2,464 results match your criteria Skeletal System - Child


Decellularized skeletal muscles display neurotrophic effects in three-dimensional organotypic cultures.

Stem Cells Transl Med 2020 Jun 24. Epub 2020 Jun 24.

University College London Great Ormond Street Institute of Child Health, London, UK.

Skeletal muscle decellularization allows the generation of natural scaffolds that retain the extracellular matrix (ECM) mechanical integrity, biological activity, and three-dimensional (3D) architecture of the native tissue. Recent reports showed that in vivo implantation of decellularized muscles supports muscle regeneration in volumetric muscle loss models, including nervous system and neuromuscular junctional homing. Since the nervous system plays pivotal roles during skeletal muscle regeneration and in tissue homeostasis, support of reinnervation is a crucial aspect to be considered. Read More

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http://dx.doi.org/10.1002/sctm.20-0090DOI Listing

Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system.

Europace 2020 Jul;22(7):1119-1131

Department of Child and Adolescent Health, University Medical Center Göttingen, Robert-Koch-Straße 40, 37075 Göttingen, Germany.

Aims: The multi-C2 domain protein dysferlin localizes to the T-Tubule system of skeletal and heart muscles. In skeletal muscle, dysferlin is known to play a role in membrane repair and in T-tubule biogenesis and maintenance. Dysferlin deficiency manifests as muscular dystrophy of proximal and distal muscles. Read More

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http://dx.doi.org/10.1093/europace/euaa093DOI Listing

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.

Clin Epigenetics 2020 Jun 16;12(1):86. Epub 2020 Jun 16.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

Background: Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic features. Major (epi)genetic causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). However, IGF2, CDKN1C, HMGA2, and PLAG1 mutations infrequently cause SRS. Read More

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http://dx.doi.org/10.1186/s13148-020-00865-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298762PMC

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.

Sci Transl Med 2020 Jun;12(547)

Institute for Anatomy and Cell Biology, Ulm University, 89081 Ulm, Germany.

Heterozygous mutations of the gene encoding the postsynaptic protein SHANK3 are associated with syndromic forms of autism spectrum disorders (ASDs). One of the earliest clinical symptoms in SHANK3-associated ASD is neonatal skeletal muscle hypotonia. This symptom can be critical for the early diagnosis of affected children; however, the mechanism mediating hypotonia in ASD is not completely understood. Read More

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http://dx.doi.org/10.1126/scitranslmed.aaz3267DOI Listing
June 2020
15.843 Impact Factor

Analysis of Thyroid Hormone Receptor α-Knockout Tadpoles Reveals That the Activation of Cell Cycle Program Is Involved in Thyroid Hormone-Induced Larval Epithelial Cell Death and Adult Intestinal Stem Cell Development During Metamorphosis.

Thyroid 2020 Jul 1. Epub 2020 Jul 1.

Section on Molecular Morphogenesis, Cell Regulation and Development Affinity Group, Division of Molecular and Cellular Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.

There are two highly conserved thyroid hormone (triiodothyronine [T3]) receptor () genes, and , in all vertebrates, and the expression of but not is activated earlier than T3 synthesis during development. In human, high levels of T3 are present during the several months around birth, and T3 deficiency during this period causes severe developmental abnormalities including skeletal and intestinal defects. It is, however, difficult to study this period in mammals as the embryos and neonates depend on maternal supply of nutrients for survival. Read More

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http://dx.doi.org/10.1089/thy.2020.0022DOI Listing

Skeletal system evaluation using RTG absorptiometry in women with bone mineral density disorders.

Prz Menopauzalny 2020 Mar 27;19(1):11-17. Epub 2020 Apr 27.

Department of Maternal and Child Health, Poznan University of Medical Sciences, Poznan, Poland.

