• Journal of mucopolysaccharidosis and rare diseases
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• 제2권2호
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• pp.38-40
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• 2016

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제27권1호
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• pp.64-71
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• 2016

Objectives: The objective of this study was to examine the effects of osmotic-controlled release oral delivery system methylphenidate on changes in regional cerebral blood flow (rCBF) in children with attention-deficit hyperactivity disorder (ADHD) using single photon emission computed tomography (SPECT). Methods: A total of 26 children with ADHD (21 boys, mean age: $9.2{\pm}2.05$ years old) were recruited. Each ADHD participant was examined for changes in rCBF using technetium-99m-hexamethylpropylene amine oxime brain SPECT before and after 8 weeks methylphenidate medication. Brain SPECT images of pediatric normal controls were selected retrospectively. SPECT images of ADHD children taken before medication were compared with those of pediatric normal controls and those taken after medication using statistical parametric mapping analysis on a voxel-wise basis. Results: Before methylphenidate medication, significantly decreased rCBF in the cerebellum and increased rCBF in the right precuneus, left anterior cingulate, right postcentral gyrus, right inferior parietal lobule and right precentral gyrus were observed in ADHD children compared to pediatric normal controls (p-value<.0005, uncorrected). After medication, we observed significant hypoperfusion in the left thalamus and left cerebellum compared to pediatric normal controls (p-value<.0005, uncorrected). In the comparison between before medication and after medication, there was significant hyperperfusion in the superior frontal gyrus and middle frontal gyrus and significant hypoperfusion in the right insula, right caudate, right middle frontal gyrus, left subcallosal gyrus, left claustrum, and left superior temporal gyrus after methylphenidate medication (p-value<.0005, uncorrected). Conclusion: This study supports dysfunctions of fronto-striatal structures and cerebellum in ADHD. We suggest that methylphenidate may have some effects on the frontal lobe, parietal lobe, and cerebellum in children with ADHD.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제8권1호
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• pp.113-122
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• 1997

자폐장애아동들에서 기질적 원인 규명의 일환으로 뇌자기공명촬영 소견의 이상유무를 알아보기 위함이다. 1991년 4월부터 1996년 3월까지 계명대학교 동산의료원 정신과 외래를 방문한 자폐장애 아동에서 뇌자기공명촬영이 시행되었던 환아중 경련성 질환이나 선천성 질환이 동반된 경우를 제외한 22명의 남자 환아군을 선택하고 계명대학교 동산의료원의 타과의 입원 또는 외래치료를 받았던 비자폐장애 아동중 자기공명촬영 소견이 정상인 17명을 대조군으로 하여 뇌자기 공명촬영상 뇌의 각 구조를 정량적으로 측정하여 t-test로 비교분석하였다. 현재까지 자폐장애아동에서 이상소견이 많이 나타나는 것으로 보고된 정중시상단면과 횡단면에서의 제4뇌실의 크기, 뇌교의 크기를 측정하고 소뇌의 크기, 후두와의 소뇌의 비율을 측정하고 그 외 대뇌의 각 구조와 전체 대뇌와의 크기의 비율을 측정했다. 구조물의 측정법은 선상측정법을 사용했으며 자기공명촬영기는 본원의 GoldStar Spectro 2000 초전도 자기공명영상 단층촬영기를 사용했다. 대조군과 비교하여 자폐장애 아동에서의 소견은 다음과 같다. 1) 우측 측뇌실에 대한 좌측 측뇌실의 비율(La/Ra)이 증가되었다. 2) 후두와에 대한 뇌교의 비율(m/j)이 증가되었다. 3) 후두와에 대한 소뇌의 비율(o/p)이 감소되었다. 자폐장애 아동에서 전두엽, 뇌교 그리고 소뇌 부위에서의 기질적인 이상이 있을 가능성을 시사한다.

