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congenital renal

Jayson Lian, Nicole Levine, Woojin Cho
PURPOSE: To review the current literature on methods of accurate numeration of vertebral segments in patients with Lumbosacral transitional vertebrae (LSTVs). LSTVs are a common congenital anomaly of the L5-S1 junction. While their clinical significance has been debated, unquestionable is the need for their identification prior to spinal surgery. We hypothesize that there are no reliable landmarks by which we can accurately number transitional vertebrae, and thus a full spinal radiograph is required...
March 21, 2018: European Spine Journal
Melanie Laura Lawrence, James R Smith, Jamie Andrew Davies
The mesonephros of mammals is a transient renal structure that contributes to various aspects of mammalian fetal development including the male reproductive system, hematopoietic stem cells and vascular endothelial cells. The mesonephros develops from the intermediate mesoderm and forms tubules that are segmented in a similar way to the nephrons of the permanent kidney (but lacking loops of Henle). Early studies have suggested that the mesonephros in marsupials and some placental mammals may perform an excretory function, but these studies have not directly shown active transport of organic anions and cations...
March 21, 2018: American Journal of Physiology. Renal Physiology
Pablo Roa Rojas, Hernán Arango Fernández, Martha Rebolledo Cobos, Jonathan Harris Ricardo
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia...
April 1, 2018: Archivos Argentinos de Pediatría
Yi Shi, Yanhui Su, Joshua H Lipschutz, Glenn P Lobo
Cilia are highly-conserved organelles projecting from the cell surface of nearly every cell type in vertebrates. Ciliary proteins have essential functions in human physiology, particularly in signaling and organ development. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that characteristically include, retinal degeneration, renal disease and cerebral anomalies. The terminology "Ciliopathies" refers to inherited human disorders caused by genetic mutations in ciliary genes, leading to cilia dysfunctions that form an important and ever expanding multi-organ disease spectrum...
December 2017: Clin Nephrol Res
Dorit Schöller, Marieke Hölting, Diana Stefanescu, Helen Burow, Birgitt Schönfisch, Katharina Rall, Florin-Andrei Taran, Grigoris F Grimbizis, Attilio Di Spiezio Sardo, Sara Y Brucker
PURPOSE: Several classification systems for female genital tract anomalies exist but are of limited use in clinical practice. We, therefore, assessed the applicability and ease of use of the new ESHRE/ESGE classification, using only patient records. METHODS: This retrospective, single-center, proof-of-principle study systematically analyzed the surgical reports and other hospital records of 920 inpatients and outpatients treated for confirmed female genital tract congenital malformations at a major German university hospital during 2003-2013...
March 16, 2018: Archives of Gynecology and Obstetrics
Manuela Germeshausen, Phil Ancliff, Jaime Estrada, Markus Metzler, Eva Ponstingl, Horst Rütschle, Dirk Schwabe, Richard H Scott, Sule Unal, Angela Wawer, Bernward Zeller, Matthias Ballmaier
Heterozygous mutations in MECOM (MDS1 and EVI1 complex locus) have been reported to be causative of a rare association of congenital amegakaryocytic thrombocytopenia and radioulnar synostosis. Here we report on 12 patients with congenital hypomegakaryocytic thrombocytopenia caused by MECOM mutations (including 10 novel mutations). The mutations affected different functional domains of the EVI1 protein. The spectrum of phenotypes was much broader than initially reported for the first 3 patients; we found familial as well as sporadic cases, and the clinical spectrum ranged from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormality...
March 27, 2018: Blood Advances
Karen L Price, Maria Kolatsi-Joannou, Chiara Mari, David A Long, Paul J D Winyard
Kidney function is directly linked to the number of nephrons which are generated until 32-36 weeks gestation in humans. Failure to make nephrons during development leads to congenital renal malformations, whilst nephron loss in adulthood occurs in progressive renal disease. Therefore, an understanding of the molecular processes which underlie human nephron development may help design new treatments for renal disease. Mesenchyme to epithelial transition (MET) is critical for forming nephrons, and molecular pathways which control rodent MET have been identified...
