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Congenital structure abnormality

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https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#1
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28623555/goldenhar-syndrome-current-perspectives
#2
REVIEW
Katarzyna Bogusiak, Aleksandra Puch, Piotr Arkuszewski
BACKGROUND: Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques. DATA SOURCES: Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia...
June 15, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28621018/sleep-structure-in-blindness-is-influenced-by-circadian-desynchrony
#3
Sébrina Aubin, Poul Jennum, Tore Nielsen, Ron Kupers, Maurice Ptito
We examined the structure, duration and quality of sleep, including non-rapid eye movement sleep and rapid eye movement sleep, in 11 blind individuals without conscious light perception and 11 age- and sex-matched sighted controls. Because blindness is associated with a greater incidence of free-running circadian rhythms, we controlled for circadian phase by a measure of melatonin onset timing. When circadian rhythm was entrained and melatonin onset occurred at normal times, sleep structure did not differ between blind and sighted individuals...
June 16, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28602938/-let-s-bring-her-home-first-patient-characteristics-and-place-of-death-in-specialized-pediatric-palliative-home-care
#4
Hans Ulrich Bender, Martin Bernhard Riester, Gian Domenico Borasio, Monika Führer
CONTEXT: Specialized pediatric palliative home care (SPPHC) is the main pediatric palliative care structure in Germany. Detailed data on patient characteristics and care are sparse. Describing this population in terms of diagnoses and care needs is essential for further development of palliative care services for these patients. OBJECTIVES: We asked whether the population at our center (i) was representative compared with national mortality statistics; (ii) showed differences in the clinical course among the four diagnostic categories established by the Association for Children with Terminal Conditions/Royal College of Paediatrics and Child Health (ACT/RCPCH), and (iii) was different to published populations in pediatric palliative care regarding diagnoses, care and place of death...
June 7, 2017: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/28602132/treatment-of-congenital-clasped-thumb-in-arthrogryposis
#5
H Abdel-Ghani, M Mahmoud, A Shaheen, M Abdel-Wahed
We report the result of treatment of 69 complex clasped thumbs in 39 patients with distal arthrogryposis. The mean age at surgery was 30 months. Surgical reconstruction included skin augmentation of the first web using modified dorsal rotation advancement flap (Abdel-Ghani flap), a la Carte release of tight structures of the first web, and chondrodesis of the thumb metacarpophalangeal joint. The mean follow-up was 4 years. We prefer chondrodesis because of the presence of global instability, abnormal joint structure, abnormal articular surfaces, and inefficient muscles for transfer...
June 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28601976/zika-virus-as-an-emerging-neuropathogen-mechanisms-of-neurovirulence-and-neuro-immune-interactions
#6
REVIEW
Gerwyn Morris, Tatiana Barichello, Brendon Stubbs, Cristiano A Köhler, André F Carvalho, Michael Maes
Zika virus (ZIKV) is an emerging arbovirus of the genus Flaviviridae, which causes a febrile illness and has spread from across the Pacific to the Americas in a short timeframe. Convincing evidence has implicated the ZIKV to incident cases of neonatal microcephaly and a set of neurodevelopmental abnormalities referred to as the congenital Zika virus syndrome. In addition, emerging data points to an association with the ZIKV and the development of the so-called Guillain-Barre syndrome, an acute autoimmune polyneuropathy...
June 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28574580/echographic-features-and-perinatal-outcomes-in-fetuses-with-congenital-absence-of-ductus-venosus
#7
Raquel Garcia-Delgado, Raquel Garcia-Rodriguez, Azahar Romero Requejo, Marta Armas Roca, Luciana Obreros Zegarra, Margarita Medina Castellano, Jose A Garcia Hernandez
The purpose of this study was to describe the echographic features and perinatal outcomes of fetuses with absence of ductus venosus (ADV) MATERIAL AND METHODS: Retrospective review of 10 cases with ADV diagnosed by prenatal ultrasonography between January 2014 and February 2016 at a single referral center. Prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were reviewed RESULTS: A total of 11 491 fetuses underwent a first and second trimester screening during the study period...
June 2, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28573701/molecular-and-clinical-delineation-of-2p15p16-1-microdeletion-syndrome
#8
Jonathan Lévy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Géraldine Viot, Sandrine Passemard, Yline Capri, Séverine Drunat, Alain Verloes, Eva Pipiras, Brigitte Benzacken, Jean-Michel Dupont, Anne-Claude Tabet
Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects. It is defined as a contiguous gene syndrome and two critical regions have been proposed at 2p15 and 2p16.1 loci. Nevertheless, patients with deletion of both critical regions shared similar features of the phenotype and the correlation genotype-phenotype is still unclear...
June 1, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28564670/current-concepts-in-the-pathogenesis-diagnosis-and-management-of-type-i-chiari-malformations
#9
Cody A Doberstein, Radmehr Torabi, Petra M Klinge
Type 1 Chiari malformations (CMs) are a group of congenital or acquired disorders which include the abnormal presence of the cerebellar tonsils in the upper spinal canal, rather than the posterior fossa. The resulting anatomic abnormality causes crowding of the structures at the craniocervical junction and can impair the normal flow of cerebral spinal fluid (CSF) in this region. This impairment in CSF flow dynamics can led to the development of syringomyelia or hydrocephalus. Type 1 CMs have been associated with a wide array of symptoms resulting from either cerebellar and brainstem compression and distortion or disturbances in CSF dynamics, and can affect both children and adults...
