The burden of disease of X-linked hypophosphatemia (XLH) in East Asia is poorly understood. This was a cross-sectional study using an online questionnaire to evaluate health-related quality of life (HRQOL) and disease complications in Japanese and Korean patients with XLH. Adults with XLH and the caregivers of children <18 years of age with XLH in Japan and Korea were surveyed. Respondents disclosed demographic data, family history, diagnostic history, medical history, surgical history, disease-specific clinical symptoms, treatment, medications, and use of ancillary equipment. Patient-reported outcomes (PROs; the Western Ontario and McMaster Universities Osteoarthritis Index, the brief pain inventory, and the 36-item short form health survey version 2) were used to assess pain, disability, and HRQOL in adults. Of those surveyed, all 14 children (100%) and 30/32 adults (93.8%) were receiving treatment for XLH. However, despite oral phosphate and active vitamin D use, short stature, gait abnormalities, dental conditions, and decreased physical function were reported. Stapling of the growth plates was reported in 14.3% of children but no adults. Adult patients reported high rates of bone pain (59.4%) and joint pain (65.6%). Caregivers of children with XLH also reported the occurrence of bone pain (35.7%) and joint pain (35.7%). Many adult patients had a history of impaired renal function (9.5%), nephrocalcinosis (15.6%), hyperparathyroidism (15.6%), and parathyroidectomy (6.3%), all of which are associated with conventional XLH treatments. These data show that patients (both pediatric and adult) continue to have symptoms such as pain, disability, and various complications despite receiving conventional therapies.
X-linked hypophosphatemia (XLH) in known to substantially secrete FGF23, thereby causing renal phosphate loss, chronic hypophosphatemia and a variety of involvement in skeletal system. However, the reality in clinics has not been fully examined. In the present study, via the online questionnaire methods, Ito N et al. comprehensively evaluate the current status and health-related quality of life in patients with XLH living in Japan and Korea, providing us with the latest knowledge and insight into XHL.
Metabolic syndrome (MetS) is cluster of metabolic diseases, including abdominal obesity, hyperglycemia, high blood pressure, and dyslipidemia, that directly escalate the risk of type 2 diabetes, heart disease, and stroke. Thioredoxin-interacting protein (TXNIP) is a binding protein for thioredoxin, a molecule that is a key inhibitor of cellular oxidation, and thus regulates the cellular redox state. Epigenetic alteration of the TXNIP-encoding locus has been associated with components of MetS. In the present study, we sought to determine whether the level of TXNIP methylation in blood is associated with MetS in the general Japanese population. DNA was extracted from the peripheral blood cells of 37 subjects with and 392 subjects without MetS. The level of TXNIP methylation at cg19693031 was assessed by the bisulfite-pyrosequencing method. We observed that TXNIP methylation levels were lower in MetS subjects (median 74.9%, range 71.7–78.4%) than in non-MetS subjects (median 77.7%, range 74.4–80.5%; p = 0.0024). Calculation of the confounding factor-adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for hypomethylation revealed that subjects with MetS exhibited significantly higher ORs for hypomethylation than did those without MetS (OR, 2.92; 95% CI, 1.33–6.62; p = 0.009). Our findings indicated that lower levels of TXNIP methylation are associated with MetS in the general Japanese population. Altered levels of DNA methylation in TXNIP at cg19693031 might play an important role in the pathogenesis of MetS.
Convincing and conveniently-evaluated molecular biomarkers for prediction and assessment of metabolic syndrome are warranted to realize precision health as well as precision medicine in lifestyle-related diseases. In the present study, Yamazaki M and colleague provide intriguing evidence that level of DNA methylation of the gene encoding thioredoxin-interacting protein, a key inhibitor of cellular oxidation, is significantly decreased in peripheral blood cells from subjects with metabolic syndrome. Further extensive studies are strongly expected to see whether such a status of hypomethylation is clinically relevant to the extent of systemic oxidative stress and would be reversible in response to a line of lifestyle modifications or metabolic surgeries.
The Japanese Society of Thyroid Pathology and the Japan Association of Endocrine Surgeons developed the eighth edition of the General Rules for the Description of Thyroid Cancer (GRDTC) in December 2019. This article describes the pathological diagnosis of the GRDTC, which has been improved through repeated revisions based on the experience of Japanese pathologists and translated into English to introduce the Japanese diagnostic standard to foreign countries. In this edition of the GRDTC, the histopathological classification and descriptions differ in some respects from those of the fourth edition of the World Health Organization (WHO) classification as revised in 2017. For example, the GRDTC does not adopt the concept of borderline lesions (FT-UMP, WDT-UMP, and NIFTP) of the WHO, taking into consideration the popular histological criteria accepted by Japanese pathologists. The cytological reporting system of the GRDTC was partly modified from the Bethesda system in 2015. It has an additional cyst fluid category separated from the unsatisfactory category that has been demonstrated to be useful in Japan. This translated edition makes it easy to submit Japanese clinicopathological studies of thyroid tumors in an international journal. We also wish to contribute to the improvement, standardization, and globalization of the pathological diagnosis of thyroid tumors.
