Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases

.We report five patients with Laurence-Moon-Bardet-Biedl syndrome (LMBBS) who had renal involvement. Intravenous pyelography showed bilateral or unilateral calyceal clubbing and blunting in all patients. In addition, one patient had a parapelvic cyst in the left kidney and another had bilateral lobulated renal outlines of the fetal type. One patient had a urinary concentrating defect and two patients showed increased fractional sodium excretion. Estimated tubular phosphate reabsorption values were in normal limits in all of five patients. No patient had a urine acidification defect, proteinuria, glycosuria, or hyperaminoaciduria. One patient died from end-stage renal failure. The remaining four patients had normal serum creatinine values and estimated creatinine clearances. ^99mTechnetium-diethylenetriamine pentaacetate renal scanning showed prolonged and delayed concentration and delayed excretion in three of the four patients who survived. A focal scar was determined on the left kidney of one of four patients by ^99mtechnetium-dimercaptosuccinic acid renal scanning. All LMBBS cases with or without renal symptoms should be routinely evaluated for renal abnormalities. Renal scanning is a valuable method, especially for determining the renal involvement in the early stage of disease. Received November 14, 1995; received in revised form and accepted May 23, 1996     

The utility of cytokeratins 7 and 20 (CK7/20) immunohistochemistry in the distinction of short-segment Barrett esophagus from gastric intestinal metaplasia: Is it reliable?

BACKGROUND: The purpose of the present correlative immunohistochemical study was to assess the utility of cytokeratin (CK7 and CK20) expression in the diagnosis of short-segment Barrett esophagus, particularly its efficacy in differentiating Barrett mucosa from intestinal metaplasia of the gastric cardia and corpus. METHODS: Two groups of endoscopic biopsy specimens were examined, including 20 endoscopic biopsy specimens of short-segment Barrett esophagus (Group A) and equal number exhibiting Helicobacter pylori associated intestinal metaplasia of the gastric cardia and corpus (Group B). All were investigated by immunohistochemistry using the standard ABC method for CK7 and CK20 expression. Fisher's exact test was used for statistical analysis of Barrett CK7/20 and gastric CK7/20 patterns between the groups. RESULTS: The anticipated pattern of reactivity in Barrett mucosa (CK7: strong diffuse positivity in superficial and deep glands; CK20: positivity in surface epithelium and superficial glands) was seen in 2 cases of Group A specimens. The expected gastric pattern (CK7: patchy immunostaining with variable involvement of deep glands; CK20: patchy immunostaining of superficial and deep glands in incomplete intestinal metaplasia / absence of CK7 immunoreactivity with strong CK20 staining in superficial and deep glands in complete intestinal metaplasia) was seen in 8 cases of Group B specimens. The respective sensitivity and false-negativity values of CK7/20 staining for Barrett pattern in Group A were 10% and 90%, respectively. These values for gastric pattern in Group B were 40% and 60%, respectively. The specificity and false-positivity values of both patterns were same (100% and 0%, respectively). There was no statistically significant difference for Barrett pattern between the two groups (P = 0.487), while the observation of gastric pattern was significantly higher in Group B than in Group A (P = 0.02). CONCLUSIONS: We concluded that these hypothesized and recently applied diagnostic criteria involving CK7 and CK20 immunoreactivity are not reliable in distinguishing short-segment Barrett esophagus from intestinal metaplasia as seen in gastric cardia and corpus.     

Comparative genomic hybridization in ganglioneuroblastomas.

The ganglioneuroblastoma are rare lesions with widespread neuronal differentiation that have been classified as intermediate stages between neuroblastoma and ganglioneuroma. To identify overall chromosome aberrations in ganglioneuroblastoma, we performed comparative genomic hybridization. All of the five tumor samples were found to exhibit multiple gains involving different chromosomal regions. Chromosomal gains displayed by chromosomes and chromosome loci were 2p25 approximately pter (60%), 5p15.1 approximately p15.3 (60%), 7 (60%), 13q22 approximately q31 (60%), and 22 (60%), which were detected as minimal common regions in all five tumor samples. Chromosome 22 gain, which had not been reported in neuronal tumors before, and novel site 13q22 approximately q31 may be considered to play an important role in progression and differentiation of ganglioneuroblastoma.     

Bilateral immediate two-stage breast reconstruction in patients with unilateral breast cancer: Outcomes analysis and risk assessment

IntroductionContralateral prophylactic mastectomy has the potential to decrease the occurrence of cancer and reduce psychological burden. However, it is known that complications after bilateral mastectomy are higher compared with unilateral mastectomy. Our goal was to evaluate outcomes of immediate breast reconstruction in patients undergoing bilateral mastectomy and to compare complication rates between therapeutic and prophylactic sides.Patients and MethodsElectronic medical records of patients with unilateral breast cancer who underwent bilateral mastectomy and immediate reconstruction with expanders were reviewed. Postoperative complications were compared between therapeutic and prophylactic mastectomy sides.ResultsSixty-two patients were analyzed. The overall complication rate after both stages was 23.9% on the therapeutic side and 16.5% on the prophylactic side. Infection was the most common complication on both sides. All infections on the prophylactic mastectomy side were successfully treated with intravenous (IV) antibiotics (salvage rate of 100%), whereas 35.7% of infected tissue expander/implants on the therapeutic mastectomy side were explanted despite treatment.ConclusionCareful counselling of patients undergoing elective contralateral prophylactic mastectomy is essential as complications can develop in either breast after reconstruction.     

