The impact of electrosurgical devices on electromyography-based neuromuscular monitoring during abdominal laparotomy: a case series.

The present study aimed to evaluate the effect of electrosurgical devices on neuromuscular monitoring using an electromyography (EMG)-based neuromuscular monitor during abdominal laparotomy. Seventeen women (aged 32-64 years) undergoing gynecological laparotomy under total intravenous general anesthesia were enrolled in the study. A TetraGraph™ was placed to stimulate the ulnar nerve and to monitor the abductor digiti minimi muscle. After device calibration, train-of-four (TOF) measurements were repeated at intervals of 20 s. Rocuronium 0.6 to 0.9 mg/kg was administered for induction, and additional doses of 0.1 to 0.2 mg/kg were administered to maintain TOF counts ≤ 2 during the surgery. The primary outcome of the study was the ratio of measurement failure. The secondary outcomes of the study were the total number of measurements, the number of measurement failures, and the most extended consecutive number of measurement failures. The data are expressed as median (range). Of the 3091 (1480-8134) measurements, the number of measurement failures was 94 (60-200), resulting in a failure ratio of 3.5% (1.4-6.5%). The most extended consecutive number of measurement failures was 8 (4-13). All attending anesthesiologists were able to maintain and reverse neuromuscular blocks under EMG guidance. This prospective observational study demonstrated that the use of EMG-based neuromuscular monitoring does not seem to be heavily affected by electrical interference during lower abdominal laparotomic surgery. Trial registration This trial was registered in the University Hospital Medical Information Network under registration number UMIN000048138 (registration date; June 23, 2022).

Standard Error of the Mean and Minimal Detectable Change of Gait Speed in Older Adults Using Japanese Long-Term Care Insurance System.

Evaluation of motor function, such as gait ability, can accurately predict the subsequent occurrence of disability in older adults. There are no reports of standard error of the mean (SEM) or minimal detectable change (MDC) with respect to gait in Japanese long-term care insurance-certified individuals. The purpose of this study was to investigate the values of preferred gait, fast gait, and the timed up and go (TUG) test. This study included 46 participants using the Japanese long-term care insurance system. (age 86.5 ± 6.6 years, 12 men, 34 women). The duration of three gait were measured twice using a stopwatch. The SEM was 0.07 for preferred gait, 0.09 for fast gait and 2.59 for TUG. The MDC was 0.19 for preferred gait, 0.26 for fast gait, and 7.17 for TUG. The SEM and MDC values of preferred gait, fast gait, and TUG in this study corroborated with those of previous studies, whereas others were different. Considering that gait speed differs with the country, it may be difficult to compare it among different population groups. We obtained the results of gait speed of Japanese long-term care insurance-certified individuals, which is a new finding.

Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive, developmental delay, and neurological regression starting from approximately 3 years of age. Here, we report two siblings with ACOX1 deficiency born to non-consanguineous Japanese parents. They showed mild global developmental delay from infancy and began to regress at 5 years 10 months and 5 years 6 months of age respectively. They gradually manifested with cerebellar ataxia, dysarthria, pyramidal signs, and dysphasia. Brain MRI revealed T2 high-intensity areas in the cerebellar white matter, bilateral middle cerebellar peduncle, and transverse tracts of the pons, followed by progressive atrophy of these areas. Intriguingly, the ratios of C24:0, C25:0, and C26:0 to C22:0 in plasma, which usually increase in ACOX1 deficiency were within normal ranges in both patients. On the other hand, whole exome sequencing revealed novel compound heterozygous variants in ACOX1: a frameshift variant (c.160delC:p.Leu54Serfs*18) and a missense variant (c.1259 T > C:p.Phe420Ser). The plasma concentration of individual very long chain fatty acids (C24:0, C25:0, and C26:0) was elevated, and we found that peroxisomes in fibroblasts of the patients were larger in size and fewer in number as previously reported in patients with ACOX1 deficiency. Furthermore, the C24:0 ß-oxidation activity was dramatically reduced. Our findings suggest that the elevation of individual plasma very long chain fatty acids concentration, genetic analysis including whole exome analysis, and biochemical studies on the patient's fibroblasts should be considered for the correct diagnosis of ACOX1 deficiency.

Clinical Utility of Highly Purified 10% Liquid Intravenous Immunoglobulin in Kawasaki Disease.

Compared with a 5% intravenous immunoglobulin, a 10% intravenous immunoglobulin as the first-line treatment of Kawasaki disease significantly reduced the fever duration (10 vs 13 hours, P = .022) among the responders, and the interval to adjunctive therapy for nonresponders (47 vs 49 hours, P = .035). There were no severe adverse events.

Sustained endocrine profiles of a girl with WAGR syndrome.

BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1, PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions. CONCLUSIONS: Children with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized.

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.

