Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

In two large Turkish consanguineous families, a locus for autosomal recessive nonsyndromic hearing loss (ARNSHL) was mapped to chromosome 6p21.3 by genome-wide linkage analysis in an interval overlapping with the loci DFNB53 (COL11A2), DFNB66, and DFNB67. Fine mapping excluded DFNB53 and subsequently homozygous mutations were identified in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene, also named tetraspan membrane protein of hair cell stereocilia (TMHS) gene, which was recently shown to be mutated in the "hurry scurry" mouse and in two DFNB67-linked families from Pakistan. In one family, we found a homozygous one-base pair deletion, c.649delG (p.Glu216ArgfsX26) and in the other family we identified a homozygous transition c.494C>T (p.Thr165Met). Further screening of index patients from 96 Turkish ARNSHL families and 90 Dutch ARNSHL patients identified one additional Turkish family carrying the c.649delG mutation. Haplotype analysis revealed that the c.649delG mutation was located on a common haplotype in both families. Mutation screening of the LHFPL5 homologs LHFPL3 and LHFPL4 did not reveal any disease causing mutation. Our findings indicate that LHFPL5 is essential for normal function of the human cochlea.     

Headache prevalence in adolescents aged 12 to 17: a student-based epidemiological study in Bursa

BACKGROUND AND OBJECTIVES: The objective of this study was to investigate the prevalence and sociodemographic characteristics of headaches among Turkish adolescents aged 12 to 17 years old in Bursa province of Turkey. METHODS: A multistep, stratified, cluster sampling method was used for subject selection. The estimated sample size for 12- to 14-year-old students was 1,270 and for 15- to 17-year-old students was 1,117. Our study sample included 6.5% of the secondary schools and 1.8% of the students aged 12 to 17 years old. The study was conducted in two phases; the questionnaire phase and the face-to-face interview phase. RESULTS: The prevalence of recurrent headache in the study population was 52.2%. Girls (59.8%) had significantly more recurrent headache than boys (45.1%) The prevalence of recurrent headache increased from 42.2% up to 60.7% by age. In multivariate logistic regression analysis age and gender differed significantly between adolescents with and without recurrent headache groups. Frequent episodic tension-type headache was the most common (25.9%) headache among Turkish adolescents, followed by migraine (14.5%). CONCLUSIONS: Age and gender appeared to be demographic factors increasing adolescent headache prevalence. Frequent episodic-tension type headache was the most common headache followed by migraine. Our migraine prevalence was slightly higher than most of the previously reported prevalence rates. This might be due to the new classification criteria of headache released by International Headache Society.     

Childhood asthma and its relationship with tonsillar tissue

The aim of this study was to evaluate the prevalence of asthma among 4-17 years old school children and to determine the relationship between frequent tonsillitis, tonsillar hypertrophy and asthma-related symptoms. A total of 2,000 school children, aged 4-17 years, in Denizli were surveyed using the ISAAC questionnaire; the size of the tonsils was evaluated by physical examination. A total of 1,784 questionnaires were completed giving an overall response rate of 89.2%. The prevalence of lifetime wheezing, 12-month wheezing and lifetime doctor-diagnosed asthma were 16.4%, 6.2% and 1.7%, respectively. The prevalence of frequent tonsillitis and tonsillar hypertrophy were 19.9% and 3.4%, respectively. Tonsillar hypertrophy was positively correlated with a history of frequent tonsillitis. Frequent tonsillitis and tonsillar hypertrophy could be evaluated as risk factors for asthma due to their significant association with asthma-related symptoms.     

Asthma knowledge level of primary schoolteachers in Istanbul, Turkey

The purpose of this study was to elucidate the asthma knowledge level of primary school teachers in Istanbul, and factors associated with this subject. Seven hundred and ninety-two teachers from 73 randomly selected primary schools in Istanbul were included in this study. Although Istanbul primary school teachers generally have a satisfactory knowledge on asthma, they lack knowledge on triggers of asthma attacks and on the management of the disease. The knowledge level of the teachers was related to gender but was not related to age, education level, length of tenure, location of primary school and county. We think that an asthma education program is needed for Turkish teachers to increase their understanding about what asthma is, its impact and how to meet the needs of a child with asthma to achieve improved wellbeing and school attendance.     

