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'Skeletal System - Child' (2158)


Feb
2018

There are multiple skeletal maturity grading systems, but none of them utilizes the phalanges of the foot. To minimize radiation, it would be ideal if one could assess the skeletal maturity of a foot based on bones seen on routine foot radiographs, if guided growth is being considered as a treatment option. We developed a system that correlates changes of the appearance of the foot phalanges to peak height velocity (PHV) and the recently described calcaneal apophyseal ossification grading system.

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Feb
2018

We investigate the thenar and plantar sesamoids as markers of skeletal maturity, and grade appearance using two scales, a binary system (absent or present), and an analogue system that relies upon judging regular changes in morphological appearance.
We studied 94 healthy children (49 female and 45 male patients) between ages three and 18 years who had approximately 700 serially acquired sets of radiographs and physical examinations. The children had at least annual radiographs taken of the left hand and left foot.

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Feb
2018

Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA). Notably, mutations were observed in different functional domains: in addition to three catalytic domain mutations, two missense mutations were found in the auto-inhibitory (AI) domain.

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Feb
2018

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

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Feb
2018

Bcl-2-associated athanogene 3 (BAG3) is strongly expressed in both cardiac and skeletal muscle. A recent study showed that BAG3 may play a protective role in muscles. Little is known, however, regarding the detailed role of BAG3 in cardiac muscle.

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Feb
2018

Bone age assessment (BAA) is a commonly performed diagnostic study in pediatric radiology to assess skeletal maturity. The most commonly utilized method for assessment of BAA is the Greulich and Pyle method (Pediatr Radiol 46.9:1269-1274, 2016; Arch Dis Child 81.

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Feb
2018

The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling.

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Dec
1969

There is increasing evidence of persistent effects of early life vitamin D exposure on later skeletal health; linking low levels in early life to smaller bone size in childhood as well as increased fracture risk later in adulthood, independently of later vitamin D status. A major determinant of bone mass acquisition across all ages is mechanical loading. We tested the hypothesis in an animal model system that early life vitamin D depletion results in abrogation of the response to mechanical loading, with consequent reduction in bone size, mass and strength during both childhood and adulthood.

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Dec
1969

Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity.

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Dec
1969

Adolescent idiopathic scoliosis, a lateral curvature of the spine of unknown cause with a Cobb angle of at least 10°, occurs in children and adolescents aged 10 to 18 years. Idiopathic scoliosis is the most common form and usually worsens during adolescence before skeletal maturity. Severe spinal curvature may be associated with adverse long-term health outcomes (eg, pulmonary disorders, disability, back pain, psychological effects, cosmetic issues, and reduced quality of life).

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Dec
2017

Lack of awareness and recognition of child maltreatment is the major reason behind underreporting. All victims often interact with the health care system for routine or emergency care. In several research works, non-accidental fractures are the second most common injury in maltreated children and it is represented up to one-third of cases.

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Jan
2018

Atrial fibrillation (AF) is a common cardiac arrhythmia and a major risk factor for stroke, heart failure, and premature death. The pathogenesis of AF remains poorly understood, which contributes to the current lack of highly effective treatments. To understand the genetic variation and biology underlying AF, we undertook a genome-wide association study (GWAS) of 6,337 AF individuals and 61,607 AF-free individuals from Norway, including replication in an additional 30,679 AF individuals and 278,895 AF-free individuals.

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Dec
1969

Little is known about thenar dysplasia in radial polydactyly, other than that thenar hypoplasia occasionally occurs in radial polydactyly with triphalangism. In particular, the phenotype and level of duplication associated with thenar dysplasia remain unclear.
The abductor pollicis brevis and flexor pollicis brevis muscles were visualized using three-dimensional ultrasound, and their horizontal geometry was assessed using a biaxial level classification system.

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Dec
2017

Mineralization of bones and teeth is tightly regulated by levels of extracellular inorganic phosphate (P) and pyrophosphate (PP). Three regulators that control pericellular concentrations of Pand PPinclude tissue-nonspecific alkaline phosphatase (TNAP), progressive ankylosis protein (ANK), and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Inactivation of these factors results in mineralization disorders affecting teeth and their supporting structures.

