Renal Abnormalities Research Articles

Adult patients treated for bladder exstrophy at a young age: What are their current demands?

Bladder exstrophy-epispadias complex is a rare condition that necessitates numerous surgical procedures during a patient's youth to achieve adequate urine storage and continence. This study aimed to identify the specific needs and functional challenges faced by adults who underwent pediatric bladder exstrophy reconstructions and assessing the management of these issues in an adult population. A retrospective chart review was conducted for all bladder exstrophy complex patients who underwent surgery at a young age and were subsequently referred to our center between 2005 and 2020. Inclusion criteria included patients with cloacal or classical bladder exstrophy older than 18 years. We recorded the reasons for referral, management of contemporary complaints, types of past and present urinary reconstructions, and their current functional status. The study included 38 patients. The primary reasons for referral were incontinence (39%) and catheterization difficulties (24%). Management typically involved partial or complete surgical revision of their urinary reservoir, occasionally combined with a bladder neck procedure. Ultimately, only three patients continued to experience incontinence, while none reported catheterization issues after they underwent treatment at our center. Long-term exstrophy-related reconstruction complications included urinary tract infections (39%), stones (29%), stenosis (24%), fistulas (13%), chronic renal disease (16%), metabolic abnormalities (3%), and cancer (3%). Adults who previously underwent bladder exstrophy reconstruction exhibit a wide range of urologic reconstructions. Their needs often revolve around continence and catheterization concerns. Most patients with satisfactory functional outcomes perform selfcatheterization through a continent cutaneous channel and have either a continent pouch or an augmented bladder.

Renal sinus fat is associated with intrarenal hemodynamic abnormalities independent of visceral fat in patients with chronic kidney disease

ObjectiveObesity is a risk factor of chronic kidney disease (CKD), contributing to the rising incidence of cardiometabolic diseases. Renal sinus fat (RSF) is an ectopic fat depot located at the renal cavity that could impair renal function and hemodynamic through compression of renal structures. The major purpose of this study was to explore the relationship between RSF accumulation and renal dysfunction in CKD patients. MethodsWe evaluated the associations between computed tomography measured RSF volume and key clinical and histologic parameters involved in renal function and hemodynamics in 132 well-characterized CKD patients who underwent renal biopsy (median age: 62 years; 63.6% men). ResultsRSF volume normalized by renal volume (RSF%) positively correlated with obesity-related traits such body mass index and visceral fat volume (VFV) (all P < 0.001) whereas it negatively correlated with estimated glomerular filtration rate (eGFR) (ρ = −0.42, P < 0.001) and 24-h urinary creatinine clearance (CCr) (ρ = −0.34, P < 0.001). Notably, we found robust positive correlations between RSF% and renal resistive index (RRI) measured by the Doppler ultrasound (ρ = 0.40, P < 0.001), and the histological severity of global glomerular sclerosis (ρ = 0.48, P < 0.001) and interstitial fibrosis and tubular atrophy (IFTA) (ρ = 0.35, P < 0.001). In the multivariate linear regression models, after accounting for potential confounders including VFV, RSF% remained significantly associated with CCr (β = −0.26, P < 0.001), RRI (β = 0.17, P = 0.022), global glomerular sclerosis (β = 0.21, P = 0.002), and IFTA (β = 0.17, P = 0.012). ConclusionRSF accumulation is associated with renal dysfunction and hemodynamic abnormalities independent of visceral adiposity. Our results suggest that RSF may have a potential unique role in the pathogenesis of CKD.

Structural effect of the H992D/H418D mutation of angiotensin-converting enzyme in the Indian population: implications for health and disease

