2,595 results match your criteria Skeletal System - Child

Genetic causes of fractures and subdural hematomas: fact versus fiction.

Pediatr Radiol 2021 May 17;51(6):1029-1043. Epub 2021 May 17.

George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

Genetic disorders are in the differential diagnosis when young children present with unexplained fractures or intracranial hemorrhage. For medical and legal reasons, it is imperative to make the correct diagnosis and provide clear, evidence-based explanations of how alternative diagnoses were ruled out. A genetics consultation in cases of suspected child physical abuse should synthesize the history of present illness, medical history, family history, physical examination, and radiologic and laboratory findings in consultation with other specialists. Read More

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Maternal exercise during pregnancy modulates mitochondrial function and redox status in a sex-dependent way in adult offspring's skeletal muscle.

J Dev Orig Health Dis 2021 May 5:1-8. Epub 2021 May 5.

Programa de Pós-Graduação em Ciências Biológicas - Bioquímica, Departamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Maternal exercise has shown beneficial effects on mother and child. Literature confirm progeny's cognition improvement, and upregulation in neurotrophins, antioxidant network, and DNA repair system. Considering that there is a lack of information demonstrating the impact of maternal exercise on offspring's skeletal muscle, we aimed to investigate the mitochondrial and redox effects elicited by maternal swimming. Read More

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RANKL regulates male reproductive function.

Nat Commun 2021 04 23;12(1):2450. Epub 2021 Apr 23.

Department of Growth and Reproduction and International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Infertile men have few treatment options. Here, we demonstrate that the transmembrane receptor activator of NF-kB ligand (RANKL) signaling system is active in mouse and human testis. RANKL is highly expressed in Sertoli cells and signals through RANK, expressed in most germ cells, whereas the RANKL-inhibitor osteoprotegerin (OPG) is expressed in germ and peritubular cells. Read More

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Local diagnostic reference levels for skeletal surveys in suspected physical child abuse.

Radiography (Lond) 2021 05 21;27(2):425-429. Epub 2020 Oct 21.

Department of Radiology, Odense University Hospital, Denmark; Research and Innovation Unit, University of Southern, Denmark.

Introduction: The purpose was to determine if an age based, local diagnostic reference level for paediatric skeletal surveys could be established using retrospective data.

Methods: All children below two years of age referred for a primary skeletal survey as a result of suspected physical abuse during 2017 or 2018 (n = 45) were retrospectively included from a large Danish university hospital. The skeletal survey protocol included a total of 33 images. Read More

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Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Mol Biol Rep 2021 Mar 19;48(3):2093-2104. Epub 2021 Mar 19.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.

Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the large subunit of the mitochondrial ribosome, have been identified in four patients with OXPHOS defects and early-onset hypertrophic cardiomyopathy with or without additional clinical features. A 23-year-old individual with cardiac and skeletal myopathy, neurological involvement, and combined deficiency of OXPHOS complexes in skeletal muscle was clinically and genetically investigated. Read More

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A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report.

Exp Ther Med 2021 Apr 1;21(4):311. Epub 2021 Feb 1.

Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.

Cranioectodermal dysplasia (CED) or Sensenbrenner syndrome is a very rare autosomal-recessive disease that is characterized by craniofacial, skeletal and ectodermal abnormalities. The proteins encoded by six CED-associated genes are members of the intraflagelline transport (IFT) system, which serves an essential role in the assembly, maintenance and function of primary cilia. The current study identified compound novel heterozygous (NM_052985. Read More

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De novo Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.

J Med Genet 2021 Mar 8. Epub 2021 Mar 8.

Department of Oral Surgery and Pathology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

Background: Pathogenic germline variants in ransient eceptor otential anilloid 4 ation hannel () lead to channelopathies, which are phenotypically diverse and heterogeneous disorders grossly divided in neuromuscular disorders and skeletal dysplasia. We recently reported in sporadic giant cell lesions of the jaws (GCLJs) novel, somatic, heterozygous, gain-of-function mutations in , at Met713.

Methods: Here we report two unrelated women with a de novo germline p. Read More

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Lipid Mixing Assay for Murine Myoblast Fusion and Other Slow Cell-cell Fusion Processes.

Bio Protoc 2020 Mar 5;10(5):e3544. Epub 2020 Mar 5.

Section on Membrane Biology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

Lipid mixing (redistribution of lipid probes between fusing membranes) has been widely used to study early stages of relatively fast viral and intracellular fusion processes that take seconds to minutes. Lipid mixing assays are especially important for identification of hemifusion intermediates operationally defined as lipid mixing without content mixing. Due to unsynchronized character and the slow rate of the differentiation processes that prime the cells for cell-cell fusion processes in myogenesis, osteoclastogenesis and placentogenesis, these fusions take days. Read More

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Oropharyngeal 3-dimensional changes after maxillary expansion with 2 different orthodontic approaches.

