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https://www.readbyqxmd.com/read/30291279/ccdc114-is-mutated-in-patient-with-a-complex-phenotype-combining-primary-ciliary-dyskinesia-sensorineural-deafness-and-renal-disease
#1
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
#2
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)
https://www.readbyqxmd.com/read/30237475/survival-and-healthcare-utilization-of-infants-diagnosed-with-lethal-congenital-malformations
#3
Jacqueline E Nguyen, Jason L Salemi, Jean P Tanner, Russell S Kirby, Ronald P Sutsko, Terri L Ashmeade, Hamisu M Salihu, Laura L Drach
OBJECTIVE: We assessed survival, hospital length of stay (LOS), and costs of medical care for infants with lethal congenital malformations, and also examined the relationship between medical and surgical therapies and survival. STUDY DESIGN: Retrospective cohort study including infants born 1998-2009 with lethal congenital malformations, identified using a longitudinally linked maternal/infant database. RESULTS: The cohort included 786 infants: trisomy 18 (T18, n = 350), trisomy 13 (T13, n = 206), anencephaly (n = 125), bilateral renal agenesis (n = 53), thanatophoric dysplasia/achondrogenesis/lethal osteogenesis imperfecta (n = 38), and infants > 1 of the birth defects (n = 14)...
September 20, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/30235266/a-splice-site-variant-in-inpp5e-causes-diffuse-cystic-renal-dysplasia-and-hepatic-fibrosis-in-dogs
#4
Kati J Dillard, Marjo K Hytönen, Daniel Fischer, Kimmo Tanhuanpää, Mari S Lehti, Katri Vainio-Siukola, Anu Sironen, Marjukka Anttila
Ciliopathies presenting as inherited hepatorenal fibrocystic disorders are rare in humans and in dogs. We describe here a novel lethal ciliopathy in Norwich Terrier puppies that was diagnosed at necropsy and characterized as diffuse cystic renal disease and hepatic fibrosis. The histopathological findings were typical for cystic renal dysplasia in which the cysts were located in the straight portion of the proximal tubule, and thin descending and ascending limbs of Henle's loop. The pedigree of the affected puppies was suggestive of an autosomal recessive inheritance and therefore, whole exome sequencing and homozygosity mapping were used for identification of the causative variant...
2018: PloS One
https://www.readbyqxmd.com/read/30234637/wolcott-rallison-syndrome-with-different-clinical-presentations-and-genetic-patterns-in-2-infants
#5
Mohamad Ahangar Davoodi, Zohreh Karamizadeh, Fatemeh Ghobadi, Nasrin Shokrpour
Wolcott-Rallison syndrome is a rare disease presenting with insulin-dependent diabetes mellitus (DM) before 6 months old, skeletal dysplasia after 6 months old, and liver failure. Other manifestations are renal failure, microcephaly, epilepsy, central hypothyroidism, neutropenia, and dental and dermal problems. The cases were 2 patients from 2 different states of Iran (Khoozestan and Fars) who had developed DM before 6 months old. The first one was a 7-month-old infant who was healthy; in the genetic study (screening), autosomal recessive pattern and novel deletion in EIF2AK3 were reported; her sister had died at 5...
September 17, 2018: Health Care Manager
https://www.readbyqxmd.com/read/30223725/spontaneous-accessory-renal-artery-aneurysm-rupture-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#6
Kallie Roberts, Betty Fan, Robert Brightwell
True renal artery aneurysms are rare. Ruptured aneurysms are even rarer but can have devastating consequences. Renal artery aneurysms most commonly occur in patients with hypertension, atherosclerosis, or fibromuscular dysplasia. Treatment options can range from embolization to nephrectomy. We describe an interesting case of spontaneous accessory renal artery aneurysm rupture in a 44-year-old female with neurofibromatosis type 1 (NF1) who otherwise had no medical problems. She was successfully treated with selective coil embolization, recovered without complications, and maintained preoperative renal function...
September 17, 2018: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/30217349/a-rare-cause-of-abdominal-pain-fibromuscular-dysplasia
#7
N Belfeki, L Baranes, I Thai, C Lacout, S Diamantis
A 50-year-old man had a sudden severe abdominal pain. An abdominal enhanced computed tomographic scan revealed irregular stenosis of the celiac artery, dissection of the hepatic artery and of the left common iliac artery, and mid stenosis of the right renal artery with extended renal parenchymal hypodensity. After careful evaluation, the patient was diagnosed with fibromuscular dysplasia. Systematic head and neck CT angiography revealed right vertebral arterial stenosis and saccular aneurysm of the left vertebral artery...
