Urinary Abnormalities Research Articles

Frequency of urinary metabolic abnormalities in children with renal stone disease.

Objective: The key to preventing morbidity and long-term renal problems is thorough metabolic examination of every child with renal stones. This is meant to assist doctors in creating management protocols that include urine metabolic tests as a key component in an effort to stop stone recurrence. Study Design: Descriptive Cross Sectional study. Setting: Department of Paediatric, National Institute of Child Health, Karachi. Period: January 2021 to February 2022. Material & Methods: To determine how frequently local children with urolithiasis have metabolic problems. A total of 80 children who were aged 4 to 14 years and who had renal stones were included, while those suffering from chronic kidney diseases, liver and biliary tract diseases and children, receiving vitamin D supplementation are excluded. Urine samples were analyzed urinary uric acid, calcium, Demographics and metabolic abnormalities—hypercalciuria, hyperuricosuria analyzed. Results: The study analysis included 80 patients. Seventy one patients (88.8%) had metabolic abnormalities. Most frequent metabolic abnormality was hypercalciuria 60(75%) followed by hyperuricosuria in 52(65%) of participants. There was no significant association observed between metabolic abnormalities and age, gender and BMI classification. Conclusion: Metabolic abnormalities were found 88.8% of children presenting with urinary lithiasis. The most frequent abnormality observed was hypercalciuria followed by hyperuricosuria. Early identification helps manage such patients appropriately, mitigating long-term sequelae.

Zinner Syndrome: Left Unilateral Renal Dysgenesis with Seminal Vesicle Cyst and Ipsilateral Testicular Atrophy Associated with Azoospermia - Case Report

Seminal vesicular cysts associated with ipsilateral renal agenesis or hypoplasia are a rare urological abnormality. This combination of urinary and genital abnormalities occurs due to the closely related embryological origin of these structures from the distal mesonephric duct [Wolff]. This case illustrates the discovery of this malformation in adulthood following chronic pelvic pain associated with infertility. The diagnostic approach consisted of a clinical examination with the performance of a set of imaging examinations including a suprapubic ultrasound, a scanner and an MRI. While the therapeutic management was limited to an ultrasound-guided evacuating puncture of the cyst of the seminal vesicle with a bacteriological and histological analysis of the puncture liquid. Given the complexity of the case, our surgical treatment is mainly aimed at relieving pain by evacuating puncture and offering medically assisted procreation for her infertility. We report the case of a young patient with Zinner's syndrome associated with infertility.

Contribution of Manas in Prameha - A Conceptual Study

The formation of Purusha is influenced significantly by three key factors: Sattva, Atma, and Shareera, with Sattva being equated to the concept of Manas or the mind. When we delve into the meaning of the term "Ayu" or life, it becomes evident that it is a composite of four essential elements: Shareera (body), Indriya (senses), Sattva (mind), and Atma (soul). In a similar vein, when we explore the origin of a disease, we find that there is a reciprocal influence between the mind (Manas) and the body (Shareera), as they are interconnected. Once we establish this mutual relationship, we can better comprehend how diseases develop gradually over time. "Shareera – Sattvaprabhavastu Rogah" conveys that diseases predominantly manifest in both the body and the mind. When the bond between the mind (Manas) and the body (Shareera) permanently separates from the soul (Atma), it results in a complete cure for ailments affecting both the physical and mental aspects. This perspective emphasizes that not only physical causes (Shareerika Nidana) but also mental factors (Manasika Nidana) play a significant role in the onset of a disease. Prameha is one such Vyadhi(disorder) which is often associated with urinary and metabolic abnormalities. There are various Nidana(s) that are inter-related in the manifestation of the condition. Managing Prameha not only involves correction at the levels of the Dosha(s), change in lifestyle but also includes approach for the alteration in the psychological level. Here is an attempt made to understand that not only Shareerika Nidana, but there also is the influence of Manasika Nidana to develop Prameha. i.e., Manas also contributes for the development of Prameha in an individual.

Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study

BackgroundPostinfectious glomerulonephritis with C3-dominant glomerular deposition (C3-PIGN) involves C3-dominant glomerular deposition without immunoglobulin. Atypical C3-PIGN involves persistent hypocomplementemia. We investigated the clinical features and explored complement-related gene mutations in atypical PIGN patients.MethodsWe enrolled atypical C3-PIGN patients and collected data regarding the clinical presentation and pathological characteristics and follow-up data. We measured the levels of complement associated antibodies and performed whole-exome sequencing (WES) to detect mutations in complement-related genes.ResultsThe analysis included six atypical C3-PIGN patients. All patients were antistreptolysin-O (ASO) positive. All patients had varying degrees of hematuria, and four patients had proteinuria. None of the patients were positive for complement-related antibodies. All patients possessed mutations of genes related to the complement pathway, including alternative complement pathway genes—CFI, CFH, CFHR3, CFHR5; the lectin pathway gene—MASP2; and the common complement pathway gene—C8A. The rare variant of CFHR3 has been reported in C3 glomerulonephritis. During 56–73 months of follow-up, the levels of urine markers in three patients recovered within 6 months, and the remaining patients had abnormal urine test results over 12 months. Patients who received glucocorticoid therapy recovered faster.ConclusionsOur study suggested that complement-related gene mutations may be an important cause of persistent hypocomplementemia in atypical C3-PIGN patients. In addition to variations in alternate pathway-related genes, we also found variations in lectin pathway-related genes, especially MASP2 genes. Although the overall prognosis was good, atypical C3-PIGN patients exhibited a longer period for recovery. Our results suggested that atypical C3-PIGN patients should receive more medical attention and need testing for mutations in complement-related genes.

Urinalysis, Malaria Random Diagnostic Methods and Clinical Symptoms in the Prediction of Malaria Parasitaemia among Pregnant Women in Umuahia and Ikwuano, Abia State, Nigeria

This study was targeted at assessing malaria prevalence, clinical symptoms and urine abnormalities associated with malaria in pregnancy. A cross-sectional study involving 250 pregnant women selected from five healthcare facilities in three local government areas of Abia state, was conducted. Data were collected using pre-tested structured questionnaires and patients’ blood and urine samples collected. Thick and thin blood films microscopy as well as malaria random kits were used to diagnose malaria. Medi-test combi 9 urine test strip was used to check urine abnormalities. Data were analysed using SPSS version 26. An overall malaria prevalence of 56% (95% CI: 0.42-0.60) was observed. Of the five centres, the highest prevalence was reported at PHC III in Umuahia North LGA with prevalence at 72% (95% CI: 0.51-0.98), while the lowest was reported at PHC IV in Umuahia North LGA with a prevalence of 36% (95% CI: 0.21-0.49). Pregnant women who had headache (OR=3.316, p=0.009, 95% CI: 1.288-7. 400), catarrh (OR=3.972, p=0.032, 95% CI: 1.028-15.352) and fever (OR=9.459, p<0.001, 95% CI: 3.767-23.753) had higher odds of malaria infection, compared to those without headache, catarrh and fever. Malaria was largely recorded among the primigravids 71% (53/75), followed by the secundigravidae 61% (43/70) and the least, observed among the multigravidae 43% (45/105). High malaria prevalence was observed among subjects who did not use preventive measures (100%) with the least observed among subjects, using window nets (22%). Malaria among subjects in this study is significantly prevalent. Proteinuria, bilirubinuria, urobilinogenuria as well as amber and clear urine macroscopy showed significant associations with malaria in pregnancy; thus, women with these clinical features should be further tested for malaria even in asymptomatic states to prevent the negative consequences of malaria in pregnancy.

Initial Experience of Cutaneous Continent Urinary Diversion by Modified Penn Pouch Technique: Is It More Expedient than Ileal Conduit?

