Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey

BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of serum biotinidase activity. We also performed BTD mutation analysis to characterize the genetic profile. RESULTS: Twenty-seven mutations were identified. The most commonly found variants were c.1330G>C (p.D444H), c.1595C>T (p.T532M), c.470G>A (p.R157H), and c.198_104delGCGGCTGinsTCC (p.C33Ffs ) with allele frequencies of 0.387, 0.175, 0.165 and 0.049, respectively. Three novel pathogenic and likely pathogenic variants were identified: p.W140* (c.419G>A), p.S319F (c.956C>T) and p.L69Hfs*24 (c.192_193insCATC). We also identified three mutations reported in just one patient in the past (p.V442Sfs*59 [c.1324delG], p.H447R [c.1340A>G] and p.198delV [c.592_594delGTC]). Although all of the patients were asymptomatic under the treatment of biotin, only one patient, who had the novel c.419G>A homozygous mutation became symptomatic during an episode of acute gastroenteritis with a presentation of ketosis and metabolic acidosis. Among the screened patients, 156 had partial and 47 had profound BD. CONCLUSIONS: We determined the mutation spectra of BD from the southeastern part of Turkey. The results of this study add three more mutations to the total number of mutations described as causing BD

The Success Rates Of Smoking Cessation Methods

International Conference of the American-Thoracic-Society (ATS) -- MAY 15-20, 2015 -- Denver, COWOS: 000377582800388…Amer Thorac So

Analysis of acute adult poisoning in a 6-year period and factors affecting the hospital stay

Case management of adult patients with acute poisoning in a university-based emergency department to determine the factors that affect duration of hospital stay was assessed. In this survey, data were obtained for the period between January 1, 1997 and December 31, 2002 at the emergency department (ED). Case analyses of 2229 patients older than 14 years of age were reviewed. Of all patients, 725 (32.5%) were male, 801 (35.9%) were younger than 20, and 540 (24.2%) were older than 30 years. Mean ages of patients were 29.3±13.2 for the males and 23.8±9.6 for the females (P<.001). During the study, the greatest number of patients were admitted in May (11.0%). Suicidal poisoning was the observed etiology in the majority of cases (76.4%). Moreover, the mortality rate due to poisoning was 3.9%. Drug ingestion was the most frequent means of poisoning (59.0%), followed by pesticides (19.0%). The rate of poisoning with multiple drugs has declined over time, whereas the rate owing to psychoactive drugs has increased markedly. The mean length of hospital stay was 2.9±1.8 days and the proportion of patients who stayed for longer than 2 days was 44.3%. The mean length of hospital stay was longer for males, those older than 30 years, those who had been poisoned unintentionally, and for confused and unconscious patients and those who had arrived to ED more than 2 hours after the event. This study suggests that morbidity for adult patients with poisoning varied by sex, age, and season. Length of hospital stay was affected by sex, age, arrival time to ED, mode of transport, severity of poisoning, and type of agent. ©2005 Health Communications Inc

Effectiveness of diuretic injection on the measurement of differential renal function using Tc-99m DMSA in patients with a dilated renal pelvis

PubMedID: 16237293Aim: The aim of this study was to evaluate the effectiveness of diuretic injection for the measurement of differential renal function (DRF) with technetium-99m dimercaptosuccinic acid (Tc-99m DMSA) scintigraphy in patients with a dilated pelvis. Materials and Methods: A total of 46 patients who were referred for both technetium-99m-L,L-ethylenedicysteine (Tc-99m L,L-EC) and Tc-99m DMSA imaging and found to have a dilated collecting system on Tc-99m EC scintigraphy were studied. Four to 5 hours after intravenous injection of Tc-99m DMSA, imaging was performed in the supine position, and posterior, anterior, left and right lateral, and left and right posterior oblique views were taken. After this study, furosemide was administered intravenously and 30 minutes later, additional images in the anterior and posterior views were obtained. Results: The kidneys were evaluated into 2 groups. Group 1 comprised 12 kidneys that had an obstructive curve pattern on Tc-99m EC scans. Group 2 comprised 34 kidneys that had a nonobstructive dilated renogram curve pattern. DRF of the kidneys in each patient were calculated, and the values obtained from the standard and diuretic DMSA scans were compared with each other for all patients and each group. Considering all the patients, the values of mean DRF on both standard and diuretic DMSA images were 55.4% ± 21.2% and 55.4% ± 21.5%, respectively. There were no significant differences between DRF values of each kidney obtained by the 2 methods. When we compared the DRF values in groups 1 and 2, there were again no significant differences. In group 1, the values of mean DRF on standard and diuretic images were 51.7% ± 13.7% and 51.6% ± 13.9%, respectively, and in group 2, the values of mean DRF were 56.7% ± 23.4% and 56.7% ± 23.6%, respectively. Conclusion: In view of our study, diuretic administration seems to be an unnecessary intervention because it has no effect on the accuracy of DRF measurements using DMSA scintigraphy in patients with a dilated collecting system whether it is obstructed or not. Copyright © 2005 by Lippincott Williams & Wilkins

