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991.
Ikumi Hori Daisuke Ieda Shogo Ito Seimi Ebe Yuji Nakamura Kei Ohashi Kohei Aoyama Ayako Hattori Minoru Kokubo Shinji Saitoh 《Brain & development》2021,43(4):590-595
IntroductionAminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants in the AIMP1 gene have been associated with hypomyelinating leukodystrophy-3 (HLD3; MIM 260600), which is characterized by hypomyelination, microcephaly, seizures and decreased life expectancy. Although peripheral nerve involvement has been assumed for HLD3, no compelling evidence is available to date.Case reportThe case was a first-born Filipino male. He showed profound developmental delay, failure to thrive, and spasticity in his limbs. At three months of age he developed refractory epilepsy. Serial magnetic resonance imaging (MRIs) showed profound myelination delay and progressive cerebral atrophy. He showed abnormal nerve conduction studies. Genetic testing revealed a homozygous pathogenic variant in the AIMP1 gene (NM_004757.3: c.115C > T: p.Gln39*). The parents were heterozygous for the same variant.ConclusionHere, we report a patient with a homozygous nonsense AIMP1 variant showing peripheral neuropathy as well as HLD3. Our case suggests that AIMP1 plays a pivotal role in the peripheral nerve as well as the central nervous system. 相似文献
992.
Shohei Nomura Mitsuru Kashiwagi Takuya Tanabe Chizu Oba Kumiko Yanagi Tadashi Kaname Nobuhiko Okamoto Akira Ashida 《Brain & development》2021,43(4):566-570
BackgroundRapid-onset dystonia–parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms.Case reportWe describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She presented with an abrupt onset of upper limb dystonia and bradykinesia without tremor in parkinsonism, as well as dysarthria and dysphagia caused by prominent bulbar symptoms, at age 9. She had normal findings on brain magnetic resonance imaging, electroencephalography, and blood examination but was diagnosed with a psychogenic disorder. At age 10, she developed left lower limb paroxysmal stiffness with pain, and at 14, she was hospitalized due to lasting paroxysmal symptoms. Whole-exome sequencing was performed for this index case and her parents, and a de novo missense variant c.829G > A, p.Glu277Lys in ATP1A3 was identified.DiscussionThis RDP case highlights a rare clinical feature of paroxysmal dystonia that affects the lower left limb and develops after the abrupt onset of permanent dystonia. Currently, there are only three reported RDP cases associated with the same missense mutation, and we summarized the clinical features of all cases including ours, such as onset of age, time for stable, RDP score, relapse and exacerbation. Various symptoms owing to ATP1A3 mutation could develop as ATP1A3-related neurological disorders beyond classical phenotypes such as alternating hemiplegia of childhood (AHC) or RDP. Although RDP is extremely rare during childhood, it is important to understand its clinical characteristics in children. 相似文献
993.
Yoko Takahashi Masaya Kubota Rika Kosaki Kenjiro Kosaki Akira Ishiguro 《Brain & development》2021,43(3):464-469
Spinocerebellar ataxia, autosomal recessive 2 (SCAR2) [MIM:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Recently, several PMPCA gene variants have been reported in SCAR2 patients with mild and non-progressive symptoms. PMPCA codes frataxin, which is crucial for iron biosynthesis in cells. We report a case of a 15-year-old Japanese girl with infancy-onset, very severe and progressive developmental delay, cerebellar ataxia, and extrapyramidal symptoms. Brain magnetic resonance imaging showed cerebellar atrophy and excessive brain iron accumulation in the bilateral globus pallidi and substantia nigra. Based on the clinical phenotypes and imaging, neurodegeneration with brain iron accumulation was suspected. Whole-exome sequencing on the proband and her parents revealed novel compound heterozygous variants at c.667C > T (p.Arg223Cys) and c.853del (p.Asp285llefs*16) in PMPCA. Thus, her disease was diagnosed as SCAR2. Phenotype in our case was different from ones previously reported for SCARs in the points of much severer clinical presentations with extrapyramidal signs and imaging suspected iron accumulation, and might overlap neurodegeneration with brain iron accumulation or NBIA subtypes. Our case might provide a new insight into PMPCA gene-related disorders and expand the disease concept. 相似文献
994.
