scholarly journals Skeletal and Metabolic Bone Disorders with special reference to African Americans

2021 ◽  
Vol 3 (1) ◽  
pp. 01-03
Author(s):  
Prabir Mandal ◽  
Noor Islam ◽  
Anita Mandal
Keyword(s):  
Developmental Disorders ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Bone Diseases ◽  
Living Tissue ◽  
Bone Disorders ◽  
Skeletal Dysplasias ◽  
The Past ◽  
Metabolic Bone ◽  
Rare Bone Diseases

The human skeleton is living tissue that is either growing or being renewed. Our understanding of the pathogenesis of bone disorders has progressed considerably over the past 37 years. A large number of genetic and developmental disorders affect the skeleton. Rare bone diseases account for 5% of all birth defects. The skeletal dysplasias are inherited in an autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant, and Y-linked manner.

Bone diseases, skeletal dysplasias, disorders of collagen

2012 ◽  
Keyword(s):  
Connective Tissue ◽  
Bone Fragility ◽  
Bone Diseases ◽  
Dentinogenesis Imperfecta ◽  
Low Bone Mass ◽  
Bone Deformity ◽  
Metabolic Bone Diseases ◽  
Skeletal Dysplasias ◽  
Metabolic Bone ◽  
Collagen Genes

Metabolic bone diseases 330Skeletal dysplasias 333The osteochondroses 343Heritable disorders of connective tissue 346• Principal features are bone fragility and low bone mass leading to fractures and bone deformity with growth retardation.• Ligamentous laxity, dentinogenesis imperfecta, and blue scleral hue are variable features. 90% of OI dominantly inherited due to defects in the type ↑ collagen genes ...

Genetic Causes of Hydrops Fetalis

PEDIATRICS ◽  
1992 ◽  
Vol 89 (1) ◽  
pp. 81-86
Author(s):  
Lionel Van Maldergem ◽  
Eric Jauniaux ◽  
Catherine Fourneau ◽  
Yves Gillerot
Keyword(s):  
Chromosomal Abnormality ◽  
Inborn Errors Of Metabolism ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Hydrops Fetalis ◽  
Fetal Hydrops ◽  
Inborn Errors ◽  
Skeletal Dysplasias ◽  
Genetic Causes

A series of 1790 fetal and neonatal autopsies performed between 1976 and 1988 were retrospectively investigated for the presence of hydrops. Thirty (5.5%) and 35 (2.8%) cases of hydrops were found in the groups of fetal and neonatal autopsies, respectively. Genetic causes accounted for 35%. A careful search for previously reported genetic causes of fetal hydrops indicated 64 different etiologies. Twenty-one of them were not mentioned in the previous reviews: these include 9 skeletal dysplasias, 5 inborn errors of metabolism, 3 autosomal recessive, 3 autosomal dominant conditions, and 1 chromosomal abnormality

Bone diseases, skeletal dysplasias, and collagen disorders

2018 ◽  
Author(s):  
Brogan Foster ◽  
Paul A. Brogan
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Avascular Necrosis ◽  
Marfan Syndrome ◽  
Bone Densitometry ◽  
Bone Diseases ◽  
Radiological Findings ◽  
Metabolic Bone Diseases ◽  
Skeletal Dysplasias ◽  
Metabolic Bone

This chapter provides detailed clinical descriptions and treatment guidance for metabolic bone diseases, skeletal dysplasias, the osteochondroses, and heritable disorders of connective tissue. It provides updated descriptions of osteoporosis (both primary and secondary), rickets, osteopetrosis, avascular necrosis, and guidance on the use of bone densitometry in children. An extensive description of the skeletal dysplasias is provided, including a table for easy reference summarising the principal clinical features, radiological findings, and genetics of more commonly encountered conditions. Comprehensive clinical descriptions of the osteochondroses, including features found on imaging, differential diagnoses, important clinical pitfalls to be wary of, and treatment recommendations are provided. The heritable disorders of connective tissue are described in detail, and fully updated with current nosology, including Ehlers–Danlos syndromes, Marfan syndrome, and osteogenesis imperfecta.

Skeletal dysplasias

2013 ◽  
Author(s):  
B. P. Wordsworth
Keyword(s):  
Bone Formation ◽  
Developmental Disorders ◽  
Bone Matrix ◽  
Cell Signalling ◽  
Bone Diseases ◽  
Metabolic Disturbances ◽  
Skeletal Dysplasias ◽  
Transient Nature ◽  
The Matrix ◽  
Genes Encoding

Bone is metabolically active throughout life and metabolic disturbances may have wide-ranging consequences that are not restricted to altering its mechanics. The study of some genetic bone diseases has already provided remarkable insights into the normal regulation of bone metabolism. Skeletal dysplasias are developmental disorders of the chondro-osseous tissues commonly resulting in short stature, which is often disproportionate. The underlying mutations are often in the structural genes encoding components of the matrix but may also involve growth factors or cell signalling. In contrast, the dysostoses tend to affect single bones or groups of bones, reflecting the transient nature of the many different signalling factors to which they are responsive during development. Abnormalities of bone density (high or low) may be due to primary deficiency of bone matrix synthesis (e.g. osteogenesis imperfecta and hypophosphatasia) but may also reflect an imbalance between bone formation and resorption. This may be caused by abnormalities of bone formation (e.g. hyperostosis/sclerosteosis and osteoporosis pseudoglioma syndrome) or bone resorption (e.g. classic osteopetrosis and fibrous dysplasia).