Introduction: Osteoporosis is a metabolic disease of the skeleton, characterized by decreased bone mass and abnormal microarchitecture, which contribute to an increased risk of fractures. Currently, over 200 million people are struggling with it worldwide, and therefore it is considered a social disease. Many of the affected require constant help from others, which is often associated with an increase in the cost of health care. Read More

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http://dx.doi.org/10.5114/pm.2020.95301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7258373PMC

Dietary vitamin A intakes among pregnant women attending antenatal care in health facilities in Dessie Town, North East Ethiopia.

J Hum Nutr Diet 2020 May 18. Epub 2020 May 18.

Department of Public Health, College of Medicine and Health Sciences, Wollo University, Dessie, Ethiopia.

Background: Vitamin A plays an important role in vision, cellular differentiation, embryonic development, reproduction, growth and the immune system. Women who live in developing countries face a risk of undernutrition during pregnancy as a result of poverty, poor diet quality and quantity, and a high fertility rate. This poor dietary problem could reflect the high risk of vitamin A deficiency in women. Read More

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http://dx.doi.org/10.1111/jhn.12766DOI Listing

Genetic modifiers of respiratory function in Duchenne muscular dystrophy.

Ann Clin Transl Neurol 2020 05 28;7(5):786-798. Epub 2020 Apr 28.

Department of Neurosciences DNS, University of Padova, Padova, Italy.

Objective: Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal muscle. We collected pulmonary function testing (PFT) data from a large retrospective cohort followed at Centers collaborating in the Italian DMD Network. Read More

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http://dx.doi.org/10.1002/acn3.51046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261745PMC

Treatment of Severe Kyphoscoliosis in Children with Mucopolysaccharidosis Type I (Pfaundler-Hurler Syndrome) Using the Growing Rod Technique: A Case Series with Mid-Term Results.

World Neurosurg 2020 Apr 18;139:169-174. Epub 2020 Apr 18.

Department of Orthopedics, Trauma, and Plastic Surgery, University Hospital Leipzig, Leipzig, Germany. Electronic address:

Background: Patients with mucopolysaccharidosis type I (MPS I) have a good life expectancy due to early therapeutic options, such as stem cell therapy. Stem cell therapy can prevent the progression of some skeletal malformations. In contrast, the progression of thoracolumbar kyphoscoliosis, genua vara, and hip dysplasia cannot be influenced. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.04.055DOI Listing

Follow-up of walking quality after end of growth in 28 children with bilateral cerebral palsy.

J Child Orthop 2020 Feb;14(1):41-49

Willy Taillard Laboratory of Kinesiology, Geneva University Hospitals and Geneva University, Geneva, Switzerland.

Purpose: Assessment of surgical treatments on gait in patients with bilateral cerebral palsy (CP) is often performed in short-term studies. The purpose of this study was to analyze the influence of single-event multilevel surgery (SEMLS) on long-term evolution of gait using gait deviation index (GDI) and walking speed.

Methods: In all, 28 patients with bilateral CP (Gross Motor Function Classification System I to III) with two clinical gait analyses (CGA) were included (mean age: 9. Read More

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http://dx.doi.org/10.1302/1863-2548.14.190125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043123PMC
February 2020

Dimension and Location of the Mandibular Lingula: Comparisons of Gender and Skeletal Patterns Using Cone-Beam Computed Tomography.

Biomed Res Int 2020 13;2020:2571534. Epub 2020 Feb 13.

Graduate Institute of Dental Sciences, School of Dental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

Objective: The study aimed to investigate and measure the anatomical relationship between the mandibular lingula (Li) and skeletal patterns using cone-beam computed tomography (CBCT). . In total, 72 participants (23 men and 49 women) were categorized into three groups according to their skeletal patterns (specifically, the A point-nasion-B point (ANB]) angle) as follows: Class I (0° < ANB < 4°), Class II (ANB ≥ 4°), and Class III (ANB ≤ 0°). Read More

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http://dx.doi.org/10.1155/2020/2571534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042528PMC
February 2020

Ayurvedic approach for management of Wilson's disease: A case report.

J Ayurveda Integr Med 2020 Apr - Jun;11(2):177-180. Epub 2020 Feb 7.

