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Congenital structure abnormality

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https://www.readbyqxmd.com/read/28530250/the-hump-columellar-strut-a-reliable-technique-for-correction-of-nasal-tip-underprojection
#1
P G Giacomini, S Mocella, S Di Girolamo, R De Berardinis, A Boccieri
Nasal tip under projection is often found in rhinoplasty cases both for congenital or post-traumatic deformity. Nasal trauma may result in alteration of the external and internal nasal structures with following aesthetic impairment and difficulties in breathing. Post-traumatic surgery is frequent, but restoration of pre-traumatic form and function remains a challenge. The present paper describes a new method to increase tip projection by a columellar strut harvested from the autologous nasal bone and cartilage of the resected hump...
May 22, 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28510626/outcome-measures-for-clinical-trials-of-leber-congenital-amaurosis-caused-by-the-intronic-mutation-in-the-cep290-gene
#2
Samuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, Alejandro J Roman, Jason Charng, Monica Lu, Windy Choi, Rebecca Sheplock, Malgorzata Swider, Mychajlo S Kosyk, Sharon B Schwartz, Edwin M Stone, Gerald A Fishman
Purpose: To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. Methods: CEP290-LCA patients (ages 5-48) with the intronic mutation (c.2991+1655A>G) were studied as a retrospective observational case series using clinical methods and with full-field sensitivity testing (FST), optical coherence tomography (OCT), autofluorescence imaging (NIR-RAFI), transient pupillary light reflex (TPLR), oculomotor control and instability (OCI), a mobility course, and a questionnaire (NEI-VFQ)...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28501546/diagnosis-of-primary-ciliary-dyskinesia-when-and-how
#3
J-J Braun, N Boehm, C Metz-Favre, I Koscinski, M Teletin, C Debry
INTRODUCTION: Primary ciliary dyskinesia (PCD) is a rare congenital disorder involving permanent ubiquitous structural and/or functional ciliary abnormalities. METHODS: A single-center retrospective study included 56 cases of PCD (respiratory form) out of a cohort of 280 patients with suspected PCD. The main features of history-taking and clinical examination were analyzed, to formulate a pragmatic diagnostic procedure, easy to implement in clinical practice. RESULTS: Chronic respiratory tract infectious symptoms are sensitive but non-specific for the diagnosis of PCD...
May 10, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28491158/an-unusual-cause-of-atrial-fibrillation-in-a-young-active-duty-soldier
#4
Rafik BenAbda, Anne Gunn, Eric Roberge, Ting-Wei Yang
Coronary artery fistula (CAF) is an abnormality in which the coronary artery has an anomalous connection with a venous structure such as the coronary sinus or atrium. CAF is usually congenital, but may be acquired. The prevalence in the general population is low with many asymptomatic and discovered incidentally. When symptomatic, CAF may present with dyspnea, decreasing functional capacity, and/or arrhythmia. We report a case of a young otherwise healthy active duty male with progressive symptoms of dizziness and exertional fatigue with paroxysmal atrial fibrillation...
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28488459/classification-of-congenital-anomalies-of-the-hand-and-upper-limb
#5
M A Tonkin
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved...
June 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28487368/matrix-gla-protein-deficiency-impairs-nasal-septum-growth-causing-midface-hypoplasia
#6
Juliana Marulanda, Hazem Eimar, Marc D McKee, Michelle Berkvens, Valentin Nelea, Hassem Roman, Teresa Borrás, Faleh Tamimi, Mathieu Ferron, Monzur Murshed
Genetic and environmental factors may lead to abnormal growth of the orofacial skeleton affecting the overall structure of the face. In the current study, we investigated the craniofacial abnormalities in a mouse model for Keutel syndrome, a rare genetic disease caused by loss-of-function mutations in the matrix Gla protein (MGP) gene. Keutel syndrome patients show diffuse ectopic calcification of cartilaginous tissues and impaired midface development. Our comparative cephalometric analyses of micro-CT images revealed a severe midface hypoplasia in Mgp-/- mice...
