Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.

Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.

Transumbilical laparoendoscopic single-site donor nephrectomy: evolving trends.

BACKGROUND: We report our experience with laparoendoscopic single-site donor nephrectomy (LESS DN). METHODS: Retrospective comparative study of data from 200 Consecutive left LESS DN (group A) compared to 205 consecutive conventional laparoscopic donor nephrectomy (LDN) (group B). Standard laparoscopic instruments were used in all patients. Right nephrectomies were excluded. RESULTS: From 05/2015 to 12/2017, 200 LESS DN (group A) and from 10/2011 till 04/2015, 205 LDN (group B) were performed. In group A and B, respectively, the mean operative time was 175.9 ± 24.9 versus 199.88 ± 37.06 min (p = 0.0001), the mean warm ischemia time was 5.2 ± 1.02 versus 3.64 ± 1.38 min (p = 0.0001), the mean BMI was 24.8 ± 4.5 versus 25.2 ± 4.7 kg/m2, complex vascular anatomy was found in 60 (30%) and 68 (33.2%), average length of incision was 5.2 versus 7.7 cm (p = 0.001), scar satisfaction rate 8 versus 6 (p = 0.004), mean morphine equivalents 81.0 versus 70.5 mg; (p = 0.03), average timing for return to work was 42 versus 50 days; (p = 0.001). There was no conversion to open surgery in both groups. One case converted to hand-assisted laparoscopic nephrectomy in group A. Pure LESS-DN was successfully completed in 169 patients (84.5%). In group A, due to technical difficulties, additional 1 or 2, 5-mm port(s) was added in 21 and 10 cases, respectively. Two negative explorations were performed in the first post-operative week for picture of small bowel obstruction. We had port site hernia in one donor, superficial wound infection in three donors and blood transfusion was required in two donors in group A. CONCLUSIONS: Our experience with LESS-DN is encouraging. LESSDN can be integrated as a standard approach for renal donation without additional donor risk. Moreover, LESS DN gives more flexibility by possibility to add one or more 5-mm ports in case of technical difficulties.

Prophylactic Sclerotherapy for Lymphatic Complications After Living Donor Renal Transplant: A Single-Center Experience.

OBJECTIVES: Lymphocele formation after kidney transplant is a common complication that causes significant morbidity. In this study, we aimed to evaluate the safety and effectiveness of intraoperative prophylactic povidone-iodine sclerotherapy through the closed suction drain to prevent lymphocele after kidney transplant. MATERIALS AND METHODS: In this retrospective comparative single-institution study, we compared patients who underwent intraoperative prophylactic povidone-iodine sclerotherapy through the closed suction drain (group A) with patients who did not receive sclerotherapy (group B). Patients were treated between September 2017 and July 2023. Atthe end of the kidney transplant surgery, after the closure of the external oblique muscle layer and before skin closure, 10 mL of 10% povidone-iodine in 40 mL of normal saline were instilled via the closed suction drain and dwelled in the cavity for 30 minutes. RESULTS: During the study period, 300 living-related donor kidney transplants were performed. Prophylactic povidone-iodine sclerotherapy was performed in 150 patients (50%).We noted a significantly lower incidence of lymphorrhea and lymphocele in group A. On postoperative days 1 and 5, we noted a significant reduction in drain output in group A (P < .001). One patient in group A and 5 patients in group B required ultrasonography-guideddrainage andpovidone-iodine sclerotherapy. No sclerotherapy-related complications were reported after a median follow-up of 16 months (range, 3-29 months). CONCLUSIONS: Intraoperative prophylactic povidoneiodine sclerotherapy appears to be an easy, safe, and effective procedure for preventing lymphatic complications after living donor kidney transplant.

Laparo-Endoscopic Single-Site Left Donor Nephrectomy In Patients With Uncommon Renal Vascular Anatomy: Does the Technique Make a Difference?

