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Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology

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https://www.readbyqxmd.com/read/27780984/a-case-of-transient-neonatal-diabetes-due-to-a-novel-mutation-in-abcc8
#1
Masaki Takagi, Ryojun Takeda, Hiroko Yagi, Daisuke Ariyasu, Ryuji Fukuzawa, Tomonobu Hasegawa
No abstract text is available yet for this article.
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27780983/a-novel-mutation-in-the-human-mineralocorticoid-receptor-gene-in-a-japanese-family-with-autosomal-dominant-pseudohypoaldosteronism-type-1
#2
Yoshimi Nishizaki, Makoto Hiura, Hidetoshi Sato, Yohei Ogawa, Akihiko Saitoh, Keisuke Nagasaki
No abstract text is available yet for this article.
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27780982/a-patient-with-pseudohypoaldosteronism-type-ii-complicated-by-congenital-hypopituitarism-carrying-a-klhl3-mutation
#3
Marie Mitani, Munehiro Furuichi, Satoshi Narumi, Tomonobu Hasegawa, Motoko Chiga, Shinichi Uchida, Seiji Sato
Pseudohypoaldosteronism type II (PHA II) is a renal tubular disease that causes hyperkalemia, hypertension, and metabolic acidosis. Mutations in four genes (WNK4, WNK1, KLHL3, and CUL3) are known to cause PHA II. We report a patient with PHA II carrying a KLHL3 mutation, who also had congenital hypopituitarism. The patient, a 3-yr-old boy, experienced loss of consciousness at age 10 mo. He exhibited growth failure, hypertension, hyperkalemia, and metabolic acidosis. We diagnosed him as having PHA II because he had low plasma renin activity with normal plasma aldosterone level and a low transtubular potassium gradient...
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27780981/longitudinal-observation-of-serum-anti-m%C3%A3-llerian-hormone-in-three-girls-after-cancer-treatment
#4
Yoko Miyoshi, Kie Yasuda, Makiko Tachibana, Hisao Yoshida, Emiko Miyashita, Takako Miyamura, Yoshiko Hashii, Kae Hashimoto, Tadashi Kimura, Keiichi Ozono
Gonadal dysfunction and infertility are major endocrinological late effects among childhood cancer survivors. Chemotherapy and radiation have gonadotoxic effects and diminish the ovarian reserve. The serum concentration of anti-Müllerian hormone (AMH) is a useful marker of ovarian reserve in survivors. We conducted a longitudinal study to investigate the variations of AMH in evaluating the acute and chronic effects of cancer therapy on the ovary. Three young female patients with different hematological diseases were registered, and their medical records were reviewed...
October 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507914/a-novel-frameshift-mutation-in-the-trps1-gene-caused-tricho-rhino-phalangeal-syndrome-type-i-and-iii-in-a-japanese-family
#5
Masatsune Itoh, Yuko Kittaka, Yo Niida, Yutaka Saikawa
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507913/a-novel-nr3c2-mutation-in-a-japanese-patient-with-the-renal-form-of-pseudohypoaldosteronism-type-1
#6
Toshiki Tsunogai, Ichiro Miyata, Saori Kotake, Ryuki Matsuura, Ken Takagi, Hiroyuki Nanba, Noriko Takahata, Toshihiro Tajima, Yasuyuki Wada
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507912/a-japanese-familial-case-of-schmid-metaphyseal-chondrodysplasia-with-a-novel-mutation-in-col10a1
#7
Shinji Higuchi, Masaki Takagi, Satoshi Shimomura, Gen Nishimura, Yukihiro Hasegawa
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507911/a-japanese-familial-case-of-hypochondroplasia-with-a-novel-mutation-in-fgfr3
#8
Keiko Nagahara, Yuki Harada, Tohru Futami, Masaki Takagi, Gen Nishimura, Yukihiro Hasegawa
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507910/chromosome-6q24-methylation-defects-are-uncommon-in-childhood-onset-non-autoimmune-diabetes-mellitus-patients-born-appropriate-or-large-for-gestational-age
#9
Misako Okuno, Tohru Yorifuji, Masayo Kagami, Tadayuki Ayabe, Tatsuhiko Urakami, Tomoyuki Kawamura, Nobuyuki Kikuchi, Ichiro Yokota, Toru Kikuchi, Shin Amemiya, Junichi Suzuki, Tsutomu Ogata, Shigetaka Sugihara, Maki Fukami
No abstract text is available yet for this article.
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507909/potential-utility-of-cinacalcet-as-a-treatment-for-cdc73-related-primary-hyperparathyroidism-a-case-report
#10
Takeshi Sato, Koji Muroya, Junko Hanakawa, Sumimasa Yamashita, Kumiko Nozawa, Katsuhiko Masudo, Tadashi Yamakawa, Yumi Asakura, Tomonobu Hasegawa, Masanori Adachi
We report a Japanese pedigree with familial primary hyperparathyroidism due to a CDC73 mutation. To our knowledge, this is the first report of cinacalcet as a treatment for CDC73-related primary hyperparathyroidism. The proband had severe psychomotor retardation and received laryngotracheal separation surgery. At 19 yr of age, he developed acute pancreatitis. Hypercalcemia (12.2-13.8 mg/dL), elevated levels of intact PTH (86-160 pg/mL), and a tumor detected upon neck ultrasonography led to the diagnosis of primary hyperparathyroidism...
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27507908/efficacy-of-single-serum-cortisol-reading-obtained-between-9-am-and-10-am-as-an-index-of-adrenal-function-in-children-treated-with-glucocorticoids-or-synthetic-adrenocorticotropic-hormone
#11
Masahiro Goto, Nao Shibata, Yukihiro Hasegawa
To find a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0-19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days...
