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Article ; Online: Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research.

Sakai, Yasunari / Okuzono, Sayaka / Schaaf, Christian P / Ohga, Shouichi

2021 Volume 92, Issue 2, Page(s) 373–377

Abstract: Phelan-McDermid syndrome (PMS) is a rare genetic disorder presenting with developmental delay, epilepsy, and autism spectrum disorder (ASD). The segmental deletion of chromosome 22q13.3 affects the copy number of SHANK3, the gene encoding a scaffolding ... ...

Abstract	Phelan-McDermid syndrome (PMS) is a rare genetic disorder presenting with developmental delay, epilepsy, and autism spectrum disorder (ASD). The segmental deletion of chromosome 22q13.3 affects the copy number of SHANK3, the gene encoding a scaffolding protein at the postsynaptic density. Biological studies indicate that SHANK3 plays crucial roles in the development of synaptic functions in the postnatal brain. Notably, induced pluripotent stem (iPS) cells have enabled researchers to develop brain organoids and microglia from patients and to explore the pathophysiology of neurodevelopmental disorders in human cells. Single-cell RNA sequencing of these cells revealed that human-specific genes are uniquely expressed during cortical development. Thus, patient-derived disease models are expected to identify as-yet-unidentified functions of SHANK3 in the development of human brain. These efforts may help establish a new style of translational research in pediatrics, which is expected to provide therapeutic insight for children with PMS and broader categories of disease. IMPACT: Phelan-McDermid syndrome is a prototypic model for molecular studies of autism spectrum disorder. Brain organoids are expected to provide therapeutic insight. Single-cell RNA sequencing of microglia may uncover the functional roles of human-specific genes.
MeSH term(s)	Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/therapy ; Autistic Disorder/genetics ; Autistic Disorder/therapy ; Child ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 22/genetics ; Humans ; Nerve Tissue Proteins/genetics ; Pediatrics
Chemical Substances	Nerve Tissue Proteins
Language	English
Publishing date	2021-10-26
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	4411-8
ISSN	1530-0447 ; 0031-3998
ISSN (online)	1530-0447
ISSN	0031-3998
DOI	10.1038/s41390-021-01806-x
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Zs.A 564: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Shank3a/b isoforms regulate the susceptibility to seizures and thalamocortical development in the early postnatal period of mice.

Okuzono, Sayaka / Fujii, Fumihiko / Matsushita, Yuki / Setoyama, Daiki / Shinmyo, Yohei / Taira, Ryoji / Yonemoto, Kousuke / Akamine, Satoshi / Motomura, Yoshitomo / Sanefuji, Masafumi / Sakurai, Takeshi / Kawasaki, Hiroshi / Han, Kihoon / Kato, Takahiro A / Torisu, Hiroyuki / Kang, Dongchon / Nakabeppu, Yusaku / Sakai, Yasunari / Ohga, Shouichi

Neuroscience research

2023 Volume 193, Page(s) 13–19

Abstract: Epileptic seizures are distinct but frequent comorbidities in children with autism spectrum disorder (ASD). The hyperexcitability of cortical and subcortical neurons appears to be involved in both phenotypes. However, little information is available ... ...

Abstract	Epileptic seizures are distinct but frequent comorbidities in children with autism spectrum disorder (ASD). The hyperexcitability of cortical and subcortical neurons appears to be involved in both phenotypes. However, little information is available concerning which genes are involved and how they regulate the excitability of the thalamocortical network. In this study, we investigate whether an ASD-associated gene, SH3 and multiple ankyrin repeat domains 3 (Shank3), plays a unique role in the postnatal development of thalamocortical neurons. We herein report that Shank3a/b, the splicing isoforms of mouse Shank3, were uniquely expressed in the thalamic nuclei, peaking from two to four weeks after birth. Shank3a/b-knockout mice showed lower parvalbumin signals in the thalamic nuclei. Consistently, Shank3a/b-knockout mice were more susceptible to generalized seizures than wild-type mice after kainic acid treatments. Together, these data indicate that NT-Ank domain of Shank3a/b regulates molecular pathways that protect thalamocortical neurons from hyperexcitability during the early postnatal period of mice.
MeSH term(s)	Mice ; Animals ; Autism Spectrum Disorder ; Seizures ; Thalamic Nuclei ; Mice, Knockout ; Protein Isoforms/genetics ; Microfilament Proteins/metabolism ; Nerve Tissue Proteins/metabolism
Chemical Substances	Protein Isoforms ; Shank3 protein, mouse ; Microfilament Proteins ; Nerve Tissue Proteins
Language	English
Publishing date	2023-03-05
Publishing country	Ireland
Document type	Journal Article
ZDB-ID	605842-5
ISSN	1872-8111 ; 0168-0102 ; 0921-8696
ISSN (online)	1872-8111
ISSN	0168-0102 ; 0921-8696
DOI	10.1016/j.neures.2023.03.001
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Article ; Online: Heterogeneity and mitochondrial vulnerability configurate the divergent immunoreactivity of human induced microglia-like cells.

