The Y-chromosome, as with other chromosomes in the cell, is subject to mutations. However, unlike autosomal genes, the Y chromosome does not undergo recombination, and therefore individuals from different geographical regions may have differing distribution patterns with respect to Y-chromosome mutations. More detailed knowledge and information regarding Y-chromosome mutations might therefore provide insights into phylogenetic history and personal identification. Here, we describe a case study involving genotype-phenotype discrepancy in an Indian male individual. We found that the mistyping in sex determination was caused by a deletion in the amelogenin Y (AMEL Y) gene. Furthermore, on examining the short tandem repeat (Y-STR) loci using the PowerPlex(R) Y23 System, we found four more deleted loci on Yp11.2 (DYS576, DYS481, DYS570, and DYS458) in this sample. We performed deletion mapping for this sample, and we propose that the microdeletion on the Yp11.2 locus occurred approximately in the 6.44 Mb to 9.75 Mb region. Previous studies have reported that the AMEL Y deletion is a common mutation in the Indian population. Taking into account regional differences, we also analyzed several area-specific Y-chromosome mutations.
Amelogenin ; DNA* ; Humans ; Male ; Microsatellite Repeats ; Recombination, Genetic ; Y Chromosome*

Rectal neuroendocrine tumors (NETs) are not uncommon. Recently, the incidence of rectal NETs has increased markedly due to the widespread use of screening colonoscopy. Most rectal NETs detected incidentally are asymptomatic and at an early stage at diagnosis. Typical NETs < 10 mm in size and confined to the submucosal layer can be resected completely using various endoscopic treatments. These NETs have a good prognosis. However, not all NETs necessarily have good prognoses; those > 10 mm in size, with ulceration or depression, muscularis invasion seen on endoscopic ultrasonography (EUS), lymphovascular invasion, or a high mitotic index histologically are associated with metastasis. Generally, NETs < 10 mm can be treated endoscopically, while those > 20 mm should be resected surgically. The treatment of NETs between 10 and 20 mm is controversial. For these, it is necessary to choose an effective, safe primary resection method to ensure complete resection and to perform a careful histological examination of the resected tissue.
Colonoscopy ; Depression ; Diagnosis* ; Endosonography ; Incidence ; Mass Screening ; Mitotic Index ; Neoplasm Metastasis ; Neuroendocrine Tumors* ; Prognosis ; Rectum ; Ulcer

No abstract available.
Bulimia* ; Gastric Dilatation* ; Ischemia* ; Portal Vein*

Malakoplakia is a rare granulomatous disease that occurs commonly in the urinary tract and secondarily in the gastrointestinal tract. Most reported cases of malakoplakia are associated with immunosuppressive diseases or chronic prolonged illness. Here, we report a rare case of malakoplakia in a young healthy adolescent without any underlying disease. A 19-year-old female was referred to our hospital following the discovery of multiple rectal polyps with sigmoidoscopy. She had no specific past medical history but complained of recurrent abdominal pain and diarrhea for 3 months. A colonoscopy revealed diverse mucosal lesions including plaques, polyps, nodules, and mass-like lesions. Histological examination revealed a sheet of histiocytes with pathognomonic Michaelis-Gutmann bodies. We treated the patient with ciprofloxacin, the cholinergic agonist bethanechol, and a multivitamin for 6 months. A follow-up colonoscopy revealed that her condition was resolved with this course of treatment.
Anti-Bacterial Agents/therapeutic use ; Bethanechol/therapeutic use ; Biopsy ; Ciprofloxacin/therapeutic use ; *Colon/drug effects/pathology ; *Colonic Diseases/diagnosis/therapy ; Colonoscopy ; Drug Therapy, Combination ; Female ; Humans ; *Intestinal Mucosa/drug effects/pathology ; *Malacoplakia/diagnosis/therapy ; Muscarinic Agonists/therapeutic use ; Treatment Outcome ; Vitamins/therapeutic use ; Young Adult

Adenocarcinoma is the most common pathologic diagnosis, representing >95% of colorectal cancers; mucinous adenocarcinoma (MA) accounts for 10-15% and SRC accounts for 0.1-2.4% of colorectal cancers. MA is defined as a tumor with > or =50% mucin. Patients with MAs have a poor prognosis, a higher proportion of peritoneal metastases, and present at a more advanced stage of disease. Linitis plastica involving the colon and rectum is usually a metastatic lesion from gastric cancer and other organs, such as the prostate, gallbladder, and breast. Primary linitis plastica of the colon is very rare. We managed a case of colon cancer occurring in a 19-year-old female with a histologic diagnosis of mucinous adenocarcinoma and morphologic features of linitis plastica. Herein we report a rare case of primary linitis plastica of the colon with a review of the literature.
Adenocarcinoma ; Adenocarcinoma, Mucinous ; Breast ; Colon ; Colonic Neoplasms ; Colorectal Neoplasms ; Female ; Gallbladder ; Humans ; Linitis Plastica ; Mucins ; Neoplasm Metastasis ; Prognosis ; Prostate ; Rectum ; Stomach Neoplasms ; Young Adult

