Do single-session Epley maneuvers treat benign paroxysmal positional vertigo?

BACKGROUND: Benign paroxysmal positional vertigo (BPPV) is the most common peripheral vestibular condition characterized by short-term vertigo attacks that significantly affect quality of life. OBJECTIVES: Examine how well a single Epley maneuver worked in an outpatient setting for people with posterior canal benign paroxysmal positional vertigo (PC-BPPV) and whether they needed a second Dix-Hallpike maneuver. DESIGN: Prospective. SETTINGS: Otorhinolaryngology department of a tertiary care center. PATIENTS AND METHODS: Sociodemographic data, body mass index (BMI), and systemic disease history of 75 patients diagnosed with PC-BPPV were recorded, and their relationship with success rates after the modified Epley maneuver was analyzed. MAIN OUTCOME MEASURES: Detect cases that could not be repositioned with the diagnostic control Dix-Hallpike test performed 20 minutes after the modified Epley reposition maneuver in the same session in PC-BPPV patients. SAMPLE SIZE: 75. RESULTS: Of the 75 patients, 31 were male (41.3%), 44 female (58.6%) with a mean (standard deviation) age of 58.6 (15.9) years age, 54.6% had one or more chronic diseases. BMI was 30 mg/kg2 and above in 31 patients (41.3%). The modified Epley maneuver was successful in 77.3%. No significant relationship was found between additional diseases or BMI in the patient group in whom the maneuver was unsuccessful. CONCLUSION: The success rates of repositioning maneuvers in treating patients diagnosed with PC-BPPV are high. However, more than a single maneuver is required in some resistant patients. Second diagnostic and repositioning maneuvers performed in the same session will reduce multiple hospital admissions. While it is helpful to repeat the maneuver in the patient group where it was unsuccessful, other factors causing the failure should be investigated. LIMITATIONS: Lack of follow-up results of patients after 7-10 days.

Online Training or Face-to-Face Training from the Perspective of Ear, Nose, and Throat and Head and Neck Surgeons?

PURPOSE: To determine the preferences of Ear, Nose, and Throat (ENT) and Head-Neck Surgery (HNS) specialists and residents undergoing training for online or face-to-face training and the factors affecting the preference. METHODS: An 16-item questionnaire was created using Google Forms and was administered to residents undergoing training in ENT departments and to specialists working in the same field. The questionnaires were distributed online and requested to be completed between August and October 2020. The study participants were analyzed in two groups according to the preference for online training or face-to-face training. RESULTS: Evaluation was made of a total of 173 participants, as 68 (39.3%) in online training, and 105 (60.7%) in face-to-face training. Online training comprised 47 (69.1%) females and 21 (30.9%) males with a mean age of 38.9 ± 8years and face-to-face training comprised 68 (64.8%) females and 37 (35.2%) males with a mean age of 37.9 ± 7.5years (gender: P = 0.55, age: P = 0.10). Of the total sample, 39 (22.5%) subjects were single and 134 (77.5%) were married. Face-to-face training was preferred by 61.2% of the married respondents and by 59% of those who were single. While 43.4% stated that visuals and documents were similar in both forms of training, those who stated that documentation was better in face-to-face training constituted 90.2% of the group that preferred face-to-face training (P = 0.0001). Of the total participants, 65.4% stated that concentration was easier in face-to-face training (P = 0.0001). When the groups were compared according to areas of interest, more of those involved in rhinology and head-neck surgery were in face-to-face training, and those with an interest in otology were seen to be in online training (P = 0.002). A wish to continue online training after the pandemic was expressed by 80.9% of the whole sample, and 68.6% wished to continue with face-to-face training (P = 0.0001). Hybrid meetings were determined to have been selected by 86.1% (P = 0.0001). CONCLUSION: Online web seminars have an important role as a teaching and learning tool. There is a need for further research to evaluate how these clinically focused seminars can be presented at high quality and how they can provide benefit in training.