BACKGROUND: To compare donor and recipient outcomes in patients with renal artery and ante-aortic renal vein vs unusual renal vascular anatomy undergoing laparoendoscopic single-site donor nephrectomy (LESSDN). METHODS: A retrospective chart review of the comparative study of donor and recipient outcomes of LESSDN in donors with venous abnormality (n = 28, group A), arterial abnormality (n = 74, group B), and standard donors (n = 248, group C). RESULTS: From September 2016 to August 2022, 350 left LESSDN were performed. The most common anomalies in group A were the retro-aortic and 2 renal veins in 12 patients each. In group B, 72 and 2 patients had 2 and 3 renal arteries, respectively. Operative and warm ischemia times were significantly longer in donors with vascular anomalies. Moreover, patient creatinine on discharge was significantly higher in arterial anomalies; it was 1.61 ± 0.22 compared with 1.26 ± 0.43 and 1.25 ± 0.32 mg/dL for patients with no anomalies and venous anomalies, respectively (P < .001). However, serum creatinine levels recovered after 1 month and were comparable between the study groups. Recipients, operative time, and vascular anastomosis time were significantly longer in recipients with vascular anomaly. Slow graft function was higher in group B (6.9%) than in the other groups. One-year graft survival rates were 96.4%, 94.6%, and 97.1% (P = .496). CONCLUSION: With increased experience, LESSDN in multiple renal arteries and uncommon venous anatomy cases is feasible and safe. Moreover, it does not influence donor or recipient outcomes.

Successful Completion of Left Laparoendoscopic Single-Site Donor Nephrectomy in a Patient with Duplicated Inferior Vena Cava: Case Report and Review of Literature.

Duplication of the inferior vena cava is a rare vascular anomaly that increases the complexity of living donor nephrectomy and subsequent transplant. We present the case of a successful left-side laparoendoscopic single-site donor nephrectomy performed in a donor with a duplicated inferior vena cava. The length of the left renal vein was adequate for anastomosis in the recipient, with no late surgical complications at 9 months for both donor and recipient. Duplicated inferior vena cava is not a contraindication for left kidney transplant. Preoperative assessment and planning with computed tomography angiography are essential. Laparoendoscopic single-site donor nephrectomy can be performed safely in patients with duplicated inferior vena cava.

Knowledge, Attitude, and Barriers Toward Deceased Organ Donation Among Health Care Professionals and Medical Students in Southern Saudi Arabia: A Cross-Sectional Study.

OBJECTIVES: Knowledge and attitude of health care professionals and medical students are crucial to promoting positive outcomes of organ donation. This study aimed to evaluate knowledge and attitudes of health care professionals and medical students on organ donation in Southern Saudi Arabia. MATERIALS AND METHODS: We conducted a cross-sectional study of consented tertiary hospital health care professionals (n = 200) (group A) and medical students (n = 200) (group B) in Southern Saudi Arabia from December 2022 to April 2023. Anonymous questionnaires in aGoogle form were sentto participants via WhatsApp. The study questionnaire consisted of 3 sections: sociodemographic information, knowledge toward organ donation, and attitude toward organ donation. RESULTS: Both groups had adequate knowledge on organ donation and brain death concepts, but this knowledge was not reflected in willingness to donate among the groups. Among people surveyed, 65% of group A and 45% of group B (P < .001) noted willingness to donate their organs, even to relatives. However, only 22% of group A and 14% of group B were registered as donors. The most common reasons for refusal in both groups were lack of knowledge about donation, fear of body disfigurement after death, and religious factor. Among the health care professionals (group A), although consultants knew more about the donation process, residents had more positive attitudes and motivation for donation. For groups A and B, the primary sources of information were the internet and social media. CONCLUSIONS: Attitudes of medical students and health care personnel toward organ donation were positive, although they were generally reluctantto donate their organs. This study repeats the need for education interventions that should stress the importance of donation, brain death irreversibility, national legal regulations for organ donation, the compatibility of organ donation with religious values, and the explanation of inaccurate beliefs.

Urinary Bladder Traversed by Peritoneal Dialysis Catheter and Discovered Accidently During Living Donor Kidney Transplant: A Case Report and Review of the Literature.