Lipoprotein (A) levels in type 2 diabetic patients with diabetic retinopathy

PubMedID: 15727389To examine a possible association between lipoprotein(a) [Lp(a)] levels and diabetic retinopathy in patients with type 2 diabetes mellitus. 100 type 2 diabetic patients were assessed with the following parameters: age, body mass index, duration of diabetes, blood pressure, fasting plasma glucose, total cholesterol, HDL-cholesterol, triglycerides, blood urea nitrogen, creatinine, Lp(a), and albumin excretion rate (AER). Retinopathy was classified as normal retina (NR), non-proliferative diabetic retinopathy (NPDR), and proliferative diabetic retinopathy (PDR) by an ophthalmologist. The PDR group had higher cholesterol (t=-2.24, p<0.05) and creatinine (z=-2.547, p<0.05) levels than the NPDR group. The PDR group had a higher value of AER (z=-2.439, p<0.01) than the NR group. The possibility of developing diabetic retinopathy after 10 years of diabetes was found to be 6.5 fold high (OR; 6.57, 95% CI 1.74-24.79; p<0.05). The Lp(a) levels were similar in the patients with retinopathy and those without retinopathy. In the study, there was no evidence for a relationship between the serum Lp(a) levels and diabetic retinopathy in type 2 diabetic patients

Detection and importance of micrometastases in histologically negative lymph nodes in endometrial carcinoma

PubMedID: 22335022Background: Lymph node status is the most important prognostic factor in terms of its relation to long-term survival of endometrial carcinoma (EC) patients. We aimed to investigate the rate of micrometastases in lymph nodes of EC patients that were previously reported as negative with routine histopathology, and the relationship with clinical and pathologic factors. Materials and Methods: With immunohistochemistry, we retrospectively looked at cytokeratin staining of lymph nodes from 47 EC patients, that were previously reported to be negative for lymph node metastases after full surgical staging and routine histopathologic investigation. We also looked at the relationship between micrometastases and clinical, histopathologic factors and recurrence. Results: Of all 47 patients, seven (14.9%) were found to have micrometastases in their previously negatively reported lymph nodes. Six out of seven of these patients (85.7%) were high-risk EC patients. Among high-risk EC patients, 50% had micrometastases, whereas only one patient out of 35 with low or intermediate risk had micrometastases (2.9%). The difference between these groups was statistically significant (p = 0.001). Grade was also correlated with micrometastases (p = 0.0001). Mean follow-up time was 55.5 ± 13.3 months. There were two recurrences in the group having cytokeratin micrometastasis, whereas no patients without micrometastases developed any recurrence. While 36 months recurrence-free survival (RFS) was 100% in patients without micrometastases, it was 71% in patients with micrometastases (mean rate 57 months) (p = 0.0004). Both RFS and overall survival were statistically significantly inferior for patients having micrometastases, high-risk status, and lymphovascular space involvement (p < 0.05). Conclusion: It seems reasonable to further analyze negative lymph nodes in high-risk EC patients for micrometastases utilizing immunohistochemistry techniques. Half of this group of patients are still at risk of lymph node metastases even if routine histological findings are negative for metastases. The finding of micrometastases can change therapeutic decisions for the better by incorporating adjuvant treatment options

Frequency and mortality risk factors of acute adult poisoning in Adana, Turkey, 1997-2002

PubMedID: 16358165Objective: The purpose of this study was to evaluate the data on acute adult poisoning over a six-year period at a university emergency department in Turkey and identify the risk factors of mortality. Material and methods: In this survey, data were collected from 2,229 adult patients admitted to the Emergency Department (ED) of Cukurova Medical Faculty, Adana, from January 1, 1997 to December 31, 2002. Results: Of all emergency admissions during the six years, 1.6% were poisoned. Of the total poisoning cases, 725 (32.5%) were males and 1,504 were females. Mean age was 29.3±13.2 for males and 23.8±9.6 for females (p=0.001). A majority of the cases (76.4%) were attempted suicides. The attempted suicide ratio is higher for women (gender ratio: 2.4/1) and youths. Drugs were the most frequent cause of poisoning (59.0%) and pesticides were the second (26.4%). Psychoactive drugs were the most common agent (33.5%) among drugs, with their rate increasing each year. Eighty-seven patients died (3.9%): alcohol (methanol) was the most frequent cause of death (20.6%), followed by mushrooms (11.5%), carbon monoxide (10.3%) and pesticides (8.3%). More men than women died by poisoning (OR: 1.8 CI: 1.1-3.1). Gender, age, season, clinical status, initial emergency care and type of substance were significant risk factors for mortality. Conclusion: Poisoning by psychoactive drugs was increasing each year of the study, but many drugs are not a serious risk factor for mortality. However, organic phosphorus is a serious risk factor for poisoning and mortality in this area. Providing satisfactory public and emergency staff assistance and education on the subject may reduce the mortality rate. © The Mount Sinai Journal of Medicine

