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Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
C S Paththinige, N D Sirisena, U G I U Kariyawasam, L P C Saman Kumara, V H W Dissanayake
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4...
2016: Case Reports in Genetics
Somchit Jaruratanasirikul, Boonsin Tangtrakulwanich, Pornruedee Rachatawiriyakul, Hutcha Sriplung, Wannee Limpitikul, Pathikan Dissaneevate, Nattasit Khunnarakpong, Pongsak Tantichantakarun
This is the first population-based study in Thailand on the prevalence of congenital limb defects (CLD). Data were obtained from recently established birth defects registries in three southern Thailand provinces during 2009-2013. Entries in the birth defects registries included live births, stillbirths after 24 weeks gestational age, and terminations of pregnancy following a prenatal diagnosis of fetal anomaly. The total of 186 393 births recorded included 424 CLD cases, giving an average prevalence of 2...
September 2016: Congenital Anomalies
Boris Groisman, Juan Gili, Lucas Giménez, Fernando Poletta, María Paz Bidondo, Pablo Barbero, Rosa Liascovich, Jorge López-Camelo
Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time. The aim of this study was to identify potential geographical clusters of specific selected congenital anomalies (CA) in Argentina. The cases were ascertained from 703,325 births, examined in 133 maternity hospitals in the 24 provinces of Argentina. We used the spatial scan statistic to determine areas of Argentina which had statistically significant elevations of prevalence...
August 19, 2016: Journal of Community Genetics
Pietro Persiani, Filippo Maria Ranaldi, Lorena Martini, Anna Zambrano, Mauro Celli, Patrizia D'Eufemia, Ciro Villani
BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures...
August 2016: Medicine (Baltimore)
Masaaki Sugawara, Fumiaki Oguma, Hiroyuki Hirahara
Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve...
August 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Q L Guo, F Fu, R Li, X Y Jing, T Y Lei, J Han, X Yang, L Zhen, M Pan, C Liao
OBJECTIVE: To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology. METHODS: From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes...
July 25, 2016: Zhonghua Fu Chan Ke za Zhi
Christian Sætersdal, Jonas M Fevang, John Asle Bjørlykke, Lars B Engesæter
PURPOSE: Despite few studies comparing Ponseti treatment and traditional treatment of clubfoot (talipes equinovarus), the Ponseti method is now accepted as standard treatment for this deformity. The Ponseti method was introduced in Norway in 2003 and the purpose of this multicenter-study was to compare the results of Ponseti treatment with the results of the previous treatment for clubfoot in Norway. METHODS: 90 children (134 clubfeet) treated with previous treatment (pre-Ponseti group), were compared to 115 Ponseti treated children (160 clubfeet) (Ponseti group)...
October 2016: Journal of Children's Orthopaedics
El Sayed Abd El-Halim Abdullah
INTRODUCTION: Abductor hallucies tenotomy sometimes necessary in treatment of clubfoot. MATERIAL AND METHODS: Thirty children (45 feet) of one day old up to six months presented with idiopathic clubfoot. Patients were treated using the technique of Ponseti combined by abductor hallucies tenotomy after serial casting. RESULTS: At a mean follow up period of 16.7 months, 43/45 feet were good (95%), 2/45 feet were bad (5%). The mean Pirani score at the final follow up was 1...
September 2016: Journal of Orthopaedics
Haiou Yang, Zhaojing Zheng, Haiqing Cai, Huimin Li, Xingchen Ye, Xiaoqing Zhang, Zhigang Wang, Qihua Fu
Congenital talipes equinovarus (CTEV) is one of the most common musculoskeletal disorders. Genetic factors have been suggested to be an important contributor to its pathogenesis. Some genes, including PITX1, TBX4, and RBM10, have been associated with CTEV. We aimed to determine the disease-causing mutations in Chinese patients with isolated CTEV. Genomic DNA was extracted from peripheral blood samples of a three-generation pedigree and 53 sporadic patients with CTEV. Whole-exome sequencing and Sanger sequencing were used to identify and validate disease-causing mutations, respectively...
October 2016: Human Genetics
Bi-Cheng Yong, Fu-Xing Xun, Lan-Juan Zhao, Hong-Wen Deng, Hong-Wen Xu
The genetic cause of idiopathic congenital talipes equinovarus (ICTEV) is largely unknown. We performed a systematic review to describe the findings from 21 studies that have examined the genetic variants related to ICTEV, and to evaluate the quality of reporting. We found that ICTEV was positively associated with Hox family genes, collagen family genes, GLI3, N-acetylation genes, T-box family genes, apoptotic pathway genes, and muscle contractile family genes. Negative and controversial results were also discussed, and several genes associated with ICTEV were identified...