The Non synonymous SNPs (nsSNPs) of the renin-angiotensin-system (RAS) pathway, unique to the Indian population were investigated in view of its importance as an endocrine system. nsSNPs of the RAS pathway genes were mined from the IndiGenome database. Damaging nsSNPs were predicted using SIFT, PredictSNP, SNP and GO, Snap2 and Protein Variation Effect Analyzer. Loss of function was predicted based on protein stability change using I mutant, PremPS and CONSURF. The structural impact of the nsSNPs was predicted using HOPE and Missense3d followed by modeling, refinement, and energy minimization. Molecular Dynamics studies were carried out using Gromacsv2021.1. 23 Indian nsSNPs of the RAS pathway genes were selected for structural analysis and 8 were predicted to be damaging. Further sequence analysis showed that HEMGH zinc binding motif changes to HEMGD in somatic ACE-C domain (sACE-C) H992D and Testis ACE (tACE) H418D resulted in loss of zinc coordination, which is essential for enzymatic activity in this metalloprotease. There was a loss of internal interactions around the zinc coordination residues in the protein structural network. This was also confirmed by Principal Component Analysis, Free Energy Landscape and residue contact maps. Both mutations lead to broadening of the AngI binding cavity. The H992D mutation in sACE-C is likely to be favorable for cardiovascular health, but may lead to renal abnormalities with secondary impact on the heart. H418D in tACE is potentially associated with male infertility. Communicated by Ramaswamy H. Sarma

INVESTIGATION OF INFLAMMATORY MARKER LEVELS IN OVERACTIVE BLADDER PATIENTS

Aim: To investigate whether inflammation plays a role in the pathogenesis of patients diagnosed with overactive bladder (OAB).&#x0D; Material-Method: Patients who applied to the urology outpatient clinic with a preliminary diagnosis of OAB between March 2022 and September 2023 and were diagnosed were prospectively included in the study. Demographic data of the patients, such as age, gender and body mass index (BMI), were recorded. The number of urgency attacks, pollakiuria and nocturia, OAB-V8 scores (0-40) and the anticholinergics used were recorded. Blood group, whole blood and biochemical values measured from peripheral blood at outpatient clinic admissions, among the inflammation markers neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), lymphocyte-monocyte ratio (LMR), C reactive protein/albumin (CRP/Albumin) ratio and Deritis (AST/ALT) ratios were recorded.&#x0D; Patients with urinary tract infection, renal function test abnormalities, and patients with a history of previous urological surgery were excluded from the study. Patients who presented to the outpatient clinic with non-OAB were included as the control group. Hemogram and biochemical values of these patients were also recorded.&#x0D; Data recorded at baseline were compared between groups.&#x0D; Results: A total of 198 patients were included in the study (OAB group n: 99, control group n: 99). The mean age of all patients was 52.3±15 years, and the mean OAB-V8 score was 11.9±9.9.&#x0D; No statistically significant difference was observed between the groups in terms of gender and blood group. No statistically significant difference was observed between the groups in terms of hemoglobin, hematocrit, lymphocyte, platelet, AST, ALT, albumin, NLR, LMR, PLR, Deritis, MLR and CRP/albumin ratio. The mean age of the OAB group was found to be significantly higher than the control group (p

A Case of Auricle Deformity With 2nd Branchial Cleft Anomaly in Patient With Branchio-Otic Syndrome

Branchio-oto-renal (BOR) Syndrome is a rare autosomal dominant genetic disorder characterized by features such as branchial arch anomalies, hearing loss, preauricular fistula, auricular malformations, and renal abnormalities. Also, BOR syndrome without renal anomalies is referred to as branchio-otic syndrome. In this report, we present a case of a 50-year-old female patient with bilateral type 2 branchial arch anomalies, both preauricular fistula, bilateral inner ear malformations, bilateral sensorineural hearing loss, and right auricular malformation. The patient underwent surgical treatment. This report is the first documentation in Korea of auricular malformation in BOR syndrome, where the patient’s family exhibited a typical autosomal dominant inheritance pattern.

Micronutrients intake and genetic variants associated with premature ovarian insufficiency; MASHAD cohort study

