Faculty Profiles - YOSHIMOTO Junko

Papers - YOSHIMOTO Junko

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全前脳胞症を合併した13番染色体長腕部分トリソミーの一例 Reviewed

大野友香子, 吉本順子, 秋山麻里, 鷲尾洋介, 岡村朋香, 渡邉宏和, 森本大作, 佐藤剛史, 塚原宏一, 小林勝弘

日本周産期・新生児医学会雑誌 60 ( 2 ) 287 - 291 2024.9

Authorship：Corresponding author Language：Japanese Publisher：(一社)日本周産期・新生児医学会

13番染色体長腕部分トリソミー(以下,13q部分トリソミー)に全前脳胞症(holoprosencephaly:HPE)が合併した1例を経験した.小頭,眼間狭小,鼻中隔欠損,右唇顎口蓋裂など顔面正中部の低形成を認め,頭部単純MRI検査でlobar型のHPEと診断した.生後3ヵ月でWest症候群を発症し,急性呼吸不全のため4歳2ヵ月で死亡した.染色体核型は46,XX,rec(13)dup(13q)inv(13)(p12q14.1)matで,母の腕間逆位に由来していた.13q部分トリソミーの表現型は,13トリソミーに比べ軽症例が多く,生命予後も良好と考えられてきた.本症例は,これまでの報告例には共通しない表現型としてHPEを合併したために重篤な経過を示した.13q部分トリソミーの表現型と重複部位の関連を明らかにするためには,さらなる症例の集積が必要と考えられる.(著者抄録)

Other Link： https://search.jamas.or.jp/default/link?pub_year=2024&ichushi_jid=J04116&link_issn=&doc_id=20240913470018&doc_link_id=10.34456%2Fjjspnm.60.2_287&url=https%3A%2F%2Fdoi.org%2F10.34456%2Fjjspnm.60.2_287&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Long-term survival of an infant with complete tetraploidy: A case report. International journal

Tomoka Okamura, Junko Yoshimoto, Daisaku Morimoto, Hirokazu Wanatabe, Yosuke Washio

American journal of medical genetics. Part A e63717 2024.6

Authorship：Corresponding author Language：English Publishing type：Research paper (scientific journal)

We present the case of a girl with complete tetraploidy who has survived to her present age of 4 years and 1 month. Infants with complete tetraploidy have been described to have a limited lifespan owing to complications. We report her characteristics, medical history, and development.

DOI： 10.1002/ajmg.a.63717

Machine Learning to Improve Accuracy of Transcutaneous Bilirubinometry. International journal

Daisaku Morimoto, Yosuke Washio, Kana Fukuda, Takeshi Sato, Tomoka Okamura, Hirokazu Watanabe, Junko Yoshimoto, Maki Tanioka, Hirokazu Tsukahara

Neonatology 1 - 8 2024.4

Language：English Publishing type：Research paper (scientific journal)

INTRODUCTION: This study aimed to develop models for predicting total serum bilirubin by correcting errors of transcutaneous bilirubin using machine learning based on neonatal biomarkers that could affect spectrophotometric measurements of tissue bilirubin. METHODS: This retrospective study included infants born at our hospital (≥36 weeks old, ≥2,000 g) between January 2020 and December 2022. Infants without a phototherapy history were included. Robust linear regression, gradient boosting tree, and neural networks were used for machine learning models. A neural network, inspired by the structure of the human brain, was designed comprising three layers: input, intermediate, and output. RESULTS: Totally, 683 infants were included. The mean (minimum-maximum) gestational age, birth weight, participant age, total serum bilirubin, and transcutaneous bilirubin were 39.0 (36.0-42.0) weeks, 3,004 (2,004-4,484) g, 2.8 (1-6) days of age, 8.50 (2.67-18.12) mg/dL, and 7.8 (1.1-18.1) mg/dL, respectively. The neural network model had a root mean square error of 1.03 mg/dL and a mean absolute error of 0.80 mg/dL in cross-validation data. These values were 0.37 mg/dL and 0.28 mg/dL, smaller compared to transcutaneous bilirubin, respectively. The 95% limit of agreement between the neural network estimation and total serum bilirubin was -2.01 to 2.01 mg/dL. Unnecessary blood draws could be reduced by up to 78%. CONCLUSION: Using machine learning with transcutaneous bilirubin, total serum bilirubin estimation error was reduced by 25%. This integration could increase accuracy, lessen infant discomfort, and simplify procedures, offering a smart alternative to blood draws by accurately estimating phototherapy thresholds.

