Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar

Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to identify disease‐causing genes in consanguineous families in Qatar. Seventeen consanguineous families with diverse disorders were recruited. Initial mutation screening of known genes related to the clinical diagnoses did not reveal the causative mutations. Using WES approach, we identified the definitive disease‐causing mutations in four families: (i) a novel nonsense homozygous (c.1034C>G) in PHKG2 causing glycogen storage disease type 9C (GSD9C) in a male with initial diagnosis of GSD3; (ii) a novel homozygous 1‐bp deletion (c.915del) in NSUN2 in a male proband with Noonan‐like syndrome; (iii) a homozygous SNV (c.1598C>G) in exon 11 of IDUA causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a de novo known splicing mutation (c.1645+1G>A) in PHEX in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets. Applying WES as a diagnostic tool led to the unambiguous identification of disease‐causing mutations in phenotypically complex disorders or correction of the initial clinical diagnosis in ?25% of our cases.     

Comparison of Calorie-Restricted Diet and Resveratrol Supplementation on Anthropometric Indices,Metabolic Parameters,and Serum Sirtuin-1 Levels in Patients With Nonalcoholic Fatty Liver Disease: A Randomized Controlled Clinical Trial

Objective: There is a promising perspective regarding the potential effect of resveratrol in preventing and treating metabolic disturbances similar to that of calorie restriction. The aim of this study was to evaluate the effects of calorie-restricted (CR) diet on metabolic parameters and then to investigate whether resveratrol supplementation has beneficial effects similar to CR diet in patients with nonalcoholic fatty liver disease (NAFLD).

Methods: This randomized controlled clinical trial was conducted in 90 patients with NAFLD (males and females) aged 20 to 60 years with body mass index (BMI) ranging from 25 to 35 kg/m². Participants were assigned to one of three intervention groups as follows: The CR diet group (n = 30) received a prescribed low-calorie diet, the resveratrol group (n = 30) received 600 mg pure trans-resveratrol (2 × 300 mg) daily, and the placebo group (n = 30) received placebo capsules (2 × 300 mg) daily for 12 weeks. Fasting blood samples, anthropometric measurements, and dietary intake and physical activity data were collected for all participants at baseline and at the end of the trial.

Results: CR diet significantly reduced weight (by 4.5%); BMI; waist circumference; waist-to-hip ratio; and serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), and lipid profiles in participants compared to resveratrol and placebo (all p < 0.05). Significant reductions in weight (by 1.1%) and BMI were found in the resveratrol group compared to the placebo group (p < 0.05). ALT, AST, and lipid profiles did not change significantly in the resveratrol group (all p > 0.05). No significant changes were seen in hepatic steatosis grade, serum glycemic parameters, and high-density lipoprotein cholesterol and sirtuin-1 levels in any group (all p > 0.05).

Conclusions: CR diet with moderate weight loss has favorable effects on NAFLD, and resveratrol supplementation induced weight loss but failed to mimic other aspects of CR diet. Future studies are warranted to evaluate the long-term and dose-dependent effects of resveratrol on metabolic diseases.     

Potential Anticancer Activity of Caspian Cobra Venom Through Induction of Oxidative Stress in Glioblastoma Cell Line

Proceedings of the National Academy of Sciences, India Section B: Biological Sciences - Despite advances in therapeutic strategies in the management of cancer, malignant glioma remains difficult to...     

A novel gold nanorods-based pH-sensitive thiol-ended triblock copolymer for chemo-photothermo therapy of cancer cells

Currently an effective strategy in nanomedicine for cancer therapy is the combination of photothermal therapy with chemotherapy. Because combination cancer therapy improve the therapy efficiency by synergistic effects and overcoming drug resistance as compared to monotherapy possesses. According to these facts, gold nanorods-cored biodegradable micelles were prepared by coating gold nanorods (AuNRs) with synthesized pH-sensitive thiol-ended amphiphilic triblock copolymer (PAA-b-PDMAEMAQ-b-PCL-SH). The synthesized AuNRs@polymer was loaded with methotrexate (MTX) as an anticancer drug through electrostatic interactions to afford AuNRs@polymer-MTX. The success of the coating was investigated by means of atomic force microscopy (AFM), thermogravimetric analysis (TGA), transmission electron microscopy (TEM), Fourier transform infrared (FTIR) spectroscopy, ultraviolet-visible (UV-vis) spectroscopy, as well as dynamic light scattering (DLS), and zeta potential measurements. MTX-loading capacity, and pH triggered in vitro drug release behavior of the synthesized nanocomposites were also investigated. In vitro cytotoxic effects was comprehensively evaluated among free MTX, AuNRs@polymer, and AuNRs@polymer–MTX, with or without NIR light irradiation (1064?nm, 125?mJ/pulse, and 4?min) to improve curative effect of AuNRs@polymer–MTX led by the combination of photothermal therapy and chemotherapy.     

