keyword
MENU ▼
Read by QxMD icon Read
search

Renal hypoplasia

keyword
https://www.readbyqxmd.com/read/30094008/exocrine-pancreatic-dysfunction-is-common-in-hepatocyte-nuclear-factor-1%C3%AE-associated-renal-disease-and-can-be-symptomatic
#1
Rhian L Clissold, Jon Fulford, Michelle Hudson, Beverley M Shields, Timothy J McDonald, Sian Ellard, Andrew T Hattersley, Coralie Bingham
Background: Heterozygous mutations in the HNF1B gene are the most common monogenic cause of developmental kidney disease. Extrarenal phenotypes frequently occur, including diabetes mellitus and pancreatic hypoplasia; the latter is associated with subclinical exocrine dysfunction. We measured faecal elastase-1 in patients with HNF1B-associated disease regardless of diabetes status and assessed the degree of symptoms associated with pancreatic exocrine deficiency. Methods: Faecal elastase-1 was measured in 29 patients with a known HNF1B mutation...
August 2018: Clinical Kidney Journal
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
#2
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/30086703/a-novel-mutation-in-eya1-in-a-chinese-family-with-branchio-oto-renal-syndrome
#3
Yan-Gong Wang, Shu-Ping Sun, Yi-Ling Qiu, Qing-He Xing, Wei Lu
BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila "eye absent" gene on chromosome 8q13.3, is recognized as one of the most important genes associated with BOR syndrome. METHODS: The proposita in this study was a 5-year-old Chinese girl with hearing loss, bilateral otitis media with effusion, microtia, facial hypoplasia, palatoschisis, and bilateral branchial cleft fistulae...
August 7, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/30012211/extracorporeal-membrane-oxygenation-support-in-a-newborn-with-lower-urinary-tract-obstruction-and-pulmonary-hypoplasia-a-case-report
#4
Eva Gatzweiler, Bernd Hoppe, Oliver Dewald, Christoph Berg, Andreas Müller, Heiko Reutter, Florian Kipfmueller
BACKGROUND: Survival of neonates with intrauterine renal insufficiency and oligo- or anhydramnios correlates with the severity of secondary pulmonary hypoplasia. Early prenatal diagnosis together with repetitive amnioinfusions and modern intensive care treatment have improved the prognosis of these neonates. Extracorporeal membrane oxygenation is an established treatment option, mainly applied to neonates with pulmonary hypoplasia caused by congenital diaphragmatic hernia. However, a few case reports of extracorporeal membrane oxygenation in neonates with lower urinary tract obstruction have been published...
July 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29973660/could-the-interaction-between-lmx1b-and-pax2-influence-the-severity-of-renal-symptoms
#5
Susanna Negrisolo, Andrea Carraro, Giulia Fregonese, Elisa Benetti, Franz Schaefer, Marta Alberti, Salvatore Melchionda, Rita Fischetto, Mario Giordano, Luisa Murer
Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and renal congenital abnormalities. The renal involvement, ranging from hematuria and proteinuria to end-stage renal disease, is present in 22-60% of NPS cases. Heterozygous variants in LMX1B are known to be responsible of NPS and it has been hypothesized that the variable expressivity is due to the interaction of LMX1B with other developmental genes. We reported a case of co-presence of LMX1B and PAX2 variants in a child with extrarenal manifestation of NPS and end-stage renal disease but congenital bilateral renal hypodysplasia and vesicoureteral reflux...
July 4, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29961928/new-insights-into-the-role-of-hnf-1%C3%AE-in-kidney-patho-physiology
#6
REVIEW
Silvia Ferrè, Peter Igarashi
Hepatocyte nuclear factor-1β (HNF-1β) is an essential transcription factor that regulates the development and function of epithelia in the kidney, liver, pancreas, and genitourinary tract. Humans who carry HNF1B mutations develop heterogeneous renal abnormalities, including multicystic dysplastic kidneys, glomerulocystic kidney disease, renal agenesis, renal hypoplasia, and renal interstitial fibrosis. In the embryonic kidney, HNF-1β is required for ureteric bud branching, initiation of nephrogenesis, and nephron segmentation...
July 1, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29949115/development-of-antibody-mediated-rejection-shortly-after-acute-cellular-rejection-in-a-pediatric-kidney-transplantation-recipient
#7
Mari Okada, Koichi Kamei, Kentaro Matsuoka, Shuichi Ito
Acute rejection is a major cause of graft loss in patients with kidney transplantations. However, the appropriate timing for performing a biopsy is often difficult to gauge in a clinical settings. We encountered an 8-year-old boy in whom antibody mediated rejection (AMR) associated with de novo donor-specific antibody (DSA) developed shortly after an episode of type IA acute cellular rejection (ACR). He had received a preemptive ABO-compatible kidney transplantation due to bilateral renal hypoplasia. Type IA ACR developed 2 months after transplantation and was successfully treated with methylprednisolone pulse therapy (MPT) and gusperimus hydrochloride...