December 2018: Cell Death Discovery
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
Ran Nagar, Sharon Perlman, Or Yariv, Zvi Kivilevich, Benjamin Dekel, Reuven Achiron, Yinon Gilboa
BACKGROUND: Sonographic assessment of the fetal kidneys is an integral part of the prenatal anatomical survey. OBJECTIVES: To evaluate the fetal renal to abdominal (RTA) ratio throughout pregnancy and to investigate whether this ratio can be a potential diagnostic landmark for congenital anomalies of the kidney and urinary tract (CAKUT). METHODS: Measurements of the anterior-posterior diameters of the fetal kidney and fetal abdomen (APAD) were obtained prospectively...
March 2018: Israel Medical Association Journal: IMAJ
Vasiliki V Georgiopoulou, Arash Velayati, Greg Burkman, Song Li, Kanwal Farooq, Ayman Samman-Tahhan, Lampros Papadimitriou, Javed Butler, Andreas P Kalogeropoulos
Patients with heart failure and preserved ejection fraction (HFpEF) tend to be older and have a high co-morbidity burden. The impact of co-morbid conditions and sociodemographic risk factors on outcomes in these patients has not been quantified. We evaluated 445 consecutive outpatients with HFpEF, defined as established diagnosis of heart failure (HF) with left ventricular ejection fraction at presentation >40% and no previous left ventricular ejection fraction ≤40%. Patients with specific cardiomyopathies, congenital heart disease, primary right-sided disease, valvular disease, or previous advanced HF therapies were excluded...
February 12, 2018: American Journal of Cardiology
Ahmed Mohey, Mohamed Alhefnawy, Mostafa Mahmoud, Rabea Gomaa, Tarek Soliman, Shabieb Ahmed, Yasser A Noureldin
INTRODUCTION: To assess the conversion rate during fluoroless-ureteroscopy (URS) and evaluate the feasibility, safety, and efficacy of fluoroless-URS as a definitive management of distal ureteral calculi. MATERIAL AND METHODS: Between May 2013 and August 2015, patients with radio-opaque distal ureteral calculi of ≤ 1 cm in size were randomized to undergo fluoroless-URS or standard URS. Patients with previous ureteral surgery, ureteral kinking, ureteral stricture, single kidney, additional proximal ureteral or renal calculi, uncontrolled coagulopathy, and/or congenital anomalies of the urinary tract were excluded...
February 2018: Canadian Journal of Urology
Espérance Moine, Nathalie Moiré, Isabelle Dimier-Poisson, Kévin Brunet, William Couet, Cyril Colas, Nathalie Van Langendonck, Cécile Enguehard-Gueiffier, Alain Gueiffier, Bruno Héraut, Caroline Denevault-Sabourin, Françoise Debierre-Grockiego
The current therapeutic arsenal for toxoplasmosis is restricted to drugs non-specific to the parasite which cause important side effects. Development of more efficient and specific anti-Toxoplasma compounds is urgently needed. Imidazo[1,2-b]pyridazines designed to inhibit the calcium-dependent protein kinase 1 of Toxoplasma gondii (TgCDPK1) and effective against tachyzoite growth in vitro at submicromolar ranges were modified into hydrochloride salts to be administered in vivo in a mouse model of acute toxoplasmosis...
March 7, 2018: International Journal for Parasitology
Ali Mohtashami, Andrew Kiat, Jane Cross, Robert Simon, Austin Curtin
INTRODUCTION: Abernethy malformations are extremely rare congenital anomalous portosystemic shunts. We report the case of a patient with a rare variant Abernethy malformation between the superior mesenteric vein and left renal vein, associated with a massive jejunal diverticulum. PRESENTATION OF CASE: A 37-year-old Caucasian female presented to our emergency department with severe abdominal pain and proceeded to laparotomy for a presumed small bowel obstruction...
February 27, 2018: International Journal of Surgery Case Reports
Stiljan Hoxha, Riccardo Giuseppe Abbasciano, Camilla Sandrini, Lucia Rossetti, Tiziano Menon, Luca Barozzi, Daniele Linardi, Alessio Rungatscher, Giuseppe Faggian, Giovanni Battista Luciani
Aortic arch repair in newborns and infants has traditionally been accomplished using a period of deep hypothermic circulatory arrest. To reduce neurologic and cardiac dysfunction related to circulatory arrest and myocardial ischemia during complex aortic arch surgery, an alternative and novel strategy for cerebro-myocardial protection was recently developed, where regional low-flow perfusion is combined with controlled and independent coronary perfusion. The aim of the present retrospective study was to assess short-term and mid-term results of selective and independent cerebro-myocardial perfusion in neonatal aortic arch surgery...
