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Congenital deformity

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https://www.readbyqxmd.com/read/28523278/chondrocyte-specific-knockout-of-tsc-1-leads-to-congenital-spinal-deformity-in-mice
#1
Cheng Yang, Yuhui Chen, Zhen Li, He Cao, Keming Chen, Pinglin Lai, Bo Yan, Bin Huang, Jiajun Tang, Shicai Fan, Daozhang Cai, Dadi Jin, Xiaochun Bai, Rongping Zhou
Congenital spinal deformity is the most severe clinical orthopedic issue worldwide. Among all the pathological processes of congenital spinal deformity, the imbalance of endochondral ossification is considered to be the most important developmental cause of spinal dysplasia. We established chondrocyte-specific TSC-1 knockout (KO) mice to overactivate the energy metabolic component, mammalian target of rapamycin complex 1 (mTORC1), and measured the spinal development by general, imaging, histological, and Western-blot assessments...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28513506/surgical-difficulties-success-and-complication-rates-of-orthodontic-miniplate-anchorage-systems-experience-with-382-miniplates
#2
Y Findik, T Baykul, E Esenlik, M H Turkkahraman
PURPOSE: The aim of this study was to evaluate the complications and success rates of the miniplates using both maxilla and mandible for orthodontic anchorage in growing patients. MATERIALS AND METHODS: One hundred and fifty-five consecutive patients (range 8.7-13.8 years) with Class II and III malocclusion without congenital or acquired deformities were included in this study. A total of 382 titanium miniplates were placed by the same surgeon. All miniplates were inserted under local anesthesia...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28497452/an-attempt-to-throw-light-on-congenital-hip-disease-terminology-and-anticipation-of-clinical-outcomes-when-treated-with-total-hip-arthroplasty
#3
George Hartofilakidis, Kalliopi Lampropoulou-Adamidou, Theofilos S Karachalios
The terminology of the wide spectrum of hip deformities seen during the neonatal, infantile and adult life period remains controversial, mainly due to the indiscriminate use of the terms dysplasia, subluxation, congenital hip disease, developmental hip disease, congenital dislocation, etc. This has a serious implication on the anticipation of clinical outcomes, complications and comparison of different reconstructive techniques when these patients are treated with total hip arthroplasty in adulthood. Journals, specialising in this field, should publish homogeneous series (type of the disease, reconstruction technique, implants) in order to clarify arguments and anticipate clinical outcomes...
May 8, 2017: Hip International: the Journal of Clinical and Experimental Research on Hip Pathology and Therapy
https://www.readbyqxmd.com/read/28495245/massive-parallel-sequencing-identifies-rapsn-and-pdha1-mutations-causing-fetal-akinesia-deformation-sequence
#4
Lore Winters, Evelien Van Hoof, Luc De Catte, Kris Van Den Bogaert, Thomy de Ravel, Liesbeth De Waele, Anniek Corveleyn, Jeroen Breckpot
INTRODUCTION: Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting. METHODS: An in-house developed disease-associated gene panel was conducted in two unrelated fetuses with FADS...
April 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28493074/corrective-osteotomies-of-the-lower-limb-show-a-low-intra-and-perioperative-complication-rate-an-analysis-of-1003-patients
#5
Maximilian Schenke, Jörg Dickschas, Michael Simon, Wolf Strecker
PURPOSE: The purpose of corrective osteotomies in posttraumatic and congenital deformities is anatomic limb reconstruction and joint preservation. The aim of the present study was to analyse intra- and perioperative complications of osteotomies in the lower limb. METHODS: One thousand and three unselected and prospectively registered osteotomies of the long bones of the lower limb, performed between 1995 and 2013, were analysed. In 435 women and 568 men (mean age 39...
May 10, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28488459/classification-of-congenital-anomalies-of-the-hand-and-upper-limb
#6
M A Tonkin
The Oberg, Manske, Tonkin Classification of congenital anomalies of the hand and upper limb utilizes dysmorphological concepts to distinguish Malformations from Deformations and Dysplasias. Malformations are abnormalities of Formation and/or Differentiation of tissues. Deformations are abnormalities which occur after tissue is formed. Dysplasias are abnormalities which result from a lack of normal organization of cells into tissue. Malformations are sub-grouped according to whether the abnormality affects the hand alone or the whole of the upper limb; and according to which, if any, of the three main axes of development are primarily involved...
February 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28481811/trochanteric-entry-for-femoral-lengthening-nails-in-children-is-it-safe
#7
Ahmed I Hammouda, Julio J Jauregui, Martin G Gesheff, Shawn C Standard, John E Herzenberg
BACKGROUND: Antegrade intramedullary (IM) nailing for skeletally immature femur fractures can damage the capital femoral epiphysis blood supply, leading to avascular necrosis (AVN) of the femoral head. Reported AVN rates are 2% for piriformis entry and 1.4% for trochanteric entry. None of previous reports described IM lengthening nails for limb lengthening procedures. We have used self-lengthening telescopic nails with a proximal Herzog bend and standard trochanteric entry for femoral lengthening in children...
