Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.

RATIONALE & OBJECTIVE: Genetic etiologies have been identified among approximately 10% of adults with chronic kidney disease (CKD). However, data are lacking regarding the prevalence of monogenic etiologies especially among members of minority groups. This study characterized the genetic markers among members of an Israeli minority group with end-stage kidney disease (ESKD). STUDY DESIGN: A national-multicenter cross-sectional study of Israeli Druze patients (an Arabic-speaking Near-Eastern transnational population isolate) who are receiving maintenance dialysis for ESKD. All study participants underwent exome sequencing. SETTING & PARTICIPANTS: We recruited 94 adults with ESKD, comprising 97% of the total 97 Druze individuals throughout Israel being treated with dialysis during the study period. PREDICTORS: Demographics and clinical characteristics of kidney disease. OUTCOME: Genetic markers. ANALYTICAL APPROACH: Whole-exome sequencing and the relationship of markers to clinical phenotypes. RESULTS: We identified genetic etiologies in 17 of 94 participants (18%). None had a previous molecular diagnosis. A novel, population-specific, WDR19 homozygous pathogenic variant (p.Cys293Tyr) was the most common genetic finding. Other monogenic etiologies included PKD1, PKD2, type IV collagen mutations, and monogenic forms of noncommunicable diseases. The pre-exome clinical diagnosis corresponded to the final molecular diagnosis in fewer than half of the participants. LIMITATIONS: This study was limited to Druze individuals, so its generalizability may be limited. CONCLUSIONS: Exome sequencing identified a genetic diagnosis in approximately 18% of Druze individuals with ESKD. These results support conducting genetic analyses in minority populations with high rates of CKD and for whom phenotypic disease specificity may be low. PLAIN-LANGUAGE SUMMARY: Chronic kidney disease (CKD) affects many people worldwide and has multiple genetic causes. However, there is limited information on the prevalence of genetic etiologies, especially among minority populations. Our national-multicenter study focused on Israeli Druze patients. Using exome-sequencing, we identified previously undetected genetic causes in nearly 20% of patients, including a new and population-specific WDR19 homozygous pathogenic variant. This mutation has not been previously described; it is extremely rare globally but is common among the Druze, which highlights the importance of studying minority populations with high rates of CKD. Our findings provide insights into the genetic basis of end-stage kidney disease in the Israeli Druze, expand the WDR19 phenotypic spectrum, and emphasize the potential value of genetic testing in such populations.

Safety and efficacy of biliary suprapapillary metal and plastic stents in malignant biliary obstruction: a systematic review and meta-analysis.

BACKGROUND AND AIMS: Biliary drainage is vital in managing malignant biliary obstruction (MBO). Suprapapillary stenting has emerged as a viable alternative to transpapillary stenting and is performed using inside plastic (iPS) or metal stents (iMS). This meta-analysis aims to evaluate the outcomes of suprapapillary stent placement for MBO. METHODS: The Embase, PubMed, and Web of Science databases were systematically searched to include all studies published before September 31, 2023, that reported on the outcomes of suprapapillary stents placed for MBO. Using the random-effect model, the pooled, weight-adjusted event rate estimate for the clinical outcomes was calculated with 95% confidence intervals (CIs). RESULTS: Twenty-eight studies were included, with a total of 1401 patients. The pooled clinical success rate was 98.9%. A subgroup analysis yielded non-significant differences between the iPS and iMS groups (99.3% vs. 98.6%, respectively; P = 0.44). The pooled incidence rate of adverse events (AE) with suprapapillary stents was 9.5%. In a subgroup analysis, the incidence of AEs with iPS was 10.7% compared to 9% in the iMS group without a statistical difference (P = 0.32). The most common adverse event was cholangitis (2.2%), followed by pancreatitis (1.1%), cholecystitis (0.5%), and bleeding (0.12%). CONCLUSION: When technically feasible, suprapapillary stenting for MBO is a viable endoscopic option with a high clinical success rate and acceptable adverse event rates. Both iPS and iMS exhibit similar efficacy.

