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https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#1
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#2
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#3
Agnieszka Szmigielska, Grażyna Krzemień, Anna Zacharzewska, Teresa Dudek-Warchoł, Stanisław Warchoł
Renal agenesis occurs in pediatric population with the incidence 1:500- 2000 children. It is more often diagnosed in boys and on the left side of the body. Renal agenesis may be isolated or it may be a part of complex malformation syndrome. Megacalycosis is a very rare anomaly of urinary tract associated with abnormal structure of the kidney pyramids. AIM: The aim of the study was to present for the first time in the medical literature the case of a girl with unilateral renal agenesis and megacalycosis...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29775448/pyonephrosis-as-the-first-symptom-of-congenital-hydronephrosis-in-a-6-year-old-girl
#4
Teresa Dudek-Warchoł, Stanisław Warchoł, Przemysław Bombiński, Krzysztof Toth, Agnieszka Szmigielska, Garżyna Krzemień
Pyonephrosis in the course of hydronephrosis usually provides to total or near-total loss of renal function. In adults pyonephrosis usually results from urolithiasis. In children usually congenital urinary tract anomalies are present as contributing factors. CASE REPORT: 6-year old girl was admitted to the hospital because of 2-day history of high fever, abdominal pain, progressive deterioration of general condition and ultrasonographically (US) detected left hydronephrosis. US on admission showed grossly dilated left renal collecting system together with extensive echogenic debris and laboratory tests highly elevated inflammatory markers...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29767556/hydronephrosis-is-associated-with-elevated-plasmin-in-urine-in-pediatric-patients-and-rats-and-changes-in-ncc-and-%C3%AE-enac-abundance-in-rat-kidney
#5
Rikke Zachar, Ammar Al-Mashhadi, Henrik Dimke, Per Svenningsen, Boye L Jensen, Mattias Carlström
Obstruction of urine flow at the level of the pelvo-ureteric junction (UPJO) and subsequent development of hydronephrosis is one of the most common congenital renal malformations. UPJO is associated with development of salt-sensitive hypertension, which is set by the obstructed kidney, and with a stimulated renin-angiotensin-aldosterone system (RAAS) in rodent models. This study aimed at investigating the hypothesis that i) in pediatric patients with UPJO the RAAS is activated prior to surgical relief of the obstruction; ii) in rats with UPJO the RAAS activation is reflected by increased abundance of renal aldosterone-stimulated Na+ transporters; and iii) the injured UPJO kidney allows aberrant filtration of plasminogen leading to proteolytic activation of the epithelial sodium channel gamma subunit (γ-ENaC)...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29766469/proteinuric-glomerulopathy-in-an-adolescent-with-a-distal-partial-trisomy-chromosome-1
#6
Takaya Sasaki, Masahiro Okabe, Takeshi Tosaki, Yu Honda, Masahiro Ishikawa, Nobuo Tsuboi, Takashi Yokoo
We report a case of distal partial trisomy 1 from q32.1 to 41 that have exhibited proteinuric glomerulopathy. The patient was a 17-year-old adolescent with clinical features of low birth weight, mild mental retardation and mild deafness, from the birth. He exhibited non-nephrotic range proteinuria with the mild obesity since the age of sixteen. Image studies did not reveal morphological abnormalities of the kidneys. Renal biopsy findings showed no definitive evidence of primary glomerular diseases, and were characterized by a very low glomerular density, glomerulomegaly and focal effacement of podocyte foot processes...
May 16, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29765932/fluid-overload-and-renal-angina-index-at-admission-are-associated-with-worse-outcomes-in-critically-ill-children
#7
Sidharth K Sethi, Veena Raghunathan, Shilpi Shah, Maninder Dhaliwal, Pranaw Jha, Maneesh Kumar, Sravanthi Paluri, Shyam Bansal, Maroun J Mhanna, Rupesh Raina
Objectives: We investigated the association of fluid overload and oxygenation in critically sick children, and their correlation with various outcomes (duration of ventilation, ICU stay, and mortality). We also assessed whether renal angina index (RAI) at admission can predict mortality or acute kidney injury (AKI) on day 3 after admission. Design and setting: Prospective study, pediatric intensive care in a tertiary hospital. Duration: June 2013-June 2014. Patients: Patients were included if they needed invasive mechanical ventilation for >24 h and had an indwelling arterial catheter...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29764441/case-report-identification-of-an-hnf1b-p-arg527gln-mutation-in-a-maltese-patient-with-atypical-early-onset-diabetes-and-diabetic-nephropathy
#8
Nikolai Paul Pace, Johann Craus, Alex Felice, Josanne Vassallo
BACKGROUND: The diagnosis of atypical non-autoimmune forms of diabetes mellitus, such as maturity onset diabetes of the young (MODY) presents several challenges, in view of the extensive clinical and genetic heterogeneity of the disease. In this report we describe a case of atypical non autoimmune diabetes associated with a damaging HNF1β mutation. This is distinguished by a number of uncharacteristic clinical features, including early-onset obesity, the absence of renal cysts and diabetic nephropathy...