June 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28476907/congenital-talipes-equinovarus-and-congenital-vertical-talus-secondary-to-sacral-agenesis
#8
Jonathan James Hyett Bray, Sebastien Crosswell, Rick Brown
Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet...
May 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28468144/microvascular-tissue-transfers-for-midfacial-and-anterior-cranial-base-reconstruction
#9
Ali Emre Aksu, Hakan Uzun, Ozan Bitik, Gökhan Tunçbilek, Tunç Şafak
Reconstruction of a midfacial defect can represent a difficult challenge for the plastic surgeon. Although many midfacial deformities have traumatic or congenital origins, the vast majority of head and neck defects occur after resection of malignant head and neck neoplasms. Autogenous reconstruction is now routinely performed for larger, complex defects resulting from surgical resection or trauma. In this study, the authors present 27 patients with midfacial defects reconstructed with free flaps. Twenty-two of the defects were created by surgical ablation of cancer (maxillectomy) and the others were traumatic...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28464755/limb-lengthening-and-deformity-correction-of-congenital-and-acquired-deformities-in-children-using-the-taylor-spatial-frame
#10
Joachim Horn, Harald Steen, Stefan Huhnstock, Ivan Hvid, Ragnhild B Gunderson
Background and purpose - Hexapod ring fixators such as the Taylor Spatial Frame (TSF) have shown good outcomes. However, there have only been a few studies comparing the use of TSF with various etiologies of the deformity. We compared the use of TSF in congenital and acquired deformities in children. Patients and methods - We reviewed 213 lower extremity reconstructive procedures with the TSF in 192 patients who were operated between October 2000 and October 2015. 128 procedures (67 proximal tibiae, 51 distal femora, and 10 distal tibiae) in 117 children (median age 14 (4-18) years; 59 girls) fulfilled the inclusion criteria...
June 2017: Acta Orthopaedica
https://www.readbyqxmd.com/read/28463628/microcomputed-tomographic-morphometric-and-histopathologic-assessment-of-congenital-bone-malformations-in-two-neotropical-viperids
#11
Marcelo Pires Nogueira de Carvalho, Sávio Stefanini Sant'Anna, Kathleen Fernandes Grego, Ana Carolina Brandão de Campos Fonseca-Pinto, Carla Aparecida Batista Lorigados, Nicolle Gilda Teixeira Queiroz-Hazarbassanov, José Luiz Catão-Dias
Congenital malformations have been reported in all classes of vertebrates and may be a determinant of life span and survival. In reptiles, the incidence of congenital malformations can be associated with genetic and environmental causes, including pollution. The characterization of pathological processes involved in the development of congenital malformations of bone in snakes is rare in the literature, but is of great relevance in the field of reptile conservation and environmental health. We describe congenital bone lesions in 50 newborn jararaca (Bothrops jararaca) and 26 South American rattlesnakes (Crotalus durissus terrificus) born from wild-caught pregnant females in Southeastern Brazil...
May 2, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28457190/exosome-like-vesicles-derived-from-adipose-tissue-provide-biochemical-cues-for-adipose-tissue-regeneration
#12
Minjia Dai, Mei Yu, Yan Zhang, Weidong Tian
There is an emerging need for soft tissue replacements in the field of reconstructive surgery for the treatment of congenital deformities, posttraumatic repair, and cancer rehabilitation. Previous studies have shown that the bioactive adipose tissue extract can induce adipogenesis without additional stem cells or growth factors. In this study, we innovatively investigated whether exosome-like vesicles derived from adipose tissue (ELV-AT) could direct stem cell differentiation and trigger adipose tissue regeneration...
May 17, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28454037/agricultural-expansion-as-risk-to-endangered-wildlife-pesticide-exposure-in-wild-chimpanzees-and-baboons-displaying-facial-dysplasia
#13
Sabrina Krief, Philippe Berny, Francis Gumisiriza, Régine Gross, Barbara Demeneix, Jean Baptiste Fini, Colin A Chapman, Lauren J Chapman, Andrew Seguya, John Wasswa
Prenatal exposure to environmental endocrine disruptors can affect development and induce irreversible abnormalities in both humans and wildlife. The northern part of Kibale National Park, a mid-altitude rainforest in western Uganda, is largely surrounded by industrial tea plantations and wildlife using this area (Sebitoli) must cope with proximity to human populations and their activities. The chimpanzees and baboons in this area raid crops (primarily maize) in neighboring gardens. Sixteen young individuals of the 66 chimpanzees monitored (25%) exhibit abnormalities including reduced nostrils, cleft lip, limb deformities, reproductive problems and hypopigmentation...
