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Congenital Hip Dysplasia

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https://www.readbyqxmd.com/read/30538526/a-novel-de-novo-tbx5-mutation-in-a-patient-with-holt-oram-syndrome
#1
Lady J Ríos-Serna, Lorena Díaz-Ordoñez, Estephania Candelo, Harry Pachajoa
Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the TBX5 gene at NM_181486.2:c.243-1G>C was identified.
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/30511388/a-genome-wide-association-study-identifies-new-genes-associated-with-developmental-dysplasia-of-the-hip
#2
Wenjin Yan, Zheng Hao, Shuyan Tang, Jin Dai, Liming Zheng, Pengjun Yu, Wenqiang Yan, Xiao Han, Xingquan Xu, Dongquan Shi, Shiro Ikegawa, Huajian Teng, Qing Jiang
Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). A total of 406 DDH-associated genes (P< 0...
December 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30510952/postoperative-redislocation-of-the-hip-in-a-patient-with-congenital-insensitivity-to-pain-with-anhidrosis-a-case-report-and-review-of-literature
#3
Rui Wang, Yi Liu, Yi-Yi Zhou, Jia-Ying Wang, Zhu-Jie Xu, Sha-Yang Chen, Qi-Qi Wang, Peng Yuan
Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary disease that often has the characteristics of joint development deformity and easy fracture. This article reports the case involving a CIPA patient who was surgically treated by Chiari pelvic osteotomy and proximal femoral rotation osteotomy for congenital dislocation of the left hip joint and was provided long-term follow-up for redislocation and bilateral femoral head absorption...
November 26, 2018: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/30510828/bilateral-total-hip-and-unilateral-knee-arthroplasties-in-a-young-adult-with-arthropathy-associated-intestinal-epithelial-dysplasia-tufting-enteropathy
#4
Colin Ng, Kurt Magri, Ryan Giordmaina, Duncan Whitwell
Intestinal epithelial dysplasia (tufting enteropathy) is an uncommon congenital disorder. Furthermore, its association with chronic inflammatory arthropathy is rarely documented in the literature. Low prevalence rates of 1 in 100,000 live births in Western Europe exist, with higher rates in North Africa and Middle Eastern countries. Malta, being a small Mediterranean island at the cusp between Europe and North Africa, has an anecdotal sevenfold prevalence rate. This is the first documented case report of a patient with both intestinal epithelial dysplasia and severe bilateral hip and knee arthropathy that required simultaneous bilateral hip followed by, after a short interval, unilateral knee arthroplasties...
2018: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/30505222/scintigraphic-evaluation-of-colonic-transit-in-children-with-constipation-using-67-ga-citrate
#5
José Ulisses Manzzini Calegaro, João Batista Monteiro Tajra, Janaína França De Magalhães Souto, Flávia Ribeiro Marciano, Danielle Cicarini De Landa, Sung Boon Bae, Hélio Buzon Filho
The aim of this study was to assess the colonic transit in children and teenagers with chronic constipation. Twenty patients from 1.5 to 16 years old were included (mean age = 6.9 years). Chronic constipation etiologies were as follows: congenital megacolon in 6; surgical treatment in 5 (imperforate anus 2, hip dysplasia 1, sacral teratoma 1, and paraspinal neuroblastoma 1); idiopathic chronic constipation in 5; sacral myelomeningocele in 3; and intestinal duplication in 1. Static images on the anterior projection of the abdomen were performed 1, 6, 24, 48, and 72 h after the radiotracer oral administration...
October 2018: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/30281093/outcome-of-pregnancies-in-female-patients-with-inflammatory-bowel-diseases-treated-with-vedolizumab
#6
Annick Moens, Karen van Hoeve, Evelien Humblet, Jean-François Rahier, Peter Bossuyt, Sophie Dewit, Denis Franchimont, Elisabeth Macken, Jochen Nijs, Annelies Posen, Beatrijs Strubbe, Anneleen Van Hootegem, Wouter Van Moerkercke, Séverine Vermeire, Marc Ferrante
Background and Aims: Vedolizumab is an IgG1 anti-α4β7 integrin antibody approved for the treatment of inflammatory bowel diseases [IBD], but without clear safety data during conception, pregnancy and nursing. Animal studies showed that mucosal vascular addressin cell adhesion molecule 1 [MAdCAM-1] is expressed by maternal vessels in the placenta and recruits α4β7-expressing cells that are considered important for maternal/fetal tolerance. Blocking this interaction by vedolizumab might affect this process...
October 3, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/30262704/association-analysis-between-four-vitamin-d-receptor-gene-polymorphisms-and-developmental-dysplasia-of-the-hip
#7
Ayman H Jawadi, Anwar Wakeel, Waleed Tamimi, A Nasr, Zafar Iqbal, Abdullah Mashhour, Mohamed A Fattah, Nawaf Alkhanein, Ahmad S Abu Jaffal
Developmental dysplasia of the hip (DDH) is a congenital condition characterized by abnormality in acetabulum size and/or shape. The incidence rate of DDH differs between different populations with risk factors including positive family history, breech presentation, sex, firstborn status, side of the hip, mode of delivery and oligohydramnios. It is recognized that DDH has a genetic component that exhibit autosomal dominant patterns. Many candidate genes have been studied and found to be associated with the disease; most of them are normally involved in cartilage development and joint metabolism...
