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https://www.readbyqxmd.com/read/30528204/current-epidemiology-and-antenatal-presentation-of-posterior-urethral-valves-outcome-of-baps-cass-national-audit
#1
Ewan Brownlee, Ruth Wragg, Andy Robb, Harish Chandran, Marian Knight, Liam McCarthy
AIM: Posterior urethral valves (PUVs) are the most common cause of congenital bladder outlet obstruction (BOO) in boys and end-stage renal failure (ESRF) in childhood. In the 1980s, 1 in 4000 boys had PUV. Presentation was 1/3 antenatal/neonatally, 1/3 postnatal, 1/3 late (>1 year). This study aimed to describe the current proportions in a contemporary cohort. METHODS: A national audit (BAPS CASS) of referrals in the UK and Ireland of boys diagnosed with suspected or confirmed PUV in a year was conducted...
November 7, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/30514997/an-infant-with-neonatal-diabetes-and-double-outlet-right-ventricle-wolcott-rallison-syndrome
#2
Ramush Bejiqi, Ragip Retkoceri, Naim Zeka, Rinor Bejiqi, Samir Bejic
Introduction: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Cardiovascular system is very rarely affected and there are a limited number of publications where WRS is associated with congenital heart disease. The aim of this interesting case is to report an infant with Wolcott - Rallison syndrome, type I diabetes mellitus, and complex congenital heart disease, diagnosed in a pre term neonate...
October 2018: Medical Archives
https://www.readbyqxmd.com/read/30510913/awakening-the-sleeping-kidney-in-a-dialysis-dependent-patient-with-fibromuscular-dysplasia-a-case-report-and-review-of-literature
#3
Mogamat-Yazied Chothia, Mogamat Razeen Davids, Raisa Bhikoo
Renal artery stenosis is a common cause of secondary hypertension and chronic kidney disease. We present here a case of fibromuscular dysplasia that was treated with surgical revascularization, resulting in recovery of kidney function with eventual cessation of chronic dialysis. The case involves a 25-year-old female with coincidentally discovered hypertension, who underwent further investigations revealing a diagnosis of renal artery stenosis due to fibromuscular dysplasia. She subsequently developed two episodes of malignant hypertension, with flash pulmonary oedema and worsening renal failure that resulted in dialysis dependence...
November 24, 2018: World Journal of Nephrology
https://www.readbyqxmd.com/read/30500650/an-unusual-case-of-bilateral-upper-extremity-ischemiacaused-by-forearm-vessel-fibromuscular-dysplasia
#4
I Antonescu, M Knowles, E Wirtz, L Pascarella
Fibromuscular dysplasia (FMD) is a non-atherosclerotic disease that generally affects medium-sized arteries. The distribution typically involves the renal, extracranial carotid/vertebral, and iliac arteries. FMD in other vascular beds is rare. We herein present the case of a 47-year-old female with rapid-onset bilateral digital ischemia. Initial differential diagnosis included vasospastic disorders and vasculitis. An upper extremity arteriogram was suggestive of ulnar and radial FMD. Percutaneous intervention was not successful, and the patient was managed conservatively with symptomatic improvement...
November 27, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/30479745/cellular-ciliary-phenotyping-indicates-pathogenicity-of-novel-variants-in-ift140-and-confirms-a-mainzer-saldino-syndrome-diagnosis
#5
Machteld M Oud, Brooke L Latour, Zeineb Bakey, Stef J Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A M Cornelissen, Helger G Yntema, Miriam Schmidts, Ronald Roepman, Ernie M H F Bongers
Background: Mainzer-Saldino syndrome (MZSDS) is a skeletal ciliopathy and part of the short-rib thoracic dysplasia (SRTD) group of ciliary disorders. The main characteristics of MZSDS are short limbs, mild narrow thorax, blindness, and renal failure. Thus far, variants in two genes are associated with MZSDS: IFT140, and IFT172 . In this study, we describe a 1-year-old girl presenting with mild skeletal abnormalities, Leber congenital amaurosis, and bilateral hearing difficulties. For establishing an accurate diagnosis, we combined clinical, molecular, and functional analyses...
