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Biomedical subjects

Ming-Ren Chen

Publications and source records attributed to Ming-Ren Chen.

At least 19 recordsLinked to original sources
PubMed2025

HLA-DRB1*15:01 Is Associated and Linked With Kawasaki Disease, With DRB1*14:01 Conferring Risk to Coronary Artery Lesions: Case-Control and Family-Based Studies.

Kawasaki disease (KD), also known as mucocutaneous lymph node syndrome, is a leading cause of vasculitis in children aged <&#x2009;5&#x2009;years. The HLA complex has been investigated for its association with KD since 1978 without conclusive results due to limitations such as small sample sizes. This study aimed to evaluate the associations and genetic linkage between HLA-DRB1 and KD, as well as its complications. The case-control and family-based studies enrolled 795 patients with KD and 946 healthy controls. Of the 795 patients, 180 trios were included. Genotypes of HLA-DRB1 were identified by sequence-based typing according to the International ImMunoGeneTics database. Allele frequencies were calculated using PyPop 7.0. The transmission/disequilibrium test (TDT) was used to verify the genetic linkage between HLA-DRB1 and KD. HLA-DRB1*15:01 was significantly associated with KD (OR, 1.44, Pc&#x2009;=&#x2009;0.03) and with KD without CALs (OR&#x2009;=&#x2009;1.46,&#x2009;Pc&#x2009;=&#x2009;0.04). HLA-DRB1*14:01 was a risk factor for KD with CALs (OR&#x2009;=&#x2009;2.47,&#x2009;Pc&#x2009;=&#x2009;0.004) whereas HLA-DRB1*12:02 was a protective factor against CALs (OR&#x2009;=&#x2009;0.49, Pc&#x2009;=&#x2009;0.01). In the family-based study, HLA-DRB1*15:01 demonstrated significant overtransmission to KD patients (OR&#x2009;=&#x2009;3.35; 95% CI, 2.20-5.78; Pc&#x2009;=&#x2009;1.19E-06) and to KD patients without CALs (OR&#x2009;=&#x2009;4.42; 95% CI, 2.59-10.08; Pc&#x2009;=&#x2009;6.24E-06). The overtransmission remained significant in male KD patients (OR&#x2009;=&#x2009;2.81; 95% CI, 1.68-5.58; Pc&#x2009;=&#x2009;0.003), and in male KD patients without CALs (OR&#x2009;=&#x2009;3.22; 95% CI, 1.69-8.84; Pc&#x2009;=&#x2009;0.02). Our study identified significant&#x2009;associations between HLA-DRB1*15:01, *14:01, and *12:02 with KD. The association between HLA-DRB1*15:01 and KD was further verified by TDT, indicating a genetic linkage between the HLA-DRB1 locus and KD susceptibility.

Humans↗
PubMed2006

Genetic variations of HLA-DRB1 and susceptibility to Kawasaki disease in Taiwanese children.

Although some previous studies have reported that genetic and immunologic factors play important roles in the pathogenesis of Kawasaki disease (KD), the etiologic factors of this enigmatic pediatric disease are still poorly understood. The purpose of this study was to investigate whether polymorphisms of the human leukocyte antigen DRB1 (HLA-DRB1) gene are associated with KD and the development of coronary artery lesions (CAL) in Taiwanese children. Genomic DNA was extracted from whole blood samples from 145 children with KD and 331 healthy controls. The HLA-DRB1 gene was genotyped by polymerase chain reaction (PCR) and sequence-based typing assays. We found that the distribution of HLA-DRB1 allele families and alleles in children with KD did not differ from that in healthy controls. Stratified analysis did not demonstrate any association between particular HLA-DRB1 allele families or alleles and the development of CAL in children with KD. These findings suggest that susceptibility to KD and CAL is not associated with the HLA-DRB1 gene in a Taiwanese population. If immunogenetic determinants are involved in this disease and its complications in Taiwanese children, they must involve genes other than HLA-DRB1.

Child↗
PubMed2006

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004.

Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately 1 in 3,000 to 1 in 8,000, and the life span of the majority of patients is less than 1 year. As information regarding outcome in trisomy 18 is rather fragmentary in the literature, this study is aimed at investigating the survival and natural history of trisomy 18. We also evaluated the survival age and management of trisomy 18 in two different periods, before and after the implementation of National Health Insurance (NHI) program. Thirty-nine cases of trisomy 18 were collected in Mackay Memorial Hospital in a 17-year period, from 1988 to 2004. Delivery data, survival age, management before and after the implementation of NHI program, structural defects, image findings and cytogenetic results were analyzed by medical and nurse's records. The diagnosis of trisomy 18 was based on the prenatal amniocentesis or postnatal chromosome analysis. Three patients had trisomy 18 mosaicism. Since cardiovascular and central nervous systems are the most common organ systems involved in this disorder, 31 patients received brain ultrasonography and heart ultrasonography for evaluation of their multiple anomalies after admission. All patients except one died in their first year due to severe malformations of the cardiovascular or central nervous systems. The median survival age was 6 days. We found a longer survival with female patients than with male patients (P < 0.05). Implementation of NHI program in the more recent decade of this study period was associated with longer survival of trisomy 18 (P < 0.05). The three most common structural defects were clenched hands (95%), rocker bottom feet (90%), and low set or malformed ears (90%). Low birth weight was present in 90%. By cardiac ultrasonography, the top four heart defects were ventricular septal defect (94%), patent ductus arteriosus (77%) and atrial septal defect (68%). However, ten cases (32%) had complex congenital heart defects. By brain ultrasonography, the most common brain lesion was cerebellar hypoplasia (32%), followed by brain edema (29%), enlarged cisterna magna (26%) and choroid plexus cysts (19%). Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that a small but notable percentage of these patients will survive the first year. When prenatal or postnatal decisions need to be made, the possibility of long-term survival should be included in any discussion to enable families to make the most appropriate decision.

Abnormalities, Multiple↗
PubMed2006

Clinical features of Ehlers-Danlos syndrome.

BACKGROUND/PURPOSE: Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder characterized by hyperextensibility of the skin, hypermobility of joints, and tissue fragility. This retrospective study analyzed the characteristics of patients with EDS. METHODS: Review of medical records identified 16 cases of EDS during the study period from November 1997 to October 2002. Data on these patients, including clinical presentation, physical examinations, Beighton score, echocardiogram, bone mineral density findings and clinical classification, were analyzed. RESULTS: The age of the patients ranged from 13 months to 36 years. All patients had skin hyperextensibility, joint hypermobility (Beighton score > 5 points), and tissue fragility. Complete bone mineral density study was performed in 11 patients and revealed that all had osteoporosis. Echocardiographic study was performed in 14 patients and showed aortic root dilatation/valve prolapse in 6/14 (43%). Other common features of EDS had the following prevalence: premature rupture of membranes in 3/16 (19%); prematurity in 3/16 (19%); neonatal hypotonia in 5/16 (31%); congenital hip dislocation in 3/16 (19%); unstable gait in 7/16 (44%); bone fracture(s) in 3/16 (19%); motor delay in 3/16 (19%); scoliosis in 3/16 (19%); short stature in 7/16 (44%); and positive family history in 8/16 (50%). All patients had a Beighton score of more than 5 points. CONCLUSION: The results of this study emphasize the importance of echocardiographic monitoring of aortic size and valvular condition, and assessment of bone mineral density in patients with EDS. Clinical evaluation and counseling should be undertaken prior to pregnancy in patients with EDS because of the risk from labor and vaginal delivery in patients with type IV and the inability to distinguish EDS subtypes in Taiwan due to the unavailability of biochemical assay or molecular mutation analysis as part of standard care.

Adolescent↗
PubMed2005

Generalized arterial calcification of infancy: different clinical courses in two affected siblings.

