Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies.
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Acute Disease↗
Biomedical subjects
Y Kohno
Publications and source records attributed to Y Kohno.
Release and aggregation of cytochrome c and alpha-synuclein are inhibited by the antiparkinsonian drugs, talipexole and pramipexole.
Recently, it has been shown that release of cytochrome c from the mitochondria to the cytosol is required for activation of the caspase-3-dependent cascade in apoptosis, and also for alpha-synuclein aggregation. In the present study, we examined the effects of talipexole and pramipexole on the release of cytochrome c and alpha-synuclein, their aggregations, and activation of caspases. Treatment of human neuroblastoma SH-SY5Y cells with 1-methyl-4-phenylpyridinium (MPP(+), 1 mM) induced the first event, which was the release of cytochrome c from the organellar fraction to the cytosolic fraction, then came the DNA fragmentation, and caused the last event, which was the accumulation of alpha-synuclein protein in the cytosolic fraction. Talipexole and pramipexole at low concentration (0.1-1 mM) significantly inhibited the accumulation of cytochrome c or alpha-synuclein in the cytosolic fraction. These drugs at high concentration (3-10 mM) inhibited in vitro aggregation of cytochrome c by hydrogen peroxide or that of alpha-synuclein by cytochrome c and hydrogen peroxide. In addition, in vitro activation of caspase-3 induced by cytochrome c and/or dATP was also inhibited by drugs at high concentration (5-10 mM). These results suggest that talipexole and pramipexole may have protective effects against the neurodegeneration, which is induced by intracellular accumulation of cytochrome c and alpha-synuclein.
1-Methyl-4-phenylpyridinium↗
Uptake by vascular smooth muscle cells plays an important role in targeting of lipid microspheres incorporating prostaglandin E1 into a thickened intima.
A study was done to determine how lipid microspheres (LM) containing prostaglandin E1 (lipo PGE1) accumulate in injured arterial tissue. After administration of lipo PGE1 labeled with a fluorescence probe, 1,1'-dioctadecyl-3, 3, 3',3'-tetramethyl-indocarbocyanine perchlorate (DiI-lipo PGE1) to rats 14 of days after balloon injury of the carotid artery, localization into the injured site was examined using a fluorescence confocal laser scanning microscope (CLSM). In contrast with the normal carotid artery, DiI-lipo PGE1 accumulated remarkably in neointima of the injured site which was occupied mainly by the migration of the proliferating and quiescent vascular smooth muscle cells (SMC). In vitro cellular uptake of DiI-lipo PGE1 was semi-quantitatively measured using CLSM, regarding differentiated and proliferative phenotypes of human vascular SMC, compared with the human endothelial cells (EC) and mouse fibroblasts. The differentiated SMC incorporated DiI-lipo PGE1 to equal or a higher level of the proliferative phenotype, and was significantly higher than EC and fibroblasts. The uptake of DiI-lipo PGE1 by both SMC and EC was inhibited at 4 degrees C, by dansylcadaverine and excessive LM, but was unaffected by cytochalasin B. These results suggest that the uptake of DiI-lipo PGE1 by SMC plays an important role in localization of DiI-lipo PGE1 at the injured site, and that the uptake seems to be a receptor mediated endocytosis.
3T3 Cells↗
Monocyte chemoattractant protein 1 gene regulatory region polymorphism and serum levels of monocyte chemoattractant protein 1 in Japanese patients with Kawasaki disease.
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Chemokine CCL2↗
A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
Most mutation-related aberrant splicing occurs in the conserved splice-acceptor and -donor sites and some exonic mutations also affect splicing. We identified and characterized a point mutation (380C>T) in a Spanish patient (GK25) with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. GK25 is a homozygote of 380C>T, which activates a cryptic splice-acceptor site 5 bases downstream from 380C>T within exon 5, causing aberrant splicing in 94% of transcripts. The aberrant splicing results in a 17-amino acids deletion, including the active-site 126Cys. The 380C>T mutation also results in A127V mutation in 6% of transcripts. Transient expression analysis showed that the A127V mutation did not retain T2 activity, indicating that 380C>T was a null mutation. Although this cryptic splice site has a higher Shapiro and Senapathy's score (86) in even a normal sequence than the authentic splice-acceptor site of intron 4 (78), it is not used in normal controls. While the 380C>T mutation increases the score slightly (90), the cryptic splice site is used in almost all transcripts in GK25 fibroblasts. This is an example in which a point mutation activates a cryptic splice-acceptor site motif that is used preferentially over the upstream authentic splice site.
Acetyl-CoA C-Acyltransferase↗
Empty sella in children as a key for diagnosis.