Background and aimpremature ovarian insufficiency (POI) is defined as the menopause before 40 years of age, and its prevalence is reported to be two-fold higher in Iranian women than the average for woman globally. POI is associated with several cardio/cerebrovascular complications as well as an increased overall mortality. Genetic factors, and serum levels of minerals and vitamin D, have been reported to be related to the prevalence of POI. We have investigated the association between some POI -related genotypes with the serum levels of some important micronutrients.MethodsOne hundred and seventeen women with POI and 183 controls without any renal, hepatic, and thyroid abnormalities were recruited as part of the MASHAD study. Demographic and anthropometric features were recorded and blood samples were collected and processed. DNA was extracted from the buffy coat of blood samples from all participants and 8 POI-related single nucleotide polymorphisms (SNPs) were determined using ASO-PCR or Tetra ARMS-PCR. Serum minerals and vitamin D concentrations were measured using routine methods.ResultsIn women with POI, serum copper, phosphate, and calcium were significantly different for those with rs244715, rs16991615, and rs4806660 genotypes, respectively. In our control population, significant differences were also found in serum copper concentrations between different genotypes of rs4806660, rs7246479, rs1046089, and rs2303369. After adjusting for all confounding factors, the women with POI carrying TC genotype (rs4806660) had a lower risk to have serum copper levels < 80 (µg/dL) than those carrying a TT genotype. Furthermore, women with POI carrying GG genotype (rs244715) had a 6-fold higher risk to have serum copper levels > 155 than those carrying AA genotype.ConclusionThe C and G alleles of the rs4806660 and rs244715 polymorphisms respectively are independently associated with serum copper in women with POI. Further studies are necessary to investigate the association of serum copper and other micronutrients in women and other POI -related polymorphisms.

Continuing Home Oral Hypoglycemic Medications Was Associated With Superior Postoperative Glycemic Control Versus Initiating Sliding Scale Insulin After Total Hip Arthroplasty.

This retrospective study investigated the impact of continuing vs discontinuing home oral hypoglycemic medications for patients with diabetes undergoing total hip arthroplasty. Patients who were not exclusively receiving home oral hypoglycemic regimens were excluded. Additionally, patients whose diabetes was not managed inpatient postoperatively were excluded. Included patients were retrospectively evaluated for early postoperative glycemic control, renal function, and metabolic abnormalities. Patients were then compared based on whether their home oral hypoglycemic regimen was continued vs discontinued in favor of initiating insulin while inpatient and analyzed using multivariable regression analysis. A total of 532 patients undergoing total hip arthroplasty met inclusion criteria, with 78.6% continuing their home oral hypoglycemic regimen. Those who continued showed significantly lower median maximum inpatient blood glucose (178.5 mg/dL vs 249.5 mg/dL; P<.001) and median average inpatient blood glucose (138.4 mg/dL vs 178.6 mg/dL; P<.001). Linear regression analysis, adjusting for various potential confounding factors, revealed a positive correlation between discontinuation of home hypoglycemic medications and higher maximum in-patient blood glucose (β=70.15 [95% CI, 59.27-81.03]; P<.001). Patients in the continuation group had lower proportions of acute kidney injury (18.7% vs 41.2%; P<.001) and metabolic acidosis (4.3% vs 17.5%; P<.001), along with a shorter length of stay (1.0 vs 2.0 days; P<.001). These findings suggest that continuing a home oral hypoglycemic regimen for patients with diabetes after total hip arthroplasty is associated with superior glycemic control without exacerbating renal abnormalities or increasing metabolic complications. [Orthopedics. 2024;47(5):276-282.].

Monoterpene linalool restrains gentamicin-mediated acute kidney injury in rats by subsiding oxidative stress, apoptosis, and the NF-κB/iNOS/TNF-α/IL-1β pathway and regulating TGF-β.

The clinical use of gentamicin (GM) is restricted by its nephrotoxic effects. This study aimed for the first time to elucidate the ameliorative effects of the monoterpene linalool (Lin) against GM-mediated acute kidney injury in rats. A total of thirty-two rats were subdivided into four equal groups: control (saline), Lin (100mg/kg/day), GM (100mg/kg/day), and GM + Lin (100 and 100mg/kg/day). Lin and GM were intraperitoneally administered for 12 days. Our results illustrated that Lin ameliorated GM-mediated renal histopathological abnormalities and reduced serum urea and creatinine levels in rats exposed to GM. Lin treatment mitigated oxidative stress in nephrotoxic animals as manifested by reducing serum and renal levels of malondialdehyde and increasing the activities of serum and renal glutathione peroxidase and renal catalase. Moreover, Lin markedly inhibited GM-triggered inflammation by downregulating NF-κB, iNOS, TNF-α, and IL-1β and reducing renal myeloperoxidase activity and nitric oxide levels. Interestingly, Lin repressed GM-induced apoptosis, as reflected by a marked downregulation of Bax and caspase-3 expression, concurrent with the upregulation of Bcl2 expression. Finally, Lin administration led to a significant downregulation of TGF-β expression in nephrotoxic animals. In summary, Lin ameliorated GM-mediated nephrotoxicity in rats, at least through its antioxidant, anti-inflammatory, and anti-apoptotic activities and by modulating TGF-β.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. The patient phenotypic spectrum includes developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities. We demonstrate that WDR44 variants associated with more severe disease impair ciliogenesis initiation and ciliary signaling. Because WDR44 negatively regulates ciliogenesis, it was surprising that pathogenic missense variants showed reduced abundance, which we link to misfolding of WDR autonomous repeats and degradation by the proteasome. We discover that disease severity correlates with increased RAB11 binding, which we propose drives ciliogenesis initiation dysregulation. Finally, we discover interdomain interactions between the WDR and NH2-terminal region that contains the RAB11 binding domain (RBD) and show patient variants disrupt this association. This study provides new insights into WDR44 WDR structure and characterizes a new syndrome that could result from impaired ciliogenesis.

