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https://www.readbyqxmd.com/read/28636141/binocular-facilitation-of-cone-specific-visual-evoked-potentials-in-colour-deficiency
#1
Jeff Rabin, Andrew Kryder, Dan Lam
BACKGROUND: Neural compensatory mechanisms have been proposed, which preserve the binocular visual field in glaucoma, as well as cognition in Alzheimer's disease and motor function in Parkinson's disease. It is conceivable that comparable mechanisms operate to preserve function in congenital and/or dystrophic disease. In hereditary colour vision deficiency (CVD), we observed significant facilitation in the amplitude of the binocular cone-specific visual evoked potential (VEP) compared to the monocular amplitude for the cone type corresponding to the CVD...
June 21, 2017: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#2
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28636059/clinical-outcome-and-complications-of-thoracic-and-pelvic-limb-stump-and-socket-prostheses
#3
Andrew Phillips, Elvin Kulendra, Edith Bishop, Michelle Monk, Kevin Parsons, Arthur House
OBJECTIVES: To describe the use, quality of life, compliance, complications, and outcome of animals fitted with stump socket prostheses. METHODS: Medical records of dogs fitted with a stump socket prosthesis were reviewed. Functional outcome, quality of life and complications were retrospectively assessed from an owner questionnaire. RESULTS: Thirteen stump socket prostheses (12 dogs) were fitted for a variety of reasons including trauma, congenital abnormalities, and neoplasia...
June 21, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28636057/symmetrical-brachydactyly-in-a-dog
#4
Megan T Cray, Ursula Krotscheck, Anthony J Fischetti, Kim Tong
Congenital malformations of the canine manus and pes are infrequently reported in the veterinary literature. This includes brachydactyly which is a general term used to indicate the shortening of digits due to abnormal development of the phalanges, metacarpals, or metatarsals. This case report describes isolated brachydactyly in a one-year-old male Maremma Sheepdog affecting all of the phalanges, metacarpals, and metatarsals of digits two through five. This condition was confirmed by determining the length of each phalanx, metacarpal, and metatarsal of the affected dog as well as an unaffected littermate...
June 21, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#5
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635575/-high-risk-obstetrics-in-tertiary-centres-anaesthetist-hybrid-operating-suite-and-obstetric-critical-care-unit
#6
C D van der Marel, A J Eggink, R J Stolker
The frequency of pregnancy-related morbidity has increased over recent decades, as has the number of patients with complex congenital cardiac anomalies reaching fertile age, resulting in an increasing number of high-risk pregnancies. In order to optimalise maternal and foetal outcome in these patients, not only is the availability of optimal in-hospital facilities (e.g. obstetric critical care unit, hybrid operating suite) important, but also a multidisciplinary approach which is mandatory for successful maternal and foetal outcome...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#7
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28634363/long-term-health-outcomes-in-patients-with-prader-willi-syndrome-a-nationwide-cohort-study-in-denmark
#8
E Hedgeman, S P Ulrichsen, S Carter, N C Kreher, K P Malobisky, M M Braun, J Fryzek, M S Olsen
BACKGROUND: Prader-Willi syndrome (PWS) is a rare congenital disease that affects growth, sexual development, cognitive function and behavior. Individuals exhibit food preoccupation and hyperphagia, which may lead to obesity with premature morbidity and mortality. The aim of this work was to evaluate the risk of venous thromboembolisms (VTE), myocardial infarction, pulmonary hypertension, sleep apnea, depression, anxiety and all-cause mortality among persons with PWS as compared to an age- and sex-matched general population cohort...
June 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28634271/development-of-the-thyroid-gland
#9
REVIEW
Mikael Nilsson, Henrik Fagman
Thyroid hormones are crucial for organismal development and homeostasis. In humans, untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism, which comprises irreversible brain dysfunction and dwarfism. Elucidating how the thyroid gland - the only source of thyroid hormones in the body - develops is thus key for understanding and treating thyroid dysgenesis, and for generating thyroid cells in vitro that might be used for cell-based therapies. Here, we review the principal mechanisms involved in thyroid organogenesis and functional differentiation, highlighting how the thyroid forerunner evolved from the endostyle in protochordates to the endocrine gland found in vertebrates...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28634025/impaired-cerebral-autoregulation-in-preoperative-newborn-infants-with-congenital-heart-disease
#10
Jodie K Votava-Smith, Christopher J Statile, Michael D Taylor, Eileen C King, Jesse M Pratt, David P Nelson, Erik C Michelfelder
OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633737/linear-verrucous-hemangioma-of-the-upper-limb-a-rare-case
#11
Thansiha Nargis, Malcolm Pinto, Satish Bhat, Manjunath Shenoy M
Verrucous hemangioma is a rare, congenital vascular malformation of the cutaneous and subcutaneous tissue. It is usually present at birth and gradually increases in size and number with age; occasionally it presents in later adulthood. It has a predilection for the lower extremity and usually presents as warty or hyperkeratotic, bluish and partly confluent papules and plaques. Verrucous hemangioma occurring in a linear pattern is an even more uncommon presentation and very few cases have been reported. We report a boy with verrucous hemangioma localized to the left upper extremity in a linear pattern...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633736/klippel-trenauney-syndrome-with-axillary-hyperhidrosis
#12
Yeun Jina Lim, David Rosmarin, Giannoula Klement, Shiu-Chung Au
Klippel-Trenaunay syndrome (KTS) is a rare, clinically variable congenital disorder involving capillary malformations, soft tissue or bone hypertrophy, and venous malformations or varicose veins. We report a 28-year-old man who presented with a hypertrophic right arm as well as markedly increased ipsilateral axillary hyperhidrosis and erythematous patches on the back, chest, and arm. This case of KTS is unusual because our patient presented with a markedly increased unilateral axillary hyperhidrosis ipsilateral to the hypertrophic limb...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633714/three-generation-family-with-congenital-central-hypoventilation-syndromeand-novel-phox2b-gene-non-polyalanine-repeat-mutation
#13
Ajay S Kasi, Taryn J Jurgensen, Stephanie Yen, Sheila S Kun, Thomas G Keens, Iris A Perez
PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to beassociated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individualspossessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an autosomal dominant pattern with variablepenetrance. The affected family members with CCHS have a milder phenotype than is typically expected with a NPARM...
