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Congenital deformity

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https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#1
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#2
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29133275/normal-values-for-myocardial-deformation-within-the-right-heart-measured-by-feature-tracking-cardiovascular-magnetic-resonance-imaging
#3
Boyang Liu, Ahmed M Dardeer, William E Moody, Nicola C Edwards, Lucy E Hudsmith, Richard P Steeds
BACKGROUND: Reproducible and repeatable assessment of right heart function is vital for monitoring congenital and acquired heart disease. There is increasing evidence for the additional value of myocardial deformation (strain and strain rate) in determining prognosis. This study aims to determine the reproducibility of deformation analyses in the right heart using cardiovascular magnetic resonance feature tracking (FT-CMR); and to establish normal ranges within an adult population. METHODS: A cohort of 100 healthy subjects containing 10 males and 10 females from each decade of life between the ages of 20 and 70 without known congenital or acquired cardiovascular disease, hypertension, diabetes, dyslipidaemia or renal, hepatic, haematologic and systemic inflammatory disorders underwent FT-CMR assessment of right ventricular (RV) and right atrial (RA) myocardial strain and strain rate...
October 31, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29106869/check-list-for-the-assessment-of-functional-impairment-in-children-with-congenital-aural-atresia
#4
Silvia Montino, Anna Agostinelli, Patrizia Trevisi, Alessandro Martini, Sara Ghiselli
OBJECTIVES: Congenital Aural Atresia (CAA) is a deformity of the external ear and it is commonly associated with malformations of middle and inner ear and, in some cases, with other facial deformities. Very few assessment measures exist for evaluating the functional impairment in children with CAA. Purpose of this study is to introduce and describe an assessment Checklist, (nominated FOS Checklist) that covers feeding abilities (F), oralmotor skills (O), communication/language development (S) in children with CAA...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29106557/surgical-results-of-mitral-valve-repair-for-congenital-mitral-valve-stenosis-in-paediatric-patients
#5
Sungkyu Cho, Woong-Han Kim, Jae Gun Kwak, Jeong Ryul Lee, Yong Jin Kim
OBJECTIVES: Mitral valve (MV) repairs have been performed in paediatric patients with congenital MV stenosis. However, congenital MV stenosis lesions are a heterogeneous group of lesions, and their repair remains challenging. METHODS: From March 1999 to September 2014, MV repair was performed in 22 patients with congenital MV stenosis. The median age was 10.3 months (ranging from 22 days to 9.1 years), and the mean body weight was 7.9 ± 4.0 kg at the time of the operation...
July 4, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29077229/does-cryopreservation-influence-perinatal-outcome-after-blastocyst-stage-vs-cleavage-stage-transfer-a-systematic-review-and-meta-analysis
#6
REVIEW
Carlo Alviggi, Alessandro Conforti, Ilma Floriana Carbone, Rosaria Borrelli, Giuseppe De Placido, Stefano Guerriero
OBJECTIVE: To compare the perinatal outcomes of singleton pregnancies between blastocyst and cleavage embryo transfer and to assess whether this differs between fresh and frozen embryo transfer cycles. METHODS: A systematic review of the literature was carried out using the SCOPUS, MEDLINE and ISI WEB OF SCIENCE databases with no time restriction. The search terms were "blastocyst", "cleavage-stage embryo", "perinatal outcome", "perinatal mortality", "preterm birth", "premature birth", "birth weight", "congenital abnormalities", "congenital defect", "deformity", and "birth defect"...
October 27, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29058584/radiographic-characteristics-in-congenital-scoliosis-associated-with-split-cord-malformation-a-retrospective-study-of-266-surgical-cases
#7
Fan Feng, Haining Tan, Xingye Li, Chong Chen, Zheng Li, Jianguo Zhang, Jianxiong Shen
BACKGROUND: Vertebrae, ribs, and spinal cord are anatomically adjacent structures, and their close relationships are clinically important for planning better corrective surgical approach. The objective is to identify the radiographic characteristics in surgical patients with congenital scoliosis (CS) and coexisting split cord malformation (SCM). METHODS: A total of 266 patients with CS and SCM underwent surgical treatment at our hospital between May 2000 and December 2015 was retrospectively identified...
