94 research outputs found
Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation
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Flame Retarded Plasticized Poly(lactic Acid) Using Phosphorus-Based Additives
No full textIn this study, the synergistic effect of the flame-retardant additives on the properties of poly(lactic acid) (PLA) was investigated and at the same time, it was tried to increase the toughness of PLA by adding small amounts of phosphate-based additives to plasticized PLA as binary and ternary mixtures. Poly(ethylene glycol) (PEG) was used as a plasticizer. As flame retardant additives, ammonium polyphosphate (APP), tri-phenyl phosphate (TPP), and boron phosphate (BP) were used. Characterization of the composites was carried out by tensile test, impact test, differential scanning calorimetry (DSC), thermal gravimetric analyses (TGA), scanning electron microscopy (SEM), limiting oxygen index (LOI), and UL-94 horizontal burning tests. In addition, TGA-FTIR analyses were carried out to understand the thermal degradation mechanism of composites during combustion. According to the SEM micrographs of the burnt surfaces of the samples, a smooth and flat structure is observed in PLA/PEG/5TPP-5BP sample, while a porous structure and branching formations are observed in other composite samples. Among the composite samples, the best flame retardancy features were observed in the composite containing PLA/PEG/5APP-2.5TPP-2.5BP sample, and the highest impact strength and elongation at break values were obtained in the composite containing PLA/PEG/5APP-5TPP sample.Scientific and Technological Research Council of Turkiye (TUBITAK) [213M396]The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Sertan Yesil reports financial support was provided by The Scientific and Technological Research Council of Turkiye (TUBITAK) (Project No: 213M396)
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature
No full textBackground Biallelic mutations in the TBX19 gene cause severe early-onset adrenal failure due to isolated ACTH deficiency (IAD). This rare disease is characterized by low plasma ACTH and cortisol levels, with normal secretion of other pituitary hormones. Herein, we report a patient with IAD due to a novel TBX19 gene mutation, who is also of tall stature. Case report A 4(8/12)-year-old girl was presented with loss of consciousness due to hypoglycemia. The patient was born at term with a birth weight of 3800 g. Her parents were first-degree cousins. She had a history of several hospitalizations for recurrent seizures, abdominal pain, and vomiting. At presentation, her weight and height were + 1.8 and + 2.2 SDS, respectively. Serum glucose was 25 mg/dl (1.4 mmol/L), with normal sodium, potassium, and insulin concentrations. The child was hypocortisolemic (0.1 mu g/dl), and ACTH levels were extremely low (< 5.0 pg/ml). A diagnosis of IAD was made and hydrocortisone treatment was started. Hypoglycemic episodes, seizures, and recurrent gastrointestinal complaints disappeared after hydrocortisone replacement. Magnetic resonance imaging of the pituitary was normal. Whole exome sequencing revealed a novel homozygous c.302G > A (W101*) mutation in the TBX19 gene. Conclusion We report a new mutation in the TBX19 gene in a patient with isolated ACTH deficiency. While overgrowth is a known feature of some types of adrenal insufficiencies, including MC2R gene defects and POMC deficiency, it may be a novel feature for TPIT deficiency, as in our patient
Rare cause of severe hypertension in an adolescent boy presenting with short stature: Questions
No full textNovel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia
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Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers
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