Introduction: In the current clinical practice, following cystectomy, either due to malignant or benign pathologies, the most common urinary diversion is in the form of ileal conduit. Quality of life is markedly decreased in patients with ileal conduit as they have to carry an external appliance with the poorest self-images that significantly reduce the desires of all forms of physical contact (sexual and non-sexual). Here we describe the initial experience of cutaneous continent urinary diversion following cystectomy that provides the patients with an external appliance-free life with good functional outcomes of the reservoir. Methods : The hospital records of 6(six) patients during a period of 5 months were reviewed retrospectively who underwent cutaneous continent urinary diversion in Dhaka Medical College Hospital, Dhaka and Center for Kidney Diseases & Urology Hospital, Dhaka. Out of 6 (six) patients, 5(five) underwent radical cystectomy for muscle-invasive bladder cancer, and 1(one) patient underwent simple cystectomy for exstrophy bladder. For the creation of the reservoir modified Penn pouch technique was applied, and the appendix was used as a catheterizable cutaneous stoma for the continent mechanism. A peri-operative and short periods of postoperative outcomes, including complications, quality of life assessment, continence and ability to empty the reservoir by selfcatheterization, was recorded. Results : Among the 6 (six) patients, 5 (five) cases were following radical cystectomy for muscle-invasive bladder cancer, and 1 (one) was following simple cystectomy for exstrophy bladder. After a median follow-up of 6 weeks, the continence rate was 100%. All patients (100%) could empty the neo-bladder by self-catheterization every 4-8 hours. Patients were highly satisfied with this stoma as they could avoid external appliances. Conclusion : Cutaneous continent urinary diversion is a successful method of neobladder construction following cystectomy for urinary bladder malignancy or severe functional and anatomical urinary bladder abnormalities with excellent functional outcomes. It needs skilled surgical techniques, and the decision on this method used should depend upon the indications and contraindications of surgery like renal functional status, patient anatomy, the physical and physiological condition of the patients and personal choice. Bangladesh J. Urol. 2022; 25(1): 7-13

Prevalence of urinary abnormality, electrolytes disorders and renal insufficiency in COVID-19 patients in affiliated hospitals of Islamic Azad University, Tehran Medical Sciences, 2019-2022

Prevalence of urinary abnormality, electrolytes disorders and renal insufficiency in COVID-19 patients in affiliated hospitals of Islamic Azad University, Tehran Medical Sciences, 2019-2022

Urinary creatinine concentration and urine color as indicators of specimen validity test

In this study, the concentration of urinary creatinine (Cr) and urine color were analyzed, and a correlation obtained, to objectively verify normal urine samples prior to forensic drug testing. Cr was analyzed via a colorimetric method based on the Jaffé reaction using a Cobas C-311 analyzer (Roche SA, Basel, Switzerland; Hitachi, Tokyo, Japan). The Cr concentration for urine specimen validity testing was measured to screen urine samples submitted after dilution or upon the addition of a foreign substance that interferes with drug testing. Urine samples containing < 20 mg/dL of Cr were classified as abnormal. The Korea Standard Color Analysis program was used for urine color analysis and correlations with Cr concentration analyzed. The color and Cr concentration of 271 urine samples were analyzed according to age and sex. The mean ± standard deviation of Cr concentration in males and females was 136.4 ± 66.2 mg/dL and 109.5 ± 71.1 mg/dL, respectively, with a statistically insignificant difference (p = 0.4554). Furthermore, the participants were categorized into young (19–34 years), middle-aged (35–49 years), and elderly (≥ 50 years) groups to compare Cr concentration; however, no significant difference was found (p = 0.2143–0.983). Strong variable correlations were identified between Cr and the characteristics of urine color. Despite various factors such as water consumption, health problems, and vitamins, urine color was found applicable for urine specimen validity testing. Future plans include the development of a smartphone camera application for use in urine color analysis to identify abnormal urine samples.

Febrile infants risk score at triage (FIRST) for the early identification of serious bacterial infections