Department of Panchakarma, Institute for Postgraduate Teaching and Research in Ayurveda, Gujarat Ayurved University, Jamnagar, 361008, India.

Wilson's disease betides due to mutation in ATP-7B that leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney or skeletal system. The symptoms are jaundice, edema in legs, ascites, Kayser-Fleischer rings, dysarthria, dysphagia, ataxia, dyskinesia, and muscle spasticity. Current therapeutic modalities for the management of Wilson's disease include zinc, trientine, penicillamine and ammonium tetrathiomolybdate. Read More

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http://dx.doi.org/10.1016/j.jaim.2019.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329710PMC
February 2020

Spatiotemporal organization of myoclonic twitching in sleeping human infants.

Dev Psychobiol 2020 Feb 9. Epub 2020 Feb 9.

Department of Psychological and Brain Sciences, The University of Iowa, Iowa City, IA, USA.

During the perinatal period in mammals when active sleep predominates, skeletal muscles twitch throughout the body. We have hypothesized that myoclonic twitches provide unique insight into the functional status of the human infant's nervous system. However, assessments of the rate and patterning of twitching have largely been restricted to infant rodents. Read More

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http://dx.doi.org/10.1002/dev.21954DOI Listing
February 2020
3.307 Impact Factor

Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors.

Sci Rep 2020 Feb 7;10(1):2121. Epub 2020 Feb 7.

Gene Transfer Technology Group, Institute for Women's Health, University College London, London, UK.

We have previously designed a library of lentiviral vectors to generate somatic-transgenic rodents to monitor signalling pathways in diseased organs using whole-body bioluminescence imaging, in conscious, freely moving rodents. We have now expanded this technology to adeno-associated viral vectors. We first explored bio-distribution by assessing GFP expression after neonatal intravenous delivery of AAV8. Read More

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http://dx.doi.org/10.1038/s41598-020-59075-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005886PMC
February 2020
5.078 Impact Factor

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

Int J Mol Sci 2020 Feb 2;21(3). Epub 2020 Feb 2.

Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima 7348511, Japan.

Background: Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the gene. This disorder results in marked abnormalities in bones and connective tissues, and affects multiple organs. Here, we describe the clinical course of a Japanese boy with MPS IVA who began enzyme replacement therapy (ERT) at the age of 24 months. Read More

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http://dx.doi.org/10.3390/ijms21030989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037301PMC
February 2020

Bone health in adolescents with idiopathic scoliosis.

Bone Joint J 2020 Feb;102-B(2):268-272

Department of Clinical Sciences, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden.

Aims: Idiopathic scoliosis is the most common spinal deformity in adolescents and children. The aetiology of the disease remains unknown. Previous studies have shown a lower bone mineral density in individuals with idiopathic scoliosis, which may contribute to the causation. Read More

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http://dx.doi.org/10.1302/0301-620X.102B2.BJJ-2019-1016.R1DOI Listing
February 2020

Health risk in children to fluoride exposure in a typical endemic fluorosis area on Loess Plateau, north China, in the last decade.

Chemosphere 2020 Mar 23;243:125451. Epub 2019 Nov 23.

School of Life Science, Shanxi University, Taiyuan, Shanxi, 030006, China. Electronic address:

Excessive and inadequate intake of fluoride may cause adverse effects in children, such as dental caries and dental fluorosis. This study reports the results of monitoring fluoride concentrations in drinking water from an endemic fluorosis region during the ten-year period (2008 through 2017). The fluoride concentration had a range of 0. Read More

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http://dx.doi.org/10.1016/j.chemosphere.2019.125451DOI Listing
March 2020
3.340 Impact Factor

Fanconi anemia: a single center experience of a large cohort.

Turk J Pediatr 2019 ;61(4):477-484

Divisions of Pediatric Hematology, Hacettepe University Faculty of Medicine, Ankara.

