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renal agenesis

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https://www.readbyqxmd.com/read/29775450/-congenital-megacalycosis-in-a-girl-with-unilateral-renal-agenesis
#1
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/29774817/bladder-reconstruction-with-bowel-robot-assisted-laparoscopic-ileocystoplasty-with-mitrofanoff-appendicovesicostomy-in-pediatric-patients
#2
Nimrod S Barashi, Maria Veronica Rodriguez, Vignesh T Packiam, Mohan S Gundeti
Neurogenic bladder occur as a consequence of several conditions, most commonly posterior urethral valves syndrome, spina bifida, tethered cord, sacral agenesis, and Arnold-Chiari malformation. It is characterized by diminished bladder capacity and/or reduced compliance, associated with high-pressure voiding that can lead to deterioration of renal function if left untreated. When medical management fails, bladder reconstruction with bowel (aumentation ileocystoplasty) becomes the treatment of choice for these patients...
May 2018: Journal of Endourology
https://www.readbyqxmd.com/read/29771971/constitutive-metanephric-mesenchyme-specific-expression-of-interferon-gamma-causes-renal-dysplasia-by-regulating-sall1-expression
#3
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/29734759/trends-in-the-prevalences-of-selected-birth-defects-in-korea-2008%C3%A2-2014
#4
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/29732138/a-rare-presentation-of-acute-appendicitis-in-right-upper-quadrant-caused-by-renal-agenesis
#5
Han N Beh, Yuni F Ongso
Diagnosing acute abdominal pain will always be a challenging task, patients frequently present with atypical symptoms. It is crucial for a clinician to have good differential diagnosis to avoid delay in diagnosis and treatment. We present 37-year-old male who presented to emergency department with 2 days of abdominal pain. The pain started centrally around his umbilicus and localized to his right upper quadrant (RUQ). Clinical examination showed he has localized peritonitism on the RUQ hence he was further investigated with CT abdomen...
April 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29707395/fetal-sirenomelia-associated-with-an-abdominal-cyst-originating-from-a-saccular-cloaca
#6
Yui Kinjo, Hitoshi Masamoto, Hayase Nitta, Tadatsugu Kinjo, Tomoko Tamaki, Naoki Yoshimi, Yoichi Aoki
A 40-year-old pregnant woman presented with a fetal abdominal cyst and oligohydramnios. Color Doppler scan revealed a single blood vessel from the fetal aorta into a single umbilical artery. Severe oligohydramnios limited ultrasonographic evaluation of the fetal lower limbs, kidneys, or bladder. The pregnancy was terminated; the fetus showed fused lower limbs, bulging abdomen, and absent external genitalia and was diagnosed with type III sirenomelia. On autopsy, no normal bladder was observed, but duodenal atresia, anorectal atresia, and right renal agenesis were found...
2018: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29704304/loss-of-function-ift27-variants-associated-with-an-unclassified-lethal-fetal-ciliopathy-with-renal-agenesis
#7
Chloé Quélin, Philippe Loget, Lucile Boutaud, Nadia Elkhartoufi, Joelle Milon, Sylvie Odent, Mélanie Fradin, Florence Demurger, Laurent Pasquier, Sophie Thomas, Tania Attié-Bitach
Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c...
April 27, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29688405/a-homozygous-mutation-p-arg2167trp-in-frem2-causes-isolated-cryptophthalmos
#8
Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie
Cryptophthalmos (CO, MIM: 123570) is rare congenital anomalies of eyelid formation, which can occur alone or in combination with multiple congenital anomalies as part of Fraser syndrome (FS) or Manitoba Oculotrichoanal (MOTA) syndrome. Causal mutations have been identified for these syndromes but not in the isolated cases. Here, we described two patients from two unrelated Chinese families: one with unilateral isolated CO, while the other with unilateral CO and renal agenesis. A novel homozygous mutation (c...
April 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29669767/haematometrocolpos-and-acute-pelvic-pain-associated-with-cyclic-uterine-bleeding-ohvira-syndrome
#9
Mayank Aranke, Kim Long Nguyen, Richard D Wagner, Robert P Kauffman
Obstructed hemivagina and ipsilateral renal agenesis syndrome is a complex urogenital malformation usually presenting with obstructed menses and pelvic pain during female adolescence. The diagnosis can be established preoperatively with relative certainty by MRI or ultrasonography, and outcomes are usually satisfactory following surgical resection of the septal portion of the obstructed hemivagina. Such cases are best managed in referral centres with expertise in anatomical disorders of the female genital tract...
April 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29588919/laparoscopic-surgery-for-seminal-vesicle-cysts-and-ureterocele-with-urination-disorder-a-case-report-of-zinner-syndrome
#10
Takeshi Maehana, Fumimasa Fukuta, Ko Kobayashi, Megumi Hirobe, Toshiaki Tanaka, Naoya Masumori
Background: Zinner syndrome is defined as seminal vesicle cysts with ipsilateral renal agenesis and an ectopic ureter. Symptomatic cases are very rare. In this article, we present a laparoscopic approach for a case of Zinner syndrome. Case Presentation: The patient was a 21-year-old male with difficult urination. A right seminal vesicle cyst and right kidney agenesis associated with ureterocele were found on examination and he was diagnosed with Zinner syndrome. First, we performed transperineal puncture of the ureterocele because it closed the bladder neck during voiding...