We performed magnetic resonance imaging of the pituitary gland in 354 children who were under the care of our pediatric neurological outpatient department. Among them, an empty sella was recognized in 11 children, who all showed normal hormonal results. The frequency of an empty sella was significantly high in idiopathic intracranial hypertension (4/4; P<0.0001) and nevoid basal cell carcinoma syndrome (3/5; P<0.0001). The ratio of an empty sella in children, excluding patients with idiopathic intracranial hypertension and nevoid basal cell carcinoma syndrome, is estimated to be 4/345 (1.2%), which is markedly lower than that in adults. Magnetic resonance imaging of the pituitary gland in children could provide important clues for the diagnosis of idiopathic intracranial hypertension or nevoid basal cell carcinoma syndrome.
Adolescent↗
2-Nonenal newly found in human body odor tends to increase with aging.
Human body odor consists of various kinds of odor components. Here, we have investigated the changes in body odor associated with aging. The body odor of subjects between the ages of 26 and 75 was analyzed by headspace gas chromatography/mass spectrometry. 2-Nonenal, an unsaturated aldehyde with an unpleasant greasy and grassy odor, was detected only in older subjects (40 y or older). Furthermore, analysis of skin surface lipids revealed that omega7 unsaturated fatty acids and lipid peroxides also increased with aging and that there were positive correlations between the amount of 2-nonenal in body odor and the amount of omega7 unsaturated fatty acids or lipid peroxides in skin surface lipids. 2-Nonenal was generated only when omega7 unsaturated fatty acids were degraded by degradation tests in which some main components of skin surface lipids were oxidatively decomposed using lipid peroxides as initiator of an oxidative chain reaction. The results indicate that 2-nonenal is generated by the oxidative degradation of omega7 unsaturated fatty acids, and suggest that 2-nonenal may be involved in the age-related change of body odor.
Adult↗
Suppression of conditioned fear by administration of CCKB receptor antisense oligodeoxynucleotide into the lateral ventricle.
We investigated the role of CCK in the development of anxiety by determining whether CCKB receptor antisense suppressed intracellular Ca(2+) concentration in vitro or suppressed conditioned fear stress in vivo. First, for the in vitro studies, we used rat pituitary tumor GH3 cells since these cells have CCKB receptors. GH3 cells were stimulated by 10 microM CCK-4; intracellular Ca(2+) concentration was measured. The CCKB receptor antisense at 1 or 10 microM reduced the subsequent response to 10 microM CCK-4 in a time-dependent manner. Second, for the in vivo studies, the CCKB receptor antisense, sense, random sense, or saline was infused at a constant rate for 6 days into rat lateral ventricles via mini-osmotic pumps. Individual rats were then subjected to 30 min of inescapable electric footshock in a chamber with a grid floor. Twenty-four hours later, the rat was again placed in the chamber and observed for 5 min without shocks. This study showed that CCKB receptor antisense significantly suppressed intracellular Ca(2+) concentration in GH3 cells and significantly reduced freezing behavior in rats, indicating that the CCKB receptor plays an important role in anxiety.
Animals↗
Q fever encephalitis with cytokine profiles in serum and cerebrospinal fluid.
A 7-year-old boy with acute encephalitis was proved to have Coxiella burnetii infection. Cerebrospinal fluid but not serum had elevated values of interleukins 1-beta and 6, but not of tumor necrosis factor.
Antibodies, Bacterial↗
Acute encephalopathy associated with nontyphoidal salmonellosis.
The importance of an acute encephalopathy associated with nontyphoidal salmonellosis has recently been recognized, but the disease entity has been poorly established. In this study, we describe two encephalopathic patients associated with nontyphoidal salmonellosis. The patients exhibited a rapid evolution of coma after the onset of lethargy or seizure. Fever and diarrhea due to salmonellosis preceded these events. Secondary factors inducing encephalopathies, such as severe dehydration, sepsis, meningitis, electrolyte or metabolic disturbances, acute renal failure, and multiple organ failure, were excluded in the differential diagnosis at the onset of encephalopathic features. These clinical findings and rapid development of encephalopathic features from localized intestinal infection without any significant abnormalities in a variety of blood tests may suggest a toxic etiology. However, endotoxin was not found in serum from both patients. From these results, we conclude that nontyphoidal salmonellosis can cause a toxic encephalopathy syndrome, like shigellosis or verocytotoxin-producing Escherichia coli infection.
Acute Disease↗
Analysis of the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene in pseudohypoparathyroidism type 1b.
