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Truncus Arteriosus (TA) is a congenital heart disease characterized by a single common blood vessel emerging from the right and left ventricles instead of the main pulmonary artery and aorta. TA accounts for 4% of all critical congenital heart diseases. The most common cause of TA is 22q11.2 deletion syndrome, accounting for 12-35% of all TA cases. However, no major causes of TA other than 22q11.2 deletion have been reported. We performed whole-genome sequencing of 11 Japanese patients having TA without 22q11.2 deletion. Among five patients, we identified pathogenic variants in TMEM260; the biallelic loss-of-function variants of which have recently been associated with structural heart defects and renal anomalies syndrome (SHDRA). In one patient, we identified a de novo pathogenic variant in GATA6, and in another patient, we identified a de novo probably pathogenic variant in NOTCH1. Notably, we identified a prevalent variant in TMEM260 (ENST00000261556.6), c.1617del (p.Trp539Cysfs*9), in 8/22 alleles among the 11 patients. The c.1617del variant was estimated to occur approximately 23 kiloyears ago. Based on the allele frequency of the c.1617del variant in the Japanese population (0.36%), approximately 26% of Japanese patients afflicted with TA could harbor homozygous c.1617del variants. This study highlights TMEM260, especially c.1617del, as a major genetic cause of TA in the Japanese population.
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Síndrome de DiGeorge , Proteínas de Membrana , Feminino , Humanos , Masculino , Alelos , Síndrome de DiGeorge/genética , População do Leste Asiático/genética , Japão/epidemiologia , Proteínas de Membrana/genética , Receptor Notch1/genética , Tronco Arterial/patologia , Sequenciamento Completo do GenomaRESUMO
We investigate a physical characterization of the gradient flow structure of variational fracture models for brittle materials: a Griffith-type fracture model and an irreversible fracture phase field model. We derive the Griffith-type fracture model by assuming that the fracture energy in Griffith's theory is an increasing function of the crack tip velocity. Such a velocity dependence of the fracture energy is typically observed in polymers. We also prove an energy dissipation identity of the Griffith-type fracture model, in other words, its gradient flow structure. On the other hand, the irreversible fracture phase field model is derived as a unidirectional gradient flow of a regularized total energy. We have considered the time relaxation parameter a mathematical approximation parameter, which we should choose as small as possible. In this research, however, we reveal the physical origin of the gradient flow structure of the fracture phase field model (F-PFM) and show that the small time relaxation parameter is characterized as the rate of velocity dependence of the fracture energy. It is verified by comparing the energy dissipation properties of those two models and by analysing a travelling wave solution of the irreversible F-PFM. This article is part of the theme issue 'Non-smooth variational problems with applications in mechanics'.
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We aimed to clarify the long-term outcomes and prognosis of vocal cord paralysis (VCP) after cardiothoracic surgery in infants as well as the usefulness of laryngeal ultrasound (LUS) as screening for VCP. Overall, 967 infants aged 1-year-old or younger who underwent cardiothoracic surgery between 2008 and 2022 were included in this study. We divided the patients into two groups based on the period on whether they underwent screening without or with LUS and compared the incidence of VCP between the groups. There were no differences in the patients' preoperative characteristics between the two periods, whereas the incidence of VCP was significantly higher in period 2 than in period 1 (11.0% vs. 3.2%, p < 0.0001). The incidence of VCP among the procedures, including aortic arch repair, was > 50% and significantly increased from period 1 to period 2. The sensitivity and specificity of LUS was 87% and 90%, respectively. Symptoms of VCP improved in 92% of patients. Repeated flexible laryngoscopy revealed that the residual rate of VCP was 68%, 52%, and 48% at 6, 12, and 24 months, respectively. In conclusion, symptoms of postoperative VCP improved in most cases; however, paralysis persisted in half of the patients. As a screening method, LUS is useful for evaluating postoperative VCP. A more accurate understanding of VCP is needed to improve postoperative outcomes.