May 15, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29750744/experience-and-prognosis-of-systemic-neonatal-thrombosis-at-a-level-iii-nicu
#9
Sevim Unal, Deniz Gönülal, Betül Siyah Bilgin, Vildan Koşan Çulha, Neşe Yarali
OBJECTIVE: The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. METHODS: We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. RESULTS: Among 4376 hospitalized, 30 neonates (0.69%) were diagnosed systemic thrombosis. Their mean birth weight was 2422±1152 g (680 to 4750 g), gestational age was 35±5.4 weeks (25 to 41 wk). There were 25 neonates (83...
May 10, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29750039/impact-of-an-inline-extracorporeal-membrane-oxygenation-hemofilter-system-in-neonatal-acute-kidney-injury
#10
Mohammed Azar, Abdulrahman Alamir, Abdullah Thabet Al Qahtani, Al Mokali Khamisa, Khalid Alfakeeh
Extracorporeal membrane oxygenation (ECMO) is considered a recognized lifesaving support for patients with cardiorespiratory failure. Acute kidney injury (AKI) and fluid overload are significant morbidity factors resulting in serious complications. The inline hemofilter system (IHS) and the continuous renal replacement therapy (CRRT) machine are different methods of renal replacement therapy for patients with ECMO. IHS is the alternate, safe dialysis modality of choice because it is user-friendly, inexpensive, and efficiently removes fluid overload and renal diffusive clearance...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29744117/extreme-premature-with-persistent-left-superior-vena-cava
#11
Carlos Manuel Aboitiz-Rivera, Ruben Blachman-Braun, Mariana Yazmin Parra-Pérez
Persistent left superior vena cava (PLSVC) is a congenital anomaly, that results when there is an absence of the normal regression of the left common precardinal vein during embryogenesis. Usually, this anomaly remains asymptomatic, however, when the PLSVC drains into the left atrium this could lead to a right-to-left shunt. Additionally, this can result in inadvertent delivery of air or thrombus into the systemic circulation with potential neurologic, cardiac and renal complications. In this article, we present a case of an extreme premature Mexican newborn in which the diagnosis was made after placement of a percutaneous central venues catheter...
October 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29743906/glomerular-filtration-decrease-after-diagnostic-cardiac-catheterisation-in-children-with-congenital-cardiac-malformation-the-role-of-serum-creatinine-cystatin-c-neutrophil-gelatinase-and-urine-output-monitoring
#12
Marcin Tkaczyk, Daria Tomczyk, Anna Jander, Sebastian Góreczny, Tomasz Moszura, Paweł Dryżek, Wojciech Krajewski, Ewa Głowacka, Agnieszka Wosiak
Introduction: Diagnosis of contrast induced-nephropathy (CIN) by a classic renal biomarker such as creatinine concentration can be delayed because of various factors that can influence this marker. Changes in new biomarkers such as neutrophil-gelatinase associated lipocalin (NGAL) and cystatin C are postulated to be more sensitive for recognizing patients prone to CIN-acute kidney injury (AKI). Aim: To investigate the role of NGAL and cystatin C as early biomarkers in the diagnosis of kidney injury after cardiac catheterisation...
2018: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/29742490/prenatal-treatment-of-congenital-adrenal-hyperplasia-long-term-effects-of-excess-glucocorticoid-exposure
#13
Svetlana Lajic, Leif Karlsson, Anna Nordenström
Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration of glucocorticoids may cause unwanted adverse effects which have raised concerns about the long-term safety of the treatment. The long-term outcome of prenatal DEX treatment on cognition has been investigated, but the results are still conflicting...