DOI： 10.1159/000535970

Short stature in small-for-gestational-age offspring born to mothers with hypertensive disorders of pregnancy. International journal

Sakurako Mishima, Takashi Mitsui, Kazumasa Tani, Jota Maki, Eriko Eto, Kei Hayata, Yosuke Washio, Junko Yoshimoto, Hirokazu Tsukahara, Hisashi Masuyama

Hypertension in pregnancy 42 ( 1 ) 2187623 - 2187623 2023.12

Language：English Publishing type：Research paper (scientific journal)

OBJECTIVE: To investigate the incidence and risk factors of small-for-gestational age (SGA) short stature at 2 and 3 years of age in SGA offspring born to women with hypertensive disorders of pregnancy (HDP). METHODS: We examined 226 women with HDP whose respective SGA offspring were delivered. RESULTS: Eighty offspring (41.2%) were diagnosed with SGA short stature. The prematurity before 32 weeks of gestation was the most significant factor for catch-up growth failure. CONCLUSION: In SGA offspring born to women with HDP, SGA short stature incidence was high, and the risk factor was prematurity before 32 weeks of gestation.

DOI： 10.1080/10641955.2023.2187623

A nationwide birth cohort in Japan showed increased risk of early childhood hospitalisation in infants born small for gestational age. International journal

Asami Ohyama, Naomi Matsumoto, Kei Tamai, Yosuke Washio, Junko Yoshimoto, Takashi Yorifuji, Hirokazu Tsukahara

Acta paediatrica (Oslo, Norway : 1992) 2023.11

Language：English Publishing type：Research paper (scientific journal)

AIM: To examine associations between children being born small for gestational age and childhood hospitalisation following term and preterm births. METHODS: This study included 34 564 children from a nationwide population-based longitudinal survey starting in 2010, comprising 32 603 term births and 1961 preterm births. Children's hospitalisation history was examined during two observational periods, 6-18 and 6-66 months of age. Logistic regression analysis was conducted, adjusting for child and parental confounders, with children born appropriate for gestational age as reference. RESULTS: Children born small for gestational age were more likely to be hospitalised during early childhood than those born appropriate for gestational age. The odds ratio (95% confidence interval) for hospitalisation from 6 to 66 months of age was 1.19 (1.05-1.34) in term children born small for gestational age and 1.47 (1.05-2.06) for preterm children born small for gestational age, compared with those born appropriate for gestational age. The risk of hospitalisation from 6 to 66 months of age in children born small for gestational age was observed for bronchitis/pneumonia. CONCLUSION: We observed the adverse effects of small for gestational age on hospitalisation during early childhood in both term and preterm births, particularly for bronchitis and pneumonia.

DOI： 10.1111/apa.17032

Postnatal longitudinal analysis of serum Nitric oxide and eosinophil counts in extremely preterm infants. International journal

Hirokazu Watanabe, Yosuke Washio, Kei Tamai, Daisaku Morimoto, Tomoka Okamura, Junko Yoshimoto, Hidehiko Nakanishi, Misao Kageyama, Atsushi Uchiyama, Hirokazu Tsukahara, Satoshi Kusuda

Pediatrics and neonatology 2023.10

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Nitric oxide (NO) may be related to the pathogenesis of several morbidities in extremely preterm infants, including late-onset adrenal insufficiency. However, eosinophilia is observed under pathological conditions with adrenal insufficiency. Therefore, this study explored postnatal changes in NO levels and eosinophil counts in extremely preterm infants with and without morbidities. METHODS: Nineteen extremely preterm infants with a median gestational age of 27.0 weeks and median birth weight of 888 g were enrolled in this study. Serum levels of nitrogen oxides (NOx) and peripheral blood eosinophil counts were measured at birth and every 2 weeks thereafter. Morbidities of the study group were diagnosed using a single criterion. RESULTS: Serum NOx levels (mean ± standard deviation) were 22.5 ± 14.9 μmol/L, 51.2 ± 23.7 μmol/L, 42.4 ± 15.2 μmol/L, and 33.8 ± 9.4 μmol/L at birth and 2, 4, and 6 weeks of age, respectively. The serum NOx level at 2 weeks of age was significantly higher than that at birth and 6 weeks of age. Eosinophil counts, which increase with adrenal insufficiency, were measured simultaneously and were 145 ± 199/μL, 613 ± 625/μL, 466 ± 375/μL, and 292 ± 228/μL at birth and 2, 4, and 6 weeks of age, respectively. These values showed that the eosinophil count was significantly higher at 2 weeks of age than at birth and 6 weeks of age. The serum NOx level of infants without chorioamnionitis was significantly increased at 4 weeks of age, and the eosinophil count of infants with necrotizing enterocolitis was significantly increased at 2 weeks of age. No correlation with the NOx level or eosinophil count was observed in infants with late-onset circulatory collapse. CONCLUSION: The postnatal serum NOx level and eosinophil count were significantly correlated with each other and peaked at 2 weeks of age.