Cadmium Induces Kidney Iron Deficiency and Chronic Kidney Injury by Interfering with the Iron Metabolism in Rats.

Cadmium (Cd) is a common environmental pollutant and occupational toxicant that seriously affects various mammalian organs, especially the kidney. Iron ion is an essential trace element in the body, and the disorder of iron metabolism is involved in the development of multiple pathological processes. An iron overload can induce a new type of cell death, defined as ferroptosis. However, whether iron metabolism is abnormal in Cd-induced nephrotoxicity and the role of ferroptosis in Cd-induced nephrotoxicity need to be further elucidated. Sprague Dawley male rats were randomly assigned into three groups: a control group, a 50 mg/L CdCl2-treated group, and a 75 mg/L CdCl2-treated group by drinking water for 1 month and 6 months, respectively. The results showed that Cd could induce renal histopathological abnormalities and dysfunction, disrupt the mitochondria's ultrastructure, and increase the ROS and MDA content. Next, Cd exposure caused GSH/GPX4 axis blockade, increased FTH1 and COX2 expression, decreased ACSL4 expression, and significantly decreased the iron content in proximal tubular cells or kidney tissues. Further study showed that the expression of iron absorption-related genes SLC11A2, CUBN, LRP2, SLC39A14, and SLC39A8 decreased in proximal tubular cells or kidneys after Cd exposure, while TFRC and iron export-related gene SLC40A1 did not change significantly. Moreover, Cd exposure increased SLC11A2 gene expression and decreased SLC40A1 gene expression in the duodenum. Finally, NAC or Fer-1 partially alleviated Cd-induced proximal tubular cell damage, while DFO and Erastin further aggravated Cd-induced cell damage. In conclusion, our results indicated that Cd could cause iron deficiency and chronic kidney injury by interfering with the iron metabolism rather than typical ferroptosis. Our findings suggest that an abnormal iron metabolism may contribute to Cd-induced nephrotoxicity, providing a novel approach to preventing kidney disease in clinical practice.

A Single Centre Retrospective Study to Access the Frequency of Congenital Anomalies in a Tertiary Care Hospital

Objectives: The objective of our study was to determine the frequency and types of congenital fetal anomalies among pregnant patient in tertiary care hospital. Methodology: This is descriptive, cross sectional retrospective study conducted in obstetrics and gynecology and radiology department of HBS General hospital Islamabad from January 2021 to January 2023.It includes all booked and unbooked antenatal patients Results: Over a period of two years total 3723 antenatal patients included in our study out of which 2.01% were diagnosed with congenitally structurally malformed fetuses. Commonly observed congenital abnormality in our study was CNS anomaly which was observed in 26 patients followed by congenital cardiac defects (16 patients), renal abnormality in 8 patients, and skeletal anomalies in 6 patients and respiratory tract anomalies in 2 patients. Conclusion: Congenital anomalies are a major cause of stillbirth and infant mortality. Patients history of medical disorders, previous anomalous baby, consanguinity, advanced maternal age and drug history have strong association with congenital fetal anomalies.

Impact of inhibition of the renin-angiotensin system on early cardiac and renal abnormalities in Sprague Dawley rats fed short-term high fructose plus high salt diet.

