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Major depressive disorder (MDD) is the second leading cause of disability worldwide. Currently, the structural magnetic resonance imaging-based MDD diagnosis models mainly utilize local grayscale information or morphological characteristics in a single site with small samples. Emerging evidence has demonstrated that different brain structures in different circuits have distinct developmental timing, but mature coordinately within the same functional circuit. Thus, establishing an attention-guided unified classification framework with deep learning and individual structural covariance networks in a large multisite dataset could facilitate developing an accurate diagnosis strategy. Our results showed that attention-guided classification could improve the classification accuracy from primary 75.1% to ultimate 76.54%. Furthermore, the discriminative features of regional covariance connectivities and local structural characteristics were found to be mainly located in prefrontal cortex, insula, superior temporal cortex, and cingulate cortex, which have been widely reported to be closely associated with depression. Our study demonstrated that our attention-guided unified deep learning framework may be an effective tool for MDD diagnosis. The identified covariance connectivities and structural features may serve as biomarkers for MDD.
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Trastorno Depresivo Mayor , Humanos , Encéfalo , Imagen por Resonancia Magnética , Atención , Redes Neurales de la ComputaciónRESUMEN
Background: 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome exhibiting significant clinical phenotype variability. This study aimed to investigate the clinical features, immune profiles, and cognitive abilities of 22q11.2DS patients receiving treatment at MacKay Memorial Hospital in Taipei, Taiwan. Methods: This is a cross-sectional analysis between January 2001 and December 2022. We recruited 27 patients with 22q11.2DS using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH). Our evaluation included patient history, physical examination, laboratory analysis, and cardiac and cognitive assessment. Results: We included 27 patients with 22q11.2DS, 7 (25.9%) of whom were female. The median age of the patients was 17.9 yr. Ninety-three percent of the patients exhibited the characteristic facial features associated with the syndrome. A family history of 22q11.2DS was found in 11.1% of the patients. Furthermore, 74.1% of the patients had a congenital heart defect, the most common of which was tetralogy of Fallot (40.7%). Hypocalcemia was observed in 40.7% of the patients. A low T-cell count was observed in 66.7% of the patients, whereas 18.5% had low immunoglobulin levels. Cognitive assessments revealed that four out of six evaluated patients (66.7%) had an intellectual disability, as evidenced by intellectual quotient scores less than 70. The remaining two patients (33.3%) had a borderline intellectual function. Conclusion: Tetralogy of Fallot, hypocalcemia, immunologic defects, and cognitive impairment were common among our patients. To address the potential multisystem involvement, we recommend that all affected individuals undergo a comprehensive evaluation by a multidisciplinary care team.
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Síndrome de DiGeorge , Cardiopatías Congénitas , Hipocalcemia , Tetralogía de Fallot , Humanos , Femenino , Masculino , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/diagnóstico , Tetralogía de Fallot/genética , Hipocalcemia/genética , Hibridación Fluorescente in Situ , Taiwán/epidemiología , Estudios Transversales , Hibridación Genómica Comparativa , Cardiopatías Congénitas/genética , Sistema Inmunológico , Deleción CromosómicaRESUMEN
We investigated the hemodynamic parameters of pediatric PDA patients and focused on the influence of PDA size on pulmonary arterial pressure and the prevalence of pulmonary hypertension. A total of 52 patients aged between 2 months and 20 years who received transcatheter closure of a PDA from January 2018 to June 2022 in our institution were retrospectively recruited. Their hemodynamic parameters collected both by echocardiography and by cardiac catheterization were analyzed to delineate the influence of PDA size on the pulmonary vascular system. The echocardiographic-based ductal size and indexed PDA size were 1.93 mm (1.15-6 mm) and 4.05 mm/m2 (2.03-25.47 mm/m2), respectively. The pulmonary artery pressure measured was 20.83 mmHg (8-45 mmHg). We found a positive correlation between indexed PDA size and mean pulmonary arterial pressure (mPAP) (Pearson correlation coefficient = 0.47, p < 0.001). A subgroup analysis showed that 28 patients (53.8%) developed pulmonary hypertension (PH) (defined as mPAP > 20 mmHg). The median age of the PH group was 1.02 years [range: 0.19-8.64], which was significantly younger than the non-PH group's median age of 3.43 years [range: 0.42-19.96] (p = 0.001). The indexed PDA size for the PH group, 4.69 mm/m2, was significantly higher than that of the non-PH group, 3.2 mm/m2 (p = 0.004). The major risk factor for patients with PH was the PDA/BSA index, with an OR of 2.181 (95% CI, 1.224-3.887). Our demographic data showed younger patients with a higher PDA/BSA index are more likely to develop pulmonary hypertension.
