2,804 results match your criteria Skeletal System - Child

Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.

Orphanet J Rare Dis 2022 Jun 28;17(1):249. Epub 2022 Jun 28.

Department of Orthopedics and Traumatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH), Shenzhen, 518053, Guangdong, China.

Background: Osteogenesis imperfecta (OI) is a rare congenital disorder of the skeletal system, inflicting debilitating physical and psychological distress on patients and caregivers. Over the decades, much effort has been channeled towards understanding molecular mechanisms and developing new treatments. It has recently become more apparent that patient-reported outcome measurements (PROM) during treatment, healing and rehabilitation are helpful in facilitating smoother communication, refining intervention strategies and achieving higher quality of life. Read More

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Translation and Cross-Cultural Adaptation of the Pediatric Outcomes Data Collection Instrument into the Italian Language.

Children (Basel) 2022 Jun 8;9(6). Epub 2022 Jun 8.

Department of Orthopedics and Traumatology, IRCCS Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.

(1) Background: The Pediatric Outcomes Data Collection Instrument (PODCI) is an English-language questionnaire specifically designed to assess health-related quality of life in children and adolescents with musculoskeletal disorders. This scoring system has been translated into several languages. Given the lack of an Italian version of the PODCI, this study aimed to translate, cross-culturally adapt, and assess the psychometric properties of the PODCI score in the Italian pediatric population. Read More

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Hypomelanosis of Ito.

Indian J Pediatr 2022 Jun 22. Epub 2022 Jun 22.

Child Development Clinic, Sir Ganga Ram Hospital, New Delhi, 110060, India.

Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by presence of hypopigmented skin lesions arranged in whorls and streaks following the lines of Blaschko and are often accompanied by abnormalities of the central nervous system, skeletal system, eyes and teeth. Additional symptoms include deafness, hemihypertrophy, cardiac abnormalities, renal malformations, and abnormalities of the genitourinary tract. Read More

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Sedaghatian spondylometaphyseal dysplasia in two siblings.

Eur J Med Genet 2022 Jun 16;65(8):104541. Epub 2022 Jun 16.

Centre for Paediatrics and Child Health, Faculty of Medicine, Imperial College London, London, W2 1PG, UK; North West Thames Genetics Service, Northwick Park and St. Mark's Hospitals, London, HA1 3UJ, UK; Institute of Clinical Sciences, Faculty of Medicine, Imperial College London, London, W12 0NN, UK; MRC London Institute of Medical Sciences, London, UK. Electronic address:

Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal features. We report a new family with two affected siblings and detailed phenotypic description of the affected proband. Read More

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A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.

Orphanet J Rare Dis 2022 06 16;17(1):229. Epub 2022 Jun 16.

Department of Biology, Faculty of Medicine, Masaryk University, Brno, Czech Republic.

Background: Achondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. A total of six other inhibitors of FGFR3 signaling are currently undergoing clinical evaluation for ACH. Read More

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Single nucleotide polymorphism array in genetic evaluation of fetal ultrasound abnormalities: a retrospective follow-up study.

Am J Transl Res 2022 15;14(5):3516-3524. Epub 2022 May 15.

Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

Fetal ultrasound abnormalities may be complicated by cognitive dysfunction or developmental retardation, and ultrasonography cannot detect these problems; therefore, chromosome detection is required in fetuses with ultrasound abnormalities. To examine the effectiveness of single nucleotide polymorphism (SNP) array in genetic diagnosis of fetal ultrasound abnormalities, the prenatal samples of 805 pregnant women with fetal ultrasound abnormalities were collected for SNP array and karyotyping analysis. A 95. Read More

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FDG PET in the differential diagnosis of degenerative parkinsonian disorders: usefulness of voxel-based analysis in clinical practice.

Neurol Sci 2022 Jun 14. Epub 2022 Jun 14.

Nuclear Medicine Unit, Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, 50134, Florence, Italy.

Background: The early differential diagnosis among neurodegenerative parkinsonian disorders becomes essential to set up the correct clinical-therapeutic approach. The increased utilization of [F] fluoro-deoxy-glucose positron emission tomography (FDG PET) and the pressure for cost-effectiveness request a systematic evaluation and a validation of its utility in clinical practice. This retrospective study aims to consider the contribution, in terms of increasing accuracy and increasing diagnostic confidence, of voxel-based FDG PET analyses in the differential diagnosis of these disorders, including Parkinson's disease, multiple system atrophy, progressive supranuclear palsy, and cortico-basal syndrome. Read More

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Skeletal Disease Acquisition in Fibrous Dysplasia: Natural History and Indicators of Lesion Progression in Children.

J Bone Miner Res 2022 Jun 13. Epub 2022 Jun 13.

Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

Fibrous dysplasia (FD) is a rare mosaic disorder resulting in fractures, pain, and disability. Bone lesions appear during childhood and expand during skeletal growth. The rate at which FD lesions progress and the biochemical determinants of FD lesion formation have not been established, making it difficult to investigate and implement preventative therapies. Read More

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Evaluation of Spheno-occipital Synchondrosis Fusion in Chinese Population Using CBCT: A Cross-sectional Study.

J Contemp Dent Pract 2022 Jan 1;23(1):8-13. Epub 2022 Jan 1.

Department of Orthodontics and Dentofacial Orthopedics, School of Stomatology, Lanzhou University, Lanzhou, China, Phone: +8615609310015, e-mail:

Aim: This study sought to assess the fusion of spheno-occipital synchondrosis (SOS) in Chinese population using cone-beam computed tomography (CBCT).

Materials And Methods: This is a cross-sectional study in which data were randomly collected based on the pre-existing institutional records. Following selection criteria, the CBCT images of 500 patients aged 6-25 years (226 males and 274 females) were analyzed. Read More

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January 2022

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221101844

Stanford University, CA, USA.

Pathogenic variants in are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous females may also have features of CLS; however, there can be considerable phenotypic variation, often attributed to ratios of X-inactivation in various tissue types. Although skeletal anomalies and short stature are hallmarks of CLS, hypercalcemia has not been reported. Read More

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Bone Health in Children with Rheumatic Disorders: Focus on Molecular Mechanisms, Diagnosis, and Management.

Int J Mol Sci 2022 May 20;23(10). Epub 2022 May 20.

Department of Pediatrics, University of Chieti, 66100 Chieti, Italy.

Bone is an extremely dynamic and adaptive tissue, whose metabolism and homeostasis is influenced by many different hormonal, mechanical, nutritional, immunological and pharmacological stimuli. Genetic factors significantly affect bone health, through their influence on bone cells function, cartilage quality, calcium and vitamin D homeostasis, sex hormone metabolism and pubertal timing. In addition, optimal nutrition and physical activity contribute to bone mass acquisition in the growing age. Read More

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Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.

Mol Genet Genomics 2022 May 18. Epub 2022 May 18.

Prenatal Diagnosis Center, Hangzhou Maternity and Child Care Hospital, 369 Kunpeng Road, Shangcheng District, Hangzhou, 310008, Zhejiang, China.

Whole exome sequencing (WES) could yield diagnostic significance in the prenatal diagnosis of skeletal abnormalities. But the phenotypes of fetuses with skeletal abnormalities are heterogenous, and the clinical information we could obtain from an ongoing pregnancy is limited, making the prenatal diagnosis complicated. Therefore, the following interpretation and genetic counseling remain a challenge for clinicians. Read More

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Clinical features and ultrasound findings of a rare musculoskeletal system disease-neuromuscular choristoma.

BMC Musculoskelet Disord 2022 May 17;23(1):464. Epub 2022 May 17.

Department of Hand Surgery, Beijing Jishuitan Hospital, Fourth Clinical College of Peking University, No.31 Xinjiekou East Street, Xicheng District, Beijing, 100035, China.

Background: Neuromuscular choristomas (NMCs), are extremely rare developmental lesions that, have been previously established associated with recurrent fibromatosis after surgery, leading to several operations or even amputation. However, reports on the ultrasound imaging features and clinical conditions of NMCs are rare. The purpose of this study is to describe the ultrasound features and clinical analysis of NMCs to provide suggestions to identify the optimal management strategy. Read More

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A statistical shape model of soleus muscle morphology in spastic cerebral palsy.

Sci Rep 2022 05 11;12(1):7711. Epub 2022 May 11.

Auckland Bioengineering Institute, University of Auckland, Auckland, 1010, New Zealand.

This study investigated morphological characteristics of the soleus muscle in cerebral palsy (CP) and typically developing (TD) cohorts using a statistical shape model and differentiated dominant features between the two cohorts. We generated shape models of CP and TD cohorts to characterize dominant features within each. We then generated a combined shape model of both CP and TD to assess deviations of the cohorts' soleuses from a common mean shape, and statistically analysed differences between the cohorts. Read More

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Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.

Orphanet J Rare Dis 2022 05 7;17(1):189. Epub 2022 May 7.

Interventional Radiology, Nemours Children's Hospital, Orlando, FL, USA.

Background: PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients' and caregivers' points of view, from onset to diagnosis to treatment and support. Read More

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Bone mineral density and body composition in normal weight, overweight and obese children.

BMC Pediatr 2022 05 5;22(1):249. Epub 2022 May 5.

Clínica de Osteoporosis del Hospital Civil de Guadalajara "Fray Antonio Alcalde", Guadalajara, Jalisco, México.