Masatoshi Katagiri Hiroyuki Ito Yasuo Murayama Megumi Hamada Syunji Nakajima Nobuya Takayanagi Ai Uemiya Mitsunori Myogan Akio Nakai Masatsugu Tsujii 《Brain & development》2021,43(5):605-615
BackgroundDifficulties in fine and gross motor skills are often overlooked as developmental problems, although approximately 6–13% of all school-age children have poor motor coordination. Understanding motor coordination is important from the perspective of school adaptation. This longitudinal cohort study aimed to determine whether fine and gross motor skills in preschool children predict later academic achievement and psychosocial maladaptation.Methods & ProceduresParticipants were 2,501 children from nursery and elementary schools (5–13 years old). The motor skills of preschool children were assessed by their nursery teacher immediately before entering elementary school. The Strengths and Difficulties Questionnaire and a standardized Japanese test were administered annually throughout elementary school.ResultsEarly motor difficulties in preschool children had significant effects on their academic achievement and psychosocial maladaptation up until the sixth grade. Gross motor difficulties in preschool were associated with the later peer problems and worsened emotional symptoms.ConclusionsMotor skills in preschool children are useful as a predictor of later psychosocial maladaptation and academic achievement. 相似文献
995.
Hirokazu Oguni Susumu Ito Aiko Nishikawa Yui Otani Satoru Nagata 《Brain & development》2021,43(7):775-782
AimTo elucidate the morphological characteristics of spike-wave complexes (SWCs) causing myoclonic seizures (MS) in childhood-onset idiopathic myoclonic epilepsies.Subjects and MethodsThe subjects were 8 patients, including 4 with epilepsy with myoclonic-atonic seizures (EMAS), 3 with myoclonic epilepsy in infancy (MEI) and 1 with idiopathic unclassifiable myoclonic epilepsy. Morphometric parameters of the SWCs were compared between those with MS [SWC-MS (+)] and those without MS [SWC-MS (-)], and a correlation coefficient analysis was performed between the SWC parameters and the duration of myoclonic electromyogram (EMG) potentials.ResultsA total of 155 SWC-MS (+) (range: 7 ~ 34) and 80 SWC-MS (-) (10 each as a control) were analyzed. Comparison of the parameters of the SWCs between SWC-MS (+) and SWC-MS (-) demonstrated that the depth and the width of the positive-sharp-components (PSC) in the SWC-MS (+) were significantly deeper in amplitude and longer in duration than those in the SWC-MS (-), respectively, in all 8 patients (P < 0.05), whereas the number of the polyphasic-multiple-spike-components (PMSC) and the height of negative-spike-components (NSC) were not significantly different in most of the patients, respectively. The depth and the width of PSC were also significantly correlated with the duration of myoclonic EMG potentials in all patients except one [depth of PSC (n = 7): r = 0.623 ~ 0.888; width of PSC (n = 8): r = 0.676 ~ 0.948, P < 0.05].ConclusionsThis study revealed that the depth and width of PSC of the SWC are positively correlated with the MS intensity in childhood-onset idiopathic myoclonic epilepsies and are an important neurophysiological marker to generate MS. 相似文献
996.
Akira Endo Hirotaka Koizumi Makiko Takahashi Tomohiro Tamura Shinobu Tatsunami Yoshiyuki Watanabe Masayuki Takagi 《Virchows Archiv : an international journal of pathology》2013,462(2):131-139
Sessile serrated adenoma/polyps (SSA/Ps) of the colon are thought to be precursors of sporadic carcinomas. Although it is suggested that SSA/P may grow rapidly from the early stage, its cell kinetics remains obscure. To solve this problem, we analyzed the mitotic and apoptotic activity of normal crypts, microvesicular hyperplastic polyps (MVHPs), and tubular adenomas (TAs), using phospho-histone H3 and cleaved caspase 3 immunohistochemistry. The mitotic index for SSA/Ps (mean, 5.63) and TAs (6.98) was significantly higher than those for normal crypts (2.72) and MVHPs (2.86). Of all tested lesions, the apoptotic index was lowest for SSA/Ps (0.96; normal, 2.71; MVHPs, 2.62; TAs, 6.01) with statistically significant differences. The net growth ratio was close to 1.0 in normal crypts (1.07) while remaining low in MVHPs (1.06) and TAs (1.38), but was markedly elevated in SSA/Ps (7.32, P?<?0.01) due to the large imbalance between mitosis and apoptosis. As to apoptosis regulatory proteins, expression of anti-apoptotic Bcl-2 was significantly reduced or undetectable in MVHPs and SSA/Ps, while TAs showed stronger staining than normal crypts. Expression of pro-apoptotic Bax and its activators, Bim and Bad, was significantly reduced in MVHPs and SSA/Ps. We suggest that other complex mechanisms may act synergistically with Bax, Bim, or Bad deficiency to regulate apoptosis suppression in SSA/Ps. 相似文献
997.
