Central precocious puberty (CPP) is puberty that occurs at an unusually early age with several negative psychological outcomes. There is a paucity of data on the morphological characteristics of the ...brain in CPP. This study aimed to determine the structural differences in the brain of patients with CPP.
We performed voxel- and surface-based morphometric analyses of 1.5 T T1-weighted brain images scanned from 15 girls with CPP and 13 age-matched non-CPP controls (NC). All patients with CPP were diagnosed by gonadotropin-releasing hormone (GnRH) stimulation test. The magnetic resonance imaging (MRI) data were evaluated using Levene's test for equality of variances and a two-tailed unpaired t-test for equality of means. False discovery rate correction for multiple comparisons was applied using the Benjamini-Hochberg procedure.
Morphometric analyses of the brain scans identified 33 candidate measurements. Subsequently, increased thickness of the right precuneus was identified in the patients with CPP using general linear models and visualizations of cortical thickness with a t-statistical map and a random field theory map.
The brain scans of the patients with CPP showed specific morphological differences to those of the control. The features of brain morphology in CPP identified in this study could contribute to further understanding the association between CPP and detrimental psychological outcomes.
Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) ...lines derived from four Japanese female patients with Rett syndrome are generated from peripheral blood mononuclear cells using Sendai virus vectors. The generated hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift, missense, or nonsense mutations in the MECP2 gene. Since the molecular pathogenesis caused by MECP2 dysfunction remains unclear, these cell resources are useful tools to establish disease models and develop new therapies for Rett syndrome.
Peripheral nerve imaging is increasingly recognized as a powerful tool to evaluate nerve hypertrophy in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot-Marie-Tooth ...diseases (CMT), whereas data in pediatric patients are limited.
We describe the case of a 15-year-old Japanese girl with asymmetric demyelinating polyneuropathy, who, at the age of 10 years, was initially diagnosed with a demyelinating form of CMT. Fluorescence in situ hybridization for peripheral myelin 22 was negative, and already-known pathogenic variants were not detected by whole-genome sequencing, and nerve conduction studies revealed multifocal conduction blocks. Over the next 5 years, the patient showed gradual improvement in muscle weakness and sensory disturbance without immunological treatment and was referred to our hospital.
At the age of 15 years, magnetic resonance (MR) neurography showed asymmetric multifocal fusiform enlargement of nerve roots, brachial and lumbosacral plexuses, and intermediated nerve trunks, as well as cranial nerves. Based on the MR neurography findings and multifocal nerve conduction blocks, she was diagnosed as having multifocal CIDP (multifocal demyelinating sensory and motor neuropathy MADSAM) according to the European Federation of Neurological Societies/Peripheral Nerve Society diagnostic criteria.
Clinical diagnosis of childhood CIDP is challenging because its neurological manifestations and nerve conduction study findings occasionally resemble those of inherited demyelinating neuropathies. MR neurography is helpful for the assessment of patterns of nerve hypertrophy; MADSAM-CIDP is characterized by multiple fusiform nerve enlargement, whereas CMT shows symmetric and diffuse nerve hypertrophy.
The MR neurography patterns would help in diagnosing pediatric demyelinating neuropathies.
Focal cerebral arteriopathy (FCA) is a common cause of childhood arterial ischemic stroke in previously healthy children. Although its mechanisms are poorly understood, recent studies have suggested ...inflammatory processes. Magnetic resonance vessel wall imaging (VWI) is a potential imaging biomarker of inflammation.
Case description: We describe the case of a 7-year-old Japanese girl with right hemiplegia and dysarthria for 3 days. Brain MRI showed acute infarct in the left basal ganglia, and MRA and conventional cerebral angiogram detected vascular stenosis in the left distal internal carotid artery, left M1 and A1 segments. VWI revealed marked vessel wall enhancement and thickening in the left carotid artery, M1, and A2 segments. Based on imaging findings, she was diagnosed with acute ischemic stroke caused by FCA. Because VWI findings were thought to suggest vessel wall inflammation, high-dose steroid therapy was administered in addition to neuroprotective care and antithrombotic therapy. Although her clinical symptoms improved immediately, cerebral arteriopathy worsened on MRA a month after the onset. Subsequently, after 3 months of steroid therapy, vessel wall enhancement on VWI decreased, while arterial stenosis partially improved. At the follow-up 9 months after the onset, she had no recurrent stroke, her arteriopathy had stabilized.
Definitive evidence of inflammatory mechanisms in FCA is limited, and appropriate management and treatment strategies for FCA are undefined. VWI attempts to demonstrate pathologic processes within the vessel wall, and reversible wall enhancement observed in our patient suggested the presence of inflammation. VWI would help in the evaluation of disease activity in FCA.
VWI may contribute to the appropriate diagnosis and treatment for FCA to reflect active inflammation. Further work is needed to assess the utility of VWI in pediatric FCA.
Guillain-Barré syndrome (GBS), Fisher syndrome (FS), and Bickerstaff brainstem encephalitis (BBE) are immune-mediated neuropathies presenting with symptoms such as weakness, ophthalmoplegia, ataxia, ...and consciousness disturbances. Although the epidemiology of GBS and BBE in patients of all ages has been reported, childhood data have not been well-investigated. We aimed to determine the clinical features, therapeutics, and prognoses of childhood GBS, FS, and BBE in Japan.
We sent questionnaires to 1068 pediatric neurologists in Japan from 2014 to 2016 to determine the number of children less than 15 years old with GBS, FS, or BBE and their age and sex. We subsequently performed a secondary survey to investigate the clinical features, laboratory data, treatment, and prognosis.