DOI： 10.1016/j.pedneo.2023.08.006

Three Cases of Down Syndrome with Transient Abnormal Myelopoiesis who Underwent Liver Biopsy before Induction of Low-Dose Cytarabine.

Kana Washio, Kosuke Tamefusa, Motoharu Ochi, Kiichiro Kanamitsu, Hisashi Ishida, Kaori Fujiwara, Kenji Nishida, Kei Tamai, Yosuke Washio, Junko Yoshimoto, Takuo Noda, Hirokazu Tsukahara

Acta medica Okayama 77 ( 2 ) 215 - 220 2023.4

Language：English

Among patients with transient abnormal myelopoiesis (TAM) associated with Down syndrome, approximately 20% die within 6 months from multiorgan failure, especially liver fibrosis. We experienced three children with TAM who had low white blood cell counts but increased bilirubin levels. Here, we discuss the detailed clinical courses of these patients, including the pathological findings of liver biopsies. Our cases, together with previous literature, suggest that liver biopsy can be performed safely and provides useful information, especially regarding disease activities, and that low-dose cytarabine is a reasonable option to prevent early death in TAM patients with liver dysfunction.

DOI： 10.18926/AMO/65153

Longitudinal Measurement of Histidine-Rich Glycoprotein Levels in Bronchopulmonary Dysplasia: A Pilot Study. International journal

Daisaku Morimoto, Yosuke Washio, Kei Tamai, Takeshi Sato, Tomoka Okamura, Hirokazu Watanabe, Yu Fukushima, Junko Yoshimoto, Misao Kageyama, Kenji Baba, Hirokazu Tsukahara

Biomedicines 11 ( 1 ) 2023.1

Language：English Publishing type：Research paper (scientific journal)

Histidine-rich glycoprotein (HRG) has been reported to inhibit signaling leading to the release of high mobility group box 1 protein, a damage-associated molecular pattern. The present study aimed to determine the longitudinal change in HRG levels in extremely preterm infants and assess whether complications such as bronchopulmonary dysplasia (BPD) were associated with differences in HRG levels. In this multicenter, prospective, observational study, we measured serum HRG levels every 2 weeks from birth to 8 weeks of age. Serum HRG was measured using an enzyme-linked immunosorbent assay. We included 19 extremely preterm infants in the study and 74 samples were analyzed. The median gestational age was 26.0 weeks, and the median birth weight was 858 g. Serum HRG levels showed a significant upward trend after birth (p < 0.001); median HRG concentrations at birth and at 2, 4, 6, and 8 weeks of age were 1.07, 1.11, 2.86, 6.05, and 7.49 µg/mL, respectively. Onset of BPD was not associated with differences in serum HRG levels. Further, the serum HRG levels increased significantly after birth in extremely preterm infants.

DOI： 10.3390/biomedicines11010212

Prediction model for nonopiate-induced neonatal abstinence syndrome. International journal

Daisaku Morimoto, Yosuke Washio, Takeshi Sato, Tomoka Okamura, Hirokazu Watanabe, Junko Yoshimoto, Hirokazu Tsukahara

Pediatrics international : official journal of the Japan Pediatric Society 65 ( 1 ) e15435 2023.1

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: Neonatal abstinence syndrome (NAS) induced by opiate use is common worldwide. Psychiatric drugs are a more common cause of NAS in Japan but infants of mothers taking psychiatric medications do not always develop NAS. The purpose of this study was to develop a practical model for predicting the onset of nonopiate-induced NAS, using variables available at birth. METHODS: In this diagnostic study, prediction models were developed using multivariable logistic regression with retrospective data collected at our hospital between 2010 and 2019. The NAS diagnosis was based on the Isobe score, and maternal medications were converted to dose equivalents. RESULTS: A total of 164 maternal and infant dyads met the inclusion criteria; 91 were included in the analysis, of whom 29 infants (32%) were diagnosed with NAS. Final models were created with and without the drug indices. The model without the drug indices consisted of neonatal head circumference in z-scores and Apgar scores at 5 min < 9, and the model with the drug indices included these, as well as antipsychotics and hypnotics indices. The C-statistics were 0.747 (95% CI: 0.638-0.856), and 0.795 (95% CI: 0.683-0.907), respectively, indicating that the models possessed good predictive accuracy for NAS onset. CONCLUSIONS: This study developed models that predicted nonopiate-induced NAS accurately. They may be further improved through the use of drug indices.