Efficacy of endoscopic resuturing versus pharmacotherapy to treat weight recidivism after endoscopic sleeve gastroplasty.

BACKGROUND AND AIMS: A subset of patients experience weight recidivism after primary endoscopic sleeve gastroplasty (P-ESG). Available options for management of weight regain include initiation of antiobesity medications (AOMs) or redo ESG (R-ESG). The comparative effectiveness of these options is not clear. METHODS: This was a retrospective analysis of a prospectively maintained database of patients undergoing ESG. From 2013 to 2021, 79 patients who were started on AOM or underwent R-ESG for management of weight recidivism after P-ESG were included. The primary outcome of this study was final total body weight loss (TBWL) at the end of follow-up. RESULTS: Fifty-five patients were started on AOM and 24 patients underwent R-ESG. Age, gender distribution, and baseline body mass index did not differ significantly between groups. The proportion of noncompliant patients (defined as patients who missed their first post-ESG follow-up visit) was significantly higher in the AOM group compared with the R-ESG group (67% vs 35%, P = .012). The additional TBWL after R-ESG was significantly (both clinically and statistically) better than after initiation of AOM (9.5% ± 7.2% vs 2.1% ± 8.6%, respectively; P = .001). Final TBWL clearly favored R-ESG over AOM for treatment of weight recidivism (19.9% ± 10.4% vs 13.6% ± 9.2%, P = .028). CONCLUSIONS: R-ESG is an effective treatment to induce weight loss after experiencing weight recidivism. These results highlight an important advantage of ESG as a repeatable minimally invasive procedure.

Haptoglobin phenotype among patients with IgA nephropathy: Impact on disease progression and response to treatment.

BACKGROUND: IgA nephropathy (IgAN) is characterized by proteinuria, hypertension, and decreased glomerular filtration rate at the time of diagnosis. However, the underlying mechanism is still obscure. The impact of haptoglobin (Hp) phenotype, as a genetic risk factor, on the progression of IgAN has not been studied yet. The current study examines whether Hp phenotype influences IgAN progression and response to treatment. MATERIALS AND METHODS: The study included 40 patients with IgAN, 26 non-IgAN chronic kidney disease (CKD), 114 patients on hemodialysis, and 150 healthy subjects. Blood and urine samples were collected at baseline and 6 months after initiation therapy. Serum creatinine, total proteinuria, and Hp phenotype were determined in all patients and healthy controls. RESULTS: Approximately 17% of IgAN patients were Hp 1-1, 40% Hp 2-1, and 42.5% Hp 2-2. In contrast, in non-IgAN CKD patients, the prevalence of Hp 1-1, Hp 2-1, and Hp 2-2 was 8%, 19%, and 73%, respectively. In hemodialytic patients, prevalence of Hp 1-1, Hp 2-1, and Hp 2-2 was 10.5, 49.1, and 40.4%, respectively. In healthy subjects, the distribution of Hp 1-1, Hp 2-1, and Hp 2-2 was 7, 39, and 54%, respectively. Interestingly, IgAN Hp 2-2 and Hp 2-1 patients were more stable and responded better to treatment with routine therapy than other patients with Hp phenotype. CONCLUSION: The prevalence of Hp 1-1 phenotype is higher in IgAN patients than in the general population in Israel, and even more than in patients with CKD or subjects on hemodialysis. Patients with Hp 2-2 exhibited a better renal response to the routine therapies.

Nootkatone confers hepatoprotective and anti-fibrotic actions in a murine model of liver fibrosis by suppressing oxidative stress, inflammation, and apoptosis.