Kesici S, Ünal Ş, Kuşkonmaz B, Aytaç S, Çetin M, Gümrük F. Fanconi anemia: a single center experience of a large cohort. Turk J Pediatr 2019; 61: 477-484. Read More

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http://dx.doi.org/10.24953/turkjped.2019.04.002DOI Listing

The condition of skeletal system in pupils with hearing impairment

Wiad Lek 2019 Oct;72(10):1912-1916

Ukrainian Medical Stomatological Academy, Poltava, Ukraine

Introduction: Pathogenic link of dentofacial abnormalities with posture disturbance and vertebra deformation causes interest in researchers, because the problem of the disorder of skeletal system has an important role. Orthodontic correction of dentofacial abnormalities without treatment of skeletal apparatus is incorrect and it leads to the large number of relapses and complications and also including temporo-mandibular joint. The aim of the research was to study correlation between injuries of hard tissues of teeth, posture disorders, bite abnormalities (malocclusion) in schoolchildren with hearing disorders. Read More

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October 2019

Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy.

Gene 2020 Apr 20;733:144369. Epub 2020 Jan 20.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; Division of Genetics and Genomics, Boston Children's Hospital, Department of Neurology, Harvard Medical School, Boston, MA, USA. Electronic address:

MAP2K1 encodes mitogen-activated protein kinase 1 (MEK1). Mutations in MAP2K1 lead to continuous activation of MEK/ERK signaling pathway, giving rise to cardio-facio-cutaneous syndrome (CFCS). However, the molecular mechanisms of abnormal activation of MEK/ERK signaling pathway and the role of autophagy, if any, in manifesting CFCS in MAP2K mutants remain unclear. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144369DOI Listing

Relationship Between Sever Disease and Skeletal Maturity.

J Pediatr Orthop 2020 Feb;40(2):93-96

Division of Pediatric Orthopaedic Surgery, Case Western Reserve University, Rainbow Babies and Children's Hospital, Cleveland, OH.

Background: Sever disease is a common condition in active, growing children. This condition presents as pain in the heel and is thought to be an overuse condition of the calcaneal apophysis. There are currently no defined radiographic diagnostic criteria for evaluation of Sever disease, with radiographs generally showing normal appearance of the calcaneal apophysis. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001145DOI Listing
February 2020

Vision-based system model for detecting violence against children.

MethodsX 2020 4;7:104-108. Epub 2019 Dec 4.

Higher Institute for Applied Sciences and Technology, Syria.

We present in this paper a machine learning model for detecting violence against children. This model, which uses skeletal data acquired by depth sensors achieved a high accuracy violence detection rate of 99.03 %. Read More

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http://dx.doi.org/10.1016/j.mex.2019.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938897PMC
December 2019

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation.

Early Hum Dev 2020 Feb 31;141:104945. Epub 2019 Dec 31.

Neonatal Intensive Care Unit, AOUP "P. Giaccone", Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Via Alfonso Giordano n. 3, 90127 Palermo, Italy.

Background: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Read More

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http://dx.doi.org/10.1016/j.earlhumdev.2019.104945DOI Listing
February 2020

Comparison of Bagging and Boosting Ensemble Machine Learning Methods for Automated EMG Signal Classification.

Biomed Res Int 2019 31;2019:9152506. Epub 2019 Oct 31.

Effat University, College of Engineering, Jeddah 21478, Saudi Arabia.

The neuromuscular disorders are diagnosed using electromyographic (EMG) signals. Machine learning algorithms are employed as a decision support system to diagnose neuromuscular disorders. This paper compares bagging and boosting ensemble learning methods to classify EMG signals automatically. Read More

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http://dx.doi.org/10.1155/2019/9152506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885261PMC

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.

J Hum Genet 2020 Mar 11;65(3):345-349. Epub 2019 Dec 11.

Pediatric Endocrinology and Genetic, Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Kongjiang Road 1665, 200092, Shanghai, China.

