Possible Familial Presentation in Two Siblings with Carotid Fibromuscular Dysplasia.

Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease which can affect the cervical, renal and visceral arteries. Here we report on two sisters diagnosed with carotid FMD at the same age, presenting with similar symptoms of pulsating tinnitus. The familial presentation of this rare disorder attracted our attention and was suggestive of a genetic etiology. Conservative treatment with aspirin was initiated. Carotid FMD is a rare disorder of which the exact pathophysiology is not known. A review of the literature on the clinical presentation, diagnosis and management is presented. In addition possible etiological factors and the genetic nature of the disease are discussed.

Possible familial presentation in two siblings with carotid fibromuscular dysplasia.

Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease which can affect the cervical, renal and visceral arteries. Here we report on two sisters diagnosed with carotid FMD at the same age, presenting with similar symptoms of pulsating tinnitus. The familial presentation of this rare disorder attracted our attention and was suggestive of a genetic etiology. Conservative treatment with aspirin was initiated. Carotid FMD is a rare disorder of which the exact pathophysiology is not known. A review of the literature on the clinical presentation, diagnosis and management is presented. In addition possible etiological factors and the genetic nature of the disease are discussed.

A painless neck swelling and von Recklinghausen.

BACKGROUND: Von Recklinghausen's disease, an autosomal dominant genetic disorder, may occasionally present with unusual localizations of neurofibromas. CLINICAL CASE: A 46-year old woman, known with Von Recklinghausen's disease, reported a swelling and a feeling of pressure and globus sensation. Clinical examination revealed multiple large nodi on the right side of the neck. Laboratory testing including thyroid-stimulating hormone (TSH) was normal. An MRI showed a 1 x 3 x 10 centimeter sausage-like structure compressing the right jugular vein. At surgical exploration a string-like tumour firmly attached to the right vagal and recurrent laryngeal nerve was found. The tumor and both nerves were macroscopically curative resected. Histopathological examination demonstrated a plexiform cervical vagus nerve neurofibroma without malignancy. CONCLUSION: Patients with Von Recklinghausen's disease presenting with painless neck swellings may harbour cranial nerve neurofibromas.

Fulminant ectopic Cushing's syndrome caused by metastatic small intestine neuroendocrine tumour - a case report and review of the literature.

Cushing's syndrome (CS) secondary to adrenocorticotropic hormone (ACTH) producing tumours is a severe condition with a challenging diagnosis. Ectopic ACTH-secretion often involves neuroendocrine tumours (NET) in the respiratory tract. ACTH-secreting small intestine neuro-endocrine tumours (siNET) are extremely rare entities barely reported in literature. This review is illustrated by the case of a 75-year old woman with fulminant ectopic CS caused by a ACTH-secreting metastatic siNET. Severe hypokalemia, fluid retention and refractory hypertension were the presenting symptoms. Basal and dynamic laboratory studies were diagnostic for ACTH-dependent CS. Extensive imaging studies of the pituitary and thorax-abdomen areas were normal, while [68Ga]Ga-DOTATATE PET-CT revealed increased small intestine uptake in the left iliac fossa. The hypercortisolism was well controlled with somatostatin analogues, after which a debulking resection of the tumour was performed. Pathological investigation confirmed a well-differentiated NET with sporadic ACTH immunostaining and post-operative treatment with somatostatin analogues was continued with favourable disease control.

Stent graft infection in the lower limb.

BACKGROUND: Poor wound healing can occur after limb amputation. CASE REPORT: We describe the case of a patient with a persistent fistula after below-knee amputation. The fistula is maintained due to an infected stent graft. After removal of the stent graft and adequate antibiotic treatment the wounds healed and extended amputation was avoided. CONCLUSION: The diagnosis of stent graft infection is challenging and requires aggressive treatment to prevent further amputation.

Evaluating the accuracy of three international guidelines in identifying the risk of malignancy in pancreatic cysts: a retrospective analysis of a surgical treated population.