Hypocalcemia and hyperphosphatemia caused by PTH resistance are the only discernible abnormalities in pseudohypoparathyroidism type 1b (PHP-1b). Because of the selective resistance toward PTH, inactivating mutations in its receptor, the PTH/PTH-related peptide receptor (PTHR1), were thought to be responsible for PHP-1b. However, gene abnormalities responsible for PHP-1b have not been identified in the coding region and well conserved promoters (P1 and P2) of the PTHR1 gene. The purpose of the present study was to analyze the structure of the P3 promoter, the main promoter of the human PTHR1 gene in kidney, in patients with PHP-1b. Southern analysis of genomic DNA from lymphoblastoid cell lines of eight nonfamilial patients with PHP-1b revealed neither gross rearrangements nor methylation abnormalities in the P3 promoter region of the PTHR1 gene. Sequencing revealed no abnormalities in the P3 promoter region, although one patient was homozygous for an (AAAG)n polymorphic variant. In conclusion, despite the selective resistance toward PTH in the kidney, which mainly uses the PTHR1 P3 promoter, PHP-1b in eight cases is not associated with structural abnormalities in this promoter. This study also indicates that inactivation of the P3 promoter is not achieved by methylation as tested in patients' genomic DNA from lymphoblastoid cell lines. The influence of alterations in the polymorphic A-rich repeat sequence on promoter activity warrants further study.
Adolescent↗
Case of adrenocorticotropic hormone-independent macronodular adrenal hyperplasia with possible adrenal hypersensitivity to angiotensin II.
With increasing case reports, it has been indicated that some cases with adrenocorticotropic hormone (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) show abnormal responses in cortisol to various stimulation tests. Here we report a case of AIMAH that showed an aberrant response to angiotensin II via AT1 receptor in cortisol hypersecretion. A 53-yr-old man was admitted to our division seeking further examinations for the possible diagnosis of Cushing's syndrome. He had hypertension, diabetes mellitus, and physical stigmata, such as moon face and central obesity. His plasma ACTH level was undetectable, and plasma cortisol level was high. Plasma cortisol showed no normal diurnal rhythm and was not suppressed after the administration of 8 mg of dexamethasone. Abdominal computed tomography demonstrated nodular enlargement of bilateral adrenal glands. He was diagnosed with Cushing's syndrome owing to AIMAH. An injection of arginine vasopressin (AVP) increased plasma cortisol and aldosterone levels, whereas ACTH remained undetectable. After 4 h in an upright position, plasma cortisol and aldosterone levels were increased. Pretreatment with candesartan, angiotensin II receptor AT1 antagonist, blocked the increase in plasma cortisol level. These results suggested a possibility of adrenal hypersensitivity to angiotensin II and AVP in cortisol secretion. Bilateral laparoscopic adrenalectomy was performed. The histological findings of the specimen were compatible with AIMAH. In summary, we have made the first report on a case of AIMAH with possible hypersensitivity to angiotensin II.
Adrenal Glands↗
MR imaging of idiopathic intracranial hypertension.
We report the case of a 9-year-old male patient with idiopathic intracranial hypertension without papilledema for which MR imaging of the optic nerves and pituitary gland provided important clues for the diagnosis of idiopathic intracranial hypertension and showed a return to normal appearance after normalization of CSF pressure.
Child↗
Significance of clinical risk factors of cystic periventricular leukomalacia in infants with different birthweights.
UNLABELLED: Fifteen appropriate-for-date premature low-birthweight infants with cystic periventricular leukomalacia (PVL) were studied. The infants were stratified into three birthweight groups: less than 1000 g, 1000 g and greater but less than 1500 g, and 1500 g or greater. Reported and new risk factors for PVL were compared with control patients for all patients and each birthweight group. Hypocarbia was significantly related to cystic PVL, especially in infants with birthweight 1000 g or greater (p < 0.03). Sensitivity to hypocarbia might be decreased in infants with birthweight less than 1000 g due to therapy or prematurity. In the group with birthweight less than 1000 g, the proportion of cystic PVL infants on continuous intra-arterial blood-pressure monitoring tended to be lower than the controls, with an almost significant difference (p = 0.05). The duration of tocolysis was significantly longer in the cystic PVL infants than in the controls when the birthweight was greater than 1500 g (p < 0.04). For some risk factors, a significant difference or a tendency of difference was demonstrated only after stratifying the birthweight. For others, the difference became insignificant after stratification. Assessing risk factors after stratifying by birthweight or degree of prematurity is therefore useful. CONCLUSION: The results suggest that hypocarbia should be avoided to prevent cystic PVL, especially in infants with birthweight of 1000 g or greater, continuous intra-arterial blood-pressure monitoring may be important in infants with birthweight less than 1000 g, and fetal status should be monitored carefully when the duration of tocolysis is prolonged, especially in infants with birthweight of 1500 g or more.