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Dec
2017

Child occupant safety in motor-vehicle crashes is evaluated using Anthropomorphic Test Devices (ATD) seated in optimal positions. However, child occupants often assume suboptimal positions during real-world driving trips. Head impact to the seat back has been identified as one important injury causation scenario for seat belt restrained, head-injured children (Bohman et al.

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Mar
2018

Central sensitization (CS) involves the amplification of neural signaling within the central nervous system, which evokes pain hypersensitivity. The Central Sensitization Inventory (CSI) assesses 25 overlapping health-related symptom dimensions that have been reported to be associated with CS-related disorders. Previous studies have reported satisfactory test-retest reliability and internal consistency, but factor analyses have exhibited conflicting results in different language versions.

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Nov
2017

Vici syndrome is a rare, under-recognised, relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and oculocutaneous hypopigmentation. In addition, three equally consistent features (profound developmental delay, progressive failure to thrive and acquired microcephaly) are highly supportive of the diagnosis. Since its recognition as a distinct entity in 1988, an extended phenotype with sensorineural hearing loss, skeletal myopathy and variable involvement of virtually any organ system, including the lungs, thyroid, liver and kidneys, have been described.

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Mar
2018

Enzyme replacement therapy (ERT) is a newly approved disease-modifying treatment for hypophosphatasia (HPP), a rare metabolic bone disorder. With an orphan drug and ultra-rare disease, sharing information about responders and non-responders is particularly important, as any one centre's familiarity with its use will be limited. Nearly all published data in infants and very young children with life-threatening HPP are from three small clinical trials that have reported generally positive outcomes.

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Mar
2018

Leigh syndrome, French-Canadian type is unique to patients from a genetic isolate in the Saguenay-Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic crisis and severe neurological morbidity in infancy caused by LRPPRC mutation.

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Dec
1969

Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients.
Forty-six patients from different families were prospectively enrolled.

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Dec
1969

Eosinophilic granuloma is a localized form of Langerhans cell histiocytosis, most commonly involving the skeletal system. Their origin from the dura is rare with only a handful of cases on record. We present one such rare case of an eosinophilic granuloma originating from the dura mater with secondary osseous invasion in an 11-year-old female child who presented with a swelling in the right parietal region.

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Jan
2018

In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism.

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Jan
2018

This cross-sectional investigation evaluates the reliability of estimating medial gastrocnemius anatomical cross-sectional area (aCSA) in typically developing and spastic cerebral palsy (SCP) cohorts. It verifies whether muscle volume estimations based on aCSA improve when aCSA is multiplied by muscle-tendon unit (MTU) or muscle length, and whether the resulting errors in volume estimations are smaller than changes after intervention.
Fifteen typically developing children (mean age 8y 2mo [SD 1y 5mo], six males, nine females) and 30 children with SCP (mean age 9y 2mo [SD 2y 5mo], 22 males, eight females, Gross Motor Function Classification System [GMFCS] level I=15, II=15) participated in the investigation.

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Jan
2018

Physiological changes during embryonic development are associated with changes in the isoform expression of both myocyte sarcomeric proteins and of erythrocyte haemoglobins. Cell type-specific isoform expression of these genes also occurs. Although these changes appear to be coordinated, it is unclear how changes in these disparate cell types may be linked.

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Dec
1969

Skeletal metastases are severe complications in the course of cancer, and they indicate a worse prognosis. The use of modern imaging techniques allows rapid diagnosis of bone metastases. Properly selected diagnostic imaging (scintigraphy, positron emission tomography, whole body MRI) allows us to evaluate the number of metastatic foci in the skeletal system.

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Sep
2017

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth.

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Nov
2017

We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis.
We studied biochemistry in muscle and fibroblasts, performed mutation analysis, assessed physiological responses to forearm and cycle-ergometer exercise combined with stable-isotope techniques and indirect calorimetry, and evaluated the effect of IV glucose infusion and oral sucrose ingestion on the exercise response.
Phosphoglucomutase type 1 (PGM1) activity in muscle and fibroblasts was severely deficient and PGM1 in muscle was undetectable by Western blot.