Clinical immunology (Orlando, Fla.)

2023 Volume 255, Page(s) 109756

Abstract: Microglia play versatile roles in progression of and protection against neuroinflammatory diseases. Little is known, however, about the mechanisms underlying the diverse reactivity of microglia to inflammatory conditions. We investigated how human ... ...

Abstract	Microglia play versatile roles in progression of and protection against neuroinflammatory diseases. Little is known, however, about the mechanisms underlying the diverse reactivity of microglia to inflammatory conditions. We investigated how human induced microglia-like (iMG) cells respond to innate immune ligands. Quantitative PCR showed that poly-I:C and lipopolysaccharide (LPS) activated the expression of IL1B and TNF. Immunoreactivity of iMG did not differ between controls (n = 11) and patients with neuroinflammatory diseases (n = 24). Flow cytometry revealed that CD14
MeSH term(s)	Humans ; Microglia/metabolism ; Neuroinflammatory Diseases ; Lipopolysaccharides/pharmacology ; Flow Cytometry ; Gene Expression
Chemical Substances	Lipopolysaccharides
Language	English
Publishing date	2023-09-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2023.109756
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Article ; Online: Vitamin A deficiency-associated corneal perforation in a boy with autism spectrum disorder: A case report and literature review.

Adachi, Shunichi / Torio, Michiko / Okuzono, Sayaka / Motomura, Yoshitomo / Ichimiya, Yuko / Sonoda, Yuri / Nagata, Jyunya / Okamoto, Misato / Notomi, Shoji / Sanefuji, Masafumi / Sakai, Yasunari / Ohga, Shouichi

Nutrition (Burbank, Los Angeles County, Calif.)

2021 Volume 90, Page(s) 111275

Abstract: Background: Malnutrition and vitamin deficiency are growing concerns in the clinical management of children with autism spectrum disorder (ASD). This case report presents a boy with ASD who developed vitamin A deficiency during follow-up.: Case report! ...

Abstract	Background: Malnutrition and vitamin deficiency are growing concerns in the clinical management of children with autism spectrum disorder (ASD). This case report presents a boy with ASD who developed vitamin A deficiency during follow-up. Case report: A 7-y-old boy had been diagnosed with ASD and developmental delay at age 18 mo. He developed convulsions associated with hypocalcemia and vitamin D deficiency at 3 y of age. Although vitamin D supplementation was continued, he was only able to eat rice, green tea, and fried potatoes from 3 y of age to age 7 y. He had started rubbing his eyes and had refused to open his eyes 9 mo before. An ophthalmologic examination showed bilateral corneal ulcers and right corneal perforation. Vitamin A was immediately supplemented with a nasogastric tube; however, his right eye was surgically enucleated against the persistent infection. Literature review: A search of the relevant literature from 1993 to 2020 identified 11 cases of patients with ASD (5-17 y of age) who developed vitamin A deficiency owing to malnutrition. Only 4 cases (36%) had a full recovery in visual acuity. Conclusion: Vitamin A deficiency frequently causes irreversible visual impairment in children with ASD. Vigilant monitoring of vitamin levels prevents unfavorable outcomes in children with ASD and difficulty in food intake.
MeSH term(s)	Autism Spectrum Disorder/complications ; Child ; Corneal Perforation ; Dietary Supplements ; Humans ; Male ; Vitamin A Deficiency/complications ; Vitamin D Deficiency
Language	English
Publishing date	2021-04-20
Publishing country	United States
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	639259-3
ISSN	1873-1244 ; 0899-9007
ISSN (online)	1873-1244
ISSN	0899-9007
DOI	10.1016/j.nut.2021.111275
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Article: Vitamin A deficiency–associated corneal perforation in a boy with autism spectrum disorder: A case report and literature review