2016: SpringerPlus
C-H Dong, Z-M Wang, X-L Zhao, A-M Wang
OBJECTIVE: Talipes equinovarus is traditionally viewed in the literature as a congenital disease. CASE REPORT: We present here a case of the acquired talipes equinovarus (clubfoot) in a young adult patient that has developed the following osteomyelitis. RESULTS: We have successfully corrected this condition by fibula extension and correction of foot and ankle deformity, using external fixation device. The treatment period has extended over three years and involved two operations...
June 2016: European Review for Medical and Pharmacological Sciences
Sebastian Schmitt, Anna C Peak, Gregor Berrsche, Wolfram Wenz
Foot deformities are found in several neurologic conditions, most typically, but not exclusively, Charcot-Marie-Tooth disease. Posttraumatic deformities and undercorrection or overcorrection of congenital talipes equinovarus are also encountered. A severely deformed foot that cannot fit into normal shoes presents a significant day-to-day challenge to the young and active patient. This article presents some basic principles for evaluating the deformity and a toolkit of procedures to deal with these complex cases...
June 2016: Foot and Ankle Clinics
Travis G O'Brien, Robert J Spinner, Andrea J Boon
INTRODUCTION: Neuromuscular choristomas (NMCs) are rare benign peripheral nerve lesions in which skeletal muscle tissue is admixed with nerve fascicles. METHODS: We describe a case of sciatic nerve NMC presenting with unilateral limb hypoplasia, monoparesis, and equinovarus contracture in a pediatric patient. We outline the unique clinical presentation and diagnostic work-up for our patient, including electromyographic and imaging studies. RESULTS: MRI revealed fusiform enlargement of the sciatic nerve, <50% intralesional fat, and signal characteristics similar to those of muscle tissue...
October 2016: Muscle & Nerve
Nathalie Khalil, Claudie Chauvière, Loïc Le Chapelain, Hélène Guesdon, Elodie Speyer, Hervé Bouaziz, Didier Mainard, Jean-Marie Beis, Jean Paysant
The aim of this study was to analyze the displacements of center of pressure (COP) using an in-shoe recording system (F-Scan) before and after motor nerve block and neurotomy of the tibial nerve in spastic equinovarus foot. Thirty-nine patients (age 45 ± 15 yr) underwent a motor nerve block; 16 (age 38 ± 15.2 yr) had tibial neurotomy, combined with tendinous surgery (n = 9). The displacement of the COP (anteroposterior [AP], lateral deviation [LD], posterior margin [PM]) was compared between paretic and nonparetic limbs before and after block and surgery...
2016: Journal of Rehabilitation Research and Development
Shaobin Lin, Jianzhu Wu, Zhiqiang Zhang, Yuanjun Ji, Qun Fang, Baojiang Chen, Yanmin Luo
OBJECTIVE: To analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype. METHODS: Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation...
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Anne Pilotti, Katy Scharff
In France, one child in every 800 is born with talipes equinovarus. This congenital deformity of the foot prevents the flexion and extension of the ankle. Follow-up by a psychologist is essential during the care of a child with this condition, in parallel with functional rehabilitation by the masseur-physiotherapist.
March 2016: Soins. Pédiatrie, Puériculture
C Faldini, L Prosperi, F Traina, M Nanni, S Tesfaghiorghi, S Tsegay, M Yosief, C Pungetti, I Sanzarello
An Italian team of orthopaedic surgeons joined Eritrean colleagues to perform a clinical study in ambulating children affected by neglected idiopathic congenital talipes equinovarus (clubfoot). This study reports the surgical strategy as well as clinical outcomes, early complications and relapse at a mid-term follow-up. Four expeditions of 7 days were organized between 2012 and 2015 from Italy to the Halibet Hospital of Asmara in Eritrea. In each expedition were included two experienced surgeons, two assistants and one anaesthesiologist...
August 2016: Musculoskeletal Surgery
Ja Young Choi, Soojin Jung, Dong Wook Rha, Eun Sook Park
PURPOSE: To investigate the effect of intramuscular Botulinum toxin type A (BoNT-A) injection on gait and dynamic foot pressure distribution in children with spastic cerebral palsy (CP) with dynamic equinovarus foot. MATERIALS AND METHODS: Twenty-five legs of 25 children with CP were investigated in this study. BoNT-A was injected into the gastrocnemius (GCM) and tibialis posterior (TP) muscles under the guidance of ultrasonography. The effects of the toxin were clinically assessed using the modified Ashworth scale (MAS) and modified Tardieu scale (MTS), and a computerized gait analysis and dynamic foot pressure measurements using the F-scan system were also performed before injection and at 1 and 4 months after injection...
March 2016: Yonsei Medical Journal
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