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Sep
2017

Accurate skeletal maturity assessment is important to guide clinical evaluation of idiopathic scoliosis, but commonly used methods are inadequate or too complex for rapid clinical use. The objective of the study was to propose a new simplified staging method, called the thumb ossification composite index (TOCI), based on the ossification pattern of the 2 thumb epiphyses and the adductor sesamoid bone; to determine its accuracy in predicting skeletal maturation when compared with the Sanders simplified skeletal maturity system (SSMS); and to validate its interrater and intrarater reliability.
Hand radiographs of 125 girls, acquired when they were newly diagnosed with idiopathic scoliosis prior to menarche and during longitudinal follow-up until skeletal maturity (a minimum of 4 years), were scored with the TOCI and SSMS.

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Jan
2017

Our aim is to present the treatment of one of the skeletal manifestations of Jeune's syndrome (JS), the hypoplastic chest, which can result in thoracic insufficiency syndrome and present "on-demand" stage surgical technique using mandible locking plate system for the fixation of ribs. The diagnosis "Jeune's syndrome" was presented clinically in a 3-month-old girl from a family in which the first child died of JS at the age of 18 months. After close follow-up for several months and preoperative planning, we decided to make reconstructive chest operation with atypical use of a double-angled mandible locking plate for fixation.

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Aug
2017

Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure.

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Dec
1969

To assess the changes in phosphodiester (PDE)-levels, detected by 31P magnetic resonance spectroscopy (MRS), over 24-months to determine the potential of PDE as marker for muscle tissue changes in Duchenne Muscular Dystrophy (DMD) patients.
Spatially resolved phosphorous datasets were acquired in the right lower leg of 18 DMD patients (range: 5-15.4 years) and 12 age-matched healthy controls (range: 5-14 years) at three time-points (baseline, 12-months, and 24-months) using a 7T MR-System (Philips Achieva).

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Jul
2017

Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors is an attractive strategy to treat DMD. Here we show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) is effective in restoring dystrophin expression and stabilizing clinical symptoms in studies performed on a total of 12 treated golden retriever muscular dystrophy (GRMD) dogs.

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Jul
2017

Muscle fascicles lengthen in response to chronic passive stretch through in-series sarcomere addition in order to maintain an optimum sarcomere length. In turn, the muscles' force generating capacity, maximum excursion, and contraction velocity is enhanced. Thus, longer fascicles suggest a greater capacity to develop joint power and work.

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Jul
2017

Soft tissues tumours are tumours of mesenchymal origin excluding epithelial, skeletal tissue, reticuloendothelial system, brain coverings and solid viscera of the body. The objective of this study was to know the histopathological pattern of soft tissues tumours in the Pathology Department of Lady Reading Hospital Peshawar Khyber Pakhtunkhwa Pakistan.
This descriptive study was conducted on retrospective data from January 2009 to December 2013.

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Jun
2017

Retrospective observational study.
The aim of this study was to assess the distribution of age and site of infection in patients with musculoskeletal tuberculosis (TB) and determine the number of TB/human immunodeficiency virus (HIV) coinfections as well as the incidence of multidrugresistant (MDR) TB.
Of all TB cases, 1%-3% show skeletal system involvement and 30% are HIV coinfected.

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Jul
2017

We describe long-term functional, neurodiagnostic, and psychosocial outcomes of a cohort of 12 children from Colorado diagnosed with acute flaccid myelitis (AFM) in 2014.
Children were assessed every 3 months for 1 year or until clinical resolution. Assessments included neurologic examination, MRI, EMG/nerve conduction studies (NCS), functional measures (Assisting Hand Assessment, Hammersmith Functional Motor Scale), and Patient-Reported Outcomes Measurement Information System questionnaires.