May 9, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28483032/advances-in-diagnosis-and-management-of-mitochondrial-cardiomyopathy
#7
Ruiqi Zhuge, Rong Zhou, Xinhai Ni
Mitochondrial cardiomyopathy (MCM) is a series of myocardial conditions characterized by abnormal heart-muscle structure,function,or both,secondary to genetic defects involving the mitochondrial respiratory chain,in the absence of concomitant coronary artery disease,hypertension,valvular disease,or congenital heart disease. MCM patients typically have hypertrophic or dilated cardiomyopathy. Arrhythmias and left ventricular myocardial noncompaction are less common,and heart failure may occur as the first symptom in some patients...
April 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28482387/-the-limitation-of-transthoracic-echocardiography-in-diagnosing-partial-anomalous-pulmonary-venous-drainage
#8
J Zhang, Y Gao, J L Yang, W D Chen, G Y Huang, X J Ma
Objective: To improve the diagnostic accuracy of transthoracic echocardiography (TTE) by analyzing its limitations in diagnosing partial anomalous pulmonary venous drainage (PAPVD). Method: This was a retrospective analysis of PAPVD patients seen at the Children's Hospital of Fudan University from October 1 2006 to October 1 2016. The echocardiographic data were compared to findings on multi-slice spiral CT (MSCT), cardiac catheterization or surgery. The echocardiography machines used were Philip IE33, GE Vivid 7 and Vivid i with frequency ranging from 5...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28469521/congenital-hepatic-cyst
#9
Aldo Recinos, Tarik Zahouani, Juan Guillen, Benamanahalli Rajegowda
Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic...
2017: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/28469102/prevalence-of-congenital-heart-disease-among-infants-from-2012-to-2014-in-langfang-china
#10
Peng-Fei Sun, Gui-Chun Ding, Min-Yu Zhang, Sheng-Nan He, Yu Gao, Jian-Hua Wang
BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformations with high mortality and morbidity. The prevalence of CHD reported previously ranged from 4 per 1000 live births to 50 per 1000 live births. In this cross-sectional study, we aimed to document the prevalence of CHD in Langfang district of Hebei Province, China by analyzing data collected by hospitals located in 11 the counties of the district, as supported by a public health campaign. METHODS: A total of 67,718 consecutive 3-month-old infants were included from July 19, 2012 to July 18, 2014...
May 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28465723/a-case-with-concurrent-duplication-triplication-and-uniparental-isodisomy-at-1q42-12-qter-supporting-microhomology-mediated-break-induced-replication-model-for-replicative-rearrangements
#11
Tomohiro Kohmoto, Nana Okamoto, Takuya Naruto, Chie Murata, Yuya Ouchi, Naoko Fujita, Hidehito Inagaki, Shigeko Satomura, Nobuhiko Okamoto, Masako Saito, Kiyoshi Masuda, Hiroki Kurahashi, Issei Imoto
BACKGROUND: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28464518/6q25-1-tab2-microdeletion-syndrome-congenital-heart-defects-and-cardiomyopathy
#12
Andrew Cheng, Mary Beth P Dinulos, Whitney Neufeld-Kaiser, Jill Rosenfeld, McKenna Kyriss, Suneeta Madan-Khetarpal, Hiba Risheg, Peter H Byers, Yajuan J Liu
Congenital heart defects (CHD) are the most frequent type of congenital anomaly and are often associated with genetic and chromosomal syndromes. Haploinsufficiency of TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2) has been proposed to cause valvular and cardiac outflow tract structural abnormalities. In this study, we describe 13 newly identified individuals with microdeletions of chromosome 6q25.1 that involve TAB2. One of the patients in our study cohort has the smallest deletion yet reported, affecting only TAB2...
May 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28461838/bilateral-chorioretinal-scars-in-a-child-case-report
#13
Tomi Anca, Stefan Irina
The eye manifestations of intrauterine infections are multiple, but chorioretinal scars and/or active chorioretinitis are the most frequently reported. When associated with other systemic manifestations of the infection, the diagnosis becomes more obvious, but when eye involvement is the only abnormality, etiology often remains uncertain. We are presenting the case of an 8-year-old female patient whose fundus lesions revealed an unusual choroidoretinopathy, associated with cataract in one eye. Her general examination and her medical history were unremarkable...