Am J Orthod Dentofacial Orthop 2021 Mar;159(3):352-359

Faculty of Medicine and Dentistry, School of Dentistry, University of Alberta, Alberta, Canada, University of Texas Health Science at San Antonio, San Antonio, Tex.

Introduction: The objective of this research was to compare the oropharyngeal volume and minimal cross-sectional area (MCA) changes after maxillary expansion using either the Damon system or Hyrax appliances as assessed through cone-beam computed tomography (CBCT) imaging.

Methods: Patients aged between 11 and 17 years with skeletal maxillary transverse discrepancy in need of maxillary expansion were included and allocated randomly into 1 of the 2 treatment groups, Damon or Hyrax. Patients underwent CBCT imaging at 2 time points: T1, after initial clinical evaluation before treatment, and T2, after completion of full orthodontic treatment. Read More

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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).

Autophagy 2021 Jan 8;17(1):1-382. Epub 2021 Feb 8.

University of Crete, School of Medicine, Laboratory of Clinical Microbiology and Microbial Pathogenesis, Voutes, Heraklion, Crete, Greece; Foundation for Research and Technology, Institute of Molecular Biology and Biotechnology (IMBB), Heraklion, Crete, Greece.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Read More

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January 2021

Highly sensitive screening of antisense sequences for different types of DMD mutations in patients' urine-derived cells.

J Neurol Sci 2021 04 15;423:117337. Epub 2021 Feb 15.

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address:

Exon skipping using short antisense oligonucleotides (AONs) is a promising treatment for Duchenne muscular dystrophy (DMD). Several exon-skipping drugs, including viltolarsen (NS-065/NCNP-01), have been approved worldwide. Immortalized human skeletal muscle cell lines, such as rhabdomyosarcoma cells, are frequently used to screen efficient oligonucleotide sequences. Read More

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Systemic autoinflammatory disease in adults.

Autoimmun Rev 2021 Apr 17;20(4):102774. Epub 2021 Feb 17.

Department of General Internal Medicine, University Hospitals Leuven, Leuven, Belgium; KU Leuven, Department of Microbiology, Immunology, and Transplantation, Laboratory of Clinical Infectious and Inflammatory Disorders, Leuven, Belgium.

Systemic autoinflammatory disorders comprise an expanding group of rare conditions. They are mediated by dysfunction of the innate immune system and share a core of phenotypic manifestations including recurrent attacks of fever, cutaneous signs, chest or abdominal pain, lymphadenopathy, vasculopathy, and musculoskeletal symptoms. Diagnosis is often established in childhood, but a growing number of adult patients are being recognized with systemic autoinflammatory disorders, including adult-onset disease. Read More

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Early Childhood Scoliosis Management by Vertical Expandable Prosthetic Titanium Rib (VEPTR): Experience of Royal Medical Services (RMS).

Med Arch 2020 Dec;74(6):433-438

Royal Medical Services (RMS), Amman, Jordan.

Introduction: Scoliosis could develop at the childhood age and progress beyond skeletal maturity. An early spinal fusion arrests growth of the spine and thorax, risking the development of secondary thoracic insufficiency syndrome. Vertical expandable prosthetic titanium rib (VEPTR) is a fusionless technique aiming to correct the deformity with preservation of growth potential. Read More

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December 2020

Common questions and misconceptions about creatine supplementation: what does the scientific evidence really show?

J Int Soc Sports Nutr 2021 Feb 8;18(1):13. Epub 2021 Feb 8.

The Center for Applied Health Sciences, Canfield, Ohio, USA.

Supplementing with creatine is very popular amongst athletes and exercising individuals for improving muscle mass, performance and recovery. Accumulating evidence also suggests that creatine supplementation produces a variety of beneficial effects in older and patient populations. Furthermore, evidence-based research shows that creatine supplementation is relatively well tolerated, especially at recommended dosages (i. Read More

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February 2021

Clinical utility of the over-ground bodyweight-supporting walking system Andago in children and youths with gait impairments.

J Neuroeng Rehabil 2021 02 8;18(1):29. Epub 2021 Feb 8.

Research Department, Swiss Children's Rehab, University Children's Hospital Zurich, Mühlebergstrasse 104, 8910, Affoltern am Albis, Switzerland.