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Jun
2017

The associations of age and sex with phenotypic features of Marfan syndrome have not been systematically examined in a large cohort of both children and adults.
We evaluated 789 Marfan patients enrolled in the National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry (53% male; mean age 31 [range: 1-86 years]). Females aged ≥15 and males aged ≥16 years were considered adults based on average age of skeletal maturity.

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Dec
2016

Fibrodysplasia Ossificans Progressiva is a rare debilitating disorder of the musculoskeletal system affecting one in two million individuals. It is characterized by progressive extraskeletal ossification of soft tissues resulting in the original skeleton being encased in unyielding new bone leading to disability and ultimately death from cardiorespiratory failure. The present case brings to light the delays and potential pitfalls in diagnosis as a result of the rarity of the condition.

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Dec
2016

A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period.

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Jun
2017

The purpose of the study was to evaluate the treatment effects of functional appliances (FAs) on upper airway dimensions in growing Class II patients with mandibular retrognathism.
Five databases and the references of identified articles were electronically searched for relevant studies that met our eligibility criteria. The quality of the included studies was assessed using the Newcastle-Ottawa Scale.

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Dec
1969

AYUSH, an acronym for Ayurveda, Yoga and Naturopathy, Unani, Siddha, Sowa-Rigpa and Homeopathy represents the alternative systems of medicine recognized by the Government of India. Understanding the patterns of utilization of AYUSH care has been important for various reasons including an increased focus on its mainstreaming and integration with biomedicine-based health care system. Based on a nationally representative health survey 2014, we present an analysis to understand utilization of AYUSH care across socioeconomic and demographic groups in India.

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Dec
1969

To assess differences in body composition according to gross motor function in children with cerebral palsy (CP) compared with healthy controls.
Retrospective case-control study.
Tertiary referral center for CP.

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Aug
2017

Skeletal muscle precursor cells (MPCs) are considered a key candidate for cell therapy in the treatment of skeletal muscle dysfunction due to injury, disease, or age. However, expansion of a sufficient number of functional skeletal muscle cells in vitro from a small tissue biopsy has been challenging due to changes in phenotypic expression of these cells under traditional culture conditions. Thus, the aim of the study was to develop a better culture system for the expansion and myo-differentiation of MPCs that could further be used for therapy.

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Apr
2017

Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases worldwide.
An 11-year-old Saudi male child presented with tetany with otherwise normal neurological and other body system examination diagnoses severe hypocalcemia for differential diagnosis.
Further investigations revealed hyperphosphatemia and undetectable serum intact parathyroid hormone.

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Dec
1969

Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, muscle weakness and bone dysplasia as well as high myopia, with evidence of clinical improvement of motor function over time in the surviving patient.

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Jun
2017

We describe a novel frameshift mutation in the mitochondrial ATP6 gene in a 4-year-old girl associated with ataxia, microcephaly, developmental delay and intellectual disability. A heteroplasmic frameshift mutation in the MT-ATP6 gene was confirmed in the patient's skeletal muscle and blood. The mutation was not detectable in the mother's DNA extracted from blood or buccal cells.

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May
2017

Allgrove or triple A syndrome is a rare autosomal recessive disorder that can present with a variable range of multi-system manifestations, including optic atrophy, cerebellar ataxia, upper and lower motoneuron signs and various neuropathic abnormalities. These cases are a diagnostic challenge, particularly when the eponymous combination of achalasia, Addisonianism and alacrima is incomplete. Therefore, it is in the differential diagnosis for multisystem conditions and should be known to pathologists who diagnose disorders of skeletal muscle.

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Jul
2017

The objective of this study was to assess the psychometric properties of the Dutch-Flemish Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function item bank in Dutch patients with chronic pain.
A bank of 121 items was administered to 1,247 Dutch patients with chronic pain. Unidimensionality was assessed by fitting a one-factor confirmatory factor analysis and evaluating resulting fit statistics.

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Dec
1969

Vitamin D is important for bone mass accrual during growth. Additionally, it is considered a requirement for a multitude of processes associated with, for example, the development of immunity. Many countries apply vitamin D supplementation strategies in infants, but the guidelines are not based on scientific evidence and aim at prevention of rickets.

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