September 2018: Journal de Médecine Vasculaire
https://www.readbyqxmd.com/read/30191413/ultrasound-and-color-doppler-applications-in-chronic-kidney-disease
#8
REVIEW
Ilaria Petrucci, Anna Clementi, Concetto Sessa, Irene Torrisi, Mario Meola
Chronic kidney disease (CKD) includes all clinical features and complications during the progression of various kidney conditions towards end-stage renal disease (ESRD). These conditions include immune and inflammatory disease such as: primary and hepatitis C virus (HCV)-related glomerulonephritis; infectious disease such as pyelonephritis with or without reflux and tuberculosis; vascular disease such as chronic ischemic nephropathy; hereditary and congenital disease such as polycystic disease and congenital cystic dysplasia; metabolic disease including diabetes and hyperuricemia; and systemic disease (collagen disease, vasculitis, myeloma)...
September 6, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/30175298/successful-surgical-treatment-with-ex-vivo-technique-in-a-patient-with-renal-artery-aneurysm-rupture-and-bilateral-arteriovenous-fistula
#9
Alexander Ivandaev, Ainur Askerova, Andrey Zotikov, Anzhelika Kozhanova, Wolfgang Schima, Grigory Karmazanovsky
Renal arteriovenous fistulas are pathologic communications between the renal arteries and veins without interconnecting capillaries. Reports on the combination of fibromuscular dysplasia, aneurysms, and renal arteriovenous fistula are extremely rare in the literature. In the case of renal arteriovenous aneurysm rupture, urgent nephrectomy was the only life-saving procedure reported. The ex vivo approach seems to be an appropriate alternative to nephrectomy. This article presents a case of successful treatment of bilateral fibromuscular dysplasia with aneurysm and arteriovenous fistulas complicated by renal artery aneurysm rupture...
September 2018: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/30172052/living-related-kidney-transplantation-with-catheterizable-urinary-conduit-in-prune-belly-syndrome-a-case-report
#10
Taro Banno, Yoichi Kakuta, Kohei Unagami, Akiko Sakoda, Masayoshi Okumi, Hideki Ishida, Kazunari Tanabe
INTRODUCTION: Prune belly syndrome (PBS) presents with both renal dysplasia and urinary tract abnormalities. When performing kidney transplantation in PBS patients with kidney failure, extensive pretransplant urinary tract preparation may be necessary. PRESENTATION OF CASE: We report the case of a 36-year-old man with PBS who underwent living-related kidney transplantation with urinary diversion using the Mitrofanoff principle. The patient had a bilateral loop ureterostomy for a urethral obstruction...
August 19, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/30134288/intellectual-disability-and-psychotropic-medications
#11
Lisa Herzig, Nina de Lacy, George Capone, Jenny Radesky
Andrew is a 17-year-old male with trisomy 21, commonly known as Down syndrome, and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of a complete atrioventricular canal that was repaired as an infant and poorly controlled infantile spasms. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia...
September 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/30118583/slc26a3-deficiency-is-associated-with-epididymis-dysplasia-and-impaired-sperm-fertilization-potential-in-the-mouse
#12
Elma El Khouri, Marjorie Whitfield, Laurence Stouvenel, Archana Kini, Brigitte Riederer, Patrick Lores, Dorothee Roemermann, Gabriella di Stefano, Joël R Drevet, Fabrice Saez, Ursula Seidler, Aminata Touré
Members of the solute carrier 26 (SLC26) family have emerged as important players in mediating anions fluxes across the plasma membrane of epithelial cells, in cooperation with the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. Among them, SLC26A3 acts as a chloride/bicarbonate exchanger, highly expressed in the gastrointestinal, pancreatic and renal tissues. In humans, mutations in the SLC26A3 gene were shown to induce congenital chloride-losing diarrhea (CLD), a rare autosomal recessive disorder characterized by life-long secretory diarrhea...
August 17, 2018: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/30114972/endovascular-repair-of-ruptured-hepatic-artery-pseudoaneurysm-secondary-to-fibromuscular-dysplasia
#13
Kara A Rothenberg, Graeme E McFarland, Jordan R Stern
We describe successful endovascular treatment of a patient with fibromuscular dysplasia of the celiac axis leading to development of a common hepatic artery pseudoaneurysm with contained rupture. An 81-year-old woman was transferred to our quaternary care center with concern for a hepatic artery rupture. Further imaging demonstrated a common hepatic artery pseudoaneurysm with surrounding hematoma as well as multifocal areas of narrowing and dilatation in the celiac trunk consistent with fibromuscular dysplasia...
August 16, 2018: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/30095653/retrospective-study-to-identify-risk-factors-for-chronic-kidney-disease-in-children-with-congenital-solitary-functioning-kidney-detected-by-neonatal-renal-ultrasound-screening
#14
Adela Urisarri, Marta Gil, Natalia Mandiá, Luís Aldamiz-Echevarría, Roca Iria, Domingo González-Lamuño, María-Luz Couce
To evaluate the prognostic significance of factors frequently associated with a reduction in renal mass, such as prematurity, low birth weight, and congenital anomalies of kidney and urinary tract (CAKUT), in patients with solitary functioning kidney (SFK) and investigate signs of early renal injury due to glomerular hyperfiltration damage or dysplasia in the remaining kidney.Retrospective observational study of congenital SFK diagnosed and followed at a tertiary care hospital over a period of 10 years in which 32,900 newborns underwent routine neonatal abdominal ultrasound screening...
