2,281 results match your criteria Skeletal System - Child


Impact of child abuse clinical pathways on skeletal survey performance in high risk infants.

Acad Pediatr 2019 Mar 14. Epub 2019 Mar 14.

Division of General Pediatrics, The Children's Hospital of Philadelphia, 34(th) Street and Civic Center Boulevard, Philadelphia, PA 19104, USA; Center for Pediatric Clinical Effectiveness and PolicyLab, The Children's Hospital of Philadelphia, 2716 South Street, Philadelphia, PA 19146, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 34(th) Street and Civic Center Boulevard, Philadelphia, PA 19104.

Objectives: 1) To examine the association between the presence of a child abuse pathway and the odds of skeletal survey performance in infants with injuries associated with high risk of abuse, 2) to determine if pathway presence decreased disparities in skeletal survey performance.

Methods: In this retrospective study of children <1 year diagnosed with injuries associated with high risk of abuse at hospitals in the Pediatric Hospital Information System, information regarding the presence of a child abuse pathway was collected via survey. We examined whether the presence of a child abuse pathway was associated with the odds of obtaining a skeletal survey adjusting for patient level factors. Read More

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http://dx.doi.org/10.1016/j.acap.2019.02.012DOI Listing

Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.

Child Abuse Negl 2019 Mar 8;91:95-101. Epub 2019 Mar 8.

Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Background: The differential diagnosis of non-accidental injury during childhood includes medical conditions that predispose to skeletal fragility. Ehlers-Danlos syndrome (EDS) has been proposed as one such condition despite little objective evidence in the medical literature.

Objective: To investigate if EDS causes increased bone fragility during infancy and childhood. Read More

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http://dx.doi.org/10.1016/j.chiabu.2019.03.008DOI Listing

Mother-to-child transmission and gestational syphilis: Spatial-temporal epidemiology and demographics in a Brazilian region.

PLoS Negl Trop Dis 2019 02 21;13(2):e0007122. Epub 2019 Feb 21.

Faculdade de Ciências da Saúde, Biomedicina, Universidade do Oeste Paulista, Presidente Prudente, SP, Brazil.

Syphilis is a Sexually Transmitted Infection (IST) with significant importance to public health, due to its impact during pregnancy (Gestational Syphilis-GS); especially because syphilis can affect fetus and neonates' development (mother-to-child transmission-MTCT of syphilis), by increasing susceptibility to abortion, premature birth, skeletal malformations, meningitis and pneumonia. Measures to control and eliminate MTCT of syphilis have failed on the last few years in Brazil and this research aimed to identify the seasonality of notified cases of syphilis in a region of São Paulo state. The studied region, Pontal do Paranapanema, comprises 32 cities located in the West of São Paulo state, in Brazil. Read More

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http://dx.doi.org/10.1371/journal.pntd.0007122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383870PMC
February 2019
1 Read

Genome-wide analysis of DNA methylation in relation to socioeconomic status during development and early adulthood.

Am J Phys Anthropol 2019 Feb 16. Epub 2019 Feb 16.

Child and Brain Development Program, Canadian Institute for Advanced Research, Toronto, Ontario, Canada.

Objectives: Socioeconomic status (SES) is a powerful determinant of health, but the underlying biological mechanisms are poorly understood. This study investigates whether levels of DNA methylation at CpG sites across the genome are associated with SES in a cohort of young adults in the Philippines.

Methods: DNA methylation was assayed with the Illumina HumanMethylation450 Bead Chip, in leukocytes from 489 participants in the Cebu Longitudinal Health and Nutrition Survey (mean age = 20. Read More

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http://dx.doi.org/10.1002/ajpa.23800DOI Listing
February 2019
1 Read

Multimodal imaging assessment and histologic correlation of the female rat pelvic floor muscles' anatomy.

J Anat 2019 Apr 10;234(4):543-550. Epub 2019 Feb 10.

Division of Female Pelvic Medicine and Reconstructive Surgery, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Diego, La Jolla, CA, USA.

Pelvic floor disorders negatively impact millions of women worldwide. Although there is a strong epidemiological association with childbirth, the mechanisms leading to the dysfunction of the integral constituents of the female pelvic floor, including pelvic floor skeletal muscles, are not well understood. This is in part due to the constraints associated with directly probing these muscles, which are located deep in the pelvis. Read More

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http://dx.doi.org/10.1111/joa.12943DOI Listing
April 2019
1 Read
2.097 Impact Factor

Engineering Biomimetic Materials for Skeletal Muscle Repair and Regeneration.