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Laringe , Paralisia das Pregas Vocais , Lactente , Humanos , Paralisia das Pregas Vocais/epidemiologia , Paralisia das Pregas Vocais/etiologia , Laringoscopia/efeitos adversos , Prognóstico , Aorta Torácica , Estudos RetrospectivosRESUMO
BACKGROUND: Laser hair removal (LHR) is one of the most requested cosmetic procedures worldwide. A rare side effect is the appearance of excess hair around previously treated areas, known as paradoxical hypertrichosis. OBJECTIVES: The aim of this study was to retrospectively identify the cause of this side effect. METHODS: This study included all patients who underwent LHR at our center between November 2018 and November 2020. Alexandrite laser hair removal (HR) or diode laser super hair removal (SHR) was performed in 70% and 30% of cases, respectively. Clinical features and daily habits of patients with and without postlaser hypertrichosis were compared. RESULTS: Of the 7381 patients who received LHR, 25 patients (0.34%) demonstrated an increase in hair growth compared to baseline. Of these 25 patients, 24 had been treated with alexandrite laser HR (P < .01). The most common site was the upper arm, followed by the periareolar area. Daily sun protection was associated with a significantly lower incidence of hypertrichosis (P < .05), as was confirmed and shown to be independent of Fitzpatrick skin type by binary logistic regression analysis (odds ratio = 0.41, P < .05). CONCLUSIONS: In our clinic, we observed paradoxical hypertrichosis after laser hair removal in a small minority of cases, as described by others. We did not observe differences in incidence related to skin type, but daily sun protection and LHR with diode laser SHR were associated with significant reductions in incidence rates. In addition to previously reported common sites, we also identified the periareolar area as a high-risk region.
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Remoção de Cabelo , Hipertricose , Terapia a Laser , Humanos , Hipertricose/epidemiologia , Hipertricose/etiologia , Remoção de Cabelo/efeitos adversos , Remoção de Cabelo/métodos , Estudos Retrospectivos , Extremidade Superior , Lasers , Terapia a Laser/efeitos adversosRESUMO
People need to adapt to situations where they experience sequential benefits (or losses) to ensure survival. This study investigated the neural substrates involved in judgments of sequential benefits and losses. A total of 29 healthy volunteers participated in this study, in which they were asked to participate in a game of purchasing stocks while a magnetic resonance imaging scan was performed. This game had two main types of trials: (1) participants received four sequential financial benefits (or losses), and (2) participants received an equal amount of benefits (or losses) immediately. The results showed greater activation of the orbitofrontal cortex (OFC) when four benefits were received sequentially than when an equal amount of benefits was received immediately. This indicates that the OFC plays a crucial role in the process of mental integration of sequential benefits and interpretation of their valuations. It also showed greater activation of the dorsal striatum when four sequental losses were received than when an equal amount of losses was received immediately. However, it cannot be concluded that activation of the dorsal striatum reflects the differences between sequential and immediate losses, because previous studies have not confirmed this perspective. Therefore, it is necessary to clarify the function of the striatum in processing these losses.
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Julgamento , Córtex Pré-Frontal , Humanos , Julgamento/fisiologia , Córtex Pré-Frontal/diagnóstico por imagem , Córtex Pré-Frontal/fisiologia , Imageamento por Ressonância Magnética , Mapeamento EncefálicoRESUMO
BACKGROUND: Little is known about clinical or sociodemographic factors that influence health-related quality of life (HRQoL) in patients with adult congenital heart disease (ACHD).MethodsâandâResults: We conducted a nationwide prospective cross-sectional multicenter study at 4 large ACHD centers in Japan. From November 2016 to June 2018, we enrolled 1,223 ACHD patients; 1,025 patients had an HRQoL score. Patients completed a questionnaire survey, including sociodemographic characteristics, and the 36-Item Short-Form Health Survey (SF-36). To determine factors associated with HRQoL, correlations between 2 SF-36 summary scores (i.e., physical component score [PCS] and mental component score [MCS]) and other clinical or sociodemographic variables were examined using linear regression analysis. In multivariable analysis, poorer PCS was significantly associated with 11 variables, including older age, higher New York Heart Association class, previous cerebral infarction, being unemployed, and limited participation in physical education classes and sports clubs. Poorer MCS was associated with congenital heart disease of great complexity, being part of a non-sports club, current smoking, and social drinking. Student status and a higher number of family members were positively correlated with MCS. CONCLUSIONS: This study demonstrates that HRQoL in ACHD patients is associated with various clinical and sociodemographic factors. Further studies are needed to clarify whether some of these factors could be targets for future intervention programs to improve HRQoL outcomes.
