Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations

Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene.     

Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count

Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old girl with GSD type 1b that was dignosed by mutation analysis. The patient was hospitalized with fever, diarrhea, and perioral and anal ulcers. Colonoscopy was performed and IBD-like colitis was diagnosed. The patient had elevated platelet count beyond the age of three months, but IBD-like colitis was diagnosed at three years of age. An elevated platelet count may be a warning sign for the IBD-like colitis in young patients with GSD type 1b.     

Delayed gastric emptying in gastroesophageal reflux disease: the role of malrotation

The association between gastroesophageal reflux (GER) and intestinal malrotation (IM) has been well described. Delayed or impaired gastric emptying in IM is thought to be a contributing factor in the development of gastroesophageal reflux disease (GERD). The current study assessed the role of malrotation in delayed gastric emptying in children with GERD. We also evaluated the interactions between GERD, malrotation, gastric pH abnormalities, and gastric dysmotility. Sixty-seven patients between 1 and 5 years of age (mean 3.08±1.2) and with symptoms of GER, such as emesis, reactive or recurrent lung disease, and/or growth retardation, were studied in 2001–2005. Upper and lower gastrointestinal contrast studies were performed for the diagnosis of malrotation. Gastric motility was evaluated with a liquid gastric emptying protocol. GER was documented by upper gastrointestinal studies, scintigraphy, and/or 24-h pH monitoring. In our series of 44 children with GERD, there was an unexpectedly high incidence of IM: 54.5% (24/44). IM has previously been known to occur in 25% of patients with GERD. GERD was found in 24 (82.7%) of 29 patients with IM. Mean nuclear gastric emptying (MNGE) was 51.6±8.04 min in patients with isolated GERD and 96.6±20.5 min in children with IM and GERD. There was a statistically significant difference in MNGE time (p<0.05) between children with primary GERD and in those with GERD and IM. Esophageal pH monitoring showed that mean fraction time below pH 4 was 7.06±1.1% in patients with isolated GERD and 14.7±4.1% in patients with IM and GERD. GERD is common in children between 1 and 5 years old. Using gastric emptying studies and esophageal pH monitoring, we have shown that gastric dysmotility and esophageal pH abnormalities are highly prevalent, especially in children with malrotation compared with children with isolated GERD. These findings suggest that malrotation is an important factor responsible for delayed gastric emptying in GERD. Hence, we recommend that all infants and children with GERD and delayed gastric emptying undergo careful evaluation for malrotation.     

Enhanced tissue factor pathway inhibitor response as a defense mechanism against ongoing local microvascular events of Legg-Calve-Perthes disease

The precise pathogenetic basis of Legg-Calve-Perthes disease (LCPD) is currently unknown. Hemostatic abnormalities, i.e., hypercoagulability and/or hypofibrinolysis, were proposed in the genesis of the LCPD. Deficiency of tissue factor pathway inhibitor (TFPI), a critical natural anticoagulant molecule, may lead to a prothrombotic state in a wide variety of conditions. The aim of this study is to assess the circulating TFPI pool in the LCPD. Group I consisted of 44 patients with LCPD and group II comprised 38 healthy children. Median (IQR) TPFI concentration was significantly higher in the group I (p < .0001). Enhanced TFPI response could be regarded as a compensatory defense mechanism against ongoing local microvascular events of occlusion and revascularization of LCPD. TFPI molecule may be an important link between the crossroads of the LCPD genesis and pathogenetic microvascular changes in the disease course. Further investigations are needed to shed light on the endothelial anticoagulant kinetics, the unique microvascular compromise, and the self-limiting nature of the disease.     

Intracranial epidermoid cysts: diffusion-weighted, FLAIR and conventional MR findings

PURPOSE: To compare diffusion-weighted echo-planar imaging (DW) with spin-echo (SE), and fluid-attenuated inversion recovery (FLAIR) sequences in the evaluation of epidermoid cysts (ECs), and to evaluate T2 shine-through effect. MATERIALS AND METHODS: Fifteen patients were imaged prospectively in two different 1.5 T magnetic resonance (MR) units with standard head coils with SE, FLAIR and DW echo planar imaging sequences. The qualitative and quantitative assessments were performed by two radiologists in consensus. Apparent diffusion coefficient (ADC) values were obtained from all ECs. Exponential DW images are obtained in 11 cases to eliminate T2 shine-through effects. The results are analyzed with variance analysis (ANOVA) and Bonferroni t method. RESULTS: FLAIR sequence was superior to T1- and T2-weighted sequences in showing ECs. In 13 cases, the borders of the lesions could be delineated from the surrounding structures with only DW imaging where ECs were markedly hyperintense. The ADC values of ECs are significantly lower than CSF (P < 0.001), and significantly higher than deep white matter (P < 0.01). On exponential DW images, ECs had similar intensity with brain parenchyma showing that the real cause of the hyperintensity of the lesions on trace images is the enhanced T2 effect of the tissue. CONCLUSION: FLAIR sequence is superior to the conventional MR sequences in demonstrating the ECs and DW imaging is superior to other MR sequences in delineating the borders of the ECs. Exponential DW images had shown that the hyperintensity in the trace images are caused by increased T2 effect of the lesion rather than the decrease in ADC values.     