Gaucher disease (GD) is a lysosomal storage disease caused by the deficiency of glucocerebrosidase characterized by a broad spectrum of clinical manifestations including hepatosplenomegaly, bone infiltration, and cytopenia, and even central nervous system involvement. Bone manifestations are typical of the GD-I and partially responded to mainstay therapy. Ambroxol (ABX), an approved cough-suppressant, was identified as an enzyme-enhancement agent of the residual activity of glucocerebrosidase mutants derived from different misfolding-mutations in the GBA gene. Read More

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http://dx.doi.org/10.1038/s10038-019-0704-3DOI Listing
March 2020
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EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.

Hum Genomics 2019 12 5;13(1):63. Epub 2019 Dec 5.

Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, 201102, China.

Background: Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature. Heterozygous loss of function variants of EFTUD2 was previously reported in MFDM; however, the mechanism underlying EFTUD2-associated skeletal dysplasia remains unclear.

Results: We identified a novel frameshift variant of EFTUD2 (c. Read More

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http://dx.doi.org/10.1186/s40246-019-0238-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894506PMC
December 2019

ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.

Ann Neurol 2020 02 27;87(2):217-232. Epub 2019 Dec 27.

Basic and Translational Myology Laboratory, UMR8251, University of Paris/National Center for Scientific Research, Paris, France.

Objective: Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations.

Methods: Clinical, molecular, histological, and magnetic resonance imaging studies were made in 5 families with 7 novel TRIP4 mutations. Read More

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http://dx.doi.org/10.1002/ana.25660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6980348PMC
February 2020

Relationship of Urinary Tract Infection to Lower Urinary Tract Dysfunction and Kidney Scar Formation in Children.

Int J Prev Med 2019 6;10:193. Epub 2019 Nov 6.

Department of Pediatrics, Tehran University of Medical Science, Tehran, Iran.

Background: Urinary tract infection (UTI) is the most common infection during childhood. Lower urinary tract dysfunction (LUTD) is a broad term that indicates an abnormal voiding pattern in a child without anatomical and neurological impairment. The purpose of this study was to determine the relationship between UTI and LUTD. Read More

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http://dx.doi.org/10.4103/ijpvm.IJPVM_488_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868925PMC
November 2019

Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients.

Bol Med Hosp Infant Mex 2019 ;76(6):259-264

Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.

Background: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. Read More

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http://dx.doi.org/10.24875/BMHIM.19000030DOI Listing

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

Genet Med 2020 03 25;22(3):610-621. Epub 2019 Nov 25.

Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Purpose: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis.

Methods: Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Read More

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http://dx.doi.org/10.1038/s41436-019-0698-4DOI Listing

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

JIMD Rep 2019 Nov 30;50(1):31-39. Epub 2019 Sep 30.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.

Congenital disorders of glycosylation type I (CDG-I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological abnormalities. Among others, dolichol-phosphate-mannose (DPM) is the mannose donor for N-glycosylation as well as O-mannosylation. DOLK-CDG, DPM1-CDG, DPM2-CDG, and DPM3-CDG are defects in the DPM synthesis showing both CDG-I abnormalities and reduced O-mannosylation of alpha-dystroglycan (αDG), which leads to muscular dystrophy-dystroglycanopathy. Read More

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http://dx.doi.org/10.1002/jmd2.12060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850978PMC
November 2019

Spine Growth Modulation in Early Adolescent Idiopathic Scoliosis: Prospective US FDA IDE Pilot Study of Titanium Clip-Screw Implant at Two to Five Years.

Spine Deform 2019 11;7(6):899-909

SpineForm, LLC, 4480 Lake Forest Drive, Suite 414, Cincinnati, OH 45242, USA.

Study Design: Prospective longitudinal study of growth modulation system for early adolescent idiopathic scoliosis (AIS), consecutive case series from first human use to skeletal maturity, fusion, or five years postoperation.

Objectives: Determine adverse events and curvature changes to end of study; examine factors most likely to explain variability in curve changes.

