-generation family linked to a novel SDHB gene variant with the manifestation of a HNPGL. DESIGN: A family-based study. SETTING: The VU University Medical Center (VUmc) Amsterdam, a tertiary clinic for Otolaryngology and Head and Neck Surgery. PARTICIPANTS AND MAIN OUTCOME MEASURES: The index patients presented with an embryonic rhabdomyosarcoma and a non-Hodgkin lymphoma. Array-based comparative genomic hybridisation (aCGH) analysis and multiplex ligation-dependent probe amplification (MLPA) revealed a novel deletion of exon 1-3 in the SDHB gene, suspected to predispose to paraganglioma (PGL)/pheochromocytoma (PHEO) syndrome type 4. Subsequently, genetic counselling and DNA testing were offered to all family members at risk. Individuals that tested positive for this novel SDHB gene variant were counselled and additional clinical evaluation was offered for the identification of HNPGL and/or PHEO. RESULTS: The DNA of 18 family members was tested, resulting in the identification of 10 carriers of the exon 1-3 deletion in the SDHB gene. One carrier was diagnosed with a carotid body PGL and serum catecholamine excess, which was surgically excised. Negative SDHB immunostaining of the carotid body tumour confirmed that it was caused by the SDHB variant. The remaining 9 carriers showed no evidence of PGL/PHEO. CONCLUSION: Deletion of exon 1-3 in the SDHB gene is a novel germline variant associated with the formation of hereditary HNPGL.

Breast MRI in clinically and mammographically occult breast cancer presenting with an axillary metastasis: a systematic review.

BACKGROUND: Axillary metastatic lymphadenopathy with no primary tumour identified in the breast on physical examination, mammography or ultrasound is referred to as occult breast cancer. The goal of this systematic review is to give an overview of the value and additional considerations of using breast MRI in occult breast cancer. METHODS: The databases of Pubmed, Embase, CINAHL and the Cochrane library were searched for studies addressing the use of breast MRI in occult breast cancer. Cross-referencing was used to find additional articles. RESULTS: 8 retrospective studies were included. Breast MRI can detect an otherwise occult breast cancer in more than two thirds of patients with a high sensitivity but lower specificity. In 80% of patients MRI detected lesions could be localized again by using ultrasound. Furthermore the size and localization of the lesions found on MRI most often correlated closely with findings at pathology. Breast MRI also provided the possibility of breast conserving surgery in one thirds of patients. CONCLUSION: Breast MRI can result in additional detection of otherwise occult lesions in occult breast cancer. Because of low specificity of malignant lesion detection by breast MRI, lesions should be histologically confirmed. This can be achieved either by MRI or ultrasound guided biopsy, as long as all MRI detected lesions are histologically checked. Routine application of breast MRI in occult breast cancer may also alter locoregional treatment by offering the possibility of breast conserving surgery in one thirds of patients.

Do surgical distal bypasses still play a role in the treatment of critical limb ischemia?

AIM: The treatment of critical limb ischemia is at present very controversial. In fact surgery using different grafts (venous or prosthetic) is in competition with percutaneous angioplasty. Progresses of endoluminal techniques brought certain authors to think that angioplasty is now the first treatment of critical limb ischemia. The aim of the study hereby is to compare our results of distal venous bypasses to the results obtained in literature with venous or other grafts and to those of the percutaneous angioplasty. MATERIAL AND METHOD: In this retrospective study of 113 operated cases between January 2003 and December 2006 by four surgeons, 21 cases are excluded considering the lack of data. Among the remaining 92 cases, the average age is 68.1 years. Men represent 79.4%. Comorbidities include: COPD 55.4%, coronary artery disease 60.9%, diabetes 44.6%, dyslipidemia 66.3% and dialysis 9.8%. Surgical revision was necessary in 29.4%. There were 30.4% stage III limb ischemia and 62% stage IV. Acute ischemia was present in 7.6% of patients. The proximal anastomosis of the bypass is femoral except for 13 cases. The outflow artery is always sural or even more distal. RESULTS: Perioperative mortality is of 2.2% (two cases). The average follow up was of 26.2 months (0.16-64). Eleven patients required subsequent amputation. The primary patency at 1, 3 and 5 years was respectively of 82.1%, 70.6% and 55.9% while limb salvage was respectively of 87.4%, 85.9% and 85.9% at the same intervals. CONCLUSION: Comparing our results to those of the literature for venous or prosthetic bypasses and distal angioplasties, we remain convinced of the high efficiency, on the long run, of infra-popliteal venous bypass grafts. Meanwhile, recent data on distal angioplasties are promising and in constant progress.

[Current treatment of primary and secondary pneumothorax]. / Traitement actuel du pneumothorax primaire et secondaire.

INTRODUCTION: The treatment of a primary or secondary spontaneous pneumothorax remains controversial and many therapeutic options exist. In the event of a first episode of pneumothorax, should the patient be treated by observation, aspiration or thoracic drainage? For patients undergoing a thoracoscopic intervention for a spontaneous pneumothorax which is the best technique to treat the lung and parietal pleura? What are the results of thoracoscopy compared to thoracotomy and are the costs comparable? PERSPECTIVES: The optimal treatment for a first episode of pneumothorax remains to be determined. As there are only a limited number of patients in the published randomised controlled studies only grade B or C recommendations can be given. This is also true for the treatment of the lung and parietal pleura during a thoracoscopic intervention. Most authors advise that an apical pleurectomy is performed. With regard to results and cost of thoracoscopy compared to thoracotomy, conflicting results have been published and definite conclusions cannot be drawn. CONCLUSION: As large randomised prospective studies are not available regarding the treatment of pneumothorax only grade B or C recommendations can be given.

Long-term results after video-assisted thoracic surgery for spontaneous pneumothorax.

OBJECTIVE: Analysis of the long-term results of video-assisted thoracic surgery (VATS) for spontaneous pneumothorax in patients treated in two surgical centres from May 1994 until December 2000. METHODS: A cohort of 86 patients was studied retrospectively. For final analysis, 74 patients undergoing 76 VATS procedures were included. RESULTS: Sixty-three procedures for primary spontaneous pneumothorax (PSP) and 13 procedures for secondary spontaneous pneumothorax (SSP) were performed. In 78.9% (n = 60) blebs or bullae were resected with an endostapler device. In 2.6% (n = 2) an apical fibrotic zone was resected. In 71.1% (n = 54) a subtotal pleurectomy was performed combined with an abrasion in 41 cases. In 21.1% (n = 16) a total pleurectomy and in 7.8% (n = 6) an abrasion was performed. Operative mortality was 1.3% (n = 1) and total operative morbidity 25.4% in the PSP group and 76.9% in the SSP group. Mean follow-up was 36 months. The global recurrence rate was 5.3% (n = 4), being 4.8% (n = 3) in the PSP group and 7.7% (n = 1) in the SSP group. Recurrences occurred at 1 (n = 2), 2 (n = 1) and 16 (n = 1) months after the initial operation. The incidence of postoperative neuralgia was 17.1% (n = 13). One patient needed analgesics for the neuralgia. CONCLUSION: VATS treatment of spontaneous pneumothorax proves to be effective. In cases of SSP, VATS treatment is feasible but a higher morbidity rate should be anticipated.