mandibuloacral dysplasia with type-B lipodystrophy

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mandibuloacral dysplasia with type-B lipodystrophy

A rare autosomal recessive disorder (OMIM:608612) characterised by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial suture, joint contractures and type-B lipodystrophy, which is characterised by a generalised loss of fat. 

Molecular pathology
Caused by defects of ZMPSTE24, which encodes a zinc metalloproteinase involved in the post-translational proteolytic cleavage of farnesylated prelamin A to form mature lamin A.
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References in periodicals archive ?
Interestingly, the assembly of vimentin microfibrils in MADB fibroblasts improved with rapamycin and dimethylsulfoxide.
We conclude that rapamycin and dimethylsulfoxide are beneficial for improving nuclear morphology and cell proliferation of MADB fibroblasts.
As mentioned in Section 2, the important aim of the stability analysis of delayed GRNs is to determine the MADBs. And the stability criterion that provides bigger MADBs is less conservative than the one that gives smaller ones.
Assume that [[sigma].sub.1] = 0.1, [[sigma].sub.2] = 0.3, [[sigma].sub.d] = 0.7, and [[tau].sub.d] = 1.5 [19], and the MADBs of [[tau].sub.2] with respect to various [[tau].sub.1] obtained by the proposed criteria are given in Table 1, where the MADBs reported in the literature are also listed for comparison.
The MADB is, in many ways, in rather a worse condition than its troubled state-owned siblings.
Under the Thein Sein administration, the MADB has lifted the maximum credit it can advance to cultivators to K100,000 per acre (up to a maximum of K500,000 for holdings of 10 acres or more).
For given [d.sub.m], [alpha], [beta], and [d.sub.d], utilizing Theorem 4, we calculate the MADB [d.sub.M] which can guarantee the stability of system (1).
Table 1: The maximum allowable delay bound (MADB) [h.sub.2] for different values of [gamma].