Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig

In this report we describe the first two US patients with congenital disorder of glycosylation type Ig (CDG-Ig). Both patients presented with symptoms indicating CDG, including developmental delay, hypotonia and failure to thrive, and tested positive for deficient glycosylation of transferrin. Labeling of the patients' lipid-linked oligosaccharides suggested mutations in the hALG12 gene, encoding a mannosyltransferase. Both patients were shown to carry previously unpublished hALG12-mutations. Patient 1 has one allele with a deletion of G29, resulting in a premature stop codon, and another allele with an 824G>A mutation yielding an S275N amino acid change. Patient 2 carries two heterozygous mutations (688T>G and 931C>T), resulting in two amino acid exchanges, Y230D and R311C. An adenoviral vector expressing wild type hALG12 corrects the abnormal lipid-linked oligosaccharide pattern of the patients' cells. In addition to common CDG symptoms, these patients also presented with low IgG and genital hypoplasia, symptoms previously described in CDG-Ig patients. We therefore conclude that a combination of developmental delay, low IgG, and genital hypoplasia should prompt CDG testing.     

Hearing loss does not occur in young patients undergoing spinal anesthesia

BACKGROUND AND OBJECTIVES: Although uncommon, hearing loss after spinal anesthesia has been described. Vestibulocochlear dysfunction after spinal anesthesia in which 22-gauge and 25-gauge Quincke needles were used was investigated to determine if needle size affected hearing. METHODS: Patients with American Society of Anesthesiologists physical status I and II, aged 20 to 40 years, who were undergoing lower extremity surgery under spinal anesthesia were randomized into 2 groups. After intravenous hydration, 3 mL of 0.5% bupivacaine was administered for spinal anesthesia, which was performed with a 22-gauge Quincke needle in group I (n=30) patients and a 25-gauge Quincke needle in group II (n=30) patients. Before surgery and 2 days after surgery, pure-tone audiometry and tympanometry were performed. Preoperative and postoperative hearing data were obtained in the right and left ears for every frequency. Headache, nausea, and vomiting and cranial nerve III, IV, V, VI, VII, and VIII function were assessed on postoperative day 2. RESULTS: Demographic data were not different between the groups. No hypoacousis was noted at any frequency during the entire testing period in either group. Two patients from group I experienced postdural puncture headache on postoperative day 3, and neither had hearing loss. No patient had cranial nerve dysfunction. CONCLUSIONS: We were unable to induce hearing loss in young patients undergoing spinal anesthesia by injecting the anesthetic with a 22-gauge or a 25-gauge Quincke needle.     

Development of the Attitude Scale for Nursing Profession

There is a need to have an appropriate instrument to measure the attitudes towards nursing profession. This study was carried out to develop an Attitude Scale for Nursing Profession (ASNP). The population of the study is composed of final-year students of high schools, the patients, the nurses and students of nursing department. A total of 600 participants were included in this study. The people in the sampling group were asked to write a composition containing their feelings and thoughts about nursing. These compositions were analysed and 89 items about positive and negative attitude were determined. These items were presented to expert opinion and after necessary editions, reliability and validity analyses were conducted. The resulting ASNP consists of 40 items across the following three domains: properties of nursing profession prefer to nursing profession, general position of nursing profession. The final model in confirmatory factor analysis showed that this 40-item ASNP indicated a good fit of the model. The value of the Cronbach's α for the total scale was 0.91. The ASNP is determined to be quite highly valid and reliable, sufficient measuring instrument to determine attitude towards the profession.     

Incremental Value of Three‐Dimensional Echocardiography over the Two‐Dimensional Technique in the Assessment of Combined Sinus of Valsalva Rupture into the Right Ventricle and Adjacent Perimembranous Ventricular Septal Defect

We describe the incremental value of live/real time three‐dimensional (3D) echocardiography over the 2D technique in the assessment of ruptured right sinus of Valsalva into the right ventricle associated with an adjacent perimembranous ventricular septal defect in an elderly patient.     