2018: Cilia
https://www.readbyqxmd.com/read/30479680/bilateral-renal-artery-stenosis-treated-with-drug-eluting-balloon-angioplasty-in-unique-treatment
#6
Daniele Morosetti, Marcello Chiocchi, Federica De Crescenzo, Adolfo D'Onofrio, Arezia Di Martino, Armando Raso, Roberto Floris, Roberto Gandini
Renal artery stenosis commonly manifests with hypertension refractory to medical treatment. We report a case of renal artery stenosis occurring in a 19-year-old female patient who presented with extremely high blood pressure and bilateral renal stenosis at the duplex ultrasound. Renal angiography confirmed the bilateral and irregular stenosis due to fibromuscular dysplasia, associated to extent collaterals suppling the poststenotic right renal artery. Therefore, angioplasty with drug-eluting balloon was performed in order to obtain a good vessel patency and to improve patency in the long term follow-up...
February 2019: Radiology Case Reports
https://www.readbyqxmd.com/read/30477805/conditions-and-factors-associated-with-spontaneous-coronary-artery-dissection-from-a-national-population-based-cohort-study
#7
Chayakrit Krittanawong, Anirudh Kumar, Kipp W Johnson, Yiming Luo, Bing Yue, Zhen Wang, Deepak L Bhatt
The pathophysiology of spontaneous coronary artery dissection (SCAD) is heterogeneous, associated with systemic arteriopathies and inflammatory diseases, and often compounded by environmental precipitants, genetics, or stressors. However, the frequency of these associated conditions with SCAD on a population level remains unknown. Therefore, the objective of this analysis was to evaluate heterogeneous phenotypes of SCAD in the United States using data from the Nationwide Inpatient Sample collected from January 1, 2004, to September 31, 2015...
October 30, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/30477624/-clinical-and-genetic-features-of-kallmann-syndrome-an-analysis-of-5-cases
#8
Jiao Chen, Ke Yuan, Min-Fei He, Chun-Lin Wang, Chun Chen, Yan-Lan Fang, Jian-Fang Zhu, Li Liang
Kallmann syndrome (KS) is a rare pediatric disease with major manifestations of olfactory dysfunction and hypogonadotropic hypogonadism. Five children (4 boys and 1 girl) with KS reported in this article were aged between 6 months and 19 years at the time when they attended the hospital. All the children had the clinical manifestation of hypogonadotropic hypogonadism; in addition, three children had olfactory dysfunction (two were found to have olfactory bulb dysplasia on magnetic resonance imaging), one had cleft lip and palate, and one had micropenis and cryptorchidism with right renal agenesis during infancy...
November 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/30466636/imaging-findings-in-syndromes-with-temporal-bone-abnormalities
#9
REVIEW
Daniel Thomas Ginat
There is a wide variety of congenital syndromes that can involve the temporal bone. Many of these have overlapping features due to common embryologic abnormalities, such as first and second branchial anomalies. Diagnostic imaging is often important in the workup of hearing deficits related to congenital syndromes. This article reviews the imaging features of selected congenital syndromes with temporal bone abnormalities, including Treacher Collins syndrome, oculo-auriculo-vertebral dysplasia spectrum, Klippel-Feil syndrome, branchio-oto-renal syndrome, Pierre Robin sequence, CHARGE syndrome, Pendred syndrome, Down syndrome, Trisomy 18, Turner syndrome, and neurofibromatosis type 2...
February 2019: Neuroimaging Clinics of North America
https://www.readbyqxmd.com/read/30431564/unique-imaging-findings-in-fibromuscular-dysplasia-of-renal-arteries-a-case-report
#10
Weiying Kong, Zhangxue Hu
RATIONALE: Fibromuscular dysplasia (FMD) is a rare vascular disorder that causes abnormal cell growth in arterial walls. The classic "string of beads" sign has been reported in many cases, whereas the appearance of tubular stenosis and distal tapering of renal arteries with multiple renal infarctions, as well as left kidney atrophy occurring in one patient, has not been precisely described. PATIENT CONCERNS: A 19-year-old woman presented to us with a history of elevated blood pressure without any symptoms for the past 1 month...
