Endocrine Functions of Bone

Ferron, Mathieu

doi:10.1007/978-3-319-44675-2_21

Cited by 2 publications

(1 citation statement)

References 82 publications

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“…This syndrome is secondary to biallelic mutations in FAM20 C gene on chromosome 7p22.3 10,13 . Loss‐of‐function mutations in this gene lead to upregulation of Fibroblast Growth Factor 23 which reduces the production of 1.25‐dihydroxyvitamin D and increases phosphate excretion at the level of the kidneys 14,15 . These modifications cause the hypophosphatemia and osteosclerotic bone dysplasia characteristic of this syndrome 15 …”

Section: Introductionmentioning

confidence: 99%

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

Rameh

Mégarbané

Jalbout³

et al. 2022

Prenatal Diagnosis

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Introduction Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of less than 1/1,000,000. It is secondary to pathogenic variants in the FAM20 C gene, located on chromosome 7p22.3. Case report We report a consanguineous family with three affected pregnancies. In the first two, exophthalmos and bone abnormalities were noted, ending in one intra‐uterine demise and one neonatal death, without identifying any genetic disorder. During the couple's most recent pregnancy, fetal anomaly sonogram and fetal CT scan revealed microcephaly, intracranial calcifications, exophthalmos, hypertelorism, depressed nasal bridge, midface hypoplasia and thoracic hypoplasia. Fetal blood sampling for whole exome sequencing revealed a novel pathogenic homozygous variant c.1363+1G > A in the FAM20 C gene associated with Raine syndrome. Delivery occurred at 26 weeks of gestation after rupture of membranes followed by neonatal death due to respiratory failure. Review A review of the distinctive features of Raine syndrome, the contribution of different prenatal imaging modalities (Ultrasound, Computed Tomography and Magnetic Resonance Imaging) in making the diagnosis and the molecular characterization of this disorder is provided.

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Section: Introductionmentioning

confidence: 99%

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

Rameh

Mégarbané

Jalbout³

et al. 2022

Prenatal Diagnosis

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Rethinking Fragility Fractures in Type 2 Diabetes: The Link between Hyperinsulinaemia and Osteofragilitas

2021

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Patients with type 2 diabetes mellitus (T2DM) and/or cardiovascular disease (CVD), conditions of hyperinsulinaemia, have lower levels of osteocalcin and bone remodelling, and increased rates of fragility fractures. Unlike osteoporosis with lower bone mineral density (BMD), T2DM bone fragility “hyperinsulinaemia-osteofragilitas” phenotype presents with normal to increased BMD. Hyperinsulinaemia and insulin resistance positively associate with increased BMD and fragility fractures. Hyperinsulinaemia enforces glucose fuelling, which decreases NAD+-dependent antioxidant activity. This increases reactive oxygen species and mitochondrial fission, and decreases oxidative phosphorylation high-energy production capacity, required for osteoblasto/cytogenesis. Osteocytes directly mineralise and resorb bone, and inhibit mineralisation of their lacunocanalicular space via pyrophosphate. Hyperinsulinaemia decreases vitamin D availability via adipocyte sequestration, reducing dendrite connectivity, and compromising osteocyte viability. Decreased bone remodelling and micropetrosis ensues. Trapped/entombed magnesium within micropetrosis fossilisation spaces propagates magnesium deficiency (MgD), potentiating hyperinsulinaemia and decreases vitamin D transport. Vitamin D deficiency reduces osteocalcin synthesis and favours osteocyte apoptosis. Carbohydrate restriction/fasting/ketosis increases beta-oxidation, ketolysis, NAD+-dependent antioxidant activity, osteocyte viability and osteocalcin, and decreases excess insulin exposure. Osteocalcin is required for hydroxyapatite alignment, conferring bone structural integrity, decreasing fracture risk and improving metabolic/endocrine homeodynamics. Patients presenting with fracture and normal BMD should be investigated for T2DM and hyperinsulinaemia.

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Endocrine Functions of Bone

Cited by 2 publications

References 82 publications

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease

Rethinking Fragility Fractures in Type 2 Diabetes: The Link between Hyperinsulinaemia and Osteofragilitas

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