Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A

Objective:Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1α-hydroxylase gene (CYB27B1). As it may be confused with nutritional rickets and hypophosphatemic rickets, genetic analysis is important for making a correct diagnosis.Methods:We analysed genomic DNA from 11 patients from eight different Turkish families. The patients were recruited for our studies if they presented with a diagnosis of VDDR.Results:The mean ± standard deviation age at diagnosis was 13.1±7.4 months. Seven patients had mild hypocalcemia at presentation while four patients had normal calcium concentrations. All patients underwent CYP27B1 gene analysis. The most prevalent mutation was the c.195 + 2T>G splice donor site mutation, affecting five out of 11 patients with VDDR1A. Two patients from the fourth family were compound heterozygous for c.195 + 2T>G and c.195 + 2 T>A in intron-1. Two patients, from different families, were homozygous for a previously reported duplication mutation in exon 8 (1319_1325dupCCCACCC, Phe443Profs*24). One patient had a homozygous splice site mutation in intron 7 (c.1215 + 2 T>A) and one patient had a homozygous mutation in exon 9 (c.1474 C>T).Conclusion:Intron-1 mutation was the most common mutation, as previously reported. All patients carrying that mutation were from same city of origin suggesting a “founder” or a “common ancestor” effect. VDDR1A should definitely be considered when a patient with signs of rickets has a normal 25-OHD level or when there is unresponsiveness to vitamin D treatment

Seckel syndrome: a case report

Seckel sendromu boy kısalığı, mikrosefali, çıkık burun (gaga burun) ve tipik yüz görünümü ile karakterize otozomal resesif kalıtımlı bir hastalıktır (1). Ateş ve emmeme yakınmasıyla pediatri polikliniğine başvuran üç aylık erkek hasta atipik yüz görünümü nedeniyle polikliniğimize yönlendirildi. Fizik muayenesinde, vücut ağırlığı 2570 gram (<3 persentil), boyu 50 cm (<3 persentil) ve baş çevresi 29 cm (<3 persentil) idi, genel durumu iyi, bilinci açık, malnutre görünümde idi. Olguda, orantılı boy kısalığı, mikrosefali, ön fontanel küçüklüğü, yassı (geriye düşük) alın, mikrognati, düşük ve malforme kulaklar, göreceli büyük göz ve kulaklar, çıkık gaga burun, yüksek damak ve üçgen dar yüz görünümü mevcuttu. Kemik surveyde bilateral 12. kosta kemikleri yoktu. Olguya klinik olarak Seckel sendromu tanısı konuldu. Bu olgu ile mikrosefali ve tipik yüz görünümü olan hastalarda, Seckel sendromu olabileceğini hatırlatmak istedik.Seckel syndrome is an autosomal recessive disease characterized by short stature, microcephaly, prominent nose (beaked nose), and typical facial appearance (1). Three-month-old male patient was brought to pediatrics clinic with the complaints of fever and poor sucking, and referred to us because of atypical facial appearance. Physical examination revealed that he had a good general condition, was conscious, and had the appearance of malnutrition. Body weight was 2570 gr (<3rd percentile), length was 50 cm (<3rd percentile) and head circumference was 29 cm (<3rd percentile). The patient had proportionate short stature, microcephaly, the small anterior fontanelle and sloping forehead, micrognathia, low-set and malformed ears, relatively large eyes and ears, prominent nose (beaked nose), high palate, narrow triangular facial appearance. Bilateral 12th ribs were not seen with bone survey. The patient was diagnosed clinically with Seckel syndrome. We want to remind that this case, and therefore patients with microcephaly and typical facial appearance may have Seckel syndrome

