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1.
BMC Psychiatry ; 21(1): 464, 2021 09 23.
Artigo em Inglês | MEDLINE | ID: mdl-34556056

RESUMO

BACKGROUND: Several studies have indicated that self-stigma is associated with depressive symptoms and could be a barrier to recovery in patients with schizophrenia-spectrum disorders. More recently, an association between autistic symptoms and self-stigma was found in schizophrenia-spectrum patients. This study aimed to investigate the association between self-stigma, autistic and depressive symptoms, and recovery in patients with schizophrenia. METHODS: In total, 105 participants were evaluated using the Autism Spectrum Quotient, the Internalized Stigma of Mental Illness Scale, the Quick Inventory of Depressive Symptomatology, and the Recovery Assessment Scale to investigate autistic symptoms, self-stigma, depressive symptoms, and recovery, respectively. The relationship between self-stigma, autistic symptoms, depressive symptoms, and recovery was assessed using structural equation modeling analysis. RESULTS: Impaired attention switching, one symptom of autism, was found to positively affect stereotype endorsement, which negatively influenced recovery through depressive symptoms. Moreover, problems with communication skills negatively affected recovery through depressive symptoms. Concerning self-stigma, stereotype endorsement and perceived discrimination had a negative effect on recovery through depressive symptoms, whereas stigma resistance had a direct negative effect on recovery. CONCLUSIONS: This study may provide meaningful insight into the psychological structure of recovery and could inform effective interventions for patients with schizophrenia-spectrum disorders. This was a cross-sectionally designed study; therefore, further longitudinal studies are needed to identify the causal relationships between self-stigma, autistic and depressive symptoms, and recovery.


Assuntos
Transtorno Autístico , Esquizofrenia , Estudos Transversais , Depressão/complicações , Humanos , Esquizofrenia/complicações , Psicologia do Esquizofrênico , Autoimagem , Estigma Social
2.
Asian J Psychiatr ; 63: 102744, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34325252

RESUMO

BACKGROUND: Monopharmacy with antipsychotics and antidepressants is the first-line treatment for schizophrenia and major depressive disorder (MDD) in most clinical guidelines, while polypharmacy with psychotropic agents in the treatment of schizophrenia is common in clinical practice. There are no detailed data on the prescription patterns for inpatients with mental illness with reliable diagnoses made by treating psychiatrists. METHODS: We gathered prescription data at discharge from 2177 patients with schizophrenia and 1238 patients with MDD from October 2016 to March 2018. RESULTS: The patients with schizophrenia aged between 60 and 79 were prescribed lower doses of antipsychotics and hypnotics/anxiolytics than those aged between 40 and 59. There were significant differences between the prescription rate of antipsychotics in the patients with schizophrenia and that of antidepressants in the patients with MDD. The frequency of concomitant drugs such as anti-Parkinson drugs, anxiolytics/hypnotics and mood stabilizers in the subjects with schizophrenia prescribed antipsychotic polypharmacy was significantly higher than that with monotherapy. For the patients with schizophrenia, olanzapine, risperidone, aripiprazole, quetiapine, and blonanserin were the five most prescribed antipsychotics. For the patients with MDD, mirtazapine, duloxetine, escitalopram, trazodone and sertraline were the five most prescribed antidepressants. CONCLUSIONS: Our results showed the use of high doses of antipsychotics, high percentages of antipsychotic polypharmacy and concurrent use of hypnotics/anxiolytics in patients with schizophrenia. Notably, these data were collected before intensive instruction regarding the guidelines; therefore, we need to assess the change in the prescription pattern post guideline instruction.