Prevalence of epilepsy in Bursa city center, an urban area of Turkey

PURPOSE: The aim of this study was to determine the prevalence of epilepsy in the central district of Bursa, located in the western part of Turkey. The method used in this study was determined according to the recommendations of the World Health Organization (WHO) on prevalence research in developing countries. METHODS: In total, 2116 individuals were interviewed between September 1, 2004, and February 1, 2005. The sample group was selected from people living in the central district of Bursa, according to the stratified sampling method with regard to socioeconomic class, age, and sex. Neurology residents using standard questionnaires and semistructured interviews carried out face-to-face interviews. RESULTS: Of the 199 presumptive cases detected in the initial interview, 26 (11 female, 15 male subjects) received the diagnosis of epilepsy on the day of assessment. Prevalence of active epilepsy was 8.5 per 1000, and lifetime prevalence was 12.2 per 1000 in the central district of Bursa. Classification of the epileptic seizures revealed that 30.7% of the patients had partial and 65.3% had generalized seizures; seizures could not be classified in 3.8%. The seizures had begun during the first decade of life in 50% of the cases, and 34.6% have been using regular medications. CONCLUSIONS: Prevalence studies in our country are scarce; thus further research including different regions and multiple centers is needed. Addition of questions suitable to the Turkish social structure to the standard questions determined by WHO may be beneficial for practitioners in considering the diagnosis of epilepsy and referring these patients to specialized centers.     

Use of an automated bolus calculator in MDI-treated type 1 diabetes: the BolusCal Study, a randomized controlled pilot study

OBJECTIVE

To investigate the effect of flexible intensive insulin therapy (FIIT) and an automated bolus calculator (ABC) in a Danish type 1 diabetes population treated with multiple daily injections. Furthermore, to test the feasibility of teaching FIIT in a 3-h structured course.

RESEARCH DESIGN AND METHODS

The BolusCal Study was a 16-week randomized, controlled, open-label, three-arm parallel, clinical study of 51 adults with type 1 diabetes. Patients aged 18–65 years in poor metabolic control (HbA_1c 8.0–10.5%) were randomized to the Control (n = 8), CarbCount (n = 21), or CarbCountABC (n = 22) arm. During a 3-h group teaching, the Control arm received FIIT education excluding carbohydrate counting. CarbCount patients were taught FIIT and how to count carbohydrates. CarbCountABC group teaching included FIIT and carbohydrate counting and patients were provided with an ABC.

RESULTS

At 16 weeks, the within-group change in HbA_1c was −0.1% (95% CI −1.0 to 0.7%; P = 0.730) in the Control arm, −0.8% (−1.3 to −0.3%; P = 0.002) in the CarbCount arm, and −0.7% (−1.0 to −0.4%; P < 0.0001) in the CarbCountABC arm. The difference in change in HbA_1c between CarbCount and CarbCountABC was insignificant. Adjusting for baseline HbA_1c in a regression model, the relative change in HbA_1c was −0.6% (−1.2 to 0.1%; P = 0.082) in CarbCount and −0.8% (−1.4 to −0.1%; P = 0.017) in CarbCountABC. Treatment satisfaction measured by the Diabetes Treatment Satisfaction Questionnaire (status version) improved in all study arms, but the improvement was significantly greater in CarbCountABC.

