Takeshi Usui
Kyoto Medical Center
GeneThyroid hormone receptorEndocrinologyPathologyGene expressionMolecular biologyReceptorNorthern blotAdenomaCongenital adrenal hyperplasiaAldosteronePrimary aldosteronismAdrenocorticotropic hormoneMutationThyroidGeneticsDiabetes mellitusMedicineBiologyGastroenterology
157Publications
29H-index
5,552Citations
Publications 158
Newest
#1Rieko KosugiH-Index: 2
#2Takeshi UsuiH-Index: 29
Last. Tatsuhide InoueH-Index: 3
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#1Chika KyoH-Index: 2
#2Takeshi UsuiH-Index: 29
Last. Tatsuhide InoueH-Index: 3
view all 10 authors...
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#1Naohisa TamuraH-Index: 38
Last. Tatsuhide InoueH-Index: 3
view all 11 authors...
In Japan, primary aldosteronism (PA) is diagnosed if any one of the captopril challenge test (CCT), saline infusion test (SIT), furosemide-upright test (FUP), and oral salt-loading test (OST) is positive. The present study aimed to investigate if parameters of CCT, the safest confirmatory test, could predict decisions of other tests and propose the next test to diagnose PA in CCT-negative patients. In a cross-sectional design, 142 patients, who were referred to our hospital for the scrutiny of P...
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#1Makoto KitaH-Index: 1
#2Yasuhiro KuwataH-Index: 2
Last. Takeshi UsuiH-Index: 29
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Abstract Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. We report a Japanese family with HDR syndrome and congenital choanal atresia. The 6-year-old female proband was diagnosed with epilepsy at the age of three. Under carbamazepine monotherapy, the patient presented hypoparathyroidism accompanied by severe hypocalcemia. Subsequently, renal ultrasound ...
2 CitationsSource
#1Chika KyoH-Index: 2
#2Takeshi UsuiH-Index: 29
Last. Tatsuhide InoueH-Index: 3
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Context Primary macronodular adrenal hyperplasia (PMAH) is a rare type of Cushing or subclinical Cushing syndrome and is associated with bilateral multinodular formation. ARMC5 is one of the responsible genes for PMAH.
3 CitationsSource
#1Satoko Umino (Kurume University)
#2Miyuki Kitamura (Kurume University)H-Index: 2
Last. Yasutoshi Koga (Kurume University)H-Index: 31
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BACKGROUND: 21-hydroxylase deficiency (21-OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms. In males, genital features such as micropenis and cryptorchidism are found in 48% of CS. There are no reports of patients with combined 21-OHD and CS; therefore, it is unknown whether the external genitalia shows penile enlargement or micropenis with/without crypt...
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#1Mariko KojimaH-Index: 1
#2Tatsuya NaganoH-Index: 12
Last. Yoshihiro NishimuraH-Index: 32
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: Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant condition caused by mutations of the gene encoding the dual zinc-finger transcription factor, GATA3. A previous study identified some patients with GATA3 gene variants and breast cancer, suggesting that GATA3 variants may contribute to tumorigenesis in estrogen receptor 1-positive breast tumors; however, these patients did not have HDR syndrome. A 32-year-old nonsmoking Japanese woman was...
1 CitationsSource
#1Rieko NakataniH-Index: 1
#2Takashi MurataH-Index: 7
Last. Akira ShimatsuH-Index: 39
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: Glycated hemoglobin (HbA1c) is a widely used marker of glycemic control but can be affected by hemolytic anemia. Glycated albumin (GA) is also affected in patients with liver cirrhosis. We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus and liver cirrhosis due to hemochromatosis. The estimated HbA1c calculated from the average glucose level obtained by continuous glucose ...
2 CitationsSource
#1Satoshi YoshijiH-Index: 1
#2Kimitaka ShibueH-Index: 8
Last. Nobuya InagakiH-Index: 63
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RATIONALE: Unilateral adrenalectomy as part of surgical resection of renal cell carcinoma (RCC) is not thought to increase the risk of chronic adrenal insufficiency, as the contralateral adrenal gland is assumed to be capable of compensating for the lost function of the resected gland. However, recent studies have indicated that adrenalectomy might cause irreversible impairment of the adrenocortical reserve. We describe a case of chronic primary adrenal insufficiency in a 68-year-old man who pre...
1 CitationsSource
#1Takaaki MurakamiH-Index: 5
#2Takeshi UsuiH-Index: 29
Last. Shogo OkiH-Index: 15
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: A 53-year-old woman developed end-stage renal failure during a 15-year clinical course of primary hyperparathyroidism and was referred to our hospital for evaluation of suspected multiple endocrine neoplasia type 1 (MEN1). Genetic testing revealed a novel deletion mutation at codon 467 in exon 10 of the MEN1 gene. Systemic and selective arterial calcium injection (SACI) testing revealed hyperglucagonemia and hypergastrinemia with positive gastrin responses. A pathological examination revealed ...
2 CitationsSource
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