Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders.

BACKGROUND: This study aimed to evaluate clinical, biochemical, and genotypic findings of patients diagnosed with urea cycle mitochondrial transporter disorders. CASE SERIES: In this study, patients followed up with the diagnosis of urea cycle mitochondrial transporter disorders in the pediatric metabolism outpatient clinic of Diyarbakir Children's Hospital were retrospectively examined. Height, weight, head circumference, gender, age at diagnosis, follow-up period, consanguinity history between parents, and treatments of the patients included in the study were evaluated. Eight patients suffering from urea cycle mitochondrial transporter disorders were enrolled in the study. Five patients were found to have biallelic variants of the SLC25A15 gene. Two patients were found to have biallelic variants of the SLC25A13 gene. Two of our patients presented with gait disturbances and were diagnosed with HHH syndrome. One patient presented with liver failure and was diagnosed with HHH syndrome. The other three patients were identified by family screening. Citrin deficiency was detected in two patients with cholestasis and hepatomegaly in the infantile period. Ornithine levels increased in three of our patients with HHH syndrome during the first month of treatment despite a protein-restricted diet and adequate caloric intake. CONCLUSIONS: Increasing patients' caloric intake with HHH syndrome improves their ornithine levels. Our patients with citrin deficiency recovered clinically and biochemically before seven months.

The relationship between intraoperative body temperature and thiol/disulfide balance in geriatric patients undergoing elective transurethral prostate resection surgery with spinal anesthesia.

OBJECTIVE: We aimed to investigate the relationship between intraoperative body temperature and thiol/disulfide balance in geriatric patients scheduled for elective transurethral prostate resection surgery with spinal anesthesia. PATIENTS AND METHODS: 71 patients classified as categories 1 and 2, according to American Society of Anesthesiologists (ASA) classification, were included in the study. The core temperature of the patients was recorded in the operating room after monitoring, at 5 and 30 minutes after spinal anesthesia. Total thiols, native thiols, disulfide amounts, disulfide/native thiol, disulfide/total thiol, and native thiol/total thiol were calculated as percentages after monitorization (Tpreoperative) and at 60 minutes after spinal anesthesia (Tintraoperative). RESULTS: The disulfide levels in the Tintraoperative period (29±8.9 mmol/L) were higher than the disulfide levels measured in the Tpreoperative period (18.2±8.8 mmol/L) (p<0.001). In the Tpreoperative period, the disulfide/native thiol (%) level was 4.6±2, while the disulfide/total thiol (%) level was 4.2±1.6. In the Tintraoperative period, the disulfide/native thiol (%) level was 8±2.3, while the disulfide/total thiol (%) level was 6.8±1.7. Native thiol/total thiol (%) levels for the Tpreoperative and Tintraoperative periods were 91.5±3.3 mmol/L and 86.3±3.4 mmol/L, respectively. A correlation was found between native, total thiol levels and patient age in the Tpreoperative and Tintraoperative periods. CONCLUSIONS: Oxidative stress can be reduced in geriatric patients with the possibility of developing involuntary perioperative hypothermia by regularly monitoring body temperature and applying warming techniques.

Rapid emergence of colistin resistance and its impact on fatality among healthcare-associated infections.

This article describes the emergence of resistance and predictors of fatality for 1556 cases of healthcare-associated Gram-negative bloodstream infection in 2014 and 2015. The colistin resistance rate in Klebsiella pneumoniae was 16.1%, compared with 6% in 2013. In total, 660 (42.4%) cases were fatal. The highest fatality rate was among patients with Acinetobacter baumannii bacteraemia (58%), followed by Pseudomonas aeruginosa (45%), Klebsiella pneumoniae (41%), Enterobacter cloacae (32%) and Escherichia coli (28%). On multi-variate analysis, the minimum inhibitory concentrations for carbapenems [odds ratio (OR) 1.02, 95% confidence interval (CI) 1.01-1.04; P = 0.002] and colistin (OR 1.1, 95% CI 1.03-1.17; P = 0.001) were found to be significantly associated with fatality.

Healthcare-associated Gram-negative bloodstream infections: antibiotic resistance and predictors of mortality.

This article describes the prevalence of antibiotic resistance and predictors of mortality for healthcare-associated (HA) Gram-negative bloodstream infections (GN-BSI). In total, 831 cases of HA GN-BSI from 17 intensive care units in different centres in Turkey were included; the all-cause mortality rate was 44%. Carbapenem resistance in Klebsiella pneumoniae was 38%, and the colistin resistance rate was 6%. Multi-variate analysis showed that age >70 years [odds ratio (OR) 2, 95% confidence interval (CI) 1.22-3.51], central venous catheter use (OR 2.1, 95% CI 1.09-4.07), ventilator-associated pneumonia (OR 1.9, 95% CI 1.1-3.16), carbapenem resistance (OR 1.8, 95% CI 1.11-2.95) and APACHE II score (OR 1.1, 95% CI 1.07-1.13) were significantly associated with mortality.