April 25, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28453112/-trend-and-causes-of-infant-mortality-in-border-areas-in-colombia-from-2005-to-2011
#14
Sonia C Mogollón-Pastrán, Juan C García-Ubaque
Objective: To evaluate the registered trends and main causes of Infant Mortality (IM) in border areas of Colombia between 2005 and 2011. Methodology: Ecological study in border areas, developed from the analysis of institutional information on IM and its causes, using the list of leading causes of death of infants and children by the WHO. For analysis, descriptive statistics and cluster analysis techniques were measured using Excel and the R-Project processing software...
September 2016: Revista de Salud Pública
https://www.readbyqxmd.com/read/28450991/-poland-syndrome-about-a-case-and-review-of-the-literature
#15
Meriam Benzalim, Laila Berghalout, Sophia Elfakir, Hicham Jalal
Poland syndrome is a rare congenital malformation associated with various degrees of thoracic and homolateral upper limb abnormalities. We report the case of a 7-year old girl who underwent exploration for depression of the left hemithorax associated with homolateral subclavicular mass. CT scan showed that the deformation of the thoracic wall was related to the absence of left pectoralis major muscle sterno-costal heads insertion associated with agenesis of the pectoralis minor muscle and hypoplasia of the anterior arches of the first six corresponding ribs...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28448015/quantification-of-strain-in-a-porcine-model-of-skin-expansion-using-multi-view-stereo-and-isogeometric-kinematics
#16
Adrian Buganza Tepole, Elbert E Vaca, Chad A Purnell, Michael Gart, Jennifer McGrath, Ellen Kuhl, Arun K Gosain
Tissue expansion is a popular technique in plastic and reconstructive surgery that grows skin in vivo for correction of large defects such as burns and giant congenital nevi. Despite its widespread use, planning and executing an expansion protocol is challenging due to the difficulty in measuring the deformation imposed at each inflation step and over the length of the procedure. Quantifying the deformation fields is crucial, as the distribution of stretch over time determines the rate and amount of skin grown at the end of the treatment...
April 16, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28443277/pediatric-hand-surgery-training-in-nicaragua-a-sustainable-model-of-surgical-education-in-a-resource-poor-environment
#17
Mary Claire B Manske, Jairo J Rios Roque, Gabriel Ramos Zelaya, Michelle A James
Recent reports have demonstrated that nearly two-thirds of the world's population do not have access to adequate surgical care, a burden that is borne disproportionately by residents of resource-poor countries. Although the reasons for limited access to surgical care are complex and multi-factorial, among the most substantial barriers is the lack of trained surgical providers. This is particularly true in surgical subspecialties that focus on life-improving, rather than life-saving, treatments, such as pediatric hand and upper extremity surgery, which manages such conditions as congenital malformations, trauma and post-traumatic deformities including burns, and neuromuscular conditions (brachial plexus birth palsy, spinal cord injury, and cerebral palsy)...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#18
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28437496/novel-solution-for-massive-glenoid-defects-in-shoulder-arthroplasty-a-patient-specific-glenoid-vault-reconstruction-system
#19
David M Dines, Lawrence Gulotta, Edward V Craig, Joshua S Dines
Complex glenoid deformities present the most difficult challenges in shoulder arthroplasty. These deformities may be caused by severe degenerative or congenital deformity, posttraumatic anatomy, tumor, or, in most cases, bone loss after glenoid failure in anatomical total shoulder arthroplasty. Methods of treating severe bone loss have included inlay and onlay bone-graft options with augmented fixation and, in severe cases, salvage hemiarthroplasty with limited goal expectations. Unfortunately, none of these methods has provided consistently satisfactory reproducible results...
March 2017: American Journal of Orthopedics
https://www.readbyqxmd.com/read/28437357/the-effect-of-concomitant-rib-deformity-in-congenital-scoliosis-on-spinal-curve-correction-after-segmental-pedicle-screw-instrumentation
#20
Ebrahim Ameri, Daniel F Fouladi, Mir Bahram Safari, Hossein Vahid Tari, Hassan Ghandhari
STUDY DESIGN: A single-center, prospective study. OBJECTIVE: To investigate the effect of rib anomaly on surgical curve correction outcome in congenital scoliosis. SUMMARY OF BACKGROUND DATA: The presence of rib anomalies may complicate surgical correction of congenital scoliosis. The outcome of surgical correction, however, has not been documented in scoliotic patients with and without rib deformity. METHODS: Percent Cobb angle decrease (CAD) after operation was calculated in 94 patients with congenital scoliosis...
May 2017: Clinical Spine Surgery
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