In this study, the hepatoprotective and anti-fibrotic actions of nootkatone (NTK) were investigated using carbon tetrachloride (CCl4 )-induced liver fibrosis in mice. CCl4 administration elevated serum aspartate and alanine transaminases levels, respectively. In addition, CCl4 produced hepatic oxidative and nitrative stress, characterized by diminished hemeoxygenase-1 expression, antioxidant defenses, and accumulation of 4-hydroxynonenal and 3-nitrotyrosine. Furthermore, CCl4 administration evoked profound expression of pro-inflammatory cytokine expressions such as tumor necrosis factor-α, monocyte chemoattractant protein-1, and interleukin-1ß in hepatic tissues, which corroborated with nuclear factor κB activation. Additionally, CCl4 -treated animals exhibited higher apoptosis, characterized by increased caspase 3 activity, DNA fragmentation, and poly (ADP-ribose) polymerase activation. Moreover, histological and biochemical investigations revealed marked fibrosis in the livers of CCl4 -administered animals. However, NTK treatment mitigated CCl4 -induced phenotypic changes. In conclusion, our findings suggest that NTK exerts hepatoprotective and anti-fibrotic actions by suppressing oxidative stress, inflammation, and apoptosis.

Does Ramadan Fasting Affect Hydration Status and Kidney Function in CKD Patients?

BACKGROUND/AIMS: This study is the first of its kind to examine the impact of the Ramadan fasting on hydration status, plasma brain natriuretic peptide (BNP) levels, and kidney function in chronic kidney disease (CKD) patient. METHODS: This prospective cohort study included 2 groups of patients with CKD grades 2-4: thirty-one Muslim patients who fasted the month of Ramadan (fasting group) and 26 Muslim patients who did not fast (control group). One week before the Ramadan fast, in the last week of the month of Ramadan (4 weeks), and 4 weeks after the end of the Ramadan month (8 weeks), hydration status and blood analysis of urea, creatinine and BNP levels were measured. RESULTS: Among fasting patients, serum urea levels increased significantly (p = 0.024) during the last week of fasting and returned to basal levels at 4 weeks after the end of the Ramadan month, the estimated glomerular filtration rate did not change significantly at the end of fasting (p = 0.411), the hydration status indices and plasma BNP levels were significantly decreased after fasting (p ≤ 0.021) but returned to basal values 4 weeks thereafter. CONCLUSIONS: Patients with CKD grades 2-4 can fast throughout the month of Ramadan with no significant deterioration of renal functions and with a reasonable degree of safety.

Does low peritoneal glucose load protect from the development of left ventricular hypertrophy in peritoneal dialysis patients?

BACKGROUND: Left ventricular hypertrophy (LVH) is a major predictor of the development of cardiovascular events that is considered the main cause of morbidity and mortality in peritoneal dialysis (PD) patients. This study aimed to evaluate retrospectively the impact of low peritoneal glucose load on left ventricular mass (LVM) in PD patients. METHODS: 36 patients who were on continuous ambulatory PD for at least a period of 2 years enrolled in the study. Of them, 23 patients received only glucose-based solutions (GBS) [high peritoneal glucose load group (HPGL group)] from the start of PD, and 13 patients received AAS in combination with GBS when their serum albumin decreased to levels <3.5 g/dl [low peritoneal glucose load group (LPGL group)]. AAS was substituted with 1.36 % GBS when serum albumin rose to ≥3.5 g/dl and restarted when serum albumin fell to <3.5 g/dl. Medical history, physical findings, echocardiographic, laboratory and hydration status data from the first month of PD and after 24 months, were obtained from each patient's medical records. RESULTS: Mean LVM index (LVMI) increased in both groups (p ≤ 0.010). The increment in mean LVMI was higher in HPGL group compared to LPGL group (p = 0.006). At 24 months: peritoneal glucose load index (PGLI), fluid overload, mean arterial pressure (MAP), HbA1c and hsCRP were higher in HPGL group (p ≤ 0.010), while 24 h ultrafiltration, weekly Kt/V, serum albumin levels and RRF were higher in LPGL group (p ≤ 0.025). The increment (Δ between the values of each parameter from the start of PD and after 24 months) in PGLI, fluid overload, MAP, HbA1c and hsCRP values were higher in HPGL group (p < 0.001). CONCLUSIONS: Low peritoneal glucose load may be associated with a protective effect from the development of LVH in PD patients.