The combination of a high fructose and high salt diet typical of western diet induces high blood pressure, aortic stiffening, left ventricular (LV) diastolic dysfunction and impaired renal function in rodents. Despite an activated renin-angiotensin system (RAS) in rats fed high fructose and high salt, acute inhibition of the RAS pathway does not improve cardiac and vascular parameters. It may well be that longer term treatment is required to permit remodeling and improve cardiovascular function. Thus, we hypothesized that chronic RAS inhibition fructose+high salt-fed rats to restore blood pressure (BP) to levels similar to glucose plus normal salt-fed controls will improve cardiorenal function and histopathology. Male and female Sprague Dawley rats monitored by hemodynamic telemetry were fed 0.4% NaCl chow during baseline, then changed to chow containing either 20% glucose+0.4% NaCl (G) or 20% fructose+4% NaCl (F) and treated with vehicle, enalapril (Enal, 4 mg/kg/d) or losartan (Los, 8 mg/kg/d) by osmotic minipump for 25-26 days. BP was elevated in the fructose+high salt groups of both sexes (P < 0.05) and restored to control levels by Enal or Los. Pulse wave velocity (PWV) was lower in female F+Los rats and cardiac output higher in female F+Enal rats. GFR was not changed by diet or treatment. Fructose+high salt groups of both sexes displayed higher albuminuria that was decreased by Enal in male rats. Cardiac fibrosis and mesangial hypercellularity were greater in fructose+high salt-fed rats of both sexes and improved with either Los or Enal. Thus, inhibition of the RAS improves early changes in cardiac and renal histopathology in both sexes and albuminuria in male rats fed high fructose and high salt diet. Functional improvements in cardiorenal parameters may require longer treatment.

Protein-losing enteropathy: is it Crohn's disease?

Case of a 24-year-old woman presenting due to edema in lower extremities. The patient had had infectious mononucleosis three weeks prior and had medical history of suspicion of Crohn's disease (CD) (due to a non-specific ileocolitis in a colonoscopy/EnteroRM). No ongoing medication. Laboratory evaluation unveiled hypoproteinemia with severe hypoalbuminemia, no renal abnormalities. A PLE was assumed, with post-infectious or CD being the most likely culprits. Alternative causes were extensively excluded. A videocapsule revealed white-tipped or granular villi, some white nodular villi and diffuse edema of the mucosa, and multiple extensive erosions and superficial ulcers in the jejunum and proximal ileum, not suggestive of CD. A push enteroscopy revealed unspecific histopathology. After incomplete response to enteral nutrition, corticotherapy was initiated resulting in sustained improvement. A follow-up Ileocolonoscopy and double balloon enteroscopy revealed no abnormalities. Six months post-treatment, the patient remains asymptomatic, with unremarkable laboratory results and no need for medication.

Non-malignant left colon emergency surgery: evaluation of factors affecting clinical outcomes and complications.

Emergency colorectal resections hold a significant position in general surgical practice, and pathologies of the left colon are relatively common. This study was conducted to assess the outcomes of isolated left colon surgeries with benign etiologies, drawing on clinicopathological and biochemical data. We carried out a retrospective review and statistical analysis of demographic, clinical, and laboratory data of patients who underwent left colon surgery at the general surgery clinic of a tertiary care hospital, excluding those with malignancy-related emergencies, from January 2017 to January 2022. The average age of the 48 patients in the study was 56.9±16.4 years. Complicated acute diverticulitis was the most frequent indication for emergency surgery (n=19, 39.6%). The Hartmann procedure was the surgical technique most often employed (n=30, 62.5%). The rates of postoperative morbidity and mortality within 30 days were 27.1% and 8.3%, respectively. Increased postoperative morbidity was linked to advanced age (mean 65.4±15.8 vs. 53.8±15.7, p=0.028), the preoperative administration of vasopressors, lower platelet counts, hypoalbuminemia (<3 mg/dl), and azotemia (blood urea nitrogen >20 mg/dl). There was no statistically significant correlation between comorbidities, American Society of Anesthesiologists (ASA) scores, surgical methods, or other clinical data and postoperative outcomes. For emergency colorectal surgery pertaining to left colon pathologies, it is critical to conduct a comprehensive evaluation in the perioperative period, especially for elderly and hypotensive patients with renal function abnormalities and for those requiring vasopressors.