June 1, 2017: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/28559696/the-determination-factors-of-left-right-asymmetry-disorders-a-short-review
#10
REVIEW
Andreea Catana, Adina Patricia Apostu
Laterality defects in humans, situs inversus and heterotaxy, are rare disorders, with an incidence of 1:8000 to 1:10 000 in the general population, and a multifactorial etiology. It has been proved that 1.44/10 000 of all cardiac problems are associated with malformations of left-right asymmetry and heterotaxy accounts for 3% of all congenital heart defects. It is considered that defects of situs appear due to genetic and environmental factors. Also, there is evidence that the ciliopathies (defects of structure or function) are involved in development abnormalities...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/28552149/pathology-of-cavernous-malformations
#11
Efrem M Cox, Nicholas C Bambakidis, Mark L Cohen
Cavernous malformations (CMs) are low-pressure angiographically occult lesions, composed of blood-filled sinusoidal locules known as "caverns." Although these lesions were once believed to be congenital in nature, there is compelling evidence to support de novo formation of CMs as well. They can occur as sporadic lesions or be inherited in an autosomal-dominant phenotype in familial forms of the disease. The pathophysiology of CMs is commonly believed to be due to abnormal vascular pathology. Three genes, CCM1, CCM2, and CCM3, have been extensively studied for their role in vascular pathology, resulting in abnormal angiogenesis and compromising the structural integrity of vessel endothelial cell...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28548989/imaging-adult-patients-with-fontan-circulation
#12
Salil Ginde, Benjamin H Goot, Peter C Frommelt
PURPOSE OF REVIEW: Survival after the Fontan procedure for palliation of single ventricle congenital heart disease has improved. However, adults with Fontan circulation are at risk for several complications including heart failure, thromboembolism, and protein-losing enteropathy. This review discusses the role of noninvasive imaging for surveillance and early detection of anatomic and functional abnormalities of the Fontan circulation that can impact the risk for Fontan failure over time...
May 25, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28542790/transition-to-motherhood-in-women-with-an-infant-with-special-care-needs
#13
O Korukcu, A Deliktaş, K Kukulu
BACKGROUND: Mothers of infants with special care needs experience multiple transitions, as their babies are diagnosed with congenital anomalies and hospitalized during their transition to motherhood. AIM: To examine the transition to motherhood in mothers of infants with special care needs, under the guidance of Meleis's Theory of Transition. METHODS: A descriptive qualitative approach was used. We followed a semi-structured form prepared in accordance with Meleis's Theory of Transition's concepts...
May 25, 2017: International Nursing Review
https://www.readbyqxmd.com/read/28542743/neuroimaging-cardiovascular-physiology-and-functional-outcomes-in-infants-with-congenital-heart-disease
#14
REVIEW
Nathalie H P Claessens, Christopher J Kelly, Serena J Counsell, Manon J N L Benders
This review integrates data on brain dysmaturation and acquired brain injury using fetal and neonatal magnetic resonance imaging (MRI), including the contribution of cardiovascular physiology to differences in brain development, and the relationship between brain abnormalities and subsequent neurological impairments in infants with congenital heart disease (CHD). The antenatal and neonatal period are critical for optimal brain development; the developing brain is particularly vulnerable to haemodynamic disturbances during this time...
May 19, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28541268/scrotal-ultrasonic-features-of-congenital-bilateral-absence-of-vas-deferens
#15
Jun Liu, Zhiqian Wang, MingYang Zhou, Min Li, Weiwei Zhan
OBJECTIVE: This article discusses scrotal ultrasonic features of patients with a congenital bilateral absence of the vas deferens (CBAVD). METHODS: Thirty-six patients with CBAVD were examined to obtain image characteristics of the bilateral testicle and epididymis by ultrasound. Each patient received a pathological examination of the sperm by percutaneous epididymal biopsy. RESULTS: Scrotal ultrasonic features were as follows: (1) testicular volumes were normal in all the 36 patients; (2) 21% (15/72) of the heads of epididymis, 67% (48/72) of the heads and bodies of epididymis, and 12% (9/72) of the heads, bodies, and tails of epididymis could be shown in the 72 epididymides of the 36 patients; (3) cystic or tubular dilation of the epididymis was obvious in all 72 abnormal epididymides; and (4) bilateral vas deferens could not be found in these patients...
June 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28540107/a-prospective-study-of-spectrum-risk-factors-and-immediate-outcome-of-congenital-anomalies-in-bida-north-central-nigeria
#16
Man Adeboye, M B Abdulkadir, O A Adegboye, A O Saka, P D Oladele, D M Oladele, E C Eze, O O Adeyemi, U Abubakar, A Grace, B F Rotimi
BACKGROUND: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life-threatening conditions. AIM: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors associated with these anomalies; and their short term outcome. SUBJECTS AND METHODS: Children with clinically recognized congenital malformations were recruited consecutively over a 12 month period and socio-demographic, etiologic and other relevant clinical data were obtained...
November 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28530250/the-hump-columellar-strut-a-reliable-technique-for-correction-of-nasal-tip-underprojection
#17
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
#18
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
#19
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
#20
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
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