Effects of carnitine on oxidative stress response to intravenous iron administration to patients with CKD: impact of haptoglobin phenotype.

BACKGROUND: Anemia is a common disorder in CKD patients. It is largely attributed to decreased erythropoietin (EPO) production and iron deficiency. Therefore, besides EPO, therapy includes iron replenishment. However, the latter induces oxidative stress. Haptoglobin (Hp) protein is the main line of defense against the oxidative effects of Hemoglobin/Iron. There are 3 genotypes: 1-1, 2-1 and 2-2. Hp 2-2 protein is inferior to Hp 1-1 as antioxidant. So far, there is no evidence whether haptoglobin phenotype affects iron-induced oxidative stress in CKD patients. Therefore, the present study examines the influence of carnitine treatment on the intravenous iron administration (IVIR)-induced oxidative stress in CKD patients, and whether Hp phenotype affects this response. TRIAL REGISTRATION: Current Controlled Trials ISRCTN5700858. This study included 26 anemic (Hb = 10.23 ± 0.28) CKD patients (stages 3-4) that were given a weekly IVIR (Sodium ferric gluconate, [125 mg/100 ml] for 8 weeks, and during weeks 5-8 also received Carnitine (20 mg/kg, IV) prior to IVIR. Weekly blood samples were drawn before and after each IVIR for Hp phenotype, C-reactive protein (CRP), advanced oxidative protein products (AOPP), neutrophil gelatinase-associated lipocalin (NGAL), besides complete blood count and biochemical analyses. RESULTS: Eight percent of CKD patients were Hp1-1, 19 % Hp2-1, and 73 % Hp2-2. IVIR for 4 weeks did not increase hemoglobin levels, yet worsened the oxidative burden as was evident by elevated plasma levels of AOPP. The highest increase in AOPP was observed in Hp2-2 patients. Simultaneous administration of Carnitine with IVIR abolished the IVIR-induced oxidative stress as evident by preventing the elevations in AOPP and NGAL, preferentially in patients with Hp2-2 phenotype. CONCLUSIONS: This study demonstrates that Hp2-2 is a significant risk factor for IVIR-induced oxidative stress in CKD patients. Our finding, that co-administration of Carnitine with IVIR preferentially attenuates the adverse consequences of IVIR, suggests a role for Carnitine therapy in these patients.

Predictors of left ventricular hypertrophy and their cutoffs in peritoneal dialysis patients.

Cardiovascular complications are the main cause of morbidity and mortality in peritoneal dialysis (PD) patients. Left ventricular hypertrophy (LVH) is a major predictor of the development of cardiovascular events. This study aimed to identify risk factors that contribute to the development of LVH and to determine their cutoffs in patients on maintenance peritoneal dialysis.In this cross sectional study we evaluated the association of 23 variables including age, PD vintage, ultrafiltration, urine volume, residual renal function, mean daily SBP, mean daily DBP, fasting glucose, HbA1c, peritoneal glucose load index (PGLI), fluid overload (FO), plasma brain natriuretic peptide (BNP), plasma hsCRP and IL-6, serum albumin, white blood cell (WBC) count, hemoglobin, hematocrit, triglycerides, LDL-C (low density lipoprotein cholesterol), HDL-C (high density lipoprotein cholesterol), and PTH with LVH in 38 stable patients on maintenance PD ≥ 24 months.LVH was detected in 57.9% of patients. Logistic regression and receiver operating characteristics (ROC) analysis revealed that HbA1c, PGLI, FO, plasma BNP, hsCRP and IL-6 seem to be possible predictors of LVH. The cutoffs associated with the presence of LVH were: 7.5%, 3.2 g/kg/day, 1.7 L, 330 pg/mL, 7.5 mg/dL and 3.3 pg/mL for HbA1c, PGLI, FO, plasma BNP, hsCRP and IL-6, respectively (sensitivity 72.8 to 81.8% and specificity 75.0 to 93.8%).The results suggest that efforts should be made to reduce the peritoneal glucose load (PGL), to improve the hydration status, and to attenuate the inflammatory process in order to reduce the risk of the development of LVH among PD patients.

