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https://www.readbyqxmd.com/read/28743099/laparoscopic-surgery-for-colon-cancer-with-intestinal-malrotation-in-adults-two-case-reports-and-review-of-literatures-in-japan
#1
Kazuyoshi Nakatani, Katsuji Tokuhara, Tatsuma Sakaguchi, Kazuhiko Yoshioka, Masanori Kon
INTRODUCTION: Intestinal malrotation is a congenital anomaly, and its occurrence in adults is rare. Colon cancer with intestinal malrotation is far more rare. We herein report two cases of colon cancer with intestinal malrotation treated with laparoscopic surgery and reviewed the literatures in Japan. PRESENTATION OF CASES: Case 1 involved a 78-year-old man. Abdominal enhanced computed tomography (CT) showed that the tumor was located in the sigmoid colon. Intraoperatively, the cecum and ascending colon were located along the midline and the small intestine occupied the right side of the abdomen...
July 13, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28742603/strengths-limitations-and-geographical-discrepancies-in-the-eligibility-criteria-for-sport-participation-in-young-patients-with-congenital-heart-disease
#2
Massimiliano Cantinotti, Raffaele Giordano, Nadia Assanta, Bruno Murzi, Manuel Melo, Eliana Franchi, Maura Crocetti, Giorgio Iervasi, Shelby Kutty
OBJECTIVE: Benefits of physical activity has been shown in children with congenital heart disease (CHD). In several forms of CHD, the risk of sudden death remains a major concern both for parents and clinicians, who in turn will have to consider the risk-benefit ratio of sport participation versus restriction. DATA SOURCE: A literature search was performed within the National Library of Medicine using the keywords: Sport, CHD, and Eligibility. The search was further refined by adding the keywords: Children, Adult, and Criteria...
July 21, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28742524/early-postnatal-echocardiographic-assessment-of-pulmonary-blood-flow-in-newborns-with-congenital-diaphragmatic-hernia
#3
Florian Kipfmueller, Katrin Heindel, Lukas Schroeder, Christoph Berg, Oliver Dewald, Heiko Reutter, Peter Bartmann, Andreas Mueller
OBJECTIVE: Echocardiography is the most important tool to assess infants with congenital diaphragmatic hernia (CDH) for pulmonary hypertension (PH). The pattern of blood flow in the pulmonary artery [described as time to peak velocity (TPV)/right ventricular ejection time (RVET) ratio] provides distinct information about pulmonary arterial pressure. The aim of our study was to investigate the correlation of TPV/RVET measurements with the most commonly used classification system for PH in CDH newborns and the association of these measurements with outcome parameters...
July 25, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28742514/the-importance-of-biochemical-and-genetic-findings-in-the-diagnosis-of-atypical-norrie-disease
#4
Ana Rodríguez-Muñoz, Gema García-García, Francisco Menor, José M Millán, Miguel Tomás-Vila, Teresa Jaijo
BACKGROUND: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease pseudoglioma (NDP) gene, which encodes a 133-amino acid protein called norrin. Intragenic deletions including NDP and adjacent genes have been identified in ND patients with a more severe neurologic phenotype. We report the biochemical, molecular, clinical and radiological features of two unrelated affected males with a deletion including NDP and MAO genes...
July 25, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28742510/congenital-nephrogenic-diabetes-insipidus-in-the-corpus-hippocraticum-the-first-description
#5
Gregory Tsoucalas, Marianna Karamanou
No abstract text is available yet for this article.
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28742285/variable-expressivity-and-incomplete-penetrance-in-a-large-family-with-non-classical-diamond-blackfan-anemia-associated-with-ribosomal-protein-l11-splicing-variant
#6
Colleen M Carlston, Zeinab A Afify, Janice C Palumbos, Heidi Bagley, Carlos Barbagelata, Whitney L Wooderchak-Donahue, Rong Mao, John C Carey
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized by early-onset bone marrow failure often accompanied by congenital malformations, especially thumb defects...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742269/unilateral-lung-agenesis-aplasia-or-hypoplasia-which-one-is-it
#7
Khristopher M Nguyen, Snehal Vala, Sarah Milla, Lokesh Guglani
Congenital lung malformations can lead to symptoms in the immediate newborn period or early childhood, but may also be diagnosed incidentally on routine imaging or autopsy, especially if the individual has remained asymptomatic. We report a case where incidental detection of abnormal intrathoracic structures led to a different diagnosis while being evaluated for scoliosis.