Adv Healthc Mater 2019 Mar 6;8(5):e1801168. Epub 2019 Feb 6.

Department of Cardiothoracic Surgery, Stanford University, Stanford, CA, 94305, USA.

Although skeletal muscle is highly regenerative following injury or disease, endogenous self-regeneration is severely impaired in conditions of volume traumatic muscle loss. Consequently, tissue engineering approaches are a promising means to regenerate skeletal muscle. Biological scaffolds serve as not only structural support for the promotion of cellular ingrowth but also impart potent modulatory signaling cues that may be beneficial for tissue regeneration. Read More

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http://dx.doi.org/10.1002/adhm.201801168DOI Listing
March 2019
4 Reads

Subperiosteal new bone formation with the distal tibial classic metaphyseal lesion: prevalence on radiographic skeletal surveys.

Pediatr Radiol 2019 Jan 4. Epub 2019 Jan 4.

Department of Radiology, Boston Children's Hospital, 300 Longwood Ave., Boston, MA, 02115, USA.

Background: The classic metaphyseal lesion (CML) is a strong indicator of infant abuse, and the distal tibia is one of the most common sites for this injury.

Objective: To determine the prevalence of subperiosteal new bone formation accompanying the distal tibial CMLs identified on infant skeletal surveys.

Materials And Methods: Skeletal surveys performed for suspected infant abuse (2005-2017) were reviewed. Read More

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http://link.springer.com/10.1007/s00247-018-4329-z
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http://dx.doi.org/10.1007/s00247-018-4329-zDOI Listing
January 2019
2 Reads

Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population.

Gene 2019 Mar 17;688:215-220. Epub 2018 Dec 17.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, China. Electronic address:

Introduction: PAX1 has been identified to be associated with adolescent idiopathic scoliosis (AIS). However, data are unavailable for northern Chinese populations, and it is important to determine the exact clinical phenotypes of the associated genetic polymorphisms.

Methods: Five PAX1 single nucleotide polymorphism (SNP) loci were genotyped in 480 northern Chinese Han AIS patients and 841 controls. Read More

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http://dx.doi.org/10.1016/j.gene.2018.12.013DOI Listing
March 2019
2 Reads

Feasibility of a novel dose fractionation strategy in TMI/TMLI.

Radiat Oncol 2018 Dec 17;13(1):248. Epub 2018 Dec 17.

Department of Radiation and Medical Oncology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, China.

Background: To report our experience in planning and delivering total marrow irradiation (TMI) and total marrow and lymphatic irradiation (TMLI) in patients with hematologic malignancies.

Methods: Twenty-seven patients undergoing bone marrow transplantation were treated with TMI/TMLI using Helical Tomotherapy (HT). All skeletal bones exclusion of the mandible comprised the treatment target volume and, for TMLI, lymph node chains, liver, spleen and/or brain were also included according to the clinical indication. Read More

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https://ro-journal.biomedcentral.com/articles/10.1186/s13014
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http://dx.doi.org/10.1186/s13014-018-1201-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296054PMC
December 2018
4 Reads

Cross-talk of healthy and impaired human tissues for dissection of disease pathogenesis.

Biotechnol Prog 2018 Dec 13. Epub 2018 Dec 13.

Venetian Inst. of Molecular Medicine, Via Orus 2, Padova, 35129, Italy.

Systemic diseases affect multiple tissues that interact with each other within a network difficult to explore at the body level. However, understanding the interdependences between tissues could be of high relevance for drug target identification, especially at the first stages of disease development. In vitro systems have the advantages of accessibility to measurements and precise controllability of culture conditions, but currently have limitations in mimicking human in vivo systemic tissue response. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/btpr.2766
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http://dx.doi.org/10.1002/btpr.2766DOI Listing
December 2018
11 Reads

Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):479-481

Civil Hospital Karachi, Pakistan.

Gaucher's disease is the most common lysosomal storage disease which occurs due to a deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebrosidase in the cells of macrophage-monocyte system. It is inherited as an autosomal recessive mutation and has three clinical subtypes. Read More

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January 2019
16 Reads

The results of osteotomy at the base of femoral neck with osteoplasty in restoration of abductor function and strength in slipped capital femoral epiphysis.