Nutrition. 2021 Oct., v. 90

2021

Abstract: Malnutrition and vitamin deficiency are growing concerns in the clinical management of children with autism spectrum disorder (ASD). This case report presents a boy with ASD who developed vitamin A deficiency during follow-up.A 7-y-old boy had been ... ...

Abstract	Malnutrition and vitamin deficiency are growing concerns in the clinical management of children with autism spectrum disorder (ASD). This case report presents a boy with ASD who developed vitamin A deficiency during follow-up.A 7-y-old boy had been diagnosed with ASD and developmental delay at age 18 mo. He developed convulsions associated with hypocalcemia and vitamin D deficiency at 3 y of age. Although vitamin D supplementation was continued, he was only able to eat rice, green tea, and fried potatoes from 3 y of age to age 7 y. He had started rubbing his eyes and had refused to open his eyes 9 mo before. An ophthalmologic examination showed bilateral corneal ulcers and right corneal perforation. Vitamin A was immediately supplemented with a nasogastric tube; however, his right eye was surgically enucleated against the persistent infection.A search of the relevant literature from 1993 to 2020 identified 11 cases of patients with ASD (5–17 y of age) who developed vitamin A deficiency owing to malnutrition. Only 4 cases (36%) had a full recovery in visual acuity.Vitamin A deficiency frequently causes irreversible visual impairment in children with ASD. Vigilant monitoring of vitamin levels prevents unfavorable outcomes in children with ASD and difficulty in food intake.
Keywords	autism ; boys ; case studies ; cornea ; food intake ; green tea ; hypocalcemia ; malnutrition ; rice ; vision disorders ; vitamin A ; vitamin A deficiency
Language	English
Dates of publication	2021-10
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	639259-3
ISSN	1873-1244 ; 0899-9007
ISSN (online)	1873-1244
ISSN	0899-9007
DOI	10.1016/j.nut.2021.111275
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Article ; Online: GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

2020 Volume 34, Issue 12, Page(s) 16601–16621

Abstract: Developmental and epileptic encephalopathy (DEE) represents a group of neurodevelopmental disorders characterized by infantile-onset intractable seizures and unfavorable prognosis of psychomotor development. To date, hundreds of genes have been linked to ...

Abstract	Developmental and epileptic encephalopathy (DEE) represents a group of neurodevelopmental disorders characterized by infantile-onset intractable seizures and unfavorable prognosis of psychomotor development. To date, hundreds of genes have been linked to the onset of DEE. GNAO1 is a DEE-associated gene encoding the alpha-O1 subunit of guanine nucleotide-binding protein (Gα
MeSH term(s)	Animals ; Brain/metabolism ; Brain Diseases/metabolism ; Cells, Cultured ; Cytoskeleton/metabolism ; GTP-Binding Protein alpha Subunits, Gi-Go/metabolism ; Humans ; Mice ; Mice, Inbred C57BL ; Neurodevelopmental Disorders/metabolism ; Neurons/metabolism ; Phenotype
Chemical Substances	GNAO1 protein, human ; GNAO1 protein, mouse (EC 3.6.5.1) ; GTP-Binding Protein alpha Subunits, Gi-Go (EC 3.6.5.1)
Language	English
Publishing date	2020-10-27
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639186-2
ISSN	1530-6860 ; 0892-6638
ISSN (online)	1530-6860
ISSN	0892-6638
DOI	10.1096/fj.202001113R
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Zs.A 2266: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Streptococcus pyogenes-purpura fulminans as an invasive form of group A streptococcal infection.