Clostridium difficile acquisition rate and its role in nosocomial diarrhoea at a university hospital in Turkey

Infection with Clostridium difficile can present with various clinical pictures ranging from an asymptomatic carrier state to pseudomembranous colitis and plays an important part in the etiology of nosocomial diarrhoea. To identify risk factors for C. difficile colonization and diarrhoea in hospitalized subjects, patients admitted to a general medicine ward at Marmara University hospital during a one year period were entered into the study. Of the 202 patients, nosocomial diarrhoea developed in 45 (22.3%). Fourteen patients (6.9%) were colonized with C. difficile during their hospitalization period. Ten of the colonized patients (71.4%) developed diarrhoea and were found to be positive by toxin assay. Pseudomembranous colitis was confirmed endoscopically in 3 of the patients with diarrhoea. Administration of beta lactam agents such as ampicillin and cephalosporins; gastrointestinal manipulations and admission to the intensive care unit were found as major risk factors for C. difficile colonization.     

Surface dose and build-up region measurements with wedge filters for 6 and 18 MV photon beams

Purpose  

High-energy photons are most commonly used in radiotherapy to treat cancer. Wedge filters are required to obtain homogeneous dose distribution in the patient. Different wedge filter types create different surface doses. In this study, the effect of the virtual and physical wedge filters on the surface and build-up region doses was examined for 6- and 18-MV high-energy photon beams.     

Primary hypertrophic pyloric stenosis in the adult: a case report.

A 66-year-old male was admitted with a two-month history of vomiting and weight loss. Endoscopy showed a pyloric obstruction and the patient underwent subtotal gastrectomy with gastro- jejunostomy. The histopathological study of the specimen revealed primary hypertrophic pyloric stenosis without any evidence of duodenal peptic disease. In the adult, this is a rare cause of gastric outlet obstruction of unknown etiology. It is usually recognized by histopathological examination of the specimen after a gastric resection performed to treat gastric outlet obstruction syndrome. However, some endoscopic and radiological signs, such as the cervix sign, or elongation of the pyloric channel, may give clues about the presence of the disease preoperatively. In symptomatic cases, surgery is the preferred treatment modality.     

Xanthelasmas of the upper gastrointestinal tract

Background Gastric xanthelasma is a benign and uncommon lesion with a variably reported frequency, while esophageal and duodenal xanthelasmas are quite rare.Methods Seventeen patients who had the diagnosis of xanthelasma in the upper gastrointestinal tract were analyzed retrospectively with respect to their demographic, clinical, endoscopic, and histopathologic features. All lesions suspected as xanthelasma were totally removed by either hot biopsy forceps or a snare with the technique of endoscopic mucosal resection.Results The incidence of upper gastrointestinal xanthelasmas in 7320 patients who had upper gastro-intestinal endoscopy was 0.23%. There were 9 (53%) men and 8 (47%) women, with a median age of 50 years (range, 24–80 years). The most common location of xanthelasmas was the stomach (76%), followed by the esophagus (12%) and duodenum (12%). All lesions were observed as yellow-white colored plaques at endoscopy. Multiple xanthelasmas were detected in 4 patients (24%); in the duodenum in 2, esophagus in 1, and stomach in 1. One patient had xanthelasma within a gastric hyperplastic polyp. The size of the lesion was less than 5mm in diameter in 14 (82%) patients and between 5 and 10mm in diameter in 3 (18%). Thirteen (76%) patients had moderate to severe atrophic gastritis, while the remainder had normal gastric mucosa.Conclusions Xanthelasmas of the upper gastrointestinal tract were mostly located in the stomach in the present series, which includes the second and third reported cases of duodenal xanthelasma, the second case of xanthelasma developed within a hyperplastic gastric polyp, and the fourth and the fifth cases of esophageal xanthelasma.     

Effect of dopamine infusion on thyroid hormone tests and prolactin levels in very low birth weight infants

Objective: To evaluate the effect of dopamine on thyroid hormone tests and prolactin (PRL) and to assess requirement for L-thyroxin (LT4).

Methods: The infants (n?=?102) were divided into three groups (Group 1; received no dopamine, Group 2 received ≤25?mg/kg cumulative dose and Group 3; received >25?mg/kg cumulative dose). Blood samples were taken at 6–8 days (timepoint 1), 13–15 days (timepoint 2), and 4–6 weeks of life (timepoint 3).

Results: Respiratory distress syndrome was higher in group 2 and 3. Patnet ductus arteriosus was higher in group 3 than in groups 1 and 2. Duration and cumulative dose in group 3 were higher than group 2. There was no difference between thyroid hormones that were taken after stopping infusion at timepoint 3 among all groups. No therapy with LT4 was needed. PRL levels were higher at timepoint 1 in group 1 than compared to group 2 and 3 (p?p?>?0.05). This difference was disappeared at following timepoints.

Conclusions: The release of TSH, FT3, FT4 and PRL were not inhibited and prophylactic thyroid hormone treatment was not required in VLBW infants receiving dopamine infusions.