Meckel-gruber syndrome, a rare fetal anomaly: a case report

Otozomal resesif geçisli bir hastalık olan Meckel-Gruber Sendromu (MGS), multipl konjenital anomali içeren nadir bir hastalıktır ve letal seyreden bir sendromdur. MGS'nin klasik triadı; bilateral kistik renal displazi, oksipital ensefalosel ve postaksiyal polidaktilidir. Bunlardan üçünden en az ikisinin olması tanıyı koydurur. Bu yazıda intrauterinMGSsaptanan bir olgu sunulmasını amaçladık. Son adet tarihine göre 23 hafta 5 günlük gebelik + multipl fetal anomali nedeni ile gebe poliklinigimize refere edilen olgu obstetrik ultrasonografi ile degerlendirildi. Yasayan 2 saglıklı çocugu olan 26 yasındaki olgunun hikayesinden, daha önce 32. gebelik haftasında ölü dogum öyküsü oldugu, nedeninin bilinmedigi ama polidaktilisi bulundugu ögrenildi. Olgunun yapılan ultrasonunda fetal bilateral multikistik displastik böbrek, her iki elde polidaktili, bilateral ventrikülomegali ve anhidroamniyos saptandı. MGS düsünülen ve anhidramniyosu olan gebeye konsey kararı sonucu ve ailenin istegi ile tıbbi tahliye uygulandı. 750 gram agırlıgında bir erkek bebek ölü olarak dogurtuldu. Genetik incelemesi yapılan fetusun kromozom analizi normal (46, XY) olarak geldi. Otopsi sonucunda bilateral polikistik böbrek, her iki el ve ayaklarda polidaktili ve micrognati mevcuttu. Prenatal bilateral genislemis multikistik böbrek tanısı MGS'yi akla getirmelidir ve santral sinir sistemi malformasyonları ve polidaktili arastırması yapılmalıdır. Bununla birlikte fetal otopsinin tanının dogrulanmasında önemlidir.Meckel-Gruber Syndrome (MGS), an autosomal recessive disease, is a rare and lethal syndrome with congenital polymalformations Classical triad of MGS is bilateral cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. For diagnosis, two out of these three findings required to be present. In this article, we aimed to present a case with intrauterineMGS. Patient with 23 weeks and five days pregnancy (according to her last menstrual period) with multiple anomalies was evaluated by obstetric ultrasonography. The obstetric history of the 26-year-old patient revealed that she had 2 healthy living children and one previous intrauterine ex fetus with polydactyly and an unknown cause at 32 weeks of gestation. Ultrasonographic examination of the case showed fetal bilateral multicystic dysplastic kidney, polydactyly in hands, bilateral ventriculomegaly and anhidroamnios. The case was diagnosed as MGS and underwent medical termination of pregnancy with the consent of family and the council of doctors. An ex male infant weighing 750 grams was delivered. Genetic analysis showed normal chromosome analysis (46, XY). Bilateral polycystic kidneys, and polydactyly of both hands and feet, and microgynathy were found in autopsy. Investigation of central nervous system malformations and polydactyly should be conducted in patients with prenatal detection of bilateral enlarged multicystic kidneys, when MGS is considered as a possible diagnosis. Furthermore verification of the diagnosis with fetal autopsy is important

Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countries

Background: Balancing opioid stewardship and the need for adequate analgesia following discharge after surgery is challenging. This study aimed to compare the outcomes for patients discharged with opioid versus opioid-free analgesia after common surgical procedures.Methods: This international, multicentre, prospective cohort study collected data from patients undergoing common acute and elective general surgical, urological, gynaecological, and orthopaedic procedures. The primary outcomes were patient-reported time in severe pain measured on a numerical analogue scale from 0 to 100% and patient-reported satisfaction with pain relief during the first week following discharge. Data were collected by in-hospital chart review and patient telephone interview 1 week after discharge.Results: The study recruited 4273 patients from 144 centres in 25 countries; 1311 patients (30.7%) were prescribed opioid analgesia at discharge. Patients reported being in severe pain for 10 (i.q.r. 1-30)% of the first week after discharge and rated satisfaction with analgesia as 90 (i.q.r. 80-100) of 100. After adjustment for confounders, opioid analgesia on discharge was independently associated with increased pain severity (risk ratio 1.52, 95% c.i. 1.31 to 1.76; P &lt; 0.001) and re-presentation to healthcare providers owing to side-effects of medication (OR 2.38, 95% c.i. 1.36 to 4.17; P = 0.004), but not with satisfaction with analgesia (beta coefficient 0.92, 95% c.i. -1.52 to 3.36; P = 0.468) compared with opioid-free analgesia. Although opioid prescribing varied greatly between high-income and low- and middle-income countries, patient-reported outcomes did not.Conclusion: Opioid analgesia prescription on surgical discharge is associated with a higher risk of re-presentation owing to side-effects of medication and increased patient-reported pain, but not with changes in patient-reported satisfaction. Opioid-free discharge analgesia should be adopted routinely

