keyword
https://read.qxmd.com/read/33512896/senior-l%C3%A3-ken-syndrome-a-case-series-and-review-of-the-reno-retinal-phenotype-and-advances-of-molecular-diagnosis
#261
Claudia Yahalom, Oded Volovelsky, Michal Macarov, Alaa Altalbishi, Yahya Alsweiti, Nina Schneider, Mor Hanany, Muhammad Imran Khan, Frans P M Cremers, Irene Anteby, Eyal Banin, Dror Sharon, Samer Khateb
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Løken syndrome (SLS). METHODS: A retrospective study of patients with SLS. Data collected included clinical findings electroretinography and ocular imaging. Genetic analysis was based on molecular inversion probes (MIPs), whole-exome (WES) and Sanger sequencing. RESULTS: All patients who underwent electrophysiology (8/10) had widespread photoreceptor degeneration...
January 27, 2021: Retina
https://read.qxmd.com/read/33512427/mammalian-vps45-orchestrates-trafficking-through-the-endosomal-system
#262
Laura Frey, Natalia Zietara, Marcin Lyszkiewicz, Benjamin Marquardt, Yoko Mizoguchi, Monika I Linder, Yanshan Liu, Florian Giesert, Wolfgang Wurst, Maik Dahlhoff, Marlon Schneider, Eckhard Wolf, Raz Somech, Christoph Klein
Vacuolar protein sorting 45 homolog (VPS45), a member of the Sec1/Munc18 (SM) family, has been implicated in the regulation of endosomal trafficking. VPS45 deficiency in human patients results in congenital neutropenia, bone marrow fibrosis, and extramedullary renal hematopoiesis. Detailed mechanisms of the VPS45 function are unknown. Here, we show an essential role of mammalian VPS45 in maintaining the intracellular organization of endolysosomal vesicles and promoting recycling of cell-surface receptors. Loss of VPS45 causes defective Rab5-to-Rab7 conversion resulting in trapping of cargos in early endosomes and impaired delivery to lysosomes...
December 21, 2020: Blood
https://read.qxmd.com/read/33507116/c2-semisegmented-hemivertebra-a-rare-anomaly-presenting-with-torticollis
#263
Andrew Aranha, Ajay Choudhary
BACKGROUND: Cervical hemivertebrae are extremely rare anomalies which usually present with restriction of neck movements and torticollis in childhood. Hemivertebrae within the craniovertebral junction have only been reported once previously in the literature. We report a case of semisegmented C2 vertebra presenting in a young adult with cervical pain and torticollis with no other associated anomalies. CASE DESCRIPTION: A 21-year-old lady presented with a history of neck pain for the past 10 days and longstanding torticollis with head tilt to the left...
January 28, 2021: British Journal of Neurosurgery
https://read.qxmd.com/read/33505230/phenotypic-characteristics-and-copy-number-variants-in-a-cohort-of-colombian-patients-with-vacterl-association
#264
Olga M Moreno, Ana I Sánchez, Angélica Herreño, Gustavo Giraldo, Fernando Suárez, Juan Carlos Prieto, Ana Shaia Clavijo, Mercedes Olaya, Yaris Vargas, Javier Benítez, Jordi Surallés, Adriana Rojas
VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA)...
December 2020: Molecular Syndromology
https://read.qxmd.com/read/33502502/strategies-to-lower-fibroblast-growth-factor-23-bioactivity
#265
Devin Verbueken, Orson W Moe
Fibroblast growth factor-23 (FGF23) is a circulating hormone derived from the bone whose release is controlled by many factors and exerts a multitude of systemic actions. There are congenital and acquired disorders of increased and decreased FGF23 levels. In chronic kidney disease, elevations of FGF23 levels can be 1000-fold above the upper physiological limit. It is still under debate whether this high FGF23 in chronic kidney disease is a biomarker or causally related to morbidity and mortality. Data from human association studies supports pathogenicity, while experimental data is less robust...
