A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant [0.03%]
一例因母源性单亲二体导致GALNT3变异的高磷血症家族性肿瘤钙化病病例报告
Naoko Nishimura-Kinoshita,Yasuhisa Ohata,Hiromi Sawai et al.
Naoko Nishimura-Kinoshita et al.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) gene variants. Here, we repor...
Lithium as an alternative option in thionamide-resistant Graves' disease [0.03%]
锂作为格雷夫斯病硫脲类药物抵抗的替代治疗选项
Ying Ki Chung,Lap Ming Wong
Ying Ki Chung
Conventional treatments for Graves' disease include thionamides, radioactive iodine therapy (RAI), and thyroidectomy. Occasionally, patients may develop resistance to thionamides and may require additional treatment. We present the case of ...
A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone [0.03%]
一例先天性纤维性 Dysplasia MitosiS(Camurati-engelmann 病)伴视盘水肿,糖皮质激素治疗有效报告
Maho Asai,Akira Gomi,Nobuhiro Ibaraki et al.
Maho Asai et al.
Camurati-Engelmann disease (CED) causes bone pain, muscle weakness, and cranial nerve symptoms due to abnormal thickening of the long bones of the limbs and the cortex of the skull. The pathophysiology of CED is a gain-of-function variant o...
Potential benefit of rapid genetic testing for Pallister-Hall syndrome [0.03%]
Pallister-Hall综合征快速基因检测的潜在益处
Ayaka Maeda-Usui,Takeshi Sato,Satsuki Nakano et al.
Ayaka Maeda-Usui et al.
Pallister-Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic GLI3 pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypica...
An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding [0.03%]
一个异柠檬酸脱氢酶5变异杂合子婴儿在母乳喂养期间出现高胆固醇血症
Aya Yoshida,Kohei Aoyama,Naoya Yamaguchi et al.
Aya Yoshida et al.
Sitosterolemia (OMIM #210250) is a rare lipid disorder caused by variants in genes encoding adenosine triphosphate (ATP)-binding cassette subfamily G Member 5 (ABCG5) or 8 (ABCG8), which play roles in the intestinal and biliary excretion of...
Response to the Letter to the Editor entitled "Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report" by Amanda Doherty-Kirby, Clin Pediatr Endocrinol 2023;32:72-75 [0.03%]
关于阿曼达·多赫蒂-基伯里来信《葡萄糖激酶成熟型青少年发病糖尿病作为应激性高血糖的假病：一例报告》的回复
Shintaro Terashita
Shintaro Terashita
Safe administration of sotrovimab to a COVID-19 patient with acute phase type 1 diabetes mellitus [0.03%]
1型糖尿病急性发作期的新冠患者可以安全使用索托维单抗治疗
Haruna Tanaka,Masaaki Matsumoto,Sung Won Hong et al.
Haruna Tanaka et al.
Type 1 diabetes mellitus (T1DM) and poor glycemic control are risk factors for severe coronavirus disease 2019 (COVID-19). Sotrovimab can treat mild-to-moderate COVID-19 in patients at a high risk of progression to severe COVID-19. However,...
Reductions in estimated glomerular filtration rate during puberty in GH-treated children born small for gestational age are associated with prematurity and low birth weight, not the dosage of GH treatment [0.03%]
生长激素治疗的早产和出生体重偏低的儿童在青春期期间肾小球滤过率估计值下降与其剂量无关
Mikiko Koizumi,Shinobu Ida,Yuri Etani et al.
Mikiko Koizumi et al.
GH treatment has been widely utilized for short-statured children born small for gestational age (SGA). Although SGA children are at a higher risk of renal dysfunction, the effect of GH treatment on renal function is still unclear. We have ...
Endocrine late effects in survivors of infantile acute lymphoblastic leukemia [0.03%]
婴幼儿急性淋巴细胞白血病幸存者的内分泌后遗症
Hiroko Akisada,Mari Hasegawa,Takashi Ishihara et al.
Hiroko Akisada et al.
Infantile acute lymphoblastic leukemia (ALL) is a rare disease. In survivors, endocrine late effects, such as growth disorder and hypothyroidism, have been reported, but gonadal function remains unclear. Infantile ALL frequently requires tr...
International standard growth charts overestimate stunting prevalence in Nabire and Jakarta, Indonesia, compared to the Indonesian national growth chart [0.03%]
与印度尼西亚国家标准生长曲线相比 国际标准生长曲线高估了纳比雷和雅加达两地的发育不良患病率
Susi Natalia Hasibuan,Mulyadi M Djer,Attika Adrianti Andarie et al.
Susi Natalia Hasibuan et al.
Children's height in Indonesia is increasing slowly and unevenly across the country, with urban areas growing faster than rural areas. Thus, international growth charts may be ineffective for monitoring the development of Indonesian childre...