The impact of glucose load on left ventricular mass in peritoneal dialysis patients.

BACKGROUND: Cardiovascular (CV) complications are the main cause of morbidity and mortality in peritoneal dialysis (PD) patients. Left ventricular hypertrophy (LVH) is a well-known major CV risk factor. AIM: To evaluate the impact of peritoneal glucose load on left ventricular mass (LVM) in PD patients. METHODS: In this cross sectional study the glucose load and LVM were evaluated in 43 stable patients on maintenance PD for 24 - 78 months. Glucose load was calculated using a unique peritoneal glucose load index (PGLI) referred to g/kg/day glucose given in the daily PD prescription. LVM index (LVMI) was calculated using the Devereux et al. formula. RESULTS: The PGLI was positively correlated with HbA1c and LVMI (p < 0.001). Patients with PGLI > 3 g/kg/day had higher HbA1c and LVMI compared to those with PGLI ≤ 3 g/kg/day (p < 0.001). CONCLUSIONS: Higher PGLI values were associated with worse glycemic control and increased LVMI. Efforts should be made to minimize the PGL. All other risk factors that may contribute to the development of LVH in PD patients should be identified and treated. Additional multicenter, randomized control trials are needed to determine the target objectives of PGLI.

Endoscopic Ultrasound-guided Jejunocolostomy for Management of Refractory Severe Obesity in a Post-gastric Bypass Patient.

Obesity is a complex disease process, which often requires multifactorial, patient-tailored strategies for effective management. Treatment options include lifestyle optimization, pharmacotherapy, endobariatrics, and bariatric metabolic endoscopy. Obesity-based interventions can be challenging in patient populations with severe obesity, particularly post-gastric bypass. We report the case of a non-surgical patient with a failed remote open gastric bypass, who underwent an endoscopic small bowel diversion procedure, resulting in partial caloric diversion, via the creation of an EUS-guided jejunocolostomy (EUS-JC). The procedure is an extension of prior reported EUS-guided and magnet-based small bowel bypass procedures, in this case, for the purposes of weight loss (Kahaleh et al., 1; Jonica et al. Gastrointest Endosc. 97(5):927-933, 2; Machytka et al. Gastrointest Endosc. 86(5):904-912, 3;). The procedure was performed without peri-procedural complications, with effective weight loss during follow-up. Endoscopic bariatric interventions that target the small bowel, such as EUS-JC, offer promising tools for obesity management and should be studied further. Numerous factors including lifestyle, psychosocial, genetic, behavioral, and secondary disease processes contribute to obesity. Severe obesity (defined as a BMI > 50 kg/m2) is associated with increased morbidity and mortality with a significantly reduced response to treatment (Flegal et al. JAMA. 309(1):71-82, 4;). Weight regain can be noted in up to 50% of patients post-RYGB. In populations with severe obesity, there is an associated 5-year surgical failure rate of 18% (Magro et al. Obesity Surg. 18(6):648-51, 5;). These patients may not be surgical candidates for revision or can develop post-revision chronic protein-caloric malnutrition (Shin et al. Obes Surg. 29(3):811-818, 6;). Lifestyle, modification, pharmacotherapy, or endoscopic transoral reduction (TORe) can be effective generally; however, in patients with severe obesity, the total desired excess body weight loss may not likely be accomplished solely by these strategies. An endoscopic small bowel intervention that diverts a portion of caloric intake from small bowel absorption can potentially promote weight loss similar to a surgical lengthening of the Roux limb (Shah et al. Obes Surg. 33(1):293-302, 7; Hamed et al. Annal Surg. 274(2):271-280, 8;), in the sense that there is a reduction in the total small bowel surface area for absorption. Roux limb distalization can be effective for weight regain for post bypass patients. The EUS-JC technique aims to work similarly by reducing the total small bowel surface area utilized for absorption. Since this patient was deemed a non-surgical candidate, an EUS-guided jejunocolostomy was offered. Prior to the procedure, the patient established longitudinal care with our bariatric nutritionist and obesity medicine services. Extensive pre-bariatric labs were screened to rule out confounders for recurrent severe obesity. Intra-procedure, the patient received one dose of 500 mg intravenous levofloxacin. Post-procedure, loperamide was prescribed every 8 h as needed for post-procedure diarrhea. Within 2 weeks, the patient was no longer taking anti-diarrheals. The post-procedure diet consisted of a liquid diet for 2 days before advancement to a low-residue diet for 1 month, and then a regular diet.

