Biomedical subjects
Publications and source records attributed to T Coskun.
Two patients with biotinidase deficiency had diagnoses of infantile spasms made at 1 month of age. Biotinidase deficiency may be seen early in the neonatal period without the characteristic findings such as alopecia and seborrheic dermatitis. This diagnosis should be considered in patients with infantile spasms.
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Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in cultured skin fibroblasts showed abnormalities on Western blotting with anti-pyruvate dehydrogenase complex antiserum which were not located in the E1 (alpha and beta) component of the complex. One of these patients had an enzymatically demonstrable deficiency in the E2 dihydrolipoyl transacetylase segment of the complex and very low observable E2 protein component on Western blotting of fibroblast proteins. The other two patients had abnormalities observable in the X component but no observable reduction in either E1, E2, or E3 enzymatic activities. One patient appeared to have a missing X component while the other had two distinct bands where X should be on Western blotting of fibroblast proteins. All three patients appeared to have severe clinical sequelae resulting from these defects. This is the first time that defects in either the E2 or the X component of the pyruvate dehydrogenase complex have been observed in the human population.
Thirty-nine Turkish phenylketonuria (PKU) families were investigated for their DNA haplotypes at the phenylalanine hydroxylase (PAH) locus. There was a threefold higher incidence of consanguinity in the population studied compared with the general Turkish population. The PAH DNA haplotype 6 was found to be almost exclusively associated not only with the mutant PAH genes but also with the classic phenotype in 39% of the Turkish patients. This haplotype was of not importance in northern European populations. The two DNA haplotypes (1 and 4) that were almost equally frequent among the normal and the mutant PAH genes in northern European populations show virtually the same distribution in Turkish individuals. In all populations studied, these haplotypes are associated with different phenotypes.
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Biotinidase deficiency is an autosomal recessive defect in the recycling of biotin that can lead to a variety of neurologic and cutaneous symptoms. The disease can be prevented or effectively treated with exogenous biotin. The biotinidase locus (BTD) has been maped to 3p25 by in situ hybridization. The gene has been cloned, the coding region sequenced, the genomic organization determined, and a spectrum of mutations has been characterized in more than 90 individuals with profound or partial biotinidase deficiency. We have conducted haplotype analysis of 10 consanguineous and 39 nonconsanguineous probands from the United States and 8 consanguineous probands from Turkey to localize BTD with respect to polymorphic markers on 3p and to investigate the origins of five common mutations. The inbred probands were homozygous for overlapping regions of 3p ranging in size from 1.1 to 80 cM which were flanked most narrowly by D3S1259 and D3S1293. Radiation hybrids and haplotype analysis of markers within this region suggest that BTD is located within a 0.1-cM region flanked by D3S3510 and D3S1286. The radiation hybrid data suggest that the BTD gene is oriented 5' to 3' between the centromere and the 3p telomere. Association studies indicate that the gene is closer to a third locus D3S3613 than D3S3510, two markers which cannot be resolved by existing linkage data. The BTD locus and D3S3613 must therefore lie between D3S3510 and D3S1286. Comparison of haplotypes reveals evidence for possible founder effects for four of the five common mutations.
BACKGROUND/AIMS: Although malignant obstruction, itself, is a significant risk factor associated with post-operative mortality, factors affecting mortality in the surgery of malignant obstruction have not been thoroughly studied in the literature. METHODOLOGY: In order to identify independent risk factors which might be associated with an increase in post-operative mortality in patients with malignant biliary obstruction, 24 clinical and laboratory parameters in 52 patients undergoing biliary tract surgery were analyzed retrospectively. RESULTS: Simple regression revealed 24 factors with prognostic significance, but multivariate analysis detected only 3 factors with independent significance in predicting mortality (cholangitis, weight loss of 10 kg or more and operative or post-operative blood transfusion). The presence of 2 of these risk factors identified a group of patients with an 37% mortality rate. CONCLUSIONS: The results of this study show that the presence of pre-operative cholangitis, marked weight loss, and operative and post-operative blood transfusion are associated with high post-operative mortality. The major challenge is the prevention of cholangitis in high-risk patients, improvement of the nutritional status of the patients, and avoidance of unnecessary blood transfusions.
