Refugee women's well-being, needs and challenges: implications for health policymakers.

BACKGROUND: Refugees face circumstances where their health and well-being are compromised. In this qualitative study, the aim was to understand Syrian refugee women's needs for care and the predisposing and enabling factors to healthcare access and utilisation. METHODS: Out of 945 Syrian mothers who gave birth in our university hospital between 2014 and 2018, 195 were reached; out of which, 47 women were included. Semi-structured in-depth interviews were conducted and were later analysed using a qualitative content analysis approach. Depression was assessed by the Patient Health Questionnaire-9 at the end of the interview. RESULTS: Social isolation and maternal depression, language barrier and challenges while navigating the healthcare system emerged as the main themes of the study. Low educational and occupational status of the women, poor social resources, limited Turkish proficiency and unfamiliarity with the host healthcare system were identified as the predisposing factors for poor healthcare services utilisation. CONCLUSION: Recommendations include bridging language gaps, improving the navigation of the healthcare system by visual support or in-person interpretation, and psychosocial support. Providing hospital-based language courses to mothers and social integration programs for families will improve the mothers' well-being and indirectly care of the child.

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC) is characterized by heterogeneous nonprogressive multiple joint contractures appearing at birth. We present a consanguineous Israeli-Druze family with several members presenting with AMC. A variable intra-familial phenotype and pected autosomal recessive inheritance prompted molecular diagnosis by whole-exome sequencing. Variant analysis focused on rare homozygous changes, revealed a missense variant in MYBPC1, NM_002465:c.556G>A (p.E286K), affecting the last nucleotide of Exon 8. This novel variant was not observed in the common variant databases and co-segregated as expected within the extended family. MYBPC1 encodes a slow skeletal muscle isoform, essential for muscle contraction. Heterozygous mutations in this gene are associated with distal arthrogryposis types 1b and 2, whereas a homozygous nonsense mutation is implicated in one family with lethal congenital contractural syndrome 4. We present a novel milder MYBPC1 homozygous phenotype.

Genetic features of Lynch syndrome in the Israeli population.

Diagnosis of Lynch syndrome (LS) may be complex. Knowledge of mutation spectrum and founder mutations in specific populations facilitates the diagnostic process. Aim of the study is to describe genetic features of LS in the Israeli population and report novel and founder mutations. Patients were studied at high-risk clinics. Diagnostics followed a multi-step process, including tumor testing, gene analysis and testing for founder mutations. LS was defined by positive mutation testing. We diagnosed LS in 242 subjects from 113 families coming from different ethnicities. We identified 54 different mutations; 13 of them are novel. Sixty-seven (59%) families had mutations in MSH2, 20 (18%) in MSH6, 19 (17%) in MLH1 and 7 (6%) in PMS2; 27% of the MSH2 mutations were large deletions. Seven founder mutations were detected in 61/113 (54%) families. Constitutional mismatch repair deficiency (CMMR-D) was identified in five families. Gene distribution in the Israeli population is unique, with relatively high incidence of mutations in MSH2 and MSH6. The mutation spectrum is wide; however, 54% of cases are caused by one of seven founder mutations. CMMR-D occurs in the context of founder mutations and consanguinity. These features should guide the diagnostic process, risk estimation, and genetic counseling.

The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.

Data on the clinical presentation of constitutional mismatch repair deficiency syndrome (CMMRD) is accumulating. However, as the extraintestinal manifestations are often fatal and occur at early age, data on the systematic evaluation of the gastrointestinal tract is scarce. Here we describe 11 subjects with verified biallelic carriage and who underwent colonoscopy, upper endoscopy and small bowel evaluation. Five subjects were symptomatic and in six subjects the findings were screen detected. Two subjects had colorectal cancer and few adenomatous polyps (19, 20 years), three subjects had polyposis-like phenotype (13, 14, 16 years), four subjects had few adenomatous polyps (8, 12-14 years) and two subjects had no polyps (both at age 6). Of the three subjects in the polyposis-like group, two subjects had already developed high-grade dysplasia or cancer and one subject had atypical juvenile polyps suggesting juvenile polyposis. Three out of the five subjects that underwent repeated exams had significant findings during short interval. The gastrointestinal manifestations of CMMRD are highly dependent upon age of examination and highly variable. The polyps may also resemble juvenile polyposis. Intensive surveillance according to current guidelines is mandatory.

Endovenous laser ablation for saphenous vein insufficiency: short- and mid-term results of 230 procedures.

OBJECTIVE: The present study aimed to evaluate the efficacy of endovenous laser ablation with a 1470-nm laser and to analyze the short- to mid-term results of endovenous laser ablation procedures to treat great saphenous vein insufficiency. METHOD: In this retrospective study, 200 patients (230 limbs) with symptomatic varicose veins secondary to great saphenous vein insufficiency treated with 1470-nm endovenous laser ablation were studied. Patients were evaluated clinically on the first day, first week, first month, and sixth month after the operation. Treated limbs were evaluated as separate treatment events. RESULTS: The short-term occlusion rate was 99% and mid-term occlusion rate was 100%. Induration or swelling was the most common minor complication (13%). No major complication such as deep venous thrombosis and pulmonary embolus occurred. Preoperatively documented mean venous clinical severity score significantly reduced from 4.9±2.3 to 2.5±1.1 (p<0.05). CONCLUSION: Endovenous laser ablation procedure of great saphenous vein with a 1470-nm diode laser is a minimally invasive, safe, and efficient treatment option in all-suitable patients with high short- and mid-term success rate.

Founder mutation for Huntington disease in Caucasus Jews.

Huntington disease (HD), an autosomal dominant disorder involving HTT, is characterized by chorea, psychiatric illness and cognitive decline. Diagnosis and age of onset depend on the degree of expansion of the trinucleotide CAG repeat within the gene. The prevalence of HD is known for Europeans but has not been studied in the Israeli population. Between 2006 and 2011 we diagnosed in our adult genetics clinic ten HD probands, nine of whom were Caucasus Jews (CJ) (Azerbaijani), and one Ashkenazi Jewish. We performed haplotype analysis to look for evidence of a founder mutation, and found that of the nine CJ, eight shared the same haplotype that was compatible with the A1 haplogroup. We calculated the coalescence age of the mutation to be between 80 and 150 years. Ninety percent of our HD patients are CJ, as are 27% of the HD patients in Israel, although the CJ comprise only 1.4% of the Israeli population. Our findings suggest a higher prevalence of HD among CJ compared to the general Israeli population and are consistent with a recent founder mutation. We recommend a higher degree of suspicion for HD in CJ with subtle clinical findings.