Assuntos
Antipsicóticos , Transtorno Depressivo Maior , Esquizofrenia , Adulto , Idoso , Antipsicóticos/uso terapêutico , Transtorno Depressivo Maior/tratamento farmacológico , Humanos , Pessoa de Meia-Idade , Alta do Paciente , Prescrições , Esquizofrenia/tratamento farmacológico
3.
Phys Ther Res ; 24(1): 52-68, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33981528

RESUMO

OBJECTIVE: Early mobilization and rehabilitation has become common and expectations for physical therapists working in intensive care units have increased in Japan. The objective of this study was to establish consensus-based minimum clinical practice standards for physical therapists working in intensive care units in Japan. It also aimed to make an international comparison of minimum clinical practice standards in this area. METHODS: In total, 54 experienced physical therapists gave informed consent and participated in this study. A modified Delphi method with questionnaires was used over three rounds. Participants rated 272 items as "essential/unknown/non-essential". Consensus was considered to be reached on items that over 70% of physical therapists rated as "essential" to clinical practice in the intensive care unit. RESULTS: Of the 272 items in the first round, 188 were deemed essential. In round 2, 11 of the 62 items that failed to reach consensus in round 1 were additionally deemed essential. No item was added to the "essential" consensus in round 3. In total, 199 items were therefore deemed essential as a minimum standard of clinical practice. Participants agreed that 42 items were not essential and failed to reach agreement on 31 others. Identified 199 items were different from those in the UK and Australia due to national laws, cultural and historical backgrounds. CONCLUSIONS: This is the first study to develop a consensus-based minimum clinical practice standard for physical therapists working in intensive care units in Japan.

4.
Pediatr Pulmonol ; 56(7): 2102-2107, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33866691

RESUMO

BACKGROUND: Ventilated neonates with hypoxemic respiratory failure (HRF) may show a ventilation-perfusion (V/Q) mismatch. OBJECTIVE: To evaluate the difference between the Bohr (Vd, Bohr ) and Enghoff (Vd, Enghoff ) dead spaces in infants by using volumetric capnography based on ventilator graphics and capnograms. METHODS: This study enrolled 46 ventilated infants (mean birth weight, 2239 ± 640 g; mean gestational age, 35.5 ± 3.3 weeks). We performed volumetric capnography and calculated Vd, Bohr and Vd, Enghoff when arterial blood sampling was necessary for treatment. According to the oxygenation index (OI) based on the Montreux definition of neonatal acute respiratory distress syndrome, each measurement was classified into the HRF (OI ≥ 4) or control (OI < 4) group. Then, a regression analysis was performed to evaluate the correlation between the OI and the difference between Vd, Enghoff and Vd, Bohr . RESULTS: The median Vd, Enghoff /tidal volume (VT ) was significantly higher in the HRF group (0.55 [interquartile range, 0.47-0.68]) than in the control group (0.46 [0.37-0.57]). The HRF group showed a larger difference between Vd, Enghoff /VT and Vd, Bohr /VT than the control group (median, 0.22 [0.15-0.29] vs. 0.10 [0.06-0.14], respectively). Moreover, the regression analysis of the relationship between OI and Vd, Enghoff /VT - Vd, Bohr /VT showed a positive correlation (r = .60, p < .001). CONCLUSION: Ventilated neonates with hypoxemic respiratory failure showed a large difference between Vd, Enghoff and Vd, Bohr , possibly reflecting a low V/Q mismatch and right-to-left shunting.

5.
Front Psychiatry ; 12: 631475, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33762978

RESUMO

Recent evidence has indicated that the disruption of oligodendrocytes may be involved in the pathogenesis of depression. Genetic factors are likely to affect trait factors, such as characteristics, rather than state factors, such as depressive symptoms. Previously, a negative self-schema had been proposed as the major characteristic of constructing trait factors underlying susceptibility to depression. Thus, the association between a negative self-schema and the functional single nucleotide polymorphism (SNP) rs1059004 in the OLIG2 gene, which influences OLIG2 gene expression, white matter integrity, and cerebral blood flow, was evaluated. A total of 546 healthy subjects were subjected to genotype and psychological evaluation using the Beck Depression Inventory-II (BDI-II) and the Brief Core Schema Scale (BCSS). The rs1059004 SNP was found to be associated with the self-schema subscales of the BCSS and scores on the BDI-II in an allele dose-dependent manner, and to have a predictive impact on depressive symptoms via a negative-self schema. The results suggest the involvement of a genetic factor regulating oligodendrocyte function in generating a negative-self schema as a trait factor underlying susceptibility to depression.

