☆ 4.4 Review

Orthopedic concerns of a child with short stature

CURRENT OPINION IN PEDIATRICS (2022)

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Review Anatomy & Morphology

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues

Ella P. Dennis et al.

Summary: Rare diseases, including genetic skeletal diseases, often lack effective treatments and lead to chronic debilitating conditions. Multiple epiphyseal dysplasia (MED) is a genetically heterogeneous disorder characterized by joint pain and early-onset osteoarthritis. Research into disease mechanisms and potential therapeutic avenues, such as targeting ER stress, are ongoing to address these challenging rare diseases.

DEVELOPMENTAL DYNAMICS (2021)

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Review Pediatrics

Osteogenesis imperfecta: treatment and surgical management

Sofia Hidalgo Perea et al.

Summary: Osteogenesis imperfecta patients require an interdisciplinary and tailored treatment that involves both medical and surgical components. Recent studies have shown that telescoping intramedullary Faisser-Duval rods are effective in correcting long bone deformities with lower revision surgery rates. Early treatment with bisphosphonates followed by surgical intervention using Faisser-Duval rods is recommended based on recent findings.

CURRENT OPINION IN PEDIATRICS (2021)

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Review Endocrinology & Metabolism

FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment

Seiji Fukumoto

Summary: FGF23 is a phosphaturic hormone produced by bone that reduces serum phosphate levels by suppressing phosphate reabsorption and absorption. Elevated FGF23 levels are associated with hypophosphatemic diseases, while patients with chronic hypophosphatemia from other causes have lower FGF23 levels. Various treatment options for diseases caused by excessive actions of FGF23 including TIO have limited effects and adverse events, with the novel therapy of FGF23 inhibition showing promise.

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2021)

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Article Biochemistry & Molecular Biology

Association between serum uric acid and triglycerides in Chinese children and adolescents with short stature

Yuntian Chu et al.

Summary: The study identified a non-linear association between SUA and TG levels in short children and adolescents, which was based on BMI status. This suggests that health status should be considered for short stature children with high SUA levels, especially in children with a high BMI standard deviation score.

LIPIDS IN HEALTH AND DISEASE (2021)

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Article Endocrinology & Metabolism

Endocrine dysfunction in children with Shwachman-Diamond syndrome

Agnieszka Bogusz-Wojcik et al.

Summary: Endocrine dysfunctions, especially growth hormone deficiency, are common in Shwachman-Diamond syndrome (SDS) patients. Both boys and girls with SDS showed significantly lower height and BMI, delayed bone age, and osteopaenia. Longitudinal studies are needed for a better understanding of the etiology and true prevalence of these disorders.

ENDOKRYNOLOGIA POLSKA (2021)

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Article Infectious Diseases

Glutathione Deficiency in HIV-1-Infected Children with Short Stature

Ping Du et al.

Summary: The study aimed to investigate GSH deficiency in HIV-infected children with short stature and its association with growth. The results showed lower erythrocyte GSH levels in HIV-infected children with short stature compared to those with normal height and HIV-negative controls, indicating the importance of GSH balance in growth among HIV-infected children.

JOURNAL OF PEDIATRIC INFECTIOUS DISEASES (2021)

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Article Pediatrics

Incidence of and risk factors for short stature in children with chronic kidney disease: results from the KNOW-Ped CKD

Eujin Park et al.

Summary: The study found that children with CKD in Korea had a higher prevalence of short stature and underweight compared to the general population. Independent risk factors associated with short stature in these children included CKD stages 4 and 5, premature birth, underweight, low birth weight, and low household income. Among these factors, underweight is the only modifiable factor.

PEDIATRIC NEPHROLOGY (2021)

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Article Environmental Sciences

Hypertensive Disorders during Pregnancy (HDP), Maternal Characteristics, and Birth Outcomes among Japanese Women: A Hokkaido Study

Kritika Poudel et al.

Summary: This study found an association between hypertensive disorders during pregnancy (HDP) and adverse birth outcomes, with HDP patients more likely to give birth to babies with small for gestational age, preterm birth, and low birth weight compared to normotensive pregnant women. Additionally, factors such as advanced maternal age, low and high body mass index, smoking exposure, and alcohol consumption could also impact various birth outcomes.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)

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Review Endocrinology & Metabolism

New gene discoveries in skeletal diseases with short stature

Alice Costantini et al.

Summary: The widespread use of massively parallel sequencing in the last decade has led to a significant increase in the number of novel gene discoveries in monogenic skeletal diseases with short stature. Defects in genes related to the maintenance and function of the growth plate are a well-known cause of these diseases, but genes involved in extracellular matrix composition and various biological processes have also been characterized.

ENDOCRINE CONNECTIONS (2021)

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Article Genetics & Heredity

The first European consensus on principles of management for achondroplasia

Valerie Cormier-Daire et al.

Summary: The management of achondroplasia requires a multidisciplinary team approach across the lifetime of the patient, focusing on preventing and managing complications, supporting independent living, and enhancing quality of life.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Genetics & Heredity

Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience

Su Jin Kim et al.

Summary: By targeting 437 genes in a NGS study, clinical and genetic diagnoses were confirmed in 16 out of 31 patients with suspected SD, with a diagnostic yield of 51.9%. Patients with suspected familial SD and radiological evidence had a higher diagnosis rate, while those with skeletal involvement and other clinical manifestations had a lower rate but could still be diagnosed with rare syndromic SD.

FRONTIERS IN GENETICS (2021)

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Review Medicine, General & Internal

Current Overview of Osteogenesis Imperfecta

Mari Deguchi et al.

Summary: Osteogenesis imperfecta is a heterogeneous disorder primarily caused by genetic mutations, potentially fatal in severe cases, where prenatal examinations and genetic testing can aid in diagnosis. Current treatments are not curative, but in utero mesenchymal stem cell transplantation is being explored as a promising therapeutic option for severe cases in the future.

MEDICINA-LITHUANIA (2021)

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Article Pediatrics

DYSMORPHIC features and adult short stature: possible clinical markers of KBG syndrome

Davide Mattei et al.

Summary: KBG syndrome should be considered in cases with characteristic dysmorphic features, intellectual disability, seizures, and hearing problems, as it often presents with adult short stature and a wide spectrum of clinical phenotypes.

ITALIAN JOURNAL OF PEDIATRICS (2021)

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Article Orthopedics

Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and Pseudoachondroplasia?

Aurelie Andrzejewski et al.

Summary: The study evaluated the long-term results of Chiari osteotomy in MED and PSACH patients, showing that this procedure can improve hip lesions, enhance hip function, and delay the need for total hip arthroplasty.

JOURNAL OF PEDIATRIC ORTHOPAEDICS (2021)

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Article Pediatrics

Parental Concerns on Short Stature: A 15-Year Follow-Up

Maria Cristina Murano et al.

JOURNAL OF PEDIATRICS (2020)

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Review Endocrinology & Metabolism

Management of Osteogenesis Imperfecta

Stuart H. Ralston et al.

FRONTIERS IN ENDOCRINOLOGY (2020)

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Article Multidisciplinary Sciences

Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education

Aline Jelenkovic et al.

SCIENTIFIC REPORTS (2020)

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Article Endocrinology & Metabolism

Novel therapeutic approaches for the treatment of achondroplasia

Laurence Legeai-Mallet et al.

BONE (2020)

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Review Endocrinology & Metabolism

Stem Cell Therapy as a Treatment for Osteogenesis Imperfecta

Cecilia Gotherstrom et al.

CURRENT OSTEOPOROSIS REPORTS (2020)

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Review Urology & Nephrology

An Overview of Rickets in Children

Rahul Chanchlani et al.

KIDNEY INTERNATIONAL REPORTS (2020)

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Article Genetics & Heredity

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare typeIIcollagenopathy

Andre M. Travessa et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)

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Review Endocrinology & Metabolism

Delayed and Precocious Puberty: Genetic Underpinnings and Treatments

Anisha Gohil et al.

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2020)

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Article Anesthesiology

A retrospective study to evaluate the anaesthetic choices and complications for patients with osteogenesis imperfecta at a quaternary referral hospital

M. Mohmmad et al.

SOUTHERN AFRICAN JOURNAL OF ANAESTHESIA AND ANALGESIA (2020)

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Review Endocrinology & Metabolism

Deciphering short stature in children

Nella Polidori et al.

ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2020)

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Review Medicine, General & Internal

New developments in the management of achondroplasia

Wolfgang Hoegler et al.

WIENER MEDIZINISCHE WOCHENSCHRIFT (2020)

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Article Genetics & Heredity

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert R. Mortier et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

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Article Endocrinology & Metabolism

The Genetic Basis of Delayed Puberty

Sasha R. Howard et al.

NEUROENDOCRINOLOGY (2018)

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Article Biochemistry & Molecular Biology

Osteogenesis imperfecta and therapeutics

Roy Morello

MATRIX BIOLOGY (2018)

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Article Genetics & Heredity

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

Jun-Seok Bae et al.

GENETICS IN MEDICINE (2016)

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Article Genetics & Heredity

Pseudoachondroplasia and painful sequelae

Candace Gamble et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

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Review Orthopedics

Multiple Epiphyseal Dysplasia

Steven Anthony et al.

JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS (2015)

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Article Orthopedics

Evaluation of the Child with Short Stature

Charles T. Mehlman et al.

ORTHOPEDIC CLINICS OF NORTH AMERICA (2015)

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Review Pediatrics

Approach to Short Stature

Sangeeta Yadav et al.

INDIAN JOURNAL OF PEDIATRICS (2015)

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Article Endocrinology & Metabolism

Syndromic Disorders with Short Stature

Zeynep Siklar et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2014)

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Review Radiology, Nuclear Medicine & Medical Imaging

Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias

Ananya Panda et al.

WORLD JOURNAL OF RADIOLOGY (2014)

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Review Orthopedics

Achondroplasia: Manifestations and Treatment

Eric D. Shirley et al.

JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS (2009)

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Article Radiology, Nuclear Medicine & Medical Imaging

The diagnosis of skeletal dysplasias: a multidisciplinary approach

GR Mortier

EUROPEAN JOURNAL OF RADIOLOGY (2001)

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