July 25, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28742265/congenital-disorders-of-glycosylation-the-saudi-experience
#8
Sarah Alsubhi, Amal Alhashem, Eissa Faqeih, Majid Alfadhel, Abdullah Alfaifi, Waleed Altuwaijri, Saud Alsahli, Hesham Aldhalaan, Fowzan S Alkuraya, Khalid Hundallah, Adel Mahmoud, Ali Alasmari, Fuad Al Mutairi, Hanem Abduraouf, Layan AlRasheed, Saad Alshahwan, Brahim Tabarki
We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). All the patients had homozygous gene mutations. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742244/novel-prps1-gain-of-function-mutation-in-a-patient-with-congenital-hyperuricemia-and-facial-anomalies
#9
Joseph Porrmann, Elitza Betcheva-Krajcir, Nataliya Di Donato, Anne-Karin Kahlert, Jens Schallner, Andreas Rump, Evelin Schröck, Doreen Dobritzsch, Jeroen Roelofsen, André B P van Kuilenburg, Andreas Tzschach
Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain-of-function mutations in the X-chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain-of-function mutations have been reported to date...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28742214/association-of-combined-gif290t-c-heterozygous-mutation-fut2-secretor-variant-with-neural-tube-defects
#10
R M Guéant-Rodriguez, C Chery, B-M Fofou-Caillierez, J Voirin, B Foliguet, T Josse, D Tramoy, F François, J-L Guéant
Folate and vitamin B12 are needed for the proper embryo-fetal development possibly through their interacting role in the one-carbon metabolism. Folate fortification reduces the prevalence of complex birth defects, and more specifically neural tube defects (NTD). GIF and FUT2 are two genes associated with the uptake and blood level of vitamin B12. We evaluated GIF and FUT2 as predictors of severe birth defects, in 181 aborted fetuses compared to 375 healthy newborns. The GIF290C allele frequency was estimated to 0...
July 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28742085/clinically-severe-cacna1a-alleles-affect-synaptic-function-and-neurodegeneration-differentially
#11
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler
Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes. Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function. Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p...
July 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28741863/development-of-quality-metrics-for-ambulatory-pediatric-cardiology-infection-prevention
#12
Jonathan N Johnson, Cindy S Barrett, Wayne H Franklin, Eric M Graham, Nancy J Halnon, Brandy A Hattendorf, Catherine D Krawczeski, James J McGovern, Matthew J O'Connor, Amy H Schultz, Jeffrey M Vinocur, Devyani Chowdhury, Jeffrey B Anderson
INTRODUCTION: In 2012, the American College of Cardiology's (ACC) Adult Congenital and Pediatric Cardiology Council established a program to develop quality metrics to guide ambulatory practices for pediatric cardiology. The council chose five areas on which to focus their efforts; chest pain, Kawasaki Disease, tetralogy of Fallot, transposition of the great arteries after arterial switch, and infection prevention. Here, we sought to describe the process, evaluation, and results of the Infection Prevention Committee's metric design process...
July 25, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28741727/placental-pericytes-and-cytomegalovirus-infectivity-implications-for-hcmv-placental-pathology-and-congenital-disease
#13
David M Aronoff, Hernan Correa, Lisa M Rogers, Ravit Arav-Boger, Donald J Alcendor
PROBLEM: Placental pericytes are essential for placental microvascular function, stability, and integrity. Mechanisms of human cytomegalovirus (HCMV) pathogenesis incorporating placental pericytes are unknown. METHOD OF STUDY: HCMV-infected placental tissue was stained by dual-labeled immunohistochemistry. Primary placental pericytes, cytotrophoblasts, and villous fibroblasts were exposed to HCMV; and infectivity was analyzed by microscopy and immunofluorescence...
