A study on the effectiveness of training in the operation of an electric mobility aid in severely mentally and physically handicapped children.

Unlabelled: Hideshima Y, Asami T, Ichiba M, Matsuo K, Murata T. A study on the effectiveness of training in the operation of an electric mobility aid in severely mentally and physically handicapped children. Jpn J Compr Rehabil Sci 2024; 15: 8-16.

Predictors of recurrent febrile seizures during the same febrile illness in children with febrile seizures.

Febrile seizures (FS) are common in childhood. Of children who experience an FS, 14-24% experience recurrence within 24 h, during the same febrile illness (RFS). The aim of this pilot study was to identify the predictors of RFS among children who experience FS.

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.

The brains of 10 Japanese patients with adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) encompassing hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD) and eight Japanese patients with Nasu-Hakola disease (N-HD) and five age-matched Japanese controls were examined neuropathologically with special reference to lesion staging and dynamic changes of microglial subsets. In both diseases, the pathognomonic neuropathological features included spherically swollen axons (spheroids and globules), axon loss and changes of microglia in the white matter. In ALSP, four lesion stages based on the degree of axon loss were discernible: Stage I, patchy axon loss in the cerebral white matter without atrophy; Stage II, large patchy areas of axon loss with slight atrophy of the cerebral white matter and slight dilatation of the lateral ventricles; Stage III, extensive axon loss in the cerebral white matter and dilatation of the lateral and third ventricles without remarkable axon loss in the brainstem and cerebellum; Stage IV, devastated cerebral white matter with marked dilatation of the ventricles and axon loss in the brainstem and/or cerebellum.

Oriented collagen tubes combined with basic fibroblast growth factor promote peripheral nerve regeneration in a 15 mm sciatic nerve defect rat model.

We developed a new scaffold material-oriented collagen tubes (OCT)-and evaluated the potential of OCTs combined with basic fibroblast growth factor (bFGF) to repair of a 15 mm sciatic nerve defect in rats. The treatment groups consisted of OCT with adsorbed bFGF (OCT/bFGF group), OCT in phosphate-buffered saline (PBS) (OCT/PBS group), and a no-treatment group (Defect group). Functional evaluation of nerve regeneration was performed using the CatWalk system, and histological analyses of the defect sites were also performed.

[Thalamus and Attention].

Attention is the process by which information and selection occurs, the thalamus plays an important role in the selective attention of visual and auditory information. Selective attention is a conscious effort; however, it occurs subconsciously, as well. The lateral geniculate body (LGB) filters visual information before it reaches the cortex (bottom-up attention).

Effects of Wheelchair Seat-height Settings on Alternating Lower Limb Propulsion With Both Legs.

This study investigated the effects of seat-height settings of wheelchairs with alternating propulsion with both legs. Seven healthy individuals with no orthopedic disease participated. Flexion angles at initial contact (FA-IC) of each joint, range of motion during propulsion period (ROM-PP), and ground reaction force (GRF) were measured using a three dimensional motion capture system and force plates, and compared with different seat-height settings.

Immunohistochemical characterization of CD33 expression on microglia in Nasu-Hakola disease brains.

Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by formation of multifocal bone cysts and development of leukoencephalopathy, caused by genetic mutations of either DNAX-activation protein 12 (DAP12) or triggering receptor expressed on myeloid cells 2 (TREM2). Although increasing evidence suggests a defect in microglial TREM2/DAP12 function in NHD, the molecular mechanism underlying leukoencephalopathy with relevance to microglial dysfunction remains unknown. TREM2, by transmitting signals via the immunoreceptor tyrosine-based activation motif (ITAM) of DAP12, stimulates phagocytic activity of microglia, and ITAM signaling is counterbalanced by sialic acid-binding immunoglobulin (Ig)-like lectins (Siglecs)-mediated immunoreceptor tyrosine-based inhibitory motif (ITIM) signaling.

The effect of different positions on lower limbs skin perfusion pressure.

We have encountered situations of patients with critical limb ischemia accompanied by pain at rest and necrosis, who hang their legs down from the bed during sleep. This lower limb position is known to be a natural position, which reduces pain in the lower extremity induced by ischemia. However, the effect of this position on blood flow of the lower extremity is poorly understood.

[Investigation of visiospatial disturbance after acute encephalopathy].

Objective: We investigated the visiospatial disturbance in 103 children with acute encephalopathy at more than one year from the onset.

Methods: The patients were divided into two groups:group (1) with visiospacial disturbance (43 cases), group (2) without (60 cases). We checked the etiology, consciousness loss, complications and disabilities including higher cortical dysfunction in their medical charts.

[Prognoses of acute encephalopathy].

We investigated the prognoses of 103 children with acute encephalopathy at more than one year from the onset. The patients were divided into five groups according to the clinical courses during the acute stage;group 1:1 case with metabolic disorder, group, 2:24 with cytokine storms, group, 3:68 with prolonged convulsion more than 30 minutes, group, 4:5 with severe refractory status epilepticus, and group, 5:5 with the main symptom of impaired consciousness. We checked the past histories, etiologies, severities of consciousness loss, complications and disabilities including higher cortical dysfunction in their medical charts.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB).

[Prognosis of acute encephalopathy].

The prognosis in children with acute encephalopathy who were achieved rehabilitation in our rehabilitation center was presented. Main sequelae was motor disturbance 25%, mental deterioration 90%, higher cortical dysfunction 80% and epilepsy 70%. The patients were divided into 5 groups according to the clinical courses at the onset: cases with metabolic disorders, cases with cytokine storms, cases with status convultics, cases with severe refractory status epilepticus, and cases with the main symptom of decreased consciousness.