March 6, 2018: Artificial Organs
Brittani Jones, Allyson C Berent, Chick W Weisse, Robert Hart, Leilani Alvarez, Anthony Fischetti, B David Horn, Douglas Canning
CASE DESCRIPTION A 14-week-old 7.7-kg (16.9-lb) sexually intact female Golden Retriever was evaluated because of urine dripping from the caudoventral aspect of the abdomen. CLINICAL FINDINGS Ultrasonography, radiography, excretory CT urography, and vaginocystourethroscopy were performed. Results indicated eversion of the bladder through the ventral abdominal wall with exposure of the ureterovesicular junctions, pubic diastasis, and an open vulva and clitoral fossa. Clinical findings were suggestive of bladder exstrophy, a rare congenital anomaly...
March 15, 2018: Journal of the American Veterinary Medical Association
Cosimo Bleve, Valeria Bucci, Maria Luisa Conighi, Francesco Battaglino, Lorenzo Costa, Lorella Fasoli, Elisa Zolpi, Salvatore Fabio Chiarenza
Horseshoe kidney (HSK) is a congenital defect of the urinary tract that occurs in 0.25% of the general population. Laparoscopic Vascular Hitch (LVH) according to Hellstrom-Chapman represent an alternative approach in treatment of extrinsic hydronephrosis by crossing vessels (CV) in pediatric age. In our Department from 2006 to 2016, 36 children with extrinsic-Uretero-Pelvic-Junction (UPJ)-Obstruction (UPJO) underwent laparoscopic vessels transposition. Over the last 4years, we have treated three patients with extrinsic hydronephrosis in HSK; two males and one female respectively of 6, 7 and 8years...
December 13, 2017: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
Esam A E Desoky, Ahmed M Eliwa, Amr M Fawzi, Ahmed M Sakr, Aref M Maarouf, Ashraf S Shahin, Khalid M Abdelwahab, Maged M Ali, Hossam Abdelrahman, Fatma Zaiton
OBJECTIVES: To compare the distance between the colon and the trajectory of PCNL access both in prone and FFMS positions as measured on CT and to study the effect of age, gender, BMI, side and previous renal surgery as influencing factors. METHODS: In this prospective study, we included 367 patients scheduled for PCNL. All patients underwent low dose abdominal CT both in prone and FFMS positions. Patients<18 years and those with previous colonic surgery and/or renal congenital anomalies were excluded...
February 28, 2018: Urology
Anilawan Smitthimedhin, Angela Suarez, Ryan L Webb, Hansel J Otero
Intestinal malrotation is a continuum of congenital anomalies due to lack of rotation or incomplete rotation of the fetal intestine around the superior mesenteric artery axis. The abnormal bowel fixation (by mesenteric bands) or absence of fixation of portions of the bowel increases the risk of bowel obstruction, acute or chronic volvulus, and bowel necrosis. The clinical presentation of patients with malrotation without, with intermittent, or with chronic volvulus can be problematic, with an important minority presenting late or having atypical or chronic symptoms, such as intermittent vomiting, abdominal pain, duodenal obstruction, or failure to thrive...
March 3, 2018: Abdominal Radiology
Lucia Maria Costa Monteiro, Glaura Nisya de Oliveira Cruz, Juliana Marin Fontes, Tania Regina Dias Saad Salles, Marcia Cristina Bastos Boechat, Ana Carolina Monteiro, Maria Elizabeth Lopes Moreira
INTRODUCTION: Congenital Zika Syndrome (CZS) has been associated with microcephaly and other central nervous system abnormalities including areas that have been implicated in the control of the lower urinary tract. As such, this descriptive case series has aimed to investigate whether CZS is linked with neurogenic bladder. Identifying such an association is paramount in the effort to recognize CZS complications that have putative treatment options that could mitigate the impact of CZS in infected children...
2018: PloS One
Mohan John, Leonard L Bailey
Neonatal heart transplantation was developed and established in the 1980's as a durable modality of therapy for complex-uncorrectable heart disease. Patients transplanted in the neonatal period have experienced unparalleled long-term survival, better than for any other form of solid-organ transplantation. However, the limited availability of neonatal and young infant donors has restricted the indications and applicability of heart transplantation among newborns in the current era. Indications for heart transplantation include congenital heart disease not amenable to other forms of surgical palliation, and cardiomyopathy, including some primary tumors...
January 2018: Annals of Cardiothoracic Surgery
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