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Cardiopatias Congênitas , Qualidade de Vida , Adulto , Humanos , Estudos Transversais , Estudos Prospectivos , Fatores Sociodemográficos , Inquéritos e Questionários , JapãoRESUMO
The Database of Genotypes and Phenotypes (dbGap, http://www.ncbi.nlm.nih.gov/gap) is a National Institutes of Health-sponsored repository charged to archive, curate and distribute information produced by studies investigating the interaction of genotype and phenotype. Information in dbGaP is organized as a hierarchical structure and includes the accessioned objects, phenotypes (as variables and datasets), various molecular assay data (SNP and Expression Array data, Sequence and Epigenomic marks), analyses and documents. Publicly accessible metadata about submitted studies, summary level data, and documents related to studies can be accessed freely on the dbGaP website. Individual-level data are accessible via Controlled Access application to scientists across the globe.
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Bases de Dados Genéticas , Genótipo , Fenótipo , Humanos , Internet , National Library of Medicine (U.S.) , Estados UnidosRESUMO
We describe the case of a 7-year-old girl with a single coronary artery. The coronary artery passed between the ascending aorta and pulmonary artery, and an aberrant vessel ran anterior to the latter.
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Aorta/diagnóstico por imagem , Anomalias dos Vasos Coronários/diagnóstico por imagem , Vasos Coronários/diagnóstico por imagem , Artéria Pulmonar/diagnóstico por imagem , Malformações Vasculares/diagnóstico por imagem , Cateterismo Cardíaco , Criança , Angiografia Coronária , Diabetes Mellitus Tipo 1 , Ecocardiografia , Feminino , Humanos , Tomografia Computadorizada por Raios XRESUMO
Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations in the preaxial radial ray and cardiac septation and/or a conduction abnormality. It has been demonstrated that Holt-Oram syndrome is caused by mutations in the T-box transcription factor gene TBX5. Numerous germline mutations (more than 90) of this gene have been reported; however, TBX5 mutations are only identified in up to 74% of typical Holt-Oram syndrome patients. We report a Japanese family with 2 affected individuals with the typical Holt-Oram syndrome phenotype, namely bilateral asymmetrical radial ray deformities and an atrial septal defect. An array-based comparative genomic hybridization study revealed an 11-kb duplication at 12q24.1. Moreover, a multiplex ligation-dependent probe amplification study confirmed the duplication of exons 1-6 of TBX5. Although a small duplication in TBX5 (6 bases) has been reported, a large duplication of this gene has not been described previously in typical Holt-Oram syndrome patients. All typical Holt-Oram syndrome cases in which a mutation is not identified should be screened for TBX5 exon duplications.
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Anormalidades Múltiplas/genética , Cardiopatias Congênitas/genética , Comunicação Interatrial/genética , Deformidades Congênitas das Extremidades Inferiores/genética , Proteínas com Domínio T/genética , Deformidades Congênitas das Extremidades Superiores/genética , Criança , Eletrocardiografia , Humanos , Japão , Masculino , Linhagem , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The present study investigated the effect of optimistic bias on help-seeking intentions and behaviors in relation to health care professionals and nonprofessionals for depressive symptoms. In addition, the study tested the hypothesis that seeking help from professionals poses a greater threat for self-esteem than from non-professionals. A questionnaire survey (N = 462) using clinical vignettes was conducted with university students. The results suggested that optimistic bias had an impact on help-seeking intentions and behaviors directed towards both health care professionals and nonprofessionals. There seemed to be a relatively stronger threat to self-esteem in help-seeking involving nonprofessionals and a weaker threat in help-seeking involving professionals, contrary to previous studies. The results were explained by the threat to self-esteem and equity theories. Understanding the rationale of optimistic bias and symptom recognition in the help-seeking process may provide relevant information to bridge the service gap in the treatment of depression.