Safewards: the empirical basis of the model and a critical appraisal.

ACCESSIBLE SUMMARY: In the previous paper we described a model explaining differences in rates of conflict and containment between wards, grouping causal factors into six domains: the staff team, the physical environment, outside hospital, the patient community, patient characteristics and the regulatory framework. This paper reviews and evaluates the evidence for the model from previously published research. The model is supported, but the evidence is not very strong. More research using more rigorous methods is required in order to confirm or improve this model. ABSTRACT: In a previous paper, we described a proposed model explaining differences in rates of conflict (aggression, absconding, self-harm, etc.) and containment (seclusion, special observation, manual restraint, etc.). The Safewards Model identified six originating domains as sources of conflict and containment: the patient community, patient characteristics, the regulatory framework, the staff team, the physical environment, and outside hospital. In this paper, we assemble the evidence underpinning the inclusion of these six domains, drawing upon a wide ranging review of the literature across all conflict and containment items; our own programme of research; and reasoned thinking. There is good evidence that the six domains are important in conflict and containment generation. Specific claims about single items within those domains are more difficult to support with convincing evidence, although the weight of evidence does vary between items and between different types of conflict behaviour or containment method. The Safewards Model is supported by the evidence, but that evidence is not particularly strong. There is a dearth of rigorous outcome studies and trials in this area, and an excess of descriptive studies. The model allows the generation of a number of different interventions in order to reduce rates of conflict and containment, and properly conducted trials are now needed to test its validity.

An evaluation of nitric oxide, folate, homocysteine levels and lipid peroxidation in postmenopausal osteoporosis.

OBJECTIVES: In the current study, the risk coefficients of nitric oxide (NO), folate, homocysteine levels and lipid peroxidation in postmenopausal osteoporotic women were determined. MATERIAL AND METHODS: Bone mineral density was determined by dual-energy X-ray absorptiometry. The levels of serum lipid peroxidation products such as the thiobarbituric acid adduct of malondialdehyde (MDA) were measured spectrophotometrically. Plasma folate and homocysteine (Hcy) levels were measured by enzyme chemiluminescence immunoassay. Plasma nitrite levels were measured with the Griess reaction RESULTS: The odds ratios and 95% Confidence Intervals (CI) of the variables MDA, folate, NO, body-mass index (BMI), menopause age and age were found significant. MDA, NO and folate variables were found statistically significant in the analysis of receiver operating charecteristic (ROCs). The areas under the curve (AUCs, 95% CI) of MDA, NO and folate were found to be statistically significant. CONCLUSIONS: The current study indicates that NO, MDA and folate are risk variables for postmenopausal osteoporosis.

Cystic hygroma of the breast in a 5 year old boy presenting as a gynecomastia.

Cystic hygroma, also known as lymphangioma, are unusual congenital malformations of the lymphatic system. Cystic lymphangioma is a rare lesion in the breast of children. Only a few cases have been documented in literature. We report a rare case of a 5-year-old boy presented with a gradually enlarging, painless breast mass which was identified sonographically and histologically as a breast lymphangioma and treated by surgical excision. A local excision of the lump was performed and a diagnosis of cystic lymphangioma was made. Cyst was surgically removed, with preservation of normal tissue, and histopathologic findings showed a lymphangioma. The patient is well, after one year of follow-up, with no complaints or recurrence.

Psychometric properties of the Turkish version of the perception of aggression scale.

The aim of this study was to investigate the psychometric properties of the Turkish version of the Perception of Aggression Scale. Cross-sectional data were collected by the completion of questionnaires by 350 nursing students from two nursing schools in Istanbul, Turkey. The psychometric properties of the Turkish version of the scale were analysed by using factor analysis (principal component analysis), assessment of internal consistency and reliability, and Spearman's rank correlation coefficients. The two-factor structure was confirmed by principal component analysis: the first factor treated aggression as functional and the second as dysfunctional. The correlation between the means of the items and dimensions was moderate (r for factor 1: 0.47-0.73; r for factor 2: 0.29-0.70). The coefficient of internal consistency of the scale was 0.85 for factor 1 and 0.81 for factor 2. Thus, Turkish version of Perception of Aggression Scale is a valid and reliable tool. It is essential to understand perceptions of aggressive behaviour in order to establish effective management strategies to tackle untoward events in clinical settings.

Clinical and prognostic features of patients with pandemic 2009 influenza A (H1N1) virus in the intensive care unit.

