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1. Asian Neonatal Network Collaboration (AsianNeo): a study protocol for international collaborative comparisons of health services and outcomes to improve quality of care for sick newborn infants in Asia – survey, cohort and quality improvement studies

Author

Yumi Kono, Hidehiko Nakanishi, Satoshi Kusuda, Hirokazu Arai, Maki Sato, Hiroaki Imamura, Takahide Yanagi, Moriharu Sugimoto, Hiroshi Matsumoto, Takashi Nakano, Satoshi Watanabe, Tomoaki Ioroi, Shigeharu Hosono, Makoto Nabetani, Osuke Iwata, Naho Morisaki, Bin Huey Quek, Kaoru Okazaki, Hideaki Harada, Masaki Kobayashi, Yuh-Jyh Lin, Yayoi Miyazono, Isamu Hokuto, Hiroshi Komatsu, Hiroshi Suzuki, Chayatat Ruangkit, Yuko Maruyama, Daisuke Nishi, Shanika Kosarat, Kapila Jayaratne, Tetsuya Isayama, Toshinori Nakashima, Tsutomu Ogata, Takashi Yamagami, Zubair Amin, Shinya Hirano, Seiji Yoshimoto, Chih-Cheng Chen, Yuji Ito, Rinawati Rohsiswatmo, Pertin Sianturi, Rocky Wilar, Dwi Hidayah, Risa Etika, Afifa Ramadanti, Pudji Andayani, Ema Alasiry, Ellen Sianipar, Yosuke Shima, Takashi Tachibana, Takahiro Okutani, Soon Min Lee, Hitoshi Yoda, Ichiro Morioka, Woei Bing Poon, Asao Yara, Akira Nishimura, Masato Ito, Tadayuki Kumagai, Hiroshi Yoshida, Takashi Okuno, Mei-Jy Jeng, Ee-Kyung Kim, Buranee Swatesutipun, Kei Inomata, Yuichi Kato, Kiyoaki Sumi, Atsushi Uchiyama, Narongsak Nakwan, Juyoung Lee, Keiji Goishi, Hiroshi Yamamoto, Hsiu-Ling Chen, Masahiro Kobayashi, Kazumasa Takahashi, Masayuki Ochiai, Fumihiko Ishida, Seok Chiong Chee, Siew Hong Neoh, Ee Lee Ang, Ann Cheng Wong, Masaru Shirai, Toru Ishioka, Toshihiko Mori, Toru Huchimukai, Kyone Ko, Akira Shimazaki, Tatsuya Yoda, Azusa Kobayashi, Yasushi Uchida, Mitsuhiro Ito, Kuniko Ieda, Toshiyuki Ono, Masashi Hayashi, Kanemasa Maki, Kozue Shiomi, Koji Nozaki, Taho Kim, Yasuyuki Tokunaga, Akihiro Takatera, Hiroshi Sumida, Yae Michinomae, Yoshio Kusumoto, Takeshi Morisawa, Tamaki Ohashi, Takahiko Saijo, Kosuke Koyano, Mikio Aoki, Koichi Iida, Mitsushi Goshi, Miho Sato, Hung-Yang Chang, Hironobu Tokumasu, Yoichi Kondo, Arif Budiman, Arief Budiman, Ken Nagaya, Fumihiko Namba, Yun Sil Chang, Masaru Yamakawa, Atsushi Nakao, Masaki Shimizu, Ming-Chih Lin, Jui-Hsing Chang, Shu-Chi Mu, Hung-Chih Lin, Fuyu Miyake, Rizalya Dewi, Yuri Ozawa, Seiichi Tomotaki, Ma Lourdes S Imperial, Belen Amparo E Velasco, Su Jin Cho, YoungAh Youn, Saman Kumara, Hsiang Yu Lin, Pracha Nuntnarumit, Sopapan Ngerncham, Chatchay Prempunpong, Pathaporn Prempraphan, Sarayut Supapannachart, Isra Firmansyah, Eny Yantri, Henri Azis, Ied Imelda, Mustarim ­, Benny Sana Putra, Leni Ervina Jumnalis, Andhika Tiurmaida Hutapea, Nadia Dwi Insani, Agnes Yunie Purwita Sari, Naomi Esthernita Dewanto, Thomas Harry Adoe, Tetty Yuniarti, Adhie Nur Radityo S, Tunjung Wibowo, Kartika Darma Handayani, Dina Djojo Husodo, Brigitta Ida Resita Vebrianti Corebima, Retno Wulandari, Made Sukmawati, I Ketut Adi Wirawan, Made Yuliari, James Thimoty, Sandra Bulan, Takashi Nasu, Yukiteru Tachibana, Ayumu Noro, Toshiya Saito, Yosuke Kaneshi, Nobuko Shiono, Nobuhiro Takahashi, Yusuke Ohkado, Tatsuro Satomi, Mika Nakajima, Eiki Nakamura, Tomofumi Ikeda, Genichiro Sotodate, Mari Ishii, Takahide Hosokawa, Rikio Suzuki, Masatoshi Sanjo, Michiya Kudo, Takushi Hanita, Satoshi Niwa, Masanari Kawamura, Yousuke Sudo, Tsutomu Ishii, Takashi Imamura, Yoshiya Yukitake, Goro Asada, Yasuaki Kobayashi, Yasushi Oki, Kenji Ichinomiya, Toru Fujiu, Hideaki Fukushima, Tetsuya Kunikata, Chika Morioka, Motoichiro Sakurai, Naoto Nishizaki, Satoshi Toishi, Harumi Otsuka, Masahiko Sato, Kenichiro