January 27, 2021: Nephrology, Dialysis, Transplantation
https://read.qxmd.com/read/33494995/prenatal-diagnosis-of-familial-22q11-2-deletion-syndrome-in-a-pregnancy-with-concomitant-cardiac-and-urinary-tract-abnormalities-in-the-fetus-and-the-mother
#266
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. CASE REPORT: A 28-year-old woman primigravid underwent amniocentesis at 23 weeks of gestation because of fetal ultrasound findings of aortic stenosis, interrupted aortic arch (IAA), left multicystic kidney, right hydronephrosis and ureterocele. Amniocentesis revealed a karyotype of 46,XX...
January 2021: Taiwanese Journal of Obstetrics & Gynecology
https://read.qxmd.com/read/33490854/a-novel-homozygous-missense-mutation-in-the-yars-gene-expanding-the-phenotype-of-yars-multisystem-disease
#267
Rawah K H M Zeiad, Edwin C Ferren, Denise D Young, Shanelle J De Lancy, Demitrios Dedousis, Lori-Anne Schillaci, Raymond W Redline, Shahrazad T Saab, Maricruz Crespo, Tricia R Bhatti, Amanda M Ackermann, Jirair K Bedoyan, Jamie R Wood
Aminoacyl-tRNA synthetases (ARSs) are crucial enzymes for protein translation. Mutations in genes encoding ARSs are associated with human disease. Tyrosyl-tRNA synthetase is encoded by YARS which is ubiquitously expressed and implicated in an autosomal dominant form of Charcot-Marie-Tooth and autosomal recessive YARS- related multisystem disease. We report on a former 34-week gestational age male who presented at 2 months of age with failure to thrive (FTT) and cholestatic hepatitis. He was subsequently diagnosed with hyperinsulinemic hypoglycemia with a negative congenital hyperinsulinism gene panel and F-DOPA positron-emission tomography (PET) scan that did not demonstrate a focal lesion...
February 1, 2021: Journal of the Endocrine Society
https://read.qxmd.com/read/33489410/a-unique-case-of-incomplete-bifid-ureter-and-associated-arterial-variations
#268
Shivika Ahuja, Hannah Sullivan, Mark Noller, Yun Tan, Daniel Daly
Introduction . Urogenital and vascular anomalies, including a left duplex kidney and a left aberrant renal artery that gave rise to the left ovarian artery, were observed in a 77-year-old female cadaver during a routine dissection. Description . A left aberrant renal artery, which gave rise to the left ovarian artery, was observed originating from the aorta 4 cm below the left renal artery. Two independent contributions to a bifid ureter were found originating from the hilum of the left kidney. These two contributions descended 12...
2021: Case Reports in Urology
https://read.qxmd.com/read/33478437/whole-exome-sequencing-identified-a-novel-heterozygous-mutation-of-sall1-and-a-new-homozygous-mutation-of-ptprq-in-a-chinese-family-with-townes-brocks-syndrome-and-hearing-loss
#269
Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng, Yifeng Yang
BACKGROUND: Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other abnormalities, such as hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. In addition, the protein tyrosine phosphatase receptor type Q (PTPRQ) gene has been identified in nonsyndromic hearing loss patients with autosomal recessive or autosomal dominant inherited patterns...
January 21, 2021: BMC Medical Genomics
https://read.qxmd.com/read/33478429/outcomes-of-infants-born-to-pregnant-women-with-syphilis-a-nationwide-study-in-korea
#270
Joohee Lim, So Jin Yoon, Jeong Eun Shin, Jung Ho Han, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park
BACKGROUND: Despite the expansion of antenatal syphilis screening programs, congenital syphilis (CS) remains a concern. PURPOSE: This study aimed to analyze the manifestation and progress of CS, including treatment and follow-up, based on a nationwide study. METHODS: From the Korean National Health Insurance Service database, a total of 548 infants were examined for CS during their first year of life from 2013 to 2018. Neurosyphilis and complications were investigated using the International Classification of Diseases-10 codes...