OBJECTIVE: To investigate the clinical and prognostic features of patients admitted to intensive care unit (ICU) with pandemic 2009 influenza A (H1N1) virus. METHODS: Patients admitted to the intensive care unit for severe pneumonia associated with pandemic 2009 influenza A (H1N1) virus were evaluated. RESULTS: The study included 20 patients with the mean age of 36±13. Of the 20 subjects, 17 (85%) had underlying conditions. Of the 20 patients, 11(55%) were discharged and 9 (45%) died. Cardinal symptoms were fever, myalgia, and hemoptysis with the rates of 85 %, 75 % and 45 %, respectively. All patients had pneumonic infiltrations in their chest roentgenograms. Main laboratory findings were lymphopenia, high creatin phosphokinase (CPK) and Lactate dehydrogenase (LDH) levels. All patients had positivity on real time reverse transcription-polymerase chain reaction (RT-PCR). None of the patients had pandemic 2009 influenza A (H1N1) virus vaccination. None of them had taken oseltamivir within 48 hours. Main reasons for mortality were cardiovascular complications and ventilatory associated pneumonia due to Acynetobacter baumannii. CONCLUSION: Early diagnosis and antiviral treatment in these cases seem to be the best approach to avoid serious illness. Special attention should be given to patients having underlying conditions such as cardiovascular and pulmonary diseases and pregnancy.

Minimally invasive awake craniotomy using Steiner-Lindquist stereotactic laser guidance.

INTRODUCTION: Awake craniotomy permits the continuous assessment of intraoperative neurological functions. In addition, stereotactic laser guidance aids in performing minimally invasive procedures related to the radical resection of lesions located in eloquent and non-eloquent brain regions. METHODS: Between May 2000 and October 2006, 117 consecutive patients with various intracranial tumoral lesions underwent 141 resection procedures. The eloquent areas were determined with the aid of anatomic landmarks and/or functional MRI (fMRI) examinations. The resection of the lesions was performed under continuous neurological examination. In all cases, postoperative MRI was performed within 24-72 h. RESULTS: Seventy-seven males and 40 females were included in this study. The mean age of the patients was 52.0+/-12.6 years. Most of the lesions were located within the parietal lobe. Of the lesions, 33 (23.4%) were located within the cortex, whereas 108 (76.5%) were subcortical. The most common pathologies were metastasis (70 cases) and glioblastome multiforme (27 cases). In 20 (14.2%) of the patients, fMRI was performed preoperatively. Of 21 patients with multiple lesions, 18 underwent 2 craniotomies and 3 underwent 3 craniotomies. The mean operation time was 72+/-0.3 min, and the mean hospital stay was 3.26+/-1.82 d. The average lesion size was 11.92+/-15.26 cm(3). In 7 cases (4.9%), the surgery caused either new neurological deficits or a worsening of the existing deficits; these deficits were permanent in 2 (1.4%) cases. One patient (0.7%) died due to the development of postoperative intracerebral hemorrhage. CONCLUSIONS: Awake craniotomy with the aid of stereotactic laser guidance is a safe procedure that assists in performing minimally invasive resection of lesions in eloquent and non-eloquent brain regions. Although direct intraoperative stimulation was not performed, detection of the functioning areas of the brain with fMRI decreased additional postoperative neurological deficits. Overall, this method decreased the operation time and hospital stay.

Role of ghrelin in the regulation of gastric acid secretion involving nitrergic mechanisms in rats.

Ghrelin, an endogenous ligand for growth hormone secretagogue receptor (GHS-R), has been identified in the rat and human gastrointestinal tract. Ghrelin has been proposed to play a role in gastric acid secretion. Nitric oxide (NO) was shown as a mediator in the mechanism of ghrelin action on gastric acid secretory function. However, there is a little knowledge about this topic. We have investigated the role of ghrelin in gastric acid secretion and the role of NO as a mediator. Wistar albino rats were used in this study. The pyloric sphincter was ligated through a small midline incision. By the time, saline (0.5 ml, iv) was injected to the control group, ghrelin (20 microg/kg, iv) was injected to the first experimental group, ghrelin (20 microg/kg, iv) + L-NAME (70 mg/kg, sc) was injected to the second group and L-NAME (70 mg/kg, sc) was administered to the third group. The rats were killed 3 h after pylorus ligation; gastric acid secretion, mucus content and plasma nitrite levels were measured. Exogenous ghrelin administration increased gastric acid output, mucus content and total plasma nitrite levels, while these effects of ghrelin were inhibited by applying L-NAME. We can conclude that ghrelin participates in the regulation of gastric acid secretion through NO as a mediator.