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum. Moreover, this is the first study to present newborn screening findings and mid-term clinical outcome. In this cross-sectional study, patients with a diagnosis of BCKDK deficiency were recruited via investigators' practices through a MetabERN initiative. Clinical, biochemical and genetic data were collected. Dried blood spot (DBS) newborn screening (NBS) amino acid profiles were retrieved from collaborating centres and compared to a healthy newborn reference population. Twenty-one patients with BCKDK mutations were included from 13 families. Patients were diagnosed between 8 months and 16 years (mean: 5.8 years, 43% female). At diagnosis, BCAA levels (leucine, valine and isoleucine) were below reference values in plasma and in CSF. All patients had global neurodevelopmental delay; 18/21 had gross motor function (GMF) impairment with GMF III or worse in 5/18, 16/16 intellectual disability, 17/17 language impairment, 12/17 autism spectrum disorder, 9/21 epilepsy, 12/15 clumsiness, 3/21 had sensorineural hearing loss and 4/20 feeding difficulties. No microcephaly was observed at birth, but 17/20 developed microcephaly during follow-up. Regression was reported in six patients. Movement disorder was observed in 3/21 patients: hyperkinetic movements (1), truncal ataxia (1) and dystonia (2). After treatment with a high-protein diet (≥ 2 g/kg/day) and BCAA supplementation (100-250 mg/kg/day), plasma BCAA increased significantly (P < 0.001), motor functions and head circumference stabilized/improved in 13/13 and in 11/15 patients, respectively. Among cases with follow-up data, none of the three patients starting treatment before 2 years of age developed autism at follow-up. The patient with the earliest age of treatment initiation (8 months) showed normal development at 3 years of age. NBS in DBS identified BCAA levels significantly lower than those of the normal population. This work highlights the potential benefits of dietetic treatment, in particular early introduction of BCAA. Therefore, it is of utmost importance to increase awareness about this treatable disease and consider it as a candidate for early detection by NBS programmes.

Prenatal diagnosis of abnormality of the umbilical portal DV complex: difficulty in universal classification due to various alternative routes in hepatic circulation for placental drainage.

OBJECTIVE: To review our experience with fetal abnormality of the umbilical-portal-DV complex and to discuss the new classification system for umbilical portal systemic venous shunts (UPSVS) according to our cases. METHODS: This study was a retrospective analysis of fetuses with a prenatal diagnosis of abnormality of the umbilical-portal-DV complex. The integrity of the fetal umbilical-portal ductus venosus complex and the hepatic venous system were evaluated using two-dimensional color Doppler sonography. The origin of the shunt, the location of the drainage, and the presence or absence of intrahepatic portal venous system and DV were noted. RESULTS: 35 cases of abnormality of the umbilical-portal-DV complex were identified. Agenesis of ductus venous was detected in 33 of them. Based on the abnormality of the umbilical-portal-DV complex, we divided the cases into five groups. Group 1, ductus venosus agenesis with normal hepatic venous anatomy (n = 11); Group 2 downward displacement of the umbilical-portal-DV complex (n = 13); Group 3, umbilical-systemic shunt (n = 5); Group 4, intrahepatic portosystemic shunt (n = 4), Group 5, hepatic arteriovenous malformation (n = 2). Three different intrahepatic portosystemic shunt and one different downward displacement of the umbilical-portal-DV complex cases were detected. CONCLUSIONS: Disruption of the normal anatomy of the umbilical-portal-DV complex causes various alternative pathway of the placental drainage. This illustrates highlights the challenge of creating a universal classification.

Determination of Accurate Position of Umbilical Venous Catheters in Premature Infants.

OBJECTIVE: The aim of the study is to determine the most accurate length and position of umbilical venous catheter (UVC). STUDY DESIGN: This prospective study included premature infants who were admitted to the neonatal intensive care unit with inserted UVC between January 1, 2014 and December 31, 2015. The length of UVC was calculated according to the Shukla formula [(3 × birth weight + 9)/2 + 1] and the catheter was inserted under sterile conditions. After the insertion, umbilical catheter was first evaluated through chest X-ray and then with echocardiography to confirm its position. Catheters seen on the chest X-ray at the level of T9-T10 vertebrae were classified as "accurate position," those seen above T9 vertebra as "high position," and the catheters identified below T10 vertebra were classified as "low position." RESULTS: A total of 68 infants smaller than 36 weeks of gestation were included in the study. In echocardiographic evaluation, 80% of the cases identified as in the "accurate position," 100% of the cases classified as in a "high position," and 33% of the cases defined as in a "low position" on the chest X-rays were found to be intracardiac. In our study, length of the catheter calculated according to the Shukla formula was intracardiac in 88.2% of premature infants. CONCLUSION: Radiography alone is not sufficient for the determination of adequate position of umbilical catheter, especially in premature infants. Specialists practicing in neonatal intensive care units could improve themselves and evaluate UVC with echocardiography, making this a routine part of clinical practice. Echocardiography-guided fixation of the catheter will reduce the complications related to catheter malposition. KEY POINTS: · Shukla formula is commonly used to calculate the adequate length of UVC.. · Chest X-ray is the most widely used modality for locating the tip of UVC.. · Echocardiography can be conveniently used for the determination of adequate position of UVC..

