keyword
https://read.qxmd.com/read/38623282/reclassification-of-genetic-testing-results-a-case-report-demonstrating-the-need-for-structured-re-evaluation-of-genetic-findings
#1
Clara Schott, Samantha Colaiacovo, Cadence Baker, Matthew A Weir, Dervla M Connaughton
RATIONALE: Alport Syndrome (AS) is a progressive genetic condition characterized by chronic kidney disease (CKD), hearing loss, and eye abnormalities. It is caused by mutations in the genes COL4A3, COL4A4 , and COL4A5 . Heterozygous mutations in COL4A4 and COL4A3 cause autosomal dominant Alport Syndrome (ADAS), and a spectrum of phenotypes ranging from asymptomatic hematuria to CKD, with variable extra-renal features. In the past, heterozygous mutations in these genes were thought to be benign, however recent studies show that about 30% of patients can progress to CKD, and 15% can progress to end stage kidney disease (ESKD)...
2024: Canadian Journal of Kidney Health and Disease
https://read.qxmd.com/read/38514215/estimates-of-the-lead-time-in-screening-for-bladder-cancer
#2
REVIEW
Jochanan Benbassat
Some studies have suggested a survival benefit from early treatment of bladder cancer (BC). This benefit may be due in part to a "lead-time" bias (LT), i.e., the time interval between the detection of BC in asymptomatic individuals and the development of symptoms ("backward prolongation of survival"). To estimate the LT of BC, it was assumed that LT corresponds to the ratio between the prevalence of pre-symptomatic BC and the incidence of symptomatic BC. Data on the prevalence of pre-symptomatic BC were derived from published screening studies...
April 2024: Urologic Oncology
https://read.qxmd.com/read/38384656/an-adolescent-boy-with-hypoxia-microscopic-hematuria-and-hypertension
#3
Melissa S Zhou, Clement D Lee, Benjamin J Lerman, Alanna Strong, Christopher LaRosa
A 13-year-old boy presented with hypoxia, microscopic hematuria, and elevated blood pressures. Persistent microscopic hematuria and hypertension led to investigation of glomerular and non-glomerular causes of hematuria. After reviewing his clinical course, family history, and laboratory testing, an additional test was sent, revealing the diagnosis.
January 2024: Curēus
https://read.qxmd.com/read/38342955/prevalence-and-associated-factors-for-asymptomatic-microscopic-hematuria-in-adults-in-the-persian-guilan-cohort-study-pgcs
#4
JOURNAL ARTICLE
Farahnaz Joukar, Soheil Hassanipour, Amirhomayoun Atefi, Saman Maroufizadeh, Ardalan Akhavan, Mohammadreza Naghipour, Siavash Falahatkar, Mohammad-Javad Khosousi, Mehrnaz Asgharnezhad, Fariborz Mansour-Ghanaei
Although hematuria is not life-threatening, some could be the result of a more severe condition. Our objectives are to report on the prevalence and risk factors of asymptomatic microscopic hematuria (AMH) in the prospective epidemiological research studies of the Iranian adults (PERSIAN) Guilan cohort study (PGCS) population. This cross-sectional study was conducted from 2014 to 2017 and consisted of 10,520 individuals aged 35-70. Data collection was conducted using a questionnaire during a face-to-face interview...
February 11, 2024: Scientific Reports
https://read.qxmd.com/read/38092717/essentials-of-computed-tomography-imaging-of-hematuria
#5
JOURNAL ARTICLE
Vaidehi A Patel, Nidhi P Popat
Hematuria is defined usually as the presence of blood in the urine, either on voiding or in a catheterized specimen. Hematuria is broadly divided into microscopic and gross hematuria and may be symptomatic or asymptomatic. The causes of hematuria include a very wide spectrum of conditions. However, here, we have filtered the causes causing gross hematuria, including calculus, trauma, tumors, vascular, and miscellaneous causes. Plain X-rays of the kidney, ureter, and bladder; ultrasound; intravenous urography; computed tomography (CT); magnetic resonance imaging; retrograde ureterography and pyelography (RGP); cystoscopy; and ureteroscopy are techniques that are useful for diagnosis...