BACKGROUND AND STUDY AIMS: The international consensus Fukuoka guideline (Fukuoka ICG), The European evidence-based guideline on pancreatic cystic neoplasms (European EBG) and the American Gastroenterological Association institute guideline on the diagnosis and management of asymptomatic neoplastic pancreatic cysts (AGA IG) are 3 frequently cited guidelines for the risk stratification of neoplastic pancreatic cysts. The aim of this study was to assess the accuracy of detecting malignant cysts by strictly applying these guidelines retrospectively to a cohort of surgically resected pancreatic cysts. PATIENTS AND METHODS: 72 resected cysts were included in the analysis. Invasive carcinoma, high grade dysplasia and neuro-endocrine tumour were considered as "malignant cysts" for the purpose of the study. RESULTS: 32% of the resected cysts were malignant. The analysis showed that the Fukuoka ICG, European EBG and AGA IG had a sensitivity of 66,8%, 95,5%, 80%; a specificity of 26,8%, 11,3%, 43,8%; a positive predictive value of 31,8%, 35%, 47,1% and a negative predicted value of 61,1%, 83,3%, 77,8% respectively. The missed malignancy rate was respectively 11,3%, 1,5%, 7,7% and surgical overtreatment was respectively 48,4%, 59,1%, 34,6%. CONCLUSION: In this retrospective analysis, the European EBG had the lowest rate of missed malignancy at the expense of a high number of "unnecessary" resections. The Fukuoka ICG had the highest number of missed malignancy. The AGA IG showed the lowest rate of unnecessary surgery at the cost of a high number of missed malignancy. There is need to develop better biomarkers to predict the risk of malignancy.

Novel tumor suppressor locus in human chromosome region 3p14.2.

BACKGROUND: Alterations of chromosome region 3p14 are observed in numerous human malignancies. Because the pattern of allelic losses suggests the existence of at least one tumor suppressor gene within this region, we established a library of yeast artificial chromosomes (YACs) containing contiguous human 3p14 sequences to permit a search for tumor suppressor loci within the 3p14 region by use of functional complementation. METHODS: YACs specific for human chromosome region 3p14 were transduced by spheroplast fusion into cells of the human nonpapillary renal carcinoma cell line RCC-1, which shows a cytogenetically detectable 3p deletion and is tumorigenic in nude mice. RESULTS: We identified a 3p14.2-specific YAC clone, located in the vicinity of the fragile histidine triad (FHIT) gene (but toward the telomere), that is capable of inducing sustained suppression of tumorigenicity in nude mice and of activating cellular senescence in vitro. Among 23 mice given injections of RCC-1 cells containing this YAC, 16 (70%) remained tumor free for at least 6 months, whereas tumor formation occurred after a median of 6 weeks in control mice given injections of either RCC-1 parental cells or a revertant cell line (in which the YAC had lost all human sequences) or RCC-1 parental cells containing other, unrelated YACs. Similar results were obtained following microcell-mediated transfer of the entire human chromosome 3. CONCLUSION: These data provide strong evidence for the existence of a novel tumor suppressor locus adjacent to the previously identified candidate tumor suppressor gene, FHIT, in 3p14.2. Positional cloning of the novel suppressor element within the 3p14.2-specific YAC and the sequence's molecular and functional characterization should add to the understanding of the pathogenesis of renal cell carcinoma and other human tumors that exhibit 3p14 aberrations.

Gastric outlet obstruction by a donor aortic tube after en bloc liver pancreas transplantation: a case report.

We present the case of a 30-year-old female suffering from a type five maturity onset diabetes of the young deficiency, resulting in type 1 diabetes and terminal renal insufficiency. She also had chronic and refractory pruritis due to primary sclerosing cholangitis-like fibrosis. She underwent combined en bloc liver and pancreas transplantation and kidney transplantation. The postoperative course was complicated by a gastric outlet obstruction due to compression of the native gastroduodenal junction by the donor aortic tube. This was treated by construction of a roux-en-Y gastrojejunostomy at posttransplant day 24. To our knowledge, compression of the gastroduodenal junction by a donor aortic tube after combined liver and pancreas (or multivisceral) transplantation has not been reported previously.

Sequence characterization of an unusual lysozyme gene expressed in the intestinal tract of the reduviid bug Triatoma infestans (Insecta).

Antibacterial proteins like lysozyme are important components of the insect non-specific immune response against bacteria. The complementary deoxyribonucleic acid (cDNA) encoding a new lysozyme from Triatoma infestans, named lysozyme2, has been amplified by polymerase chain reaction and the rapid amplification of cDNA ends technique. The gene is expressed in the small intestine of the insect. The deduced protein sequence shows up to 70% similarity to lysozymes from other species. Furthermore, the protein exhibits significant structural concordance to other insect lysozymes. A striking feature of the lysozyme2 protein is the replacement of the conserved amino acid residues of the active site of classical c-type lysozymes, glutamate and aspartate, by valine and tyrosine.