نتایج جستجو برای: neonatal progeroid syndrome

تعداد نتایج: 695789  

Journal: :In vivo 2005
Marcus Jäger Fritz Thorey Bettina Westhoff Alexander Wild Rüdiger Krauspe

BACKGROUND Wiedemann-Rautenstrauch (neonatal progeroid) syndrome (WRS) is a rare autosomal recessive condition, with the characteristic appearance of premature aging already present at birth and other typical features (hypotrichosis, macrocephaly, mental retardation, aged face, generalized lipoatrophy, abnormal tooth status, osteopenia and other skeletal abnormalities). To date, there are no da...

Journal: :British Journal of Dermatology 2023

Abstract A 27-year-old woman of Pakistani heritage with a background type 2 diabetes, hypertension, hypothyroidism, infertility and Achilles tendinopathy was referred to the dermatology department for diffuse hair loss. She had greying scalp from age 20 years and, on examination, there were signs fragility thinning. Biopsies showed female pattern Topical minoxidil 5% twice daily advised. At con...

2008
Lynne S. Cox

The premature ageing Werner syndrome (WS) is characterized by the early onset of many age related phenotypes, including graying of hair, cataracts, atherosclerosis, cancer and type 2 diabetes. Type 2 diabetes (DM2) is the loss of blood glucose homeostastis, due to insulin resistance and a failure of acute glucose-stimulated insulin secretion (GSIS) by pancreatic cells. Early compensation for in...

خسروی, نسترن, محققی, پریسا,

Neonatal lupus syndrome is a rare disease. The manifestations of this disease in neonatal period include congenital heart block, cutaneous leasions, liver disease, thrombocytopenia, Neutropenia, pulmonary and nurologic derangements. Most of the clinical manifestations ofter disappear spontaneously. Although congenital heart block is usually permanent, and often require pacemakers. Congenital he...

F Farrahi kh karami M Latifi

  Introduction: Neonatal mortality rate is an important index of development in different communities and respiratory distress syndrome is one of the important causes. This study aimed to determine the status and effective demographic  factors of neonatal mortality due to respiratory distress syndrome  in Rural Area of Ahvaz city Iran. Method: It was a case control study of all neonatal death ...

Journal: :Cukurova Medical Journal 2023

Neonatal lupus syndrome (NLS) is a rare disease with dermatological, cardiac, hepatic and hematologic involvement due to placental transfer of anti-Ro/ SSA anti-La/ SSB antibodies in infants mothers autoimmune diseases. Multisystemic common infants. Here we present baby neonatal whose mother had Sjögren's syndrome. He presented thrombocytopenia, then convulsion cardiac arrest pericardial tampon...

Journal: :Endocrine Journal 2021

Werner syndrome, also called adult progeria, is a heritable autosomal recessive human disorder characterized by the premature onset of numerous age-related diseases including juvenile cataracts, dyslipidemia, diabetes mellitus (DM), osteoporosis, atherosclerosis, and cancer. syndrome segmental progeroid whose presentation resembles accelerated aging. The most common causes death for WS patients...

2016
Serafina Perrone Federica Lotti Ursula Geronzi Elisa Guidoni Mariangela Longini Giuseppe Buonocore

Oxidative stress is a distinctive sign in several genetic disorders characterized by cancer predisposition, such as Ataxia-Telangiectasia, Fanconi Anemia, Down syndrome, progeroid syndromes, Beckwith-Wiedemann syndrome, and Costello syndrome. Recent literature unveiled new molecular mechanisms linking oxidative stress to the pathogenesis of these conditions, with particular regard to mitochondr...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید