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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/29026278/a-japanese-boy-with-fructose-1-6-bisphosphatase-deficiency-who-had-a-novel-fbp1-mutation-p-phe90val
#1
Keiko Nagahara, Daisuke Ariyasu, Junko Igaki, Yuki Hasegawa, Yukihiro Hasegawa
No abstract text is available yet for this article.
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026277/novel-splice-site-mutation-in-gata3-in-a-patient-with-hdr-syndrome
#2
Kumihiro Matsuo, Arisa Kobayashi, Yusuke Tanahashi, Satoko Maruyama, Yoshihiro Niitsu, Hidenori Katsuta, Akiko Furuya, Shigeru Suzuki, Mitsunobu Kawamura, Hiroshi Azuma
No abstract text is available yet for this article.
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026276/five-cases-of-childhood-onset-graves-disease-treated-with-either-surgery-or-radio-iodine-therapy
#3
Kouki Tomari, Masahiro Goto, Aya Shimada, Hiroko Yagi, Yuka Nagashima, Yukihiro Hasegawa
There are three major therapeutic options for the treatment of Graves' disease (GD): antithyroid drugs (ATDs), thyroidectomy, and radio-iodine (RAI) therapy. ATDs are the initial treatment option for children. However, some pediatric GD patients who are initially treated with ATDs require other type of treatments later on. We reviewed the medical records of childhood-onset GD cases retrospectively to report the clinical course of patients who received either surgery or RAI therapy subsequent to treatment with ATDs...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026275/a-case-of-45-x-47-xxx-mosaic-turner-syndrome-with-limb-length-discrepancy
#4
Nozomi Hishimura-Yonemaru, Koji Okuhara, Nobuhiro Takahashi, Hidefumi Tonoki, Susumu Iizuka, Toshihiro Tajima
Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026274/a-case-of-an-infant-with-congenital-combined-pituitary-hormone-deficiency-and-normalized-liver-histology-of-infantile-cholestasis-after-hormone-replacement-therapy
#5
Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani
Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026273/detection-of-early-stage-medullary-thyroid-carcinoma-by-measuring-serum-calcitonin-using-an-electro-chemiluminescence-immuno-assay-a-case-report-of-a-young-japanese-woman-with-a-high-risk-ret-mutation
#6
Yuki Abe, Shinya Tsukano
Medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder caused by the mutation of the RET proto-oncogene, that shows nearly complete penetration. The American Thyroid Association guidelines recommend prophylactic thyroidectomy for patients with high-risk RET mutations. However, in Japan, ethical and medical issues may preclude prophylactic treatment in young patients. Hence, an early diagnosis of MTC is necessary to ensure a favorable outcome. Here, we report the case of a young Japanese girl with a high-risk RET mutation, diagnosed with very early stage MTC using serum calcitonin (Ctn) values measured using an electro chemiluminescence immuno-assay (ECLIA)...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026272/incidence-of-diabetes-mellitus-and-neoplasia-in-japanese-short-statured-children-treated-with-growth-hormone-in-the-genetics-and-neuroendocrinology-of-short-stature-international-study-genesis
#7
Susumu Yokoya, Tomonobu Hasegawa, Keiichi Ozono, Hiroyuki Tanaka, Susumu Kanzaki, Toshiaki Tanaka, Kazuo Chihara, Nan Jia, Christopher J Child, Katsuichiro Ihara, Jumpei Funai, Noriyuki Iwamoto, Yoshiki Seino
The primary goal of the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) was to assess the safety and effectiveness of Humatrope(®), a GH preparation, in the treatment of pediatric patients with short stature. We report our findings in the GH-treated Japanese pediatric population focusing on the incidence of type 2 diabetes (T2D) and occurrence of neoplasms. A total of 2,345 Japanese patients were assessed for safety. During a mean observation period of 3.2 yr, T2D occurred in 3 patients (0...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026271/acanthosis-nigricans-in-a-japanese-boy-with-hypochondroplasia-due-to-a-k650t-mutation-in-fgfr3
#8
Hiroki Hirai, Junpei Hamada, Kosei Hasegawa, Eiichi Ishii