6.
Eur J Pediatr ; 180(1): 241-246, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32748016

RESUMO

Hypercapnia occurs in ventilated infants even if tidal volume (VT) and minute ventilation (VE) are maintained. We hypothesised that increased physiological dead space (Vd,phys) caused decreased minute alveolar ventilation (VA; alveolar ventilation (VA) × respiratory rate) in well-ventilated infants with hypercapnia. We investigated the relationship between dead space and partial pressure of carbon dioxide (PaCO2) and assessed VA. Intubated infants (n = 33; mean birth weight, 2257 ± 641 g; mean gestational age, 35.0 ± 3.3 weeks) were enrolled. We performed volumetric capnography (Vcap), and calculated Vd,phys and VA when arterial blood sampling was necessary. PaCO2 was positively correlated with alveolar dead space (Vd,alv) (r = 0.54, p < 0.001) and Vd,phys (r = 0.48, p < 0.001), but not Fowler dead space (r = 0.14, p = 0.12). Normocapnia (82 measurements; 35 mmHg ≤ PaCO2 < 45 mmHg) and hypercapnia groups (57 measurements; 45 mmHg ≤ PaCO2) were classified. The hypercapnia group had higher Vd,phys (median 0.57 (IQR, 0.44-0.67)) than the normocapnia group (median Vd,phys/VT = 0.46 (IQR, 0.37-0.58)], with no difference in VT. The hypercapnia group had lower VA (123 (IQR, 87-166) ml/kg/min) than the normocapnia group (151 (IQR, 115-180) ml/kg/min), with no difference in VE.Conclusion: Reduction of VA in well-ventilated neonates induces hypercapnia, caused by an increase in Vd,phys. What is Known: • Volumetric capnography based on ventilator graphics and capnograms is a useful tool in determining physiological dead space of ventilated infants and investigating the cause of hypercapnia. What is New: • This study adds evidence that reduction in minute alveolar ventilation causes hypercapnia in ventilated neonates.


Assuntos
Hipercapnia , Síndrome do Desconforto Respiratório , Dióxido de Carbono , Humanos , Lactente , Respiração Artificial/efeitos adversos , Espaço Morto Respiratório , Volume de Ventilação Pulmonar
7.
Neuropsychiatr Dis Treat ; 16: 2553-2561, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33154642

RESUMO

Purpose: Self-stigma negatively influences self-esteem, quality of life, self-efficacy, treatment adherence, and recovery in psychiatric patients. By revealing personality traits that influence self-stigma, we can gain useful knowledge for the management of self-stigma. A previous meta-analysis indicated that patients with schizophrenia have higher scores on the Autism-Spectrum Quotient (AQ) than healthy controls. However, the relationship between autistic symptoms and self-stigma in patients with schizophrenia spectrum disorders remains unclear. Therefore, the present study aimed to reveal the association between autistic symptoms and self-stigma in patients with schizophrenia spectrum disorders. Patients and Methods: We recruited 127 patients with schizophrenia spectrum disorders (schizophrenia, schizoaffective disorder, and delusional disorder). We assessed participants' self-stigma and autistic symptoms using the Internalized Stigma for Mental Illness (ISMI) scale and the Autism-Spectrum Quotient (AQ), respectively. The differences in the scores of ISMI and AQ according to patient characteristics were investigated. Multiple regression analysis controlling for age and gender was performed to determine the relationship between the total scores on the AQ and IMSI scale. Results: Female patients showed a higher level of self-stigma than males. Unmarried patients showed a significantly higher score on the AQ than married patients. Multiple regression analysis adjusted for age and gender indicated that the total score on AQ might be a predictor of the overall rating on ISMI in patients with schizophrenia spectrum disorders. Conclusion: This study is the first to reveal the association between autistic symptoms and self-stigma in patients with schizophrenia spectrum disorders. Our results highlight the importance of considering autistic symptoms in the assessment and management of self-stigma in patients with schizophrenia spectrum disorders.