Recent Advances in Renal Denervation

Abstract Renal sympathetic nerves contribute to the occurrence and progression of cardiovascular diseases. However, the role of renal denervation in cardiovascular diseases is questionable because clinical studies of renal denervation in hypertension are inconsistent. The renal artery nerves contain not only the sympathetic afferent but also efferent nerve fibers. Incorrect ablation position may lead to an opposite outcome. Some patients or even healthy individuals exhibit renal artery abnormalities. The accurate ablation of the renal sympathetic nerves depends on complete anatomy and precise positioning. Fortunately, the current renal artery stimulation technology can screen a section of renal sympathetic nerves. Renal denervation methods such as ultrasound and microwave ensure proper peripheral ablation. Shorter ablation time, less endothelial damage, precise sympathetic nerve positioning, and complete nerve ablation are the future prospects. This review discusses the existing evidence on renal artery and renal sympathetic nerve anatomy, renal denervation techniques, and future trends.

A prospective phase II single-arm study and predictive factor analysis of irinotecan as third-line treatment in patients with metastatic gastric cancer.

Currently, there is no recommended standard third-line chemotherapy for metastatic gastric cancer. In this study, we aimed to evaluate irinotecan's efficacy and safety in treating metastatic gastric cancer after the failure of first- and second-line chemotherapy. Prospective single-arm, two-center, phase II trial. Patients were aged 18-70 years, with histologically confirmed gastric adenocarcinoma and an Eastern Cooperative Oncology Group performance status of 0-1, progressed during or within 3 months following the last administration of second-line chemotherapy and had no other severe hematologic, cardiac, pulmonary, hepatic, or renal functional abnormalities or immunodeficiency diseases. Eligible patients received 28-day cycles of irinotecan (180 mg/m2 intravenously, days 1 and 15) and were assessed according to the RECIST 1.1 criteria every two cycles. Patients who discontinued treatment for any reason were followed up every 2 months until death. The primary endpoint was overall survival (OS), and the secondary endpoints were progression-free survival (PFS), objective response rate (ORR), disease control rate (DCR), and toxicity. A total of 98 eligible patients were enrolled in this study. In the intention-to-treat population, the median OS was 7.17 months, the median PFS was 3.47 months, and the ORR and DCR were 4.08% and 47.96%, respectively. In the per-protocol population, the median OS was 7.77 months, the median PFS was 3.47 months, and the ORR and DCR were 4.82% and 50.60%, respectively. The incidence of grade 3 or 4 hematological and non-hematological toxicities was 19.4%, and none of the patients died owing to adverse events. Cox regression analysis revealed neutropenia and baseline thrombocyte levels were independently correlated with PFS and OS. Irinotecan monotherapy is an efficient, well-tolerated, and economical third-line treatment for patients with metastatic gastric cancer as a third-line treatment. ClinicalTrials.gov identifier: NCT02662959.

Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities.

To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome. We retrospectively reviewed 46 singleton pregnancies with anomalies in the urinary system who underwent amniocentesis from Feb 2022 to October 2023 in the Prenatal Diagnosis Center of Lianyungang Maternal and Child Health Hospital. These fetuses were subjected to chromosomal microarray analysis (CMA) and/or trio whole-exome sequencing (Trio-WES). We specifically evaluated these cases' prenatal renal ultrasound findings and clinical characteristics of the affected parents. Three fetuses were diagnosed as 17q12 microdeletions, and the detection rate was 6.5% in fetuses with anomalies in the urinary system (3/46). The heterogeneous deletions range from 1.494 to 1.66Mb encompassing the complete hepatocyte nuclear factor 1 homeobox B (HNF1B) gene. Fetuses with 17q12 deletion exhibited varied renal phenotypes. Moreover, the clinical phenotypes of the affected parents differed greatly in the two cases (case 2 and case 3) in which the deletion was inherited. For case 3, the mother manifested classic symptoms of 17q12 deletion syndrome as well as unreported characteristics, such as very high myopia. Our findings demonstrate the necessity and significance of offering prenatal genetic testing when various renal anomalies are detected. In addition, our study broadens the phenotypic spectrum of 17q12 deletions. Most importantly, our findings may allow timely supportive genetic counseling and guidance for pregnancy in affected families, e.g., with the help of preimplantation genetic testing (PGT).