Background: The Andago is a rehabilitation robot that allows training walking over-ground while providing bodyweight unloading (BWU). We investigated the practicability, acceptability, and appropriateness of the device in children with gait impairments undergoing neurorehabilitation. Concerning appropriateness, we investigated whether (i) stride-to-stride variability of the stride time and inter-joint coordination was higher when walking over-ground in Andago versus treadmill walking, and (ii) activation of antigravity leg muscles decreased with higher levels of BWU. Read More

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February 2021

Review highlights the latest research in Kingella kingae and stresses that molecular tests are required for diagnosis.

Pablo Yagupsky

Acta Paediatr 2021 06 8;110(6):1750-1758. Epub 2021 Feb 8.

Clinical Microbiology Laboratory, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Aim: The aim of this study was to provide an update on paediatric Kingella kingae infections.

Methods: We used the PubMed database to identify studies published in English, French and Spanish up to 15 November 2020.

Results: Kingella kingae colonised the oropharynx after the age of 6 months, and the mucosal surface was the portal of entry of the organism to the bloodstream and the source of child-to-child spread. Read More

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Tendon release reduced joint stiffness with unaltered leg stiffness during gait in spastic diplegic cerebral palsy.

PLoS One 2021 15;16(1):e0245616. Epub 2021 Jan 15.

Department of Biomedical Engineering, National Taiwan University, Taiwan, R.O.C.

Biomechanical deviations at individual joints are often identified by gait analysis of patients with cerebral palsy (CP). Analysis of the control of joint and leg stiffness of the locomotor system during gait in children with spastic diplegic CP has been used to reveal their control strategy, but the differences between before and after surgery remain unknown. The current study aimed to bridge the gap by comparing the leg stiffness-both skeletal and muscular components-and associated joint stiffness during gait in 12 healthy controls and 12 children with spastic diplegic CP before and after tendon release surgery (TRS). Read More

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Lessons Learned from Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Patients on Vitamin D Functions.

J Nutr 2021 03;151(3):473-481

Department of Pediatrics, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

We summarize here lessons learned from studies on skeletal and extra-skeletal functions of vitamin D in hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) patients with a mutant, nonfunctioning vitamin D receptor (VDR). During childhood, HVDRR patients are dependent on intestinal VDR, demonstrate low intestinal fraction calcium absorption, and have a bone calcium accretion rate that leads to hypocalcemia and rickets. After puberty, there is recovery in intestinal calcium absorption and in bone calcium accretion and structure. Read More

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A retrospective analysis of the optimal time and psychological impact of decoronation in children and adolescents.

Dent Traumatol 2021 Jun 7;37(3):440-446. Epub 2021 Jan 7.

Department of General Dentistry and Integrated Emergency Dental Care, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.

Background/aims: Decoronation offers one of the best and most predictable clinical outcomes for dentoalveolar ankylosis. The aim of this study was to determine the factors associated with the efficacy and psychological impact of decoronation for bone preservation.

Materials And Methods: The study included 42 paediatric patients with 42 infrapositioned replanted permanent teeth. Read More

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Biological basis of child health 6: development of the skeletal system and orthopaedic conditions.

Nurs Child Young People 2021 Jan;33(1):32-42

Children's nursing, School of Health and Social Care, London South Bank University, London, England.

This article is the sixth in a series on the biological basis of child health. It provides an overview of the development of the skeletal system before and after birth, and outlines the potential congenital anomalies that may occur. The article explains the structure and function of the bones before describing the role of the joints, tendons and ligaments. Read More

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January 2021

Skeletal muscle maximal mitochondrial activity in ambulatory children with cerebral palsy.

Dev Med Child Neurol 2021 Jan 3. Epub 2021 Jan 3.

Department of Orthopaedic Surgery, University of California, San Diego, CA, USA.

Aim: To compare skeletal muscle mitochondrial enzyme activity and mitochondrial content between independently ambulatory children with cerebral palsy (CP) and typically developing children.

Method: Gracilis biopsies were obtained from 12 children during surgery (n=6/group, children with CP: one female, five males, mean age 13y 4mo, SD 5y 1mo, 4y 1mo-17y 10mo; typically developing children: three females, three males, mean age 16y 5mo, SD 1y 4mo, 14y 6mo-18y 2mo). Spectrophotometric enzymatic assays were used to evaluate the activity of mitochondrial electron transport chain complexes. Read More

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January 2021

Ciliopathies: Coloring outside of the lines.

Am J Med Genet A 2021 03 25;185(3):687-694. Epub 2020 Dec 25.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known to display certain phenotypic overlap. We performed next-generation sequencing panel testing, clinical exome sequencing, and research-based exome sequencing reanalysis on patients with suspected ciliopathy syndromes with additional features. Read More

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Retrospective analysis of clinical outcomes in bilateral cleft lip and palate patients after secondary alveolar bone grafting and premaxilla osteotomy, using a new dento-maxillary scoring system.