Bone Joint J 2018 Nov;100-B(11):1524-1532

Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil; Department of Biomechanics, Medicine and Rehabilitation of the Locomotor System, Clinical Hospital of Ribeirão Preto, Ribeirão Preto, Brazil.

Aims: The aims of this study were to evaluate the abductor function in moderate and severe slipped capital femoral epiphysis (SCFE), comparing the results of a corrective osteotomy at the base of the femoral neck and osteoplasty with 1) in situ epiphysiodesis for mild SCFE, 2) contralateral unaffected hips, and 3) hips from healthy individuals.

Patients And Methods: A total of 24 patients (mean age 14.9 years (sd 1. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/0301-620X.100
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http://dx.doi.org/10.1302/0301-620X.100B11.BJJ-2018-0273.R1DOI Listing
November 2018
17 Reads

A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation.

J Craniofac Surg 2019 Jan;30(1):184-185

Division of Plastic Surgery, Children's National Health System, Washington, DC.

Schimmelpenning syndrome is a neurocutaneous disorder characterized by craniofacial nevus sebaceus that fall along embryonic cutaneous lines and tend to be associated with neurological, ocular, skeletal, and vascular abnormalities. We report a child with extensive nevus sebaceus of the scalp, face, and thorax and other unusual physical findings who was found to have a mosaic mutation of KRAS c.35G>A p. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004887DOI Listing
January 2019
7 Reads

A Deep Automated Skeletal Bone Age Assessment Model with Heterogeneous Features Learning.

J Med Syst 2018 Nov 3;42(12):249. Epub 2018 Nov 3.

School of Computer Science and Technology, Huazhong University of Science and Technology, Wuhan, 430074, China.

Skeletal bone age assessment is a widely used standard procedure in both disease detection and growth prediction for children in endocrinology. Conventional manual assessment methods mainly rely on personal experience in observing X-ray images of left hand and wrist to calculate bone age, which show some intrinsic limitations from low efficiency to unstable accuracy. To address these problems, some automated methods based on image processing or machine learning have been proposed, while their performances are not satisfying enough yet in assessment accuracy. Read More

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http://link.springer.com/10.1007/s10916-018-1091-6
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http://dx.doi.org/10.1007/s10916-018-1091-6DOI Listing
November 2018
9 Reads
1.372 Impact Factor

CARDIOVASCULAR SYSTEM AND MUSCULOSKELETAL CHANGES OF THE SPORTSMEN WITH POLYMORPHISMS OF COL1A1 GENE.

Georgian Med News 2018 Sep(282):95-99

State Establishment "Dnipropetrovsk Medical Academy of Health Ministry of Ukraine", Ukraine.

The purpose of the study of the study is an identification of the extension and impact of polymorphism of COL1A1 gene on cardiovascular system and musculoskeletal state of athletes. 85 people in the ages from 9 to 32 (the average age was 23.2±4. Read More

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September 2018
15 Reads

Acetabular morphology in slipped capital femoral epiphysis: comparison at treatment onset and skeletal maturity.

J Child Orthop 2018 Oct;12(5):444-453

Department of Orthopedic Surgery, Boston Children's Hospital, Boston, USA.

Purpose: To investigate changes in acetabular morphology during the follow-up of slipped capital femoral epiphysis (SCFE) and search for factors associated with acetabular dysplasia at skeletal maturity.

Methods: We evaluated 108 patients with unilateral SCFE (mean age at slip, 12.3 years sd 1. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/1863-2548.12.
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http://dx.doi.org/10.1302/1863-2548.12.180057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169558PMC
October 2018
3 Reads

[Comparison of Two Methods of Minimally Invasive Osteosynthesis for Proximal Radius Fractures in Paediatric Patients].

Acta Chir Orthop Traumatol Cech 2018 ;85(4):276-280

Klinika dětské chirurgie, ortopedie a traumatologie, Fakultní nemocnice Brno a Lékařské fakulty Masarykovy univerzity, Brno.

PURPOSE OF THE STUDY The presented study was construed as a retrospective multicentric clinical study focused on paediatric skeletal injuries of the proximal radius. As a general rule, the Type I displaced fractures (Judet classification) are treated conservatively, with no reduction. In the case of Type II-IV displacement, the fracture necessitates reduction or is also transfixed by a Kirschner wire (K-wire) or a Prevot nail (P-nail) where subsequent fragment instability occurs. Read More

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January 2019
1 Read

Chest radiographs versus CT for the detection of rib fractures in children (DRIFT): a diagnostic accuracy observational study.