October 23, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29054766/rethinking-genotype-phenotype-correlations-in-papillorenal-syndrome-a-case-report-on-an-unusual-congenital-camptodactyly-and-skeletal-deformity-with-a-heterogeneous-pax2-mutation-of-hexanucleotide-duplication
#8
Jiewei Liu, Ping Wang, Juan Huang, Zihua Yu
Papillorenal syndrome (PRS), an autosomal dominant inherited condition, is clinically featured by renal hypoplasia and optic nerve dysplasia. Based on current knowledge of genotype-phenotype correlations in PRS, mutations in the Paired box 2 (PAX2) gene have been recognized as a critical pathogenesis of typical renal and optic disease manifestations. However, little information is currently available on the skeletal abnormalities of PRS and the potential contribution of PAX2 mutations. Here, we present a case of a 10-year-old female PRS patient with the typical features of chronic renal failure and severe myopia, but was unexpectedly discovered camptodactyly of her left middle finger which affects the proximal interphalangeal joint...
October 17, 2017: Gene
https://www.readbyqxmd.com/read/29053488/causes-of-childhood-vision-impairment-in-the-school-for-the-blind-in-eritrea
#9
Rajendra Gyawali, Vanessa R Moodley
SIGNIFICANCE: Our study provides the much-needed evidence on causes of childhood blindness in Eritrea. This will assist authorities to plan appropriate strategies and implement preventive, curative, and rehabilitative services to address these causes of vision loss in children in this resource-limited country. PURPOSE: This study aims to identify the causes of severe vision impairment and blindness in children attending the only school for the blind in Eritrea. METHODS: All children enrolled in the school were examined, and the World Health Organization form for the examination of visually impaired children was used to record the data...
October 19, 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29052742/-triple-arthrodesis-for-correction-of-cavovarus-deformity
#10
REVIEW
A Barg, R Ruiz, B Hintermann
OBJECTIVE: The aim is to correct the underlying cavovarus deformity and to achieve a pain-free and stable hindfoot. INDICATIONS: Rigid neurologic, posttraumatic, congenital, and idiopathic cavovarus deformities. CONTRAINDICATIONS: General surgical or anesthesiological risks, infections, critical soft tissue conditions, neurovascular impairment of the lower extremity, noncompliance, patients with severely reduced bone quality, insulin-dependent diabetes mellitus, smoking...
October 20, 2017: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/29051055/skeletal-impairment-in-pierson-syndrome-is-there-a-role-for-laminin%C3%AE-2-in-bone-physiology
#11
Camille Beaufils, Delphine Farlay, Irma Machuca-Gayet, Alice Fassier, Martin Zenker, Caroline Freychet, Edith Bonnelye, Aurélia Bertholet-Thomas, Bruno Ranchin, Justine Bacchetta
INTRODUCTION: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described. METHODS: We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome...
October 16, 2017: Bone
https://www.readbyqxmd.com/read/29050722/adjacent-segment-disease-44-years-following-posterior-spinal-fusion-for-congenital-lumbar-kyphosis
#12
Avionna Baldwin, Addisu Mesfin
STUDY DESIGN: Case report. OBJECTIVE: To report the clinical and imaging findings of a patient with lumbar stenosis 44 years after posterior spinal fusion for congenital lumbar kyphosis. SUMMARY OF BACKGROUND DATA: To our knowledge, there are no long-term follow-up reports after posterior spine fusion (PSF) for congenital kyphosis. Congenital kyphosis is an uncommon deformity with the potential to progress rapidly and result in deformity and neurologic deficits...
November 2017: Spine Deformity
https://www.readbyqxmd.com/read/29049846/successful-management-of-transfusion-dependent-congenital-dyserythropoietic-anemia-type-1b-with-interferon-alfa-2a
#13
Mathias Rathe, Michael Boe Møller, Pernille Wied Greisen, Niels Fisker
The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities...
