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https://read.qxmd.com/read/32279225/clinical-features-and-partial-proportional-molecular-genetics-in-neonatal-diabetes-mellitus-a-retrospective-analysis-in-southwestern-china
#1
Luying Cao, Yi He, Qinrong Huang, Yu Zhang, Pinglan Deng, Weixia Du, Ziyu Hua, Min Zhu, Hong Wei
PURPOSE: To explore the relationship of phenotype and genotype of neonatal diabetes mellitus (NDM) in southwestern China. METHODS: Sixteen cases of NDM admitted to Children's Hospital of Chongqing Medical University from May 2009 to May 2019 were included in this study. The clinical features of the included infants were retrospectively analyzed. Peripheral blood samples of the patients and their parents were collected for mutation detection. RESULTS: Among the 16 cases of NDM, 8 cases were permanent neonatal diabetes mellitus (PNDM) (including 3 clinical syndromes), and 3 cases were transient neonatal diabetes mellitus (TNDM)...
April 11, 2020: Endocrine
https://read.qxmd.com/read/30890782/precision-medicine-for-a-man-presented-with-diabetes-at-2-month-old
#2
Su Fen Ang, Clara Si Hua Tan, Jessie Choi Wan Fong, Su Chi Lim
A 22-year-old man was referred for continuation of diabetes mellitus treatment. He was first diagnosed with diabetes mellitus 2 months after birth, when he failed to thrive and showed symptoms of diabetic ketoacidosis. There was no family history of diabetes mellitus. The patient did not exhibit the full set of features to be qualified for any developmental delay, epilepsy and neonatal diabetes mellitus (DEND) syndrome. Insulin replacement therapy was initiated; however, management was challenged by wide glycemic excursion, hypoglycemic unawareness and insulin-associated cutaneous lipo-hypertrophy...
March 19, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30016278/to-diet-or-not-to-diet-in-neonatal-diabetes-responding-to-sulfonylurea-treatment
#3
Sorin Ioacara, Elisabeta Sava, Alexandra Barosan, Florentina Cojocaru, Adelina Gutan, Simona Fica
Background Neonatal diabetes mellitus (NDM) is defined as a monogenic form of diabetes that occurs in the first 6 months of life. As information on diet in NDM patients successfully treated with sulfonylurea is not yet available, we aimed to investigate the hypothesis that a carb-restricted diet is not needed in such cases. Case presentation In this case report, we present a successful implementation of a completely liberalized diet in a young patient with NDM, developmental delay and epilepsy (DEND syndrome), who was also switched to sulfonylurea treatment...
July 17, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/29058186/methods-for-characterizing-disease-associated-atp-sensitive-potassium-channel-mutations
#4
Balamurugan Kandasamy, Show-Ling Shyng
The ATP-sensitive potassium (KATP ) channel formed by the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1 (SUR1) plays a key role in regulating insulin secretion. Genetic mutations in KCNJ11 or ABCC8 which encode Kir6.2 and SUR1 respectively are major causes of insulin secretion disorders: those causing loss of channel function lead to congenital hyperinsulinism, whereas those causing gain of channel function result in neonatal diabetes and in some cases developmental delay, epilepsy, and neonatal diabetes, referred to as the DEND syndrome...
2018: Methods in Molecular Biology
https://read.qxmd.com/read/28943513/neonatal-diabetes-two-cases-with-isolated-pancreas-agenesis-due-to-homozygous-ptf1a-enhancer-mutations-and-one-with-developmental-delay-epilepsy-and-neonatal-diabetes-syndrome-due-to-kcnj11-mutation
#5
Olcay Evliyaoğlu, Oya Ercan, Emel Ataoğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a KCNJ11 mutation. The two cases with mutations in the distal enhancer of PTF1A had a homozygous g.23508363A>G and a homozygous g...
June 1, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://read.qxmd.com/read/28666500/permanent-neonatal-diabetes-dend-syndrome
#6
Sabeen Abid Khan, Arit Parkash, Mohsina Ibrahim
DEND syndrome is a very rare syndrome of permanent neonatal diabetes mellitus, with an incidence of < 1/1000,000. It is defined as a triad of developmental delay, epilepsy, and neonatal diabetes. We report the case of a 9-month infant girl who presented with the most severe form of neonatal diabetes mellitus spectrum along with developmental delay and epilepsy. Genetic mutation testing confirmed mutations in KCNJ11 gene encoding the Kir6.2 subunit of the K-ATPchannel, which are involved in insulin secretion...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://read.qxmd.com/read/28480665/dend-syndrome-with-heterozygous-kcnj11-mutation-successfully-treated-with-sulfonylurea
#7
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia...