Lancet Child Adolesc Health 2018 Nov 22;2(11):802-811. Epub 2018 Sep 22.

Department of Clinical Radiology, Great Ormond Street Hospital for Children, London, UK; UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address:

Background: Internationally, chest radiography is the standard investigation for identifying rib fractures in suspected physical abuse in infants. Several small observation studies in children have found that chest CT can provide greater accuracy than radiography for fracture detection, potentially aiding medicolegal proceedings in abuse cases; however, to our knowledge, this greater accuracy has not been comprehensively evaluated. We aimed to determine differences in rib fracture detection rates between post-mortem chest radiographs and chest CT images, using forensic autopsy as the reference standard. Read More

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http://dx.doi.org/10.1016/S2352-4642(18)30274-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350458PMC
November 2018
9 Reads

A fracture, a family, legal entanglement, expensive investigation, and a familiar disease.

Pediatric Health Med Ther 2018 10;9:97-100. Epub 2018 Sep 10.

Department of Pediatrics,

Osteogenesis imperfecta can be commonly mistaken for child abuse because of similar pattern of injuries. AA is a 3-week-old baby who presented to our emergency department with excessive crying. Skeletal survey revealed subacute spiral fracture of the right humerus, right posterior eighth and ninth ribs, acute fracture of the left femur, bowing of tibia and femur, and osteopenia. Read More

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http://dx.doi.org/10.2147/PHMT.S174250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136399PMC
September 2018

Children With Cerebral Palsy Have Greater Stride-to-Stride Variability of Muscle Synergies During Gait Than Typically Developing Children: Implications for Motor Control Complexity.

Neurorehabil Neural Repair 2018 09;32(9):834-844

1 National Institutes of Health, Bethesda, MD, USA.

Background: There is mounting evidence that the central nervous system utilizes a modular approach for neuromuscular control of walking by activating groups of muscles in units termed muscle synergies. Examination of muscle synergies in clinical populations may provide insights into alteration of neuromuscular control underlying pathological gait patterns. Previous studies utilizing synergy analysis have reported reduced motor control complexity during walking in those with neurological deficits, revealing the potential clinical utility of this approach. Read More

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http://dx.doi.org/10.1177/1545968318796333DOI Listing
September 2018
2 Reads

CT analysis of anatomical distribution of melorheostosis challenges the sclerotome hypothesis.

Bone 2018 Dec 12;117:31-36. Epub 2018 Sep 12.

Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States of America.

Melorheostosis (MEL) is a rare disease of high bone mass with patchy skeletal distribution affecting the long bones. We recently reported somatic mosaic mutations in MAP2K1 in 8 of 15 patients with the disease. The unique anatomic distribution of melorheostosis is of great interest. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S87563282183034
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http://dx.doi.org/10.1016/j.bone.2018.09.005DOI Listing
December 2018
17 Reads

A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Chin Med J (Engl) 2018 Sep;131(18):2164-2171

Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.

Methods: Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing. Read More

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http://dx.doi.org/10.4103/0366-6999.240797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144853PMC
September 2018
24 Reads

Selective motor control and gross motor function in bilateral spastic cerebral palsy.

Dev Med Child Neurol 2019 01 10;61(1):57-61. Epub 2018 Sep 10.

One Small Step Gait Laboratory, Evelina London Children's Hospital, Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Aim: To investigate the relationship between selective motor control (SMC), muscle volume, and spasticity with gross motor function in adolescents and young adults with bilateral spastic cerebral palsy (CP).

Method: Eleven male participants with CP (mean age 15y 7mo, standard deviation 3y 6mo, range 12y 1mo-23y 1mo) in Gross Motor Function Classification System (GMFCS) levels I to IV took part in this cross-sectional study. Magnetic resonance imaging (MRI) of both lower limbs of all participants were acquired, from which 18 muscles were manually segmented and muscle volume calculated by a single assessor. Read More

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http://dx.doi.org/10.1111/dmcn.14024DOI Listing
January 2019
6 Reads

Necroptosis mediates myofibre death in dystrophin-deficient mice.

Nat Commun 2018 09 7;9(1):3655. Epub 2018 Sep 7.

The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK.