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Conducto Arterioso Permeable , Hipertensión Pulmonar , Niño , Humanos , Lactante , Preescolar , Conducto Arterioso Permeable/diagnóstico por imagen , Conducto Arterioso Permeable/complicaciones , Hipertensión Pulmonar/etiología , Resultado del Tratamiento , Estudios Retrospectivos , Hemodinámica , Ecocardiografía , Cateterismo Cardíaco/efectos adversosRESUMEN
BACKGROUND: Prolongation of the QT interval is associated with the risk of sudden infant death syndrome. QT interval differs depending on age at the time of screening. Screening protocols have yet to be established for Taiwanese patients. OBJECTIVES: To construct QT interval reference values during early infancy, to investigate whether QT interval change differs according to age calculation methods, and to identify an optimal QT correction method and associated infant factors. METHODS: Electrocardiographic readings and QT intervals were recorded cross-sectionally in 595 healthy infants and screened prospectively for long QT interval. Corrected QT intervals with Bazett's (QTc-B) and Fridericia's (QTc-F) formulas were compared by post-natal and post-menstrual screening age, sex, body mass index (BMI), heart rate (HR), birth and family history. RESULTS: QTc-B and QTc-F decreased in the second month (31-60 days), and peaked in the third month (61-90 days). QT interval length was similar between post-menstrual and post-natal ages for QTc-B. Simple linear regression showed that post-menstrual age, post-natal age, HR and BMI were associated with QTc-F, while only sex and HR were associated with QTc-B. Although both QTc-B and QTc-F were significantly associated with HR, QTc-B was less affected by HR than QTc-F (ß = -0.1, p < 0.05 for QTc-B vs. ß = -0.3, p < 0.001 for QTc-F). Female infants tended to have slightly longer QTc intervals. CONCLUSIONS: QT interval in early infancy changed physiologically, peaking in the third month. The rate of QT change was not affected by different age correction methods. QTc-B was less affected by age, BMI and HR, although differences in sex should be noted.
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RASopathies are developmental diseases caused by mutations in rat sarcoma-mitogen-activated protein kinase pathway genes. These disorders, such as Noonan syndrome (NS) and NS-related disorders (NSRD), including cardio-facio-cutaneous (CFC) syndrome, Costello syndrome (CS), and NS with multiple lentigines (NSML; also known as LEOPARD syndrome), have a similar systemic phenotype. A wide spectrum of congenital heart disease and hypertrophic cardiomyopathy (HCMP) can exhibit major associated characteristics. A retrospective study was conducted at the Mackay Memorial Hospital, National Taiwan University Hospital, Buddhist Tzu-Chi General Hospital, Chang-Gung Memorial Hospital, Taichung Veterans General Hospital, and Chung Shan Medical University Hospital from January 2007 to December 2018. We reviewed the clinical records of 76 patients with a confirmed molecular diagnosis of RASopathies, including NS, CS, CFC syndrome, and NSML. We evaluated the demographic data and medical records with clinical phenotypes of cardiac structural anomalies using cross-sectional and color Doppler echocardiography, electrocardiographic findings, and follow-up data. A total of 47 (61.8%) patients had cardiac abnormalities. The prevalence of cardiac lesions according to each syndrome was 62.7, 50.0, 60.0, and 66.7% in patients with NS, CFC syndrome, CS, and NSML, respectively. An atrial septal defect was usually combined with other cardiac abnormalities, such as pulmonary stenosis (PS), HCMP, ventricular septal defect, or patent ductus arteriosus. Patients with NS most commonly showed PS. In patients with NSRD and cardiac abnormalities, HCMP (29.4%) was the most commonly observed cardiac lesion. PTPN11 was also the most frequently detected mutation in patients with NS and NSRD. Cardiac abnormalities were the most common symptoms observed in patients with RASopathies at the time of their first hospital visit. Performing precise analyses of genotype-cardiac phenotype correlations in a larger cohort will help us accurately diagnose RASopathy as soon as possible.