July 25, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28741709/prenatal-diagnosis-of-dural-sinus-malformation-in-a-fetus-presenting-with-general-oedema
#14
Michal Lipa, Przemyslaw Kosinski, Ritsuko K Pooh, Miroslaw Wielgos
Dural sinus malformation (DSM) is an extremely rare, congenital dilatation of the dural sinus pouch. DSM cases associated with arteriovenous shunt (AV shunt) usually have a poor pregnancy outcome due to an excessive hemodynamic load and progressive cardiac failure.
July 25, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#15
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28740679/three-dimensional-printing-guided-precise-surgery-for-right-sided-aortic-arch-associated-with-kommerell-s-diverticulum
#16
Nan Chen, Kai Zhu, Hongqiang Zhang, Xiaoning Sun, Chunsheng Wang
Right-sided aortic arch associated with Kommerell's diverticulum is a rare congenital defect of aorta with complexity. The challenging surgical treatment calls for a direct and entire visibility of aorta and its branches which can be provided by the three-dimensional (3D) printing technique. A 42-year-old man with right-sided aortic arch, Kommerell's diverticulum and an aberrant left subclavian artery underwent the surgery with the guiding assistance of 3D printed model. The satisfying outcome suggests the novel combination of 3D printing technique and surgical procedure a promising perspective on treating complex aortic defect...
June 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28740509/multiple-bony-injuries-on-bone-scan-in-a-case-of-unsuspected-child-abuse
#17
Ya-Wen Chuang, Chien-Chin Hsu, Chin-Chuan Chang, Chia-Yang Lin, Hsiu-Lan Chu, Ying-Fong Huang, Yu-Chang Tyan
This case is described of an eleven-month-old infant with lower limbs swelling and the left elbow skeletal malformation following a fall. The radionuclide bone scan was performed to exclude bone infection or congenital skeletal anomaly. The images unexpectedly showed multiple increased radioactive foci throughout the whole body. It was a strong probability of child abuse. All lesions are readily apparent on the following plain film radiographs and MRI.
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28740482/both-low-blood-glucose-and-insufficient-treatment-confer-risk-of-neurodevelopmental-impairment-in-congenital-hyperinsulinism-a-multinational-cohort-study
#18
Annett Helleskov, Maria Melikyan, Evgenia Globa, Inna Shcherderkina, Fani Poertner, Anna-Maria Larsen, Karen Filipsen, Klaus Brusgaard, Charlotte Dahl Christiansen, Lars Kjaersgaard Hansen, Henrik T Christesen
BACKGROUND/AIMS: Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later onset, variable severity, and with focal or diffuse pancreatic involvement as the two major histological types. CHI confers a high risk of neurological impairment; however, sparsely studied in larger patient series. We assessed the neurodevelopmental outcome in children with CHI at follow-up in a mixed international cohort...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28740468/evolution-of-precision-medicine-and-surgical-strategies-for-bicuspid-aortic-valve-associated-aortopathy
#19
Ali Fatehi Hassanabad, Alex J Barker, David Guzzardi, Michael Markl, Chris Malaisrie, Patrick M McCarthy, Paul W M Fedak
Bicuspid aortic valve (BAV) is a common congenital cardiac malformation affecting 1-2% of people. BAV results from fusion of two adjacent aortic valve cusps, and is associated with dilatation of the aorta, known as bicuspid valve associated aortopathy. Bicuspid valve aortopathy is progressive and associated with catastrophic clinical events, such as aortic dissection and rupture. Therefore, frequent monitoring and early intervention with prophylactic surgical resection of the proximal aorta is often recommended...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28740400/multidisciplinary-care-of-craniosynostosis
#20
REVIEW
Edward P Buchanan, Yunfeng Xue, Amy S Xue, Asaf Olshinka, Sandi Lam
The management of craniosynostosis, especially in the setting of craniofacial syndromes, is ideally done in a multidisciplinary clinic with a team focused toward comprehensive care. Craniosynostosis is a congenital disorder of the cranium, caused by the premature fusion of one or more cranial sutures. This fusion results in abnormal cranial growth due to the inability of the involved sutures to accommodate the growing brain. Skull growth occurs only at the patent sutures, resulting in an abnormal head shape...
2017: Journal of Multidisciplinary Healthcare
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