November 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30427554/homozygous-splicing-mutation-in-nup133-causes-galloway-mowat-syndrome
#11
Atsushi Fujita, Hiroyasu Tsukaguchi, Eriko Koshimizu, Hitoshi Nakazato, Kyoko Itoh, Shohei Kuraoka, Yoshihiro Komohara, Masaaki Shiina, Shohei Nakamura, Mika Kitajima, Yoshinori Tsurusaki, Satoko Miyatake, Kazuhiro Ogata, Kazumoto Iijima, Naomichi Matsumoto, Noriko Miyake
OBJECTIVE: Galloway-Mowat syndrome (GAMOS) is a neural and renal disorder, characterized by microcephaly, brain anomalies, and early-onset nephrotic syndrome. Biallelic mutations in WDR73 and the four subunit genes of the KEOPS complex are reported to cause GAMOS. Furthermore, an identical homozygous NUP107 (nucleoporin 107 kDa) mutation was identified in four GAMOS-like families, although biallelic NUP107 mutations were originally identified in steroid-resistant nephrotic syndrome. NUP107 and NUP133 (nucleoporin 133 kDa) are interacting subunits of the nuclear pore complex in the nuclear envelope during interphase, and these proteins are also involved in centrosome positioning and spindle assembly during mitosis...
November 14, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/30410997/minimally-invasive-management-of-zinner-s-syndrome-with-same-session-robot-assisted-seminal-vesiculectomy-and-ipsilateral-nephroureterectomy-using-a-single-geometry-of-trocars
#12
Murat Can Kiremit, Omer Acar, Alan Alper Sag, Ersin Koseoglu, Mert Kilic, Yakup Kordan, Mevlana Derya Balbay
Background: Seminal vesicle cyst is an extremely rare condition, which is frequently congenital and associated with Zinner's syndrome. This syndrome represents a constellation of seminal vesicle cyst, ipsilateral or contralateral renal agenesis or renal dysplasia, ureteral ectopia, and ejaculatory duct obstruction. We report a young symptomatic patient undergoing robot-assisted laparoscopic excision of a huge seminal vesicle cyst during which an atrophic ipsilateral kidney was discovered incidentally and managed by nephroureterectomy in the same session without changing trocar positions...
2018: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/30402192/abdominal-aortic-aneurysm-caused-by-aortic-fibromuscular-dysplasia-a-case-report
#13
Ryo Kanamoto, Shinichi Hiromatsu, Shinichi Nata, Yusuke Shintani, Hiroyuki Otsuka, Seiji Onitsuka, Hidetoshi Akashi, Hiroyuki Tanaka
Fibromuscular dysplasia (FMD) mainly develops in medium-sized arteries, including renal, extracranial, and extremity arteries, but it rarely causes abdominal aortic aneurysm (AAA). A 69-year-old woman with AAA diagnosed on ultrasonography by a home doctor visited our hospital. Contrast-enhanced computed tomography revealed a saccular aneurysm of terminal abdominal aorta. We performed abdominal aortic replacement and resected the section with aneurysm. Pathological examination of the wall tissue of the resected aneurysm revealed findings that are consistent with FMD...
September 25, 2018: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/30396722/familial-congenital-choanal-atresia-with-gata3-associated-hypoparathyroidism-deafness-renal-dysplasia-syndrome-unidentified-on-auditory-brainstem-response
#14
Makoto Kita, Yasuhiro Kuwata, Takeshi Usui
Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound analysis revealed bilateral multicystic dysplastic kidneys...
November 2, 2018: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/30365542/a-patient-derived-xenograft-model-of-cervical-cancer-and-cervical-dysplasia
#15
Luke I Larmour, Fiona L Cousins, Julie A Teague, James A Deane, Tom W Jobling, Caroline E Gargett
AIM: To develop a patient derived xenograft (PDX) model of cervical cancer and cervical dysplasia using the subrenal capsule. METHODS: Cervical cancer (12 Squamous Cell Carcinoma, 1 Adenocarcinoma, 1 Adenosquamous Carcinoma), 7 cervical dysplasia biopsy and normal cervical tissues were transplanted beneath the renal capsule of immunocompromised NOD/SCID/gamma mice. Resulting tumours were harvested and portions serially transplanted into new recipient mice for up to three in vivo passages...