The national burden of inflammatory bowel disease in the United States from 1990-2019: results from the Global Burden of Disease study database.

Background: Inflammatory bowel disease (IBD) epidemiology has changed rapidly in recent years. We aimed to provide a systematic report of the burden of IBD at a state level in the United States (US), and to study the age- and sex-specific trends of incidence, prevalence and mortality rates for the past 3 decades. Methods: Using the Global Burden of Disease (GBD) 2019 Study Database, we examined the incidence, prevalence and mortality rate, and the disability-adjusted life-years from GBD 2019 at national and state level from 1990-2019. Results: There was an overall decrease in incidence and prevalence rates of IBD in the US from 1990-2019, while a simultaneous increase in the overall mortality rates was identified. However, a distinct trend of increasing incidence and prevalence rates emerged starting in 2000, with incidence rates rising from 21 cases per 100,000 persons in 2000 to 23 cases per 100,000 persons in 2019. From 1990-2019, incidence and prevalence decreased in males at a higher rate than in females. However, mortality rates increased more in females than males. Incidence rates were highest in Midwestern and Eastern states, and were lowest across the northern Great Plains and Western states, with the highest incidence noted in Michigan (31 cases per 100,000 persons). California had the greatest decrease in incidence rates from 1990-2019 (-63.3%). Conclusion: Our results concerning recent trends and geographic variations in IBD offer policymakers crucial insights for informed decision-making in policy, research, and investment, facilitating more effective strategies and allocation of resources.

Alcoholic cardiomyopathy mortality and social vulnerability index: A nationwide cross-sectional analysis.

Background: Social vulnerability index (SVI) plays a pivotal role in the outcomes of cardiovascular diseases and prevalence of alcohol use. We evaluated the impact of the SVI on alcoholic cardiomyopathy (ACM) mortality. Methods: Mortality data from 1999 to 2020 and the SVI were obtained from CDC databases. Demographics such as age, sex, race/ethnicity, and geographic residence were obtained from death certificates. The SVI was divided into quartiles, with the fourth quartile (Q4) representing the highest vulnerability. Age-adjusted mortality rates across SVI quartiles were compared, and excess deaths due to higher SVI were calculated. Risk ratios were calculated using univariable Poisson regression. Results: A total of 2779 deaths were seen in Q4 compared to 1672 deaths in Q1. Higher SVI accounted for 1107 excess-deaths in the US and 0.05 excess deaths per 100,000 person-years (RR: 1.38). Similar trends were seen for both male (RR: 1.43) and female (RR: 1.67) populations. Higher SVI accounted for 0.06 excess deaths per 100,000 person-years in Hispanic populations (RR: 2.50) and 0.06 excess deaths per 100,000 person-years in non-Hispanic populations (RR: 1.46). Conclusion: Counties with elevated SVI experienced higher ACM mortality rates. Recognizing the impact of SVI on ACM mortality can guide targeted interventions and public health strategies, emphasizing health equity and minimizing disparities.

EUS-guided Braun-type enteroenterostomy for management of an afferent limb-type obstruction in a patient with prior surgical gastrojejunostomy.

