RYR 1 Foundation

Mutations in the ryanodine receptor type 1 (RYR1) gene are amongst the most common causes of early-onset, non-dystrophic neuromuscular disorders. RYR1 mutations have also anecdotally been implicated in non-skeletal muscle symptoms such as an increased bleeding tendency particularly prominent in females, but the prevalence of these features is currently unknown. In this questionnaire-based study, we aimed to evaluate smooth muscle function, bleeding, obstetric, and gynaecological outcomes in RYR1-variant carrying females. Questions were developed using a modified version of the MCMDM-1VWD questionnaire, and the NHS-heavy periods self-assessment tool. Obstetric and gynaecological symptoms explored included pregnancy-related complications, gestation length, parturition duration, post-partum haemorrhage and offspring birthweight. Recruitment was online via the RYR1-Foundation patient support group and covered countries across the world. We identified 66 RYR1-variant carrying females and 88 non-mutated controls including unaffected relatives and the general healthy population. Women with RYR1 variants exhibited a higher incidence of pathological bleeding scores (p < 0.0001), severe menstrual bleeding, complications during pregnancy (preeclampsia and placenta praevia), frequent planned Caesarean sections, offspring with lower birthweight, and gastrointestinal symptoms, compared to controls. Considering their population frequency in otherwise pauci-symptomatic individuals, RYR1 variants ought to be considered as a cause of unexplained menorrhagia and other gynaecological and obstetric manifestations.

Background: Dressing of post-surgical procedures was mainly dependent on Povidone iodine and saline gauze dressing, with longer hospital stay and more frequent dressing times which lead to increase surgical sites infection rates. Patient and Methods: This study is an observational prospective comparative cross-sectional hospital-based study, was conducted at Omdurman Maternity Hospital from November 2020 till August 2021. Data were collected by standardized questionnaire and analyzed by using SPSS version 20. Results: A total of 196 patients who satisfied the inclusion criteria were included in the study,(95) patients were undergone a povidone iodine dressing and (101) patients were on Hydrocolloid dressing. The mean age of recruited patients was found to be 31 ± 5.6 SD years; the age range was (15-47) years. The most encountered symptom in day zero and day 7 was abdominal pain (89%), which was more in povidone iodine dressing patients (50%, p value &lt; 0.0001). The most encountered symptom in day two was the abdominal pain (34.5%) similarly; it was more in povidone iodine dressing group (25%, p value &lt; 0.0001). The most encountered sign in day seven and day 14 was surgical site tenderness (40%, 32% respectively), and it found to be more in povidone iodine dressing group in days seven (27%, p value 0.008) and day 14 (24%, p value 0.0001). P value was also scientifically significant in wound exudate and Fever, as Povidone iodine dressing showed higher percentages compared to hydrocolloid dressing. 17% of patients showed complete healing days 0f &lt;6 days, 87% of them were of hydrocolloids dressing type (P value &lt; 0.0001). Sixty percent of Hydrocolloid dressing patients retained their activity within (8-14) days postoperatively with significant satisfaction and 53% of povidone iodine patients retained their more than 2 weeks postoperative (P value &lt; 0.0001). The mean total cost of dressing including the dressing frequency and nurse feasting hydrocolloid dressing ........