Five-hundred thirty-eight pediatric neurology specialists (50.4%) responded to the first survey. The total number of children with GBS, FS, and BBE in Japan from 2014 to 2016 were 87, 10, and 6, respectively. GBS was classified as acute inflammatory demyelinating neuropathy (35.6%), acute motor axonal neuropathy (20.7%), or acute motor-sensory axonal neuropathy (10.3%), with a male-to-female ratio of 1.29:1.0 and a wide distribution of onset ages. The disease severities of GBS, FS, and BBE were variable, but all children could walk within one year.
The prognoses of childhood GBS, FS, and BBE were generally favorable, as long as the patient was promptly treated with either intravenous immunoglobulin or plasma exchange.
BACKGROUNDFocal cerebral arteriopathy (FCA) is a common cause of childhood arterial ischemic stroke in previously healthy children. Although its mechanisms are poorly understood, recent studies have ...suggested inflammatory processes. Magnetic resonance vessel wall imaging (VWI) is a potential imaging biomarker of inflammation. CASE DESCRIPTIONWe describe the case of a 7-year-old Japanese girl with right hemiplegia and dysarthria for 3 days. Brain MRI showed acute infarct in the left basal ganglia, and MRA and conventional cerebral angiogram detected vascular stenosis in the left distal internal carotid artery, left M1 and A1 segments. VWI revealed marked vessel wall enhancement and thickening in the left carotid artery, M1, and A2 segments. Based on imaging findings, she was diagnosed with acute ischemic stroke caused by FCA. Because VWI findings were thought to suggest vessel wall inflammation, high-dose steroid therapy was administered in addition to neuroprotective care and antithrombotic therapy. Although her clinical symptoms improved immediately, cerebral arteriopathy worsened on MRA a month after the onset. Subsequently, after 3 months of steroid therapy, vessel wall enhancement on VWI decreased, while arterial stenosis partially improved. At the follow-up 9 months after the onset, she had no recurrent stroke, her arteriopathy had stabilized. DISCUSSIONDefinitive evidence of inflammatory mechanisms in FCA is limited, and appropriate management and treatment strategies for FCA are undefined. VWI attempts to demonstrate pathologic processes within the vessel wall, and reversible wall enhancement observed in our patient suggested the presence of inflammation. VWI would help in the evaluation of disease activity in FCA. CONCLUSIONVWI may contribute to the appropriate diagnosis and treatment for FCA to reflect active inflammation. Further work is needed to assess the utility of VWI in pediatric FCA.
Objectives
Evaluation of Helicobacter pylori infection status (non‐infection, past infection, current infection) has become important. This study aimed to determine the usefulness of the Kyoto ...classification of gastritis for diagnosing H. pylori infection status by endoscopy.
Methods
In this prospective study, 498 subjects were recruited. Seven well‐experienced endoscopists blinded to the history of eradication therapy performed the examinations. Endoscopic findings were assessed according to the Kyoto classification of gastritis: diffuse redness, regular arrangement of collecting venules (RAC), fundic gland polyp (FGP), atrophy, xanthoma, hyperplastic polyp, map‐like redness, intestinal metaplasia, nodularity, mucosal swelling, white and flat elevated lesion, sticky mucus, depressive erosion, raised erosion, red streak, and enlarged folds. We established prediction models according to a machine learning procedure and compared them with general assessment by endoscopists using the Kyoto classification of gastritis.
Results
Significantly higher diagnostic odds were obtained for RAC (32.2), FGP (7.7), and red streak (4.7) in subjects with non‐infection, map‐like redness (12.9) in subjects with past infection, and diffuse redness (26.8), mucosal swelling (13.3), sticky mucus (10.2) and enlarged fold (8.6) in subjects with current infection. The overall diagnostic accuracy rate was 82.9% with the Kyoto classification of gastritis. The diagnostic accuracy of the prediction model was 88.6% for the model without H. pylori eradication history and 93.4% for the model with eradication history.
Conclusions
The Kyoto classification of gastritis is useful for diagnosing H. pylori infection status based on endoscopic findings. Our prediction model is helpful for novice endoscopists. (UMIN000016674).
Calorie restriction (CR) by 30-40% decreases morbidity of age-related diseases and prolongs the lifespan of various laboratory animal species. Taurine (2-aminoethanesulfonic acid) is an important ...nutrient for lipid metabolism as it conjugates bile acids. Here, we investigated how taurine supplementation induces effects similar to the CR beneficial effects. Sprague Dawley rats were fed a diet containing different taurine concentrations (0, 0.5, 1.0, 3.0, 5.0%) to analyze the effects on growth, blood, and hepatic parameters. Rats fed a 5% taurine-supplemented diet showed a significant decrease in visceral fat weight, compared with control rats. Moreover, there were significant decreases in the serum total cholesterol, hepatic cholesterol and triglyceride concentrations in the taurine-supplemented groups compared with the control group in a dose-dependent manner. These results were associated with decreased mRNA expression of fatty acid synthase, and increased mRNA expression of carnitine palmitoyltransferase 1α. C57BL/6 mice were fed a 5.0% taurine-supplemented diet, and their response to 3-nitropropionic acid-induced oxidative stress was analyzed. The rate of weight loss due to oxidative stress decreased and the survival rate significantly increased in the taurine-supplemented groups compared with the control group. Finally, cells were treated with 100 μM taurine and their resistance to UV-induced oxidative stress was analyzed. We found that the p53-Chk1 pathway was less activated in taurine-treated cells compared with control cells. Furthermore, damage to cells evaluated by oxidative stress indicators revealed a reduction in oxidative damage with taurine treatment. These findings suggest that taurine partially acts as a CR mimetic.
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