8.
Psychiatry Clin Neurosci ; 74(12): 667-669, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32881226
10.
Schizophr Bull ; 46(6): 1619-1628, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-32285113

RESUMO

Previous studies have indicated associations between several OLIG2 gene single-nucleotide polymorphisms (SNPs) and susceptibility to schizophrenia among Caucasians. Consistent with these findings, postmortem brain and diffusion tensor imaging studies have indicated that the schizophrenia-risk-associated allele (A) in the OLIG2 SNP rs1059004 predicts lower OLIG2 gene expression in the dorsolateral prefrontal cortex (DLPFC) of schizophrenia patients and reduced white matter (WM) integrity of the corona radiata in normal brains among Caucasians. In an effort to replicate the association between this variant and WM integrity among healthy Japanese, we found that the number of A alleles was positively correlated with WM integrity in some fiber tracts, including the right posterior limb of the internal capsule, and with mean blood flow in a widespread area, including the inferior frontal operculum, orbital area, and triangular gyrus. Because the A allele affected WM integrity in opposite directions in Japanese and Caucasians, we investigated a possible association between the OLIG2 gene SNPs and the expression level of OLIG2 transcripts in postmortem DLPFCs. We evaluated rs1059004 and additional SNPs in the 5' upstream and 3' downstream regions of rs1059004 to cover the broader region of the OLIG2 gene. The 2 SNPs (rs1059004 and rs9653711) had opposite effects on OLIG2 gene expression in the DLPFC in Japanese and Caucasians. These findings suggest ethnicity-dependent opposite effects of OLIG2 gene SNPs on WM integrity and OLIG2 gene expression in the brain, which may partially explain the failures in replicating associations between genetic variants and psychiatric phenotypes among ethnicities.

11.
Neonatology ; 117(2): 189-192, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31825947

RESUMO

BACKGROUND: Few studies have reported the measurement of anatomical dead space (Vd,an) and alveolar tidal volume (VA) in ventilated neonates with respiratory distress. OBJECTIVE: The aim of this study was to determine the differences in Vd,an and VA in ventilated infants between the early and recovery phases of respiratory distress using volumetric -capnography (Vcap) based on ventilator graphics and capnograms. METHODS: This study enrolled twenty-five ventilated infants (mean birth weight, 2,220 ± 635 g; mean gestational age, 34.7 ± 3.3 weeks). We adjusted respiratory settings to maintain appropriate oxygenation and tidal volume (VT), and performed Vcap based on waveforms of ventilator graphics and capnograms. Vd,an and VAwere measured in infants with respiratory disorders, immediately after intubation (early phase) and subsequently when they were clinically stable (recovery phase). RESULTS: The early phase, with lower dynamic lung compliance, required a higher level of ventilator support, not positive end-expiratory pressure, than the recovery phase. There were significant differences between the early and recovery phases for Vd,an (mean difference in Vd,an/kg = 0.57 mL/kg; 95% confidence interval [CI], 0.38-0.77; mean difference in Vd,an/VT = 0.10; 95% CI, 0.07-0.14) and VA (mean difference in VA/kg = -0.60 mL/kg; 95% CI, -0.94 to -0.27; mean difference in VA/VT = -0.12; 95% CI, -0.15 to -0.09), despite no difference in VT. CONCLUSIONS: We evaluated changes in Vd,an and VA during mechanical ventilation using Vcap based on waveforms. The increase in Vd,an and decrease in VA suggested dilation of the airways and collapse of the alveoli in ventilated infants with low lung compliance.


Assuntos
Síndrome do Desconforto Respiratório , Adulto , Capnografia , Dióxido de Carbono , Humanos , Lactente , Recém-Nascido , Respiração Artificial , Espaço Morto Respiratório , Volume de Ventilação Pulmonar
12.
BMJ Case Rep ; 12(7)2019 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-31308192

RESUMO

Alport syndrome (AS) is an inherited kidney disease that may lead to end-stage renal disease in early adult life. It is a clinically and genetically heterogeneous nephropathy. The possibility of a patient with haematuria or proteinuria being diagnosed as having AS cannot be excluded even if the patient is female or if the family history is unknown. We report a 3-year-old girl with a de novo frameshift mutation, c.3906delA p.(Gly1303Aspfs*17), in the COL4A5 gene. The significance of the electron microscopic study on the glomerular basement membrane must be emphasised because it is the first step towards the diagnosis of AS. Genetic analysis provides the only conclusive diagnosis of AS, by determining the mode of inheritance and prognosis.


