scholarly journals Chromosome 6q24-related diabetes mellitus

2018 ◽  
Vol 27 (2) ◽  
pp. 59-65 ◽  
Author(s):  
Tohru Yorifuji ◽  
Shinji Higuchi ◽  
Yuki Hosokawa ◽  
Rie Kawakita
Keyword(s):  
Diabetes Mellitus ◽  
Chromosome 6Q24

scholarly journals A Case of Transient Neonatal Diabetes Mellitus Attributable to a Nonspecific Mutation in the ABCC8 Gene

2021 ◽  
Vol 27 (2) ◽  
pp. 121-124
Author(s):  
Won Seob Shin ◽  
Hwal Rim Jeong ◽  
Ji Won Koh
Keyword(s):  
Diabetes Mellitus ◽  
Early Adulthood ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Clinical Form ◽  
Abcc8 Gene ◽  
Type 2 Dm ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that persists for more than 2 weeks and requires insulin therapy. NDM principally occurs before 6 months of age. Transient NDM (TNDM) is a clinical form of NDM that persists for a median of 12 weeks and resolves completely by 18 months. However, it may relapse as type 2 DM during early adulthood. The major causes of TNDM are mutations in chromosome 6q24 or the KCNJ11 or ABCC8 genes; the latter encode the two subunits of the pancreatic adenosine triphosphate (ATP)-sensitive potassium channel (KATP-channel). This condition responds well to oral sulfonylurea therapy. Herein, we report a neonate who was small for gestational age and exhibited TNDM symptoms. Genetic analysis revealed a nonspecific mutation in ABCC8; he was successfully treated with oral sulfonylurea.

scholarly journals Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Anna Delamerced ◽  
Lauren J. Massingham ◽  
Jose Bernardo Quintos
Keyword(s):  
Diabetes Mellitus ◽  
Cell Function ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
First Year ◽  
Dental Disease ◽  
Transient Neonatal Diabetes Mellitus ◽  
Chromosome 6Q24 ◽  
Β Cell Function ◽  
Transient Neonatal Diabetes

Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes that presents in infancy and is characterized by intrauterine growth restriction and hyperglycemia without ketones on urinalysis. Patients are treated with insulin until remission, usually within the first year. Relapse to a permanent state may occur later in life, with a mean age of 14 years. The most common cause of TNDM is a chromosome 6q24 mutation that affects pancreatic β-cell function. Reports of relapse have been limited. We describe a case of an adolescent female with TNDM due to 6q24 hypomethylation who relapsed at 15 years of age with severe dental disease as the presenting sign.

Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes

2015 ◽  
Vol 32 (7) ◽  
pp. 963-967 ◽  
Author(s):  
T. Yorifuji ◽  
K. Matsubara ◽  
A. Sakakibara ◽  
Y. Hashimoto ◽  
R. Kawakita ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Early Onset ◽  
Autoimmune Diabetes ◽  
Neonatal Diabetes ◽  
Chromosome 6Q24 ◽  
History Of ◽  
Autoimmune Diabetes Mellitus

Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation

2016 ◽  
Vol 29 (12) ◽  
Author(s):  
Elif Ozsu ◽  
Dinesh Giri ◽  
Gulcan Seymen Karabulut ◽  
Senthil Senniappan
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
The Other ◽  
Rare Form ◽  
Successful Transition ◽  
Activating Mutations ◽  
Chromosome 6Q24

Abstract Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6–9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (K

Peer Relationship Problems in Children with Tourette's Disorder or Diabetes Mellitus

1998 ◽  
Vol 39 (5) ◽  
pp. 663-668 ◽  
Author(s):  
Harry N. Bawden ◽  
Aidan Stokes ◽  
Carol S. Camfield ◽  
Peter R. Camfield ◽  
Sonia Salisbury
Keyword(s):  
Diabetes Mellitus ◽  
Peer Relationship ◽  
Tourette’S Disorder ◽  
Relationship Problems ◽  
Tourette's Disorder

Intramuscular Nerve and Neuromuscular Junction Alteration In Extraocular Muscles of Diabetic Mice

1985 ◽  
Vol 43 ◽  
pp. 682-683
Author(s):  
Bruce R. Pachter
Keyword(s):  
Diabetes Mellitus ◽  
Peripheral Nerves ◽  
Sudden Onset ◽  
Extraocular Muscles ◽  
Diabetic Patients ◽  
Oculomotor Palsy ◽  
Third Nerve Palsy ◽  
Patients With Diabetes ◽  
Intramuscular Nerve ◽  
Oculomotor Nerves

Diabetes mellitus is one of the commonest causes of neuropathy. Diabetic neuropathy is a heterogeneous group of neuropathic disorders to which patients with diabetes mellitus are susceptible; more than one kind of neuropathy can frequently occur in the same individual. Abnormalities are also known to occur in nearly every anatomic subdivision of the eye in diabetic patients. Oculomotor palsy appears to be common in diabetes mellitus for their occurrence in isolation to suggest diabetes. Nerves to the external ocular muscles are most commonly affected, particularly the oculomotor or third cranial nerve. The third nerve palsy of diabetes is characteristic, being of sudden onset, accompanied by orbital and retro-orbital pain, often associated with complete involvement of the external ocular muscles innervated by the nerve. While the human and experimental animal literature is replete with studies on the peripheral nerves in diabetes mellitus, there is but a paucity of reported studies dealing with the oculomotor nerves and their associated extraocular muscles (EOMs).

Kaposis sarcoma and diabetes mellitus

1971 ◽  
Vol 104 (4) ◽  
pp. 442-444 ◽  
Author(s):  
R. Tankel
Keyword(s):  
Diabetes Mellitus
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