INTRODUCTION Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported ...

Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance is unclear, although autosomal dominant mutations have been proposed. The disease presentation is usually in infancy and early childhood with a characteristic phenotype of short stature, abnormal skin and nail, beaked nose, loss of subcutaneous f...

signed by Lord Herschell, the Chairman; Judge Meadows White, Q.C.; Mr. John S. Dugdale, Q.C.; Sir Edwin Galsworthy, Chairman of the Metropolitan Asylums Board ; Sir Charles Dalrymple, M.P.; Mr. Samuel Whitbread, exM.P.; and Mr. John A. Bright, ex-M.P. It is also signed by the following members of the medical profession : Sir James Paget, Bart.; Sir W. Guyer Hunter, ex-M.P.; Prof. Michael Foster...

Mutations in genes can lead to a variety of phenotypes, including various human diseases. Students often understand that particular mutation single gene causes disease phenotype, but it is more challenging illustrate complex genetic concepts such as similar mutations the same cause very different phenotypes or different phenotypes. We originally designed this lesson build off Cours...

A common feature of progeria syndromes is a premature aging phenotype and an enhanced accumulation of DNA damage arising from a compromised repair system. HGPS (Hutchinson-Gilford progeria syndrome) is a severe form of progeria in which patients accumulate progerin, a mutant lamin A protein derived from a splicing variant of the lamin A/C gene (LMNA). Progerin causes chromatin perturbations whi...

Prosthodontic rehabilitation can be accomplished with fixed, overdenture, complete, or implant-retained prostheses. Dental treatment overcomes the patient's functional, psychological, esthetic and phonation problems. Remaining healthy teeth may allow the dentist to fabricate a removable partial overdenture, fixed partial prosthesis or implant - supported prosthesis. The retention of a number of...

HGPS (Hutchinson-Gilford progeria syndrome) is a rare genetic disease affecting children causing them to age and die prematurely. The disease is typically due to a point mutation in the coding sequence for the nuclear intermediate-type filament protein lamin A and gives rise to a dominant-negative splice variant named progerin. Accumulation of progerin within nuclei causes disruption to nuclear...