Double Extrahepatic Biliary Duct.

We report a 39-year-old male patient diagnosed with double extrahepatic biliary ducts by magnetic resonance cholangiopancreatography. Respiratory-triggered 3-dimensional magnetic resonance cholan - giopancreatography was performed during free breathing. Two extrahepatic biliary ducts, an anomalous union of accessory extrahepatic biliary duct with pancreatic duct, and a unique com - munication channel between 2 extrahepatic biliary ducts were determined on maximum intensity projection and 3-dimensional magnetic resonance cholangiopancreatography volume rendering. This case illustrates the utility of 3-dimensional magnetic resonance cholangiopancreatography for diagnosis of pancreatobiliary ductal system developmental anomalies. Also, we reviewed embryology of the hepatobiliary system and the current classifications of the double extrahepatic biliary ducts and have proposed a new variant of existing classifications.

Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis.

OBJECTIVES: Non-alcoholic fatty liver disease (NAFLD) is a common obesity-related comorbidity in childhood. In this study, we aimed to evaluate predictors of NAFLD by comparing clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis. METHODS: Two hundred and eight obese children aged 6-18 years were included. The patients were divided into group 1 (patients with NAFLD, n=94) and group 2 (patients without NAFLD, n=114). Anthropometric measurements, pubertal stage, lipid profiles, fasting glucose and insulin, homeostatic model of assessment for insulin resistance (HOMA-IR), uric acid, total bilirubin, alanine aminotransferase (ALT), blood urea nitrogen, thyroid-stimulating hormone and free thyroxine parameters were compared retrospectively. RESULTS: The mean body weight, body mass index (BMI), height, tri-ponderal mass index (TMI), insulin, HOMA-IR, triglyceride, ALT and uric acid values were significantly higher, while high-density lipoprotein-cholesterol (HDL-C) values were significantly lower in group 1. The 70.7% of obese children with hepatosteatosis and 83.9% of those without hepatosteatosis were correctly estimated by parameters including age, gender, ALT, HDL-C, fasting insulin and uric acid values. CONCLUSIONS: Since obesity-associated hepatosteatosis induces various long-term metabolic impacts in children, early detection is of critical importance. Age, gender, TMI, BMI, ALT, HDL-C, fasting insulin and uric acid values may help to predict the risk of hepatosteatosis. Besides, we assessed whether TMI compared to BMI does not have a better utility in estimating obesity-induced hepatosteatosis in children. This is the first study to show the association between TMI and hepatosteatosis in children.

Clinical Importance of Main Portal Vein and Right Portal Vein Variations: A Prevalence Study With 128-Slice Multidetector Computed Tomography.

OBJECTIVES: The portal vein variation type significantly affects the outcome of transplant surgery, hepatectomies, and interventional radiological procedures. To reveal variation types, especially rare types, we used high-technology multidetector computed tomography. MATERIALS AND METHODS: We evaluated multiphase abdominal multidetector computed tomography scans of 278 consecutive patients. Multidetector computed tomography scans were processed for axial, coronal, and axial-oblique multiplane reformation and for maximum intensity projection. Variations of the main portal vein and right portal vein were simulta-neously analyzed by 2 radiologists. Prevalence of each variation and differences in sexes were investigated. RESULTS: Variant anatomy was detected in 29.5% of main portal veins and 20.9% of right portal veins. There was no statistical difference between sexes. Type 3 was reported as the most frequent variant of main portal vein, whereas type 4 was the most frequent variant of right portal vein. Some miscellaneous types were also ascertained. CONCLUSIONS: Different types of anatomic variations may adversely affect the course of surgery and interventional radiological procedures. Fortunately, radiologists can now discover the critical types by using the new generation multidetector computed tomography with 3-dimensional reconstruction techniques. This information should be included in the radiology reports of patients who are scheduled for major surgery.

Lipid accumulation product is a predictor of nonalcoholic fatty liver disease in childhood obesity.