Duchenne muscular dystrophy (DMD) is a severe degenerative disorder caused by mutations in the dystrophin gene. Dystrophin-deficient muscles are characterised by progressive myofibre necrosis in which inflammation plays a deleterious role. However, the molecular mechanisms underlying inflammation-induced necrosis in muscle cells are unknown. Read More

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http://www.nature.com/articles/s41467-018-06057-9
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http://dx.doi.org/10.1038/s41467-018-06057-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128848PMC
September 2018
27 Reads

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents.

J Vis Exp 2018 08 10(138). Epub 2018 Aug 10.

Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health; Department of Physiology, Anatomy and Genetics, University of Oxford;

RNA interference via the endogenous miRNA pathway regulates gene expression by controlling protein synthesis through post-transcriptional gene silencing. In recent years, miRNA-mediated gene regulation has shown potential for treatment of neurological disorders caused by a toxic gain of function mechanism. However, efficient delivery to target tissues has limited its application. Read More

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http://dx.doi.org/10.3791/55724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126683PMC
August 2018
3 Reads

Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome.

J Clin Endocrinol Metab 2018 Nov;103(11):4293-4303

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.

Context: McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. Read More

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http://dx.doi.org/10.1210/jc.2018-01022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194803PMC
November 2018
11 Reads

Correlation of electrophysiological parameters of peripheral nerves and manual dexterity in patients with amyotrophic lateral sclerosis.

Wiad Lek 2018;71(4):807-814

Laboratory Of Neurophysiology, Chair Of Child And Youth Neurology Collegium Medicum, Jagiellonian University In Krakow, Krakow, Poland.

Objective: Introduction: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and lower motor neurons, presenting with various manifestations, leading to progressing disability, with poor prognosis, and with no options for successful treatment. In its classic form the central and peripheral motor neurons are simultaneously affected at the beginning; the bulbar-onset ALS successively involving other parts of the nervous system is slightly less common. The aim: To demonstrate a correlation between electrophysiological parameters of peripheral nerves and loss of manual dexterity in the ALS. Read More

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October 2018
15 Reads

Humeral Head Ossification Predicts Peak Height Velocity Timing and Percentage of Growth Remaining in Children.

J Pediatr Orthop 2018 Oct;38(9):e546-e550

Departments of Orthopaedics and Rehabilitation.

Background: Understanding skeletal maturity is important in the management of idiopathic scoliosis. Iliac apophysis, triradiate cartilage, hand, and calcaneal ossification patterns have previously been described to assess both peak height velocity (PHV) and percent growth remaining; however, these markers may not be present on standard spine radiographs. The purpose of this study was to describe a novel maturity assessment method based on proximal humeral epiphyseal ossification patterns. Read More

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http://dx.doi.org/10.1097/BPO.0000000000001232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135469PMC
October 2018
9 Reads

Changes in corticospinal excitability associated with motor learning by observing.

Exp Brain Res 2018 Oct 21;236(10):2829-2838. Epub 2018 Jul 21.

The Brain and Mind Institute, The University of Western Ontario, London, ON, Canada.

While many of our motor skills are acquired through physical practice, we can also learn how to make movements by observing others. For example, individuals can learn how to reach in novel dynamical environments ('force fields', FF) by observing the movements of a tutor. Previous neurophysiological and neuroimaging studies in humans suggest a role for the motor system in motor learning by observing. Read More

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http://link.springer.com/10.1007/s00221-018-5339-7
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http://dx.doi.org/10.1007/s00221-018-5339-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139265PMC
October 2018
10 Reads

Wnt11 promotes BMP9-induced osteogenic differentiation through BMPs/Smads and p38 MAPK in mesenchymal stem cells.

J Cell Biochem 2018 Nov 16;119(11):9462-9473. Epub 2018 Jul 16.

Department of Orthopedic, Children Hospital of Chongqing Medical University, Chongqing Key Laboratory of Pediatrics, Chongqing, China.

Bone morphogenetic protein 9 (BMP9), as one of the most potent osteogenic factors, is a promising cytokine for bone tissue engineering. Wnt11 can regulate the development of the skeletal system and is related to high bone mass syndrome. However, the effect of Wnt11 on BMP9-induced osteogenic differentiation remains unknown. Read More

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http://dx.doi.org/10.1002/jcb.27262DOI Listing
November 2018
13 Reads

Natural history of mitochondrial disorders: a systematic review.