Background: There is a possibility that excess body fat affects bone mass gain and may compromise skeletal health in obese children. The purpose of the study was to identify the relationship between bone mineral density (BMD) and body composition in normal weight, overweight and obese children.

Methods: This was a cross-sectional study of 6- to 11-year-old children who attended the hospital's outpatient clinic. Read More

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The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445-1510): does the child have Pompe disease?

Deivis de Campos

Childs Nerv Syst 2022 Jul 3;38(7):1267-1269. Epub 2022 May 3.

Departamento de Ciências Básicas da Saúde, Laboratório de Anatomia Humana, Universidade Federal de Ciências da Saúde de Porto Alegre - UFCSPA, Porto Alegre, RS, Brazil.

Purpose: Current literature describes that art can be used to teach observation skills in medical students. In this way, many medical schools have developed formal observational training on works of art to improve their students' visual diagnostic skills. In this context, this description presents unprecedented evidence that Sandro Botticelli (1445-1510) may have represented a rare neuromuscular disorder, known as Pompe disease (accumulation of lysosomal glycogen primarily in the heart, skeletal muscles, and the nervous system) in one of the characters that make up Virgin and Child with the Infant St. Read More

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Inhibitors of the ubiquitin proteasome system block myofibril assembly in cardiomyocytes derived from chick embryos and human pluripotent stem cells.

Cytoskeleton (Hoboken) 2022 May 2. Epub 2022 May 2.

Department of Cell and Developmental Biology, SUNY Upstate Medical University, Syracuse, New York, USA.

Details of sarcomeric protein assembly during de novo myofibril formation closely resemble myofibrillogenesis in skeletal and cardiac myocytes in birds, rodents, and zebrafish. The arrangement of proteins during myofibrillogenesis follows a three-step process: beginning with premyofibrils, followed by nascent myofibrils, and concluding with mature myofibrils (reviewed in Sanger et al., 2017). Read More

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[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].

Probl Endokrinol (Mosk) 2021 12 12;68(2):72-89. Epub 2021 Dec 12.

Surgut State University.

McCune-Albright-Braitsev Syndrome (MAB syndrome) is a very rare multisystem disease manifested by fibrous bone dysplasia, coffee-and-milk colored spots, hyperfunction of various endocrine glands and a number of pathologies of other body systems. We present a description of a clinical case of a severe progressive course of MAB Syndrome in a nine-year-old girl. With this diagnosis, the girl is observation of the girl began when she was 2. Read More

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December 2021

First report of infection in a paediatric population in Accra, Ghana.

Pan Afr Med J 2022 2;41:95. Epub 2022 Feb 2.

School of Biomedical and Allied Health Sciences, College of Health Sciences, University of Ghana, Legon, Ghana.

Introduction: Kingella kingae is recognized as a frequent source of childhood bacteremia and the commonest agent of skeletal system infections in children 6 months - 4 years old. Several factors, including difficulty in detecting this fastidious organism in routine laboratory assays, result in underdiagnosis of the infections. Species-specific nucleic acid amplification assays, however, significantly improve the detection of K. Read More

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An anatomical classification of congenital proximal radioulnar synostosis based on retrospective MRI measurement combined with radiography.

Sci Rep 2022 04 21;12(1):6585. Epub 2022 Apr 21.

Department of Orthopedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, China.

Existed classifications of congenital proximal radioulnar synostosis (PRUS) mainly focus on osseous changes and do not cover all types of congenital PRUS, ignoring the role and developing status of the supinator. This study aims to explore the correlation between supinator development and radiographic deformity of congenital PRUS. Pediatric patients diagnosed with congenital PRUS in two pediatric Orthopedic centers were evaluated retrospectively. Read More

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Heart Rate Variability Analysis for Seizure Detection in Neonatal Intensive Care Units.

Bioengineering (Basel) 2022 Apr 7;9(4). Epub 2022 Apr 7.

Department of Information Engineering, Università degli Studi di Firenze, Via Santa Marta 3, 50139 Firenze, Italy.

In Neonatal Intensive Care Units (NICUs), the early detection of neonatal seizures is of utmost importance for a timely clinical intervention. Over the years, several neonatal seizure detection systems were proposed to detect neonatal seizures automatically and speed up seizure diagnosis, most based on the EEG signal analysis. Recently, research has focused on other possible seizure markers, such as electrocardiography (ECG). Read More

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Practice Variation in Use of Neuroimaging Among Infants With Concern for Abuse Treated in Children's Hospitals.

JAMA Netw Open 2022 04 1;5(4):e225005. Epub 2022 Apr 1.

Safe Place: Center for Child Protection and Health, Division of General Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Importance: Infants who appear neurologically well and have fractures concerning for abuse are at increased risk for clinically occult head injuries. Evidence of excess variation in neuroimaging practices when abuse is suspected may indicate opportunity for quality and safety improvement.