BACKGROUND: Lipid accumulation product (LAP) is associated with the presence and severity of nonalcoholic fatty liver disease (NAFLD) in adults. PURPOSE: Here we evaluated the ability of LAP to predict NAFLD in obese children. METHODS: Eighty obese children (38 girls; age 6-18 years) were included. Anthropometric measurements and biochemical values were obtained from the patients' medical records. LAP was calculated as [waist circumference (WC) (cm) - 58]×triglycerides (mmol/L) in girls; [WC (cm) - 65]×triglycerides (mmol/ L) in boys. The minLAP and adjLAP were described (3% and 50% of WC values, respectively) and the total/high-density lipoprotein cholesterol index (TC/HDL-C) was calculated. NAFLD was observed on ultrasound, and patients were divided into 3 groups by steatosis grade (normal, grade 0; mild, grade 1; moderate-severe, grade 2-3). The area under the curve (AUC) and appropriate index cutoff points were calculated by receiver operator characteristic analysis. RESULTS: LAP was positively correlated with puberty stage (rho=0.409; P<0.001), fasting insulin (rho= 0.507; P<0.001), homeostasis model assessment of insulin resistance (rho=0.470; P<0.001), uric acid (rho=0.522; P<0.001), and TC/HDL-C (rho=0.494; P<0.001) and negatively correlated with HDL-C (rho=-3.833; P<0.001). LAP values could be used to diagnose hepatosteatosis (AUC=0.698; P=0.002). The LAP, adjLAP, and minLAP cutoff values were 42.7 (P=0.002), 40.05 (P=0.003), and 53.47 (P= 0.08), respectively. For LAP, the differences between the normal and mild groups (P=0.035) and the normal and moderate-severe groups were statistically significant (P=0.037), whereas the difference between the mild and moderate-severe groups was not (P>0.005). There was a statistically significant difference between the normal and mild groups for adjLAP (P=0.043) but not between the other groups (P>0.005). There was no significant intergroup difference in minLAP (P>0.005). CONCLUSION: LAP is a powerful and easy tool to predict NAFLD in childhood. If LAP is ≥42.7, NAFLD should be suspected. This is the first study to assess LAP diagnostic accuracy for childhood obesity.

Evaluation of Olfactory Sensation, Acoustic Rhinometry, and Quality of Life of the Patients With Nasal Septal Deviation.

OBJECTIVES: Nasal septum deviations are deformities that occur in the cartilage and bones of the septum. The aim of the present study is to evaluate the patients with septum deviation according to the acoustic rhinometry measurements in terms of changes in smell function and the effects on quality of life. METHODS: Twenty patients with septum deviation between the ages18 to 75 years old and 20 subjects without septum deviation were included in the study. Control group consisted of the 20 subjects with no septal deviation. After ENT examinations, acoustic rhinometry measurements, the SF-36 quality of life scale, and the Brief Smell Identification Tests were applied to all patients. Type of septum deviation is classified according to Mladina classification by anterior rhinoscopy examination, nasal endoscopy, and paranasal computed tomography. RESULTS: The study indicated that the most common deviation type was Mladina Type 3 (65%). Bilateral total smell score of the women in the septum straight group is significantly lower than the men in terms of total smell scores by gender (P < 0.05). The total smell score values in septum group were significantly lower than those of the control group (P < 0.05). According to the individual smell values, cinnamon, banana, and soap odors of the septum deviation group were seen to be significantly lower than the septum straight group (P < 0.05). CONCLUSION: The results of the study indicated that olfactory dysfunction occurs in patients with septum deviation. Therefore, treatment of septum deviation is necessary for the improvement of nasal obstruction besides the treatment of the smell dysfunction.

Conus medullaris position in an adult population: analysis of magnetic resonance imaging / Posición del cono medular en una población adulta: análisis con imágenes de resonancia magnética

The objective of this study was to evaluate the variation in position of the conus medullaris (CM) in male and female patients without spinal deformity, to correlate the termination level in magnetic resonance (MR) images of the lumbar spine. 921 patients consisted of 607 men and 314 women were evaluated by MRI. The strength of T1 weighted MRI device was 1.5 Tesla. The patients were in supine position when measured. The termination level of the conus medullaris was recorded in relation to the upper, middle or lower third of the adjacent vertebra and the adjacent intervertebral disc. The patients in our study group were examined for low back pain. The members with spinal deformity were excluded. The distribution of conus medullaris localization was measured to range from T12 to L2-L3. There was a statistically significant difference in the mean conus medullaris position related to gender also a significant difference between increasing age and conus position in female patients. These findings suggest that the distribution of CM location in a large adult population was shown to range from the upper third of T12 to the lower third of L2-L3 disc space both in women and men.