June 12, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29898689/obstetric-outcomes-and-effects-on-babies-born-to-women-treated-for-epilepsy-during-pregnancy-in-a-resource-limited-setting-a-comparative-cohort-study
#8
Priyadarshani Galappatthy, Chiranthi Kongala Liyanage, Marianne Nishani Lucas, Dilini T L M Jayasekara, Sachith Aloka Abhayaratna, Chamari Weeraratne, Kusum De Abrew, Padma Sriyani Gunaratne, Ranjani Gamage, Chandrika N Wijeyaratne
BACKGROUND: Management of epilepsy during pregnancy in a resource-limited setting (RLS) is challenging. This study aimed to assess obstetric outcomes and effects on babies of women with epilepsy (WWE) exposed to Anti-epileptic drugs (AEDs) compared to non-exposed controls in a RLS. METHODS: Pregnant WWE were recruited from antenatal and neurology clinics of a tertiary care hospitals in Sri Lanka. Patients were reviewed in each trimester and post-partum. Medication adherence, adverse effects, seizure control and carbamazepine blood levels were monitored...
June 14, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29895697/centrosome-amplification-disrupts-renal-development-and-causes-cystogenesis
#9
Lai Kuan Dionne, Kyuhwan Shim, Masato Hoshi, Tao Cheng, Jinzhi Wang, Veronique Marthiens, Amanda Knoten, Renata Basto, Sanjay Jain, Moe R Mahjoub
Centrosome number is tightly controlled to ensure proper ciliogenesis, mitotic spindle assembly, and cellular homeostasis. Centrosome amplification (the formation of excess centrosomes) has been noted in renal cells of patients and animal models of various types of cystic kidney disease. Whether this defect plays a causal role in cystogenesis remains unknown. Here, we investigate the consequences of centrosome amplification during kidney development, homeostasis, and after injury. Increasing centrosome number in vivo perturbed proliferation and differentiation of renal progenitors, resulting in defective branching morphogenesis and renal hypoplasia...
July 2, 2018: Journal of Cell Biology
https://www.readbyqxmd.com/read/29851065/a-zpr1-mutation-is-associated-with-a-novel-syndrome-of-growth-restriction-distinct-craniofacial-features-alopecia-and-hypoplastic-kidneys
#10
Y A Ito, A C Smith, K D Kernohan, I A Pena, A Ahmed, L M McDonell, C Beaulieu, D E Bulman, A Smidt, S L Sawyer, D A Dyment, K M Boycott, C L Clericuzio
A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in 4 children from 3 families of New Mexican Hispanic heritage. Three of the children died before 3 years of age from uremia and/or sepsis. Exome sequencing of the surviving individual identified a homozygous c...
May 30, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29808250/prenatal-diagnosis-of-wolf-hirschhorn-syndrome-from-ultrasound-findings-diagnostic-technology-to-genetic-counseling
#11
Ya Xing, Jimmy Lloyd Holder, Yong Liu, Meizhen Yuan, Qi Sun, Xiaoxing Qu, Linbei Deng, Jia Zhou, Yingjun Yang, Ming Guo, Sau-Wai Cheung, Luming Sun
PURPOSE: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome due to terminal chromosome 4p deletions. We explored prenatal diagnosis of WHS by ultrasound as well as karyotype and single nucleotide polymorphism array (SNP array) to characterize the structural variants of WHS prenatally. METHODS: Ten prenatal cases of WHS were evaluated for the indication of the invasive testing, the ultrasound features, and cytogenetic and microarray results. RESULTS: Eight cases were diagnosed by karyotyping and SNP array, while two cases were detected only by SNP array...
August 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29779709/a-mutation-in-transcription-factor-mafb-causes-focal-segmental-glomerulosclerosis-with-duane-retraction-syndrome
#12
Yoshinori Sato, Hiroyasu Tsukaguchi, Hiroyuki Morita, Koichiro Higasa, Mai Thi Nhu Tran, Michito Hamada, Toshiaki Usui, Naoki Morito, Shoichiro Horita, Takao Hayashi, Junko Takagi, Izumi Yamaguchi, Huan Thanh Nguyen, Masayo Harada, Kiyoko Inui, Yuichi Maruta, Yoshihiko Inoue, Fumihiko Koiwa, Hiroshi Sato, Fumihiko Matsuda, Shinya Ayabe, Seiya Mizuno, Fumihiro Sugiyama, Satoru Takahashi, Ashio Yoshimura
Focal segmental glomerulosclerosis (FSGS) is a leading cause of end-stage renal disease in children and adults. Genetic factors significantly contribute to early-onset FSGS, but the etiologies of most adult cases remain unknown. Genetic studies of monogenic syndromic FSGS exhibiting extra-renal manifestations have uncovered an unexpected biological role for genes in the development of both podocytes and other cellular lineages. To help define these roles, we studied two unrelated families with FSGS associated with Duane Retraction Syndrome, characterized by impaired horizontal eye movement due to cranial nerve malformation...
