About 1,945 results

ALLMedicine™ Skeletal Dysplasia Center

Research & Reviews  751 results

Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Pat...
Journal of Clinical Immunology; Golwala ZM, Bhat NG et. al.

Mar 18th, 2023 - There is a lack of data on post-HSCT non-osteopenic bone pathology specifically for children with inborn errors of immunity (IEI). We collected data on non-osteopenic bone pathology in children with IEI post-HSCT over two decades in a large tertia...

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multination...
Orphanet Journal of Rare Diseases; Maghnie M, Semler O et. al.

Mar 17th, 2023 - Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of acho...

Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders.
Journal of Bone and Mineral Research : the Official Journ... Batkovskyte D, McKenzie F et. al.

Mar 11th, 2023 - Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356) is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through inte...

The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clinical Genetics; Pagnamenta AT, Belles RS et. al.

Mar 11th, 2023 - PKDCC encodes a component of Hedgehog signalling required for normal chondrogenesis and skeletal development. Although biallelic PKDCC variants have been implicated in rhizomelic shortening of limbs with variable dysmorphic features, this associat...

Predictors of rod length gain and sagittal alignment change after magnetically controll...
Spine Asma A, Fralinger D et. al.

Mar 2nd, 2023 - Retrospective cohort. There are preoperative characteristics that predict rod lengthening of magnetically controlled growing rods (MCGR). Lengthening of MCGR will lead to increased kyphosis. The amount of length gained by MCGR is variable, and pre...

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Guidelines  2 results

ACR Appropriateness Criteria® Scoliosis-Child.
Journal of the American College of Radiology : JACR; , Jones JY et. al.

May 6th, 2019 - Scoliosis is frequently encountered in childhood, with prevalence of 2%. The majority is idiopathic, without vertebral segmentation anomaly, dysraphism, neuromuscular abnormality, skeletal dysplasia, tumor, or infection. As a complement to clinica...

Best practice guidelines regarding prenatal evaluation and delivery of patients with sk...
American Journal of Obstetrics and Gynecology; Savarirayan R, Rossiter JP et. al.

Jul 27th, 2018 - Skeletal dysplasia comprises a heterogeneous and collectively common group of inherited disorders of development, growth, and maintenance of the human skeleton. There is potential for increased perinatal morbidity and mortality in pregnant women w...

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Clinicaltrials.gov  13 results

Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)

Feb 13th, 2023 - Gangliosidosis: Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nerv...

Examining the Effect of Burosumab on Muscle Function

Oct 10th, 2022 - X-linked hypophosphatemia is a skeletal dysplasia. The mineralized tissue complications of XLH have been the focus of investigative studies seeking to understand its pathogenesis, as well as studies directed at new therapies. However, in addition ...

Non-invasive Functional Assessment and Pathogenesis of Morquio A

Mar 17th, 2022 - Mucopolysaccharidosis IVA (MPS IVA, Morquio A Disease) is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfate sulfatase (GALNS). GALNS catalyzes the degradation of the glycosaminoglyc...

Assessment of Glypican 3 as Apredictive Marker in Colorectal Cancer Patients

Jan 13th, 2022 - Colorectal cancer (CRC) is the third most common malignancy and the fourth most prominent cause of cancer-related deaths worldwide. Also it is the 7th commonest cancer in Egypt, representing 3.47% of male cancers and 3% of female cancers.The Glypi...

Gene Therapy in Patients With Mucopolysaccharidosis Disease

Dec 6th, 2021 - Mucopolysaccharidosis type VI disease is involved in Lysosomal Storage Disorder. The MPS VI disease is characterized by growth retardation, corneal clouding, cardiac valve disease, organomegaly, skeletal dysplasia, without central nervous system i...

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News  6 results

Crown-chin length to crown-rump length ratio could help screen skeletal dysplasia in first trimester

Jan 19th, 2022 - Key clinical point: Increased fetal crown-chin length (CCL)/crown-rump length (CRL) ratio at 11-14 weeks’ gestation was significantly associated with an increased risk for skeletal dysplasia and could help screen the same in the first trimester. M.

New Gene in Rare Childhood Osteoporosis May Inform Drug Discovery

Feb 28th, 2019 - A Finnish research group has identified a mutation in the SGMS2 gene — which encodes an enzyme involved in sphingolipid metabolism — in 13 children with childhood-onset osteoporosis or skeletal dysplasia in six unrelated families. "Our gene [mutat...

Multigene test panel helps diagnose fetal skeletal abnormalities
Michele G. Sullivan

Feb 15th, 2018 - DALLAS – A multigene skeletal dysplasia panel detected pathogenic variants in 55% of fetal tissue samples with abnormal ultrasound findings and correctly predicted fetal lethality or viability in 75% of these. The prenatal skeletal dysplasia panel.

Patients with ASD may have lower cancer risk
HT Staff

Apr 17th, 2016 - Investigator in the lab Photo by Darren Baker New research suggests that patients diagnosed with an autism spectrum disorder (ASD) have a higher burden of mutations in oncogenes but lower rates of cancer than the rest of the population. Investigat.

Progeria: Hope for the Children Whose Bodies Age Too Fast?

Mar 1st, 2013 - Zoey Penny is 42 months old. She may not make it to 13. She has Hutchinson-Gilford progeria syndrome, progeria for short. It ages children rapidly. Children younger than 10 may have the arteries of a 60-year-old. Children with progeria appear heal...

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Patient Education  6 results see all →