Essays Biochem 2018 07 20;62(3):423-442. Epub 2018 Jul 20.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health

The natural history of a disease defines the age of onset, presenting features, clinical phenotype, morbidity and mortality outcomes of disease that is unmodified by treatments. A clear understanding of the natural history of mitochondrial disorders is essential for establishing genotype-phenotype-prognosis correlations. We performed a systematic review of the reported natural history of mitochondrial disease by searching the literature for all published natural history studies containing at least 20 individuals. Read More

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http://essays.biochemistry.org/lookup/doi/10.1042/EBC2017010
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http://dx.doi.org/10.1042/EBC20170108DOI Listing
July 2018
22 Reads

Comparative assessment of treatment efficacy and adverse effects during nonextraction orthodontic treatment of Class I malocclusion patients with direct and indirect bonding: A parallel randomized clinical trial.

Am J Orthod Dentofacial Orthop 2018 Jul;154(1):26-34.e1

Department of Orthodontics, Faculty of Dentistry, Hacettepe University, Ankara, Turkey. Electronic address:

Introduction: The objective of this 2-arm parallel trial was to compare the effects of direct and indirect bonding techniques on the orthodontic treatment process and outcomes.

Methods: Thirty patients were randomly assigned to undergo bonding of brackets indirectly (group A, n = 15) or directly (group B, n = 15). Eligibility criteria included permanent dentition with bilateral Angle Class I molar and canine relationships, no previous orthodontic treatment, no skeletal discrepancy, and mild or moderate crowding. Read More

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http://dx.doi.org/10.1016/j.ajodo.2017.12.009DOI Listing
July 2018
35 Reads

Vitamin D Supplementation Guidelines for General Population and Groups at Risk of Vitamin D Deficiency in Poland-Recommendations of the Polish Society of Pediatric Endocrinology and Diabetes and the Expert Panel With Participation of National Specialist Consultants and Representatives of Scientific Societies-2018 Update.

Front Endocrinol (Lausanne) 2018 31;9:246. Epub 2018 May 31.

Department of Endocrinology and Metabolic Diseases, Medical University of Lodz, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.

Introduction: Vitamin D deficiency is an important public health problem worldwide. Vitamin D deficiency confers a significant risk for both skeletal and non-skeletal disorders and a number of lifelong negative health outcomes. The objectives of this evidence-based guidelines document are to provide health care professionals in Poland, an updated recommendation for the prevention, diagnosis and treatment of vitamin D deficiency. Read More

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http://dx.doi.org/10.3389/fendo.2018.00246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990871PMC
May 2018
19 Reads

Two for One: A Change in Hand Positioning During Low-Dose Spinal Stereoradiography Allows for Concurrent, Reliable Sanders Skeletal Maturity Staging.

Spine Deform 2018 Jul - Aug;6(4):391-396

Division of Orthopaedics, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Study Design: Prospective survey.

Objectives: To evaluate the reliability of low-dose stereoradiography compared to standard hand bone age films for assessing Sanders skeletal maturity stage in patients with idiopathic scoliosis.

Summary Of Background Data: The Sanders skeletal maturity staging system is a valuable tool in the care of juvenile and adolescent spine scoliosis, but obtaining dedicated hand films adds additional time, radiation, and expense to the clinic visit. Read More

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http://dx.doi.org/10.1016/j.jspd.2018.01.003DOI Listing
January 2019
4 Reads

Management of Neuromuscular Hip Dysplasia in Children With Cerebral Palsy: Lessons and Challenges.

Authors:
Jon R Davids

J Pediatr Orthop 2018 Jul;38 Suppl 1:S21-S27

Shriners Hospitals for Children Northern California, Sacramento, CA.

Optimal clinical decision making and surgical management of hip dysplasia in children with cerebral palsy (CP) requires an understanding of the underlying pathophysiology (pathomechanics and pathoanatomy), incidence, and natural history. The incidence of hip dysplasia in children with CP is directly related to the degree of motor impairment. A subluxated or dislocated hip in a child with CP can compromise the quality of life for both the child and their caregivers. Read More

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http://Insights.ovid.com/crossref?an=01241398-201807001-0000
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http://dx.doi.org/10.1097/BPO.0000000000001159DOI Listing
July 2018
9 Reads

Angiotensin receptor blockade in juvenile male rat offspring: Implications for long-term cardio-renal health.

Pharmacol Res 2018 08 2;134:320-331. Epub 2018 Jun 2.

