2,262 results match your criteria Skeletal System - Child


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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/btpr.2766
Publisher Site
http://dx.doi.org/10.1002/btpr.2766DOI Listing
December 2018
5 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

View Article

Download full-text PDF

Source
January 2019
11 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

View Article

Download full-text PDF

Source
https://online.boneandjoint.org.uk/doi/10.1302/0301-620X.100
Publisher Site
http://dx.doi.org/10.1302/0301-620X.100B11.BJJ-2018-0273.R1DOI Listing
November 2018
12 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
September 2018
10 Reads

A new multi-system disorder caused by the Gαs mutation p.F376V.

J Clin Endocrinol Metab 2018 Oct 11. Epub 2018 Oct 11.

Department for Pediatric Endocrinology and Diabetology; Berlin, Germany.

Context: The alpha-subunit of the stimulatory G-protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, while somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright Syndrome. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
October 2018
1 Read

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

View Article

Download full-text PDF

Source
https://online.boneandjoint.org.uk/doi/10.1302/1863-2548.12.
Publisher Site
http://dx.doi.org/10.1302/1863-2548.12.180057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169558PMC
October 2018
2 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2352-4642(18)30274-8DOI Listing
November 2018
4 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S87563282183034
Publisher Site
http://dx.doi.org/10.1016/j.bone.2018.09.005DOI Listing
December 2018
12 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0366-6999.240797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144853PMC
September 2018
14 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

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41467-018-06057-9
Publisher Site
http://dx.doi.org/10.1038/s41467-018-06057-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128848PMC
September 2018
18 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3791/55724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126683PMC

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2018-01022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194803PMC
November 2018
5 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

View Article

Download full-text PDF

Source
October 2018
11 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135469PMC
October 2018
4 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

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00221-018-5339-7
Publisher Site
http://dx.doi.org/10.1007/s00221-018-5339-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139265PMC
October 2018
9 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcb.27262DOI Listing
November 2018
10 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

View Article

Download full-text PDF

Source
http://essays.biochemistry.org/lookup/doi/10.1042/EBC2017010
Publisher Site
http://dx.doi.org/10.1042/EBC20170108DOI Listing
July 2018
15 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajodo.2017.12.009DOI Listing
July 2018
29 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2018.00246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990871PMC
May 2018
15 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jspd.2018.01.003DOI Listing
January 2019
3 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001159DOI Listing
July 2018
1 Read

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

Pharmacol Res 2018 Aug 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00132-018-3579-7DOI Listing
June 2018
3 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijpharm.2018.05.054DOI Listing
August 2018
1 Read

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197861PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965884PMC
November 2018
2 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14712598.2018.1479739DOI Listing
June 2018
2 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00247-018-4139-3DOI Listing
September 2018

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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

Source
https://ijponline.biomedcentral.com/articles/10.1186/s13052-
Publisher Site
http://dx.doi.org/10.1186/s13052-018-0488-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941617PMC
May 2018
12 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986733PMC
May 2018
38 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

View Article

Download full-text PDF

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

Effects of a hippotherapy intervention on muscle spasticity in children with cerebral palsy: A randomized controlled trial.

Complement Ther Clin Pract 2018 May 19;31:188-192. Epub 2018 Feb 19.

Department of Nursing and Physiotherapy, University of Cádiz, Cádiz, Spain; Institute of Research and Innovation in Biomedical Sciences of the Province of Cadiz (INiBICA), University of Cádiz, Cádiz, Spain. Electronic address:

Objective: The aim of the present study is to evaluate the effect of a 12 weeks hippotherapy intervention protocol on hip adductors spasticity in children with spastic cerebral palsy.

Design: Randomized controlled trial.

Settings/location: The intervention was conducted in an Equestrian and Therapeutic Association. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ctcp.2018.02.013DOI Listing
May 2018
1 Read

Diskitis as Manifestation of Gait Disturbance.

Iran J Child Neurol 2018 ;12(2):117-120

Pediatrics Growth Disorders Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.

Gait disturbance is a common presentation of neurologic disease in children. Limping is a kind of gait dysfunction that occurs due to neurologic & skeletal diseases. Diskitis is an inflammatory process noted as one of the significant causes of limping especially in children aged less than 3 yr. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904747PMC
January 2018
2 Reads

Effects of ultrasound-guided botulinum toxin type-A injections with a specific approach in spastic cerebral palsy.

Acta Neurol Belg 2018 Sep 24;118(3):429-433. Epub 2018 Apr 24.