In this issue, Kamma H and colleague highlight the update of general rules for the description of thyroid cancer proposed by Japanese Society of Thyroid Pathology and Japan Association of Endocrine Surgery. This article is strongly expected to lay a brand-new cornerstone in transferring Japanese diagnostic standard on thyroid cancer for the world.
The etiology of central diabetes insipidus (DI) is classified into (1) idiopathic, (2) familial, and (3) secondary. Of these, familial central diabetes insipidus shows an autosomal dominant inheritance. We herein report a case in which this disease was diagnosed based on a family history of nocturnal enuresis. A 40-year-old man had had symptoms of polydipsia, polyuria and nocturia since childhood and found that his daughter had the same symptoms. Despite reaching nine years old, his daughter’s nocturnal enuresis still had not improved, resulting in her consulting a pediatrician. She was suspected of having familial neurohypophyseal diabetes insipidus (FNDI) based on her family history and was referred along with her father for a detailed examination and treatment. A hypertonic saline load test (HSLT) to evaluate the arginine vasopressin (AVP) reaction was performed in both the proband and his daughter. The results showed no increase in AVP levels in response to high plasma osmolality. The water deprivation test (WDT) revealed he was suffering from partial DI. Based on the above findings and considering the possibility of familial central diabetes insipidus, we performed a gene mutation analysis of AVP-neurophysin II (NPII). Both the father and daughter had an exon 2 abnormality in this gene (c232_234delGAG; pGlu78del), and this gene mutation is known to cause NPII protein abnormality, abolishing the function of AVP as a carrier protein. This case was considered to have provided an opportunity to understand the role of an NPII gene abnormality in familial central diabetes insipidus.
In this issue, Sugawara L and colleague provide a line of convincing results of genetic analyses on neurophysin II (NPII) in a pedigree of neurohypophyseal diabetes insipidus.
Effect of oral administration of nicotinamide mononucleotide on clinical parameters and nicotinamide metabolite levels in healthy Japanese men
Released on J-STAGE: February 28, 2020 | Volume 67 Issue 2 Pages 153-160
Junichiro Irie, Emi Inagaki, Masataka Fujita, Hideaki Nakaya, Masanori Mitsuishi, Shintaro Yamaguchi, Kazuya Yamashita, Shuhei Shigaki, Takashi Ono, Hideo Yukioka, Hideyuki Okano, Yo-ichi Nabeshima, Shin-ichiro Imai, Masato Yasui, Kazuo Tsubota, Hiroshi Itoh
Views: 406
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency
Released on J-STAGE: September 28, 2019 | Volume 66 Issue 9 Pages 837-842
Goro Sasaki, Tomohiro Ishii, Naoaki Hori, Naoko Amano, Keiko Homma, Seiji Sato, Tomonobu Hasegawa
Views: 308
Effects of berberine on blood glucose in patients with type 2 diabetes mellitus: a systematic literature review and a meta-analysis
Released on J-STAGE: January 28, 2019 | Volume 66 Issue 1 Pages 51-63
Yaping Liang, Xiaojia Xu, Mingjuan Yin, Yan Zhang, Lingfeng Huang, Ruoling Chen, Jindong Ni
Views: 276
Switching from the tablet to the powder formulation of levothyroxine corrects severe hypothyroidism in a patient with lactose intolerance
Released on J-STAGE: March 04, 2022 |
Article ID EJ21-0656
Teruo Jojima, Toshimitsu Shinzawa, Eriko Ohira, Shintaro Sakurai, Takuya Tomaru, Toshie Iijima, Takahiko Kogai, Isao Usui, Yoshimasa Aso
Views: 271
Japan Endocrine Society clinical practice guideline for the diagnosis and management of primary aldosteronism 2021
Released on J-STAGE: April 12, 2022 |
Article ID EJ21-0508
Mitsuhide Naruse, Takuyuki Katabami, Hirotaka Shibata, Masakatsu Sone, Katsutoshi Takahashi, Akiyo Tanabe, Shoichiro Izawa, Takamasa Ichijo, Michio Otsuki, Masao Omura, Yoshihiro Ogawa, Yutaka Oki, Isao Kurihara, Hiroki Kobayashi, Ryuichi Sakamoto, Fumitoshi Satoh, Yoshiyu Takeda, Tomoaki Tanaka, Kouichi Tamura, Mika Tsuiki, Shigeatsu Hashimoto, Tomonobu Hasegawa, Takanobu Yoshimoto, Takashi Yoneda, Koichi Yamamoto, Hiromi Rakugi, Norio Wada, Aya Saiki, Youichi Ohno, Tatsuya Haze
Views: 255