نتایج جستجو برای: familial polyposis coli
تعداد نتایج: 208445 فیلتر نتایج به سال:
We introduce a 32-year-old man who was evaluated for a dizziness and headache of unknown origin for at least two months and was referred to our center after ECG findings. He was finally diagnosed as a case of idiopathic, familial, diffuse, persistent atrial standstill, which is a rare arrhythmogenic condition characterized by the absence of electrical and mechanical activity in the atria. He su...
objectives: familial adenomatous polyposis (fap) is an autosomal dominant predisposition to colon cancer. this hereditary genetic disease is characterized by more than 100 adenomatous polyps in colon and rectum. additional features may include desmoids tumors, polyps in the upper gastrointestinal tract, osteomas and congenital hypertrophy of the retinal pigment epithelium (chrpe). a mutation in...
We describe 2 extended kindreds supposedly manifesting familial multiple adenomatous polyposis coli (FPC), but which show marked heterogeneity in the phenotypic expression of colorectal adenomatous polyps. In one family, 2 individuals had diffuse polyposis at very early ages (7 and 10 years), while 6 others (aged 23 to 72 years) had solitary polyps only. Of the patients with solitary polyps, 2 ...
Progress toward the understanding and management of human colon cancer can be significantly advanced if appropriate experimental platforms become available. We have investigated whether a rat model carrying a knockout allele in the gatekeeper gene Adenomatous polyposis coli (Apc) recapitulates familial colon cancer of the human more closely than existing murine models. We have established a mut...
A 20-year-old woman presented for a routine eye examination. Her best-corrected visual acuity was 20/20 in the right eye and 20/25 in the left eye. Fundus examination revealed in both eyes the presence of multiple egg-shaped hyperpigmented retinal lesions (at least 4), sur-rounded by a depigmented halo(figure 1, black arrows). The appearance of these lesions was suggestive of congenital hypertr...
INTRODUCTION Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, a...
INTRODUCTION Desmoid tumors (also called aggressive fibromatosis) are histologically benign, but have a strong tendency to recur locally after resection. They are rare neoplastic tumors that may occur sporadically or in association with familial adenomatous polyposis caused by a germline mutation in the adenomatous polyposis coli gene. The etiology of desmoid tumors is unknown, but their associ...
Germline mutations in DNA polymerase ɛ (POLE) and δ (POLD1) have been recently identified in families with multiple colorectal adenomas and colorectal cancer (CRC). All reported cases carried POLE c.1270C>G (p.Leu424Val) or POLD1 c.1433G>A (p.Ser478Asn) mutations. Due to the scarcity of cases reported so far, an accurate clinical phenotype has not been defined. We aimed to assess the prevalence...
Umbilicated adenomas in familial polyposis coli: radiologic and histologic correlation (case report)
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