September 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30256053/transient-femoral-nerve-palsy-in-spica-cast-treatment-for-developmental-dysplasia-of-the-hip
#8
Luisella Pedrotti, Barbara Bertani, Gabriella Tuvo, Redento Mora, Mario Mosconi, Federica De Rosa
A 4 months and half female child come to our attention for congenital dislocation of the left hip, previously treated in another hospital with abduction bracing, without satisfactory results. After progressive longitudinal bilateral traction, closed reduction under general anesthesia was performed and a spica cast was applied in the so-called human position. The patients remained in the spica cast for 6 weeks and then the plaster cast was renewed in narcosis for another 6 weeks. Once the second cast has been removed left femoral nerve palsy was detected...
September 26, 2018: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
https://www.readbyqxmd.com/read/30166802/incidence-trends-and-associated-risks-of-developmental-hip-dysplasia-in-patients-with-early-onset-and-adolescent-idiopathic-scoliosis
#9
Frank A Segreto, Dennis Vasquez-Montes, Avery E Brown, Cole Bortz, Samantha R Horn, Bassel G Diebo, Peter L Zhou, Shaleen Vira, Joseph F Baker, Anthony M Petrizzo, Renaud Lafage, Virginie Lafage, Thomas J Errico, Peter G Passias
Introduction: Early Onset and Adolescent Idiopathic Scoliosis, relatively common diagnoses (∼3% general population), have been associated with developmental dysplasia of the hip (DDH); a more rare spectrum of anomalies related to the abnormal development of acetabulum, proximal femur, and hip joint. To the best of our knowledge, no high powered investigations have been performed in an attempt to assess incidence and associated risks of DDH in scoliosis patients. Methods: The KID database was queried for ICD-9 codes from 2003 to 2012 pertaining to EOS (Congenital and Idiopathic <10y/o) and AIS patients...
September 2018: Journal of Orthopaedics
https://www.readbyqxmd.com/read/30091056/-modified-neck-lengthening-osteotomy-after-morscher-in-children-and-adolescents
#10
REVIEW
R Placzek, M Gathen, S Koob, C Jacobs, M M Ploeger
OBJECTIVE: Growth disorders (e. g. caused by congenital hip dislocation, Perthes disease or bacterial coxitis) often lead to an infantile deformity of the proximal femur with a shortened femoral neck and displaced grater trochanter. In 1988, Morscher and Buess described a femoral neck lenghtening osteotomy for treatment of adults. For the first time, we show a modification of this osteotomy for children and adolescents with a locking plate system. The aim is to restore the normal anatomy of the femoral neck and biomechanics of the proximal femur...
October 2018: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/30046893/long-term-survival-of-the-cemented-m%C3%A3-ller-cdh-stem-a-minimum-follow-up-of-10-years
#11
Yves Salentiny, Lukas Zwicky, Peter E Ochsner, Martin Clauss
INTRODUCTION: Total hip arthroplasty in patients with altered anatomy of the hip and femur, such as in congenital dysplasia of the hip, is challenging and often requires specially designed stems. Müller straight stems have shown excellent long-term results; however, long-term data on the analogous cemented Müller CDH stem are still missing. The aim of this study was to analyze long-term survival, identify potential risk factors for aseptic loosening, and analyze radiological outcome of the cemented Müller CDH stems...
October 2018: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/30007532/developmental-dysplasia-of-the-hip-a-special-pathology
#12
Jun Chen, Wen-Bing Zhang, Jin-Zhou He, Run Zhang, Yin-Qiang Cao, Xing Liu
Developmental dysplasia of the hip (DDH) is one of the most common congenital disorders in childhood. Its diverse pathological changes require different treatments and result in different outcomes. Although many studies have been conducted on DDH, some special pathology is still unrecognized. We here presented a rare case of a one-year and eleven-month old girl with DDH; a half-free intra-articular osteocartilaginous tissue was found in her right hip joint. X-ray, computer assisted tomography (CT) and magnetic resonance imaging (MRI) were performed to evaluate the pathological changes...
August 2018: Chinese Journal of Traumatology, Zhonghua Chuang Shang za Zhi
https://www.readbyqxmd.com/read/29784006/secure-corridor-for-infraacetabular-screws-in-acetabular-fracture-fixation-a-3-d-radiomorphometric-analysis-of-124-pelvic-ct-datasets
#13
Stephan Arlt, Hansrudi Noser, Andreas Wienke, Florian Radetzki, Gunther Olaf Hofmann, Thomas Mendel
BACKGROUND: Acetabular fracture surgery is directed toward anatomical reduction and stable fixation to allow for the early functional rehabilitation of an injured hip joint. Recent biomechanical investigations have shown the superiority of using an additional screw in the infraacetabular (IA) region, thereby transfixing the separated columns to strengthen the construct by closing the periacetabular fixation frame. However, the inter-individual existence and variance concerning secure IA screw corridors are poorly understood...
