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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/28203045/a-novel-men1-mutation-in-a-japanese-adolescent-with-multiple-endocrine-neoplasia-type-1
#1
Masatsune Itoh, Yutaka Saikawa
No abstract text is available yet for this article.
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28203044/a-case-of-sitosterolemia-due-to-compound-heterozygous-mutations-in-abcg5-clinical-features-and-treatment-outcomes-obtained-with-colestimide-and-ezetimibe
#2
Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28203043/influence-of-antenatal-synthetic-glucocorticoid-administration-on-pyramidal-cell-morphology-and-microtubule-associated-protein-type-2-map2-in-rat-cerebrocortical-neurons
#3
Rodrigo Pascual, Isabel Cuevas, Odra Santander, Martina Valencia
Previous animal studies have indicated that excessive prenatal circulating glucocorticoid (GC) levels induced by the antenatal administration of synthetic GC (sGC) significantly alter neuronal development in the cerebellar and hippocampal neurons of the offspring. However, it is unknown whether antenatal sGC administration results in long-term neocortical pyramidal cell impairment. In the current study, we examined whether an equivalent therapeutic dose of antenatal betamethasone phosphate (BET) in pregnant rats alters the Golgi-stained basilar dendritic length and histochemical expression of dendritic microtubule-associated protein 2 (MAP2) of neocortical pyramidal cells in infant, adolescent, and young adult offspring...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28203042/relationship-between-dose-of-antithyroid-drugs-and-adverse-events-in-pediatric-patients-with-graves-disease
#4
Kie Yasuda, Yoko Miyoshi, Makiko Tachibana, Noriyuki Namba, Kazunori Miki, Yukiko Nakata, Toru Takano, Keiichi Ozono
Graves' disease (GD) accounts for a large proportion of pediatric hyperthyroidism, and the first-line treatment is antithyroid drug (ATD) therapy. Methimazole (MMI) is effective in most patients but is associated with significant adverse events (AEs). We reviewed the medical records of GD patients (n = 56) with onset age of <15 yr and investigated the relationship between MMI dose and AEs. The study population comprised 11 male and 45 female patients and the median age at diagnosis was 11 yr. All patients were initially treated with ATDs...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/27780984/a-case-of-transient-neonatal-diabetes-due-to-a-novel-mutation-in-abcc8
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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