January 1, 2023: Saudi Journal of Kidney Diseases and Transplantation
https://read.qxmd.com/read/38053974/microscopic-hematuria-as-a-risk-factor-for-igan-progression-considering-this-biomarker-in-selecting-and-monitoring-patients
#6
REVIEW
Ladan Zand, Fernando C Fervenza, Rosanna Coppo
Hematuria-either macroscopic hematuria or asymptomatic microscopic hematuria-is a clinical feature typical but not specific for immunoglobulin A nephropathy (IgAN). The only biomarker supported by the Kidney Disease: Improving Global Outcomes group as a predictor of progression, identifying patients needing treatment, is proteinuria >1 g/day persistent despite maximized supportive care. However, proteinuria can occur in the setting of active glomerulonephritis or secondary to sclerotic renal lesions...
December 2023: Clinical Kidney Journal
https://read.qxmd.com/read/38022288/sporadic-renal-hemangioblastoma-a-case-report-of-a-rare-entity
#7
Fnu Raja, Vinesh Kumar, Azzam Hammad, Caroline Abramovich
Hemangioblastoma, also known as capillary hemangioblastoma, is a rare benign mesenchymal tumor commonly found in the central nervous system (CNS). It can also manifest in various organs, including the kidney. Renal hemangioblastoma (RH) is often associated with Von Hippel-Lindau (VHL) disease, but sporadic occurrences are observed infrequently. While RH is usually asymptomatic, it can also cause abdominal pain and hematuria. In this study, we present a case of an elderly patient without history of VHL but complaining of abdominal pain for three days...
October 2023: Curēus
https://read.qxmd.com/read/38015383/the-influence-of-the-initial-clinical-presentation-of-upper-tract-urothelial-carcinoma-on-histopathological-tumor-features
#8
JOURNAL ARTICLE
Dora Jakus, Ivana Šolić, Josip Anđelo Borovac, Marijan Šitum
PURPOSE: To investigate the influence of the initial clinical presentation (symptomatic vs. asymptomatic) on histopathological tumor features in patients with upper tract urothelial carcinoma (UTUC). METHODS: We conducted a single-center, cross-sectional, and retrospective study that enrolled 72 adults with primary UTUC who underwent radical nephroureterectomy at our institution over a period of 4 years (April 2019-April 2023). RESULTS: Symptomatic patients exhibited significantly higher frequencies of high-grade UTUC (73...
November 28, 2023: International Urology and Nephrology
https://read.qxmd.com/read/37736112/an-adult-case-of-severe-asymptomatic-bilateral-ureteropelvic-junction-obstruction
#9
Md Fahad Hossain, Syed Sheheryar Shah, Bahar Bastani
While ureteropelvic junction (UPJ) obstruction is a well-recognized cause of unilateral or bilateral upper urinary tract dilatation in infants and the pediatric population, its occurrence in adults is less recognized. We present the case of a 68-year-old man who was being evaluated for chronic orthostatic hypotension and was incidentally found to have asymptomatic microscopic hematuria on urinalysis. A CT scan of the abdomen/pelvis, without and with contrast, revealed severe bilateral hydronephrosis due to UPJ obstruction...
2023: Case Reports in Nephrology
https://read.qxmd.com/read/37733097/nutcracker-syndrome-in-pediatrics-initial-findings-and-long-term-follow-up-results
#10
JOURNAL ARTICLE
Iryna Akdemir, Ece Mekik Akar, Songül Yılmaz, Nilgün Çakar, Suat Fitöz, Zeynep Birsin Özçakar
BACKGROUND: Nutcracker syndrome (NCS) describes a set of symptoms and signs resulting from compression of the left renal vein (LRV). There is a lack of knowledge about its natural course, diagnosis, and management, especially in children. Herein, we present our single-center experience with a large number of patients who have long-term follow-up results. METHODS: All patients with NCS diagnosed between January 2011 and March 2021 were included and their data were obtained retrospectively...