June 2016: Mædica
https://www.readbyqxmd.com/read/28458900/congenital-hyperinsulinism-and-poland-syndrome-in-association-with-10p13-14-duplication
#14
Dinesh Giri, Prashant Patil, Rachel Hart, Mohammed Didi, Senthil Senniappan
SUMMARY: Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28451018/infective-endocarditis-in-principal-hospital-of-dakar-a-retrospective-study-of-42-cases-over-10-years
#15
Djibril Marie Ba, Mouhamed Cherif Mboup, Nafissatou Zeba, Khadidiatou Dia, Awa Ndaw Fall, Fatou Fall, Pape Diadie Fall, Sara Boury Gning
Infective Endocarditis (IE) is an endocardial infection usually caused by bacteria that affects not only the native heart valves but also, with increasing frequency intravascular implanted devices and congenital heart diseases. Despite medical advances, IE remains a life-threatening disease with substantial morbidity and mortality. In Africa, its diagnosis and treatment are still a major challenge in clinical practice. The objective of this work was to study the epidemiological, clinical features, diagnostic techniques currently used in medical practice and the range of micro-organisms that are responsible...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28450094/adverse-effects-of-prenatal-and-early-postnatal-exposure-to-antiepileptic-drugs-validation-from-clinical-and-basic-researches
#16
REVIEW
Kimino Fujimura, Takayuki Mitsuhashi, Takao Takahashi
Epilepsy requires the long-term administration of antiepileptic drugs (AEDs), and thus, we must consider the effects of prenatal AED exposure on fetus when treating female patients of child bearing age. Large prospective clinical researches in humans have demonstrated the following: (1) prenatal exposure to valproic acid (VPA), carbamazepine, and phenobarbital increases the risk of congenital malformations in a dose-dependent manner and (2) prenatal exposure to VPA increases the risk of higher brain function impairments including intellectual disabilities and autistic spectrum disorders in the offspring...
April 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28444691/maldi-ms-profiling-of-serum-o-and-n-glycosylation-in-cog5-cdg
#17
Angelo Palmigiano, Rosaria Ornella Bua, Rita Barone, Daisy Rymen, Luc Régal, Nicolas Deconinck, Carlo Dionisi-Vici, Cheuk-Wing Fung, Domenico Garozzo, Jaak Jaeken, Luisa Sturiale
Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. COG-CDG are genetic diseases due to defects of the conserved oligomeric Golgi (COG) complex subunits 1-8 causing N- and O-glycan processing abnormalities. In COG-CDG, IEF separation of undersialylated glycoforms of serum transferrin and apolipoprotein C-III (apoC-III) allows to detect N- and O-glycosylation defects respectively. COG5-CDG (COG5 subunit deficiency) is a multisystem disease with dysmorphic features, intellectual disability of variable degree, seizures, acquired microcephaly, sensory defects and autistic behavior...
April 25, 2017: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#18
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28430115/a-systematic-review-of-3-d-printing-in-cardiovascular-and-cerebrovascular-diseases
#19
Zhonghua Sun, Shen Yuan Lee
OBJECTIVE: The application of 3-D printing has been increasingly used in medicine, with research showing many applications in cardiovascular disease. This systematic review analyzes those studies published about the applications of 3-D printed, patient-specific models in cardiovascular and cerebrovascular diseases. METHODS: A search of PubMed/Medline and Scopus databases was performed to identify studies investigating the 3-D printing in cardiovascular and cerebrovascular diseases...
April 10, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28421190/first-trimester-crown-rump-length-and-embryonic-volume-of-fetuses-with-structural-congenital-abnormalities-measured-in-virtual-reality-an-observational-study
#20
L Baken, B Benoit, A H J Koning, P J van der Spek, E A P Steegers, N Exalto
Background. With the introduction of three-dimensional (3D) ultrasound it has become possible to measure volumes. The relative increase in embryonic volume (EV) is much larger than that of the crown-rump length (CRL) over the same time period. We examined whether EV is a better parameter to determine growth restriction in fetuses with structural congenital abnormalities. Study Design, Subjects, and Outcome Measures. CRL and EV were measured using a Virtual Reality (VR) system in prospectively collected 3D ultrasound volumes of 56 fetuses diagnosed with structural congenital abnormalities in the first trimester of pregnancy (gestational age 7(+5) to 14(+5) weeks)...
2017: BioMed Research International
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