We aimed to derive the Febrile Infants Risk Score at Triage (FIRST) to quantify risk for serious bacterial infections (SBIs), defined as bacteremia, meningitis and urinary tract infections. We performed a prospective observational study on febrile infants < 3 months old at a tertiary hospital in Singapore between 2018 and 2021. We utilized machine learning and logistic regression to derive 2 models: FIRST, based on patient demographics, vital signs and history, and FIRST + , adding laboratory results to the same variables. SBIs were diagnosed in 224/1002 (22.4%) infants. Among 994 children with complete data, age (adjusted odds ratio [aOR] 1.01 95%CI 1.01–1.02, p < 0.001), high temperature (aOR 2.22 95%CI 1.69–2.91, p < 0.001), male sex (aOR 2.62 95%CI 1.86–3.70, p < 0.001) and fever of ≥ 2 days (aOR 1.79 95%CI 1.18–2.74, p = 0.007) were independently associated with SBIs. For FIRST + , abnormal urine leukocyte esterase (aOR 16.46 95%CI 10.00–27.11, p < 0.001) and procalcitonin (aOR 1.05 95%CI 1.01–1.09, p = 0.009) were further identified. A FIRST + threshold of ≥ 15% predicted risk had a sensitivity of 81.8% (95%CI 70.5–91.0%) and specificity of 65.6% (95%CI 57.8–72.7%). In the testing dataset, FIRST + had an area under receiver operating characteristic curve of 0.87 (95%CI 0.81–0.94). These scores can potentially guide triage and prioritization of febrile infants.

Role of Ultrasound in Diagnosing Chronic Kidney Disease (CKD)

Background: CKD may be defined as either kidney damage or glomerular filtration rate &lt;60 ml/mm/1.73 m2 for more than three months. Kidney damage is defined as pathological abnormalities or marks of damage including abnormalities in blood, urine, and imaging test. Objective: To analyze the changes in cortical thickness of the kidney and, the size of the kidney with progression to CKD. Methods: This study, conducted between May 2021 to April 2022, employed a retrospective cross-sectional design within the ultrasound department of a Tertiary Hospital. The study involved 200 CKD patients with a glomerular filtration rate (GFR) of &lt; 60 ml/min. Serum creatinine estimation was performed alongside blood tests on the same day as ultrasonography, which assessed echogenicity, parenchymal thickness, cortical thickness, and longitudinal length. All gathered data were recorded in the pro forma. Results: The patient cohort had an average age of 54.62±13.3 years. Mean serum creatinine showed significant variance across echogenicity grades (p=0.0005). Comparable trends were observed for mean parenchymal thickness (p=0.0005), mean longitudinal length (p=0.0005), and mean corticomedullary distinction (p=0.0005). A statistically significant highly positive correlation emerged between serum creatinine and cortical echogenicity grading (r=0.915, p = 0.0005). Conclusion: Renal cortical echogenicity, particularly its grading, exhibited the most substantial correlation with serum creatinine among various sonographic parameters like longitudinal length, parenchymal thickness, and cortical thickness in CKD patients. As renal cortical echogenicity's irreversible nature contrasts with serum creatinine levels, it stands as a viable parameter for renal function assessment.

Post-marketing safety surveillance of dalfampridine for multiple sclerosis using FDA adverse event reporting system.

Objective: To investigate and analyze the post-marketing adverse event (AE) data of multiple sclerosis (MS) therapeutic drug dalfampridine using the US Food and Drug Administration Adverse Event Reporting System (FAERS) for its clinical safety application. Methods: Use OpenVigil2.1 platform to obtain AE data of dalfampridine from FAERS from February 2010 to September 2022. Match "adverse drug reaction" with preferred term (PT) and system organ class (SOC) according to the Medical Dictionary for Regulatory Activities (MedDRA), then merge the same PT and delete non-AE PT. Positive signals were identified by the reporting odds ratio (ROR), proportional reporting ratio (PRR), and Bayesian confidence propagation neural network (BCPNN) methods. When AE signals met the criteria of those three methods, they were identified as positive signals. Results: A total of 44,092 dalfampridine-related AE reports were obtained, and 335 AE signals were identified, including 11,889 AE reports. AEs were more common in females and in the 45-65 age group, which is consistent with the epidemiological characteristics of MS. The 335 AE signals involved 21 SOCs, including investigations, infections and infestations, eye disorders, etc. Among the top 20 PTs in signal strength, 10 were associated with abnormal lymphocyte percentage and count, and 5 were associated with abnormal urine tests, some of which were not described in the instruction, such as spinal cord injury cauda equina, haemoglobin urine present, urinary sediment abnormal and so on. The most frequently reported AE signals were urinary tract infection, dizziness, condition aggravated. In addition, 23 AE signals with death outcomes were identified, with an incidence of less than 0.1%. Conclusion: Data mining of FAERS was conducted to analyze the AEs of dalfampridine, and new AE signals were found. This study provides a reference for the safe use of dalfampridine in the treatment of MS.