Hirakawa, Kenichiro Hosoi, Hiromichi Shoji, Atsuo Miyazawa, Yuko Nagaoki, Naoki Ito, Ken Masunaga, Reiko Kushima, Sakae Kumasaka, Manabu Sugie, Daisuke Haruhara, Satsuki Kakiuchi, Riki Nishimura, Daisuke Ogata, Ayako Fukuyama, Kuriko Nakamura, Kanji Ogo, Masahiko Murase, Katsuaki Toyoshima, Maha Suzuki, Yoshio Shima, Atsushi Nemoto, Yukihide Miyosawa, Takehiko Hiroma, Gen Kuratsuji, Yoshihisa Nagayama, Tohei Usuda, Rei Kobayashi, Takeshi Hutani, Taketoshi Yoshida, Kazuhide Ohta, Shuya Nagaoki, Yasuhisa Ueno, Toru Ando, Ritsuyo Taguchi, Takeshi Arakawa, Shinji Usui, Tokuso Murabayashi, Shigeru Oki, Reiji Nakano, Taizo Ueno, Masami Shirai, Akira Oishi, Hikaru Yamamoto, Hiroshi Takeshita, Koji Takemoto, Masashi Miyata, Makoto Ohshiro, Masanori Kowaki, Osamu Shinohara, Yasunori Koyama, Takahiro Muramatsu, Akinobu Taniguchi, Naoki Kamata, Hiroshi Uchizono, Kenji Nakamura, Masahito Yamamoto, Jitsuko Ohira, Machiko Sawada, Ryosuke Araki, Daisuke Kinoshita, Ryuji Hasegawa, Shinsuke Adachi, Toru Yamakawa, Masahiko Kai, Hirotaka Minami, Kenji Mine, Reiko Negi, Satoru Ogawa, Ryoko Yoshinare, Atsushi Ogihara, Satoshi Onishi, Hiroyuki Ichiba, Misao Yoshii, Hitomi Okabe, Hiroshi Mizumoto, Masaaki Ueda, Kazumichi Fujioka, Takeshi Utsunomiya, Toshiya Nishikubo, Ken Kumagaya, Akiko Tamura, Masumi Miura, Yuki Hasegawa, Rie Kanai, Kei Takemoto, Koichi Tsukamoto, Misao Kageyama, Rie Fukuhara, Yutaka Nishimura, Seiichi Hayakawa, Yasuhiko Sera, Masahiro Tahara, Shinosuke Fukunaga, Keiko Hasegawa, Hiroshi Tateishi, Tomomasa Terada, Toru Kuboi, Osamu Matsuda, Shinosuke Akiyoshi, Takahiro Motoki, Yusei Nakata, Toshiharu Hikino, Shutaro Suga, Mitsuaki Unno, Hiroshi Kanda, Yasushi Takahata, Hiroyasu Kawano, Takayuki Kokubo, Toshimitsu Takayanagi, Muneichiro Sumi, Fumiko Kinoshita, Masanori Iwai, Naoki Fukushima, Yuki Kodama, Shuichi Yanagibe, Takuya Tokuhisa, Yoriko Kisato, Tatsuo Oshiro, Kazuhiko Nakasone, ChangWon Choi, Young-Ah Youn, Jae Won Shim, Jang Hoon Lee, Ga Won Jeon, Byong Sop Lee, Jin A Lee, Jae Woo Lim, Zuraidah Abdul Latif, Zainah Shaikh Hedra, Baizura Jamaluddin, Hasri Hafidz, Zainab Ishak, Geok Hoon Ngian, Chiong Hung Kiew, Mehala Devi Baskaran, Maslina Mohamad, Chee Sing Wong, Rozitah Razman, Maneet Kaur, Choo Hau Lim, Maizatul Akmar, Sheila Gopal Krishnan, Chae Hee Chieng, Chong Meng Choo, Eric Boon- Kuang Ang, AngShiau Chuen Diong, Angeline Seng- Lian Wan, Sharifah Huda Engku Alwi, Kwee Ching See, Rohani Abdul Jalil, Agnes Suganthi, Mei Ling Lee, Pauline Poh-Ling Choo, Lee Ser Chia, Azanna Ahmad Kamar, Anand Mohan A/L Mohana Lal, Agnes Huei- Hwen Foo, Abdul Nasir Mohamed Abdul Kadher, Ma. Lourdes Imperial, Belen Velasco, Ma. Esterlita V. Uy, Daisy Evangeline Garcia, Jacinto Blas Mantaring, Nethmini Thenuwara, Ming-Chou Chiang, Lan-Wan Wang, Xiao-Ping Wang, Yi-Li Hung, Yung Chieh Lin, Pen-Hua Su, Yung-Ning Yang, Po-Nein Tsao, Liang-Ti Huang, Yi-Yu Su, Shau-Ru Ho, Yan-Yan Ng, Kai-Ti Tseng, Yi-Yin Chen, Tsung-Yu Wu, Wei-Tse Chiu, Li-Jung Fang, Kao-Hsian Hsieh, Anavat Bupphachareonsuk, Anchalee Limrungsikul, Anita Luvira, Anucha Thatrimontrichai, Buranee Yangthara, Cholticha Laohajeeraphan, Hathitip Chaiprapa, Junya Jirapradittha, Kanmalee Jenjarat, Kannikar Booranavanich, Namtip Intub, Patcharin Thanomsingh, Pirarat Kotcharit, Piyawan Phummaphuti, Pornpimon Janyoungsak, Prapaiporn Chongkongkiat, Rapeephun Hansuebsai, Roongrawee Torbunsupachai, Santi Punnahitanan, Sommon Jindakul, Sopida Tanthawat, Sudarat Sirichaipornsak, Sudatip Kositamongkol, Supamas Supabanpot, Suparat Tipprasert, Tanin Pirunnet, Thanatda Siriporn, Usakorn Taesiri, Vasita Jirasakuldech, and Eleanor DR Cuarte