DOI： 10.1111/ped.15435

Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods.

Kosei Hasegawa, Natsuko Futagawa, Yuko Ago, Hiroyuki Miyahara, Daisuke Harada, Mari Miyazawa, Junko Yoshimoto, Kenji Baba, Tadashi Moriwake, Hiroyuki Tanaka, Hirokazu Tsukahara

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 32 ( 4 ) 221 - 227 2023

Language：English Publishing type：Research paper (scientific journal)

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year of life. These disturbances lead to severe short stature with short limbs, brachydactyly, scoliosis, joint laxity, joint pain since childhood, and a normal face. Epimetaphyseal dysplasia, shortened long bones, and short metacarpals and phalanges are common findings on radiological examination. Additionally, anterior tonguing of the vertebral bodies in the lateral view is an important finding in childhood because it is specific to PSACH and normalizes with age. Here, we report five Japanese patients with PSACH, with one recurrent (p.Cys351Tyr) and four novel heterozygous pathogenic COMP variants (p.Asp437Tyr, p.Asp446Gly, p.Asp507Tyr, and p.Asp518Val). These five pathogenic variants were located in the calcium-binding type 3 (T3) repeats. In four of the novel variants, the affected amino acid was aspartic acid, which is abundant in each of the eight T3 repeats. We describe the radiological findings of these five patients. We also retrospectively analyzed the sequential changes in the vertebral body and epimetaphysis of the long bones from the neonatal to infantile periods in a patient with PSACH and congenital heart disease.

DOI： 10.1297/cpe.2023-0035

Novel selectively amplified DNA sequences in the germline genome of the Japanese hagfish, Eptatretus burgeri. International journal

Kohei Nagao, Tomoko Otsuzumi, Hitomi Chinone, Takashi Sasaki, Junko Yoshimoto, Makiko Matsuda, Souichirou Kubota, Yuji Goto

Scientific reports 12 ( 1 ) 21373 - 21373 2022.12

Language：English Publishing type：Research paper (scientific journal)

In the Japanese hagfish Eptatretus burgeri, 16 chromosomes (eliminated [E]-chromosomes) have been lost in somatic cells (2n = 36), which is equivalent to approx. 21% of the genomic DNA in germ cells (2n = 52). At least seven of the 12 eliminated repetitive DNA families isolated in eight hagfish species were selectively amplified in the germline genome of this species. One of them, EEEb1 (eliminated element of E. burgeri 1) is exclusively localized on all E-chromosomes. Herein, we identified four novel eliminated repetitive DNA families (named EEEb3-6) through PCR amplification and suppressive subtractive hybridization (SSH) combined with Southern-blot hybridization. EEEb3 was mosaic for 5S rDNA and SINE elements. EEEb4 was GC-rich repeats and has one pair of direct and inverted repeats, whereas EEEb5 and EEEb6 were AT-rich repeats with one pair and two pairs of sub-repeats, respectively. Interestingly, all repeat classes except EEEb3 were transcribed in the testes, although no open reading frames (ORF) were identified. We conducted fluorescence in situ hybridization (FISH) to examine the chromosomal localizations of EEEb3-6 and EEEb2, which was previously isolated from the germline genome of E. burgeri. All sequences were only found on all EEEb1-positive E-chromosomes. Copy number estimation of the repeated elements by slot-blot hybridization revealed that (i) the EEEb1-6 family members occupied 39.9% of the total eliminated DNA, and (ii) a small number of repeats were retained in somatic cells, suggesting that there is incomplete elimination of the repeated elements. These results provide new insights into the mechanisms involved in the chromosome elimination and the evolution of E-chromosomes.