On the earliest descriptions of the uremic syndrome in medical literature.

Uremic syndrome refers to the clinical manifestations of renal failure (acute or chronic) that results from the accumulation of several endogenous toxins normally excreted by the kidneys and can be fatal unless the primary cause is addressed and the toxins removed by dialysis. A historical description of the syndrome is traditionally believed to start in the 18th - 19th century through seminal works in the field of experimental medicine. This account, however, ignores the possibility of clinical apperception of this syndrome in ancient medical literatures. The Sushruta Samhita (SS), a Sanskrit text whose authorship is attributed to the legendary ancient Indian surgeon Sushruta (6th century BC), is well known for its pioneering descriptions of several surgical procedures, even though its contribution to the fields of internal medicine and especially nephrology is detailed. Prameha, a term that first appears in the SS, and subsequently in later historical Ayurvedic (traditional Indian medicine) texts, denotes a multi-systemic disease syndrome impacting the neurological, cardiac, dermatological, and gastrointestinal systems that is recognized through its intimate association with urinary abnormalities such as hematuria, frothy urine, or glycosuria. This construct is highly consistent with uremic syndrome originating from multiple renal disease processes such as acute glomerulonephritis, nephrotic syndrome, diabetes mellitus, etc. Furthermore, medical treatment of prameha, as detailed in the original text, reflects several recently validated approaches to managing chronic kidney disease, supporting the hypothesis that this historical entity may be one of the earliest descriptions of uremic syndrome in medical history.

Chronic Myelomonocytic Leukemia Patients With Lysozyme Nephropathy and Renal Infiltration Display Markers of Severe Disease

Chronic myelomonocytic leukemia (CMML) is a hematologic disorder that is an overlap syndrome between myelodysplastic syndromes and myeloproliferative neoplasms, and can be associated with autoimmune and inflammatory diseases. This study aimed to describe kidney involvement in patients with CMML, their treatments, and outcomes. We conducted a French and American multicenter retrospective study in 15 centers, identifying patients with CMML with acute kidney injury (AKI), chronic kidney disease (CKD), and urine abnormalities. Sixteen patients (males, n= 14; median age 76.5 years [71.9-83]) developed a kidney disease 6 months [1.6-25.6] after the diagnosis of CMML. At the time of kidney disease diagnosis, median urinary protein-to-creatinine ratio was 2 g/g [1.25-3.4], and median serum creatinine was 2.26 mg/dl [1.46-2.68]. Fourteen patients (87.5%) underwent a kidney biopsy, and the 2 main pathological findings were lysozyme nephropathy (56%) and renal infiltration by the CMML (37.5%). Ten patients received a new treatment following the CMML-associated kidney injury. Among patients with monitored kidney function, and after a median follow-up of 15 months [9.9-34.9], 4 patients had CKD stage 3, 4 had CKD stage 4, 1 had an end-stage kidney disease. In our patient series, 2 patients evolved to an acute myeloid leukemia (AML), and 5 died. Compared with 116 CMML controls, patients who had a kidney involvement had a higher monocyte count (P< 0.001), had more CMML-1 (P= 0.005), were more susceptible to develop an AML (P= 0.02), and were more eligible to receive a specific hematologic treatment, with hydroxyurea, or hypomethylating agents (P< 0.001), but no survival difference was seen between the 2 groups (P= 0.6978). In this cohort of patients with CMML with a kidney injury, the 2 most frequent renal complications were lysozyme-induced nephropathy and renal infiltration by the CMML. Kidney involvement should be closely monitored in patients with CMML.