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Viés , Depressão/terapia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Autoimagem , Atitude Frente a Saúde , Feminino , Humanos , Intenção , Masculino , Estudantes/psicologia , Inquéritos e Questionários , Adulto JovemRESUMO
It is often observed that thermal stress enhances crack propagation in materials, and, conversely, crack propagation can contribute to temperature shifts in materials. In this study, we first consider the thermoelasticity model proposed by M. A. Biot and study its energy dissipation property. The Biot thermoelasticity model takes into account the following effects. Thermal expansion and contraction are caused by temperature changes, and, conversely, temperatures decrease in expanding areas but increase in contracting areas. In addition, we examine its thermomechanical properties through several numerical examples and observe that the stress near a singular point is enhanced by the thermoelastic effect. In the second part, we propose two crack propagation models under thermal stress by coupling a phase field model for crack propagation and the Biot thermoelasticity model and show their variational structures. In our numerical experiments, we investigate how thermal coupling affects the crack speed and shape. In particular, we observe that the lowest temperature appears near the crack tip, and the crack propagation is accelerated by the enhanced thermal stress.
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The authors were not aware of typographical errors made in the writing phase, and, hence, wish to make the following corrections to the original paper [...].
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Kawasaki disease (KD) is a systemic vasculitis syndrome that mostly affects children under 4 years old. Among the reported KD cases, only 1% were over 10 years old. We herein report 2 cases of adult-onset KD (AKD) in 19- and 17-year-old boys diagnosed with a persistent fever and cervical lymphadenitis. Both patients showed cardiac complications, such as coronary artery dilation and myocarditis. Repeated intravenous immunoglobulin therapy was effective in the 19-year-old, while plasma exchange therapy was needed for the 17-year-old, with no sequelae noted at discharge. KD should be considered as a differential diagnosis for persistent fever in adults.
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Aneurisma Coronário , Linfadenite , Síndrome de Linfonodos Mucocutâneos , Masculino , Criança , Adulto , Humanos , Pré-Escolar , Adulto Jovem , Adolescente , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/terapia , Imunoglobulinas Intravenosas/uso terapêutico , Aneurisma Coronário/complicações , Linfadenite/complicações , Vasos CoronáriosRESUMO
Identifying relevant studies and harmonizing datasets are major hurdles for data reuse. Common Data Elements (CDEs) can help identify comparable study datasets and reduce the burden of retrospective data harmonization, but they have not been required, historically. The collaborative team at PhenX and dbGaP developed an approach to use PhenX variables as a set of CDEs to link phenotypic data and identify comparable studies in dbGaP. Variables were identified as either comparable or related, based on the data collection mode used to harmonize data across mapped datasets. We further added a CDE data field in the dbGaP data submission packet to indicate use of PhenX and annotate linkages in the future. Some 13,653 dbGaP variables from 521 studies were linked through PhenX variable mapping. These variable linkages have been made accessible for browsing and searching in the repository through dbGaP CDE-faceted search filter and the PhenX variable search tool. New features in dbGaP and PhenX enable investigators to identify variable linkages among dbGaP studies and reveal opportunities for cross-study analysis.
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Coleta de Dados , Conjuntos de Dados como Assunto , Estudos RetrospectivosRESUMO
BACKGROUND: Bronchopulmonary dysplasia (BPD) is a chronic respiratory disease that occurs in premature infants and the prognosis is variable depending on the comorbidities including fibrosis, emphysema, or pulmonary hypertension (PH). We present a case of a 9-year-old girl who developed PH associated with severe BPD (BPD-PH) and underwent bilateral lung transplantation (BLTx). Case description A 9-year-old girl was admitted to our department to undergo BLTx. She was born at 23 weeks and 4 days gestation with a weight of 507 g. She received ventilation for the first 2 months and required further respiratory care due to repetitive, severe respiratory infections. She was diagnosed with BPD-PH at 6 months of age and oral administration of pulmonary vasodilators were initiated. She was registered as a lung transplant candidate at 4 years of age after the life-threatening exacerbation. Chest computed tomography (CT) revealed severe lung conditions with ground-glass opacities and emphysematous low-density areas in the upper and lower lobes. BLTx from a brain-dead male donor was performed. The pathological findings of her resected lung revealed saccular, hypoplastic lung with alveolar repair/regeneration, and medial hypertrophy and muscularization of peripheral arteries. The postoperative course was mostly uneventful. She was free from oxygen administration and showed no signs of PH after 6 months of the surgery. CONCLUSION: This is the first case report of BLTx in a pediatric, irreversible BPD-PH patient with detailed pathohistological findings and clinical examination. Lung transplantation is one of the treatment options for severe BPD-PH.