El objetivo de este estudio consistió en evaluar la variación en la posición del cono medular (CM) en pacientes masculinos y femeninos sin deformidad espinal, para correlacionar el nivel de terminación en imágenes de resonancia magnética (RM) de la columna lumbar. Fueron evaluados por RM un total de 921 pacientes, 607 hombres y 314 mujeres. La fuerza ponderada del dispositivo de RM en T1 fue 1,5 Tesla. Los pacientes se ubicaron en posición supina al momento de la medición. El nivel de terminación del cono medular se registró en relación con el tercio superior, medio o inferior de la vértebra adyacente y el disco intervertebral adyacente. Los pacientes de nuestro grupo de estudio fueron examinados por dolor lumbar. Se excluyeron los individuos con deformidad espinal. La distribución de la localización del cono medular se midió, con variaciones entre T12 a L2-L3. Hubo una diferencia estadísticamente significativa en la posición media del cono medular relacionada con el sexo y también una diferencia significativa entre el aumento de la edad y la posición del cono medular en las mujeres. Estos hallazgos sugieren que la distribución de la ubicación del CM en una población adulta se encontró en un rango que se extendió desde el tercio superior de T12 al tercio inferior del espacio discal L2-L3, tanto en mujeres como en hombres.

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

PURPOSE: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES). METHODS: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes. RESULTS: We detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%), and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects. CONCLUSION: We report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371.

Comparison of risk factors for cardiovascular disease in hemodialysis and peritoneal dialysis patients.

OBJECTIVE: In this study, we aimed to compare the cardiovascular risk factors that might be associated with inflammation, atherosclerosis and metabolic syndrome between hemodialysis and peritoneal dialysis patients. METHODS: Fifty hemodialysis and 50 peritoneal dialysis patients who had been receiving dialysis therapy for at least one year were included in the study. Venous blood samples were taken after 12 hours of fasting, and serum glucose, triglyceride, low-density lipoprotein (LDL)-cholesterol, high-density lipoprotein (HDL)-cholesterol, C-reactive protein, fibrinogen and homocysteine levels were measured. The presence of atherosclerotic plaques in the carotid artery was evaluated by carotid Doppler ultrasound. These data were analyzed by Student's t test, the chi-square test and the Mann-Whitney U test, as appropriate. RESULTS: No difference was found between the hemodialysis (n=50) and peritoneal dialysis (n=50) patient groups regarding mean age, gender distribution, body mass index or dialysis duration (p=0.269, 0.683, 0.426, and 0.052, respectively). LDL-cholesterol, fibrinogen and homocysteine levels were significantly higher in peritoneal dialysis patients (p=0.006, 0.001, and 0.002, respectively). In patients with diabetes mellitus (n=17) who were undergoing renal replacement therapy, LDL-cholesterol and fibrinogen levels were significantly higher than in patients without diabetes mellitus who were undergoing renal replacement therapy (p=0.001 and 0.004, respectively). CONCLUSION: In our study, cardiovascular risk factors (especially LDL-cholesterol) were more frequent in peritoneal dialysis patients than in hemodialysis patients.

Comparison of risk factors for cardiovascular disease in hemodialysis and peritoneal dialysis patients

OBJECTIVE:In this study, we aimed to compare the cardiovascular risk factors that might be associated with inflammation, atherosclerosis and metabolic syndrome between hemodialysis and peritoneal dialysis patients.METHODS:Fifty hemodialysis and 50 peritoneal dialysis patients who had been receiving dialysis therapy for at least one year were included in the study. Venous blood samples were taken after 12 hours of fasting, and serum glucose, triglyceride, low-density lipoprotein (LDL)-cholesterol, high-density lipoprotein (HDL)-cholesterol, C-reactive protein, fibrinogen and homocysteine levels were measured. The presence of atherosclerotic plaques in the carotid artery was evaluated by carotid Doppler ultrasound. These data were analyzed by Student’s t test, the chi-square test and the Mann-Whitney U test, as appropriate.RESULTS:No difference was found between the hemodialysis (n=50) and peritoneal dialysis (n=50) patient groups regarding mean age, gender distribution, body mass index or dialysis duration (p=0.269, 0.683, 0.426, and 0.052, respectively). LDL-cholesterol, fibrinogen and homocysteine levels were significantly higher in peritoneal dialysis patients (p=0.006, 0.001, and 0.002, respectively). In patients with diabetes mellitus (n=17) who were undergoing renal replacement therapy, LDL-cholesterol and fibrinogen levels were significantly higher than in patients without diabetes mellitus who were undergoing renal replacement therapy (p=0.001 and 0.004, respectively).CONCLUSION:In our study, cardiovascular risk factors (especially LDL-cholesterol) were more frequent in peritoneal dialysis patients than in hemodialysis patients.