• 대한한방내과학회지
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• 제39권4호
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• pp.802-813
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• 2018

This case report describes a patient with olivopontocerebellar atrophy accompanied by sleep disorder and gait disturbance whose condition was improved by treatment with Korean medicine. The 61-year-old woman, who was diagnosed with olivopontocerebellar atrophy (Multiple Systemic Atrophy-Cerebellum), was admitted to hospital twice and treated with Korean medicine (acupuncture and herbal medicine) and rehabilitation. The Korean medicine was Gwibiondam-tang-gami and Jaeumgeonbi-tang-gami. Clinical symptoms were assessed by the Modified Bathel index, functional independent measurement, Berg balance scale, and Unified Multiple System Atrophy rating scale. A brain MRI at the one-year follow up after onset showed similar progress but clinical symptoms were improved after treatment, and the evaluation index score increased. Multiple system atrophy, a type of degenerative neurological disease, has no targeted treatment. In this situation, although this report describes a single case, Korean medicine treatment could provide a meaningful improvement in the sleep disturbance and gait disorder symptoms of patients with olivopontocerebellar atrophy.

• Molecules and Cells
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• 제27권6호
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• pp.621-627
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• 2009

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies have clarified the molecular mechanisms of SCA1 pathogenesis and provided direction for future therapeutic approaches. The nucleus is the subcellular site where misfolded mutant ataxin-1 acts to cause SCA1 disease in the cerebellum. The role of these nuclear aggregates is the subject of intensive study. Additional proteins have been identified, whose conformational alterations occurring through interactions with the polyglutamine tract itself or non-polyglutamine regions in ataxin-1 are the cause of SCA-1 cytotoxicity. Therapeutic hope comes from the observations concerning the reduction of nuclear aggregation and alleviation of the pathogenic phenotype by the application of potent inhibitors and RNA interference.

• Molecules and Cells
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• 제41권5호
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• pp.373-380
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• 2018

Synapses and neural circuits form with exquisite specificity during brain development to allow the precise and appropriate flow of neural information. Although this property of synapses and neural circuits has been extensively investigated for more than a century, molecular mechanisms underlying this property are only recently being unveiled. Recent studies highlight several classes of cell-surface proteins as organizing hubs in building structural and functional architectures of specific synapses and neural circuits. In the present minireview, we discuss recent findings on various synapse organizers that confer the distinct properties of specific synapse types and neural circuit architectures in mammalian brains, with a particular focus on the hippocampus and cerebellum.

• 대한수의학회지
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• 제63권3호
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• pp.26.1-26.5
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• 2023

Syringobulbia is a rare neurological disorder characterized by a fluid-filled cavity in the brainstem. In this study, clinical signs, features on magnetic resonance imaging (MRI), and the diseases present concurrently with syringobulbia were investigated in 33 small breed dogs. Most dogs (97%) had concurrent syringomyelia, and some dogs (24%) presented with vestibular or cranial nerve symptoms associated with the medulla oblongata. MRIs revealed slit-like, bulbous, and vertical linear shapes of the cavities on T2-weighted hyperintense and T1-weighted hypointense signals similar to the cerebrospinal fluid. Chiari-like malformations were identified in all dogs. This study highlights the association of syringobulbia with syringomyelia and Chiari-like malformations in small breed dogs with or without brainstem-associated clinical signs.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제4권1호
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• pp.68-78
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• 1993