Diode laser for harvesting de-epithelialized palatal graft in the treatment of gingival recession defects: A randomized clinical trial

PubMedID: 26660000Aims The aim of present randomized controlled clinical study was to evaluate the effects of the use of diode laser for graft harvesting and palatal wound irradiation on post-operative morbidity and root coverage outcomes after a coronally advanced flap (CAF) with de-epithelialized gingival grafts (DGG). Methods Fifty-two patients with isolated recessions were treated. The CTG resulted from the de-epithelialization of a free gingival graft (FGG) with blade (control group:DGG-B) or diode laser (DL) (test group:DGG-L). The DL was used to de-epithelialize the outer part of the FGG and photo-biostimulate the palatal wound area. Post-operative morbidity was evaluated by using Oral Health-related Quality of Life (OHQoL) and Visual Analogue Scale-discomfort (VAS). Root coverage outcomes were also evaluated 6 months after operation. Results Statistically significant differences were found for OHQoL (p = 0.0001) and VAS (p = 0.0001) at the 7th day post-operatively favouring test sites. Root coverage results did not show a statistically significant difference. Conclusions While both techniques were effective with regard to root coverage at 6 months, the DGG-L technique decreased post-operative morbidity associated with palatal donor-site surgery. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

Emotional and behavioural problems in migrant children

PubMedID: 12596091Objectives: To assess emotional (depression, anxiety and self-esteem) and behavioural problems in migrant children and to compare them with non-migrant children. Methods: 526 students (60% boys, 40% girls) aged 11.23 ± 1.05, at five schools in Adana, Turkey in areas with a high migrant population were included in this study. 182 children (35%) were migrants and 344 children (65%) were non-migrants. The Depression Inventory for Children (CDI), the State-Trait Anxiety Inventory for Children (STAI-C) and the Coopersmith Self-Esteem Inventory (CSEI) were administered to the pupils at their school and Rutter's Teachers Rating Scale (RTRS) was administered to their teachers. Sociodemographic variables were recorded on the basis of school records and the children's report. Results: In the migrant group, fathers were less educated and had more employment problems, homes were rented and the children were unsuccessful at school. Migrant children had significantly lower self-esteem with higher depression and anxiety. Behavioural symptoms on RTRS were not significant with regard to migration. No significant correlation was found between psychometric tests and father's education, duration of residence after migration or room density. Conclusions: We found significant emotional but no behavioural problems in Turkish migrant children compared to Turkish non-migrant children. Further prospective studies are needed to clarify the long-term course of the various types of distress and the individual prognosis of migrant adjustment

Immediate post-operative effects of different periodontal treatment modalities on oral health-related quality of life: A randomized clinical trial

PubMedID: 17716314Aim: Oral health-related quality of life (OHQoL) characterizes a person's perception of how oral health influences an individual's life quality. The aim of this study is to investigate how the treatment modalities may affect the immediate post-operative quality of life of patients with periodontitis. Materials and Methods: Sixty psychologically and socio-demographically matched periodontitis patients were randomly divided into three groups [20 non-surgical (NS), 20 surgical (SG), 20 surgical plus enamel matrix protein derivative (S+EMD)]. The OHQoL was assessed with two patient-centred outcome measures [Oral Health Impact Profile-14 (OHIP-14) and General Oral Health Assessment Index (GOHAI)] in the post-operative period of 1 week. Results: Whereas there were no differences of OHQoL at the baseline, the patients treated by surgery had reported that they had experienced a worse OHQoL compared with the NS and S+EMD groups both in the OHIP-14 and GOHA indexes (p=0.001). Conclusions: The results of this study clearly indicated that patient perceptions on the immediate post-operative period were significantly better in the NS and S+EMD groups when compared with the SG group. These findings need to be confirmed in further studies with larger populations. © 2007 Blackwell Munksgaard