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Congenital structure abnormality

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https://www.readbyqxmd.com/read/28706735/the-importance-of-copy-number-variation-in-congenital-heart-disease
#1
Gregory Costain, Candice K Silversides, Anne S Bassett
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD...
September 14, 2016: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#2
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28690482/barber-say-syndrome-and-ablepharon-macrostomia-syndrome-a-patient-s-view
#3
Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin B Chung, Albert David, Ariana Kariminejad, Maura Foresti, Marina Gallottini, Bertrand Isidor, Shannon Marchegiani, Fabiana Martins, Laura Mazzanti, Nathalie Roche, Ankur Singh, Cathy Stevens, Kenichi Suga, Martin Zenker, Raoul C Hennekam
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28690469/ankle-reconstruction-in-fibular-hemimelia-new-approach
#4
Hany Hefny, ElHussein M Elmoatasem, Mahmoud Mahran, Tamer Fayyad, Mohamed A Elgebeily, Ahmed Mansour, Mamdouh Hefny
BACKGROUND: Fibular hemimelia is a congenital disorder that is characterized by the absence of the fibula that could be either partial or complete. Successful management aims to restore normal weight bearing and normal limb length. The introduction of the Ilizarov method of limb lengthening has provided an attractive alternative to amputation. During lengthening, the tight posterolateral soft-tissue structures, the thick fibrous fibular band, and the shortened Achilles tendon become tighter and transfer a valgus force to the talus and calcaneus, further aggravating the deformity...
July 2017: HSS Journal: the Musculoskeletal Journal of Hospital for Special Surgery
https://www.readbyqxmd.com/read/28685322/affected-female-carriers-of-mtm1-mutations-display-a-wide-spectrum-of-clinical-and-pathological-involvement-delineating-diagnostic-clues
#5
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Tanya Stojkovic, Osorio Abath Neto, Sandra Mercier, Nicol Voermans, Laura Tanner, Curtis Rogers, Elisabeth Ollagnon-Roman, Helen Roper, Célia Boutte, Shay Ben-Shachar, Xavière Lornage, Nasim Vasli, Elise Schaefer, Pascal Laforet, Jean Pouget, Alexandre Moerman, Laurent Pasquier, Pascale Marcorelle, Armelle Magot, Benno Küsters, Nathalie Streichenberger, Christine Tranchant, Nicolas Dondaine, Raphael Schneider, Claire Gasnier, Nadège Calmels, Valérie Kremer, Karine Nguyen, Julie Perrier, Erik Jan Kamsteeg, Pierre Carlier, Robert-Yves Carlier, Julie Thompson, Anne Boland, Jean-François Deleuze, Michel Fardeau, Edmar Zanoteli, Bruno Eymard, Jocelyn Laporte
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate diagnostic clues, we characterized 17 new unrelated affected females and performed a detailed comparison with previously reported cases at the clinical, muscle imaging, histological, ultrastructural and molecular levels...
July 6, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28684259/zinner-syndrome-a-diagnostic-challenge-the-aid-of-morphology-embryology-and-immunohistochemistry
#6
Michela Campora, Alberto Olivero, Carlo Toncini, Bruno Spina, Ezio Fulcheri, Carlo Terrone, Valerio Gaetano Vellone
We investigate a patient with right kidney agenesis. Imaging showed the presence of a cystic mass dislocating the bladder. The specimen showed three formations: a kidney remnant, a ureter with blind-ending branch and a cysts, from this departed another tubular structure, considered the deferential duct. The specimen was sampled. The supposed kidney was formed by cystic structures. Examination of the tubular structures disclosed smooth muscle fibers with no lumen, while the cyst was surrounded by fibrous and hemorrhagic walls...
July 3, 2017: Urology
https://www.readbyqxmd.com/read/28658885/psychosis-in-a-case-of-dandy-walker-syndrome-a-case-report
#7
Ripu Daman Dawra, Sagar Karia, Nilesh Shah, Avinash Desousa
Dandy Walker Syndrome (DWS) is a congenital malformation with brain abnormalities, intellectual disabilities, epilepsy and visible structural changes in particular brain structures. We present here a case of psychosis in an 18-year-old male with DWS, epilepsy and intellectual disability. The purpose of this paper is to discuss the clinically relevant issues, psychopharmacological issues, neuropsychiatric manifestations and consultation liaison issues involved.
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28658048/increased-activation-of-the-hippocampus-during-a-chinese-character-subvocalization-task-in-adults-with-cleft-lip-and-palate-palatoplasty-and-speech-therapy
#8
Wenjing Zhang, Chunlin Li, Long Chen, Xiyue Xing, Xiangyang Li, Zhi Yang, Haiyan Zhang, Renji Chen
This study aimed to explore brain activation in patients with cleft lip and palate (CLP) using a Chinese character subvocalization task, in which the stimuli were selected from a clinical articulation evaluation test. CLP is a congenital disability. Individuals with CLP usually have articulation disorder caused by abnormal lip and palate structure. Previous studies showed that primary somatosensory and motor areas had a significant difference in activation in patients with CLP. However, whether brain activation was restored to a normal level after palatoplasty and speech rehabilitation is not clear...
August 16, 2017: Neuroreport
https://www.readbyqxmd.com/read/28652674/evolution-of-ventricular-outpouching-through-the-fetal-and-postnatal-periods-unabating-dilemma-of-serial-observation-or-surgical-correction
#9
REVIEW
Niraj Kumar Dipak, Sumitra Venkatesh, Shakuntala Prabhu, Sudha Rao
Ventricular outpouching is a rare finding in prenatal sonography and the main differential diagnoses are diverticulum, aneurysm, and pseudoaneurysm in addition to congenital cysts and clefts. The various modes of fetal presentation of congenital ventricular outpouching include an abnormal four-chamber view on fetal two-dimensional echocardiogram, fetal arrhythmia, fetal hydrops, and pericardial effusion. Left ventricular aneurysm (LVA)/nonapical diverticula are usually isolated defects. Apical diverticula are always associated with midline thoracoabdominal defects (epigastric pulsating diverticulum or large omphalocele) and other structural malformations of the heart...
July 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28649242/an-approach-for-a-synthetic-ctl-vaccine-design-against-zika-flavivirus-using-class-i-and-class-ii-epitopes-identified-by-computer-modeling
#10
Edecio Cunha-Neto, Daniela S Rosa, Paul E Harris, Tim Olson, Alex Morrow, Serban Ciotlos, Charles V Herst, Reid Martin Rubsamen
The threat posed by severe congenital abnormalities related to Zika virus (ZKV) infection during pregnancy has turned development of a ZKV vaccine into an emergency. Recent work suggests that the cytotoxic T lymphocyte (CTL) response to infection is an important defense mechanism in response to ZKV. Here, we develop the rationale and strategy for a new approach to developing cytotoxic T lymphocyte (CTL) vaccines for ZKV flavivirus infection. The proposed approach is based on recent studies using a protein structure computer model for HIV epitope selection designed to select epitopes for CTL attack optimized for viruses that exhibit antigenic drift...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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)
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