July 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212800/weight-for-height-charts-for-japanese-children-based-on-the-year-2000-report-of-school-health-statistics-research
#12
Yoshiya Ito, Kenji Fujieda, Akimasa Okuno
No abstract text is available yet for this article.
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212799/growth-standard-charts-for-japanese-children-with-mean-and-standard-deviation-sd-values-based-on-the-year-2000-national-survey
#13
Tsuyoshi Isojima, Noriko Kato, Yoshiya Ito, Susumu Kanzaki, Mitsunori Murata
No abstract text is available yet for this article.
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212798/early-onset-urological-disorders-due-to-wolfram-syndrome-a-case-of-neonatal-onset
#14
Mami Fukuma, Daisuke Ariyasu, Megumi Hatano, Hiroko Yagi, Yukihiro Hasegawa
No abstract text is available yet for this article.
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212797/pheochromocytoma-complicated-by-cyanotic-congenital-heart-disease-a-case-report
#15
Keiko Yamamoto, Noriyuki Namba, Takuo Kubota, Takeshi Usui, Kunihiko Takahashi, Taichi Kitaoka, Makoto Fujiwara, Yumiko Hori, Shigetoyo Kogaki, Takaharu Oue, Eiichi Morii, Keiichi Ozono
Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland...
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212796/gonadal-function-fertility-and-reproductive-medicine-in-childhood-and-adolescent-cancer-patients-a-national-survey-of-japanese-pediatric-endocrinologists
#16
Yoko Miyoshi, Tohru Yorifuji, Reiko Horikawa, Ikuko Takahashi, Keisuke Nagasaki, Hiroyuki Ishiguro, Ikuma Fujiwara, Junko Ito, Mari Oba, Hiroshi Kawamoto, Hiroyuki Fujisaki, Masashi Kato, Chikako Shimizu, Tomoyasu Kato, Kimikazu Matsumoto, Haruhiko Sago, Tetsuya Takimoto, Hiroshi Okada, Nao Suzuki, Susumu Yokoya, Tsutomu Ogata, Keiichi Ozono
An increasing number of pediatric cancer patients survive, and treatment-related infertility represents one of the most important issues for these patients. While official guidelines in Japan recommend long-term follow-up of childhood cancer survivors (CCSs), their gonadal function and fertility have not been clarified. To address this issue, we organized a working panel to compile evidence from long-term survivors who received treatments for cancer during childhood or adolescence. In collaboration with members of the CCS Committee of the Japanese Society for Pediatric Endocrinology (JSPE), we conducted a questionnaire survey regarding reproductive function in pediatric cancer patients...
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212795/classic-and-non-classic-21-hydroxylase-deficiency-can-be-discriminated-from-p450-oxidoreductase-deficiency-in-japanese-infants-by-urinary-steroid-metabolites
#17
Yuhei Koyama, Keiko Homma, Maki Fukami, Masayuki Miwa, Kazushige Ikeda, Tsutomu Ogata, Mitsuru Murata, Tomonobu Hasegawa
We previously reported a two-step biochemical diagnosis to discriminate classic 21-hydroxylase deficiency (C21OHD) from P450 oxidoreductase deficiency (PORD) by using urinary steroid metabolites: the pregnanetriolone/tetrahydrocortisone ratio (Ptl / the cortisol metabolites 5α- and 5β-tetrahydrocortisone (sum of these metabolites termed THEs), and 11β-hydroxyandrosterone (11OHAn). The objective of this study was to investigate whether both C21OHD and non-classic 21OHD (C+NC21OHD) could be biochemically differentiated from PORD...
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27212794/three-novel-mutations-of-the-mct8-slc16a2-gene-individual-and-temporal-variations-of-endocrinological-and-radiological-features
#18
Erina Ono, Masamichi Ariga, Sakiko Oshima, Mika Hayakawa, Masayuki Imai, Yukikatsu Ochiai, Hiroshi Mochizuki, Noriyuki Namba, Keiichi Ozono, Ichiro Miyata
We performed genetic analysis and clinical investigations for three patients with suspected monocarboxylate transporter 8 (MCT8) deficiency. On genetic analysis of the MCT8(SLC16A2) gene, novel mutations (c.1333C>A; p.R445S, c.587G>A; p.G196E and c.1063_1064insCTACC; p.R355PfsX64) were identified in each of three patients. Although thyroid function tests (TFTs) showed the typical pattern of MCT8 deficiency at the time of genetic diagnosis in all patients, two patients occasionally were euthyroid. A TRH test revealed low response, exaggerated response and normal response of TSH, respectively...
April 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/26865751/a-novel-mutation-of-the-thrb-gene-in-a-japanese-family-with-resistance-to-thyroid-hormone
#19
Jumpei Ito, Satoshi Narumi, Kazumichi Nishizawa, Tsutomu Kamimaki, Naoaki Hori, Tomonobu Hasegawa
No abstract text is available yet for this article.
January 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/26865750/current-concepts-in-perinatal-mineral-metabolism
#20
Yasuhisa Ohata, Keiichi Ozono, Toshimi Michigami
The serum levels of calcium (Ca) and phosphate are maintained higher in the fetus than in the pregnant mother, especially in late gestation, to meet the demands of fetal bone development. In order to maintain this fetal stage-specific mineral homeostasis, the placenta plays a critical role through active transcellular mineral transport. Although the molecular mechanism of transplacental Ca transport has been well studied, little is known about the transport mechanism of phosphate and magnesium. Maternal mineral homeostasis is also altered during pregnancy to supply minerals to the fetus...
January 2016: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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