School of Biomedical Sciences, The University of Queensland, St Lucia, QLD, Australia; Department of Physiology, The University of Melbourne, Parkville, VIC, Australia; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, QLD, Australia.

Inhibition of the renin-angiotensin system in early postnatal life is a potential therapeutic approach to prevent long-term cardiovascular and kidney diseases in individuals born small. We determined the long-term effects of juvenile losartan treatment on cardiovascular and kidney function in control male rat offspring and those exposed to uteroplacental insufficiency and born small. Bilateral uterine vessel ligation (Restricted) or sham (Control) surgery was performed in late gestation in Wistar Kyoto rats. Read More

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http://dx.doi.org/10.1016/j.phrs.2018.06.001DOI Listing

[Treatment recommendations for protracted hip immaturity in infants : Conservative approach versus open reduction].

Orthopade 2018 06;47(6):539-552

Sektionsleitung Kinder- und Jugendorthopädie, Kindliche Wirbelsäulenchirurgie, Orthopädische Klinik und Hochschulambulanz, Asklepios-Klinikum Bad Abbach, Universität Regensburg, Kaiser-Karl-V-Allee 3, 93077, Bad Abbach, Deutschland.

The healthy upright posture is a result of a continuous maturation process of the locomotor system throughout skeletal growth rendering muscle strength and stability: The hip joint in its central position plays a key role for unimpaired and pain-free gait. Nonetheless, it is also regularly affected by delayed maturation, thus being of special interest for the disease screening procedures of every newborn child. Structured screening examinations in the first 3 postnatal months will ideally detect any dysplasia, therefore simple conservative interventions will usually accelerate the maturation process. Read More

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http://dx.doi.org/10.1007/s00132-018-3579-7DOI Listing
June 2018
4 Reads

Improving the therapeutic efficacy of prilocaine by PLGA microparticles: Preparation, characterization and in vivo evaluation.

Int J Pharm 2018 Aug 23;547(1-2):24-30. Epub 2018 May 23.

Department of Neuroscience, Psychology, Drug Research and Child Health (Neurofarba)-Pharmacology and Toxicology Section, University of Florence, Florence, Italy.

A delivery system based on poly(lactic-co-glycolic acid) polymer (PLGA) microparticles has been developed for parenteral administration of the local anesthetic prilocaine in its free base form. Both drug-free and drug-loaded microparticles, prepared by a double-emulsion-evaporation method, were characterized for mean size by Laser Diffraction Analysis, while their morphology was investigated by scanning electron microscopy. The preparation technique allowed obtainment of homogeneous microparticles of about 25 µm diameter, suitable for subcutaneous administration. Read More

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http://dx.doi.org/10.1016/j.ijpharm.2018.05.054DOI Listing
August 2018
3 Reads

Involvement of the renin-angiotensin system in the progression of severe hand-foot-and-mouth disease.

PLoS One 2018 23;13(5):e0197861. Epub 2018 May 23.

Department of Epidemiology, College of Public Health, Zhengzhou University, Zhengzhou, Henan Province, China.

Background: Hand-foot-and-mouth disease (HFMD) is generally considered as a mild exanthematous disease to infants and young children worldwide. HFMD cases are usually mild and self-limiting but for few cases leads to complicated severe clinical outcomes, and even death. Previous studies have indicated that serum Ang II levels in patients with H7N9 infection were related to the severity of infection. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197861PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965884PMC
November 2018
4 Reads
3.230 Impact Factor

The progress of AAV-mediated gene therapy in neuromuscular disorders.

Expert Opin Biol Ther 2018 06 4;18(6):681-693. Epub 2018 Jun 4.

a The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, Great Ormond Street Institute of Child Health, University College London , London , UK.

Introduction: The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA. Read More

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http://dx.doi.org/10.1080/14712598.2018.1479739DOI Listing
June 2018
3 Reads

Is early treatment for mild adolescent idiopathic scoliosis superior over the traditional 'watch & wait' approach? A case report with long-term follow-up.

Authors:
Paul A Oakley

J Phys Ther Sci 2018 May 8;30(5):680-684. Epub 2018 May 8.

Private Practice: 11A-1100 Gorham Street, Newmarket, Ontario L3Y 8Y8, Canada.