Tracheal intubation using the ILMA, C-Trach or McCoy laryngoscope in patients with simulated cervical spine injury.

A study of 90 patients was undertaken to compare intubation success rates of using either ILMA, C-Trach or McCoy laryngoscope in patients with simulated cervical spine injury. Insertion and intubation success rates, time taken to achieve intubation, airway complications and haemodynamic parameters were recorded. Insertion of ILMA and C-Trach was successful at the first attempt in all patients. Intubation success rates were higher in the C-Trach (100%) and McCoy (100%) groups than in the ILMA (87%) group. Total intubation time was significantly longer in the ILMA (63 s, SD 36.5) group than in the C-Trach (41 s, SD 15.8) and McCoy (30 s, SD 7.4) groups (p < 0.05, p < 0.05, respectively). There were no significant differences in haemodynamic parameters among the groups at any time.

Secondary insults during intrahospital transport of neurosurgical intensive care patients.

Secondary insults occurring after injury have been prospectively assessed in seven head-injured patients who required intrahospital transfer to a computerized tomography unit for re-evaluation of their brain injury. During transportation the intracranial pressure, blood pressure, and arterial blood gases were monitored. A significant increase in intracranial pressure was observed during transport (p < 0.01). The conclusion is that patients should be ventilated and have appropriate sedation and analgesia. This could provide some protection against secondary insults.

Screening tests for predicting difficult intubation. A clinical assessment in Turkish patients.

Three methods of predicting difficult intubation were compared prospectively. Mallampati test, Wilson risk-sum and thyromental distance were determined preoperatively and laryngeal views were graded in 500 patients. The sensitivities, specificities, positive and negative predictive values of each test were calculated. The incidence of difficult intubation was found to be 8%. The sensitivities of the Mallampati test, the Wilson risk-sum and the thyromental distance were 43%, 58% and 35% respectively, and the specificities were 93%, 91% and 95% respectively. Significant differences were seen between the sensitivities of the Mallampati test and the Wilson risk-sum (P < 0.001), the Wilson risk-sum and the thyromental distance (P < 0.001), the Mallampati test and the thyromental distance (P < 0.05). Among the different specificities, the only significant difference was observed between the Wilson risk-sum and the thyromental distance (P < 0.05). There were no significant differences between the positive and negative predictive values of the three screening tests (P > 0.05). In conclusion, the Wilson risk-sum was the most sensitive test and the thyromental distance has the highest positive predictive value for difficult intubation.

Methemoglobinemia induced by methylene blue pertubation during laparoscopy.

Methylene blue is used to check tubal patency during laparoscopy. A case of methemoglobinemia which was induced by methylene blue is presented. Methemoglobinemia is usually treated with methylene blue; however, in patients with glucose-6-phosphate dehydrogenase deficiency, methylene blue can induce methemoglobinemia.

Complications of 1303 central venous cannulations.

Central venous catheterization (CVC), now a common procedure, has several major complications. We assessed their incidence in a prospective study of 1303 cannulations done in the intensive care unit or operating theatre. Chest radiographs were obtained to verify proper catheter placement and to detect pneumothorax. Complications were arterial puncture in 68 (5.2%) patients, arrhythmias in 21 (1.6%), cardiopulmonary arrest in 1 (0.1%), and pneumothorax in 5 (0.5%). The tip of the CVC was incorrectly located in 149 (11.2%). The chest radiograph was a valuable method for detecting complications of central venous catheterization.

Temporal bone study of Down's syndrome.

OBJECTIVE: To study temporal bone histopathologic characteristics of the inner ear and middle ear cleft of patients with Down's syndrome. DESIGN: Sixteen temporal bones from eight patients with Down's syndrome were studied. Ten temporal bones from subjects without pathologic ear lesions but with congenital heart disease served as controls. The two-dimensional graphic reconstruction method proposed by Guild and modified by Schuknecht was used to study the cochleas; measurement of the vestibules was based on Igarashi's method. SETTING: The temporal bone collection of the Otitis Media Research Center, Department of Otolaryngology, University of Minnesota School of Medicine, Minneapolis. RESULTS: Six bones showed short cochlea, and four of six had Mondini's cochlea. The overall cochlear lengths in this study group were notably shorter than those of the controls. The spiral ganglion cell population and two of three vestibular dimensions also were notably less than the controls. Middle ear findings included residual mesenchyme, stapes abnormality, otitis media, and large facial canal dehiscence. CONCLUSIONS: The difficulties encountered in rehabilitation of patients with Down's syndrome caused by mental retardation can be compounded by the hearing loss caused by middle and inner ear abnormalities. A complete evaluation of hearing loss and therapy before starting the rehabilitation gives the most favorable outcome.