BACKGROUND/AIMS: Although periampullary carcinoma can often be diagnosed at an early stage because of its strategic location, in a substantial number of cases (23% to 25% of periampullary carcinoma cases), the papilla can be prominent, but without an identifiable mass or ulceration. As a result, duodenoscopy alone can miss the tumor. In this series, the usefulness of sphincterotomy in establishing a diagnosis of periampullary carcinoma is documented. MATERIALS AND METHODS: A total of 664 patients, who had clinical, biochemical and/or sonographic evidence of pancreaticobiliary disorders underwent endoscopic retrograde cholangiopancreaticography (ERCP) at Hacettepe University Hospital between March 1985 and September 1994. All identified lesions were biopsied. RESULTS: In sixty-six of the 664 patients, a specific periampullary or pancreatic diagnosis could be made. These included 30 cases of pancreatic carcinoma (14 in the head, 15 in the corpus, and 1 in the tail), 10 cases of chronic pancreatitis, 15 cases of periampullary carcinoma and 11 miscellaneous. None of the 15 periampullary carcinomas was demonstrable by abdominal computed tomography, sonography or pancreatic angiography. In 12, the diagnosis was established immediately by endoscopic visualization of the tumor and biopsy. In the remaining 3, the tumor was visualized as a protruding mass only after a papillatomy was performed. All cases were treated surgically with a pylorus preserving pancreaticoduodenectomy. No symptoms of dumping were experienced postoperatively. The survival of these 15 patients was good with a mean survival of 24.2 months. CONCLUSIONS: Careful endoscopic examination of the periampullary mucosa before and after sphincterotomy is required to identify periampullary carcinoma. A pylorus preserving pancreaticoduodenectomy revealed excellent post-surgical outcome with no post operative symptoms of the dumping syndrome.
BACKGROUND/AIMS: Bacterial translocation induced by intestinal obstruction is suggested to be due to increased intestinal luminal volume, leading to intestinal overgrowth with certain enteric microorganisms and intestinal mucosal damage. If this suggestion is true, maintenance of intestinal mucosal integrity by a cytoprotective agent, a-tocopherol, and inhibition of gastrointestinal secretions by octreotide should decrease the incidence of bacterial translocation and extent of mucosal injury due to intestinal obstruction. METHODS: Complete intestinal obstruction was created in the distal ileum of male Wistar Albino rats by a single 3-0 silk suture. The animals received subcutaneous injections of 1 ml of physiologic saline (group 1) (PS 24) and 1 ml of saline containing octreotide acetate (100 micrograms/kg) (group 2) (OC 24), at 0, 12 and 24 hours of obstruction. In group 3 (PS 48) and group 4 (OC 48), the rats were treated with subcutaneous physiologic saline (1 ml) and octreotide acetate (100 micrograms/kg), respectively, beginning at the time of obstruction and every 12 hours for 48 hours. The rats in group 5 (Toc 24), were pretreated with intramuscular a-tocopherol 500 mg/kg on day 1 and 8, and underwent laparotomy on day 9. A third dose of a-tocopherol was injected at the time of obstruction on day 9 and no treatment was given thereafter. We tested the incidence of bacterial translocation in systemic organs and circulation and evaluated the histopathological changes in all groups. RESULTS: Treatment with octreotide acetate was found to be ineffective in reducing the incidence of translocation, with no histopathological improvement. Mucosal damage scores, on the other hand, in the a-tocopherol group were statistically less than those in the octreotide and control groups (p < 0.05). Additionally, a-tocopherol treatment decreased the incidence of organ invasion with translocating bacteria, although this difference did not reach statistical significance. CONCLUSION: Octreotide acetate treatment in complete intestinal obstruction has no effect on the incidence of bacterial translocation. a-Tocopherol, on the other hand, has a cytoprotective effect on intestinal mucosa in intestinal obstruction which, in turn, is thought to decrease bacterial translocation when used in physiological doses and prophylactically.
BACKGROUND: Congenital bands, congenital anomalies of the intestinal rotation and congenital defects in the mesentery or omentum, postsurgical or traumatic defects of the mesentery and omentum are important factors that predispose to internal herniation. In this retrospective study, 18 cases of internal herniation were evaluated and the factors that effect the prognosis were investigated. METHODS: The records of 609 patients who underwent laparotomy due to acute intestinal obstruction were retrospectively reviewed. The cause of intestinal obstruction was internal herniation in 18 patients. The patients were evaluated with respect to signs and symptoms, radiological findings, time elapsed between the onset of symptoms and surgery, findings, in surgery, type of operation performed, postoperative complications and postoperative stay. RESULTS: Postoperative complications were encountered more frequently in the patients with bowel strangulation (p=0.045) in our series. Time elapsed between the onset of symptoms and laparotomy was found to be significantly longer in the patients with strangulation than in those without strangulation (p=0.046). Additionally, postoperative hospital stay was shorter in the patients without strangulation (p=0.03). CONCLUSIONS: Since preoperative diagnosis of an internal herniation is very difficult because of the lack of specific signs and symptoms, postoperative complications can only be decreased with early surgical intervention in the patients with acute intestinal obstruction.