May 21, 2018: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/29734759/trends-in-the-prevalences-of-selected-birth-defects-in-korea-2008%C3%A2-2014
#14
Jung-Keun Ko, Dirga Kumar Lamichhane, Hwan-Cheol Kim, Jong-Han Leem
Little information is available on the prevalences of birth defects in Korea. The aims of this study were to estimate recent prevalences of selected birth defects and to analyze the prevalence trends of these defects during the period from 2008 to 2014. Prevalences were calculated for 69 major birth defects using health insurance claim data obtained from the Korea National Health Insurance Service (NHIS). Prevalence rate ratios were calculated using Poisson regression to analyze trends over the 7-year study period...
May 5, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29700810/refining-the-phenotype-associated-with-biallelic-dnajc21-mutations
#15
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of 5 unreported affected children and all individuals reported in the literature...
August 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29561460/spinal-dysraphism-and-dislocated-hip-beware-of-anomalous-sciatic-nerve-through-ilium-a-case-report
#16
Amanda T Whitaker, James Kasser, Young-Jo Kim
RATIONALE: The sciatic nerve runs a predictable course combining L4-S3 nerve roots through the true pelvis and under the greater sciatic notch. There are reports of bony protuberances from the sacrum and ilium in cases of spinal dysraphism; however advanced imaging, treatment, or outcomes are not described. There are no cases with associated fibular hemimelia in the current literature. PATIENT CONCERNS: This is a 4-year-old girl with tethered cord, acetabular dysplasia with hip subluxation, congenital short femur, anterior cruciate ligament (ACL) deficiency, and fibular hemimelia with her sciatic nerve coursing through the ilium...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29486210/whole-genome-sequencing-of-pairwise-human-subjects-reveals-dna-mutations-specific-to-developmental-dysplasia-of-the-hip
#17
Lun-Qing Zhu, Guang-Hao Su, Jin Dai, Wen-Yan Zhang, Chun-Hua Yin, Fu-Yong Zhang, Zhen-Hua Zhu, Zhi-Xiong Guo, Jian-Feng Fang, Cheng-da Zou, Xing-Guang Chen, Ya Zhang, Cai-Ying Xu, Yun-Fang Zhen, Xiao-Dong Wang
Developmental dysplasia of the hip (DDH) is a common congenital malformation characterized by mismatch in shape between the femoral head and acetabulum, and leads to hip dysplasia. To date, the pathogenesis of DDH is poorly understood and may involve multiple factors, including genetic predisposition. However, comprehensive genetic analysis has not been applied to investigate a genetic component of DDH. In the present study, 10 pairs of healthy fathers and DDH daughters were enrolled to identify genetic hallmarks of DDH using high throughput whole genome sequencing...
February 25, 2018: Genomics
https://www.readbyqxmd.com/read/29423248/capsular-augmentation-in-colonna-arthroplasty-for-the-management-of-chronic-hip-dislocation
#18
Matthew Sloan, Atul F Kamath
Colonna capsular arthroplasty represents an option for the management of chronic hip dislocation in young patients with dysplasia. In the appropriate patient, modern capsular arthroplasty procedures may provide an opportunity for hip preservation in patients with preserved femoral head cartilage and not appropriate for total hip arthroplasty. Here, we review our experience with surgical dislocation of the hip and capsular arthroplasty in a 27-year-old female with congenital hip dysplasia and chronic superior hip dislocation...
January 2018: Journal of Hip Preservation Surgery
https://www.readbyqxmd.com/read/29289447/high-riding-congenital-hip-dislocation-tha-with-unilateral-vs-bilateral-transverse-femoral-shortening-osteotomy
#19
Ata Can, Ilker A Sarikaya, Necip S Yontar, Ayse O Erdogan, Baris Gorgun, Fahri Erdogan
BACKGROUND: We argue that 1-stage bilaterally total hip arthroplasty (THA) could be acceptable in bilateral coxarthrosis because of high-riding developmental dysplasia of the hip (DDH). METHODS: Sixty-nine cases (51 patients) of high-riding DDH in patients who underwent THA from 2010 to 2013 were reviewed. Patients were divided into 2 groups: unilateral (group 1) and 1-stage bilateral surgery (group 2). The clinical measurements were the visual analog scale and Harris Hip Score...
May 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29203431/surgical-reduction-of-congenital-hip-dislocation
#20
REVIEW
C Glorion
Surgical reduction of congenital hip dislocation is technically challenging. In our practice, surgical reduction is usually reserved for patients who have failed non-operative treatment, which is the first-line strategy. However, primary surgery may be indicated if the dislocation is diagnosed late and can be performed until 8 years of age. The reduction step is crucial. It starts with painstaking exposure of the capsule. Identifying the lower part of the acetabulum is the key to accurate repositioning of the epiphysis...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
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