Neonatal diabetes mellitus (NDM) is a very rare disorder and its diagnosis can be challenging especially in mild and transient cases. Herein, we describe a 2.4-kg female infant born at 38 wk of gestation who showed hyperglycemia (388 mg/dL) on Day 1. Intermittent blood sampling showed glucose concentrations of 100-150 mg/dL on Day 2-5. However, continuous glucose monitoring (CGM) from Day 7 revealed hyperglycemia (> 200 mg/dL) after every feeding. The patient required low-dose (0.1-0.2 U/kg/d) insulin therapy for a short period (7 d). During the treatment, hypoglycemic (< 50 mg/dL) events were not detected by real- time CGM. Follow-up CGM from Day 32 showed normoglycemia for 3 full days; therefore, we ascertained that the diabetes had been transient. Later genetic analysis revealed an abnormal methylation pattern on chromosome 6q24, which is the most frequent cause of transient NDM. Most cases of 6q24-related NDM relapse after puberty, implying that long term follow up is required. We speculate that the NDM in this case might not have been diagnosed without CGM. This report highlights the usefulness of CGM for the initial diagnosis, monitoring during insulin therapy, and confirmation of improvement in patients with transient NDM.
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http://dx.doi.org/10.1297/cpe.29.77 | DOI Listing |
Hum Gene Ther
December 2024
Laboratoire des Maladies Neurodégénératives, MIRCen Institute, Fontenay-aux-Roses, France.
Worldwide, thousands of male patients who carry ATP Binding Cassette Subfamily D Member 1 () mutations develop adrenomyeloneuropathy (AMN) in mid-adulthood, a debilitating axonopathy of the spinal cord. Today AAV gene therapy brings the most hope for this orphan disease. We previously reported that an AAV9-MAG- vector injected intravenously in the neonatal period prevented the disease in 2-year-old mice, the AMN mouse model.
View Article and Find Full Text PDFJ Family Med Prim Care
November 2024
Department of Community Medicine, Sri Manakula Vinayagar Medical College and Hospital, Puducherry, India.
Background: Gestational diabetes mellitus in pregnancy is associated with polyhydramnios, macrosomia, and shoulder dystocia, and it also increases maternal and perinatal mortality.
Methods: This sequential explanatory mixed-method study was conducted for six months. All the pregnant women attending the outpatient department of the Obstetrics and Gynaecology Department at 24-28 weeks of gestation were subjected to universal screening with 75 gms of glucose and 2 hours of plasma glucose >140 mgs% is taken for diagnosis (according to DIPSI guidelines).
Am J Perinatol
December 2024
Department of Obstetrics and Gynecology, Jersey City Medical Center, West New York, New Jersey.
The Diabetes in Pregnancy Program Project Grant (PPG) was a 15-year program focused on enhancing the care for women with insulin-dependent diabetes mellitus (IDDM) during pregnancy and improving the well-being of their offspring. Launched in July 1978 at the University of Cincinnati, the PPG pursued a multifaceted research agenda encompassing basic science, animal and placental studies, and maternal and neonatal clinical trials to understand the physiological and pathophysiological aspects of IDDM during pregnancy. A total of 402 singleton pregnancies in 259 women with IDDM were enrolled prior to 10 weeks gestation over the 15-year period.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Department of Paediatric Endocrinology, Kandang Kerbau Women's and Children's Hospital, 229899 Singapore.
Maturity-onset diabetes of the young (MODY) represents 1% to 5% of patients with diabetes mellitus (DM), and numerous genes associated with MODY have been identified. While mutations of the insulin gene () are known to cause permanent neonatal DM, rare disease-causing variants have also been found in MODY. These patients demonstrate variable clinical phenotypes-from milder forms requiring lifestyle or oral agent interventions to severe forms requiring lifelong insulin.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
December 2024
Vali-e-Asr Reproductive Health Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Early identification of gestational diabetes mellitus is essential for improving maternal and neonatal outcomes. While risk factors such as advanced maternal age, elevated pre-pregnancy body mass index, multiparity, and a history of gestational diabetes have been recognized, the role of serum biomarkers remains uncertain. This study explores the predictive value of early-pregnancy laboratory findings in conjunction with maternal demographic and clinical characteristics for gestational diabetes mellitus.
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