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Discapacidades del Desarrollo/genética , Cardiopatías Congénitas/genética , Síndrome de Noonan/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Cardiomiopatía Hipertrófica/genética , Cardiomiopatía Hipertrófica/fisiopatología , Síndrome de Costello/genética , Síndrome de Costello/fisiopatología , Estudios Transversales , Discapacidades del Desarrollo/clasificación , Discapacidades del Desarrollo/patología , Displasia Ectodérmica/genética , Displasia Ectodérmica/fisiopatología , Facies , Insuficiencia de Crecimiento/genética , Insuficiencia de Crecimiento/fisiopatología , Femenino , Cardiopatías Congénitas/fisiopatología , Defectos del Tabique Interatrial/genética , Defectos del Tabique Interatrial/fisiopatología , Humanos , Síndrome LEOPARD/genética , Síndrome LEOPARD/fisiopatología , Masculino , Síndrome de Noonan/fisiopatología , Estudios Retrospectivos , Proteínas ras/genéticaRESUMEN
BACKGROUND: Sudden cardiac death (SCD) is an uncommon but significant cause of death in the young. Citywide cardiac screening of school-aged children has been performed in Taipei since 1989. In this study, we investigate the efficacy of this screening method for identifying those at high risk of SCD. METHODS: This study analyzed the data from the results of cardiac screening for school-aged children in Taipei from 2003 to 2014. The cardiac screening included: Stage I, questionnaire surveys, simplified phonocardiography test and simplified electrocardiography (ECG) test; Stage II, physical examination and auscultation by a pediatric cardiologist for all children who had abnormal findings in stage I screening; Stage III, referral to a pediatric cardiologist for further examinations. Logistic regression and decision tree analyses were performed. RESULTS: A total of 566,447 students were screened, of whom 685 were identified as being at high risk of SCD. The most common causes of being at high risk of SCD included Wolff-Parkinson-White syndrome, long QT syndrome, cardiomyopathy and Marfan's syndrome. Using logistic regression analysis, the simplified ECG test was identified as being the most effective tool (odds ratio = 16.4, p < 0.001) and past history as the second most crucial factor (odds ratio = 3.95, p < 0.001) for detecting a high risk of SCD. Decision tree analysis showed that serial studies with a past history and the simplified ECG test could accurately identify those at high risk of SCD. CONCLUSIONS: Questionnaire survey and simplified electrocardiography test-based cardiovascular screening in school-aged children can identify those at high risk of SCD.
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BACKGROUND: Persistent left superior vena cava (PLSVC) is a vascular anomaly that is usually asymptomatic and detected incidentally. The incidence of PLSVC has seldom been evaluated in normal populations. In this study, we determined the incidence of PLSVC in a normal neonatal population using transthoracic echocardiography. We also evaluated the associations between PLSVC and asymptomatic congenital heart diseases. MATERIALS AND METHODS: In this retrospective study, we identified healthy neonates based on echocardiography results from 2008 to 2017. Based on the echocardiography findings, we categorized the patients into a PLSVC group and a control group (patients without PLSVC). Chi-square and logistic regression tests were used for data analysis. RESULTS: Of the 19,488 neonates assessed in this study, 56 were found to have PLSVC, and the remaining 19,432 neonates comprised the control group. The incidence of PLSVC was 0.29% in our population. In the PLSVC group, 3.6% of the patients exhibited bicuspid aortic valves, and 10.7% of the patients exhibited secundum-type atrial septal defects. Both the incidence and association of these conditions were higher in the PLSVC group than in the control group. CONCLUSIONS: Based on the echocardiography examination results, we discovered that the incidence of PLSVC in Taiwanese neonates was 0.29%. Although the neonates with PLSVC were asymptomatic and exhibited no health concerns, they were associated with higher incidence rates of bicuspid aortic valves and secundum-type atrial defects. Additional follow-up and evaluation regarding these findings may be warranted.
