Zobrazeno 1 - 10
of 2 824
pro vyhledávání: '"Neonatal diabetes"'
Autor:
Ishara Minuri Kumarasiri, Thabitha Jebaseeli Hoole, Manimel Wadu Akila Nimanthi, Imalka Jayasundara, Reha Balasubramaniam, Navoda Atapattu
Publikováno v:
JCRPE, Vol 16, Iss 4, Pp 507-513 (2024)
Neonatal diabetes mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first six months of life. These disorders are rare and the incidence is approximately 1 in 90,000 live births. The aim was to descr
Externí odkaz:
https://doaj.org/article/8a2c0a788fec491ab4806069c6726bba
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-7 (2024)
Abstract Neonatal diabetes, characterized by hyperglycemia within the first 6 months of life, is a rare disorder primarily caused by monogenic mutations, exhibiting diverse clinical manifestations. KCNJ11 and ABCC8 pathogenic variants account for mos
Externí odkaz:
https://doaj.org/article/12c278c3305d4930a2b1dad1bca27474
Autor:
Mohammad Golshan-Tafti, Seyed Alireza Dastgheib, Reza Bahrami, Maryam Yeganegi, Maryam Aghasipour, Zahra Marzbanrad, Maryam Saeida-Ardekani, Amirhossein Shahbazi, Amirhossein Omidi, Mohamad Hosein Lookzadeh, Seyed Reza Mirjalili, Mahmood Noorishadkam, Hossein Neamatzadeh
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-11 (2024)
Abstract Neonatal diabetes mellitus (NDM) is a rare, insulin-dependent diabetes that manifests within the first month of life and requires insulin therapy for management. NDM is categorized into two primary types: transient NDM (TNDM), which typicall
Externí odkaz:
https://doaj.org/article/a714b84c45ef402e8a70cc20c5b4e404
Autor:
Hamidreza Mianesaz, Safoura Ghalamkari, Farzaneh Abbasi, Maryam Razzaghy‐Azar, Fatemeh Sayarifard, Rahim Vakili, Maryam Sedghi, Samaneh Noroozi Asl, Sousan Hosseini, Mahsa M Amoli, Hanieh Yaghootkar
Publikováno v:
Journal of Diabetes Investigation, Vol 15, Iss 10, Pp 1390-1402 (2024)
ABSTRACT Introduction Neonatal diabetes mellitus (NDM) is a rare non‐immunological monogenic disorder characterized by hyperglycemic conditions primarily occurring within the first 6 months of life. The majority of cases are attributed to pathogeni
Externí odkaz:
https://doaj.org/article/d5d59eee454645a18bc1d5fc7a3c602b
Publikováno v:
BMC Medical Research Methodology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Although randomized trials and systematic reviews provide the best evidence to guide medical practice, many permanent neonatal diabetes mellitus (PNDM) studies have been published as case reports. However, the quality of these stu
Externí odkaz:
https://doaj.org/article/1e0855f841bd41bba6b0cbad99732f5a
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/6887ae39cc564a60bc0cbd410e67e22a
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by multi-systemic autoimmunity secondary to loss-of-function mutations in the gene coding the forkhead box P3 (FOXP3) transcription
Externí odkaz:
https://doaj.org/article/1ff093c1aac0485c8625e3efeea01b60
Publikováno v:
Journal of Acute Disease, Vol 13, Iss 1, Pp 31-35 (2024)
Objective: To investigate the clinical profile and risk factors of symptomatic and asymptomatic hypoglycemia in neonates admitted to a neonatal intensive care unit in a tertiary care center. Methods: The prospective observational study was conducted
Externí odkaz:
https://doaj.org/article/48daf7e941524e0988cd7d3a9a99fdda
Autor:
Federico Pezzotta, Nicola Sarale, Giordano Spacco, Giacomo Tantari, Enrica Bertelli, Giulia Bracciolini, Andrea Secco, Giuseppe d’Annunzio, Mohamad Maghnie, Nicola Minuto, Marta Bassi
Publikováno v:
Children, Vol 11, Iss 10, p 1225 (2024)
The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gen
Externí odkaz:
https://doaj.org/article/56d2fe1eec534d868817cce6874e15e2
Publikováno v:
AACE Clinical Case Reports, Vol 10, Iss 1, Pp 7-9 (2024)
Background/Objective: Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient. There are limited cases of neonates with DKA who have heterozygous mutations in
Externí odkaz:
https://doaj.org/article/5669ec59cbc94605804f20490cac68a6