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Displasia Broncopulmonar , Hipertensão Pulmonar , Transplante de Pulmão , Displasia Broncopulmonar/complicações , Criança , Feminino , Humanos , Hipertensão Pulmonar/complicações , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Pulmão , MasculinoRESUMO
The right half of the colon was resected in a 70-year-old woman in August 2002 for ascending colon cancer. The peritoneum was also resected because of metastasis (Stage IV). Since tumor markers gradually increased, positron emission tomography (PET)/ computed tomography (CT) revealed peritoneal dissemination. Abdominal pain appeared 40 months after surgery. Barium enema findings revealed an ileal constriction approximately 25 cm from the anastomosed site toward the anus. Repeat PET/CT revealed peritoneal dissemination coinciding with ileal constriction. CT did not reveal well-defined tumor shadows. The patient was diagnosed with constriction associated with peritoneal metastasis and underwent surgery. Surgical findings revealed a roughly 2-cm peritoneal metastatic focus and ileal constriction. The site was resected and anastomosed. Postoperative progress was favorable; the patient was discharged and enjoys a favorable quality of life through outpatient adjuvant chemotherapy. PET/CT is suggested to be useful in observing the progress of peritoneal dissemination and may be of assistance in determining the course of treatment.
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Neoplasias do Colo/patologia , Neoplasias do Colo/cirurgia , Neoplasias Peritoneais/secundário , Neoplasias Peritoneais/cirurgia , Tomografia Computadorizada de Emissão , Tomografia Computadorizada por Raios X , Idoso , Neoplasias do Colo/diagnóstico por imagem , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/cirurgia , Feminino , Humanos , Neoplasias Peritoneais/diagnóstico por imagemRESUMO
PHACES syndrome is an uncommon neurocutaneous disorder first identified in 1996. Patients with PHACES syndrome often require surgical treatment for their anomalies, including intracranial vasculopathy, coarctation/interruption of the aorta, intracardiac defects, glaucoma/cataract and sternal defects. Risk factors associated with the symptoms of intraoperative/perioperative management include ischaemic stroke due to the cerebral vasculopathy, airway obstruction due to the subglottic/tracheal haemangiomas and massive bleeding due to the large haemangiomas. Recently, propranolol is considered as first-line therapy for patients with infantile haemangiomas (IHs). However, until now, there have been no reported cases of PHACES syndrome treated by propranolol to reduce the surgical risks associated with IH. In this report, we describe a case of a 14-month-old Japanese girl with PHACES syndrome treated by propranolol for IH before surgical closure of the ventricular septum defect. Oral administration of propranolol was effective in decreasing the size of IH, leading to the uneventful perioperative course.
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Anormalidades Múltiplas/cirurgia , Coartação Aórtica/cirurgia , Anormalidades do Olho/cirurgia , Hemangioma/tratamento farmacológico , Síndromes Neurocutâneas/cirurgia , Propranolol/administração & dosagem , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/patologia , Administração Oral , Antagonistas Adrenérgicos beta , Obstrução das Vias Respiratórias/complicações , Obstrução das Vias Respiratórias/prevenção & controle , Coartação Aórtica/tratamento farmacológico , Coartação Aórtica/patologia , Ecocardiografia/métodos , Anormalidades do Olho/tratamento farmacológico , Anormalidades do Olho/patologia , Feminino , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/cirurgia , Hemangioma/diagnóstico por imagem , Humanos , Lactente , Imageamento por Ressonância Magnética , Síndromes Neurocutâneas/tratamento farmacológico , Síndromes Neurocutâneas/patologia , Cuidados Pré-Operatórios/normas , Propranolol/efeitos adversos , Doenças Raras , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/prevenção & controle , Resultado do TratamentoRESUMO
The original version of this Article omitted the fourth author Taizo Yoshinaga, who is from the 'Graduate School of Pure and Applied Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Japan'. Consequently, the third sentence of the Author Contributions, 'M.S. and M.K. synthesized the ITO NCs and ITO/semiconductor oxides' was revised to 'M.S., M.K. and T.Y. synthesized the ITO NCs and ITO/semiconductor oxides'. This has been corrected in both the PDF and HTML versions of the Article.