Generalized arterial calcification of infancy (GACI) is a rare autosomal recessive disease caused by mutations in ENPP1. Due to extensive calcification of the arterial media associated with intimal proliferation leading to vascular occlusion, most affected children die within the first 6 months of life. We report on two Taiwanese siblings with an identical genotype, but different clinical course. The male sibling developed heart failure and severe hypertension, and died at the age of 6 weeks despite of treatment with bisphosphonates, ACE inhibitors, and hydralazine. The subsequent female, who was monitored closely pre- and post-natally, is having an uncomplicated clinical course up to the age of 1(1/2) year now. There were similar characteristic sonographic and roentgenographic findings in both siblings in early infancy. In both siblings, the same compound heterozygous mutations (c.1025G > T [p.Gly342Val] and c.1112A > T [Tyr371Phe]) in ENPP1 were identified. Despite the same genotype and similar sonographic and radiographic features in early infancy, the phenotype of GACI can vary to a great extent within one family.

Calcinosis↗
PubMed2005

Cerebral hemodynamic change and intraventricular hemorrhage in very low birth weight infants with patent ductus arteriosus.

The aims of this study were to assess the hemodynamics of the cerebral arteries and intraventricular hemorrhage in very-low-birthweight (VLBW) infants with and without patent ductus arteriosus (PDA) by cranial Doppler sonography. VLBW infants with significant PDA were recruited into the study (sPDA) group. Arterial blood gas analysis and complete blood counts were done near the time of the cranial sonography examination. Mechanical ventilator settings and daily fluid intake were recorded. The cranial Doppler sonographic examinations were repeated after PDA closure by indomethacin therapy and/or surgical ligation. A total of 40 preterm infants fulfilled the criteria of the study group. Another 37 preterm infants were recruited into a control group. Mean birth weight and gestational age did not differ significantly between the two groups. Differences in heart rate, blood pH, pCO2, pO2, use of surfactant therapy, mean airway pressure, ventilation index and FiO2 were statistically significant. In the sPDA group before closure of the PDA, the left atrial diameter/aorta diameter ratio demonstrated a positive relationship with resistance index (RI) and an inverse relationship with end diastolic velocities (Vd). After closure of the PDA, these changes neared those of the control group. The overall incidence of intraventricular hemorrhage (IVH) was higher in the sPDA than in the control group. There was no statistical difference in the grading and severity of IVH between the two groups. However, all preterm infants with severe IVH were found in the sPDA group, and their RIs were all higher than 0.80. Cranial Doppler sonography can be a useful tool to evaluate cerebral hemodynamic changes in VLBW infants with sPDA. Increased RI and decreased Vd of the cerebral artery may indicate a probable sPDA, and normalization of the RI and Vd may suggest closure of the sPDA.

Anterior Cerebral Artery↗
PubMed2005

Cardiovascular changes in mucopolysaccharidoses in Taiwan.

From 1991 to 2002, we managed 72 patients with mucopolysaccharidoses. We retrospectively reviewed the records of 37 for whom detailed physical findings and cardiovascular evaluation were available. Twenty patients had serial electrocardiographic (ECG) examinations, and none had arrhythmias. All 20 patients had low R wave voltage in V6. One type VI patient had ischaemic changes secondary to severe cardiomyopathy at the terminal stage of her disease. Among the 37 patients in whom echocardiography was performed, cardiovascular abnormalities progressed with age, although most had mild clinical signs and symptoms. The most common changes were abnormalities of the mitral and aortic valves hypertrophy of the interventricular septum, especially in types I, II, and VI. During the follow-up period of up to 5 years, 3 type II patients and I type VI patient expired. In at least 3 of these patients, death was related to cardiopulmonary failure. As MPS patients are surviving longer, complete cardiac evaluation at regular intervals is mandatory and should be part of their routine assessment.

Age Distribution↗
PubMed2005

Correlation between pulmonary vascular change and hemodynamics in patients with complete atrioventricular septal defect.