Assuntos
Colágeno Tipo IV/genética , Mutação da Fase de Leitura/genética , Nefrite Hereditária/diagnóstico , Pré-Escolar , Feminino , Membrana Basal Glomerular/ultraestrutura , Hematúria/genética , Heterozigoto , Humanos , Microscopia Eletrônica , Nefrite Hereditária/genética , Proteinúria/genética
13.
Hum Genome Var ; 6: 13, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30911400

RESUMO

Hypomagnesemia 1 (HOMG1) is an extremely rare disease with autosomal recessive inheritance that is caused by mutations in the transient receptor potential melastatin 6 gene (TRPM6). Here, we describe a pediatric HOMG1 case with novel compound heterozygous mutations of TRPM6 (c.1483 C > T [p.Gln495*] and c.2715del [p.Trp905*]) in a 2-month-old boy who developed refractory seizures due to hypomagnesemia with secondary hypocalcemia.

14.
Gen Thorac Cardiovasc Surg ; 67(5): 427-435, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30484062

RESUMO

OBJECTIVES: We investigated the hypothesis that early surgery for infective endocarditis (IE) attenuates the rate of death or embolic events and does not increase the rate of relapse or postoperative valvular dysfunction (PVD) at 6 months. METHODS: 21 consecutive patients who underwent surgical treatment of IE were prospectively included. We assessed 6-month postoperative clinical outcomes by comparing early surgery (Group E, surgery within 72 h) and conventional treatment (Group C). Nine patients (43%) were assigned to Group E based on a combination of preoperative evaluation parameters, including the findings of cerebral magnetic resonance imaging (MRI), which was performed in all patients with left-sided IE. RESULTS: Six surgical plans (5 advancements and 1 postponement) were modified by routine MRI. Although preoperative echocardiography did not confirm all annular invasions, the rate of periannular infection, which was treated by pericardial annular patch plasty (56%) in patients with native-valve IE, was higher in Group E than C (P = 0.006). Early surgery based on MRI findings resulted in no postoperative embolic events or cerebral bleeding. The 6-month mortality rate was 0% in both groups, although the calculated 6-month IE mortality rate was 49.2 ± 25% and 28.8 ± 18%, respectively. No recurrence of IE or PVD occurred in Group E. The 6-month rate of freedom from composite events was 100% in Group E. CONCLUSIONS: Aggressive treatment (periannular resection and disuse of a prosthetic annuloplasty ring) and optimal antibiotic therapy based on intraoperative microorganisms, even in patients who underwent early surgery, reduced the 6-month relapse and PVD rates.


Assuntos
Infarto Cerebral/diagnóstico por imagem , Endocardite Bacteriana/cirurgia , Embolia Intracraniana/diagnóstico por imagem , Hemorragias Intracranianas/diagnóstico por imagem , Imageamento por Ressonância Magnética , Adulto , Idoso , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Infarto Cerebral/etiologia , Infarto Cerebral/prevenção & controle , Ecocardiografia , Ecocardiografia Transesofagiana , Endocardite Bacteriana/diagnóstico por imagem , Endocardite Bacteriana/mortalidade , Feminino , Próteses Valvulares Cardíacas/efeitos adversos , Humanos , Embolia Intracraniana/etiologia , Embolia Intracraniana/prevenção & controle , Hemorragias Intracranianas/etiologia , Hemorragias Intracranianas/prevenção & controle , Masculino , Pessoa de Meia-Idade , Cuidados Pré-Operatórios , Estudos Retrospectivos
15.
BMC Psychiatry ; 18(1): 141, 2018 05 21.
Artigo em Inglês | MEDLINE | ID: mdl-29783976