Video 1Case presentation of EUS-guided Braun-type enteroenterostomy for the management of an afferent limb-type obstruction in a patient with prior surgical gastrojejunostomy.

Emerging trends and applications of metabolomics in food science and nutrition.

The study of all chemical processes involving metabolites is known as metabolomics. It has been developed into an essential tool in several disciplines, such as the study of plant physiology, drug development, human diseases, and nutrition. The field of food science, diagnostic biomarker research, etiological analysis in the field of medical therapy, and raw material quality, processing, and safety have all benefited from the use of metabolomics recently. Food metabolomics includes the use of metabolomics in food production, processing, and human diets. As a result of changing consumer habits and the rising of food industries all over the world, there is a remarkable increase in interest in food quality and safety. It requires the employment of various technologies for the food supply chain, processing of food, and even plant breeding. This can be achieved by understanding the metabolome of food, including its biochemistry and composition. Additionally, Food metabolomics can be used to determine the similarities and differences across crop kinds, as an indicator for tracking the process of ripening to increase crops' shelf life and attractiveness, and identifying metabolites linked to pathways responsible for postharvest disorders. Moreover, nutritional metabolomics is used to investigate the connection between diet and human health through detection of certain biomarkers. This review assessed and compiled literature on food metabolomics research with an emphasis on metabolite extraction, detection, and data processing as well as its applications to the study of food nutrition, food-based illness, and phytochemical analysis. Several studies have been published on the applications of metabolomics in food but further research concerning the use of standard reproducible procedures must be done. The results published showed promising uses in the food industry in many areas such as food production, processing, and human diets. Finally, metabolome-wide association studies (MWASs) could also be a useful predictor to detect the connection between certain diseases and low molecular weight biomarkers.

Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.

Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the MYO5B gene, a type Vb myosin motor protein in which rare damaging mutations were previously described to cause MVID. This founder mutation was very rare in public databases and is likely specific to patients of Syrian ancestry. We present a detailed account of both patients' clinical histories to fully characterize the effect of this variant and expand the genotype-phenotype databases for MVID patients from the Middle East.

Evaluating the physical, psychosocial and ergonomic burden of lead aprons among Jordanian interventionists: a nationwide study.

Objectives. This study assessed the physical and psychological burden of lead apron use on Jordanian interventionists and investigated the attitudes and knowledge of interventional personnel toward ergonomic guidelines and practices. Methods. A cross-sectional investigation of a randomly sampled Jordanian cohort of interventional personnel was conducted using a self-administered questionnaire.Results. A nationwide sample of 130 practitioners with a mean 9.3 ± 8.1 years of experience in interventional procedures participated. Practitioners were aware of their apron's weight but not of its lead equivalence (71.5%). More than 60% of respondents complained of back pain. While 66.9% did not develop musculoskeletal pathologies, 64.3% of those with already established musculoskeletal pathologies experienced worse pain due to apron usage. Despite believing in the effect of lead aprons on muscular strain and work performance, 78.5% adhere to its usage. In terms of ergonomics, only 39.2% were aware of ergonomic guidelines; however, 90.0% believe that ergonomic practices are essential as 49.2% have experienced discomfort due to bad ergonomics. In terms of psychological burden, anxiety and depression were suggested in 16.4 and 21.6% of the sample.Conclusion. Jordanian interventionists portray positive attitudes toward lead aprons; nevertheless, their awareness of ergonomic practices warrants the implementation of evidenced-based interventions.

Acute kidney injury associated with metamizole sodium ingestion.

Metamizole sodium, a nonsteroidal anti-inflammatory drug, has been widely used in the last 100 years. Its efficacy as an analgesic and antipyretic is unquestionable. Only few cases of acute kidney injury (AKI) induced by metamizole sodium were reported in the medical literature. We report 11 adult patients with AKI that resulted from metamizole sodium ingestion. The data suggest a good prognosis in these cases of AKI. Renal biopsies, corticosteroids treatment, or renal replacement therapy seem to be not necessary. Hydration was sufficient to ensure spontaneous recovery.