A review on Punarnavadi Kwath : An Ayurvedic polyherbal formulation for Chronic Kidney Disease (CKD)

Chronic kidney disease (CKD) is defined by persistent urine abnormalities, structural abnormalities, or impaired excretory renal function suggestive of a loss of functional nephrons. Most patients with CKD are at risk of accelerated cardiovascular disease and death. Punarnavadi Kwath is a formulation, which contains nine medicinal plants viz. Boerhavia diffusa, Barberis aristate Dc. Curcuma longa, Zingiber officinale Roxb, Terminalia chebula Retz. Tinospora cordifolia (Willd.), Plumbago zeylanica Muell Arg, Clerodendron serratum, Cedrus deodara (Roxb) Loud. These herbs have the potential to treat symptoms of CKD like inflammation and pain other than that, the goal of treatment is to improve kidney function, reduce symptoms and prevent complications. This review paper emphasized on a comprehensive information for each herb of Punarnavadi Kwath because pharmacology, mechanism of actions based on various preclinical studies, safety precautions along with the current research potential of the herb. At the same time, the probable pharmacodynamic action of drugs is drawn to know the imperative for optimal and safe utilization of the herb, are discussed in this review paper.

Congenital ureteral valve as a diagnostically challenging congenital ureteral defect

The authors present two cases of ureteral valves. This rare urinary tract defect, causing abnormal urine flow from the upper urinary tract, is usually diagnosed intraoperatively. A 15-year-old girl with renal colic was admitted to hospital. Abdominal ultrasonography showed pelvicalyceal dilation in the right kidney and the X-ray showed a shadow in the orifice of the left ureter. She underwent bilateral ureterorenoscopy. A left ureteral valve was visualised during the examination. A 13-year-old boy was admitted to the Department of Surgery due to pelvicalyceal and left ureteral dilatation. Based on imaging and clinical findings, both patients underwent surgical treatment. Valves were found in the distal part of the left ureters. They were resected and the ureters were transplanted. Histopathological examination showed the presence of smooth muscle in the folds of the valve, confirming the final diagnosis.

The relationships between sediment findings and culture results and the presence of proteinuria in canine urine samples.

To assess relationships between urine sediment and microbial culture findings and the presence of proteinuria in canine urine samples, and to assess the change in the percentage of proteinuric samples and urine protein-to-creatinine ratio when urine abnormalities resolve. Canine urine samples collected via cystocentesis and submitted for culture and contemporaneous urinalysis (including urine protein-to-creatinine ratio) were retrospectively identified. Dogs receiving corticosteroids were excluded. Associations between haematuria (red blood cells>5/high-power field), pyuria (white blood cells>5/high-power field), presence of microorganisms on microscopy, active sediment, and positive culture and proteinuria (urine protein-to-creatinine ratio>0.5) were investigated. Patient characteristics were considered possible confounders. In dogs with repeat urinalysis, the associations between active sediment and positive culture resolution on proteinuria and urine protein-to-creatinine ratio were assessed. One hundred and ninety-two of 491 samples were proteinuric (39.1%). Age was positively associated with proteinuria. In the multivariable analysis corrected for age, active sediment was the only variable significantly associated with proteinuria (adjusted odds ratio: 2.12; 95% confidence interval: 1.44 to 3.11); however, only 49.8% of samples with active sediment were proteinuric. Neither resolution of active sediment nor positive culture were associated with reduced proportions of proteinuric samples (from 57.9% to 42.1% and from 40.0% to 25.0%, respectively) or significant reductions in urine protein-to-creatinine ratio (median change: -0.16 and -0.14, respectively). Attributing proteinuria to urinalysis abnormalities or a positive urine culture in canine cystocentesis samples is not supported by our findings, and could result in alternative causes of proteinuria (e.g. renal proteinuria) being overlooked.

Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder

Early B-cell factor 3 (EBF3) is a transcription factor involved in neuronal differentiation and maturation. Pathogenic variants are associated with hypotonia, ataxia, and delayed development syndrome (HADDS) (MIM#617330). Urologic manifestations are common and may have implications regarding long term renal function. To review all known patients with pathogenic variants of the EBF3 gene resulting in HADDS with urologic manifestations. We hypothesize a high rate of bladder dysfunction secondary to the EBF3 variant's impact on relaxation of the urinary sphincter leading to detrusor sphincter dyssynergia (DSD). The PubMed database was queried for publications of the EBF3 mutation between January 2017 and January 2023. Search terms were "EBF3 mutation OR HADDS AND urology OR phenotype". Retrospective analysis of HADDS patients cared for in our institution was performed. Demographic and clinical information was collected. We identified 52 patients (33F:19M) through literature (28F:18M) and retrospective review (5F:1M). There was a high prevalence of genitourinary physical exam abnormalities, history of urinary tract infection, vesicoureteral reflux (VUR), and diagnosis of neurogenic bladder. Within the literature review cohort, 67% had a urologic diagnosis. Females were disproportionately affected with urologic manifestations. In our cohort, four of six children were diagnosed with VUR and severe voiding dysfunction consistent with neurogenic bladder (67%). These children were managed with a vesicostomy. Five children had bowel dysfunction requiring therapy. Urodynamics suggested a high prevalence of external sphincter dyssynergia. Less severe forms of DSD were felt to be implicated in the abnormal voiding parameters in children who presented later in life based on non-invasive flow studies. There is significant variability in the phenotypic presentation of patients with HADDS. While EBF3 plays a clear role in neurodevelopment, it also impacts muscle development and may impact muscle relaxation. The location of the genetic variant may impact the degree of DSD, with more severe forms leading to earlier presentations. Initial work-up should include a renal ultrasound (RUS) and post void residual (PVR). Consideration can be given to obtaining a VCUG, DMSA scan or urodynamic studies. Yearly screening should be pursued with an RUS and PVR in those with an initial unremarkable work-up given the variable timing and severity of presentation. Urologic manifestations of HADDS include high rates of bladder dysfunction secondary to DSD, vesicoureteral reflux, urinary tract infection, and cryptorchidism. These patients are at risk of renal deterioration if urinary abnormalities are not properly diagnosed and managed.

The relationship between urine steroid metabolome and the course of adrenocortical cancer

Background: Adrenocortical cancer (ACC) is a rare aggressive and rapidly metastatic disease. Early diagnosis of the disease and its metastatic stage are important for the choice of treatment strategy. Evaluation of urine steroid profiles (USP) by gas chromatography-mass spectrometry (GC-MS) is a highly sensitive and specific biomarker instrument that allows for differentiation between benign and malignant tumor and obvious prospects for the diagnosis in patients with adrenal incidentalomas. In our previous study we have found no difference in urine excretion of tetrahydro-11-deoxycortisole (THS), 5-ene-pregnenes and 3,16,20-pregnenetriol/3,16,20-pregnenetriol ratio (3,16,20-dP3/3,16,20-dP3) in patients with metastatic ACC in early postoperative period, compared to pre-operative parameters. We did not account for the disease stage and primary tumor size in that study in ACC patients.&#x0D; Aim: To identify specific characteristics of urine steroid metabolome by GC-MS in ACC IIV stages patients before surgery in order to detect early signs of metastases and the relationship between adrenal steroidogenesis abnormalities and disease stages.&#x0D; Materials and methods: We performed a retrospective analysis of the data from the study of USP in 59 ACC stage I-IV patients with L. M. Weiss score 3, according to pathological examination of the surgical samples. The Cushing syndrome was diagnosed by immunochemistry assay in 28 (47.6%) of ACC patients. Tumor staging was done according to ENSAT based on the results of imaging and postoperative histological reports. ENSAT I was diagnosed in 8 patients, ENSAT II in 26, ENSAT III in 14, ENSAT IV in 11 ACC patients. The control group included 28 healthy donors. USP was assessed by GC-MS before surgery with a gas chromatography-mass-spectrometer Shimadzu GCMS-ТQ8050.&#x0D; Results: The first variant of urinary steroid metabolome abnormalities with increased excretion of dehydroepiandrosterone (DHEA) and THS was found in 10 (90.9%) of ENSAT IV ACC patients and in 20 (50%) of ENSAT II + III patients. The fourth USP variant was characterized by no difference in androgen and THS urinary excretion from that in healthy individuals and was found in ACC ENSAT I patients. Only in ACC ENSAT I patients, there was an increase of pregnanediol (P2) urinary excretion and of the P2/pregnanetriol (P3) ratio, compared to those in healthy donors. ROC-analysis demonstrated that ТНS 867 mcg/24 hours, 3,16,20-dP3 300 mcg/24 hours and 3,16,20-dP3/3,16,20-dP3 1.6 cut-offs had a sensitivity and specificity of 100% for preoperative identification of ENSAT IV ACC patients before surgery and for early diagnosis of ACC metastases. There were positive correlations between 16-oxo-androstenediol, THS, and progestogens, as well as a negative correlation between 3,16,20-dP3/3,16,20-dP3 ratio and the disease stage.&#x0D; Conclusion: Urinary excretion of THS, DHEA and its metabolites, P2, 5-ene-pregnenes, and 3,16,20-dP3/3,16,20-dP3 ratio determined by GC-MS are important biochemical markers of ACC stages and can be used as ACC metastases prognostic markers.