Summary Of Background: Pilot clinical safety study was performed under US Food and Drug Administration (FDA) Investigational Device Exemption (IDE). Read More

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http://dx.doi.org/10.1016/j.jspd.2019.02.008DOI Listing
November 2019

Bracing in Adolescent Idiopathic Scoliosis Trial (BrAIST): Development and Validation of a Prognostic Model in Untreated Adolescent Idiopathic Scoliosis Using the Simplified Skeletal Maturity System.

Spine Deform 2019 11;7(6):890-898.e4

3851 Katella Avenue, Suite 255, Los Alamitos, CA 90720, USA.

Study Design: Prognostic study and validation using prospective clinical trial data.

Objective: To derive and validate a model predicting curve progression to ≥45° before skeletal maturity in untreated patients with adolescent idiopathic scoliosis (AIS).

Summary Of Background Data: Studies have linked the natural history of AIS with characteristics such as sex, skeletal maturity, curve magnitude, and pattern. Read More

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http://dx.doi.org/10.1016/j.jspd.2019.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6939758PMC
November 2019

Normative Data of Pulmonary Function Tests and Radiographic Measures of Chest Development in Children Without Spinal Deformity: Is a T1-T12 Height of 22 cm Adequate?

Spine Deform 2019 11;7(6):857-864

Department of Orthopaedic Surgery, Washington University School of Medicine, 660 S Euclid Avenue, St. Louis, MO, 63110, USA. Electronic address:

Study Design: Retrospective case series.

Objectives: To develop normative data of pulmonary function tests (PFTs) and radiographic measures of chest development in normal children and to determine if the prior proposed T1-T12 height of 22 cm for spinal fusion in a growing child is adequate for pulmonary function based on normative PFT values at skeletal maturity.

Summary Of Background Data: Shortening of the spine from T1-T12 is a concern with early thoracic fusion for spinal deformity, as it has a deleterious effect on the development of the pulmonary system. Read More

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http://dx.doi.org/10.1016/j.jspd.2019.01.010DOI Listing
November 2019

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Horm Res Paediatr 2019 12;92(2):115-123. Epub 2019 Nov 12.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil,

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by dysmorphic facial features, short stature, and expressive language delay.

Objective: The aim of this study was to describe a cohort of patients with FHS and review the literature about the response to recombinant human growth hormone (rhGH) therapy.

Methods: Anthropometric and laboratory data from 7 patients with FHS were described. Read More

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http://dx.doi.org/10.1159/000503782DOI Listing

[Survey assesment of vitamin D and calcium dietary intake in children with somatic pathology].

Vopr Pitan 2019;88(5):53-62. Epub 2019 Sep 19.

I. Horbachevsky Ternopil National Medical Univetsity, Ternopol, Ukraine.

Vitamin D and calcium play a key role not only in maintaining skeletal integrity, but are also important in the functioning of other systems of the human body. of the study is to evaluate the dietary intake of calcium and vitamin D in the children with different somatic pathologies (gastroenterological and endocrine) and its impact on somatic health indicators. . Read More

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http://dx.doi.org/10.24411/0042-8833-2019-10054DOI Listing

7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.

Epilepsy Res 2019 12 1;158:106223. Epub 2019 Nov 1.

Pediatrics and Pediatric Emergency Complex Unity, University-Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.

Introduction: Duplication of long arm of chromosome 7(q) is uncommon. It may occur as "pure", isolated anomaly or in association with other mutations involving the same or other chromosomes. "Pure" chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106223DOI Listing
December 2019

Hematopoietic stem cell transplantation-induced bone remodeling in autosomal recessive osteopetrosis: Interaction between skeleton and hematopoietic and sensory nervous systems.

Bone 2020 Jan 6;130:115144. Epub 2019 Nov 6.