DOI： 10.1038/s41598-022-26007-2

Case of inherited epidermolysis bullosa simplex with KLHL24 gene mutation in Japan. International journal

Tomoko Miyake, Ken Natsuga, Takatsune Umayahara, Seiko Naito, Junko Yoshimoto, Akemi Senoo, Han-Tang Wang, Chao-Kai Hsu, Osamu Yamasaki, Shin Morizane

The Journal of dermatology 49 ( 1 ) e24-e25 2022.1

Head circumference in infants with nonopiate-induced neonatal abstinence syndrome. International journal

Daisaku Morimoto, Yosuke Washio, Kazuki Hatayama, Tomoka Okamura, Hirokazu Watanabe, Junko Yoshimoto, Hirokazu Tsukahara

CNS spectrums 26 ( 5 ) 509 - 512 2021.10

Language：English Publishing type：Research paper (scientific journal)

BACKGROUND: No relationship has been reported between nonopiate neonatal abstinence syndrome (NAS) and anthropometric indices, including head circumference (HC). The purpose of this study was to determine the relationship between maternal nonopioid drug use and HC at birth in neonates with NAS. METHODS: This retrospective observational study included neonates born between January 1, 2010 and March 31, 2019, whose mothers had been taking antipsychotic, antidepressant, sedative, or anticonvulsant medications. The outcome measures were HCs of NAS infants and controls. RESULTS: Of 159 infants, 33 (21%) were diagnosed with NAS. There was no maternal opioid use among mothers during pregnancy. The HCs in the NAS group were significantly smaller than those in the control group. The median z-scores for HC at birth were -0.20 and 0.29 in the NAS group and the control group, respectively (P = .011). The median HCs at birth were 33.0 and 33.5 cm in the NAS group and the control group, respectively. Multivariate analysis revealed that maternal antipsychotic drug use and selective serotonin reuptake inhibitors were independently associated with NAS (P < .001 and P = .004, respectively). Notably, benzodiazepine use and smoking were not independent risk factors. CONCLUSIONS: The results suggest an association between maternal antipsychotic drug use and NAS, which was further associated with decreased HC. Careful monitoring of maternal drug use should be considered to improve fetal outcomes.

DOI： 10.1017/S1092852920001522

A Case of Nager Syndrome Diagnosed Before Birth.

Kei Hayata, Hisashi Masuyama, Eriko Eto, Takashi Mitsui, Shoko Tamada, Takeshi Eguchi, Jota Maki, Kazumasa Tani, Akiko Ohira, Yosuke Washio, Junko Yoshimoto, Kosei Hasegawa

Acta medica Okayama 73 ( 3 ) 273 - 277 2019.6

Language：English

Nager syndrome is a rare disease involving severe micrognathia and upper limb shortening. In this report, we describe a case in which micrognathia of the fetus was suspected based on the observation of upper limb shortening during detailed B mode and 3D/4D ultrasonographic observation, and combined fetal MRI and 3D-CT led to a prenatal diagnosis of Nager syndrome. Upon birth, because severe micrognathia caused airway obstruction and made it difficult to spread the larynx for intubation, effective ventilation could not be carried out and a tracheostomy was necessary. Since a differential diagnosis of Nager syndrome can be made based on the fact that micrognathia typically co-occurs with upper limb shortening, it is possible to diagnose the disease before birth and prepare for life-saving measures accordingly.

DOI： 10.18926/AMO/56872

Exchange Transfusion and Cytarabine for Transient Abnormal Myelopoiesis in Hydrops Fetalis.

Tomoka Okamura, Yousuke Washio, Junko Yoshimoto, Kazumasa Tani, Hirokazu Tsukahara, Akira Shimada

Acta medica Okayama 73 ( 2 ) 181 - 188 2019.4

Language：English

Most cases of transient abnormal myelopoiesis (TAM) in neonates with Down syndrome (DS) resolve spontaneously; however, DS-TAM neonates with hydrops fetalis (HF) show poor clinical outcomes. We report three infants with DS-TAM and HF who were treated with exchange transfusion (ET) followed by low-dose cytarabine (LD-CA). All of them survived without developing liver failure, acute leukemia, or other serious adverse events. Our results suggest that this combination treatment with ET and LD-CA would be safe, tolerable and effective as an novel approach for DS-TAM patients with HF.

