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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/28458462/partial-lipodystrophy-in-patients-who-have-undergone-hematopoietic-stem-cell-transplantation-during-childhood-an-institutional-cross-sectional-survey
#1
Masanori Adachi, Yuji Oto, Koji Muroya, Junko Hanakawa, Yumi Asakura, Hiroaki Goto
Partial lipodystrophy (PD), a condition similar to metabolic syndrome without obesity, is one of the late complications of hematopoietic stem cell transplantation (HSCT) performed during childhood. We aimed to investigate the prevalence and risk factors of PD. A cross-sectional survey was performed in a children's hospital, targeting patients treated for a malignancy or hematological disorder, and who were disease-free for > 24 mo. PD was defined as gluteal lipoatrophy and lipohypertrophy of the cheeks or neck associated with diabetes and/or fatty liver disease...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28458461/endocrine-status-of-patients-with-septo-optic-dysplasia-fourteen-japanese-cases
#2
Mikiko Koizumi, Shinobu Ida, Yasuko Shoji, Yuri Etani, Yoshikazu Hatsukawa, Nobuhiko Okamoto
A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28458460/childbirth-and-fertility-preservation-in-childhood-and-adolescent-cancer-patients-a-second-national-survey-of-japanese-pediatric-endocrinologists
#3
Yoko Miyoshi, Tohru Yorifuji, Reiko Horikawa, Ikuko Takahashi, Keisuke Nagasaki, Hiroyuki Ishiguro, Ikuma Fujiwara, Junko Ito, Mari Oba, Hiroyuki Fujisaki, Masashi Kato, Chikako Shimizu, Tomoyasu Kato, Kimikazu Matsumoto, Haruhiko Sago, Tetsuya Takimoto, Hiroshi Okada, Nao Suzuki, Susumu Yokoya, Tsutomu Ogata, Keiichi Ozono
Although existing guidelines recommend long-term follow-up of childhood cancer survivors (CCSs), their fertility has not been fully investigated in Japan. To address this issue, we organized a working panel consisting of medical specialists in foundation hospitals. We conducted questionnaire surveys targeting pediatric endocrinologists regarding reproduction in pediatric and adolescent cancer patients in collaboration with the CCS committee of the Japanese Society for Pediatric Endocrinology (JSPE). The first questionnaire was sent to 178 directors or councilors of the JSPE, and the second was sent to those who had provided answers on their experience with childbirth or fertility preservation...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28458459/hypothyroidism-among-pediatric-patients-with-type-1-diabetes-mellitus-from-patients-characteristics-to-disease-severity
#4
Ali Fatourechi, Hossein Malekafzali Ardakani, Fatemeh Sayarifard, Mahdi Sheikh
We performed this study to evaluate the associations of hypothyroidism with clinical severity and the occurrence of diabetic ketoacidosis (DKA) at initial diagnosis among pediatric patients with type 1 diabetes mellitus (T1DM). 330 children with T1DM who referred to Diabetes Clinic were enrolled. The medical records were e valuated and a blood sample was drawn from patients for measuring thyroid function and antibodies, blood glucose, and glycated hemoglobin (HbA1C) levels. Hypothyroidism was detected in 9...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28458458/evaluation-of-growth-hormone-treatment-efficacy-in-short-japanese-children-born-small-for-gestational-age-five-year-treatment-outcome-and-impact-on-puberty
#5
Reiko Horikawa, Toshiaki Tanaka, Hiromi Nishinaga, Yoshihisa Ogawa, Susumu Yokoya
Some children born small for gestational age (SGA) have short stature and are at an increased risk of developing psychosocial or behavioral problems. Here we evaluated the efficacy of GH and its effects on the timing of pubertal onset in a 3-yr extension of our previous 2-yr (total 5 yr) multicenter, randomized, double-blind, parallel-group clinical trial of 65 short Japanese children born SGA. Patients received low or high doses of GH (0.033 or 0.067 mg/kg/day, respectively). Age at onset of puberty was not statistically different for male and female patients receiving high- or low-dose GH...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28458457/guidelines-for-the-treatment-of-childhood-onset-graves-disease-in-japan-2016
#6
Kanshi Minamitani, Hirokazu Sato, Hidemi Ohye, Shohei Harada, Osamu Arisaka
Purpose behind developing these guidelines: Over one decade ago, the "Guidelines for the Treatment of Graves' Disease with Antithyroid Drug, 2006" (Japan Thyroid Association (JTA)) were published as the standard drug therapy protocol for Graves' disease. The "Guidelines for the Treatment of Childhood-Onset Graves' Disease with Antithyroid Drug in Japan, 2008" were published to provide guidance on the treatment of pediatric patients. Based on new evidence, a revised version of the "Guidelines for the Treatment of Graves' Disease with Antithyroid Drug, 2006" (JTA) was published in 2011, combined with the "Handbook of Radioiodine Therapy for Graves' Disease 2007" (JTA)...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28203045/a-novel-men1-mutation-in-a-japanese-adolescent-with-multiple-endocrine-neoplasia-type-1
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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