RESUMO

BACKGROUND: Multiple system atrophy (MSA) is an adult-onset, rare, and progressive neurodegenerative disorder characterized by a varying combination of autonomic failure, cerebellar ataxia, and parkinsonism. MSA is categorized as MSA-P with predominant parkinsonism, and as MSA-C with predominant cerebellar features. The prevalence of MSA has been reported to be between 1.86 and 4.9 cases per 100,000 individuals. In contrast, approximately 1% of the population is affected by schizophrenia during their lifetime; therefore, MSA-P comorbidity is very rare in schizophrenic patients. However, when the exacerbation or progression of parkinsonism occurs in patients with schizophrenia treated with antipsychotics, it is necessary to consider rare neurodegenerative disorders, including MSA-P, in the differential diagnosis of parkinsonism. CASE PRESENTATION: A 60-year-old female patient with chronic schizophrenia developed possible MSA-P. She had been treated mainly with typical antipsychotics, and presented with urinary incontinence, nocturnal polyuria, and dysarthria around 2011. In 2014, she developed worsening parkinsonian symptoms and autonomic dysfunction. Although her antipsychotic medication was switched to an atypical antipsychotic and the dose reduced, her parkinsonism was not improved. In 2015, modified electroconvulsive therapy produced slight improvements in the symptoms; however, she shortly returned to her symptomatic state. A combination of cardiac 123I-meta-iodobenzylguanidine scintigraphy and 123I-FP-CIT single-photon emission computed tomography imaging, in addition to brain magnetic resonance imaging findings, helped to discriminate MSA-P from other sources of parkinsonism. L-dopa had been prescribed, but she responded poorly and died in the spring of 2016. CONCLUSIONS: This case report highlights the importance of considering MSA-P in the differential diagnosis for parkinsonism in a patient being treated with antipsychotics for chronic schizophrenia. MSA-P should be considered in patients presenting with worsening and progressing parkinsonism, especially when accompanied by autonomic dysfunction or cerebellar ataxia. Although a definite diagnosis of MSA-P requires autopsy confirmation, a combination of brain magnetic resonance imaging and nuclear medicine scans may help to differentiate suspected MSA-P from the other parkinsonian syndromes. This case also demonstrates that MSA with parkinsonism that is poorly responsive to L-dopa may improve shortly after modified electroconvulsive therapy without worsening psychiatric symptoms.


Assuntos
Atrofia de Múltiplos Sistemas/diagnóstico , Transtornos Parkinsonianos/diagnóstico , Esquizofrenia/complicações , Cerebelo/patologia , Comorbidade , Diagnóstico Diferencial , Progressão da Doença , Feminino , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/psicologia , Transtornos Parkinsonianos/psicologia , Esquizofrenia/patologia , Tomografia Computadorizada de Emissão de Fóton Único
16.
Clin Exp Nephrol ; 22(6): 1437-1438, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29549454

RESUMO

Unique radiologic features of Ask-Upmark kidney were reported. A contrast-enhanced computed tomography showed lobulated cortical thinning. Renal dimercaptosuccinic acid scan revealed isolated circular accumulations mimicking accessory kidneys. Our case indicates that the pathogenesis of this condition is most likely related to developmental anomalies.


Assuntos
Rim/anormalidades , Criança , Humanos , Rim/diagnóstico por imagem , Masculino , Tomografia Computadorizada por Raios X , Ultrassonografia
17.
Int J Hematol ; 104(6): 741-743, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27544511

RESUMO

We report the first patient to develop ALL with a fusion gene of the erythropoietin receptor (EPOR) with immunoglobulin heavy chain (IgH) 22 years after a diagnosis of secondary erythrocytosis with unknown etiology. The IgH-EPOR rearrangement is known to induce increased expression of EPOR, and activates EPO-associated signal pathways by exogenous EPO stimulation, resulting in the increased proliferation and survival of IgH-EPOR-positive leukemic cells. Interestingly, this case may provide supporting the possibility that IgH-EPOR-positive ALL has a growth advantage under sustained high concentrations of EPO.


Assuntos
Cadeias Pesadas de Imunoglobulinas/genética , Policitemia/complicações , Policitemia/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Receptores da Eritropoetina/genética , Criança , Fusão Gênica , Humanos , Masculino
18.
Pediatr Int ; 58(10): 979-983, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26865117