CONCLUSIONS

FIIT and carbohydrate counting were successfully taught in 3 h and improved metabolic control and treatment satisfaction. Concurrent use of an ABC improved treatment satisfaction further.The importance of near normalization of blood glucose (BG) in preventing microvascular long-term complications of diabetes was demonstrated in the Diabetes Control and Complications Trial (1). In the trial, strict glycemic control was achieved by flexible intensive insulin therapy (FIIT) with multiple daily insulin injections adjusted according to BG, carbohydrate intake, and exercise to mimic insulin secretion in healthy individuals. The therapy was closely supervised by the health care team and, although effective, the therapy was caregiver-dependent and resource demanding. For >3 decades, a patient-empowering approach to FIIT has been practiced in Germany (2). The concept includes a 5-day structured program in which patients are taught to practice FIIT and to handle minor metabolic derangements themselves. Over the years, the approach has been adapted in several other countries (3–7). The DAFNE (Dose Adjustment for Normal Eating) Study Group in the U.K. performed the first randomized study testing the efficacy of the approach and documented significant improvements in glycemic control and diabetes-related quality of life (3). The group recently has reported sustained benefit of the teaching program after 44 months (8).In Denmark, national guidelines published in 2010 recommend FIIT, including the use of carbohydrate counting to all patients with type 1 diabetes (9). This is in line with American Diabetes Association guidelines (10). In many clinics, however, it is yet to be implemented. It is our experience that insulin pump patients adapt well to FIIT, whereas few multiple daily injection (MDI)-treated patients do. This could rely on the different techniques used for bolus estimation by the two groups. The pump users have the advantage of bolus calculator functions integrated in their insulin pump, whereas MDI-treated patients are left with mental calculations or more simple algorithms (11–14). The calculations can be somewhat complicated, especially when the premeal BG is out of the desired range.A BG meter with an integrated bolus calculator function (Accu-Chek Aviva Expert; Roche Diagnostics, Mannheim, Germany) recently was launched, offering MDI-treated patients the same advantages as pump patients. We hypothesized that a Danish type 1 diabetic population in poor metabolic control would achieve better metabolic control, treatment satisfaction, and quality of life from FIIT and that the benefits could be further improved with the concurrent use of the Accu-Chek Aviva Expert automated bolus calculator (ABC). The BolusCal Study was a pilot study testing these hypotheses and the feasibility of teaching the principles of FIIT during a 3-h structured course.     

Serum Pentraxin 3 level as a recent biomarker of diabetic retinopathy in Egyptian patients with diabetes

IntroductionSerum Pentraxin3 Level As A recent Biomarker Of Diabetic Retinopathy In Egyptian patients with diabetes.ObjectiveTo evaluate the association between elevated levels of plasma pentraxin 3 and the development and/or progression of diabetic retinopathy.Subjectsand methods: This case control study was carried out in internal medicine department, outpatient clinic of internal medicine and outpatient clinic of ophthalmology, at Zagazig university Hospital, 2018. Serum PTX3 level, HsCRP, HbA1c, lipid profile, serum creatinine were determined in 20 normal subjects, 20 patients with prediabetes, 20 patients with diabetes without diabetic retinopathy (DR), 20 patients with non-proliferative diabetic retinopathy (NPDR) and 20 patients with proliferative diabetic retinopathy (PDR).ResultsSerum PTX3 level significantly increased in patients with DR more than patients without DR with cut off point 1150 pg/ml, sensitivity 93.3%and specificity 72%. Serum HsCRP level significantly increased in patients with DR more than patients without DR with cut off point of 7.60 pg/ml has sensitivity 93.3% and specificity 68%.. Combined use of PTX3 and HsCRP decreases sensitivity to 76.7%, but combined use increases specificity to 90%.Significant relation between poor glycemic control and development of DR and its severity as showed by HbA1c.ConclusionSerum PTX3 levels mayt have significant role in the development of DR and its severity. Serum HsCRP increased with DR progression. Poor glycemic control significantly associated with high incidence of diabetic retinopathy and its severity. Longer diabetes duration is associated with progression of DR.     

Comparison of bupivacaine alone and in combination with sufentanil in patients undergoing arthroscopic knee surgery

Purpose  

One disadvantage of spinal anesthesia using bupivacaine is the relatively short duration of action. Combining it with opioids can increase its analgesic effects. It was aimed to analyze the effectiveness and the side effects of bupivacaine alone and in combination with sufentanil in arthroscopic knee surgery during unilateral spinal anesthesia.