Department of Pediatrics, Division of Developmental and Behavioral Pediatrics, Faculty of Medicine, Inonu University, Malatya, Turkey.

The aim of this study was to detect effects of ultrasound-guided botulinum toxin type-A (US-guided BoNT-A) injections prepared according to lower extremity innervation zones on spasticity and motor function in 3-16 years children with diplegic and hemiplegic spastic cerebral palsy. This study included 25 patients between 3 and 16 years of age who admitted to our clinic in 2017, were being followed in our clinic with a diagnosis of cerebral palsy, had BoNT-A injections due to lower extremity spasticity. The US-guided BoNT-A injections were administered into the spastic muscles using a specific approach according to innervation zones of muscle. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13760-018-0929-5DOI Listing
September 2018
7 Reads

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 Jun;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

Objective: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder.

Methods: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018
10 Reads
9.980 Impact Factor

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

J Genet 2018 Mar;97(1):35-46

Department of Developmental Pediatrics, Affiliated Shengjing Hospital of China Medical University, Shenyang 110004, People's Republic of China.

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. Read More

View Article

Download full-text PDF

Source

[Preliminary study of robot-assisted ankle rehabilitation for children with cerebral palsy].

Beijing Da Xue Xue Bao Yi Xue Ban 2018 Apr;50(2):207-212

Department of Rehabilitation Medicine, Peking University First Hospital, Beijing 100034, China.

Objective: To propose a kind of robotic ankle-foot rehabilitation system for children with cerebral palsy and to preliminarily verify its feasibility in clinical application.

Methods: A robot assisted ankle-foot rehabilitation system was specially designed and developed for children with cerebral palsy and a preliminary clinical study was conducted in Department of Rehabilitation Medicine, Peking University First Hospital. Modified Tardieu Scale and joint biomechanical properties (ankle plantar flexion resistance torque under different ankle dorsiflexion angles) were measured to analyze the muscle tone and soft tissue compliance of the ankle plantar flexors pre- and post-robotic training intervention. Read More

View Article

Download full-text PDF

Source
April 2018
1 Read

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Ital J Pediatr 2018 Apr 4;44(1):45. Epub 2018 Apr 4.

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Via A. Giordano 3, 90127, Palermo, Italy.

Background: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13052-018-0483-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885309PMC
April 2018
1 Read

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Lancet 2018 04 5;391(10129):1483-1492. Epub 2018 Apr 5.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, University College London, London, UK.

Background: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0140-6736(18)30021-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899997PMC
April 2018
6 Reads

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.

PLoS One 2018 26;13(3):e0194540. Epub 2018 Mar 26.

Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neuroscience Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of nonsense mutations and viral mediated gene therapy. In all these strategies, different dystrophin proteins, often internally deleted, are produced, similar to those found in patients with the milder DMD allelic variant, Becker muscular dystrophy (BMD). The primary biological endpoint of these trials is to induce functional dystrophin expression. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0194540PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868811PMC
July 2018
1 Read

Influence of growth hormone therapy on selected dental and skeletal system parameters.

Ann Agric Environ Med 2018 Mar 11;25(1):60-65. Epub 2017 Feb 11.

Department of Paediatric Endocrinology and Diabetology. Medical University, Lublin, Poland..

Introduction: Growth hormone deficiency (GHD) is one of the main indications for growth hormone therapy. One characteristic of this disease is bone age delay in relation to the chronological age. Pituitary dysfunction negatively affects the growth and development of the jaws and teeth of the child. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5604/12321966.1233573DOI Listing
March 2018
3 Reads

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.

Calcif Tissue Int 2018 Sep 23;103(3):353-358. Epub 2018 Mar 23.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I collagen, COL1A1 and COL1A2 and is inherited as an autosomal dominant trait. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00223-018-0414-4DOI Listing
September 2018
5 Reads

Solitary Primary Intraosseous Angiosarcoma of the Mandible.

Indian J Surg Oncol 2018 Mar 25;9(1):86-89. Epub 2018 Jan 25.

Surgical Oncology, Cancer Institute (WIA), 38, Sardar Patel Rd, Adyar, Chennai, 600036 India.

Angiosarcoma is a malignant vascular tumor derived from the mesenchymal cells which have undergone an angioblastic differentiation. About half of the angiosarcomas are reported to localize in the skin and soft tissues of the head and neck, i.e. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13193-018-0730-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856706PMC
March 2018
2 Reads

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Neurogenetics 2018 May 16;19(2):77-91. Epub 2018 Mar 16.

Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Piazza G. Cesare, 11, Bari, Italy.

Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-018-0540-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956072PMC
May 2018
1 Read