Foleyburns5606

Facilities close to patients' homes therefore play an important role in the acute management of T1D onset. In Germany and Austria, diabetes education at diagnosis is mainly performed in inpatient settings. This is reflected by a long duration of hospitalization, which has decreased only slightly over the past decade.Background In this study, we aimed to evaluate the relationship between the 1-h plasma glucose (PG) level in the oral glucose tolerance test (OGTT) and conventional glycemic parameters, indices evaluating beta-cell functions, and cardiometabolic risk factors. Methods The records of 532 obese patients who were followed up in the Pediatric Endocrinology Polyclinic and who underwent standard OGTT were evaluated retrospectively. All patients were divided into two groups according to OGTT data as the 1-h plasma glucose concentration less then 155 mg/dL (n=329) and ≥155 mg/dL (n=203). Patients with normal glucose tolerance (NGT) were divided into two groups according to the 1-h PG level, as 218 patients with NGT 1 h-low ( less then 155 mg/dL) and 53 patients with high NGT 1 h-high (≥155 mg/dL). Results There was a statistically significant difference between the lipid profiles of individuals with NGT 1 h-low ( less then 155 mg/dL) and individuals with NGT 1 h-high (≥155 mg/dL) (p less then 0.001). Total cholesterol, LDL cholesterol, and triglyceride levels were higher, while HDL cholesterol levels were lower in individuals with NGT 1 h-high (≥155 mg/dL). The indices evaluating beta-cell functions were significantly higher in individuals with NGT 1 h-low ( less then 155 mg/dL). Conclusion As a result, a plasma glucose concentration above or equal to 155 mg/dL at 1 h during an OGTT is associated with a worse clinical phenotype characterized by changes in insulin sensitivity and β-cell function. Therefore, this threshold value can predict the progression of prediabetes in obese young people with NGT.Background Fatty acid β-oxidation disorders (FAODs) include more than 15 distinct disorders and have a wide variety of symptoms, usually not evident between episodes of acute decompensation. After the introduction of newborn screening (NBS) using tandem mass spectrometry (MS/MS), early identification of FAODs has become feasible. We analyzed the MS/MS results in Tianjin, China during a six-year period to evaluate the incidence, disease spectrum, and genetic characteristics of FAODs. Methods We analyzed the MS/MS results for screening FAODs from May 2013 to December 2018 in Tianjin, China. Infants with positive screening results were confirmed through next-generation sequencing and validated by Sanger sequencing. Results A total of 220,443 infants were screened and 25 FAODs patients were identified (18,817). Primary carnitine deficiency (PCD) with an incidence rate up to 120,040 was the most common disorder among all FAODs. Recurrent mutations of relatively common diseases, like PCD and short-chain acyl-CoA dehydrogenase deficiency (SCADD), were identified. During the follow-up, two patients suffered from sudden death due to carnitine palmitoyl transferase-Ⅱ deficiency (CPT Ⅱ) and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). Conclusion Our data indicated that FAODs are relatively common in Tianjin and may even cause infant death in certain cases. The elucidated disease spectrum and genetic backgrounds elucidated in this study may contribute to the treatment and prenatal genetic counseling of FAODs.Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III. Method Thirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system. Results Among the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations. U0126 ic50 Conclusion When language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.Objectives Small for gestational age (SGA) status is known to show stunted growth and results in short stature in adults. The aim of this study was to describe the current short stature in subjects born SGA in Korea and to assess catch-up growth (CUG) or non-CUG. Methods We analyzed data from 3,524 subjects (1,831 male) aged 1-18 years who were born as full-term singletons and who participated in the Fifth Korean National Health and Nutrition Examination Survey (2010-2011). Results The prevalence of SGA was 13.4% (n=471). Subjects born SGA had fathers with shorter height, shorter mother's height, and mid-parental height than non-SGA subjects (p less then 0.05 for all). The odds ratios (ORs) for SGA birth of a short statured father and a short statured mother were 2.00 (95% CI; 1.15-3.47) and 2.11 (95% CI; 1.30-3.40), respectively. Among 471 SGA subjects, 28 subjects (5.9%) were non-CUG, which made up 36.4% of all subjects with short stature. The CUG subjects had a higher father's height, mother's height, mid-parental height, and current BMI (p less then 0.05 for all). The non-CUG subjects had a higher percentage of fathers being near-short stature (height less then 10th percentile; 33.3 vs. 12.7%; p=0.008) and mothers being near-short stature (39.3 vs. 13.9%; p less then 0.001). Conclusion Korean subjects born SGA had a higher risk of current short stature. This population-based nationwide survey also showed that both father's and mother's short stature are risk factors of not only SGA birth but also non-CUG in their children.