Exploring hospital practice types and their impact on glomerular pathologic patterns: Insights from the largest kidney biopsy cohort in Thailand.

This study aims to investigate the influence of different kidney biopsy practices on the prevalence of glomerular pathologic patterns in the largest kidney biopsy registry in Thailand. We conducted a retrospective review of kidney biopsy records from the period between 2000 and 2014. The records were obtained from 2 major institutions: King Chulalongkorn Memorial Hospital, a large university-based hospital, and the Kidney Center Bangkok Hospital, which provides pathology services to hospitals throughout Thailand. The study included native kidney biopsies from all provinces in Thailand, excluding paediatric patients, kidney transplant recipients, and cases of inadequate and repeated biopsies. Patient demographics, indications for biopsy, and final glomerular diagnoses were compared across different hospital practice settings: university (UVH), private (PVH) and public (PBH). A total of 5893 eligible native kidney biopsies were identified from a pool of 7005 biopsies conducted over a 15-year period in 25 provinces throughout Thailand. The 3 most common indications for biopsy were suspected kidney involvement in systemic lupus erythematosus (SLE) (29%), nephrotic syndrome (NS) (29%), and acute glomerulonephritis (AGN)/rapidly progressive glomerulonephritis (RPGN) (13%). The leading indication for biopsy differed across practice types, with suspected kidney involvement in SLE being the primary indication in UVH, while NS took precedence in both PBH and PVH practices. Notably, UVH performed fewer kidney biopsies for asymptomatic urinary abnormalities and diabetes-related indications compared with PVH and PBH. The leading glomerular diagnoses correlated with the biopsy indications, with lupus nephritis (LN) being the most common diagnosis in UVH and PBH practices, whiles immunoglobulin A nephropathy was the predominant diagnosis in PVH practice. Hospital practice types significantly impact the prevalence of glomerular pathologic diagnosis patterns in kidney biopsy data, highlighting the importance of considering this influence in epidemiological comparisons.

Ochoa Syndrome: An Overlooked Diagnosis – A Case Report

The Urofacial Syndrome or Ochoa is a very rare clinical condition, being unknown by a large part of the medical community; it is characterized by an inverted facial expression, resulting from abnormal contraction of facial and ocular muscles, especially when smiling, in addition to the presence of urinary abnormalities. Patients with this syndrome are at a higher risk of developing urinary incontinence, changes in the bladder, vesicoureteral reflux, hydroureteronephrosis, predisposition to severe urinary infections, in addition to chronic kidney disease. This article presents a case of a 22-year-old female, resident of Piauí/Brazil, who presented at the age of 5, the first symptoms of the disease mainly related to the urinary tract (such as: urinary frequency), in addition to the sign of inverted face, in which the patient presents the inverted smile characteristic of the disease when commanded to smile, associated with nocturnal logophthalmos. Patient evolved at 12 years of age, with end-stage chronic kidney disease and need for renal replacement therapy. This is one of the rare cases of the disease, in which the patient presents the complete characteristics of the inverted smile pathology and complications in the urinary tract. The inverted facial expression is an easily recognized sign, and it is a very characteristic finding of the disease, not finding explanations of morphological alterations or lesions. Therefore, it is evident that early diagnosis with institution of appropriate treatment, avoid possible damage to the urinary tract from childhood, allowing better management and quality of life in these patients.