Birth Weight↗
[Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression].
A 35-year old Japanese male with adult Sandhoff disease was described, who was presented as a motor neuron disease phenotype with slow progression. At the age of 15, he first noticed weakness in his thigh. At the age of 28, his upper and lower motor neuron disturbances were disclosed. He was diagnosed as atypical amyotrophic lateral sclerosis. At the age of 34, a slight sensory disturbance appeared in the lower extremities. When he was admitted to our hospital, he displayed marked atrophy and weakness in his quadriceps femoris muscles, but no signs of mental deterioration and cerebellar ataxia. Because of the atypical course of motor neuron disease, hexosaminidase activity in peripheral leukocytes was determined. The assay of total hexosaminidase, hexosaminidase A and hexosaminidase B activities demonstrated low levels of these activities (7-15% of controls), leading the diagnosis of Sandoff disease. He was a member of non-consanguineous family, and the abnormal patterns of hexasaminidase activities were different between his father and mother. These data appear to show that he is a compound heterozygote in the locus of the hexosaminidase B gene. This is the first Japanese case of adult Sanhoff disease presented as a motor neuron disease phenotype.
Adult↗
[Clinical and MRI findings in childhood idiopathic intracranial hypertension].
We report here clinical and MRI findings of four children with idiopathic intracranial hypertension (IIH). Their chief complaint was headache. Three patients had papilloedema, and the other one showed the highest cerebrospinal fluid pressure (106 cm H2O) without papilloedema. In two cases, the symptoms disappeared after repeated lumbar punctures. At admission, MRI demonstrated empty sella in all the four cases. Regarding the optic nerves, there were more than two of the following three findings: distension of the perioptic subarachnoid space, vertical tortuosity and elongation of the optic nerve, and flattening of the posterior aspect of the globe. Follow-up MRI showed normalization of sella turtica and/or optic nerve findings in two of the three cases examined. MRI focusing on the optic nerves and pituitary gland may provide important clues for the diagnosis of IIH, especially those without papilloedema.
Adolescent↗
Reduction of p12DOC-1 expression is a negative prognostic indicator in patients with surgically resected oral squamous cell carcinoma.
PURPOSE: p12DOC-1 is a growth suppressor that negatively regulates cyclin-dependent kinase 2 (CDK2) activities. Expression of p12DOC-1 is reduced and/or lost in tumor tissues. The purpose of this study is to correlate in vivo the expression of p12DOC-1 in oral cancer tissues by immunohistochemistry with clinical and pathological parameters. EXPERIMENTAL DESIGN: Twenty-five cases of normal oral mucosa and 127 cases of oral squamous cell carcinomas were evaluated. Patients' charts were reviewed for clinical, pathological, and 10-year survival data. Because p12DOC-1 is a growth suppressor and associates with CDK2, parallel immunostaining was done for proliferating cell nuclear antigen and CDK2 to evaluate cell proliferation and potential correlation with CDK2. RESULTS: Our results showed that strong p12DOC-1 staining was uniformly seen in normal oral mucosa. p12DOC-1 staining was reduced or absent in 81 cases (63.8%) of oral squamous cell carcinomas. Decreased p12DOC-1 staining (<25% of cells stained) correlated with tumor mode of invasion (P = 0.001) and higher proliferating cell nuclear antigen (P = 0.0028) and CDK2 (P = 0.0020) expression. Survival analysis showed significant correlation of low p12DOC-1 expression with the risk of cervical lymph node metastasis (P = 0.001) and patients' 10-year survival status (P = 0.0214). CONCLUSIONS: These results allow us to conclude that reduction of p12DOC-1 protein expression is a frequent event in oral cancers. Intratumor immunohistochemical evaluation of p12DOC-1 expression can be an adjunctive prognostic indicator for patients with oral cancer.
Adult↗
[Four cases of reversible posterior leukoencephalopathy syndrome].
We reported four children cases with reversible posterior leukoencephalopathy syndrome (RPLS). Magnetic resonance imaging (MRI) of the brain demonstrated reversible multiple cortical and subcortical lesions predominant in the occipital region. All patients presented with neurological symptoms associated with hypertension, such as headache, seizures and visual disturbances, which were successfully treated with antihypertensive therapy. Although RPLS is rare in childhood, characteristic lesions on MRI in the hypertensive children should be recognized as manifestations of RPLS. Subsequent clinical management should focus on the treatment of the hypertension and/or its underlying causes.
Adolescent↗