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The use of balloon aortic valvuloplasty for congenital aortic valve stenosis was well established in literatures. However, balloon aortic valvuloplasty performed in low body weight neonates had been infrequently reported. Here we report a 5-day-old premature neonate diagnosed critical aortic valve stenosis. Balloon aortic valvuloplasty was performed as first-line therapy while the patient weighed only 1493 g. Balloon aortic valvuloplasty went successfully with transvalvular pressure gradient decreased from 80 mmHg to 44 mmHg. Aortic regurgitation after balloon aortic valvuloplasty was mild. The patient's clinical condition stabilized after balloon aortic valvuloplasty and was able to gain weight to 2665 g. Our report demonstrates that balloon aortic valvuloplasty is possible, safe and efficient as first-line approach for critical aortic valve stenosis in neonates with low body weight.
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BACKGROUND: Left ventricular noncompaction cardiomyopathy (LVNC) is a primary genetic cardiomyopathy with morphologically unique characteristics, including loose "spongy" meshwork. Subjects carrying these disorders were typically presented with triad of heart failure, cardiac arrhythmias, and consequences of mural thrombi formation. The clinical and echocardiographic features regarding LVNC, however, are not widely known. METHODS: A retrospective survey involving 11 patients who fulfilled echocardiographic criteria for LVNC defined by Jenni et al. was conducted at MacKay Memorial Hospital from January 2009 to March 2017. Parameters assessed by echocardiography and clinical data were further analyzed. RESULTS: Significantly depressed left ventricular systolic function assessed by echocardiography was noticed in a majority of our adult study cases. CONCLUSION: Considering the fatal complications LVNC may lead to, it is essential for clinical cardiologists to early identify suspicious individuals, and the establishment of definitive criteria and early treatment is essential.
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A singleton pregnant woman was found to have persistent left superior vena cava (PLSVC) of the fetus at 22 weeks by ultrasound. Follow-up scans revealed PLSVC, dilated coronary sinus, dominant right heart, some pericardial effusion, and hypertrophy of the right ventricular wall. The woman had an abdominal delivery at 34 weeks due to rupture of membranes. The baby was found to have coarctation of the aorta postnatally and had aortic reconstruction at 31 days of age. A prenatal ultrasound finding of PLSVC might be associated with coarctation of the aorta and it warrants specialist follow-ups and complete workup of echocardiography prenatally and postnatally.
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BACKGROUND: While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain. METHODS: Medical records and echocardiograms of 28 Taiwanese MPS patients (9 with MPS I, 7 with MPS II, 7 with MPS IVA, and 5 with MPS VI) treated with ERT for 1-10.8years were retrospectively reviewed. RESULTS: At start of ERT, z scores>2 were identified in 46% and 75% for left ventricular mass index (LVMI) and interventricular septum thickness in diastole (IVSd) in these patients, respectively. Twenty-four patients (86%) had valvular heart disease. After ERT, the mean IVSd z score of all patients decreased significantly from 3.87 to 2.57 (p=0.016). For 11 patients starting ERT before 12years of age, z scores for both LVMI and IVSd decreased significantly (p<0.01) after ERT. However, the condition of valve regurgitation or stenosis did not show improvement despite ERT. CONCLUSIONS: ERT was shown to be an effective therapy for reducing cardiac hypertrophy, with best results seen when ERT was started at an early age. ERT, however, had little impact on valvular heart disease.
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Terapia de Reemplazo Enzimático , Cardiopatías/diagnóstico , Cardiopatías/etiología , Corazón/fisiopatología , Mucopolisacaridosis/complicaciones , Mucopolisacaridosis/terapia , Miocardio/patología , Adolescente , Adulto , Niño , Preescolar , Ecocardiografía , Electrocardiografía , Femenino , Estudios de Seguimiento , Humanos , Lactante , Masculino , Mucopolisacaridosis/diagnóstico , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
AIM: Information regarding the functional strengths and weaknesses of children with Down syndrome is important for early intervention programmes and for agencies providing family support and educational services. METHOD: This study used the Functional Independence Measure for Children (WeeFIM) questionnaire for the parents or caregivers of 166 Taiwanese children (101 males and 65 females; median age 12y 7mo; range 3y 2mo-19y 1mo) with Down syndrome to assess their functional skills. RESULTS: Out of a potential score of 126, the mean total WeeFIM score was 101.2. There was no statistically significant difference between the scores from the male and female participants (100.4 [SD 21.4] vs 102.4 [SD 24.7]; p>0.05). The mean scores for three domains (self-care, mobility, and cognition) were 45, 33, and 23 respectively (maximum of 56, 35, and 35 respectively). Performance was strongest in the mobility domain and weakest in the cognition domain. The total WeeFIM scores and 18 subscores for the three domains all positively correlated with age (p<0.05). INTERPRETATION: For children with Down syndrome, some support and supervision is required for cognition and self-care tasks. The WeeFIM questionnaire may be useful for identifying the strengths and limitations of children with developmental disabilities and their families.
