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Transection of the pituitary stalk: development of an ectopic posterior lobe assessed with MR imaging.
TLDR
MR imaging can reveal the transection of the pituitary stalk and formation of the ectopic lobe, which secretes antidiuretic hormone just as the posterior lobe would.
Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics
TLDR
A novel variant GDH is identified in a patient with a more severe form of Hyperinsulinism-hyperammonemia syndrome and the mutation is located outside the GTP-binding site and the patient’s GDH shows consistently higher activity, even in the absence of allosteric effectors, which further support the hypothesis that the activating mutation ofGDH is the cause of HHS.
Formation of Advanced Glycosylation End Products and Oxidative Stress in Young Patients with Type 1 Diabetes
TLDR
Accumulation of AGEs, whose formation is closely linked to oxidative stress, and resultant endothelial dysfunction may start early in the course of type 1 diabetes, indicates that the risk of vascular complications may be present at an early age and that the best possible glycemic control should be emphasized from the diagnosis of diabetes.
PCR-based detection of mosaicism in Turner syndrome patients
TLDR
A novel modified HUMARA (human androgen receptor) assay was employed, which proved to be a sensitive method with a detection limit as low as 1 in 960 cells and detected low frequency cryptic X chromosome mosaicism in 2 of 18 cytogenetically 45,X patients.
Craniotabes in normal newborns: the earliest sign of subclinical vitamin D deficiency.
TLDR
It is suggested that craniotabes in normal neonates is associated with vitamin D deficiency in utero, and the deficiency persists at 1 month in many of them, especially when breast-fed.
Substrate-specificities of acid and alkaline ceramidases in fibroblasts from patients with Farber disease and controls.
TLDR
N-Lauroylsphingosine, towards which acid ceramidase activity in control fibroblasts was about 10 times higher than that towards N-oleoylsphingoine, may serve as a better substrate for enzymic diagnosis of Farber disease as well as for further characterization of the catalytically defective acid cer amidase.
Hypothalamic-pituitary function in growth hormone-deficient patients with pituitary stalk transection.
TLDR
The endocrinological data suggest that reestablishment of the hypothalamo-hypophyseal portal circulation, which cannot be seen by MR imaging, may occur and is suggested to be the primary cause of idiopathic pituitary dwarfism in many patients.
The syndrome of Möbius sequence, peripheral neuropathy, and hypogonadotropic hypogonadism.
TLDR
Pulsatile gonadotropin-releasing hormone administration for 3 months showed the effectiveness of this treatment for this patient with Möbius sequence, peripheral neuropathy, and hypog onadotropic hypogonadism.
Pituitary Hyperplasia Due to Hypothyroidism
Two cases of hypothyroidism with computed tomographic evidence of enlargement of the pituitary gland are reported: in both the enlargement disappeared after treatment. These findings are in agreement
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