Objective: To quantify neuroimaging practice variation across children's hospitals among infants with fractures evaluated for abuse, with the hypothesis that hospitals would vary substantially in neuroimaging practices. Read More

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Electromyographic Patterns of Paratonia in Normal Subjects and in Patients with Mild Cognitive Impairment or Alzheimer's Disease.

J Alzheimers Dis 2022 ;87(3):1065-1077

Department of Medical-Surgical Sciences and Biotechnologies, A. Fiorini Hospital, Terracina, LT, Sapienza University of Rome, Polo Pontino, Latina, Italy.

Background: Information on prevalence, pathophysiology, and clinical assessment of paratonia are scarce. In a previous study, we suggested that surface electromyography (EMG) can be used to assess paratonia.

Objective: To assess clinical and EMG features of paratonia in both patients with cognitive impairment and healthy subjects. Read More

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Impact of Obesity on Bone Metabolism in Children.

J Pediatr Endocrinol Metab 2022 May 11;35(5):557-565. Epub 2022 Apr 11.

Department of Pediatrics, Division of Pediatric Endocrinology, Dr Behcet Uz Child Disease and Surgery Training and Research Hospital, Izmir, Turkey.

Obesity is an epidemic disease that can increase the incidence of type 2 diabetes, cardiovascular disease, malignancy, hypertension, and other health problems that affect the musculoskeletal system. There is a complex interaction between obesity and bone metabolism. In children with obesity, the peroxisome proliferator-activated receptor gamma pathway causes the differentiation of mesenchymal stem cells into adipocytes via osteoblasts, in which results in low bone mass and osteoporosis. Read More

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[Algorithms for orthodontic treatment of patients with maxillary constriction based on the stages of formation of the palatal suture].

Stomatologiia (Mosk) 2022 ;101(2):52-62

Central Research Institute of Dentistry and Maxillofacial Surgery, Moscow, Russia.

The Aim Of The Study: Improving the effectiveness of complex orthodontic treatment of patients with constriction and deformation of the upper jaw during the period of replacement and permanent bite based on the analysis of cone-beam computed tomography (CBCT) data.

Materials And Methods: The results of complex treatment of 70 patients with constriction and deformation of the upper jaw during the period of temporary and permanent bite are presented. The patients were divided into groups according to the stage of formation of the midpalatal suture: 1st group - 40 patients with stage «A» and «B» (average age 11. Read More

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Mechanistic Impact of Zinc Deficiency in Human Development.

Front Nutr 2022 9;9:717064. Epub 2022 Mar 9.

Faculty of Chemistry, Institute of Chemistry and Technology of Environmental Protection, Brno University of Technology, Brno, Czechia.

Zinc (Zn) deficiency in humans is an emerging global health issue affecting approximately two billion people across the globe. The situation prevails due to the intake of Zn deficient grains and vegetables worldwide. Clinical identification of Zn deficiency in humans remains problematic because the symptoms do not appear until impair the vital organs, such as the gastrointestinal track, central nervous system, immune system, skeletal, and nervous system. Read More

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Three-dimensional evaluation of soft tissues in hyperdivergent skeletal class II females in Guangdong.

BMC Med Imaging 2022 03 29;22(1):56. Epub 2022 Mar 29.

Hospital of Stomatology, Sun Yat-sen University; Guangdong Provincial Key Laboratory of Stomatology; Guanghua School of Stomatology, Sun Yat-Sen University, Guangzhou, 510055, People's Republic of China.

Objectives: To establish the three-dimensional facial soft tissue morphology of adolescent and adult females in the Guangdong population and to study the morphological characteristics of hyperdivergent skeletal class II females in Guangdong compared with that of normodivergent class I groups.

Materials And Methods: The 3dMDface system was used to capture face scans of 160 patients, including 45 normal and 35 hyperdivergent skeletal class II adolescents (aged 11-14 years old) and 45 normal and 35 hyperdivergent skeletal class II adults (aged 18-30 years old). Thirty-two soft tissue landmarks were mapped, and 21 linear, 10 angular and 17 ratio measurements were obtained by 3dMDvultus analysis software. Read More

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Calcifediol (25OH Vitamin D) Deficiency: A Risk Factor from Early to Old Age.

Nutrients 2022 Mar 10;14(6). Epub 2022 Mar 10.

Clinical Endocrinology, Asociación Colombiana de Osteoporosis, Bogotá 500005, Colombia.

Vitamin D deficiency is the main cause of nutritional rickets in children and osteomalacia in adults. There is consensus that nutritional access to vitamin D can be estimated by measuring serum concentrations of 25OHD and vitamin D deficiency can thus be considered as calcifediol deficiency. However, the threshold for vitamin D/calcifediol sufficiency remains a matter of debate. Read More

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