Investigation of the Factors Affecting Allograft Kidney Functions: Results of 10 Years

IntroductionSignificant improvements in patient and graft survival and reductions in the frequency of acute rejection were obtained in the early period after renal transplantation, but this success was not sufficiently reflected in the long term. Allograft kidney losses in the long term remain a significant problem. In this study, we investigated the specific causes of graft losses in patients who had a good clinical course in the first year but developed graft loss in the long term.MethodsA total of 118 patients who underwent kidney transplantation in 2005 and 2006 in the Organ Transplantation Center of Ege University Medical Faculty Hospital were evaluated. The inclusion criteria were to be older than 18 years and have a serum creatinine value of <2 mg/dL at the 12th month after transplantation.ResultsSixty-one percent of the recipients were male, and the mean age at the time of transplantation was 34 ± 11 years (18 to 61). We observed 29 graft losses during the mean follow-up period of 129 ± 35 months (27 to 162). Three of the graft losses were death by functional graft. Of the 26 patients with graft loss, 16 had chronic rejection, and 8 had recurrent glomerulonephritis. The relationship between nonimmune causes and graft loss was not detected.ConclusionsIn conclusion, nonimmune factors may not be as important as we think in relatively young and healthier recipients. Chronic rejection and recurrent glomerulonephritis are the main causes of long-term graft loss of patients with good graft function at the end of the first year. Improvement of long-term survival will be possible with the prevention and effective treatment of these 2 problems.     

Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion

BACKGROUND: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. AIMS: We therefore investigated the XCI patterns in peripheral blood DNA obtained from 80 patients who had RSA and 160 age-matched controls. METHODS: Pregnancy history, age, karyotype, and disease information was collected from all subjects. The methylation status of a highly polymorphic cytosine-adenine-guanine repeat in the androgen-receptor (AR) gene was determined by use of methylation-sensitive restriction enzyme HpaII and polymerase chain reaction. RESULTS: Skewed XCI (> 85% skewing) was observed in 13 of the 62 patients informative for the AR polymorphism (20.9%), and eight of the 124 informative controls (6.4%) (P = 0.0069; chi2 test). More importantly, extremely skewed XCI, defined as > 90% inactivation of one allele, was present in 11 (17.7%) patients, and in only two controls (P = 0.0002; chi2 test). CONCLUSIONS: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.     

Evaluation of bone metabolism and bone mass in patients with type-2 diabetes mellitus

The objectives of this study were to determine whether type-2 diabetes was associated with a higher bone mineral density (BMD) in men and women and to evaluate the differences in mineral metabolism between diabetic and normal subjects by using biochemical bone turnover markers. In this study, 52 patients (37 females/15 males) aged 41-64 with type-2 diabetes mellitus and 48 nondiabetic control subjects (34 females/14 males) were evaluated. In men, BMD was significantly higher in diabetics at the forearm (p <0.05), whereas in women tended to be higher at the hip (p=0.002). Serum osteocalcin (p<0.0001), bone alkaline phosphatase (BAP) (p<0.05) and carboxyterminal telopeptide (CTx) (p<0.05) were higher in the control group than in diabetics. In men, serum osteocalcin (p<0.05) and CTx (p<0.005) and, in women, serum osteocalcin (p<0.0001) and BAP (p<0.05) were lower in diabetic subjects. In conclusion, our findings suggest that although bone formation is decreased in type-2 diabetes, diabetic patients are not susceptible to bone resorption. This low bone turnover can slow the rate of bone loss and cause a higher bone density than expected for their age.     

Cowden syndrome: a major indication for extensive cancer surveillance

Cowden syndrome (CS) or multiple hamartoma syndrome is a rare genetic disorder related to increased cellular proliferation of ectodermal, mesodermal, and endodermal tissues. It is characterized by multiple hamartomas and malignant neoplasms. Cancers of the breast, thyroid, endometrium, and skin are the most prevalent ones. Although close surveillance for cancer is required, many cases are undiagnosed or diagnosis comes at a late stage, partly due to the variable phenotype of the disease. Detection of multiple skin lesions of different characteristic in a patient with other local and systemic pathologies prompts further evaluation for CS. A case of CS, whose diagnosis is based upon skin lesions, alimentary tract polyposis, mental dullness, and history of spinal arteriovenous malformations, is discussed in this report.