August 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30093259/prenatal-renal-parenchymal-area-as-a-predictor-of-early-end-stage-renal-disease-in-children-with-vesicoamniotic-shunting-for-lower-urinary-tract-obstruction
#15
Paulo Renato Marcelo Moscardi, Chryso P Katsoufis, Mona Jahromi, Ruben Blachman-Braun, Marissa J DeFreitas, Kristin Kozakowski, Miguel Castellan, Andrew Labbie, Rafael Gosalbez, Alireza Alam
BACKGROUND: Vesicoamniotic shunting (VAS) and other bladder drainage techniques for fetal lower urinary tract obstruction (LUTO) have been proven to ameliorate pulmonary hypoplasia and increase survival in patients with an initial poor prognosis. Currently there are limited prognostic tools available during gestation to evaluate and predict postnatal renal function. OBJECTIVE: The aim was to describe the prenatal growth of the renal parenchymal area (RPA) in patients with LUTO and determine its application as a predictor of renal function at one year of life...
July 24, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/30090700/renal-artery-fibromuscular-dysplasia-in-pompe-disease-a-case-report
#16
Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez
Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. We propose that the association of LOPD and arteriopathy should always be considered in clinical practice...
September 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/30083484/fibromuscular-dysplasia-presenting-as-a-renal-infarct
#17
Sidra Khalid, Jad H Daw, Ashoka Nautiyal, Hamed Daw
Fibromuscular dysplasia (FMD) is a condition caused by an abnormal development or growth of cells in the arterial walls in the body. We present a case of a 49-year-old male who came in with a sudden onset of severe left-sided abdominal pain. Computed tomography (CT) scan of the abdomen was suggestive of a left renal infarct. He underwent renal angiography that showed FMD and a clot located in the anterior branch of the left renal artery. The patient was then treated with apixaban for the clot and amlodipine for the associated hypertension...
March 14, 2018: Curēus
https://www.readbyqxmd.com/read/30064124/natural-history-of-cervical-artery-fibromuscular-dysplasia-and-associated-neurovascular-events
#18
Daniella Kadian-Dodov, Judith Z Goldfinger, Susan Gustavson, Jeffrey W Olin
BACKGROUND AND PURPOSE: Fibromuscular dysplasia (FMD) is a non-atherosclerotic arteriopathy most often affecting the carotid and renal arteries. In the United States Registry for FMD, 41.7% of patients experienced an aneurysm and/or dissection by the time of entry into the Registry. We sought to determine the occurrence of neurovascular events after FMD diagnosis and any changes on cervical artery imaging that may be attributable to FMD. METHODS: Patients followed at the Mount Sinai Medical Center (US Registry for FMD enrollment center) with confirmed FMD and > 1 cervical artery imaging study (at least ± 6 months from the baseline carotid duplex ultrasound [CDU]) between the years 2003 and 2015 were included...
2018: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/30039794/sporadic-pedunculated-duodenal-adenomas-clinical-presentations-and-endoscopic-management-a-case-series
#19
G Bruno, P Trentino, M A Viarengo, A Toma, C Virili, M Centanni, A Picarelli, P Gozzo, F Accarpio, B Porowska
The prevalence of sporadic duodenal polyps is estimated to be 0.3%-4.6% in patients referred for an upper endoscopy. Most of patients are asymptomatic (66-80%) at the time of diagnosis though bleeding, anemia and abdominal pain are the most commonly reported symptoms. These are related to the polyp's size, location and histological characteristics. We describe three cases of big, pedunculated nonampullary sporadic duodenal polyps (tubulovillous low-grade dysplasia adenomas) located in the second part of the duodenum and characterized by different clinical presentations, managed in our Endoscopic Unit within one year (between 2016 and 2017)...
July 2018: Il Giornale di Chirurgia
https://www.readbyqxmd.com/read/30027575/time-trends-regarding-the-etiology-of-renal-artery-stenosis-18-years-experience-from-the-china-center-for-cardiovascular-disease
#20
Hong-Liang Xiong, Meng Peng, Xiong-Jing Jiang, Wu-Qiang Che, Hui Dong, Yang Chen, Yu-Bao Zou, Run-Lin Gao, Li-Sheng Liu
The time trends regarding the etiology of renal artery stenosis (RAS) are changing, but few investigations have focused on these issues. This study aimed to analyze the time trends regarding the etiology of RAS in a large patient sample from the China Center for Cardiovascular Disease. Consecutive inpatients with RAS from January 1999 to December 2016 were enrolled in this study. The etiologic diagnosis of RAS was based on established criteria. We retrospectively analyzed the time trends regarding the etiology of RAS during an 18-year period...
September 2018: Journal of Clinical Hypertension
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