Division of Bone and Mineral Diseases, Department of Medicine, Washington University School of Medicine, 660 S. Euclid Ave, CB 8301, St. Louis, MO 63110, USA. Electronic address:

Objective: Autosomal recessive osteopetrosis (ARO) is a rare congenital disorder of defective bone resorption. The inability of osteoclasts to resorb bone compromises the development of bone marrow cavity, and ultimately, leads to defective hematopoiesis and death within the first decade. The only curative treatment currently available for certain forms of ARO is hematopoietic stem cell transplantation (HSCT). Read More

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http://dx.doi.org/10.1016/j.bone.2019.115144DOI Listing
January 2020

Identification through dental age estimation in skeletal remains of a child.

J Forensic Dent Sci 2019 Jan-Apr;11(1):48-50

Department of Forensic Medicine and Toxicology, I.G.M.C., Shimla, Himachal Pradesh, India.

The analysis of skeletal remains opens the portal of scientific truth that enables the justice system to discover the facts and circumstances surrounding criminal acts. There is definite role of forensic odontology in identification and determination of dental age of skeletal remains (mandible), especially when visual identification and fingerprints cannot be used. Here, we present a case of a missing boy whose skeletal remains were recovered from a water tank. Read More

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http://dx.doi.org/10.4103/jfo.jfds_79_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822310PMC
November 2019

Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.

Clin Rheumatol 2020 Feb 18;39(2):553-560. Epub 2019 Oct 18.

Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

Background: Axial and extra-axial deceleration in function and progressive joint pain with subsequent development of antalgic gait associated with swellings, and stiffness of the joints with loss of the physiological spine biomechanics were the natural history in this group of patients. Clinical and radiological phenotypes have been analysed carefully to further understand the aetiology behind.

Methods: Seven patients (three children around the age of 9-11 and one child of 17 years old). Read More

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http://dx.doi.org/10.1007/s10067-019-04783-zDOI Listing
February 2020
5 Reads
1.774 Impact Factor

The Proximal Humeral Ossification System Improves Assessment of Maturity in Patients with Scoliosis.

J Bone Joint Surg Am 2019 Oct;101(20):1868-1874

Division of Orthopaedics and Scoliosis, Texas Children's Hospital, Houston, Texas.

Background: We recently developed a classification system to assess skeletal maturity by scoring proximal humeral ossification in a similar way to the canonical Risser sign. The purpose of the present study was to determine whether our system can be used to reliably assess radiographs of the spine for modern patients with idiopathic scoliosis, whether it can be used in combination with the Sanders hand system, and whether the consideration of patient factors such as age, sex, and standing height improves the accuracy of predictions.

Methods: We retrospectively reviewed 414 randomized radiographs from 216 modern patients with scoliosis and measured reliability with use of the intraclass correlation coefficient (ICC). Read More

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http://dx.doi.org/10.2106/JBJS.19.00296DOI Listing
October 2019
1 Read

Skeletal evidence for violent trauma from the bronze age Qijia culture (2,300-1,500 BCE), Gansu Province, China.

Int J Paleopathol 2019 12 10;27:66-79. Epub 2019 Oct 10.

School of Humanities, Nanyang Technological University, 48 Nanyang Avenue, Singapore 639818. Electronic address:

This research explores how social and environmental factors may have contributed to conflict during the early Bronze Age in Northwest China by analyzing violent trauma on human skeletal remains from a cemetery of the Qijia culture (2300-1500 BCE). The Qijia culture existed during a period of dramatic social, technological, and environmental change, though minimal research has been conducted on how these factors may have contributed to violence within the area of the Qijia and other contemporaneous material cultures. An osteological assessment was conducted on 361 individuals (n = 241 adults, n = 120 non-adults) that were excavated from the Mogou site, Lintan County, Gansu, China. Read More

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http://dx.doi.org/10.1016/j.ijpp.2019.08.002DOI Listing
December 2019
2 Reads

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.

Med Sci Monit 2019 Oct 11;25:7634-7644. Epub 2019 Oct 11.

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China (mainland).