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Actividades Cotidianas , Niños con Discapacidad , Síndrome de Down/enfermería , Síndrome de Down/fisiopatología , Autocuidado , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Masculino , Encuestas y Cuestionarios , Taiwán , Adulto JovenRESUMEN
INTRODUCTION: Myocardial iron overload leading to congestive heart failure (HF) or arrhythmias is a recognized complication in thalassemia patients undergoing chronic blood transfusion. The relationship between myocardial iron load, subclinical systolic dysfunction, and clinical events remains less well known. MATERIALS AND METHODS: We studied a total of 77 subjects, comprising 37 thalassemia patients (mean age: 24.2 ± 5.5 years) with a history of repeated blood transfusions, in addition to 40 age- and gender-matched controls (mean age: 24 ± 4.5 years). Serum ferritin levels were checked in all subjects, as well as semiautomated quantification of left ventricular (LV) longitudinal, circumferential, and radial deformations assessed by two-dimensional (2D) speckle tracking analysis. RESULTS: Compared with the control group, thalassemia patients showed significantly larger LV mass index and lower myocardial deformations (P < 0.05), but left ventricular ejection fraction (LVEF) did not differ significantly (P = 0.233). There was a significant linear correlation between serum ferritin level and longitudinal (r = 0.44, P = 0.0078) and radial strain (r = -0.46, P = 0.0051), with optimal cutoff provided to be -15.48%, -21.31%, and 26.67% for longitudinal, circumferential, and radial strain in predicting clinical events, respectively. During a median of 802.5 days follow-up, 11 clinical composites (HF incidence, ventricular tachyarrhythmia, and death) occurred (N = 9 subjects); subjects with composites had significantly reduced longitudinal and radial strain compared to those without (both P < 0.05). After adjusting for age, sex, serum ferritin level, and LV mass index, a worsening of longitudinal strain remained as an independent predictor of clinical events and death (HR: 6.05, P = 0.033). CONCLUSION: Subclinical systolic dysfunction appears more likely in thalassemia subjects with a history of repeated blood transfusions, which further correlated with serum ferritin levels. In addition, worsening LV myocardial deformation parameters may play an independent role in predicting clinical outcomes beyond traditional measures in this population.
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Transfusión Sanguínea , Ferritinas/sangre , Talasemia/sangre , Talasemia/terapia , Disfunción Ventricular Izquierda/sangre , Disfunción Ventricular Izquierda/diagnóstico por imagen , Adulto , Biomarcadores/sangre , Diagnóstico por Imagen de Elasticidad/métodos , Femenino , Humanos , Masculino , Pronóstico , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Talasemia/complicaciones , Resultado del Tratamiento , Disfunción Ventricular Izquierda/etiologíaRESUMEN
BACKGROUND: The mucopolysaccharidoses (MPS) are a group of rare inherited metabolic diseases that can cause damages in various organs including the heart. This study aimed to review the medical records of Taiwanese patients with MPS in order to evaluate the cardiovascular involvement in those patients. METHODS: From 2000 to 2012, the medical records of 60 patients with MPS in a tertiary medical center in Taiwan were retrospectively reviewed. Data on cardiac measurements and functions were obtained from previously performed echocardiograms and electrocardiograms. Cardiac parameters were analyzed according to MPS types and patients' age. RESULTS: The most frequent MPS type was type II (43%). Overall, heart conditions such as thick interventricular septum (55%), asymmetric septal hypertrophy (42%) and mitral valve prolapse (33%) were common, while cardiac enlargement was infrequently seen. Valvular stenosis/regurgitation and cardiac hypertrophy were more common in patients with MPS I, II, and VI when compared with other MPS types. Cardiovascular abnormalities including valvular deformation and thickening, thick interventricular septum and diastolic dysfunction were found to progress with age. CONCLUSIONS: The anatomical changes of cardiovascular systems were common in all types of MPS patients, especially in MPS I, II, and VI. Echocardiography and electrocardiography can provide us good tools for early detection and long-term follow-up for these patients.