Peritoneal dialysis is a well-established renal replacement therapy for end-stage renal disease. Insertion of a peritoneal dialysis catheter has inherent complication risks. We present a case of a triple-cuff peritoneal dialysis catheter that traversed the urinary bladder on its way to its final destination and was discovered 3 months later during living donor kidney transplant. We observed a 22-year-old male patient on peritoneal dialysis who was admitted for living related kidney transplant. Intraoperatively, we discovered that the well-functioning peritoneal dialysis catheter was inserted through the urinary bladder. Diagnostic intraoperative cystogram and cystoscopy were conducted. Open removal of the peritoneal dialysis catheter and repair of entry and exit sites were performed. The postoperative course was uneventful, and the patient was discharged 11 days postoperatively with a functioning graft. Bladder catheterization before peritoneal dialysis catheter insertion, even in low-risk patients, is mandatory, to avoid bladder perforation. In addition to the case report, we reviewed the pertinent literature.

Recurrent Urinary Tract Infection in Living Donor Renal Transplant Recipients and the Role of Behavioral Education Program in Management: A Single-Center Experience.

BACKGROUND: Urinary tract infections (UTIs) are the most prevalent type of kidney transplant (KT) recipients. We aimed to investigate the incidence, causes, and clinical impact of early recurrent UTI post-living donor KT and to examine the role of behavioral education program in management. METHODS: This retrospective cohort chart-review study included all KT recipients with recurrent UTI necessitating hospital admission between September 2017 and August 2021. All patients with recurrent UTI were subjected to behavioral education for a month. RESULTS: UTI was found in 14 of 145 patients (9.6%), with recurrent UTI in 11 (7.6%). A total of 93% of UTIs occurred during the first 6 months post-transplant and represented 52% of KT readmissions during the same period. A total of 64.3% of patients were older than 50 years. The mean (SD) length of hospital stay was 5 (2.5) days, with an equal incidence in both sexes. The most common bacterial isolates in early recurrent UTI were Escherichia coli in 80.9%. Both Extended-spectrum beta-lactamases and multidrug-resistant organisms (resistance in ≥3 drugs) were seen in 82.4% of isolates. Furthermore, the most effective antibiotic was meropenem, with 86.7% effectiveness. A total of 65% of UTIs were managed with a single antibacterial course. A total of 64.3% of patients were older than 50 years. In patients who developed UTI, the mean (SD) serum creatinine was 1.31 (0.52) mg/dL, with a mean increase in serum creatinine of 0.19 mg/dL on having the episodes; at 1 year post-transplant, serum creatinine declined to 1.23 (0.43) mg/dL. Four patients (36%) had no recurrence of UTI after behavioral education. CONCLUSIONS: The multidrug-resistant bacterial isolates account for 82.4% of the UTIs. Therefore, antibiotic prescription should follow the antimicrobial stewardship guidelines. Behavioral education significantly reduced the incidence of recurrent UTI.

The Outcome of COVID-19 Infection on Kidney Transplantation Recipients in Southern Saudi Arabia: Single-Center Experience.

BACKGROUND: To report the incidence, risk factors, and outcome of severe COVID-19 disease in kidney transplant recipients attending a Saudi hospital at a single center in the Kingdom of Saudi Arabia. METHODS: A retrospective chart-based cohort study involving all kidney transplant recipients tested for COVID-19 in the Armed Forces Hospital Southern Region, KSA. RESULTS: Of 532 kidney transplant recipients who reported to the center, from March 2020 to June 2022, 180 were tested for COVID-19. Of these recipients, 31 (17%) tested positive. Among the 31 positive recipients, 11 were treated at home, 15 were admitted to the noncritical isolation ward, and 5 were admitted to the intensive care unit (ICU). Older age (P = .0001), higher body mass index (P = .0001), and history of hypertension (P = .0023) were more frequent in the COVID-19-positive recipients. Admission to the ICU was more frequent in older recipients (P = .0322) with a history of ischemic heart disease (P = .06) and higher creatinine baseline (P = .08) presenting with dyspnea (P = .0174), and acute allograft dysfunction (P = .002). In the ICU group, 4 (80%) patients required hemodialysis, and 4 (80%) died. CONCLUSIONS: Kidney transplant recipients with COVID-19 could have a higher risk for developing acute kidney injury, dialysis, and mortality than the general population. ICU admission and renal replacement therapy were more evident in older recipients with a history of ischemic heart disease, presenting with shortness of breath (P = .017) and a higher serum creatinine baseline. Acute allograft dysfunction was the independent predictor of mortality among patients admitted to the ICU.