Subjects
Medicine
Abstract

Introduction Reducing neonatal deaths in premature infants in low- and middle-income countries is key to reducing global neonatal mortality. International neonatal networks, along with patient registries of premature infants, have contributed to improving the quality of neonatal care; however, the involvement of low-to-middle-income countries was limited. This project aims to form an international collaboration among neonatal networks in Asia (AsianNeo), including low-, middle- and high-income countries (or regions). Specifically, it aims to determine outcomes in sick newborn infants, especially very low birth weight (VLBW) infants or very preterm infants, with a view to improving the quality of care for such infants.Methods and analysis Currently, AsianNeo comprises nine neonatal networks from Indonesia, Japan, Malaysia, Philippines, Singapore, South Korea, Sri Lanka, Taiwan and Thailand. AsianNeo will undertake the following four studies: (1) institutional questionnaire surveys investigating neonatal intensive care unit resources and the clinical management of sick newborn infants, with a focus on VLBW infants (nine countries/regions); (2) a retrospective cohort study to describe and compare the outcomes of VLBW infants among Asian countries and regions (four countries/regions); (3) a prospective cohort study to develop the AsianNeo registry of VLBW infants (six countries/regions); and (4) implementation and evaluation of educational and quality improvement projects in AsianNeo countries and regions (nine countries/regions).Ethics and dissemination The study protocol was approved by the Research Ethics Board of the National Center for Child Health and Development, Tokyo, Japan (reference number 2020–244, 2022–156). The study findings will be disseminated through educational programmes, quality improvement activities, conference presentations and medical journal publications.

Published
2024
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2. Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan

Author

Hideyuki Iwayama, Tatsushi Tanaka, Kohei Aoyama, Masaharu Moroto, Shinsuke Adachi, Yasuko Fujisawa, Hiroki Matsuura, Kyoko Takano, Haruo Mizuno, and Akihisa Okumura

Subjects
magnetic resonance imaging, thyroid hormone transporter, white matter, Allan-Herdon-Dudlley syndrome, reginal analysis, delayed myelination, Neurology. Diseases of the nervous system, RC346-429
Abstract