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Anomalías Cardiovasculares/complicaciones , Mucopolisacaridosis/complicaciones , Adolescente , Anomalías Cardiovasculares/diagnóstico por imagen , Niño , Electrocardiografía , Femenino , Humanos , Masculino , Mucopolisacaridosis/diagnóstico por imagen , Examen Físico , Taiwán , Ultrasonografía , Adulto JovenRESUMEN
BACKGROUND: Patients with mucopolysaccharidoses (MPS) often have hearing loss. However, the characterization of hearing loss by pure-tone audiometry (PTA) in this rare disease population and its relationship to age and treatment is limited. METHODS: PTA was performed in 39 patients with MPS (29 males and 10 females; 3 with MPS I, 21 with MPS II, 9 with MPS IVA, and 6 with MPS VI; median age, 11.9 years; age range, 4.4-34.2 years). The degree of hearing loss was classified by the age-independent World Health Organization (WHO) clinical guidelines. RESULTS: Hearing loss by PTA was present in 85% (33/39) of patients and was categorized as mild (26-40 dB) in 18%, moderate (41-60 dB) in 36%, severe (61-80 dB) in 23%, and profound (≥81dB) in 5%. Among the patients with hearing loss, 33% were classified as mixed type (conductive and sensorineural), 30% as pure conductive type, 27% as pure sensorineural type, and 9% were undefined. The means of the right and left ear hearing thresholds at 2000 and 4000 Hz by air conduction (AC) and at 500, 1000, 2000, and 4000 Hz by bone conduction (BC) were all positively correlated with age (p<0.05). In the 6 patients with MPS II or VI who underwent follow-up PTA after ventilation tube insertion and enzyme replacement therapy for 1.9 to 8.5 years, all showed improvements in AC and BC of the better ear, as well as in the air-bone gap. CONCLUSIONS: Hearing impairment is common in MPS. Early otolaryngological evaluation and intervention are recommended. These findings and the follow-up data can be used to develop quality of care strategies for patients with MPS.
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Audiometría de Tonos Puros , Pérdida Auditiva/complicaciones , Pérdida Auditiva/diagnóstico , Mucopolisacaridosis/complicaciones , Adolescente , Adulto , Distribución por Edad , Umbral Auditivo , Niño , Preescolar , Femenino , Estudios de Seguimiento , Pérdida Auditiva/epidemiología , Humanos , Masculino , Prevalencia , Adulto JovenRESUMEN
Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects.
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Kabuki syndrome (KS) is a rare genetic disorder characterized by distinct facial features, intellectual disability, and multiple congenital anomalies. We conducted a comprehensive analysis of the genetic and phenotypic spectrum of KS in a Taiwanese patient group of 23 patients. KMT2D variants were found in 22 individuals, with missense (26.1%), nonsense (21.7%), and frameshift (17.4%) variants being the most prevalent. One patient had a KMT2D variant of uncertain significance. The most common clinical characteristics included distinct facial features (100%), intellectual disability (100%), developmental delay (95.7%), speech delay (78.3%), hypotonia (69.6%), congenital heart abnormalities (69.6%), and recurrent infections (65.2%). Other abnormalities included hearing loss (39.1%), seizures (26.1%), cleft palate (26.1%), and renal anomalies (21.7%). This study broadens the mutational and phenotypic spectrum of KS in the Taiwanese population, highlighting the importance of comprehensive genetic testing and multidisciplinary clinical evaluations for diagnosis and treatment.