J Craniomaxillofac Surg 2021 Feb 15;49(2):110-117. Epub 2020 Dec 15.

Department of Oral and Maxillofacial Surgery, Utrecht University, Heidelberglaan 100, PO Box 85500, 3508 AB, Utrecht, the Netherlands.

Evaluation of relevant clinical outcomes in patients with bilateral cleft lip and palate (BCLP) after secondary aveolar bone grafting (SABG) and premaxilla osteotomy (PMO), through the use of a new scoring system. Data were collected retrospectively from all patients with BCLP who were operated on between 2004 and 2014, at the end of follow-up. The treatment protocol consisted of SABG + PMO in patients aged between 9 and 13 years. Read More

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February 2021

Functional and surgical treatments in patients with spinal muscular atrophy (SMA).

Arch Pediatr 2020 Dec;27(7S):7S35-7S39

Aix-Marseille University, CNRS, ISM UMR 7287, Marseille, France; Pediatric Orthopedics, Timone Enfants, Aix-Marseille Université, Marseille, France; Gait analysis laboratory, Timone Enfants, Aix-Marseille University, Marseille, France.

Spinal muscular atrophies (SMA type 1, 2, 3) present with various severities according to the motor semeiology related to lesions of the peripheral nervous system (lesions of the anterior horn cells motoneuron or even brain stem). Early motor deficiency causes skeletal deformities responsible for the alteration or even absence of motor skills acquisition. The management of these patients involves several practitioners: pediatric neurologist, pediatric pneumologist, physical medicine and rehabilitation therapist, pediatric orthopedic surgeon, psychologist, physiotherapist, etc. Read More

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December 2020

The Importance of Supervising Toothbrush Usage for Young Children at Risk of Lead Toxicity.

J Dent Child (Chic) 2020 Sep;87(3):175-178

Dr. Schaffer is a professor, Department of Pediatrics and Center for Community Health and Prevention, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.

Lead exposure in childhood causes lasting deleterious health effects through multi-system organ toxicity, including in brain, skeletal system, and oral cavity. We report a case that illustrates the imperative for providers to give specific anticipatory guidance on supervising toothbrush usage for young children. A healthy 18-month-old male presented for routine well-child care and had an unremarkable physical exam and developmental assessment. Read More

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September 2020

Facial Swelling in a Toddler Due to a Metastatic High-Risk Neuroblastoma.

J Dent Child (Chic) 2020 Sep;87(3):166-170

Dr. Augello is a senior consultant, Clinic of Oral and Cranio-Maxillofacial Surgery, University Hospital Basel, and Cantonal Hospital Aarau, Switzerland;, Email:

Neuroblastoma is a malignant embryonal tumor derived from the neural crest cells of the sympathetic nervous system. Curative therapy is challenging, especially because early-stage diagnosis in toddlers is difficult. Successful treatment of high-risk neuroblastoma is only achieved in approximately half of the cases and requires an immediate interdisciplinary approach. Read More

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September 2020

Protein homeostasis in LGMDR9 (LGMD2I) - The role of ubiquitin-proteasome and autophagy-lysosomal system.

Neuropathol Appl Neurobiol 2021 Jun 20;47(4):519-531. Epub 2021 Jan 20.

Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway.

Aims: Limb-girdle muscular dystrophy R9 (LGMDR9) is an autosomal recessive disorder caused by mutations in the fukutin-related protein gene (FKRP), encoding a glycosyltransferase involved in α-dystroglycan modification. Muscle atrophy, a significant feature of LGMDR9, occurs by a change in the normal balance between protein synthesis and protein degradation. The ubiquitin-proteasome system (UPS) and autophagy-lysosomal system play a key role in protein degradation in skeletal muscle cells, but their involvement in the pathology of LGMDR9 is still largely unknown. Read More

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Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.

J Med Genet 2020 Dec 15. Epub 2020 Dec 15.

Department of Nephrology, Children's Hospital of Fudan University, Shanghai, China

Background: Nephronophthisis-related ciliopathies (NPHP-RC) account for the majority of cases of monogenetically caused end-stage renal disease (ESRD) in children. Exploring the correlation between the phenotype and genotype of NPHP-RC is helpful for early diagnosis and management. We investigated the phenotype and genotype spectra of NPHP-RC in a Chinese multicentre cohort. Read More

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December 2020

Poncet's Disease: A Case Report.

J Trop Pediatr 2021 01;67(1)

Department of Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand 249203, India.

Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis (MTB). It spreads from one person to the another through the air while coughing, spitting, speaking or sneezing. TB most commonly affects lungs but it can affect any organ system. Read More

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January 2021