Comparison of insulin resistance in the various stages of chronic kidney disease and inflammation.

OBJECTIVE: In this study, we compared predialysis and dialysis patients with the controls in terms of insulin resistance and evaluated the association with inflammation that is a risk factor for cardiovascular disease. MATERIALS AND METHODS: A total of 134 non-diabetic patients with controls (n=33), predialysis (n=29) and dialysis patient group (n=72) were included in the study. Fasting blood glucose, insulin, C-peptide, albumin, CRP (C-reactive protein) and homocysteine plasma levels were simultaneously analyzed in all the patients. HOMA-IR index was calculated to show existence of insulin resistance. RESULTS: Mean insulin and HOMA-IR index values were found to be higher in the predialysis and dialysis patient groups than in the control group (p=0.019, p=0.014; respectively). When three groups were compared in terms of C-peptide levels; these values were found to be statistically significantly higher in the predialysis patients than in controls (p=0.017) and in the dialysis group than in the predialysis patients and controls (p=0.0001, p=0.0001; respectively). CRP and homocysteine levels were found to be statistically higher (p=0.0001, p=0.0001; respectively), while albumin levels were significantly lower (p=0.0001) in the dialysis patient group. CONCLUSION: In our study, we demonstrated that insulin resistance was higher in patients in the various stages of chronic kidney disease compared to healthy population. We found that insulin resistance, C-peptid and inflammation related cardiovascular risk factors increased.

The relationship between bifidobacteria and allergic asthma and/or allergic dermatitis: a prospective study of 0-3 years-old children in Turkey.

Bifidobacteria are beneficial bacteria for humans. These bacteria are particularly effective at protecting against infectious diseases and modulating the immune response. It was shown that in newborns, the fecal distribution of the colonizing Bifidobacterium species influences the prevalence of allergic diseases. This study aimed to compare the faecal Bifidobacterium species of allergic children to those of healthy children to detect species level differences in faecal distribution. Stool samples were obtained from 99 children between 0 and 3 years of age whose clinical symptoms and laboratory reports were compatible with atopic dermatitis and allergic asthma. Samples were also obtained from 102 healthy children who were similar to the case group with respect to age and sex. Bifidobacteria were isolated by culture and identified at the genus level by API 20 A. In addition, 7 unique species-specific primers were used for the molecular characterization of bifidobacteria. The McNemar test was used for statistical analyses, and p < 0.05 was accepted as significant. Bifidobacterium longum was detected in 11 (11.1%) of the allergic children and in 31 (30.3%) of the healthy children. Statistical analysis revealed a significant difference in the prevalence of B. longum between these two groups (X(2): 11.2, p < 0.001). However, no significant differences in the prevalence of other Bifidobacterium species were found between faecal samples from healthy and allergic children. (p > 0.05). The significant difference in the isolation of B. longum from our study groups suggests that this species favors the host by preventing the development of asthma and allergic dermatitis. Based on these results, we propose that the production of probiotics in accordance with country-specific Bifidobacterium species densities would improve public health. Thus, country-specific prospective case-control studies that collect broad data sets are needed.

Evidence for genotype-phenotype correlation for OTOF mutations.

OBJECTIVES: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. METHODS: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests. RESULTS: Homozygous c.4718T>C (p.Ile1573Thr) mutation was associated with the auditory neuropathy/auditory dys-synchrony (AN/AD) phenotype and with progressive sensorineural hearing loss in four siblings in one family, while homozygous c.4467dupC (p.I1490HfsX19) was associated with severe to profound sensorineural hearing loss without AN/AD in four relatives in another family. Homozygous c.1958delC (p.Pro653LeufsX13) mutation was associated with moderate sensorineural hearing loss without AN/AD in one affected person in an additional family. CONCLUSIONS: The audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation.