Changes in serum CA-125 levels after laparotomy?

There is no adequate data in the medical literature defining serum CA-125 levels after laparotomy. Therefore we designed this prospective study to evaluate the effects of laparotomy for hysterectomy on serum CA-125 levels. Ninety-four women (mean age 44.6 +/- 6.9 years) were included in the study between January, 2001 and April, 2003. Hysterectomies were performed in patients with chronic pelvic pain, dysfunctional uterine bleeding and myoma uteri. Mean serum CA-125 levels of the patients before and after laparotomy were 16.29 +/- 8.11 U/ml and 16.37 +/- 8.05 U/ml, respectively. The change in serum CA-125 levels prior to the operation was statistically insignificant when compared with the levels obtained at 24 hours after laparotomy (p > 0.05). We found that laparotomy for hysterectomy did not change the levels of CA-125 at the 24th hour after the operation, indicating either serum CA-125 levels are not correlated, at least within 24 hours, with peritoneal irritation or peritoneal irritation was minimal or absent in our operations.     

Hypermobility syndrome in 105 women with pure urinary stress incontinence and in 105 controls

We compared the frequency of Hypermobility Syndrome (HS) in 105 patients with urinary stress incontinence (USI) with the frequency of HS in 105 healthy controls that matched for age and parity. A Beighton score (BS) of more than 3 was used to make the clinical diagnosis of HS. Thirty-six patients (34.28%) from the USI group and 28 patients (26.66%) from the control group were diagnosed as HS. The mean BS values were 6.44±0.35 and 5.21±0.29 respectively. The difference between the two groups was statistically significant (P<0.05).     

Nursing role on preventing secondary brain injury

Secondary brain injury is a complicated, multifactorial process that results from hypoxemia, hypercapnia or hypocapnia, and increased ICP. Implementation of a traumatic brain injury protocol for patients with head injury including hemodynamic management, pulmonary care, maintenance of body temperature, control of the environment, positioning of patients, and seizure prophylaxis provides critical care nurses a proactive means to prevent or minimize the development of secondary brain injury in the emergency department.     

Comparison of changes in tissue oxidative-stress markers in experimental model of open, laparoscopic, and retroperitoneoscopic donor nephrectomy

PURPOSE: We evaluated the oxidative stress in renal tissue during three types of surgery: open donor nephrectomy (ODN), laparoscopic donor nephrectomy (LDN), and retroperitoneoscopic donor nephrectomy (RDN). The aim was to find out which is the appropriate procedure for harvesting a donor kidney. MATERIALS AND METHODS: Twenty-four New Zealand White rabbits were randomized to four groups, each consisting of six rabbits. Group I (control) was subjected to 180 minutes of anesthesia, and transperitoneal nephrectomy was performed without creation of warm ischemia. In group II (ODN), after 180 minutes of anesthesia, warm ischemia was created for 5 minutes, and nephrectomy was performed. Group III (LDN) was subjected to 5 minutes of warm ischemia after 180 minutes of pneumoperitoneum at 12 mm Hg, and the kidney was removed. In group IV (RDN), after pneumoretroperitoneum at 12 mm Hg for 180 minutes, warm ischemia was created for 5 minutes, and nephrectomy was performed. Renal tissues were analyzed to determine malondialdehyde (MDA) and reduced glutathione (GSH) as oxidative-stress markers. RESULTS: Renal tissue GSH levels were decreased, whereas MDA levels were increased in groups II through IV compared with the control group (p<0.05). There was no statistically significant difference between the ODN, LDN, and RDN groups in the renal oxidative-stress markers. CONCLUSION: No differences were detected in oxidative-stress markers in renal tissue samples between ODN, LDN, and RDN. Therefore, we believe LDN and RDN can be used for live donor kidney harvesting as effectively as ODN without creating greater oxidative stress, which can have deleterious effects on a donor kidney.