Okuzono, Sayaka / Ishimura, Masataka / Kanno, Shunsuke / Sonoda, Motoshi / Kaku, Noriyuki / Motomura, Yoshitomo / Nishio, Hisanori / Oba, Utako / Hanada, Masuo / Fukushi, Jun-Ichi / Urata, Michiyo / Kang, Dongchon / Takada, Hidetoshi / Ohga, Shouichi

Annals of clinical microbiology and antimicrobials

2018 Volume 17, Issue 1, Page(s) 31

Abstract: Background: Streptococcus pyogenes is an uncommon pathogen of purpura fulminans, and the pathogenesis of S. pyogenes-purpura fulminans remains unclear because of paucity of cases. We reported a pediatric case of S. pyogenes-purpura fulminans with ... ...

Abstract	Background: Streptococcus pyogenes is an uncommon pathogen of purpura fulminans, and the pathogenesis of S. pyogenes-purpura fulminans remains unclear because of paucity of cases. We reported a pediatric case of S. pyogenes-purpura fulminans with literature review of the disease. Case presentation: A 3-year-old boy showed limping, lethargy and acral gangrene within 24 h. A diagnosis of S. pyogenes-purpura fulminans was made for bacterial isolation from throat and peripheral blood. Intensive therapy led to a survival with amputation of the left distal metatarsal bone, and normal development. The isolated M12 carried no mutation of csrS/R or rgg. Thrombophilia or immunodeficiency was excluded. Discussion: Twelve-reported cases (9 pediatric and 3 elderly) of S. pyogenes-purpura fulminans started with shock and coagulopathy. Five patients age < 8 years had no underlying disease and survived. One youngest and two immunocompromised patients died. Conclusion: Streptococcus pyogenes-acute infectious purpura fulminans is a distinctive rare form of aggressive GAS infections.
MeSH term(s)	Aged ; Anti-Bacterial Agents/therapeutic use ; Child ; Child, Preschool ; Fatal Outcome ; Female ; Humans ; Infant ; Male ; Middle Aged ; Purpura Fulminans/pathology ; Purpura Fulminans/therapy ; Streptococcal Infections/drug therapy ; Streptococcal Infections/pathology ; Streptococcus pyogenes/drug effects ; Streptococcus pyogenes/pathogenicity ; Treatment Outcome
Chemical Substances	Anti-Bacterial Agents
Language	English
Publishing date	2018-07-09
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2097873-X
ISSN	1476-0711 ; 1476-0711
ISSN (online)	1476-0711
ISSN	1476-0711
DOI	10.1186/s12941-018-0282-9
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Article ; Online: An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.

Okuzono, Sayaka / Fukai, Ryoko / Noda, Marie / Miyake, Noriko / Lee, Sooyoung / Kaku, Noriyuki / Sanefuji, Masafumi / Akamine, Satoshi / Kanno, Shunsuke / Ishizaki, Yoshito / Torisu, Hiroyuki / Kira, Ryutaro / Matsumoto, Naomichi / Sakai, Yasunari / Ohga, Shouichi

Brain & development

2018 Volume 41, Issue 4, Page(s) 378–381

Abstract: Background: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes ... ...

Abstract	Background: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood. Case report: A 3-year-old boy with dysmorphic features and mild psychomotor delay developed acute encephalopathy. After a 45-min long, generalized seizure, the magnetic resonance imaging revealed that the restricted diffusion signals spread to the bilateral subcortical white matters on day 1 of illness. Despite the 14 days of intensive care, the acute symptoms of encephalopathy left him intractable epilepsy and severe neurocognitive impairments. The whole-exome sequencing analysis identified a de novo heterozygous mutation of BRAF (NM_004333:p.Thr241Met) in this case. Conclusion: The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood.
MeSH term(s)	Abnormalities, Multiple/genetics ; Brain Diseases/complications ; Brain Diseases/etiology ; Brain Diseases/genetics ; Child ; Drug Resistant Epilepsy/complications ; Ectodermal Dysplasia/complications ; Ectodermal Dysplasia/physiopathology ; Facies ; Failure to Thrive/complications ; Failure to Thrive/physiopathology ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/physiopathology ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Mutation ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins B-raf/physiology
Chemical Substances	BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
Language	English
Publishing date	2018-11-07
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	604822-5
ISSN	1872-7131 ; 0387-7604
ISSN (online)	1872-7131
ISSN	0387-7604
DOI	10.1016/j.braindev.2018.10.012
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