Post-Laparoendoscopic Single-Site Donor Nephrectomy Ipsilateral Testicular Pain, Does Operative Technique Matter? A Single Center Experience and Review of Literature.

Aim: To assess incidence and characteristics of post-laparoendoscopic single-site donor nephrectomy (LESS DN) testicular pain. Materials and Methods: A prospective comparative study of all male donors post-left LESS DN (group A) vs. postopen nephrectomies (group B) was performed at our center. Patients' demographics, perioperative data, and postoperative consultation reports were reviewed. Testicular pain, swelling, numbness, urinary symptoms, and sexual dysfunction were evaluated. Patients with a history of scrotal pathology or surgical procedure were excluded. Pain and tenderness were scored on a standard 10-point scale. Results: From September 2017 to December 2020, 85 and 35 male patients of groups A and B met the evaluation criteria. Ipsilateral testicular pain developed in 11 patients (15.3%) and 2 patients (9.5%) in groups A and B, respectively. In most instances, the pain was mild to moderate in severity, started after 6 ± 2.1 and 4 ± 1.1 days postoperatively in groups A and B, respectively. Six patients in group A were evaluated with transscrotal ultrasonography that showed no abnormalities. All patients in both groups responded well to medical treatment. Conclusions: Post-LESS DN ipsilateral testicular pain is usually mild and self-limited. Preoperative patient education and discussion of the possibility of development of testicular pain and its management should be an integral component of laparoscopic donor nephrectomy informed consent.

Serious Combination of Chronic Non Tamponade Uremic Pericardial Effusion, Hypotension, and Atrial Fibrillation on Living Donor Renal Transplantation: A Case Report and Review of Literature.

Although pericardial effusions are not uncommon in patients with end-stage renal disease, uremic pericardial effusion (UPE) frequently remains unrecognized in the absence of clinical signs and symptoms. We present a case of post-living donor renal transplantation delayed graft function due to asymptomatic undiagnosed chronic nontamponade UPE. The patient developed dramatic intraoperative severe hypotension, electrolyte abnormalities, and atrial fibrillation. Prolonged intraoperative hypotension and allograft hypoperfusion caused mild acute tubular necrosis and postoperative delayed graft function that required 2 weeks to recover. The combination of chronic UPE, even without tamponade, hypotension, and atrial fibrillation could lead to significant hemodynamic instability during renal transplantation. More careful immediate pretransplantation cardiac evaluation and avoidance of intraoperative hypotension could prevent these serious consequences of silent UPE.s.

Belatacept rescue therapy of CNI-induced nephrotoxicity, meta-analysis.

There is growing evidence about the potential favorable effects that can be obtained from converting the administration of calcineurin inhibitors (CNIs) to Belatacept in kidney transplantation recipients. We conducted a meta-analysis to formulate strong evidence from the current literature about this effect on kidney functions, as measured by the estimated glomerular filtration rate (eGFR). Our search was conducted on the following databases: PubMed, Web of Science, Scopus, Embase, Google Scholar, Cochrane library, the clinical trials, and the International Standard Randomized Controlled Trial Number registries to obtain all studies that investigated the effect of post-transplantation CNIs conversion to Belatacept on kidney functions. Thirteen studies were finally included in the current study. The results showed a significant improvement in the eGFR following the conversion as compared to its value prior to it (MD = 10.41; 95% CI = 6.93, 13.90; P-value < 0.001). Although, there was no risk of bias among the pooled studies (P-value = 0.391), there was a significant heterogenity (I 2 = 80%; P value < 0.001). Serum creatinine levels showed no significant change following the conversion as compared to its value prior to it (MD = -1.22; 95% CI = -2.61, 0.16; P-value = 0.083). Nevertheless, a significant heterogeneity among the included studies was observed (I 2 = 87%; P-value = 0.005). Belatacept can be a good alternative to the CNI-based regimens following the kidney transplantation. The conversion to Belatacept resulted in an improvement in eGFR.