Prevalence and antimicrobial susceptibilities of anaerobic bacteria isolated from perforated corneal ulcers by culture and multiplex PCR: an evaluation in cases with keratitis and endophthalmitis.

BACKGROUND: Anaerobic bacteria play an important role in eye infections; however, there is limited epidemiologic data based on the the role of these bacteria in the etiology of keratitis and endophthalmitis. The aim of this re- search is to determine the prevalence of anaerobic bacteria in perforated corneal ulcers of patients with keratitis and endophthalmitis and to evaluate their antimicrobial susceptibilities. METHODS: Corneal scrapings were taken by the ophthalmologist using sterile needles. For the isolation of anaerobic bacteria, samples were inoculated on specific media and were incubated under anaerobic conditions obtained with Anaero-Gen (Oxoid & Mitsubishi Gas Company) in anaerobic jars (Oxoid USA, Inc. Columbia, MD, USA). The molecular identification of anaerobic bacteria was performed by multiplex PCR and the susceptibilities of an- aerobic bacteria to penicillin, chloramphenicol, and clindamycin were determined with the E test (bioMerieux). RESULTS: 51 strains of anaerobic bacteria belonging to four different genuses were detected by multiplex PCR and only 46 strains were isolated by culture. All of them were found susceptible to chloramphenicol whereas penicillin resistance was found in 13.3% of P.anaerobius strains, clindamycin resistance was found in 34.8% of P.acnes and 13.3% of P. anaerobius strains. Additionnaly, one strain of P. granulosum was found resistant to clindamycin, one strain of B. fragilis and one strain of P.melaninogenica were found resistant to penicillin and clindamycin. CONCLUSIONS: Routine analyses of anaerobes in perforated corneal ulcers is inevitable and usage of appropriate molecular methods, for the detection of bacteria responsible from severe infections which might not be deter- mined by cultivation, may serve for the early decision of the appropriate treatment. Taking into account the in- creasing antimicrobial resistance of anaerobic bacteria, alternative eye specific antibiotics effective against anaer- obes are needed to achieve a successful treatment.

Effect of dialysis type on orbital vascular flow in patients with end-stage renal disease.

PURPOSE: To evaluate ocular blood flow dynamics by color Doppler ultrasonography (CDU) in patients with end-stage renal disease (ESRD). Additionally, to investigate the effect of dialysis type on ocular blood flow by comparing the findings of peritoneal dialysis (PD) subjects, hemodialysis (HD) subjects, and healthy controls. MATERIAL AND METHODS: Forty patients (21 HD and 19 PD) and 40 controls were included in the study. CDU and spectral analysis of temporal posterior ciliary artery (TPCA) and central retinal artery (CRA) were performed to evaluate peak systolic flow velocity (PSV), end diastolic flow velocity (EDV), and resistive indices (RIs). Ocular blood flows were examined before and after HD. Post-HD findings were compared with those in PD subjects and healthy controls. RESULTS: PSV and EDV values in CRA and TPCA after HD sessions were found to be significantly decreased when compared with pre-dialysis values. There was no statistically significant difference between the pre-dialysis and post-dialysis RI values of both arteries. Systolic and diastolic blood flows in CRA and TPCA were higher and RI values were lower in PD subjects than in HD and controls. No significant difference was seen between HD subjects and controls. CONCLUSION: After a single HD session, ocular blood flows of patients with ESRD were normalized. But PD subjects show higher systolic and diastolic ocular blood flows than healthy controls, suggesting that HD is more effective than PD for achieving normal ocular blood flow.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, frontal polymicrogyria and gray matter heterotopia are uniformly present, whereas cerebellar dysplasia, ventriculomegaly, and arachnoid cysts are nearly invariant. Despite these striking brain malformations, individuals with CMS generally do not present with significant neurodevelopmental abnormalities, except for hearing loss. Homozygosity mapping and whole-exome sequencing of DNA from affected individuals in eight families (including the family in the first report of CMS) revealed four molecular variations (two single-base deletions, a nonsense mutation, and a canonical splice-site mutation) in the G protein-signaling modulator 2 gene, GPSM2, that underlie CMS. Mutations in GPSM2 have been previously identified in people with profound congenital nonsyndromic hearing loss (NSHL). Subsequent brain imaging of these individuals revealed frontal polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a CMS diagnosis, but no ventriculomegaly. The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the sensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmetric cell divisions during development.