Adenocarcinoma is the most common pathologic diagnosis, representing >95% of colorectal cancers; mucinous adenocarcinoma (MA) accounts for 10-15% and SRC accounts for 0.1-2.4% of colorectal cancers. MA is defined as a tumor with > or =50% mucin. Patients with MAs have a poor prognosis, a higher proportion of peritoneal metastases, and present at a more advanced stage of disease. Linitis plastica involving the colon and rectum is usually a metastatic lesion from gastric cancer and other organs, such as the prostate, gallbladder, and breast. Primary linitis plastica of the colon is very rare. We managed a case of colon cancer occurring in a 19-year-old female with a histologic diagnosis of mucinous adenocarcinoma and morphologic features of linitis plastica. Herein we report a rare case of primary linitis plastica of the colon with a review of the literature.
Adenocarcinoma ; Adenocarcinoma, Mucinous ; Breast ; Colon ; Colonic Neoplasms ; Colorectal Neoplasms ; Female ; Gallbladder ; Humans ; Linitis Plastica ; Mucins ; Neoplasm Metastasis ; Prognosis ; Prostate ; Rectum ; Stomach Neoplasms ; Young Adult

BACKGROUND: CHROMagar Candida is a new differential medium that allows selective isolation and identification of clinically significant yeasts. We evaluated the use of this medium to identify Candida species directly from positive blood culture bottles. METHODS: A total of 152 positive blood culture bottles (51 Candida albicans, 29 Candida troficalis, 28 Candida parapsilosis, 26 Candida glabrata, 10 Candida krusei, 4 Candida pelliculosa. 1 Candida guilliermonidii, 3 C. albicans plus C. glabrata) were directly subcultures to CHROMagar (Hardy diagnostics. USA) and incubated for 48 h. Colony appearance on CHROMagar was assessed independently by three observers. RESULTS: CHROMagar correctly identified 95.4%, 92 1% and 91.4% of Candida app. from blood cultures by the three observers. respectively. There was 91.4% agree cent between the observers. Expected colony appearance on CHROMagar was 100% for C. albicans. 97.7% for C. tropicalis, 96.7% for C. krusei, 94 9% for C. glabrata but 88.1% for C. parapsilosis. Three mixed candidemias, not detected by conventional methods, were detected by CHROMagar. CONCLUSIONS: CHROMagar permits earlier recognition of major Cardida app. in positive blood cultures and more reliable detection of mixed candidemias.
Candida albicans ; Candida glabrata ; Candida* ; Candidemia ; Yeasts

A 54-year-old man presented with constipation with a six-month duration and a 5 kg weight loss over 10 months. He had undergone a subtotal gastrectomy and chemotherapy for advanced gastric cancer 13 years earlier. A colonoscopy revealed a firm, circular, in-growing mass in the rectum. A computed tomography (CT) scan showed a 3.0×1.2 cm invasive mass near the prostate, abutting the rectal wall and invading the right ureterovesical junction, causing hydroureteronephrosis. A positron emission tomography-CT scan indicated low fluorodeoxyglucose uptake in the rectal or prostate area. The biopsy results showed poorly differentiated carcinoma. An immunohistochemistry study confirmed CK7 positive, CK20 negative, MUC2 negative, and CDX2 focally positive immune phenotype for cancer cells, suggesting a diagnosis of metastatic adenocarcinoma with a gastric origin rather than a prostate and rectal origin.

A 54-year-old man presented with constipation with a six-month duration and a 5 kg weight loss over 10 months. He had undergone a subtotal gastrectomy and chemotherapy for advanced gastric cancer 13 years earlier. A colonoscopy revealed a firm, circular, in-growing mass in the rectum. A computed tomography (CT) scan showed a 3.0×1.2 cm invasive mass near the prostate, abutting the rectal wall and invading the right ureterovesical junction, causing hydroureteronephrosis. A positron emission tomography-CT scan indicated low fluorodeoxyglucose uptake in the rectal or prostate area. The biopsy results showed poorly differentiated carcinoma. An immunohistochemistry study confirmed CK7 positive, CK20 negative, MUC2 negative, and CDX2 focally positive immune phenotype for cancer cells, suggesting a diagnosis of metastatic adenocarcinoma with a gastric origin rather than a prostate and rectal origin.