Somatic and germline mosaicism for an X-linked dominant mutation in PHEX may mimic autosomal dominant inheritance.

Two siblings with BFNC had a novel heterozygous missense mutation, p.R213W, in KCNQ2. This mutation may affect potassium gating, leading to neuronal excitability or convulsions in the patients. Furthermore, neither of the parents had the p.R213W mutation, indicating that it was a germ-line mutation. The possibility of recurrence of such a germ-line mutation in the next siblings should be explained during genetic counseling.

BackgroundThe use of lengthy, detailed, and complex informed consent forms (ICFs) is of paramount concern in biomedical research as it may not truly promote the rights and interests of research participants. The extent of information in ICFs has been the subject of debates for decades; however, no clear guidance is given. Thus, the objective of this study was to determine the perspectives of research participants about the type and extent of information they need when they are invited to participate in biomedical research.MethodsThis multi-center, cross-sectional, descriptive survey was conducted at 54 study sites in seven Asia-Pacific countries. A modified Likert-scale questionnaire was used to determine the importance of each element in the ICF among research participants of a biomedical study, with an anchored rating scale from 1 (not important) to 5 (very important).ResultsOf the 2484 questionnaires distributed, 2113 (85.1%) were returned. The majority of respondents considered most elements required in the ICF to be ‘moderately important’ to ‘very important’ for their decision making (mean score, ranging from 3.58 to 4.47). Major foreseeable risk, direct benefit, and common adverse effects of the intervention were considered to be of most concerned elements in the ICF (mean score = 4.47, 4.47, and 4.45, respectively).ConclusionsResearch participants would like to be informed of the ICF elements required by ethical guidelines and regulations; however, the importance of each element varied, e.g., risk and benefit associated with research participants were considered to be more important than the general nature or technical details of research. Using a participant-oriented approach by providing more details of the participant-interested elements while avoiding unnecessarily lengthy details of other less important elements would enhance the quality of the ICF.Electronic supplementary materialThe online version of this article (10.1186/s12910-018-0318-x) contains supplementary material, which is available to authorized users.

Type 2 Diabetes Mellitus (T2DM) is characterized by 2 times higher blood glucose and lipid profile than nondiabetic people. Several studies indicated that pancreatic β cell dysfunction due to dyslipidemia is an independent risk factor T2DM. Dyslipidemia on T2DM can lead pancreatic β cell dysfunction. Objective: This study aimed to determine the correlation between lipid profiles (triglyceride, total cholesterol, LDL, and HDL) with pancreatic β cell function (HOMA-β) in patients with T2DM. Methods: This research method is a crosssectional study of 50 patients with T2DM at Community Health Center (45-65 years old). Lipid profiles level were analized by glycerol-3-phosphate-oxidase (GPO) PAP method (Genius) and insulin level was analized by using ELISA. β cell function is measured using HOMA-β. Pearson Correlation test was used to assess the correlation between lipid profiles with HOMA-β (p value <0.05) Results: This study showed no significant relationship between triglyceride and HOMA-β (p= 0,430), total cholesterol with HOMA-β (p=0,717), LDL with HOMA-β (p=0,633), HDL with HOMA-β (p=0,754). There is no significant relationship between lipid profiles (triglyceride, total cholesterol, LDL, and HDL) and β cell function. For further research, it is recommended to examine other factors such as food intake by taking into account the drugs consumed.

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Atrial septal defect (ASD) is the most frequent congenital heart disease in adulthood. Pulmonary hypertension (PH) complicating ASD compels patients seeking medical assistance because of its disabling symptom. Most adult ASD develop PH which render significant morbidity and mortality. The aim of the study is to characterize the clinical profiles of adult patients with ASD. The study design was cross sectional. The subjects were enrolled consecutively from outpatient clinics and inpatient wards. The demography, medical and imaging data were collected and recorded in case report form. Descriptive statistics was applied to characterize the subjects. Seventy-six subjects were enrolled. The majority were women (77.6 %) in the productive and child-bearing ages (63.2%). The most common symptoms were dyspneu on effort, fatigue, and palpitation. Most subjects had functional capacity of WHO class functional II (70.2 %). The mean oxygen saturation was 96.4 %. Based on the echocardiography examination, 77.6% of subjects had suffered from PH. The mean longest diameter of defects were 2.7 cm. The direction of blood flow was mostly left to right (77.6 %). Left and right ventricle function were within normal limit. Right heart catheterization showed mean left atrial pressure 11.5 mmHg, which confirmed the precapillary or arterial PH. Mean pulmonary artery pressure was 42.0 mmHg. The pulmonary artery resistance index mostly less than 4 Wood Unit/ m 2 (63.7 %), indicating the feasibility to close the defect. Whereas 24.6 % of subjects were contraindicated for closing. Pulmonary artery hypertension (PAH) was diagnosed in 77.6 % subjects, meanwhile 13.2 % had borderline PAH. In conclusion, most adult ASD patients had developed PAH, mostly young women in productive ages, mainly visited hospital due to symptom of PH, the direction of flow predominantly left to right side and mostly had reduced functional capacity. ABSTRAKDefek septum atrium (DSA) merupakan penyakit jantung bawaan yang paling sering dijumpai pada usia dewasa karena tanda dan gejalanya yang samar. Hipertensi paru (HP) merupakan komplikasi DSA yang mendorong pasien ke rumah sakit karena munculnya gejala yang berat. Hampir semua pasien DSA dewasa mengalami HP yang menyebabkan angka kesakitan dan kematian bermakna. Tujuan penelitian ini adalah untuk mengkaji karakteristik klinis pasien dengan DSA dan HP. Desain penelitian adalah potong lintang. J Med Sci, Volume 48, No. 2, 2016 April: 89-97 90Subjek diseleksi secara berurutan dari klinik rawat jalan dan rawat inap. Data demografi, medis dan pencitraan dikumpulkan dan dicatat dalam suatu blangko laporan kasus. Penelitian deskriptif dilakukan untuk menilai karakteristik subjek. Sebanyak tujuh puluh enam subjek dilibatkan dalam penelitian. Sebagian besar subjek adalah wanita (77,6%) usia muda, produktif dan subur (63,2%). Gejala paling sering adalah sesak saat aktivitas, mudah lelah, dan berdebar. Sebagian besar pasien masuk dalam kelas fungsional WHO II (70,2%). Rerata saturasi oksigen 96,4%. Berdasar hasil ekok...

HighlightsChronic use of metformin 1500 mg/day may exceed the recommended therapeutic level.It is necessary to consider combination therapy to avoid metformin accumulation.Obese patients with T2DM are recommended to use metformin with a shorter interval.