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In normal anatomy, the left pulmonary artery (LPA) is usually situated higher than the right pulmonary artery (RPA); however, transposition of the great arteries (TGA), the LPA is not always situated higher than the RPA. This study was performed to clarify the relative position of the RPA and the LPA in transposition of the great arteries (TGA) as well as the implications. We reviewed 101 angiograms of patients with TGA (age 4.1 ± 1.2 months). The width of the RPA, the LPA, and the pulmonary trunk (PT) were measured just before their first branch in the frontal view. They were classified into four groups according to the ratio between the RPA and the PT (RPA/PT). The initial courses of the LPA and the RPA were compared and defined according to their height in the frontal view, and the preferential flow (or not) to the RPA was recorded. The equation of hydrodynamics was applied to evaluate the bifurcation angle. Both PAs were the same size in all cases. Forty-eight patients (47.5 %) had a RPA/PT diameter ratio < 0.49. The LPA coursed higher than the RPA in the majority of cases (81 [80.2 %]); in a minority of cases the LPA and RPA were at the same level (6 [5.9 %]); and in some cases the RPA coursed higher than the LPA (14 [13.9 %]). Patients with a high degree of PA hypoplasia tended to have both PAs at the same level or a higher-positioned RPA. Autopsy (1 of 3 cases) showed a posterior ridge against the bronchus in the higher RPA. Hydrodynamic calculation showed that the greater the angle between the RPA/PT, the greater the preferential flow. Preferential flow to the RPA in TGA did not necessarily result in LPA hypoplasia before its first branch. Higher RPA position relative to the LPA was associated with greater flow in it against the posterior bronchus. This situation was more prevalent in patients with severe PA hypoplasia.
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Arteria Pulmonar/anomalías , Arteria Pulmonar/diagnóstico por imagen , Transposición de los Grandes Vasos/diagnóstico por imagen , Preescolar , Angiografía Coronaria , Femenino , Humanos , MasculinoRESUMEN
OBJECTIVES: Functional magnetic resonance imaging (fMRI) technology was used to study changes to the resting state blood flow in the brains of patients with knee osteoarthritis (KOA) before and after treatment with moxibustion at the acupoint of the left Dubi (ST 35) and to probe the cerebral mechanism underlying the effect of moxibustion. METHODS: The resting state brain function of 30 patients with left KOA was scanned with fMRI before and after treatment with moxibustion. The analytic methods of fractional amplitude of low frequency fluctuation (fALFF) and regional homogeneity (ReHo) were used to observe changes in resting state brain function. RESULTS: The fALFF values of the right cerebrum, extra-nucleus, left cerebellum, left cerebrum and white matter of patients after moxibustion treatment were higher than before treatment, and the fALFF values of the precentral gyrus, frontal lobe and occipital lobe were lower than before treatment (P < 0.05, K > or = 85). The ReHo values of the thalamus, extra-nucleus and parietal lobe of patients were much higher than those before moxibustion treatment, and the ReHo values of the right cerebrum, left cerebrum and frontal lobe were lower than before treatment (P < 0.05, K > or = 85). CONCLUSION: The influence of moxibustion on obvious changes in brain regions basically conforms to the way that pain and warmth is transmitted in the body, and the activation of sensitive systems in the body may be objective evidence of channel transmission. The regulation of brain function by moxibustion is not in a single brain region but rather in a network of many brain regions.
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Encéfalo/fisiopatología , Moxibustión , Osteoartritis de la Rodilla/fisiopatología , Osteoartritis de la Rodilla/terapia , Anciano , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Osteoartritis de la Rodilla/diagnóstico por imagen , RadiografíaRESUMEN
OBJECTIVE: To compare the curative effects of heat-sensitive moxibustion with conventional drugs on chronic persistent asthma and seek a valuable therapy to replace Western Medicine. METHODS: The participants in this multi-center, randomized, and controlled study were randomly divided into two groups: group A (n=144), treated with heat-sensitive moxibustion (50 sessions) and group B (n=144), treated with Seretide (salmeterol 50 plg/fluticasone 250 pg, twice a day). The scores of asthma control test (ACT), forced expiratory volume in 1 second (FEV1), peak expiratory flow (PEF), and attack frequency were measured after 15, 30, 60, and 90 days of treatment. Patients followed up 3 and 6 months after treatment. RESULTS: There was a significant difference (P= 0.0002) in the ACT score and lung function between the two groups after 3 months of treatment and (P=0.000 03) during the follow-up visits. In addition, heat-sensitive moxibustion reduced attack frequency in the period from inclusion to the 6-month follow-up visit. CONCLUSION: This study shows that heat-sensitive moxibustion may have a comparable curative effect to Seretide (salmetero/fluticasone) on asthma.