June 2017: Journal of Korean Medical Science
https://read.qxmd.com/read/28477417/neuropsychological-impairments-in-children-with-kcnj11-neonatal-diabetes
#8
LETTER
P Bowman, A T Hattersley, B A Knight, E Broadbridge, L Pettit, M Reville, S E Flanagan, M H Shepherd, T J Ford, J Tonks
No abstract text is available yet for this article.
August 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://read.qxmd.com/read/27849623/successful-transition-to-sulfonylurea-therapy-in-two-iraqi-siblings-with-neonatal-diabetes-mellitus-and-idend-syndrome-due-to-abcc8-mutation
#9
Elif Ozsu, Dinesh Giri, Gulcan Seymen Karabulut, Senthil Senniappan
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 (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/27681997/molecular-and-clinical-features-of-k-atp-channel-neonatal-diabetes-mellitus-in-japan
#10
Yukiko Hashimoto, Sumito Dateki, Masakazu Hirose, Kenichi Satomura, Hirotake Sawada, Haruo Mizuno, Shigetaka Sugihara, Koichi Maruyama, Tatsuhiko Urakami, Hidenori Sugawara, Kenji Shirai, Tohru Yorifuji
BACKGROUND: There are few reports pertaining to Asian patients with neonatal diabetes mellitus (NDM) caused by activating mutations in the ATP-sensitive potassium channel genes (KATP-NDM). OBJECTIVES: To elucidate the characteristics of Japanese patients with KATP-NDM. METHODS: By the amplification and direct sequencing of all exons and exon-intron boundaries of the KCNJ11 and ABCC8 genes, 25 patients with KATP-NDM were identified from a total of 70 patients with NDM...
November 2017: Pediatric Diabetes
https://read.qxmd.com/read/25739471/water-intake-disorder-in-a-dend-syndrome-afflicted-patient-with-r50p-mutation
#11
Yuko Maejima, Shinji Hasegawa, Shoichiro Horita, Kensuke Kumamoto, Juris Galvanovskis, Seiichi Takenoshita, Kenju Shimomura
In this study, we present a case of developmental delay, epilepsy and neonatal diabetes (DEND) syndrome in a young male patient with the R50P mutation located in the Kir6.2 subunit of the ATP-sensitive K(+) (KATP) channel. Whereas most patients with DEND syndrome are resistant to sulfonylurea therapy, our patient was responsive to sulfonylurea, lacked the most common neurological symptoms, such as epilepsy, but refused to drink water. His serum electrolytes and plasma osmolarity were normal but the serum vasopressin level was increased...
2015: Endocrine Journal
https://read.qxmd.com/read/25678012/successful-transition-to-sulfonylurea-in-neonatal-diabetes-developmental-delay-and-seizures-dend-syndrome-due-to-r50p-kcnj11-mutation
#12
Susan Peña-Almazan
Mutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome.
April 2015: Diabetes Research and Clinical Practice
https://read.qxmd.com/read/24912436/neonatal-diabetes-with-intractable-epilepsy-dend-syndrome
#13
Poonam Singh, Sudha Chandrashekhar Rao, Ruchi Parikh
Permanent Neonatal Diabetes Mellitus (PNDM), is a rare monogenic disorder, caused by activating mutations of the KATP channel. The most severe clinical form of PNDM presents as Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Diagnosis is confirmed by genetic mutation testing. Oral sulfonylurea therapy improves neurological outcome.
December 2014: Indian Journal of Pediatrics
https://read.qxmd.com/read/24150202/permanent-neonatal-diabetes-mellitus-caused-by-a-novel-mutation-in-the-kcnj11-gene
#14
Hakan Doneray, Jayne Houghton, Kadir Serafettin Tekgunduz, Ferat Balkir, Ibrahim Caner
Mutations in the KCNJ11 gene are responsible for the majority of permanent neonatal diabetes mellitus (PNDM) cases. Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p.Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome. This case suggests that not all Q52 mutations in the KCNJ11 gene are necessarily related to DEND syndrome...
March 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/23783767/neonatal-diabetes-mellitus-due-to-a-novel-abcc8-gene-mutation-mimicking-an-organic-acidemia
#15
Akanksha N Thakkar, Mamta N Muranjan, Sunil Karande, Nalini S Shah
Neonatal diabetes mellitus and organic acidemias, may present with similar features like hyperglycemia, ketoacidosis and failure to thrive. A four-mo-old girl presented with diabetic ketoacidosis following a febrile respiratory illness during which high anion gap metabolic acidosis and hyperglycemia were detected. She also had hyperammonemia, which led to diagnostic uncertainty. Euglycemia was achieved with insulin injections. Genotyping revealed a homozygous novel mutation of the ABCC8 gene coding for the SUR1 subunit of the pancreatic beta cell potassium channel...
