PubMed · 13628008
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F C McLEAN, A M BUDY. 1959. Connective and supporting tissues: bone.. https://doi.org/10.1146/annurev.ph.21.030159.000441
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Melorheostosis is a non-hereditary disorder involving the bones in a segmental pattern, whereas osteopoikilosis is a rather mild disseminated bone disorder inherited as an autosomal dominant trait. Interestingly, melorheostosis and osteopoikilosis may sometimes occur together. In analogy to various autosomal dominant skin disorders for which a type 2 segmental manifestation has been postulated, melorheostosis may be best explained in such cases as a type 2 segmental osteopoikilosis, resulting from early loss of the corresponding wild type allele at the gene locus of this autosomal dominant bone disorder.
Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic paraparesis mapped to chromosome 11q12-q14 (SPG17) in which spasticity of the legs is accompanied by amyotrophy of the hands and occasionally also the lower limbs. Silver syndrome and most forms of dHMN are autosomal dominantly inherited with incomplete penetrance and a broad variability in clinical expression. A genome-wide scan in an Austrian family with dHMN-V (ref. 4) showed linkage to the locus SPG17, which was confirmed in 16 additional families with a phenotype characteristic of dHMN or Silver syndrome. After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L. Null mutations in BSCL2, which encodes the protein seipin, were previously shown to be associated with autosomal recessive Berardinelli-Seip congenital lipodystrophy (OMIM #269700). We show that seipin is an integral membrane protein of the endoplasmic reticulum (ER). The amino acid substitutions N88S and S90L affect glycosylation of seipin and result in aggregate formation leading to neurodegeneration.
OBJECTIVES: Postmenopausal osteoporosis is becoming a major problem for healthcare institutions as it has a growing social and economic impact. The incidence of osteoporotic fractures is constantly increasing due to the increase in life expectancy. The gynaecologist plays an important role in establishing a "biological zero" in each perimenopausal patient, and controlling the rate of bone loss during postmenopausal period. RESULTS: Dual energy X-ray absorptiometry (DXA) has been widely used for the diagnosis and management of osteoporosis and represents a strong risk factor for fractures, but it presents several limitations with regards to diagnosis, treatment follow-up and differential diagnosis of secondary osteoporosis. In these last years quantitative ultrasound (QUS) technique has been introduced for the evaluation of bone status in postmenopausal women and several in vitro and clinical studies have demonstrated the reliability of the examination in terms of: reproducibility, evaluation of fracture risk, treatment follow-up, differential diagnosis. QUS has proven to be equally capable in the prediction of future osteoporosis related fractures in comparison to DXA. Large-scale cross-sectional and longitudinal studies have demonstrated the applicability of QUS in screening the female population during the climacteric period. QUS technique seems to be very efficient in identifying "fast losers", identifying subjects at risk for osteoporosis requiring second-level investigation (DXA, X-ray), diagnosing secondary osteoporosis. CONCLUSION: If QUS is used in a systematic and rational manner in clinical practice, it is a valid technique for the prevention of osteoporosis in postmenopausal women.