[Care continuity for pediatric patients with higher cortical dysfunction after traumatic brain injury].

Higher cortical dysfunction after traumatic brain injury(TBI) is one of the most important aspects for rehabilitation. Main etiology is traffic accidents and classification after TBI is diffuse axonal injury, cerebral contusion, etc. Though Wechsler Intelligence Scale for Children-III, Kaufman assessment battery for children, Trail Making Test, etc.

[Female with dentatorubral-pallidoluysian atrophy followed for 14 years from the pre-clinical stage: availability of gait analysis].

We presented a 28-year-old female with dentatorubral-pallidoluysian atrophy (DRPLA) who had been followed from the pre-clinical stage. Her mother and elder brother were diagnosed as DRPLA at autopsy. Though the genetic diagnosis was not performed, we diagnosed this patient as DRPLA from her clinical course and family history.

[Pediatric neurology in rehabilitation].

There are some criteria for administering pediatric rehabilitation, such as (1) plasticity of the child's brain sometimes plays an enormous roles in recovery, (2) on the other hand, break-down of the child's brain is sometimes worse than expected, (3) rehabilitation should be continued with the prospect that child grows and develops everyday, (4) family members should join their child's rehabilitation. The team approach is very effective for pediatric rehabilitation. The pediatric neurologist will be one of the best members of the team because he/she can manage a disabled child and his/her family members well, and is familiar with a normal child's development.

[Brain perfusion single photon emission computed tomography in children after acute encephalopathy].

We studied single photon emission computed tomography (SPECT) of 15 children with acute encephalopathy after more than 1 year from the onset, using technetium-99 m-L, L-ethyl cystinate dimer (99mTc-ECD) and a three-dementional stereotaxic region of interest template. Regional cerebral blood flow was evaluated and divided in three groups according to the severity of disability: absent or mild, moderate, and severe. There was no abnormality on SPECT in the patients without disability or with mild disability.

Kinematic effects on gait of a newly designed ankle-foot orthosis with oil damper resistance: a case series of 2 patients with hemiplegia.

The ankle joint of ankle-foot orthoses (AFOs) should restrict plantarflexion to prevent foot drop during the swing phase. However, excessive plantarflexion resistance causes excessive knee flexion during the stance phase. Plantarflexion resistive moment should be easily adjustable according to the gait ability of patients with hemiplegia.

Reversible conformational change of tau2 epitope on exposure to detergent in glial cytoplasmic inclusions of multiple system atrophy.

Tau-like immunoreactivity (IR) on glial cytoplasmic inclusions (GCIs) of multiple system atrophy (MSA) was investigated with a panel of anti-tau antibodies and we found that tau2, one of the phosphorylation-independent antibodies, preferentially immunolabeled GCIs. Co-presence (0.03%) of polyethyleneglycol- p-isooctylphenyl ether (Triton X-100, TX) with tau2, however, abolished this IR on GCIs, but did not abolish tau2 IR on neurofibrillary tangles (NFTs).

Shunt assistant valve: bench test investigations and clinical performance.

Background: We tested the flow characteristics of a new siphon-reducing device, the Shunt Assistant Valve trade mark (SAV) combined with a Codman-Hakim trade mark (CH) programmable valve and studied 4 clinical cases. We discussed the efficacy of the SAV at preventing low pressure syndrome secondary to overdrainage.

Materials And Methods: In the horizontal position the closing pressure (CP) of the SAV was 0.

[A 13-year-old-girl with Pickwickian syndrome and Asperger syndrome].

We reported a 13-year-old girl with Pickwickian syndrome and Asperger syndrome. The chief complaint on admission was apnea attacks during sleep. She had severe obesity.

Distribution and dynamic process of neuronal cytoplasmic inclusion (NCI) in MSA: correlation of the density of NCI and the degree of involvement of the pontine nuclei.

MSA is a sporadic degenerative disease that occurs in striatonigral degeneration (SND), SDS and most cases of sporadic OPCA. Oligodendroglial inclusion is a hallmark of MSA. Recently there have been a small number of reports of neuronal argyrophilic inclusions.

[Investigation to sequelae of acute encephalopathy].

We investigated 22 children with sequelae of acute encephalopathy. The patients were divided into 4 groups; group I with almost complete recovery (2 cases), group II with mild mental deterioration (4 cases), group III with severe mental deterioration (8 cases) and group IV with severe mental deterioration and severe physical disabilities (8 cases). There was no difference between 4 groups with regard to the past history, and status at the onset.

[Development of gait in childhood: a systematic gait analysis].

To study the normal gait development in childhood, we performed a systematic gait analysis on 37 normal children (20 boys and 17 girls) aged between two and six years. The gait cycle, single support phase, ratio of stride length to body height, plantiflexor angles of the feet and propelling force increased with age, whereas the ratio of gait width to stride length and dorsiflexor angles of the feet decreased. The knee-flexion waves, heel-strikes were found in all subjects.

[Latex allergy in patients with severe motor and intellectual disabilities syndrome].

Our experience of an anaphylactic reaction to latex in a severely disabled patient led us to investigate latex allergy in 58 cases with severe motor and intellectual disabilities syndrome. Latex specific IgE, total serum IgE, and eosinophil counts in peripheral blood were evaluated, as well as past history of treatment with medical latex materials, operation and allergic disorders. Only one case who had been operated three times, had anaphylactic reaction and mild atopic dermatitis.

[Effect of diazepam on apnea attacks in a 6-year-old girl with Rett syndrome: a polysomnographic study].

We reported a 6-year-old girl with Rett syndrome with severe apnea attacks following hyperventilation during wakefulness for which oral diazepam, 1.5 mg per day, showed marked effect. We evaluated the efficacy of diazepam by polysomnography.