July 2014: Indian Journal of Pediatrics
https://read.qxmd.com/read/23462667/switching-to-sulphonylureas-in-children-with-idend-syndrome-caused-by-kcnj11-mutations-results-in-improved-cerebellar-perfusion
#16
Wojciech Fendler, Iwona Pietrzak, Melissa F Brereton, Carolina Lahmann, Mariusz Gadzicki, Malgorzata Bienkiewicz, Izabela Drozdz, Maciej Borowiec, Maciej T Malecki, Frances M Ashcroft, Wojciech M Mlynarski
OBJECTIVE: Activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the KATP channel, result in permanent neonatal diabetes mellitus. They also may cause neurologic symptoms such as mental retardation and motor problems (iDEND syndrome) and epilepsy (DEND syndrome). Sulphonylurea (SU) treatment is reported to alleviate both the neurologic symptoms and diabetes in such cases. The study aimed to establish the magnitude and functional basis of the effect of SUs on the neurologic phenotype in children with iDEND using neuroimaging before and after insulin replacement with glibenclamide...
August 2013: Diabetes Care
https://read.qxmd.com/read/23382304/dend-syndrome-due-to-v59a-mutation-in-kcnj11-gene-unresponsive-to-sulfonylureas
#17
Sachie Itoh, Hisafumi Matsuoka, Yuki Yasuda, Nobuka Miyake, Keiko Suzuki, Tohru Yorifuji, Shigetaka Sugihara
Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (NDM), and successful glycemic control has been obtained in several cases with oral sulfonylureas (SU). We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. Thus, our case reinforces that most cases with DEND syndrome are insensitive to SU...
2013: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/22768671/permanent-neonatal-diabetes-mellitus-due-to-kcnj11-mutation-in-a-portuguese-family-transition-from-insulin-to-oral-sulfonylureas
#18
Juliette Dupont, Carla Pereira, Ana Medeira, Rui Duarte, Sian Ellard, Lurdes Sampaio
Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes diagnosed within the first 6 months of life. Heterozygous activation mutations in KCNJ11, encoding the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP)) channel, which acts as a key role in insulin secretion regulation, account for about half of the cases of PNDM. The majority of the patients represent isolated cases resulting from de novo mutations. Approximately 20% have associated neurologic features: the most severe form, which includes epilepsy and developmental delay, is called developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome and the milder form, with less severe developmental delay and without epilepsy, is designated intermediate DEND syndrome...
2012: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/22694282/glyburide-ameliorates-motor-coordination-and-glucose-homeostasis-in-a-child-with-diabetes-associated-with-the-kcnj11-s225t-del226-232-mutation
#19
Domenica Battaglia, Yu-Wen Lin, Claudia Brogna, Antonino Crinò, Valeria Grasso, Alessia F Mozzi, Lucia Russo, Sabrina Spera, Carlo Colombo, Stefano Ricci, Colin G Nichols, Eugenio Mercuri, Fabrizio Barbetti
Gain-of-function mutations of KCNJ11 can cause permanent neonatal diabetes mellitus, but only rarely after 6 months of age. Specific uncommon mutations KCNJ11give rise to a syndrome defined as developmental delay, epilepsy, and neonatal diabetes (DEND), or - more frequently - to a milder sub-type lacking epilepsy, denoted as intermediate-DEND (iDEND). Our aim was to consider a possible monogenic etiology in a 12-yr-old boy with early onset diabetes and mild neurological features. We studied a subject diagnosed with diabetes at 21 months of age, and negative to type 1 diabetes autoantibodies testing...
December 2012: Pediatric Diabetes
https://read.qxmd.com/read/22326206/a-novel-abcc8-mutation-illustrates-the-variability-of-the-diabetes-phenotypes-associated-with-a-single-mutation
#20
P Klee, C Bellanné-Chantelot, G Depret, J P Llano, C Paget, M Nicolino
AIM: ATP-sensitive potassium channels are important regulators of insulin secretion. They consist of four sulphonylurea receptor (encoded by ABCC8) and four inwardly rectifying protein (encoded by KCNJ11) subunits. Activating ABCC8 mutations lead to decreased insulin secretion and to diabetes. Wide phenotype variability is associated with single ABCC8 mutations, ranging from transient or permanent neonatal diabetes (ND) with or without developmental delay (DEND syndrome) to very mild phenotypes...
April 2012: Diabetes & Metabolism
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