Methods for determination of available iron contents of olive grown souls in Bursa region

Bu çalışma Bursa bölgesi zeytin yetiştirilen toprakların alınabilir demir (Fe) içeriklerinin belirlenmesinde kullanılabilecek en uygun yöntemin belirlenmesi için yürütülmüştür. Bu amaçla Bursa bölgesinde, araştırmadan önce geniş bir survey çalışması yapılarak Bursa’nın İznik, Orhangazi, Gemlik ve Mudanya ilçelerinde 50 adet zeytin bahçesi belirlenmiştir. Bu bahçelerden erken ilkbaharda 0 - 30 ve 30 - 60 cm derinliklerden alınan toplam 100 karma toprak örneği, ocak ayında alınan toplam 50 yaprak ve hasat olgunluğunda alınan 50 meyve örneği, araştırma materyalini oluşturmaktadır. Toprakların alınabilir Fe içeriklerinin belirlenmesinde; Toplam Fe, Kral Suyu (3 HCl + 1 HNO3) (Y1); 0,005 M DTPA + 0,01 M CaCl2 + 0,1 M TEA (Y2); “Aktif Fe” (COONH4)2.2H2O + (COOH)2.2H2O (Y3); 0,05 M HCl + 0,012 M H2SO4 (Y4); 0,05 M EDTA (pH 7,0) (Y5); 1 M NH4HCO3 + 0,005 M DTPA (pH 7,6) (Y6); 0,01 M Na2EDDHA (pH 7,0) (Y7); 0,43 M HNO3 (Y8) yöntemleri kullanılmıştır. Araştırma bulgularına göre, 0,05 M HCl + 0,012 M H2SO4 (Y4) yönteminin Bursa yöresi zeytin plantasyonlarının alınabilir Fe içeriklerinin belirlenmesinde kullanılabileceği düşünülmektedir.This study was conducted to select appropriate methods for the evaluation of available Fe status in olives grown in alkaline soils. For this purpose, 50 olive orchards were selected in the Iznik, Orhangazi, Gemlik and Mudanya districts of Bursa region by conducting an extensive survey before the research started in the Bursa region. A total of 100 compound soil samples were taken from 0 - 30 and 30 - 60 cm depths in early spring from the orchards, a total of 50 leaf samples were collected in January and 50 fruit samples were collected at harvest maturity. In determining the available Fe content of soils; Total Fe, Aqua Regia (3 HCl + 1 HNO3) (M1); 0,005 M DTPA + 0,01 M CaCl2 + 0,1 M TEA (M2); “Active Fe” (COONH4) 2.H2O + (COOH)2.2H2O (M3); 0,05 M HCl + 0,012 M H2SO4 (M4); 0,05 M EDTA (pH 7,0) (M5); 1 M NH4HCO3 + 0,005 M DTPA (pH 7,6) (M6); 0,01 M Na2EDDHA (pH 7,0) (M7) and 0,43 M HNO3 (M8) methods were used. According to results of the research, method of 0,05 M HCl + 0,012 M H2SO4 (M4) could be used for determination of available Fe status of olive grown soils in Bursa regio

Pulmonary Endarterectomy in a Patient with Immune Thrombocytopenic Purpura

Immune thrombocytopenic purpura (ITP) patients are at high risk for bleeding complications regarding surgeries involving cardiopulmonary bypass. We report an ITP patient with chronic thromboembolic pulmonary hypertension who underwent uncomplicated pulmonary endarterectomy with receiving postoperative intravenous immunoglobulin (IVIG) therapy. The positive outcome of this case may suggest that pulmonary endarterectomy surgery is performed safely for ITP patients

