Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients

Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive neurologic disorder characterised by multiple mitochondrial DNA deletions. In this study, five Turkish MNGIE patients are investigated for mtDNA deletions and TP gene mutations. The probands presented all the clinical criteria of the typical MNGIE phenotype; the muscle biopsy specimens also confirmed the diagnosis with ragged red fibres and cytochrome C oxidase (COX) negative fibres. The mitochondrial DNA analysis revealed no deletions in the probands' skeletal muscle samples. We have identified four novel mutations in the TP gene while one of the patients also harboured a nucleotide change, which was previously reported as a mutation.     

Infective endocarditis caused by group G streptococcus with multiple cerebral emboli

The group G streptococcal endocarditis is a rare form of infective endocarditis. In this form of infective endocarditis, serious neurological complications most commonly develop. We reported this case because of its being an unusual form of infective endocarditis that was caused by Group G Streptococcus. We also reviewed the literature. The patient was admitted to infectious disease service with a presumptive diagnosis of central nervous system infection. Blood cultures were positive for group G streptococcus. There was a mass on the posterior surface of the mitral valve which was 2 x 2.5 cm in length on the echocardiography. In the cranial computerized tomography of our patient, slightly increased contrast media uptake was observed in the both parietal lobes, in the both frontal lobes, and in the anterior areas of right occipital lobe. Therefore, this case was assumed as infective endocarditis caused by group G streptococcus with multiple cerebral emboli. Ceftriaxone was given for 4 weeks and gentamicin was given for 2 weeks, and progressive improvement of the patient's condition was seen.     

First emerging evidence of the relationship between Onuf’s nucleus degeneration and reduced sperm number following spinal subarachnoid haemorrhage: Experimental study

Lumbosacral pathologies can lead to infertility. Onuf's nucleus changes in these pathologies may have a role in low sperm number. This study aims to investigate the relationship between Onuf's nucleus degeneration and sperm number following spinal subarachnoid haemorrhage. 22 rabbits were used. They were divided into three groups; five of them were used as the control (GI), five as the SHAM (GII) and twelve as the study groups (GIII). The study group received 0.7 ccs autologous blood into the spinal subarachnoid space at the T12-L1 level. After two weeks, all animals were decapitated, and S1–S3 laminectomy was done. Neurodegenerative changes of Onuf's nucleus, pudendal ganglia (S3) following two weeks after spinal SAH, were examined; sperm numbers were calculated. Degenerated neuron density of the Onuf's nucleus (n/mm³), the pudendal ganglia (S3) (n/mm³) and mean sperm numbers were calculated as 5 ± 2, 8 ± 3/mm³ and 98.345 ± 12.776/mm³ in the control (GI), 20 ± 5/mm³, 243 ± 66/mm³ and 91.841 ± 9.654/mm³ in the SHAM (GII), 143 ± 39/mm³, 2,350 ± 320/mm³ and 68.549 ± 5.540/mm³ in the study group (GIII). In conclusion, there were statistically significant differences between groups. Onuf's nucleus may be responsible for decreased sperm number following spinal SAH.     

Impact of initial midline shift in glioblastoma on survival

Neurosurgical Review - The impact of midline shift (MLS) on long-term survival and progression in glioblastoma (GBM) is unknown. The objective of this study was to analyze the influence of mass...     

Risk factors for mortality in geriatric hip fractures: a compressional study of different surgical procedures in 785 consecutive patients

Background

Only a little is known about whether type of surgical intervention has an effect on mortality of these patients. Our primary objective was to assess whether different type of surgical procedures has an effect on mortality among elderly patients with hip fracture. A secondary objective was to examine factors that are related to mortality in our patient population. Our hypothesis is that type of surgical procedure, especially external fixation, should have an influence on mortality outcomes.

Methods

We included 785 patients age 65 years or older, with hip fractures. Operative treatment consisted of external fixation, internal fixation, total hip arthroplasty and hip hemiarthroplasty. Age, gender, type of fracture, type of surgery performed, American Society of Anesthesiology (ASA) grade, clinical comorbidities, anesthesia type, blood transfusion requirement, time to surgery, intensive care unit requirement, operation length and length of hospital stay and number of comorbidities were documented.

Results

During the study period, 785 patients (262 male, 523 female) were included to study, Overall mortality rate was 37.2 % (292/785). Their age ranged between 65 and 100 years (mean 81). Surgery type Kaplan–Meier cumulative mortality curves suggested no significant difference between four different types of surgery groups (p = 0.064). Transfusion requirement was significantly lower in external fixation group comparing to other groups (p = 0.014). Cox regression analysis showed the number of comorbidities 2 and ≥ 3 (p = 0.0027, p = 0.015), transfusion requirement (p = 0.0001), ASA 4 (p = 0.016) to be significant predictors of mortality.

Conclusions

Transfusion requirement, ASA grade 4 and having more than two comorbidities are risk factors for mortality in geriatric hip fractures. Type of surgical intervention and fracture type had similar mortality rates in our patient population.

     

Deletion analysis in Turkish patients with spinal muscular atrophy

Childhood proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder which presents as a severe, intermediate or mild condition. Here we present the molecular analysis of SMA candidate genes, the survival motor neuron gene (SMN), the neuronal apoptosis inhibitory protein gene (NAIP) and the p44 gene. Deletion frequency rate of these candidate genes is 93% in 106 Turkish SMA patients. Various deletion haplotypes by using genotypes of SMN, NAIP and p44 genes are constructed. Haplotype A, which is the deletion of all three involved genes, was found only in the most severe group with an early onset of usually less than 2 months of age.     

Effects of Copper Oxide Nanoparticles on Antioxidant Enzyme Activities and on Tissue Accumulation of <Emphasis Type="Italic">Oreochromis niloticus</Emphasis>

Accumulation of copper oxide nanoparticles (CuO NPs) in gill, liver and muscle tissues of Oreochromis niloticus and its effects on superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPx) activities in gill and liver tissues were studied after exposing the fish to 20 µg/L Cu over 15 days. Copper levels and enzyme activities in tissues were determined using spectrophotometric (ICP-AES and UV) techniques respectively. No mortality was observed during the experiments. Copper levels increased in gill and liver tissues of O. niloticus compared to control when exposed to CuO NPs whereas exposure to metal had no effect on muscle level at the end of the exposure period. Highest accumulation of copper was observed in liver while no accumulation was detected in muscle tissue. SOD, CAT activities decreased and GPx activity increased in gill and liver tissues when exposed to CuO NPs.