RESUMO

BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acid caused by mutations in solute carrier family 7 amino acid transporter light chain, y+ L system, member 7 (SLC7A7). This disorder occurs worldwide, especially in Finland and Japan, where founder effect mutations have been reported. Detailed features of the clinical symptoms and mutation types in Japanese LPI, however, remain unclear to date. METHODS: An epidemiological nationwide survey of LPI patients was carried out via mail to all domestic university and general hospitals in Japan. Next, the clinical information for each LPI patient was obtained, in the form of a questionnaire, from the attending physicians who replied to the letters. RESULTS: We received answered questionnaires for 43 LPI patients in 19 hospitals. We selected 35 patients who were genetically diagnosed with LPI. The most common clinical manifestations were with protein aversion, ferritinemia, increased serum lactate dehydrogenase, and hyperammonemia. The most frequent SLC7A7 mutation in Japanese LPI patients is p.R410*, which is a founder effect mutation in northern Japan. In total, nine types of mutation were detected in this survey, six of which (p.R410*, p.S238F, c.1630delC, p.S489P, c.1673delG, and IVS3-IVS5del9.7 kb) have not been reported in other countries. CONCLUSION: The clinical and genetic features of 35 Japanese patients with LPI were characterized, and no correlation between genotype and phenotype was observed. The importance of early diagnosis for better prognosis of LPI is emphasized.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Sistema y+ de Transporte de Aminoácidos/genética , DNA/genética , Mutação , Adolescente , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Sistema y+ de Transporte de Aminoácidos/metabolismo , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Incidência , Lactente , Recém-Nascido , Japão/epidemiologia , Masculino , Fenótipo , Adulto Jovem
19.
Circ J ; 78(10): 2468-76, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25109426

RESUMO

BACKGROUND: Fractional flow reserve (FFR) measured on catheterization is now widely used for the diagnosis of functional myocardial ischemia in patients with coronary artery disease (CAD). FFR, however, is invasive and carries potential procedural complications. Therefore, the aim of this study was to compare the diagnostic capability in functionally significant stenosis identified on FFR, between cardiac magnetic resonance myocardial perfusion imaging (CMR-MPI), single-photon emission computed tomography MPI (SPECT-MPI), and dobutamine stress echocardiography (DSE) in patients with CAD. METHODS AND RESULTS: A total of 25 patients who had at least 1 angiographic stenosis ≥50% on coronary angiography was studied. CMR-MPI, SPECT-MPI and DSE were done before FFR measurement. FFR was measured in all 3 major epicardial coronary arteries. Out of 71 vascular territories excluding 4 territories due to inadequate imaging, 29 (41%) had FFR <0.80. The sensitivity of CMR-MPI was significantly higher than that of SPECT-MPI and DSE (P=0.02 and P=0.001, respectively). The area under the receiver operating characteristic curve (AUC) for CMR-MPI (AUC, 0.92) was significantly greater than for SPECT-MPI (AUC, 0.73; P=0.006) and DSE (AUC, 0.69; P<0.001). CONCLUSIONS: CMR-MPI performed well in the detection of functionally significant stenosis defined according to FFR, and had the highest diagnostic sensitivity among the 3 modalities tested in patients with CAD.


Assuntos
Doença da Artéria Coronariana/diagnóstico , Estenose Coronária/diagnóstico , Ecocardiografia sob Estresse/métodos , Angiografia por Ressonância Magnética/métodos , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
20.
PLoS One ; 7(11): e48329, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23144864

RESUMO

Detection of microRNAs, small noncoding single-stranded RNAs, is one of the key topics in the new generation of cancer research because cancer in the human body can be detected or even classified by microRNA detection. This report shows rapid and sensitive microRNA detection using a power-free microfluidic device, which is driven by degassed poly(dimethylsiloxane), thus eliminating the need for an external power supply. MicroRNA is detected by sandwich hybridization, and the signal is amplified by laminar flow-assisted dendritic amplification. This method allows us to detect microRNA of specific sequences at a limit of detection of 0.5 pM from a 0.5 µL sample solution with a detection time of 20 min. Together with the advantages of self-reliance of this device, this method might contribute substantially to future point-of-care early-stage cancer diagnosis.


Assuntos
MicroRNAs/genética , Técnicas Analíticas Microfluídicas/instrumentação , Técnicas de Diagnóstico Molecular/instrumentação , Sequência de Bases , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/isolamento & purificação , Calibragem , Sondas de DNA/genética , Humanos , Limite de Detecção , MicroRNAs/isolamento & purificação , Neoplasias/diagnóstico , Sistemas Automatizados de Assistência Junto ao Leito , Razão Sinal-Ruído
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