DOI： 10.18926/AMO/56655

Population-based longitudinal study showed that children born small for gestational age faced a higher risk of hospitalisation during early childhood. Reviewed International journal

Junko Yoshimoto, Takashi Yorifuji, Yosuke Washio, Tomoka Okamura, Hirokazu Watanabe, Hiroyuki Doi, Hirokazu Tsukahara

Acta paediatrica (Oslo, Norway : 1992) 108 ( 3 ) 473 - 478 2019.3

Authorship：Lead author Language：English Publishing type：Research paper (scientific journal)

AIM: We examined the effects of being born small for gestational age (SGA) on the risk of being hospitalised for common diseases during childhood. METHODS: This Japanese nationwide, population-based longitudinal survey followed babies born before 42 weeks of gestation from 10 to 17 January and from 10 to 17 July 2001, using data from the Government's Longitudinal Survey of Babies in the 21st Century. Our study followed 41 268 children until 5.5 years of age: 39 107 full term (8.7% SGA) and 2161 preterm (15.5% SGA). We evaluated the relationship between SGA status and hospitalisation using their history of hospitalisation for common diseases and comparing full-term or preterm births. Logistic regression analysis, adjusted for potential confounders, estimated the odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: The full-term and preterm children who were born SGA were more likely to be hospitalised during infancy and early childhood than those born non SGA. The ORs for hospitalisation from six months to 18 months of age were 1.23 (95% CI: 1.10-1.37) for full-term and 1.67 (95% CI: 1.23-2.25) for preterm subjects. Higher risks of hospitalisation due to bronchitis, pneumonia, bronchial asthma and diarrhoea were also observed. CONCLUSION: Being born SGA was associated with all-cause and cause-specific hospitalisation in early childhood, particularly for term infants.

DOI： 10.1111/apa.14507

Pregnancy with Anti-MuSK-Positive Myasthenia Gravis That Was Diagnosed During Pregnancy A Case Report

Hisashi Masuyama, Izumi Suzui, Kei Hayata, Yosuke Washio, Junko Yoshimoto, Yuji Hiramatsu

JOURNAL OF REPRODUCTIVE MEDICINE 64 ( 1-2 ) 71 - 73 2019.1

Language：English Publishing type：Research paper (scientific journal) Publisher：SCI PRINTERS & PUBL INC

BACKGROUND: Anti-muscle-specific tyrosine kinase (MuSK)-positive myasthenia gravis (MG) has a late onset in the 4th decade of life and a poor response to medical treatment. Few cases of pregnancy with anti-MuSK-positive MG have been described. We report a case of pregnancy with anti-MuSK-positive MG that was diagnosed during pregnancy.CASE: A 46-year-old healthy primiparous woman was referred to Okayama University Hospital at 23 weeks' gestation because of antiMuSK-positive MG that was diagnosed during pregnancy in the first trimester. Emergent cesarean section was performed at 30 weeks' gestation because of severe preeclampsia and pre-crisis of MG. She received medication and plasmapheresis for hypertension and severe MG symptoms and was discharged on day 35 after delivery. The neonate had no symptoms of transient neonatal MG, and anti-MuSK antibody was positive at birth and then decreased to the normal range at 5 months old.CONCLUSION: Our case and previous reports indicate that pregnancy with anti-MuSK-positive MG might have the same or a relatively higher risk for the mother and neonate as compared with anti-AChR-positive MG. Multidisciplinary management throughout the perinatal period should be provided for pregnancy with anti-MuSK-positive MG.

Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. International journal

Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara

JIMD reports 37 99 - 106 2017

Language：English Publishing type：Research paper (scientific journal)

Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed. This report describes a neonate with symptoms of erythropoietic harderoporphyria (photosensitivity of the skin, hemolytic anemia, and jaundice). However, the pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. We found a heterozygous, novel, four-base pair deletion in exon 7 of the CPOX gene, although other mutations including the p.Lys404Glu mutation in CPOX were not found. By unknown etiology, our patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Based on genetic mutation of the CPOX gene and information from a previous similar case report, we consider that neonatal-onset HCP is a variant of HCP.

DOI： 10.1007/8904_2017_20

出生後早期に気道確保を必要とした上顎体、舌奇形腫、舌裂を合併した唇顎口蓋裂の一例

江口武志, 牧尉太, 谷和祐, 岡本和浩, 玉田祥子, 光井崇, 衛藤英理子, 早田桂, 増山寿, 鷲尾洋介, 吉本順子, 飯田征二, 平松祐司

現代産婦人科 65 ( Suppl. ) S46 - S46 2016.9

体重差が少ないMD双胎の管理と母体・新生児予後の検討

江口武志, 柏原麻子, 牧尉太, 玉田祥子, 光井崇, 平野友美加, 衛藤英理子, 早田桂, 増山寿, 平松祐司, 鷲尾洋介, 吉本順子

日本周産期・新生児医学会雑誌 52 ( 2 ) 750 - 750 2016.6

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