Background: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transmembrane transporter protein. MCT8 deficiency induces severe X-linked psychomotor retardation. Previous reports have documented delayed myelination in the central white matter (WM) in these patients; however, the regional pattern of myelination has not been fully elucidated. Here, we describe the regional evaluation of myelination in four patients with MCT8 deficiency. We also reviewed the myelination status of previously reported Japanese patients with MCT8 deficiency based on magnetic resonance imaging (MRI).Case Reports: Four patients were genetically diagnosed with MCT8 deficiency at the age of 4–9 months. In infancy, MRI signal of myelination was observed mainly in the cerebellar WM, posterior limb of internal capsule, and the optic radiation. There was progression of myelination with increase in age.Discussion: We identified 36 patients with MCT8 deficiency from 25 families reported from Japan. The available MRI images were obtained at the age of

Published
2021
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3. Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency

Author

Khemraj Hirani, Kyoko Takano, Akihisa Okumura, Masahiro Kikuchi, Yasumasa Yamada, Yasuko Fujisawa, Roy E. Weiss, Hiroki Kakita, Hideyuki Iwayama, Shinsuke Adachi, Hitoshi Osaka, Masumi Iwasa, and Samuel Refetoff

Subjects
Male, Triiodothyronine, Reverse, Endocrinology, Diabetes and Metabolism, Original Studies, Cell membrane, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Neurodevelopmental disorder, Thyroid hormone transport, Monocarboxylate transporter, Triiodothyronine, Symporters, biology, Chemistry, dried blood spot, MCT8 deficiency, Dried blood spot, Muscular Atrophy, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Muscle Hypotonia, Female, Monocarboxylic Acid Transporters, medicine.medical_specialty, 030209 endocrinology & metabolism, 03 medical and health sciences, Neonatal Screening, Predictive Value of Tests, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, LC-MS/MS, Retrospective Studies, Newborn screening, newborn screening, Infant, Newborn, medicine.disease, Reverse triiodothyronine, Early Diagnosis, Mutation, Mental Retardation, X-Linked, biology.protein, Dried Blood Spot Testing, reverse T3, Biomarkers, Thyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests
Abstract

Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X-chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transport across the cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as the inability of standard biomarkers of neonatal screening to provide early detection. In this study, we report, for the first time, the ability to detect MCT8 deficiency at birth using dried blood spot (DBS) samples. Methods: We retrospectively measured triiodothyronine (T3), thyroxine (T4), and reverse T3 (rT3) levels in DBS samples obtained at 4–5 days of life from 6 infants with genetically confirmed MCT8 deficiency and from 110 controls. The latter consisted of 58 healthy term neonates obtained at the same time, 16 were stored for more than 1 year before measurement to match samples from the MCT8-deficient infants. Ten DBS samples were collected at day 1 of life and 42 samples were from prematurely born neonates. Measurements were carried out in extract from eight millimeters diameter DBS using liquid chromatography-tandem mass spectrometry. Results: Contrary to characteristic iodothyronine abnormalities of MCT8 deficiency during later life, T3 and T4 values were not discriminatory from those of other study groups. In contrast, rT3 was significantly lower. The T3/rT3 ratio was higher in the DBS samples from the MCT8-deficient infants compared with all other groups with no overlap (p

Published
2021
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4. Decrement in bone mineral density after parathyroidectomy in a pediatric patient with primary hyperparathyroidism

Author

Hisakazu Nakajima, Shota Fukuhara, Keiichi Shigehara, Jun Mori, Hidechika Morimoto, Shinsuke Adachi, and Hajime Hosoi

Subjects
Parathyroidectomy, musculoskeletal diseases, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Definitive Therapy, medicine.medical_treatment, Urology, 030209 endocrinology & metabolism, Case Report, Short stature, Bone remodeling, hyperparathyroidism, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, ectopic parathyroid gland, Bone mineral, Hyperparathyroidism, business.industry, medicine.disease, short stature, Pediatric patient, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, medicine.symptom, business, bone mineral density, Primary hyperparathyroidism
Abstract

Primary hyperparathyroidism (PHT) causes increased bone turnover, leading to reduction in bone mineral density (BMD). Parathyroidectomy is a definitive therapy and improves BMD in adult patients with PHT. However, there are no reports regarding alterations of BMD in pediatric or adolescent patients with PHT. Here, we report a case of a 13-yr-old boy with PHT who was referred to our institution for evaluation of hypercalcemia and hyperparathyroidism. Radiological investigation revealed an ectopic parathyroid adenoma below the right thyroid lobe. A minimally invasive radio-guided parathyroidectomy was successfully performed. We followed up the patient’s BMD for three years both before and after parathyroidectomy. Over the course of three years, his BMD was steadily decreased, with z-scores of +0.506 at 13 yr and 9 mo, +0.162 at 14 yr and 9 mo, and –0.411 at 15 yr and 9 mo. BMD usually increases during peak height velocity in an adolescent and improves after parathyroidectomy in adult patients with PHT. However, our patient showed decreased BMD z-scores following parathyroidectomy. Therefore, the patient had an increased risk of fracture after parathyroidectomy and was followed up closely. Both height and BMD should be carefully evaluated after parathyroidectomy in pediatric and adolescent patients with PHT.