Tourette씨병과 만성틱장애는 7세 전후한 연령에서 가장 흔히 시작되는 소아 또는 청소년기의 행동장애로서 서로 밀접한 관련성을 가지고 있으며, 또한 유전적인 경향이 아주 강한 질환들로 알려져 있다. 원인으로서도 여러가지 가설이 있으나 뇌의 기능 또는 기질적인 장애로 인하여 발병될 가능성도 클 것으로 추정되고 있다. 이에 본 연구는 이 질환들의 생물학적인 원인들 중 일부를 살펴보기 위하여 단일광자방출 전산화단층촬영술을 시행하고 다음과 같은 결과를 얻었다. 1) 31.0%(13/42)에서 대뇌피질의 혈류감소 소견을 보였으며, 전두엽이 가장 흔한 혈류 이상 소견을 보인 부위였다.2) 4.8%(2/42)애서 대뇌기저핵의 혈류에 감소를 나타내었다. 3) 4.8%(2/42)에서 시상부의 혈류감소가 관찰되었다. 4) 16.7%(7/42)에서 소뇌의 혈류감소가 관찰되었다. 5) 주의력결핍과잉운동장애가 동반된 군과 동반되지 않은 군간에 혈류장애의 빈도에 있어서의 차이는 관찰되지 않았다. 6) Tourette씨병과 만성틱장애에 있어서, 혈류장애가 동반된 빈도에 있어서의 차이는 관찰되지 않았다. 이상의 걸과로 미루어 Tourette씨병과 만성틱장애의 생물학적인 원인중의 하나로 뇌혈류장애와 관계가 있을 가능성이 있으며, 뇌혈류의 정도를 정량화시키거나, 또는 자기공명영상과 같은 방법을 병행하여 연구를 시행함으로써, 본 연구의 타당성을 높여줄 수 있으리라 기대된다.

• 대한한방내과학회지
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• 제32권3호
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• pp.435-443
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• 2011

Fahr disease (FD) is a rare neurological disorder characterized by presence of abnormal and associated cell loss in certain areas of the brain, mostly in basal ganglia, thalamus, cerebellum and subcortical areas. Approximately two-thirds of the patients are symptomatic. The most common neurological manifestations include movement disorders, cognitive impairment, cerebellar signs and speech disorders. We report one case of estimated FD through brain computed tomography (bilateral calcifications of basal ganglia, thalamus, centrum semiovale, subcortical white matter of occipital lobes, cerebellum). At the first time of treatment, he complained of tremors in his upper limbs. We diagnosed the patient as deficiency of qi (氣) and movement of phlegm-heat-wind (痰熱風動) type according to symptoms and treated by herbs and acupuncture of oriental medicine. During treatments, we evaluated how well the oriental medical treatments were working using visual analogue scale (VAS) and amplitude of hands. After the oriental medical treatments about tremor, VAS dropped from 10 to 2 and amplitude of hands from 20 mm to 2 mm, but the ratio of brain calcifications was not changed. This study suggests that oriental medical treatments can be applicable to improve FD.

• 대한약침학회지
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• 제12권4호
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• pp.5-32
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• 2009

Objectives: This study was performed to analyse single dose toxicity of pure melittin(Sweet Bee Venom-Sweet BV) extracted from the bee venom by utilizing protein isolation method of gel filtration. Methods: All experiments were conducted at Biotoxtech, a non-clinical studies authorized institution, under the regulations of Good Laboratory Practice (GLP). Six weeks old female Sprague-Dawley rats were chosen for the pilot study and determined 30㎎/㎏ which is 4285 times higher than the clinical application dosage as the high dosage, followed by 15 and 7.5㎎/㎏ as mid and lose dosage, respectively. Equal amount of excipient to the Sweet BV experiment groups was administered as the control group. Results: 1. No mortality was witnessed in all of the experiment groups. 2. Hyperemia and movement disorder were observed around the area of administration in all groups, and higher occurrence in the higher dosage groups. Hyperemia and movement disorder diminished with elapsed time. 3. For the weight measurement, male groups showed larger reduction in weight in accordance with higher dosage. Female groups didn't s how significant changes. 4. To verify abnormalities of organs and tissues, cerebellum, cerebrum, liver, lung, kidney, and spinal nerves were removed and conducted histological observation with H-E staining. No abnormalities were detected in any of organs and tissues. 5. One female rat in the 30㎎/㎏ group had amputated toe near the administered area and histopathological finding was hemorrhage with inflammation. This is presumed as a secondary infection after the administration of Sweet BV. Conclusion: Above findings suggest Sweet BV is relatively s safe treatment medium. Further studies on the subject should be conducted to yield more concrete evidences.