January 22, 2021: BMC Pediatrics
https://read.qxmd.com/read/33476040/an-extremely-mild-clinical-course-in-a-case-with-lamb2-associated-nephritis-diagnosed-with-next-generation-sequencing
#271
Koji Sakuraya, Kandai Nozu, Hitohiko Murakami, China Nagano, Tomoko Horinouchi, Shuichiro Fujinaga, Kazumoto Iijima, Yoshiyuki Ohtomo
Biallelic pathogenic variants in the laminin β2 (LAMB2) gene, which encodes laminin β2, are associated with Pierson syndrome characterized by a congenital nephrotic syndrome that rapidly progresses to end-stage renal disease, distinct ocular maldevelopment with bilateral microcoria, and neurodevelopmental deficits. However, the phenotypic spectrum of LAMB2-associated disorder is broader than expected, and cases with milder phenotypes such as isolated congenital or infantile nephrotic syndrome have also been reported...
January 21, 2021: CEN Case Reports
https://read.qxmd.com/read/33476039/development-of-nephropathy-in-an-adult-patient-after-fontan-palliation-for-cyanotic-congenital-heart-disease
#272
Kaori Hayashi, Akinori Hashiguchi, Masako Ikemiyagi, Hirobumi Tokuyama, Shu Wakino, Hiroshi Itoh
Cyanotic congenital heart disease is occasionally associated with kidney dysfunction, which is known as cyanotic nephropathy or cyanotic glomerulopathy. The clinical presentation of cyanotic nephropathy includes proteinuria, decreased estimated glomerular filtration rate, hyperuricemia, thrombocytopenia, or polycythemia. Although advances in surgical procedures have improved the prognosis of cyanotic congenital heart diseases, adult cases of cyanotic nephropathy are still rare, and there are few reports of kidney biopsy in adults with cyanotic nephropathy...
January 21, 2021: CEN Case Reports
https://read.qxmd.com/read/33474581/effectiveness-and-risks-of-endoscopic-management-compared-to-vesicoureteral-reimplantation-in-patients-with-high-grade-vesicoureteral-reflux-systematic-review-and-network-meta-analysis
#273
Sergio Hernando Mina-Riascos, Nicolas Fernández, Herney Andrés García-Perdomo
The purpose of this study is to determine the effectiveness and safety of endoscopic management compared to ureterovesical reimplantation in pediatric patients with high-grade vesicoureteral reflux in terms of urinary tract infection. We performed a network meta-analysis. We searched in MEDLINE, EMBASE, LILACS, and CENTRAL. We included clinical experiments, quasi-experiments, and cohorts studies. The population was men and women between 1 month and 15 years old. Patients had primary high-grade VUR diagnosed by voiding cystourethrography...
May 2021: European Journal of Pediatrics
https://read.qxmd.com/read/33472995/risk-factors-of-early-mortality-after-surgical-treatment-for-infective-endocarditis
#274
Youpeng Ling, Xuliang Chen, Yingji Chen, Mi Sa, Wangjun Luo
OBJECTIVES: To explore the basic clinical characteristics and relevant factors affecting the early postoperative prognosis in patients with infective endocarditis (IE). METHODS: A total of 702 patients with IE, who underwent surgery in Xiangya Hospital, Central South University from January 1981 to June 2019, were studied and the data were collected through the paper records and the hospital information system. The patients from January 1981 to June 2010 served as an early group ( n =224), and other patients from July 2010 to June 2019 served as a recent group ( n =478)...
December 28, 2020: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://read.qxmd.com/read/33470922/sclerosing-epithelioid-fibrosarcoma-of-the-kidney-first-reported-case-in-a-young-child
#275
Justin L Kurtz, Serena Y Tan, Florette K Hazard
Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of fibrosarcoma primarily arising in the deep soft tissue of the extremities and trunk. Despite having the morphologic appearance of a low-grade sarcoma, it generally has an aggressive clinical course with frequent local recurrences and distant metastases. It typically occurs in middle aged adults and is characterized by immunoexpression of MUC4 and recurrent gene fusions, most commonly EWSR1-CREB3L1 . We report a primary renal SEF in a 4-year-old male...
January 20, 2021: Pediatric and Developmental Pathology
https://read.qxmd.com/read/33470357/impact-of-the-use-of-nephrotoxic-drugs-in-critically-ill-pediatric-patients
#276
Jáder Pereira Almeida, Paulo Ramos David João, Lucimary de Castro Sylvestre
OBJECTIVE: To evaluate the association between the use of nephrotoxic drugs and acute kidney injury in critically ill pediatric patients. METHODS: This was a retrospective cohort study involving all children admitted to the intensive care unit of a pediatric hospital during a 1-year period. Acute kidney injury was defined according to the KDIGO classification. Patients with a length of hospital stay longer than 48 hours and an age between 1 month and 14 years were included...