Published
2018

5. Reverse T3 Level and T3 to Reverse T3 Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Diagnosis of MCT8 Deficiency

Author

Kyoko Takano, Akihisa Okumura, Hideyuki Iwayama, Masahiro Kikuchi, Samuel Refetoff, Yasumasa Yamada, Masumi Iwasa, Yasuko Fujisawa, Hitoshi Osaka, Shinsuke Adachi, and Hiroki Kakita

Subjects
Thyroid, Reverse t3, business.industry, Endocrinology, Diabetes and Metabolism, Medicine, Food science, business, Thyroid Hormone Metabolism and Action, AcademicSubjects/MED00250, Dried blood spot
Abstract

Background: Monocarboxylate transporter 8 (MCT8) deficiency is an X- chromosome-linked neurodevelopmental disorder resulting from impaired thyroid hormone transporter across cell membrane. The diagnosis of MCT8 deficiency is typically delayed owing to the late appearance of signs and symptoms as well as inability of standard biomarkers of neonatal screening to make an early diagnosis. Here, we report for the first time the ability to identify MCT8 deficiency at birth using dried blood spot (DBS) samples. Methods: We measured T3, T4, and reverse T3 (rT3) levels in DBS samples obtained at birth in healthy neonates (n = 42) and neonates with genetically confirmed diagnosis of MCT8 deficiency (n = 6). T3, rT3 and T4 levels were measured in 8 mm diameter DBS samples using liquid chromatography-tandem mass spectrometry. Results: Mean ± SD level of T3 tended to be higher in the MCT8 group than that in healthy neonates (0.941 ± 0.183 ng/mL vs. 0.742 ± 0.195 ng/mL, p = 0.0525). More importantly rT3 level in the MCT8 group was significantly lower than that in healthy neonates (0.317 ± 0.065 ng/mL vs. 0.768 ± 0.196 ng/mL, p < 0.0001) and the T3/rT3 ratio in the MCT8 group was significantly higher (3.04 ± 0.67 vs. 1.01 ± 0.34, p < 0.0001) with no overlap of values. T4 was lower in the MCT8 group than in healthy babies (93.4 ± 22.4 ng/mL vs. 156.7 ± 35.9 ng/mL, p < 0.0005) and the T3/T4 ratio of the MCT8 deficient group was higher (0.0105 ± 0.0029 vs. 0.0051 ± 0.0010, p< 0.0001). Conclusion: rT3 and T3/rT3 ratio measured in the DBS obtained from neonates can serve as biomarkers for diagnosis of MCT8 deficiency at birth.

Published
2021

6. Decrement in bone mineral density after parathyroidectomy in a pediatric patient with primary hyperparathyroidism.

Author

Hidechika Morimoto, Hisakazu Nakajima, Jun Mori, Shota Fukuhara, Keiichi Shigehara, Shinsuke Adachi, and Hajime Hosoi

Subjects
PARATHYROIDECTOMY, BONE density, PARATHYROID glands
Abstract

Primary hyperparathyroidism (PHT) causes increased bone turnover, leading to reduction in bone mineral density (BMD). Parathyroidectomy is a definitive therapy and improves BMD in adult patients with PHT. However, there are no reports regarding alterations of BMD in pediatric or adolescent patients with PHT. Here, we report a case of a 13-yr-old boy with PHT who was referred to our institution for evaluation of hypercalcemia and hyperparathyroidism. Radiological investigation revealed an ectopic parathyroid adenoma below the right thyroid lobe. A minimally invasive radio-guided parathyroidectomy was successfully performed. We followed up the patient's BMD for three years both before and after parathyroidectomy. Over the course of three years, his BMD was steadily decreased, with z-scores of +0.506 at 13 yr and 9 mo, +0.162 at 14 yr and 9 mo, and -0.411 at 15 yr and 9 mo. BMD usually increases during peak height velocity in an adolescent and improves after parathyroidectomy in adult patients with PHT. However, our patient showed decreased BMD z-scores following parathyroidectomy. Therefore, the patient had an increased risk of fracture after parathyroidectomy and was followed up closely. Both height and BMD should be carefully evaluated after parathyroidectomy in pediatric and adolescent patients with PHT. [ABSTRACT FROM AUTHOR]

Published
2018
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