May 9, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29739453/spontaneous-renal-hemorrhage-secondary-to-choriocarcinoma-in-a-man-with-congenital-hypospadias-and-cryptorchidism-a-case-report-and-literature-review
#14
Yi Li, Gang Chen, Han Chen, Shuang Wen, Chao-Yu Xiong, Zi-Yi Yang, Yun-Xiao Zhu, Nathan Jeffreys
BACKGROUND: Choriocarcinoma is a rare malignant germ-cell tumour, most commonly found in adult women. It infrequently presents as spontaneous renal haemorrhage (SRH). Genital malformation and SRH secondary to choriocarcinoma has previously been only reported in females. We present what we believe to be the first case of a male patient with genital malformation (hypospadias and cryptorchidism) and SRH at presentation of choriocarcinoma. CASE PRESENTATION: A 25-year-old man presented to the department with intense pain in the right flank region and lower back...
May 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29738274/renal-injury-in-seipin-deficient-lipodystrophic-mice-and-its-reversal-by-adipose-tissue-transplantation-or-leptin-administration-alone-adipose-tissue-kidney-crosstalk
#15
Xue-Jing Liu, Xiao-Yue Wu, Huan Wang, Su-Xia Wang, Wei Kong, Ling Zhang, George Liu, Wei Huang
Seipin deficiency is responsible for type 2 congenital generalized lipodystrophy with severe loss of adipose tissue (AT) and could lead to renal failure in humans. However, the effect of Seipin on renal function is poorly understood. Here we report that Seipin knockout (SKO) mice exhibited impaired renal function, enlarged glomerular and mesangial surface areas, renal depositions of lipid, and advanced glycation end products. Elevated glycosuria and increased electrolyte excretion were also detected. Relative renal gene expression in fatty acid oxidation and reabsorption pathways were impaired in SKO mice...
May 8, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29737941/are-congenital-urinary-tract-abnormalities-linked-to-maternal-methylenetetrahydrofolate-reductase-polymorphisms-in-fetuses-of-intentionally-terminated-pregnancies-with-oligo-or-anhydramnios
#16
M Sinan Beksac, Alp Tuna Beksac, Melek Buyukeren, Atakan Tanacan, Hatice Bektas, Safak Gucer
OBJECTIVE: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. MATERIALS AND METHODS: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases...
May 8, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29737642/increased-urine-albumin-to-creatinine-ratio-a-harbinger-of-renal-dysfunction-after-repair-of-congenital-heart-disease
#17
EDITORIAL
Soo Jung Kang
No abstract text is available yet for this article.
May 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29736105/duplex-system-with-ectopic-ureter-opens-into-the-posterior-urethra-case-report
#18
Snjezana Milicevic, Radojka Bijelic, Vladimir Krivokuca, Branislava Jakovljevic
Introduction: Duplicated ureter or Duplex Collecting System is a congenital condition in which the ureteric bud, the embryological origin of the ureter, arises twice, resulting in two ureters draining a single kidney. This congenital anomaly is rare, and even rarer when the duplex system with ectopic ureter is present. This type of congenital anomaly is even more rarely diagnosed and surgically treated in adulthood. Case report: This case report presents a case of a 32-year-old male, who had a duplex collecting system with two ureters on the left side...
April 2018: Medical Archives
https://www.readbyqxmd.com/read/29734759/trends-in-the-prevalences-of-selected-birth-defects-in-korea-2008%C3%A2-2014
#19
Jung-Keun Ko, Dirga Kumar Lamichhane, Hwan-Cheol Kim, Jong-Han Leem
Little information is available on the prevalences of birth defects in Korea. The aims of this study were to estimate recent prevalences of selected birth defects and to analyze the prevalence trends of these defects during the period from 2008 to 2014. Prevalences were calculated for 69 major birth defects using health insurance claim data obtained from the Korea National Health Insurance Service (NHIS). Prevalence rate ratios were calculated using Poisson regression to analyze trends over the 7-year study period...
May 5, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29733801/evaluation-of-renal-tumors-in-children
#20
Gülçin Bozlu, Elvan Çağlar Çıtak
OBJECTIVE: Renal tumors are not uncommon in children. In this study, we aimed to evaluate the clinical and pathological features of renal tumors in children. MATERIAL AND METHODS: Between January 2008 and December 2017, the records of children with renal tumors in our institution were retrospectively analyzed. Data collected were composed of demographic and clinical characteristics including gender, age at time of diagnosis, symptoms, laterality of the tumor and pathological evaluation...
May 2018: Turkish Journal of Urology
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