June 16, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28633648/radiologic-comparison-of-posterior-release-internal-distraction-final-pso-and-spinal-fusion-with-one-stage-posterior-vertebral-column-resection-for-multi-level-severe-congenital-scoliosis
#14
Shichang Liu, Nannan Zhang, Yueming Song, Zongrang Song, Liping Zhang, Jijun Liu, En Xie, Qining Wu, Dingjun Hao
BACKGROUND: To compare radiologic results of posterior release, internal distraction, and final pedicle subtraction osteotomy (PSO) and spinal fusionwith one-stage posterior vertebral column resection (PVCR) in treating multi-level severe congenital scoliosis. METHODS: Forty-onesevere congenital scoliosis patients were used in the study. Group A comprised 24 patients who underwent one-stage PVCR. Group B comprised 17 patients who underwent posterior release with internal distraction, followed by final posterior fusion and instrumentation...
June 20, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28633635/maternal-use-of-selective-serotonin-reuptake-inhibitors-during-pregnancy-is-associated-with-hirschsprung-s-disease-in-newborns-a-nationwide-cohort-study
#15
Sebastian Werngreen Nielsen, Perniller Møller Ljungdalh, Jan Nielsen, Bente Mertz Nørgård, Niels Qvist
BACKGROUND: Hirschsprung's disease is a rare condition caused by congenital malformation of the gastrointestinal tract affecting 1:5000 children. Not much is known about risk factors for development of Hirschsprung's disease. Two clinical cases of hirschsprung's disease led to an investigation of the association between maternal use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and development of Hirschsprung's Disease in the newborn child. The study examined a nationwide, unselected cohort of children born in Denmark from 1 January 1996 until 12 March 2016 (n = 1,256,317)...
June 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28633549/an-update-on-zika-vaccine-developments
#16
Anna Durbin, Annelies Wilder-Smith
The devastating consequences of congenital Zika virus (ZIKV) infection led to a global response directed toward a better understanding of the epidemiology and pathogenesis of ZIKV and to efforts at vaccine development. As a result, there are currently 45 ZIKV vaccine candidates in development. Areas covered: Both traditional (purified inactivated, live attenuated, viral-vectored, recombinant sub-unit) and novel (DNA, self-replicating RNA, mRNA) vaccine platforms are being utilized. For emergency use, vaccines that are appropriate for women of child-bearing age (including pregnant women) are being developed...
June 21, 2017: Expert Review of Vaccines
https://www.readbyqxmd.com/read/28633507/digenic-duox1-and-duox2-mutations-in-cases-with-congenital-hypothyroidism
#17
Zehra Aycan, Hakan Cangul, Marina Muzza, Veysel N Bas, Laura Fugazzola, V Krishna Chatterjee, Luca Persani, Nadia Schoenmakers
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic Congenital Hypothyroidism (CH) which may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (eg dietary iodine) and oligogenic modifiers (eg variants in the homologous NADPH-oxidase DUOX1). However, loss of function mutations in DUOX1 have not hitherto been described and its role in thyroid biology remains undefined...
June 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28633370/therapeutic-catheterization-in-congenital-heart-disease-reflections-on-the-value-of-risk-scores
#18
Anselm Uebing, Michael A Gatzoulis, Michael L Rigby
No abstract text is available yet for this article.
June 13, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28633269/stenting-and-reimplanting-disconnected-pulmonary-artery-in-tetralogy-of-fallot
#19
Harikrishnan K N Kurup, Giedrius Baliulis, Marcus P Haw, Joseph J Vettukattil
Tetralogy of Fallot with absent pulmonary valve syndrome (TOF/APV) is a rare congenital malformation. Although pulmonary artery (PA) anomalies have been observed in TOF, its association with disconnected PA is extremely rare. We report successful stenting of the disconnected left PA in a 3-year-old boy with TOF/APV followed by surgical reimplantation. The significance of this transcatheter intervention for guidance during surgery and the importance of visualizing a ductal stump on angiography as an indicator of disconnected PA are discussed...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28633223/primary-pulmonary-vein-stenosis-outcomes-risk-factors-and-severity-score-in-a-multicentric-study
#20
David Kalfa, Emre Belli, Emile Bacha, Virginie Lambert, Duccio di Carlo, Martin Kostolny, Jukka Salminen, Matej Nosal, Alain Poncelet, Jurgen Horer, Hakan Berggren, Illya Yemets, Mark Hazekamp, Bohdan Maruszewski, George Sarris, Marco Pozzi, Tjark Ebels, François Lacour-Gayet
BACKGROUND: Primary pulmonary vein stenosis (PPVS) still carries a poor prognosis, and prognostic factors remain controversial. The aim of this study was to determine outcomes and prognostic factors after PPVS repair in the current era. METHODS: Thirty patients with PPVS and a normal pulmonary vein (PV) connection operated on in 10 European/North American centers (2000-2012) were included retrospectively. A specific PVS severity score was developed based on the assessment of each PV...
July 2017: Annals of Thoracic Surgery
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