BACKGROUND Lysosomal storage diseases (LSDs), a group of rare inherited metabolic disorders, result from specific lysosomal proteins deficiencies in the degradation of biomacromolecule, including over 70 different diseases, most of which are autosomal recessive. LSDs are multisystem disorders, and the clinical manifestations are usually broad and severe, involving the skeletal system, central nervous system (CNS), cardiovascular system, etc. Besides, patients with some subtypes of LSD have distinctive facial features. Read More

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http://dx.doi.org/10.12659/MSM.915876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6800466PMC
October 2019
1 Read

[A case of Antley-Bixler syndrome caused by novel POR mutations].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Oct;36(10):1025-1027

Center of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410000, China.

Objective: To explore the genetic basis for a child affected with multiple malformations.

Methods: Genomic DNA was extracted from peripheral blood samples from the child and her parents. Tro whole exome sequencing and bioinformatics analysis were carried out. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.10.019DOI Listing
October 2019

FDG PET/CT Image for a Rosai-Dorfman Disease With Pituitary and Bone Involvement in a Pediatric Patient.

Clin Nucl Med 2019 Nov;44(11):873-875

Nuclear Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare nonneoplastic histiocytic disorder that often involves the lymph nodes and occasionally the central nervous system or skeleton. However, the presence of extranodal Rosai-Dorfman lesions without lymphadenopathy is extremely rare. Here we present a case of a pathological confirmed Rosai-Dorfman disease with pituitary and skeletal involvement without lymph nodes involvement. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002776DOI Listing
November 2019

First Validation of the Full PROMIS Pain Interference and Pain Behavior Item Banks in Patients with Rheumatoid Arthritis.

Arthritis Care Res (Hoboken) 2019 Sep 28. Epub 2019 Sep 28.

Amsterdam Rehabilitation Research Center , Reade, Amsterdam, The Netherlands.

Objectives: Pain interference and pain behavior are highly relevant outcomes in patients with rheumatoid arthritis (RA). The Patient-Reported Outcomes Measurement Information System (PROMIS ) is a universally applicable set of item-banks measuring patient-reported health, and, if applied as computerized adaptive tests (CATs), more efficiently and precisely than current instruments. The objective was to study the psychometric properties of the Dutch-Flemish PROMIS Pain Interference (PROMIS-PI) and the PROMIS Pain Behavior (PROMIS-PB) item-banks in patients with RA. Read More

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http://dx.doi.org/10.1002/acr.24077DOI Listing
September 2019
4 Reads

Maturation-related changes in the development and etiology of neuromuscular fatigue.

Eur J Appl Physiol 2019 Dec 27;119(11-12):2545-2555. Epub 2019 Sep 27.

Laboratoire AME2P (EA 3533), Université Clermont Auvergne, 63000, Clermont-Ferrand, France.

Purpose: The aim of the present study was to investigate the role of maturation on the etiology of neuromuscular fatigue induced by repeated maximal voluntary isometric contractions (MVIC).

Methods: Nine prepubertal boys (9.9 ± 1. Read More

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http://dx.doi.org/10.1007/s00421-019-04233-3DOI Listing
December 2019

Argon plasma modification promotes adipose derived stem cells osteogenic and chondrogenic differentiation on nanocomposite polyurethane scaffolds; implications for skeletal tissue engineering.

Mater Sci Eng C Mater Biol Appl 2019 Dec 26;105:110085. Epub 2019 Aug 26.

Stem Cells and Regenerative Medicine Section, UCL Institute of Child Health, University College London, London WC1N 1EH, United Kingdom. Electronic address:

Bone and cartilage craniofacial defects due to trauma or congenital deformities pose a difficult problem for reconstructive surgeons. Human adipose stem cells (ADSCs) can differentiate into bone and cartilage and together with suitable scaffolds could provide a promising system for skeletal tissue engineering. It has been suggested that nanomaterials can direct cell behavior depending on their surface nanotopographies. Read More

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http://dx.doi.org/10.1016/j.msec.2019.110085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892254PMC
December 2019
1 Read
3.088 Impact Factor