October 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29049244/isolated-heptadactylia-a-case-report-of-central-polydactyly-of-the-foot
#14
Nicolas Piette, Pierre-Yves Zambelli, Daniel N'Dele
RATIONALE: Heptadactylia is a rare congenital disorder from the polydactyly family. Polydactyly is generally classified into 3 major groups: preaxial (medial ray), postaxial (lateral ray), and central polydactyly. Most common cases are related to preaxial or postaxial polydactyly. The rarity of central polydactyly can be explained in 3 ways. First, central polydactyly with duplication appearing on metatarsal is pretty uncommon. Second, the duplication appears isolated on the foot. Polydactyly is mostly associated with other physical defects or others duplications...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29049087/raising-mean-arterial-pressure-alone-restores-20-of-intraoperative-neuromonitoring-losses
#15
Joshua Yang, David L Skaggs, Priscella Chan, Suken A Shah, Michael G Vitale, Geraldine Neiss, Nicholas Feinberg, Lindsay M Andras
STUDY DESIGN: Multicenter prospective. OBJECTIVE: To assess the effect of intraoperative interventions in restoring intraoperative neuromonitoring (IONM) signals in pediatric spine surgery. SUMMARY OF BACKGROUND DATA: No prior studies have prospectively examined the rate of return of IONM signals by increasing blood pressure (BP) alone. METHODS: Patients undergoing posterior spinal deformity surgery were enrolled at their preoperative appointment...
October 18, 2017: Spine
https://www.readbyqxmd.com/read/29045031/the-triangular-rotation-advancement-flap-for-congenital-longitudinal-earlobe-cleft
#16
Niharika Padhy, Devi Prasad Mohapatra, Friji M T, Ravi Kumar Chittoria, S Dinesh Kumar, Sudhanva Hemant Kumar, Elankumar Subbarayan
The Earlobe is an essential part of the facial aesthetics. Almost all cultures of the world use the earlobe for improving their appearances. Deformities or absence of the earlobe is a cause of distress to many individuals. This article is protected by copyright. All rights reserved.
October 16, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29037794/ventricular-performance-is-associated-with-need-for-extracorporeal-membrane-oxygenation-in-newborns-with-congenital-diaphragmatic-hernia
#17
Gabriel Altit, Shazia Bhombal, Krisa Van Meurs, Theresa A Tacy
OBJECTIVE: To compare echocardiography (ECHO) findings of patients with congenital diaphragmatic hernia (CDH) who required extracorporeal membrane oxygenation (ECMO) to non-ECMO treated patients. STUDY DESIGN: We reviewed clinical and ECHO data of newborns with CDH born between 2009 and 2016. Exclusions included major anomalies, genetic syndromes, or no ECHO prior to ECMO. Pulmonary hypertension was assessed by ductal shunting and tricuspid regurgitant jet. Speckle tracking echocardiography (STE) assessed function by quantifying deformation...
October 13, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29033484/congenital-malformation-and-autism-spectrum-disorder-insight-from-a-rat-model-of-autism-spectrum-disorder
#18
Rakesh K Ruhela, Phulen Sarma, Shringika Soni, Ajay Prakash, Bikash Medhi
AIMS AND OBJECTIVES: The primary aim was an evaluation of the pattern of gross congenital malformations in a rat model of autism spectrum disorder (ASD) and the secondary aim was characterization of the most common gross malformation observed. MATERIALS AND METHODS: In females, the late pro-oestrous phase was identified by vaginal smear cytology, and then, they were allowed to mate at 1:3 ratio (male: female). Pregnancy was confirmed by the presence of sperm plug in the vagina and presence of sperm in the vaginal smear...
May 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29033291/controversies-in-poland-syndrome-alternative-diagnoses-in-patients-with-congenital-pectoral-muscle-deficiency
#19
Martijn Baas, Elise B Burger, Dimitri Sneiders, Robert-Jan H Galjaard, Steven E R Hovius, Christianne A van Nieuwenhoven
PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency...
October 13, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29029959/ldt-classification-and-therapeutic-strategy-of-congenital-body-wall-defects
#20
Shun Wu, Ke Guo, Peng Xiao, Jiaming Sun
BACKGROUND: Repairing body wall defects is a critical step in the treatment of some congenital deformities, and this procedure may need the help from plastic surgeons. Although there are many articles about congenital deformities, body wall defects of these malformations are rarely studied as independent targets. METHODS: In this article, the authors present an LDT classification for congenital body wall defects according to the position of the defects, the tissue layers involved, and the surgical urgency, each of which is represented by letters L, D, and T, respectively...
September 19, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
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