Human papillomavirus vaccines and cervical cancer: A wareness, knowledge, and risk perception among Turkish undergraduate students

WOS: 000349759300018PubMed ID: 24989817The aim of this study was to evaluate awareness, knowledge, and risk perception about human papillomavirus (HPV), cervical cancer, and HPV vaccines among undergraduate students in Turkey. The convenience sample of this descriptive cross-sectional study consisted of 605 undergraduate students in Istanbul University during a semester. Demographic characteristics of students, their reproductive health and lifestyle behaviors, and knowledge of HPV and HPV vaccine were questioned using self-administered forms. The overall proportion of students who had heard about HPV infection was 48.8 %, while the proportion of students who had heard of the HPV vaccine was 44.5 %. Forty eight percent of females and 60 % of males reported never having heard of the HPV. Only 45.7 % of females had knowledge about HPV as a cause of genital warts, and 58.1 % correctly indicated that HPV caused cervical cancer. The majority of students in both genders (> 80 %) knew that the infection is primarily transmitted through sexual intercourse. Females were more concerned than males about having cervical/penile cancer associated with HPV in the future. Only 46.4 % of females and 39 % of males reported having heard of the HPV vaccine. The majority of the female and male students did not know who should get the HPV vaccine and when to get vaccinated. Among males, 25.8 % reported that they would consider getting vaccinated (if available) and 38.4 % intended to vaccinate their children. Turkish undergraduate students had a low to moderate level of knowledge regarding HPV infection and HPV vaccine. In order to increase awareness about HPV and develop positive behaviors, young people should be provided with accurate information through educational activities in the community and health care services

Biotransformation of androst-4-ene-3,17-dione by some fungi

The incubations of androst-4-ene-3,17-dione with Aspergillus candidus MRC 200634, Aspergillus tamarii MRC 72400, Aspergillus wentii MRC 200316 and Mucor hiemalis MRC 70325 for 5 days are reported. A. candidus MRC 200634 mainly hydroxylated androst-4-ene-3,17-dione at C-11 alpha, C-15 alpha and C-15 beta whilst A. wentii MRC 200316 hydroxylated it mainly at C-6 beta. A. tamarii MRC 72400 showed predominately a Baeyer-Villiger monooxygenase activity. M. hiemalis MRC 70325 hydroxylated the substrate at C-14 alpha and reduced most of it at C-17

Effect of Sacubitril/Valsartan Combined with Dapagliflozin on Long-Term Cardiac Mortality in Heart Failure with Reduced Ejection Fraction

The angiotensin receptor-neprilysin inhibitor (ARNI) sacubitril/valsartan and sodium-glucose cotransporter-2 (SGLT-2) inhibitor dapagliflozin have been shown to reduce rehospitalization and cardiac mortality in patients with heart failure (HF) with reduced ejection fraction (HFrEF). We aimed to compare the long-term cardiac and all-cause mortality of ARNI and dapagliflozin combination therapy against ARNI monotherapy in patients with HFrEF. This retrospective study involved 244 patients with HF with New York Heart Association (NYHA) class II-IV symptoms and ejection fraction <= 40%. The patients were divided into 2 groups: ARNI monotherapy and ARNI+dapagliflozin. Median follow-up was 2.5 (.16-3.72) years. One hundred and seventy-five (71.7%) patients were male, and the mean age was 65.9 (SD, 10.2) years. Long-term cardiac mortality rates were significantly lower in the ARNI+dapagliflozin group (7.4%) than in the ARNI monotherapy group (19.5%) (P = .01). Dapagliflozin [Hazard Ratio (HR) [95% Confidence Interval (CI)] = .29 [.10-.77]; P = .014] and left ventricular ejection fraction (LVEF) [HR (95% CI) = .89 (.85-.93); P < .001] were found to be independent predictors of cardiac mortality. Our study showed a significant reduction in cardiac mortality with ARNI and dapagliflozin combination therapy compared with ARNI monotherapy