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  1. Sun Q, Wang K, Yoshimura A, Doi K
    Theor. Appl. Genet., 2002 Jun;104(8):1335-1345.
    PMID: 12582589
    The genetic differentiation of nuclear, mitochondrial (mt) and chloroplast (cp) genomes was investigated by Southern and PCR analysis using 75 varieties of cultivated rice ( Oryza sativa L.) and 118 strains of common wild rice (CWR, Oryza rufipogon Griff.) from ten countries of Asia. The distinguishing differences between the Indica and Japonica cultivars were detected both in the nuclear genome and the cytoplasmic genome, confirming that the Indica-Japonica differentiation is of major importance for the three different classes of genome in cultivated rice. This differentiation was also detected in common wild rice with some differences among the genome compartments and the various regions. For nuclear DNA variation, both Indica-like and Japonica-like types were observed in the Chinese CWR, with the latter more-frequent than the former. No Japonica-like type was found in South Asia, and only two strains of the Japonica-like type were detected in Southeast Asia, thus the Indica-like type is the major type among South and Southeast Asian CWR. For mtDNA, only a few strains of the Japonica-like type were detected in CWR. For cpDNA, the Japonica type was predominant among the CWR strains from China, Bangladesh and Burma, while the Indica type was predominant among the CWR strains from Thailand, Malaysia, Cambodia and Sri Lanka, and both types were found in similar frequencies among the Indian CWR. Altogether, however, the degree of Indica-Japonica differentiation in common wild rice was much-less important than that in cultivated rice. Cluster analyses for nuclear and mitochondrial DNA variation revealed that some CWR strains showed large genetic distances from cultivated rice and formed clusters distinct from cultivated rice. Coincidence in the genetic differentiation between the three different classes of genome was much higher in cultivated rice than in CWR. Among the 75 cultivars, about 3/4 entries were "homoeotype" showing congruent results for nuclear, mt and cpDNA regarding the Indica-Japonica differentiation. In CWR, the proportions of homoeotypes were 5.7%, 15% and 48.8% in China, South Asia and Southeast Asia, respectively. Based on the average genetic distance among all the strains of CWR and cultivated rice for nuclear and mitochondrial genomes, the variability of the nuclear genome was found to be higher than that of the mitochondrial genome. The global pattern based on all genomes shows much-more diversification in CWR than that in cultivated rice.
  2. Doi K, Sem SH, Hattori Y, Sakamoto S, Hayashi K, Maruyama A
    JBJS Case Connect, 2019 Dec;9(4):e0073.
    PMID: 31850914 DOI: 10.2106/JBJS.CC.19.00073
    CASE: A 7-year-old boy presented with left femoral and obturator nerves (ONs) palsy after an asthmatic attack with a viral prodrome, and his right lower limb was unaffected. He was diagnosed with acute flaccid myelitis (AFM) after positive spinal magnetic resonance imaging findings. After contralateral ON to femoral nerve transfer (CONFNT), his left quadriceps was reinnervated at 5.5 months, full knee extension was recovered at 14 months, and good functional outcomes were achieved at 31 months.

    CONCLUSIONS: This first clinical report on CONFNT demonstrated a feasible good alternative in treating young patients with AFM with unilateral L2-L4 palsy and short duration of deficit.

  3. Doi K, Sem SH, Hattori Y, Sakamoto S, Hayashi K, De la Red-Gallego MA
    JB JS Open Access, 2019 10 24;4(4):e0030.
    PMID: 32043059 DOI: 10.2106/JBJS.OA.19.00030
    Acute flaccid myelitis (AFM) is a debilitating illness that is defined by the sudden onset of flaccid paralysis in the extremities with spinal magnetic resonance imaging (MRI) demonstrating a longitudinal lesion confined to the gray matter. The purpose of this study was to report the types of upper-extremity palsy and outcomes of surgical reconstruction in patients with AFM.

    Methods: Eight patients with a median age at onset of 3.8 years (range, 2.3 to 9.9 years) were identified. There was loss of shoulder abduction and external rotation in all patients, loss of elbow flexion in 5 patients, complete or partial loss of hand function in 3 patients, and spinal accessory nerve palsy in 2 patients. All patients underwent surgical reconstruction, which was categorized into 3 main groups: nerve transfer, secondary muscle transfer, and free muscle transfer.

    Results: The median follow-up period was 39 months (range, 30 to 94 months). Four patients obtained ≥90° of shoulder abduction whereas the other 4 patients had shoulder abduction of ≤70°. The 5 patients who received free muscle transfer or nerve transfer to restore elbow function obtained ≥140° of elbow flexion. Two patients treated with free muscle transfer to restore finger function obtained satisfactory total active motion of the fingers (180°).

    Conclusions: The patterns of paralysis and the strategy and outcomes of surgical reconstruction for patients with AFM differed from those for traumatic and obstetric brachial plexus palsy. All patients had loss of shoulder abduction, and 2 had spinal accessory nerve palsy. Restoration of shoulder function was unpredictable and depended on the quality of the donor nerves and recovery of synergistic muscles. Restoration of elbow and hand function was more consistent and satisfactory.

    Level of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete list of levels of evidence.

  4. Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, et al.
    Nat. Genet., 2019 08;51(8):1222-1232.
    PMID: 31332380 DOI: 10.1038/s41588-019-0458-z
    Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in FMR1, we directly searched for repeat expansion mutations and identified noncoding CGG repeat expansions in NBPF19 (NOTCH2NLC) as the causative mutations for NIID. Further prompted by the similarities in the clinical and neuroimaging findings with NIID, we identified similar noncoding CGG repeat expansions in two other diseases: oculopharyngeal myopathy with leukoencephalopathy and oculopharyngodistal myopathy, in LOC642361/NUTM2B-AS1 and LRP12, respectively. These findings expand our knowledge of the clinical spectra of diseases caused by expansions of the same repeat motif, and further highlight how directly searching for expanded repeats can help identify mutations underlying diseases.
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