Results 21 to 30 of about 4,224 (165)

Progeria Presenting with Pyogenic Granuloma in Conjunctiva: A Case Report

Journal of Nepal Medical Association, 2023
Hutchinson-Gilford progeria syndrome frequently exhibits stunted growth and premature ageing. Notable ocular characteristics can encompass a large number of ocular abnormalities.
Sanket Parajuli, Sadhana Sharma, Tina Shrestha   +2 more
doaj   +1 more source

Progerinin, an Inhibitor of Progerin, Alleviates Cardiac Abnormalities in a Model Mouse of Hutchinson–Gilford Progeria Syndrome [PDF]

Cells, 2023
Eunju Song, Goo Taeg Oh, Bum-Joon Park
exaly   +2 more sources

Anesthetic management of a child with Hutchinson–Gilford progeria syndrome [PDF]

Journal of Anaesthesiology Clinical Pharmacology
Sunil Rajan, Priyanka Joseph, Gayathri Sreekumar, Maharnab Bhuyan   +3 more
doaj   +2 more sources

Inguinal herniotomy in a patient with progeria

Journal of Pediatric Surgery Case Reports, 2020
Hutchinson–Gilford progeria syndrome or progeria is a rare finding, Herein, we report a 4-year- old boy with progeria who underwent herniotomy and herniorrhaphy for left indirect inguinal hernia.
Tanvir K. Chowdhury, Afruzul Alam, Mohammad Zonaid Chowdhury, Md. Khurshid Alam Sarwar   +3 more
doaj   +1 more source

Hutchinson Gilford Progeria Syndrome

Journal of Dr. NTR University of Health Sciences, 2012
Progeria is a rare disease with short stature and premature aging. The incidence is 1 in 8 million. Though the clinical features are typical, conventional biochemical and radiological features help in confirming the diagnosis. We present a rare case of short-statured female with features of aging and skin manifestations, suggestive of progeria.
Sameeraja Vaddera, Satyanarayana R. Kakollu, Sudhakar Kancharla, Madhuri Cherkuri   +3 more
  +4 more sources

Conservatively managed extradural haematoma in a child with progeria

Interdisciplinary Neurosurgery, 2019
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterised by premature ageing. We report a case of a 13-year-old girl with HGPS who presented with an extradural haematoma following head injury.
Kapil Mohan Rajwani, Christopher G. Kellett, Marium Gul Muhammad, Cristina Bleil, Bassel Zebian   +4 more
doaj   +1 more source

Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

Immunity & Ageing, 2009
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.
da Nóbrega Raphael, Gonçalves Gregório, Falcão-Silva Vivyanne S, Coutinho Henrique   +3 more
doaj   +1 more source

Hutchinson-Gilford progeria syndrome

Indian Journal of Dermatology, Venereology, and Leprology, 2010
Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and ...
Agarwal, Uma Shankar, Sitaraman, S., Mehta, Sharad, Panse, Gauri   +3 more
openaire   +2 more sources

SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria Syndrome

Nature Communications, 2020
Hutchinson-Gilford progeria syndrome is a genetic disease where an aberrant form of Lamin A disrupts chromatin by interfering with lamina associated domains.
Endre Sebestyén, Fabrizia Marullo, Federica Lucini, Cristiano Petrini, Andrea Bianchi, Sara Valsoni, Ilaria Olivieri, Laura Antonelli, Francesco Gregoretti, Gennaro Oliva, Francesco Ferrari, Chiara Lanzuolo   +11 more
doaj   +1 more source

Hutchinson-Gilford syndrome (progeria)

Indian Journal of Dermatology, 2009
Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.
Surjushe Amar, Thakre Minal, Vasani Resham, Saple Dattatray   +3 more
openaire   +2 more sources