Connectivity-based deep learning approach for segmentation of the epithelium in in vivo human esophageal OCT images

Optical coherence tomography (OCT) is used for diagnosis of esophageal diseases such as Barrett’s esophagus. Given the large volume of OCT data acquired, automated analysis is needed. Here we propose a bilateral connectivity-based neural network for in vivo human esophageal OCT layer segmentation. Our method, connectivity-based CE-Net (Bicon-CE), defines layer segmentation as a combination of pixel connectivity modeling and pixel-wise tissue classification. Bicon-CE outperformed other widely used neural networks and reduced common topological prediction issues in tissues from healthy patients and from patients with Barrett’s esophagus. This is the first end-to-end learning method developed for automatic segmentation of the epithelium in in vivo human esophageal OCT images.     

Etiology and treatment of dandruff according to Persian medicine

Scalp dandruff is one of the most common complaints of patients visiting dermatologic clinics. It has significant influence on the self‐confidence and social image of the individuals it affects. The current study aimed to analyze this problem from the viewpoint of Persian medicine. This paper is a literature review in which the text of selected books on Persian medicine is investigated using content analysis based on the theoretical sampling method. The studied keywords in the Persian medicine books included Hozaz, Ebrieh, and Ghooba. Relevant points were extracted from the text of papers selected from PubMed, Scopus, and SID and analyzed further. Persian medicine considers the incidence of scalp dandruff to be an output of the interaction between internal and external factors and concentrates more on disorder in the process of waste removal through the skin and its role in the development of scaling diseases. In order to dandruff treatment, Persian medicine sages considered nutrition, personal hygiene, status of the digestive system, and the health status of other organs in addition to topical treatment. Clinical examination of Persian medicine hypotheses, especially how the quality of skin secretions affects the development of scaly skin, can improve the treatment of scalp dandruff and other scaling skin diseases.     

Comparison of intralesional two percent zinc sulfate and glucantime injection in treatment of acute cutaneous leishmaniasis

Introduction:

Cutaneous leishmaniasis is an endemic disease in developing countries caused by different species of leishmania parasite, and if left untreated, it will result in a deformed scar after a relatively long period. Although various systemic and topical treatments have been proposed for leishmaniasis, pentavalent Antimony compounds remain the first-line treatment for it. Considering the cases with treatment failure, potential side effects and reluctance of patients to receive the drug, there are continuing efforts to find better treatment alternatives.

Aim:

Comparison of the effect of intralesional 2% zinc sulfate injection with Glucantime in treatment of acute cutaneous leishmaniasis.

Materials and Methods:

In this clinical trial, 45 patients with clinical diagnosis of cutaneous leishmaniasis and positive direct smear for leishman body were treated by intralesional injection of either 2% zinc sulfate or Glucantime. After simple randomization, in one group the patients were treated with 2 bouts of intralesional 2% zinc sulfate with a 2-week interval, and in the other group they were treated with 6 weekly bouts of intralesional Glucantime. The patients were monitored in two week intervals for 8 weeks. Healing of the lesions was evaluated clinically and by direct smear, and the data were analyzed using SPSS (11.5) software, t-Student, Mann-Whitney and Analysis of covariance (ANCOVA) statistical tests.

Findings:

In the end of study, 34 patients completed the study, 10 of whom received intralesional Glucantime and 24 of whom received intralesional 2% zinc sulfate. The healing rate after 8 weeks was 80% in the group receiving intralesional Glucantime and 33.3% in the one receiving 2% zinc sulfate (P=0.009).

Conclusion:

Based on the results of this study, intralesional injection of 2% zinc sulfate was less effective in treatment of cutaneous leishmaniasis than intralesional Glucantime.     

Effects of virgin coconut oil consumption on metabolic syndrome components and asymmetric dimethylarginine: A randomized controlled clinical trial

Background and aimsThere is some promising evidence regarding the beneficial effect of coconut oil on cardiometabolic risk factors. This study aimed to assess the effects of virgin coconut oil (VCO) consumption on metabolic syndrome (MetS) components, as well as, asymmetric dimethylarginine (ADMA) in adults with MetS.Methods and resultsIn this randomized controlled trial, 48 subjects, aged 20–50 years, with MetS were allocated into two groups; the intervention group was given 30 ml of VCO per day to substitute the same amounts of fat in their usual diet for four weeks. The control group was advised to follow their usual diet. VCO consumption significantly reduced serum levels of triglyceride (TG) (P = 0.001), very low-density lipoprotein (VLDL) (P = 0.001), and fasting blood sugar (FBS) (P = 0.015) compared to the control group. The levels of high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and total cholesterol (TC) were significantly increased in the VCO group when compared to the control group (P = 0.001). Circulatory ADMA also increased in the VCO group compared to the control group (P = 0.003). No significant differences were observed in the LDL-C/HDL-C ratio, anthropometric parameters, and blood pressure measurements between the two groups at the end of the study (P > 0.05).ConclusionVCO consumption increased the values of HDL-C while reduced TG and FBS levels. Blood pressure and waist circumference did not change. However, levels of TC, LDL-C, and ADMA elevated by VCO consumption. Caution is warranted until the results of further studies become available to explain the long-term effects of VCO consumption.Registration numberIRCT20131125015536N11.     

Investigating and Comparing the Effect of Teach-Back and Multimedia Teaching Methods on Self-Care in Patients With Diabetic Foot Ulcers

This study evaluated the effect of teach-back and multimedia teaching methods versus routine care on the self-care of patients with diabetic foot ulcers. Patients receiving either the teach-back or multimedia interventions had greater improvement in self-care scores than those receiving routine care. Both the teach-back and multimedia teaching methods were found to be effective in enhancing the self-care of people with diabetes.

People with diabetes (PWD) account for 7–8% of the total population in Iran (1). PWD are exposed to severe complications such as mental physical problems, including vascular disorders and peripheral neuropathy resulting in diabetic foot ulcers (2–5). Although the number of deaths caused by diabetes complications has decreased in recent years, the number of disabilities caused by diabetes remains high; for example, >70% of amputations are the result of diabetes (6).Diabetic foot ulcers are one of the most important and most common complications of diabetes and the main cause of hospitalization of these patients. Foot ulcers also impose the highest hospital costs on PWD (7). The World Health Organization describes “diabetic foot” as the foot of a person with diabetes who has neurological disorders, some degree of vascular involvement, and susceptibility to infection and ulcer, with or without degradation of deep tissues (8). Diabetic foot ulcers are slow to heal and can disrupt the lifestyle, social activities, health, and quality of life of patients and their caregivers (9). Because of the prevalence of foot ulcers in PWD, we need supportive programs to prevent and control this complication (10).Four risk factors are involved in the development of foot ulcers, including neuropathy, foot deformity, history of previous foot ulcer, and decreased foot circulation. People with these risk factors should receive specific ulcer treatments and implement effective plans to prevent relapse once an ulcer has healed. All PWD—even those without risk factors—need to take good care of their feet because even minor cases can lead to serious problems in these patients (11).Recent studies have shown that several risk factors may be associated with the development of diabetic foot ulcers. Foot ulcers are more common in males, people with longer duration of diabetes (>10 years), older people, those with higher BMIs, and people with other diabetes-associated diseases such as retinopathy, neuropathy, peripheral vascular disease, foot decay, excessive pressure on the soles of the foot (such as from inappropriate shoes and anatomical problems), malnutrition, and infection (12).Diabetes is a chronic disease requiring lifelong adjustment (13). Hence, PWD are expected to carry out rigorous self-care behaviors throughout their life. Evidence has shown that a lack of information and skills needed to manage chronic disease conditions is one of the most important causes of patient noncompliance with treatment and recommendations such as for healthy eating (2).The main goal of diabetes treatment is not only to remove the physical signs and symptoms of the disease, but also to improve the overall quality of life of patients. Self-care is the foundation of health promotion and disease prevention. Thus, providing a self-care educational program helps patients improve their self-care abilities and reduce their fear and dependence, thus enhancing their self-esteem and independence (14). Facilitating the process of self-care can improve the health, economic, and social status of the entire community (15). In addition to reducing hospitalizations, appropriate self-care can prevent many other problems for patients (16). For these reasons, training has a special place in the diabetes treatment process. Having complete information about the overall disease and care is one of the most important rights of patients, and today, patient training is one of the most important care roles and responsibilities of nurses in enhancing patients’ health and ability to adapt to the effects of the disease (17).Training patients via electronic platforms is a new teaching method that allows for the transfer of the concepts and materials in a simpler, more accessible, and more appealing manner. Digital education can involve text, sounds, images, and video elements (18). One form of modern digital teaching is known as the multimedia method (17,19). Multimedia is considered to be an individual teaching method. It is a type of e-learning in which learners learn how to learn (20). Another teaching approach to ensure patient understanding and retention of information is the teach-back method (21). Studies conducted by Oshvandi et al. (22) on heart failure, diabetes, and dialysis patients, respectively, showed that the teach-back teaching increased patients’ self-care behaviors. None of the studies in this area to date have compared the effects of the two teaching methods (teach-back and multimedia) on self-care in PWD.