Skeletal dysplasias

2013 ◽  
pp. 1283-1292
Author(s):  
B. P. Wordsworth
Keyword(s):  
Bone Formation ◽  
Developmental Disorders ◽  
Bone Matrix ◽  
Bone Diseases ◽  
Metabolic Disturbances ◽  
Skeletal Dysplasias ◽  
Transient Nature ◽  
The Matrix ◽  
Genes Encoding ◽  
The Many

Bone is metabolically active throughout life and metabolic disturbances may have wide-ranging consequences that are not restricted to altering its mechanics. The study of some genetic bone diseases has already provided remarkable insights into the normal regulation of bone metabolism. Skeletal dysplasias are developmental disorders of the chondro-osseous tissues commonly resulting in short stature, which is often disproportionate. The underlying mutations are often in the structural genes encoding components of the matrix but may also involve growth factors or cell signalling. In contrast, the dysostoses tend to affect single bones or groups of bones, reflecting the transient nature of the many different signalling factors to which they are responsive during development. Abnormalities of bone density (high or low) may be due to primary deficiency of bone matrix synthesis (e.g. osteogenesis imperfecta and hypophosphatasia) but may also reflect an imbalance between bone formation and resorption. This may be caused by abnormalities of bone formation (e.g. hyperostosis/sclerosteosis and osteoporosis pseudoglioma syndrome) or bone resorption (e.g. classic osteopetrosis and fibrous dysplasia).

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Is oral health correlated with skeletal phenotype in primary metabolic bone diseases? A preliminary report of the Greek experience

2019 ◽  
Author(s):  
Artemis Doulgeraki ◽  
Margarita Gatzogianni ◽  
Andreas Agouropoulos ◽  
Helen Athanasopoulou ◽  
Georgios Polyzois ◽  
...  
Keyword(s):  
Oral Health ◽  
Preliminary Report ◽  
Bone Diseases ◽  
Metabolic Bone Diseases ◽  
Metabolic Bone ◽  
Skeletal Phenotype

scholarly journals 18F-Sodium Fluoride PET as a Diagnostic Modality for Metabolic, Autoimmune, and Osteogenic Bone Disorders: Cellular Mechanisms and Clinical Applications

2021 ◽  
Vol 22 (12) ◽  
pp. 6504
Author(s):  
Peter Sang Uk Park ◽  
William Y. Raynor ◽  
Yusha Sun ◽  
Thomas J. Werner ◽  
Chamith S. Rajapakse ◽  
...  
Keyword(s):  
Sodium Fluoride ◽  
Recent Literature ◽  
Imaging Modality ◽  
Bone Diseases ◽  
Skeletal System ◽  
Cellular Mechanisms ◽  
Diagnostic Modality ◽  
Bone Disorders ◽  
Osteoblastic Activity ◽  
Positron Emission

In a healthy body, homeostatic actions of osteoclasts and osteoblasts maintain the integrity of the skeletal system. When cellular activities of osteoclasts and osteoblasts become abnormal, pathological bone conditions, such as osteoporosis, can occur. Traditional imaging modalities, such as radiographs, are insensitive to the early cellular changes that precede gross pathological findings, often leading to delayed disease diagnoses and suboptimal therapeutic strategies. 18F-sodium fluoride (18F-NaF)-positron emission tomography (PET) is an emerging imaging modality with the potential for early diagnosis and monitoring of bone diseases through the detection of subtle metabolic changes. Specifically, the dissociated 18F- is incorporated into hydroxyapatite, and its uptake reflects osteoblastic activity and bone perfusion, allowing for the quantification of bone turnover. While 18F-NaF-PET has traditionally been used to detect metastatic bone disease, recent literature corroborates the use of 18F-NaF-PET in benign osseous conditions as well. In this review, we discuss the cellular mechanisms of 18F-NaF-PET and examine recent findings on its clinical application in diverse metabolic, autoimmune, and osteogenic bone disorders.

scholarly journals ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Neurogenetics ◽  
2021 ◽  
Author(s):  
Katja Kloth ◽  
Bernarda Lozic ◽  
Julia Tagoe ◽  
Mariëtte J. V. Hoffer ◽  
Amelie Van der Ven ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Neuronal Development ◽  
Autosomal Dominant ◽  
Tissue Expression ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Ankyrin G ◽  
Phenotypic Spectrum ◽  
And Function ◽  
Neurodevelopmental Phenotype

AbstractANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes. Autism spectrum disorder has been associated with heterozygous missense variants in ANK3, whereas a more severe neurodevelopmental phenotype is caused by isoform-dependent, autosomal-dominant, or autosomal-recessive loss-of-function variants. Here, we present four individuals affected by a variable neurodevelopmental phenotype harboring a heterozygous frameshift or nonsense variant affecting all ANK3 transcripts. Thus, we provide further evidence of an isoform-based phenotypic continuum underlying ANK3-associated pathologies and expand its phenotypic spectrum.

Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis

Blood ◽  
2002 ◽  
Vol 100 (2) ◽  
pp. 692-694 ◽  
Author(s):  
Daniel F. Wallace ◽  
Palle Pedersen ◽  
Jeannette L. Dixon ◽  
Peter Stephenson ◽  
Jeffrey W. Searle ◽  
...  
Keyword(s):  
Iron Transport ◽  
Autosomal Recessive ◽  
Iron Homeostasis ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Hfe Gene ◽  
Excess Iron ◽  
Chromosome 1Q ◽  
Australian Family ◽  
Autosomal Recessive Pattern

Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.

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