October 2020: Revista Brasileira de Terapia Intensiva
https://read.qxmd.com/read/33469725/genetics-of-agenesis-hypoplasia-of-the-uterus-and-vagina-narrowing-down-the-number-of-candidate-genes-for-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#277
Sasha Mikhael, Sonal Dugar, Madison Morton, Lynn P Chorich, Kerlene Berwick Tam, Amy C Lossie, Hyung-Goo Kim, James Knight, Hugh S Taylor, Souhrid Mukherjee, John A Capra, John A Phillips, Michael Friez, Lawrence C Layman
PURPOSE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown except for rare variants in several genes. Many candidate genes have been suggested by mouse models and human studies. The purpose of this study was to narrow down the number of candidate genes. METHODS: Whole exome sequencing was performed on 111 unrelated individuals with MRKH; variant analysis focused on 72 genes suggested by mouse models, human studies of physiological candidates, or located near translocation breakpoints in t(3;16)...
January 19, 2021: Human Genetics
https://read.qxmd.com/read/33464870/evidence-of-cu-i-coupling-with-creatinine-using-cuprous-nanoparticles-encapsulated-with-polyacrylic-acid-gel-cu-ii-in-facilitating-the-determination-of-advanced-kidney-dysfunctions
#278
Surachate Kalasin, Pantawan Sangnuang, Porntip Khownarumit, I Ming Tang, Werasak Surareungchai
An electrochemical-based sensor created for creatinine detection has been developed for early point-of-care (POC) of diagnosis of renal illnesses. Useful information for the preventive diagnosis and clinical treatments of congenital disorders of creatinine mechanism, advanced liver and kidney diseases, and renal dysfunction can be obtained by the noninvasive evaluation of the creatinine levels in urine. The direct detection of creatinine can be achieved using the modified nanocomposite of cuprous nanoparticles encapsulated by polyacrylic acid (PAA) gel-Cu(II) fabricating on a screen-printed carbon electrode...
February 10, 2020: ACS Biomaterials Science & Engineering
https://read.qxmd.com/read/33462046/a-wide-spectrum-of-rare-clinical-variants-of-zinner-syndrome
#279
Harkirat Singh Talwar, Ankur Mittal, Tushar Aditya Narain, Vikas Kumar Panwar
Congenital malformations of the seminal vesicles (SVs) are rare and are associated with abnormalities of the ipsilateral urinary tracts as embryologically both the ureteral buds and SVs arise from the mesonephric ducts. The triad of SV cysts, ipsilateral renal agenesis and ejaculatory duct obstruction is known as the Zinner syndrome. We, herein, present three very rare presentations of Zinner syndrome. Case 1 presented with haematuria, and was found to have a large SV cyst with stones and underwent a robotic cyst excision...
January 18, 2021: BMJ Case Reports
https://read.qxmd.com/read/33461205/acute-kidney-injury-fluid-overload-and-renal-replacement-therapy-differ-by-underlying-diagnosis-in-neonatal-extracorporeal-support-and-impact-mortality-disparately
#280
Heidi J Murphy, Jason Gien, Rashmi Sahay, Eileen King, David T Selewski, Brian C Bridges, David S Cooper, Geoffrey M Fleming, Matthew L Paden, Michael Zappitelli, Katja M Gist, Rajit K Basu, Jennifer G Jetton, David Askenazi
INTRODUCTION: We aimed to characterize acute kidney injury (AKI), fluid overload (FO), and renal replacement therapy (RRT) utilization by diagnostic categories and examine associations between these complications and mortality by category. METHODS: To test our hypotheses, we conducted a retrospective multicenter, cohort study including 446 neonates (categories: 209 with cardiac disease, 114 with congenital diaphragmatic hernia [CDH], 123 with respiratory disease) requiring extracorporeal membrane oxygenation (ECMO) between January 1, 2007, and December 31, 2011...
January 18, 2021: Blood Purification
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