2018: PloS One
https://www.readbyqxmd.com/read/30359671/decreased-h3k9ac-level-of-at2r-mediates-the-developmental-origin-of-glomerulosclerosis-induced-by-prenatal-dexamethasone-exposure-in-male-offspring-rats
#16
Bin Li, Yanan Zhu, Haiyun Chen, Hui Gao, Hangyuan He, Na Zuo, Linguo Pei, Wen Xie, Liaobin Chen, Ying Ao, Hui Wang
This study aimed to demonstrate that prenatal dexamethasone exposure (PDE) can induce kidney dysplasia in utero and adult glomerulosclerosis in male offspring, and to explore the underlying intrauterine programming mechanisms. Pregnant rats were subcutaneously administered dexamethasone 0.2 mg/kg.d from gestational day (GD) 9 to GD20. The male fetus on GD20 and the adult offspring at age of postnatal week 28 were analyzed. The adult offspring kidneys in the PDE group displayed glomerulosclerosis, elevated levels of serum creatinine and urine protein, ultrastructural damage of podocytes, the reduced expression levels of podocyte marker genes, nephrin and podocin...
October 22, 2018: Toxicology
https://www.readbyqxmd.com/read/30343992/surgical-renovascular-reconstruction-for-renal-artery-stenosis-and-aneurysm-long-term-durability-and-survival
#17
Johnny Steuer, David Bergqvist, Martin Björck
OBJECTIVE/BACKGROUND: To study functional outcome, mortality, and dialysis free survival in patients undergoing open primary surgical repair of renal artery stenosis (RAS) or aneurysm (RAA). METHODS: This was a retrospective single centre study of patients undergoing open surgical renal artery reconstruction from 1993 to 2007. Blood pressure, renal function, dialysis dependence, vessel patency, and mortality were registered. Survival was investigated by cross matching with the population registry, yielding up to 20 years of follow up...
October 18, 2018: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/30327448/biallelic-mutations-in-exoc3l2-cause-a-novel-syndrome-that-affects-the-brain-kidney-and-blood
#18
Adel Shalata, Supanun Lauhasurayotin, Zvi Leibovitz, Hongbing Li, Diane Hebert, Santhosh Dhanraj, Yarin Hadid, Mohammed Mahroum, Jacob Bajar, Sandro Egenburg, Ayala Arad, Mordechai Shohat, Sami Haddad, Hassan Bakry, Houtan Moshiri, Stephen W Scherer, Shay Tzur, Yigal Dror
BACKGROUND: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown. OBJECTIVE: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families...
October 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/30291279/ccdc114-is-mutated-in-patient-with-a-complex-phenotype-combining-primary-ciliary-dyskinesia-sensorineural-deafness-and-renal-disease
#19
Ping Li, Yani He, Guangyan Cai, Fei Xiao, Jie Yang, Qinggang Li, Xiangmei Chen
Ciliopathies-are widely recognized and associated with a wide variety of developmental and degenerative disorders. Most cilia-related diseases have renal manifestation, and there is a cross- overlapping relationship between gene mutations and cilia disease. Here, we investigated the clinical and pathological manifestation of a rare disease patient. We present the case of a 15-year-old child with dysplasia and multiple-organ damage who was initially diagnosed with nephrotic syndrome. The patient's kidney disease progressed to renal failure and received hemodialysis 10 months after renal biopsy...
October 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/30278516/a-case-report-of-intrahepatic-bile-duct-confluence-anomalies-in-vacterl-syndrome
#20
Yoonsun Yoon, Kyungju Kim, Suk Keu Yeom, JeeHyun Lee, Yoon Lee
RATIONALE: The clinical manifestations of VACTERL association include vertebral anomalies, anal atresia, congenital heart diseases, tracheoesophageal fistula, renal dysplasia, and limb abnormalities. The association of intrahepatic anomalies and VACTERL syndrome is a rare coincidence. VACTER syndrome and intrahepatic bile drainage anomalies might be genetically related. PATIENT CONCERNS: A 12-year-old girl presented with episodic colicky abdominal pain, nausea, and vomiting for several years...
September 2018: Medicine (Baltimore)
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