August 2018: Kidney International
https://www.readbyqxmd.com/read/29771971/constitutive-metanephric-mesenchyme-specific-expression-of-interferon-gamma-causes-renal-dysplasia-by-regulating-sall1-expression
#13
Kangsun Yun, Arthur A Hurwitz, Alan O Perantoni
Transplacental viral and parasitic infections have been shown to initiate an innate response in the mammalian embryo by increasing the expression of pro-inflammatory cytokines such as interferon-gamma (Ifng). However, the developmental consequences of an activated innate immunity and, in particular, the effects of induction of Ifng expression independent of infection have been largely overlooked. Here, we demonstrate in vivo that the conditional overexpression of Ifng in metanephric mesenchymal (MM) progenitors results in renal agenesis or hypoplasia...
2018: PloS One
https://www.readbyqxmd.com/read/29742659/anhydramnios-in-the-setting-of-renal-malformations-the-national-institutes-of-health-workshop-summary
#14
Marva Moxey-Mims, Tonse N K Raju
Anhydramnios in the setting of severe malformations of the fetal kidney and urinary tract is associated with a high incidence of stillbirths and life-threatening complications, including severe pulmonary hypoplasia, umbilical cord compression, and perinatal asphyxia. To prevent such adverse outcomes, some centers in the United States and elsewhere are offering amniotic fluid restoration for women diagnosed with anhydramnios in the setting of fetal renal malformations. The procedures include infusions of amniotic fluid substitutes (normal saline), percutaneously or through an amnioport-an implanted system for serial or continuous infusion of normal saline to maintain the desired amniotic fluid volume...
June 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29704261/further-evidence-for-causation-of-ischiospinal-dysostosis-by-a-pathogenic-variant-in-bmper-and-expansion-of-the-phenotype
#15
Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta M Girisha
No abstract text is available yet for this article.
April 27, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29542224/hyperactivation-of-nrf2-leads-to-hypoplasia-of-bone-in-vivo
#16
Eiki Yoshida, Takafumi Suzuki, Masanobu Morita, Keiko Taguchi, Kohei Tsuchida, Hozumi Motohashi, Minoru Doita, Masayuki Yamamoto
Keap1 is a negative regulator of Nrf2, a master transcription factor that regulates cytoprotection against oxidative and electrophilic stresses. Although several studies have suggested that the Keap1-Nrf2 system contributes to bone formation besides the maintenance of redox homeostasis, how Nrf2 hyperactivation by Keap1 deficiency affects the bone formation remains to be explored, as the Keap1-null mice are juvenile lethal. To overcome this problem, we used viable Keap1-deficient mice that we have generated by deleting the esophageal Nrf2 in Keap1-null mice (NEKO mice)...
May 2018: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/29527097/clinical-and-genetic-aspects-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#17
REVIEW
Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
https://www.readbyqxmd.com/read/29509141/-fanconi-bickel-syndrom-a-novel-genetic-disease-in-original-braunvieh
#18
S Joller, M Stettler, I Locher, M Dettwiler, F Seefried, M Meylan, C Drögemüller
This case report describes a new genetic disease of the Braunvieh breed in Switzerland. The bovine disorder also occurs in German Fleckvieh, and corresponds to human Fanconi-Bickel syndrome which is an inherited glycogen storage disease caused by mutations of the SLC2A2 gene encoding the glucose transporter GLUT2. This case report describes a single affected Original Braunvieh calf genotyped as homozygous for the FH2-associated SLC2A2 frame shift mutation. The clinical examination showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality...
March 2018: Schweizer Archiv Für Tierheilkunde
https://www.readbyqxmd.com/read/29456362/joubert-syndrome-with-orofacial-digital-features
#19
Parveen Bhardwaj, Minoo Sharma, Karan Ahluwalia
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, may be present, as well as mental retardation. Since the clinical findings of JS are quite heterogeneous, determination of radiological findings is essential.
January 2018: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/29444170/genotypic-and-phenotypic-characterization-of-the-sdccag8tn-sb-tyr-2161b-ca1c2ove-mouse-model
#20
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
keyword
keyword
164571
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"