September 21, 2023: Pediatric Nephrology
https://read.qxmd.com/read/37611394/a-rare-co-occurrence-of-renal-cell-carcinoma-bilateral-adrenal-metastasis-and-inferior-vena-cava-thrombus-a-case-report
#11
Muhamad Zakaria Brimo Alsaman, Merhej Almerhej, Alaa Qut, Zaher Al Nahhas, Louei Alia, Mohamad Ali Nahas
INTRODUCTION: The incidence of ipsilateral adrenal metastasis from RCC varies between 1.1 and 10 %, on the other hand, the presence of bilateral adrenal metastasis from solitary RCC is extremely rare, with less than 20 reported cases in the literature. CASE PRESENTATION: A 68-year-old man presented to the clinic with hematuria. Further investigations, contrast CT, showed mass at the right kidney and adrenal gland, a mass on the left adrenal gland and inferior cava thrombosis measuring 3*6 cm...
August 20, 2023: International Journal of Surgery Case Reports
https://read.qxmd.com/read/37445294/the-impact-of-the-initial-clinical-presentation-of-bladder-cancer-on-histopathological-and-morphological-tumor-characteristics
#12
JOURNAL ARTICLE
Dora Jakus, Ivana Šolić, Ivan Jurić, Josip A Borovac, Marijan Šitum
This study investigated the impact of the initial clinical presentation of bladder cancer on tumor characteristics. A cross-sectional, retrospective study was performed, and it involved 515 patients who underwent transurethral bladder cancer resection at the University Hospital Center Split between April 2019 and April 2023, excluding recurrent cases. The association between symptomatic versus asymptomatic presentation and bladder cancer characteristics was analyzed. A subgroup analysis compared tumor characteristics between patients with gross and microscopic hematuria...
June 25, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37131628/myofascial-frequency-syndrome-a-novel-syndrome-of-bothersome-lower-urinary-tract-symptoms-associated-with-myofascial-pelvic-floor-dysfunction
#13
A Lenore Ackerman, Nicholas J Jackson, Ashley T Caron, Melissa R Kaufman, Jonathan C Routh, Jerry L Lowder
BACKGROUND: Patients presenting with lower urinary tract symptoms (LUTS) are historically classified to several symptom clusters, primarily overactive bladder (OAB) and interstitial cystitis/bladder pain syndrome (IC/BPS). Accurate diagnosis, however, is challenging due to overlapping symptomatic features, and many patients do not readily fit into these categories. To enhance diagnostic accuracy, we previously described an algorithm differentiating OAB from IC/BPS. Herein, we sought to validate the utility of this algorithm for identifying and classifying a real-world population of individuals presenting with OAB and IC/BPS and characterize patient subgroups outside the traditional LUTS diagnostic paradigm...
April 17, 2023: medRxiv
https://read.qxmd.com/read/36694371/asymptomatic-microscopic-hematuria-in-inpatient-nonsurgical-adults
#14
JOURNAL ARTICLE
Paul Froom, Zvi Shimoni, Nathan Dusseldorp, Jochanan Benbassat
OBJECTIVES: This study sought to determine the proportion of nonsurgical inpatients with asymptomatic microscopic hematuria (AMH) who qualified for urologic investigation according to consensus guidelines. METHODS: The study population included all patients acutely admitted to the internal medicine departments of Israeli regional hospitals between 2014 and 2017. RESULTS: Of 29,086 consecutive admissions, 10,116 (34.8%) underwent dipstick urinalysis and 8,389 (28...
January 24, 2023: American Journal of Clinical Pathology
https://read.qxmd.com/read/36467425/gut-kidney-axis-in-iga-nephropathy-role-on-mesangial-cell-metabolism-and-inflammation
#15
REVIEW
Mateus Justi Luvizotto, Luísa Menezes-Silva, Viktoria Woronik, Renato C Monteiro, Niels Olsen Saraiva Câmara
IgA Nephropathy (IgAN) is the commonest primary glomerular disease around the world and represents a significant cause of end-stage renal disease. IgAN is characterized by mesangial deposition of IgA-immune complexes and mesangial expansion. The pathophysiological process includes an abnormally glycosylated IgA1, which is an antigenic target. Autoantibodies specifically recognize galactose-deficient IgA1 forming immune complexes that are amplified in size by the soluble IgA Fc receptor CD89 leading to deposition in the mesangium through interaction with non-classical IgA receptors...