Weaver syndrome (WS) is a rare congenital overgrowth disorder caused by heterozygous mutations in EZH2 (enhancer of zeste homolog 2) or EED (embryonic ectoderm development). EZH2 and EED are core components of the polycomb repressive complex 2 (PRC2), which possesses histone methyltransferase activity and catalyzes trimethylation of histone H3 at lysine 27. Here, we analyzed eight probands with clinically suspected WS by whole-exome sequencing and identified three mutations: a 25.4-kb deletion partially involving EZH2 and CUL1 (individual 1), a missense mutation (c.707G>C, p.Arg236Thr) in EED (individual 2), and a missense mutation (c.1829A>T, p.Glu610Val) in SUZ12 (suppressor of zeste 12 homolog) (individual 3) inherited from her father (individual 4) with a mosaic mutation. SUZ12 is another component of PRC2 and germline mutations in SUZ12 have not been previously reported in humans. In vitro functional analyses demonstrated that the identified EED and SUZ12 missense mutations cause decreased trimethylation of lysine 27 of histone H3. These data indicate that loss-of-function mutations of PRC2 components are an important cause of WS.

Altered strategy in short-term memory for pictures in children with attention-deficit/hyperactivity disorder: a near-infrared spectroscopy study.

Strategy in short-term memory for serially presented pictures shifts gradually from a non-phonological to a phonological method as memory ability increases during typical childhood development. However, little is known about the development of this strategic change in children with attention-deficit/hyperactivity disorder (ADHD). To understand the neural basis of ADHD, we investigated short-term memory strategies using near-infrared spectroscopy. ADHD children aged from 6 to 12 years and age- and sex-matched control children were assessed in this study. Regional activity was monitored in the left ventrolateral prefrontal cortex to assess strategies used during short-term memory for visual or phonological objects. We examined the hypothesis that the strategic methods used would be correlated with memory ability. Higher memory ability and the phonological strategy were significantly correlated in the control group but not in the ADHD group. Intriguingly, ADHD children receiving methylphenidate treatment exhibited increased use of phonological strategy compared with those without. In conclusion, we found evidence of an altered strategy in short-term memory in ADHD children. The modulatory effect of methylphenidate indicates its therapeutic efficacy.

Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.

A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form.

Parainfectious or autoimmune striatal lesions have been repeatedly described in children. We report a 7-year-old girl with painful muscle spasms, leading to the diagnosis of childhood stiff-person syndrome (SPS). Striatal lesions were demonstrated by diffusion-weighted magnetic resonance imaging (MRI) and single-photon emission computed tomography but not by conventional MRI. Autoantibodies against glutamic acid decarboxylase (GAD) were absent. Steroid pulse therapy and high-dose intravenous immunoglobulin resolved all the symptoms with slight sequelae. Childhood SPS may be characterized by absent anti-GAD antibodies and a transient benign clinical course, and it may have a pathomechanism distinct from that in adult SPS.

Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasia.

Acute encephalopathy in childhood is frequently associated with common infections, especially in East Asia. Various types have been identified although many cases remain unclassified. Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease presenting impairment of cortisol biosynthesis. We report three CAH children with acute infection-related encephalopathy. They exhibited disturbed consciousness or seizures, which did not improve after glucocorticoid administration, accompanied by clinical and laboratory findings of adrenal insufficiency. Brain MRI disclosed various patterns of white matter lesions, suggesting different types of acute encephalopathy such as clinically mild encephalitis/encephalopathy with a reversible splenial lesion or hemiconvulsion-hemiplegia syndrome. Acute encephalopathy should be considered and brain MRI immediately performed when impairment of consciousness does not improve after intravenous glucocorticoid administration in CAH patients. Further research is required to elucidate the epidemiology and pathogenic mechanisms of acute encephalopathy in CAH.

Strategy in short-term memory for pictures in childhood: a near-infrared spectroscopy study.

In Baddeley's working memory model, verbalizable visual material such as pictures are recoded into a phonological form and then rehearsed, while auditory material is rehearsed directly. The recoding and rehearsal processes are mediated by articulatory control process in the left ventrolateral prefrontal cortex (VLPFC). Developmentally, the phonological strategy for serially-presented visual material emerges around 7 years of age, while that for auditory material is consistently present by 4 years of age. However, the strategy change may actually be correlated with memory ability as this usually increases with age. To investigate the relationship between the strategy for pictures and memory ability, we monitored the left VLPFC activation in 5 to 11 year-old children during free recall of visually- or auditorily-presented familiar objects using event-related near-infrared spectroscopy. We hypothesized that the phonological strategy of rehearsal and recoding for visual material would provoke greater activation than only rehearsal for auditory material in the left VLPFC. Therefore, we presumed that the activation difference for visual material compared with auditory material in the left VLPFC may represent the tendency to use a phonological strategy. We found that the activation difference in the left VLPFC showed a significant positive correlation with memory ability but not with age, suggesting that children with high memory ability make more use of phonological strategy for pictures. The present study provides functional evidence that the strategy in short-term memory for pictures shifts gradually from non-phonological to phonological as memory ability increases in childhood.