Akira Uchino Naoko Saito Hiroki Kurita Shoichiro Ishihara 《Surgical and radiologic anatomy : SRA》2013,35(2):173-175
Rarely, the ophthalmic artery (OA) arises from the cavernous segment of the internal carotid artery (ICA) inferolaterally and enters into the orbit via the superior orbital fissure. This anomalous OA that originates from the inferolateral trunk is regarded as a persistent dorsal OA. Extremely rarely, both normal OA and persistent dorsal OA arise from the ICA. We report the first case of such double OAs, one of which arose from the cavernous segment of the ICA superolaterally and we believe that it originated from the meningohypophyseal trunk rather than the inferolateral trunk. 相似文献
998.
Satoshi Tsutsumi Masanobu Nakamura Takashi Tabuchi Yukimasa Yasumoto Masanori Ito 《Surgical and radiologic anatomy : SRA》2013,35(5):377-383
Objective
To investigate anatomic features of the inferior oblique nerve (IObN) by high-resolution magnetic resonance (MR) imaging and cadaveric dissection.Methods
This study enrolled 100 consecutive outpatients, who underwent 3.0 T MR imaging equipped by the 32-channel head coil. The T2-weighted imaging data of IObN were extracted for analysis and compared with the findings of microsurgical dissection in 14 orbits.Results
50 male and 50 female subjects allotted to the imaging study were aged from 11 to 78 years. In 94 % sides, the IObN was found to separate from the inferior rectus muscle (IRM) at the level just behind to the posterior pole of the bulb. At the midpoint of the IObN part coursing along the orbital floor and above or adjacent to the infraorbital nerve and artery complex, the mean distance from the lateral margin of the IRM was 1.0 mm on the right and 0.9 mm on the left. The IObN showed upward direction change just below the belly of the inferior oblique muscle and innervated to it at the equator level in 78 sides on the right and 89 on the left. Dissected specimens revealed the consistent morphological findings of the IObN.Conclusions
The IObN seems to be a relatively consistent structure. Anatomic information on the IObN and surrounding structures that are provided by high-resolution MR imaging can be a help for safe surgery. 相似文献999.
1000.
Anri Sawada Masayoshi Okumi Shigeru Horita Tomomi Tamura Sekiko Taneda Hideki Ishida Motoshi Hattori Kazunari Tanabe Kosaku Nitta Kazuho Honda Junki Koike Yoji Nagashima Akira Shimizu 《Pathology international》2021,71(6):406-414
Monoclonal tubular basement membrane immune deposits (TBMID) are associated with progression of interstitial injury in renal allograft. However, the significance of monoclonal and polyclonal TBMID in the native kidney remains unclear. We retrospectively analyzed 1894 native kidney biopsies and 1724 zero-hour biopsies performed between 2008 and 2018 in our institution. The rate of immunoglobulin G (IgG) TBMID was found to be 8.4% among native kidney biopsies and 0.4% among zero-hour biopsies. Polyclonal TBMID is common in IgG4-related tubulointerstitial nephritis (37.5%), diabetic nephropathy (31.3%) and lupus nephritis (25.5%). Monoclonal IgG TBMID was identified in seven cases, including three zero-hour biopsies. The combination of IgG1κ was observed in two cases, IgG1λ in three, and IgG2κ in two. Electron microscopy revealed powdery electron-dense deposits in all cases. Monoclonal gammopathy of undetermined significance was diagnosed in one case. Although one patient with focal segmental glomerulosclerosis developed renal failure, all others exhibited stable renal function. Monoclonal IgG TBMID in the native kidney is not associated with renal prognosis. However, this may be an interesting immunopathological finding that would help clarify the pathogenesis of TBM immune deposits. Further study for both monoclonal and polyclonal TBMID is required in the future. 相似文献