نتایج جستجو برای: von hippel
تعداد نتایج: 96670 فیلتر نتایج به سال:
This paper summarizes the views of author on new book ’The Chemical Age. How Chemists Fought Famine and Disease, Killed Millions, Changed Our Relationship with Earth’ by Frank A. von Hippel.
We describe five patients diagnosed with von Hippel-Lindau disease who complained of abdominal distension, pain and discomfort for a long time. All patients underwent ultrasonography, CT scan and MRI, which showed huge pancreas filled with multiple cysts. Additionally, extrapancreatic findings such as cerebellar hemangioblastoma (3 patients), retinal hemangioblastoma (2), renal cell carcinoma (...
A 25-year-old male patient presented with a one-month history of progressive right visual loss. Magnetic resonance imaging showed 20x18 mm cystic lesion which has a mural nodule component with contrast and arisen from optic chiasm, optic nerve and optic tract. Right frontotemporal craniotomy was performed and tumor was totally resected. The histological diagnosis was hemangioblastoma. The patie...
CONTEXT Von Hippel-Lindau disease is an inherited syndrome of multiorgan neoplasia caused by a germline mutation in the von Hippel-Lindau gene and can include central nervous system tumors, renal cell carcinomas and benign pancreatic cystic tumors. CASE REPORT We report the case of a 56-year-old patient who had a past history of cerebellar hemangioblastoma and presented with abdominal pain. I...
CONTEXT Von Hippel-Lindau disease is a genetic disorder characterized by neoplasms with multiple organ involvement, the pancreas being involved in about half of the cases. Conservative treatment is indicated because the disease is usually asymptomatic with long-term follow-up. CASE REPORT We herein present the case of a 64-year-old man with von Hippel-Lindau disease who presented with obstruc...
A germline mutation in the Von-Hippel Lindau (VHL) gene predisposes carriers to development of abundantly vascularised tumours in the retina, cerebellum, spine, kidney, adrenal gland and pancreas. Most VHL patients die from the consequences of cerebellar haemangioblastoma or renal cell carcinoma. The VHL gene is a tumour suppressor gene and is involved in angiogenesis by regulation of the activ...
In recent years advances have been made in the clinical and genetic aspects of von Hippel-Lindau disease (VHL). Retinal capillary hemangioma is the most common manifestation of VHL disease and, therefore, ophthalmologists are frequently involved in the care of patients with this disease. The incidence of VHL disease is approximately 1 in 40,000 live births. It is estimated that there are approx...
Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We report a case of sporadic hemangioblastoma in a patient without von Hippel-Lindau Disease. Imaging characteristics included a solid, suprasellar mass that was homogeneously enhancing. These findings most resembled a pituicytoma or...
LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...
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