[Purpose] To present a case of the complete correction of mild suspected adolescent idiopathic scoliosis in support of the argument that early aggressive treatment is superior to the traditional 'watch & wait' approach. [Subject and Methods] A 9-year-old female presented with a 14° thoracic curve indicative of early adolescent idiopathic scoliosis. The parents consented to immediate and early treatment with the SpineCor dynamic and corrective scoliosis brace. Read More

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http://dx.doi.org/10.1589/jpts.30.680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940471PMC
May 2018
3 Reads

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Hum Genet 2018 May 12;137(5):389-400. Epub 2018 May 12.

Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Internal Postal Code 377, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One variant, c. Read More

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http://dx.doi.org/10.1007/s00439-018-1880-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973959PMC
May 2018
11 Reads

Mucopolysaccharidoses: overview of neuroimaging manifestations.

Pediatr Radiol 2018 09 11;48(10):1503-1520. Epub 2018 May 11.

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Read More

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http://link.springer.com/10.1007/s00247-018-4139-3
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http://dx.doi.org/10.1007/s00247-018-4139-3DOI Listing
September 2018
11 Reads

Muscle and tendon morphology alterations in children and adolescents with mild forms of spastic cerebral palsy.

BMC Pediatr 2018 05 9;18(1):156. Epub 2018 May 9.

Department of Paediatric Surgery, Medical University of Graz, Auenbruggerplatz 34, 8036, Graz, Austria.

Background: Early detection of changes at the muscular level before a contracture develops is important to gain knowledge about the development of deformities in individuals with spasticity. However, little information is available about muscle morphology in children with spastic diplegic cerebral palsy (CP) without contracture or equinus gait. Therefore, the aim of this study was to compare the gastrocnemius medialis (GM) and Achilles tendon architecture of children and adolescents with spastic CP without contracture or equinus gait to that of typically developing (TD) children. Read More

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http://dx.doi.org/10.1186/s12887-018-1129-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941654PMC
May 2018
2 Reads

Vitamin D in pediatric age: consensus of the Italian Pediatric Society and the Italian Society of Preventive and Social Pediatrics, jointly with the Italian Federation of Pediatricians.

Ital J Pediatr 2018 May 8;44(1):51. Epub 2018 May 8.

Department of Sciences for Health Promotion and Mother and Child Care, Neonatal Intensive Care Unit, AOUP, University of Palermo, Palermo, Italy.

Vitamin D plays a pivotal role in the regulation of calcium-phosphorus metabolism, particularly during pediatric age when nutritional rickets and impaired bone mass acquisition may occur.Besides its historical skeletal functions, in the last years it has been demonstrated that vitamin D directly or indirectly regulates up to 1250 genes, playing so-called extraskeletal actions. Indeed, recent data suggest a possible role of vitamin D in the pathogenesis of several pathological conditions, including infectious, allergic and autoimmune diseases. Read More

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https://ijponline.biomedcentral.com/articles/10.1186/s13052-
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http://dx.doi.org/10.1186/s13052-018-0488-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941617PMC
May 2018
21 Reads

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Am J Hum Genet 2018 05;102(5):858-873

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

The exosome is a conserved multi-protein complex that is essential for correct RNA processing. Recessive variants in exosome components EXOSC3, EXOSC8, and RBM7 cause various constellations of pontocerebellar hypoplasia (PCH), spinal muscular atrophy (SMA), and central nervous system demyelination. Here, we report on four unrelated affected individuals with recessive variants in EXOSC9 and the effect of the variants on the function of the RNA exosome in vitro in affected individuals' fibroblasts and skeletal muscle and in vivo in zebrafish. Read More

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http://dx.doi.org/10.1016/j.ajhg.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986733PMC
May 2018
56 Reads

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.

Hum Mol Genet 2018 07;27(14):2454-2465

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

The 17 genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11. Read More

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http://dx.doi.org/10.1093/hmg/ddy146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030957PMC
July 2018
22 Reads

Neuromuscular variability and spatial accuracy in children and older adults.

J Electromyogr Kinesiol 2018 Aug 24;41:27-33. Epub 2018 Apr 24.

Department of Applied Physiology and Kinesiology, University of Florida, FL, USA; Department of Physical Therapy, University of Florida, FL, USA. Electronic address:

Our ability to control movements is influenced by the developmental status of the neuromuscular system. Consequently, movement control improves from childhood to early adulthood but gradually declines thereafter. However, no study has compared movement accuracy between children and older adults. Read More

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http://dx.doi.org/10.1016/j.jelekin.2018.04.011DOI Listing
August 2018
5 Reads