2022: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/36133925/silent-lupus-nephritis-renal-histopathological-profile-and-early-detection-with-urinary-monocyte-chemotactic-protein-1
#16
JOURNAL ARTICLE
Wesam Gouda, Aldosoky Abd Elaziz Alsaid, Awad Saad Abbas, Tarek M Abdel-Aziz, Mohamed Z Shoaeir, Abd Allah S Abd Elazem, Mohammad Hamdy Sayed
OBJECTIVE: Lupus nephritis (LN) affects almost half of all individuals with systemic lupus erythematosus (SLE). Overt LN (OLN) symptoms might vary from asymptomatic microscopic hematuria to renal failure. However, when there are no clinical or laboratory indicators of renal involvement, some people with silent LN (SLN) may have pathological evidence of renal involvement identified by renal biopsy. Monocyte Chemotactic Protein 1 (MCP-1) is a chemotactic factor that promotes leukocyte migration to the kidney...
2022: Open Access Rheumatology: Research and Reviews
https://read.qxmd.com/read/36007691/asymptomatic-microscopic-hematuria-in-epidermolysis-bullosa-a-single-center-retrospective-case-series
#17
JOURNAL ARTICLE
Nicolas J Betancourt, Katie Sum, Emily S Gorell, Jean Y Tang, Albert S Chiou
No abstract text is available yet for this article.
August 22, 2022: Journal of the American Academy of Dermatology
https://read.qxmd.com/read/35985524/persistent-asymptomatic-isolated-microscopic-hematuria-in-adolescents-is-not-associated-with-an-increased-risk-for-early-onset-urinary-tract-cancer
#18
JOURNAL ARTICLE
Adi Leiba, Sivan Zino, Avital Angel Korman, Vladimir Rappaport, Asaf Vivante, Tamar Fishman, Gadi Shlomai, Tsahi T Lerman, Estela Derazne, Arnon Afek, Boris Fishman
OBJECTIVE: To elucidate the association between adolescent microscopic hematuria and early onset urothelial carcinoma and renal cell carcinoma. METHODS: Nationwide, population-based, retrospective cohort study using medical data of 970,366 adolescents aged 16 through 19 years (58.6% male) examined for fitness for military service between 1980 and 1997. Diagnoses of persistent isolated microscopic hematuria were given after thorough work up process excluding any other renal abnormalities...
November 2022: Urology
https://read.qxmd.com/read/35933583/case-report-of-bifid-ureter-with-a-blind-ending-surgical-laparoscopic-management
#19
JOURNAL ARTICLE
Marie-Camille Guérin, Roland Vaesen, Frédéric Leduc
BACKGROUND The blind-ending branch of a bifid ureter is a rare congenital anomaly which is usually asymptomatic but can occasionally give rise to various symptoms, such as chronic abdominal pain. Diagnosis is most often confirmed radiologically, and treatment is usually conservative. Surgical resection of the blind ending of a bifid ureter should be considered in cases of persistent symptoms. CASE REPORT A female patient of 49 years of age presented with intermittent right lumbar pain, repetitive urinary infections and microscopic hematuria...
August 7, 2022: American Journal of Case Reports
https://read.qxmd.com/read/35681556/molecular-oncology-of-bladder-cancer-from-inception-to-modern-perspective
#20
REVIEW
Soum D Lokeshwar, Maite Lopez, Semih Sarcan, Karina Aguilar, Daley S Morera, Devin M Shaheen, Bal L Lokeshwar, Vinata B Lokeshwar
Within the last forty years, seminal contributions have been made in the areas of bladder cancer (BC) biology, driver genes, molecular profiling, biomarkers, and therapeutic targets for improving personalized patient care. This overview includes seminal discoveries and advances in the molecular oncology of BC. Starting with the concept of divergent molecular pathways for the development of low- and high-grade bladder tumors, field cancerization versus clonality of bladder tumors, cancer driver genes/mutations, genetic polymorphisms, and bacillus Calmette-Guérin (BCG) as an early form of immunotherapy are some of the conceptual contributions towards improving patient care...
May 24, 2022: Cancers
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