Identification of Kidney Disorders in Decentralized Healthcare Systems through Federated Transfer Learning

This research introduces a pioneering approach to address the intricate challenge of identifying kidney abnormalities in medical imaging. By synergizing the strengths of transfer learning and federated learning (FL), the study propels the evolution of diagnostic capabilities within decentralized healthcare systems. Within the realm of patient data privacy, the federated transfer learning architecture operates harmoniously, collectively learning from geographically dispersed renal imaging datasets. This collaborative strategy empowers healthcare providers to unite their efforts while retaining ownership of their individual databases. This innovative methodology holds immense promise for augmenting the precision and efficacy of renal abnormality detection in medical imaging. Leveraging the wealth of knowledge embedded in transfer learning models, the approach adapts and refines these insights for the specific nuances of renal imaging data. This adaptive learning process occurs without compromising patient confidentiality and fortifies data security. This convergence of deep learning, federated learning, and transfer learning represents a transformative leap in healthcare. By facilitating a more efficient, compassionate, and decentralized approach to managing kidney-related health issues, this study charts a compelling path toward the future of medical image analysis. In doing so, it not only addresses the current challenges in identification of renal abnormality but also paves the way for a new era of collaborative and privacy-preserving healthcare solutions in decentralized healthcare systems.

Association of Severity and Type of Pain with Urolithiasis in Adults: A Computed Tomography Urographic Study

Background: Urolithiasis, a prevalent urological condition, especially in areas with warm and dry climates, poses significant healthcare challenges. In Pakistan, part of the "stone-forming belt," the incidence of urolithiasis is consistent with global prevalence rates. Understanding the demographic and clinical presentation patterns is essential for improving diagnostic and treatment strategies. Objective: The study aimed to determine the prevalence and characteristics of asymptomatic urolithiasis in adult patients and to evaluate the efficacy of multidetector computed tomography (MDCT) in detecting urinary tract stones and associated abnormalities. Methods: This cross-sectional study was conducted over four months at the University of Lahore Teaching Hospital's Radiology Department. A total of 112 adult patients aged between 18 to 70 years with symptoms indicative of urinary tract abnormalities were included using a convenience sampling technique. Siemens 64-slice MDCT was employed for diagnosis. The chi-square test and Fisher's Exact Test were utilized for statistical analysis to assess the association between urolithiasis and clinical symptoms, with p-values less than 0.05 considered significant. Results: Out of 112 patients, the prevalence of asymptomatic stones was 2.8%. Bladder stones were identified in 16 patients (14.3%) with a size range of 3-12 mm (mean 7.5 mm, S/D ratio 2.6). Ureteric stones were found in a subset of patients, with sizes ranging from 6-28 mm (mean 13.8 mm, S/D ratio 4.1). The prevalence of hydronephrosis was 39.9% for the left kidney, 26.1% for the right kidney, and 10.9% for bilateral presentation. Non-stone-related findings requiring treatment were identified in 14% of patients undergoing MDCT for renal colic. Conclusion: The study confirmed the prevalence of urolithiasis within the expected range for a high-risk geographic area. MDCT urography proved to be a valuable diagnostic tool in detecting not only urolithiasis but also other significant renal tract abnormalities. The results indicate a need for improved public health strategies, particularly for the at-risk older adult population.

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

The objective of this work was to identify phenotypic features and cytogenetic aspects of trisomy 13 in Moroccan population. The retrospective study was conducted on a group of 9 cases diagnosed cytogenetically with trisomy 13. The study of sex ratio showed a slight female dominance in our group of cases. The major clinical findings included: Holoprosencephaly, microphthalmia and anophthalmia, coloboma of iris, cleft lip and palate, nasal and ear abnormalities, retrognathism and sloping forehead, polydactyly, capillary hemangiomas, omphalocele, congenital heart defect, renal abnormalities, cryptorchidism, language delay. The cytogenetic study showed the dominance of the free and homogeneous trisomy 13 (56%). Patients who have this formula are dead at an early age (does not exceed one month). However, each of the chromosomal formula, trisomy 13 by translocation and partial trisomy 13 t (13;18), was found in 20% of our patients. The partial trisomy 13 t (13;18) is the only variant that is still alive and the patients with this anomaly suffer mainly from renal and cardiac anomalies with slight dysmorphia and psychomotor retardation. Our study shows the interest of the cytogenetic analysis in the diagnosis accuracy and in the genetic counseling of patients with Patau syndrome and their parents.