Relationship between anthropometric indices and arterial stiffness: Insights from an epidemiologic study

Autor: Sahar Sobhani, Saba Vakili, Dina Javid Jam, Reihaneh Aryan, Majid Khadem‐Rezaiyan, Saeid Eslami, Maryam Alinezhad‐Namaghi

Publikováno v: Obesity Science & Practice, Vol 8, Iss 4, Pp 494-499 (2022)

Abstract Background Obesity and arteriosclerosis are both independently associated with cardiovascular disease risk. Obesity also may increase arterial stiffness. Aims This study aimed to investigate the association between anthropometric indices and

Externí odkaz: https://doaj.org/article/402ab6a6d0a342198a8c53ad74c1d3cc

Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case

Autor: Rahim Vakili, MD, Moein Mobini, MD, Farbod Hatami, MD, Saba Vakili, MD, Niloufar Valizadeh, MD

Publikováno v: Radiology Case Reports, Vol 17, Iss 5, Pp 1512-1520 (2022)

Meire-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by a triad of short stature, microtia, and absent or hypoplastic patella. We report a 5-year-old male affected with the subtype MGS1, secondary to c.c2292t mutation of O

Externí odkaz: https://doaj.org/article/86ea45789d444f17b342da4ed0886cb6

Thyroxin-binding globulin deficiency in a boy with fragile X syndrome: a case report

Autor: Raheleh Mirsadraee, Saba Vakili, Mohammad Reza Abbaszadegan, Rahim Vakili

Publikováno v: Reviews in Clinical Medicine, Vol 3, Iss 4, Pp 171-174 (2016)

Fragile X syndrome (FXS) is the most common known genetic cause of male intellectual disability. A wide variety of medical problems has been reported in FXS syndrome including seizures, facial abnormalities, macroorchidism, and autistic disorders. He

Externí odkaz: https://doaj.org/article/ce7d083b58a2480680746fd0449f41c8

Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B

Autor: Moein Mobini, Shabnam Radbakhsh, Francyne Kubaski, Peyman Eshraghi, Saba Vakili, Rahim Vakili, Manijeh Khalili, Majid Varesvazirian, Tannaz Jamialahmadi, Seyed Alamdaran, Seyed Sayedi, Omid Rajabi, Seyed Emami, Željko Reiner, Amirhossein Sahebkar

Publikováno v: Journal of Clinical Medicine, Vol 11, Iss 247, p 247 (2022)
Journal of Clinical Medicine; Volume 11; Issue 1; Pages: 247
Journal of Clinical Medicine

Background and aims: Niemann-Pick disease (NPD) types A (NPA) and B (NPB) are caused by deficiency of the acid sphingomyelinase enzyme, which is encoded by the SMPD1 gene, resulting in progressive pathogenic accumulation of lipids in tissues. Trehalo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52c7f59d7a993087a4ab151bdb0d634b
https://www.mdpi.com/2077-0383/11/1/247

Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes

Autor: Fahimeh Soheilipour, Mahin Hashemipour, Ghahramani S, De Franco E, Hanieh Yaghootkar, Samaneh Noroozi Asl, Rahim Vakili, Saba Vakili

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 32:607-613

Background Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27cf11ff4df51ea1f5856d0eb7bf6d7f
https://doi.org/10.1515/jpem-2018-0434