Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome,a renal-hepatic-pancreatic dysplasia

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Barriers and facilitators of implementing child injury surveillance system

Purpose: Child injuries are a global public health problem and injury surveillance systems (ISS) can be beneficial by providing timely data. However, ISS implementation has challenges. Opinions of stakeholders of ISS implementation barriers and facilitators are a good source to understand this phenomenon. The aim of this study is to investigate barriers and facilitators of implementing ISS in Iran. Methods: This is a qualitative study. Data were gathered through interviews with 14 experts in the field of child injury and prevention from Iranian Ministry of Health and Medical Education (MOHME), medical universities, pediatrics hospitals, general hospitals and health houses during January 2017 to September 2017. Data collection and analysis continued until data saturation. Data were analyzed using content analysis through identifying meaning units. Results: Barriers were classified in three main categories and nine subcategories including management barriers (including performance, coordination and cooperation, supervision and attitude), weakness in data capture and usage (including data collection, data recording and data dissemination) and resource limitation (including human and financial resources). Facilitators identified in three areas of policy making (including empowerment and attitude), management (including organization, function and cooperation and coordination) and data recording and usage (including data collection/distribution and data recording). Conclusion: The most important barrier is lack of national policy in child injury prevention. The most important facilitator is improving MOHME function through passing supportive regulations. Effective data usage and dissemination of information to those requiring data for policy making can help reduce child injuries. Coalition of stakeholders helps overcome existing barriers.     

Diffusion MRI changes in the anterior subventricular zone following chemoradiation in glioblastoma with posterior ventricular involvement

Journal of Neuro-Oncology - There is growing evidence that the subventricular zone (SVZ) plays a key role in glioblastoma (GBM) tumorigenesis. However, little is known regarding how the SVZ, which...     

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5

Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French-Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools.     

Efficacy of Microneedling Versus Fractional Non-ablative Laser to Treat Striae Alba: A Randomized Study

American Journal of Clinical Dermatology - Striae distensae (SD), an unsightly cutaneous condition characterized by epidermal atrophy, can affect the quality of life of women. The aim of our study...