2018: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/29557611/renal-manifestations-in-children-with-alagille-syndrome
#11
Diana Di Pinto, Marta Adragna
INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. OBJECTIVES: To describe the prevalence, type and outcome of renal pathology in children with AS. PATIENTS AND METHODS: The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. RESULTS: Renal pathology was observed in 18 patients (85...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29530019/multiple-midline-defects-identified-in-a-litter-of-golden-retrievers-following-gestational-administration-of-prednisone-and-doxycycline-a-case-series
#12
Joanna L Kaplan, Catherine T Gunther-Harrington, Jessie S Sutton, Joshua A Stern
BACKGROUND: The teratogenic effects of immunomodulatory and certain antimicrobial therapies are described in small rodents and humans. While the described teratogenic effects in small rodents have been extrapolated to make conclusions about its use in the pregnant dam, teratogenic effects of prednisone and doxycycline have not yet been reported in the dog. Here we report and describe midline defects observed in a litter of golden retriever puppies exposed to mid-gestational immunosuppressive and antimicrobial therapy...
March 12, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29527097/clinical-and-genetic-aspects-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#13
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/29525113/unilateral-renal-agenesis-and-abrupt-onset-diabetes-an-unfrequent-form-of-mody-type-diabetes
#14
María Del Mar Roca-Rodríguez, María Carmen Ayala-Ortega, Ana Isabel Jiménez-Millán, María Concepción García Calzado, María Soledad Ruiz de Adana, Florentino Carral-San Laureano
INTRODUCTION: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the increase in obesity and family history of diabetes in the general population. PATIENTS AND METHODS: We present a clinical case with cardinal symptoms, diabetes,renal insufficiency with no acidosis and with a family history of diabetes and renal agenesis. RESULTS: Distinguishing MODY diabetes from DM1 and DM2 is very important to ensure optimal treatment, and because the risk of complications depends on each genetic defect...
March 7, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29489657/agenesis-of-the-dorsal-pancreas-a-rare-cause-of-insulin-dependent-diabetes-without-abdominal-pain-case-report
#15
Kaiyong Liang, Xiaojuan Ou, Xukai Huang, Qunfang Lan
RATIONALE: Agenesis of the dorsal pancreas is a very rare condition with an unknown pathology and etiology, although it may be associated with autosomal dominant or X-linked dominant inheritance or retinoic acid and hedgehog signaling pathway alterations. This condition usually manifests with abdominal pain or pancreatitis, although some cases are asymptomatic. Approximately 50% of affected patients with this disorder present with hyperglycemia or various other anomalies. PATIENT CONCERNS: We report the case of a 23-year-old Chinese woman who visited the Department of Endocrinology and Metabolism with insulin-dependent diabetes but no specific symptoms, signs, or other deformities...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29487639/complete-dorsal-pancreatic-agenesis-and-unilateral-renal-agenesis
#16
Adriana Moreira, André Carvalho, Inês Portugal, José Miguel Jesus
Dorsal pancreatic agenesis is a very rare congenital anomaly. Unilateral renal agenesis, on the other hand, is a relatively common congenital anomaly, although its etiology is not fully understood. Renal and pancreatic embryologic development appears to be nonrelated. We report a case of a 34-year-old man who was referred to our hospital for evaluation of cholestasis and microalbuminuria. Ultrasound and magnetic resonance imaging examinations showed empty right renal fossa and absence of the pancreatic neck, body, and tail...
February 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29484681/comorbidity-of-the-congenital-absence-of-the-vas-deferens
#17
E C Akinsal, N Baydilli, M E Dogan, O Ekmekcioglu
Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to emphasise some pathological conditions that may be detected during the infertility work-up or follow-up of these patients. The charts of 150 males with the diagnosis of CAVD were evaluated retrospectively. The demographic characteristics, reasons for attendance, the way of diagnosis, interventions for infertility before and after attendance, physical examination findings, reproductive hormone levels, semen analysis results, genetical analysis results and resultant live birth events were all included in the study...
February 27, 2018: Andrologia
https://www.readbyqxmd.com/read/29483821/disruption-of-gen1-causes-congenital-anomalies-of-the-kidney-and-urinary-tract-in-mice
#18
Herui Wang, Chi Zhang, Xiaowen Wang, Yaru Lian, Bin Guo, Miao Han, Xiaoe Zhang, Xiaoting Zhu, Sixian Xu, Zengli Guo, Yunli Bi, Qian Shen, Xiang Wang, Jiaojiao Liu, Yuan Zhuang, Ting Ni, Hong Xu, Xiaohui Wu
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci ( HNF1B , PAX2 , EYA1 , etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene Gen1 leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. GEN1 interacts with SIX1 and enhances the transcriptional activity of SIX1/EYA1, a key regulatory complex of the GDNF morphogen...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29482560/3d-marker-controlled-watershed-for-kidney-segmentation-in-clinical-ct-exams
#19
Wojciech Wieclawek
BACKGROUND: Image segmentation is an essential and non trivial task in computer vision and medical image analysis. Computed tomography (CT) is one of the most accessible medical examination techniques to visualize the interior of a patient's body. Among different computer-aided diagnostic systems, the applications dedicated to kidney segmentation represent a relatively small group. In addition, literature solutions are verified on relatively small databases. The goal of this research is to develop a novel algorithm for fully automated kidney segmentation...
February 27, 2018: Biomedical Engineering Online
https://www.readbyqxmd.com/read/29467581/tetrasomy-18p-case-report-and-review-of-literature
#20
Shahad Bawazeer, Maha Alshalan, Aziza Alkhaldi, Nasser AlAtwi, Mohammed AlBalwi, Abdulrahman Alswaid, Majid Alfadhel
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations...
2018: Application of Clinical Genetics
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