Outcome of Kidney Transplantation With Transumbilical Laparoendoscopic Single-Site Donor Nephrectomy: A Single-Center Experience.

AIM: The aim of this study is to present the outcome of kidney transplantation after laparoendoscopic single-site donor nephrectomy (LESS DN) compared with conventional laparoscopic donor nephrectomy (LDN) in a single-center experience. METHODS: This retrospective study compares data from the initial experience with 110 consecutive LESS DN donors and their recipients (group A) with 205 consecutive conventional LDN donors and their recipients (group B). RESULTS: This study compared 110 LESS DNs completed in an 18-month period with 205 LDNs completed in the immediately preceding 42-month period. All procedures were performed by the same surgeon. In groups A and B, respectively, the incidence of immediate graft function was 90% vs 91.2%, slow graft function was 9% vs 5.3%, delayed graft function was 0.9% vs 2.9%, graft loss was 0.9% vs 2.9%, and death with a functioning graft was 0.9% vs 1.5%. The mean serum creatinine levels were 1.3 ± 0.93 mg/dL vs 1.4 ± 1.2 mg/dL (P = .447), 1.1 ± 0.33 mg/dL vs 1.2 ± 0.75 mg/dL (P = .184), and 1.05 ± 0.25 mg/dL vs 1.1 ± 0.39 mg/dL (P = .224) at 7, 30, and 365 days after transplantation. The estimated glomerular filtration rate at 1 year was 88 ± 18.2 vs 83 ± 12.2 mL/min/1.73 m2 (P = .004). The mean donor operative times in groups A and B were 175.9 ± 24.9 minutes vs 199.88 ± 37.06 minutes (P = .0001), respectively, and the mean warm ischemia time was 5.2 ± 1.02 minutes vs 3.64 ± 1.38 minutes, respectively (P = .0001). The mean body mass index, the incidence of complex vascular anatomy, and the rate of complications were the same in the 2 donor groups. CONCLUSIONS: The outcome of kidney transplantation after LESS DN is comparable to conventional LDN. LESS DN can be employed as the primary approach for kidney donation with low donor risk and without compromising recipient outcomes.

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.

Discovery of genotype-phenotype relationships remains a major challenge in clinical medicine. Here, we combined three sources of phenotypic data to uncover a new mechanism for rare and common diseases resulting from collagen secretion deficits. Using a zebrafish genetic screen, we identified the ric1 gene as being essential for skeletal biology. Using a gene-based phenome-wide association study (PheWAS) in the EHR-linked BioVU biobank, we show that reduced genetically determined expression of RIC1 is associated with musculoskeletal and dental conditions. Whole-exome sequencing identified individuals homozygous-by-descent for a rare variant in RIC1 and, through a guided clinical re-evaluation, it was discovered that they share signs with the BioVU-associated phenome. We named this new Mendelian syndrome CATIFA (cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder) and revealed further disease mechanisms. This gene-based, PheWAS-guided approach can accelerate the discovery of clinically relevant disease phenome and associated biological mechanisms.

Data on performance prediction for cloud service selection.

This paper contains data on Performance Prediction for Cloud Service Selection. To measure the performance metrics of any system you need to analyze the features that affect these performance, these features are called " workload parameters". The data described here is collected from the KSA Ministry of Finance that contains 28,147 instances from 13 cloud nodes. It was recorded during the period from March 1, 2016, to February 20, 2017, in continuous time slots. In this article we selected 9 workload parameters: Number of Jobs in a Minute, Number of Jobs in 5 min, Number of Jobs in 15 min, Memory Capacity, Disk Capacity,: Number of CPU Cores, CPU Speed per Core, Average Receive for Network Bandwidth in Kbps and Average Transmit for Network Bandwidth in Kbps. Moreover, we selected 3 performance metrics: Memory utilization, CPU utilization and response time in milliseconds. This data article is related to the research article titled "An Automated Performance Prediction Model for Cloud Service Selection from Smart Data" (Al-Faifi et al., 2018) [1].