Acanthosis nigricans (AN) is observed in some cases of skeletal dysplasia. However, AN has occasionally been reported in patients with hypochondroplasia (HCH), and a clinical diagnosis is sometimes difficult when its physical and radiological features are mild. Mutations in the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been identified as the cause of some types of skeletal dysplasia, which is diagnostically useful. Here, we report the case of a 3-yr-old Japanese boy who presented with AN...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026270/longitudinal-study-on-the-effectiveness-of-vitamin-d-supplements-in-exclusively-breast-fed-infants
#9
Shintaro Terashita, Taichi Nakamura, Noboru Igarashi
Vitamin D deficiency is a common health problem in infancy. Breast-fed infants are at a higher risk of rickets than formula-fed infants. We observed fluctuations in vitamin D levels in infancy (phase I, 2009-2010) and considered the benefits of vitamin D supplementation specifically in exclusively breast-fed infants in Japan (phase II, 2015). Infants born at our hospital were enrolled in this study. In phase I, we measured 25-hydroxyvitamin D [25(OH)D] levels at 1- to 6-mo intervals from birth. In phase II, we measured 25(OH)D levels before and after supplementation...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026269/clinical-characteristics-of-septo-optic-dysplasia-accompanied-by-congenital-central-hypothyroidism-in-japan
#10
Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima
Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. The purpose of this study is to review clinical features regarding SOD patients with hypopituitarism in Japan. In this study, 21 patients with SOD were identified by a questionnaire survey for congenital central hypothyroidism...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026268/characteristic-clinical-features-of-adipsic-hypernatremia-patients-with-subfornical-organ-targeting-antibody
#11
Akari Nakamura-Utsunomiya, Takeshi Y Hiyama, Satoshi Okada, Masaharu Noda, Masao Kobayashi
Adipsic hypernatremia is a rare disease presenting as persistent hypernatremia with disturbance of thirst regulation and hypothalamic dysfunction. As a result of congenital disease, tumors, or inflammation, most cases are accompanied by structural abnormalities in the hypothalamic-pituitary area. While cases with no hypothalamic-pituitary structural lesion have been reported, their etiology has not been elucidated. Recently, we reported three patients with adipsic hypernatremia whose serum-derived immunoglobulin (Ig) specifically reacted with mouse subfornical organ (SFO) tissue...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804212/premature-pubarche-in-an-infant-nonclassical-congenital-adrenal-hyperplasia-or-mini-puberty-variant
#12
Francisca Grob, Carola Goecke
No abstract text is available yet for this article.
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804211/apparent-cyclic-vaginal-bleeding-in-a-child-factitious-disorder
#13
Ahmet Ucakturk, Figen Gunindi, Murat Aydin
A 20-mo-old girl was brought to our department by her mother because of breast enlargement. She was diagnosed with premature thelarche. One month later, she returned to our hospital with a complaint of vaginal bleeding. During the subsequent 6 mo, her vaginal bleeding recurred every month while her breast development disappeared. We performed laboratory tests and imaging. At the end of 6 mo, we realized that her mother's menstrual bleeding and the patient's blood staining were concurrent. The mother confessed applying her vaginal flow to her daughter's underwear...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804210/efficacy-and-safety-of-alogliptin-in-a-pediatric-patient-with-maturity-onset-diabetes-of-the-young-type-1
#14
Ryosuke Tonouchi, Yusuke Mine, Masako Aoki, Misako Okuno, Junichi Suzuki, Tatsuhiko Urakami
The first-line pharmacological treatment for patients with maturity-onset diabetes of the young type 1 (MODY1) and maturity-onset diabetes of the young type 3 (MODY3) are sulfonylureas (SUs) or insulin. However, several reports have suggested the possibility of using incretin-associated drugs, including dipeptidyl-peptidase-4 (DPP-4) inhibitors, for the treatment of patients with these types of MODY. Here we report a case of a pediatric patient with MODY1 who was successfully treated with a DPP-4 inhibitor, alogliptin...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804209/endocrinological-and-phenotype-evaluation-in-a-patient-with-acrodysostosis
#15
Kaoru Ueyama, Noriyuki Namba, Taichi Kitaoka, Keiko Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono
Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. Mutations in PRKAR1A or PDE4D are known to be responsible for this disease. Cases of hormonal resistance have been reported, particularly in patients with PRKAR1A mutations. The physical characteristics and endocrine function of pseudohypoparathyroidism type Ia is known to resemble acrodysostosis. We report the case of a 4-yr-old patient with a PRKAR1A mutation. He had characteristic facies with an upturned nose and cone-shaped epiphyses of most phalanges...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804208/benign-course-after-acute-high-dose-levothyroxine-intoxication-in-a-3-year-old-boy
#16
Stan Hartman, Kees Noordam, Machiel Maseland, Petra van Setten
Acute ingestion of thyroid hormone preparations is a common intoxication, with 181 cases in children <12 yr in 2009 in the Netherlands, but generally has a mild course. However, some reports show that even low dosages may cause serious events such as seizures, thyroid storm and coma. We report a 3 yr old boy case with an acute intoxication with high dose levothyroxine (0.5 mg/kg). We describe the proper management of levothyroxine intoxication in children. A 3-year-old boy with no notable medical history ingested sixty tablets of levothyroxine 150 µg...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804207/sulfonylurea-treatment-in-an-infant-with-transient-neonatal-diabetes-mellitus-caused-by-an-adenosine-triphosphate-binding-cassette-subfamily-c-member-8-gene-mutation
#17
Masayo Yamazaki, Hideo Sugie, Makiko Oguma, Tohru Yorifuji, Toshihiro Tajima, Takanori Yamagata
Neonatal diabetes mellitus (NDM) is an insulin-requiring monogenic form of diabetes that generally presents before six months of age. The following two types of NDM are known: transient NDM (TNDM) and permanent NDM (PNDM). Here we report on an infant with TNDM caused by a mutation (p.Gly832Cys) of the gene for the ATP binding cassette subfamily C member 8 (ABCC8). The patient exhibited hyperglycemia (600 mg/dL) at five weeks of age and insulin treatment was initiated. As genetic analysis identified a missense mutation within ABCC8, the insulin was replaced by glibenclamide at five months of age...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804206/validation-of-auxological-reference-values-for-japanese-children-with-noonan-syndrome-and-comparison-with-growth-in-children-with-turner-syndrome
#18
Tsuyoshi Isojima, Satoru Sakazume, Tomonobu Hasegawa, Tsutomu Ogata, Toshio Nakanishi, Toshiro Nagai, Susumu Yokoya
We recently published growth references for Japanese individuals with Noonan syndrome (NS). However, it is uncertain whether these references can be used to evaluate the longitudinal growth of children with NS. In addition, these charts did not include detailed values suitable for clinical practice, and they did not include weight-for-height (WFH) charts. In the present study, we validated the references and established new WFH charts for children with NS. In addition, we investigated the growth patterns of these children by comparing them with those of children with Turner syndrome (TS), as well as with those of the normal population...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804205/clinical-practice-guidelines-for-congenital-hyperinsulinism
#19
Tohru Yorifuji, Reiko Horikawa, Tomonobu Hasegawa, Masanori Adachi, Shun Soneda, Masanori Minagawa, Shinobu Ida, Takeo Yonekura, Yoshiaki Kinoshita, Yutaka Kanamori, Hiroaki Kitagawa, Masato Shinkai, Hideyuki Sasaki, Masaki Nio
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including general features of congenital hyperinsulinism, diagnostic criteria and tools for diagnosis, first- and second-line medical treatment, criteria for and details of surgical treatment, and future perspectives...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28804204/acan-mutations-as-a-cause-of-familial-short-stature
#20
Sumito Dateki
Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. This review provides an overview of the current understanding of ACAN and the clinical and genetic findings concerning aggrecan-associated diseases...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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