BACKGROUND AND PURPOSE: The study of the pulmonary vasculature in Taiwanese with atrioventricular septal defect has not been reported previously. This study investigated the correlation between pulmonary vascular change and hemodynamics in these patients. METHODS: Ten children with complete atrioventricular defect, 8 of whom had Down syndrome, underwent open lung biopsy. Their age ranged from 8 months to 6 years (mean, 2 years 7 months). Cardiac catheterization was performed and the systolic pressures of pulmonary and systemic arteries were measured immediately before cardiopulmonary bypass (CPB) and immediately after cardiac repair in 9 patients, and expressed as a ratio of pulmonary to systemic systolic pressure (Pp/Ps). RESULTS: Medial hypertrophy and intimal proliferation were prominent in 7 patients with pulmonary hypertension. The alveolar wall muscular arteries and percent arterial medial thickness increased significantly with increasing post-repair Pp/Ps, preoperative Pp/Ps, pulmonary arteriolar resistance index and pre-CPB Pp/Ps (p < 0.02). The arteries present per 100 alveoli were inversely correlated with the above mentioned hemodynamic parameters (p < 0.02). CONCLUSIONS: The results of qualitative and quantitative analyses of the pulmonary vasculature in patients with complete atrioventricular defect correlated well with pre-and postoperative pulmonary arterial pressure and can be used to predict the postoperative pulmonary arterial pressure.

Biopsy↗
PubMed2005

Cardiac catheterization in low birth weight infants.

BACKGROUND AND PURPOSE: The increased survival of low birth weight infants means that more of these infants may be candidates for cardiac catheterization. There is a lack of data from Taiwan on the results of cardiac catheterization in these infants. This study investigated the outcome of cardiac catheterization in infants weighing less than 2500 g in a single hospital over an 11-year period. METHODS: The records of 41 infants (17 males and 24 females) weighing less than 2500 g at the time of cardiac catheterization from August 1993 to July 2004 were reviewed. Morbidity and mortality were compared between diagnostic and intervention groups. RESULTS: Interventional procedures were performed in 14 and diagnostic catheterizations in 27 infants. These interventional procedures included 5 balloon valvuloplasties for pulmonary stenosis and 1 for aortic stenosis, 1 balloon angioplasty for critical coarctation, 1 aortic valvuloplasty, 1 dilatation for coarctation plus aortic valvuloplasty, 1 temporary pacemaker implantation, and 5 balloon atrioseptostomies. The median age at catheterization was 5 days and the median weight was 2.35 kg. All diagnostic and interventional procedures were successfully performed without mortality. Complications included 2 cases each of arrhythmia, bleeding, apnea, and thromboembolism in the diagnostic group and, in the intervention group, 2 cases each of supraventricular tachycardia and bleeding, and 1 case of linear dissection of a coarctation. CONCLUSIONS: None of the 41 catheterized low birth weight infants died. Furthermore, the complication rate in the intervention group was no higher than in the diagnostic group. We conclude that cardiac catheterization, even with an interventional procedure, can be performed safely in low birth weight infants.

Cardiac Catheterization↗
PubMed2005

Balloon valvuloplasty for critical aortic stenosis in a low birth weight baby with tracheoesophageal fistula.

The use of valvuloplasty in low birth weight infants with valvular aortic stenosis has not been widely reported. We report a 1556 g 3-day-old female infant with complex heart disease including critical valvular aortic stenosis, bicuspid aortic valve, mitral stenosis, patent ductus arteriosus, and secundum type atrial septal defect. She also had esophageal atresia with a distal tracheoesophageal fistula and trisomy 18. Balloon valvuloplasty was considered to be more dangerous in this patient than in infants with simple critical aortic stenosis without other associated anomalies or low birth weight. Retrograde aortic balloon valvuloplasty was done carefully with the patient intubated and mechanically ventilated. We successfully dilated the stenotic aortic valve, which resulted in a dramatic decrease of the left ventricular pressure from 139/12 mm Hg to 81/11 mm Hg. Despite the high operative risk and poor prognosis, balloon valvuloplasty may be the first feasible step towards the survival of low birth weight infants with valvular aortic stenosis.

Aortic Valve Stenosis↗
PubMed2004

Acquired aortic regurgitation after coil occlusion of patent ductus arteriosus.

Some patients with patent ductus arteriosus (PDA) may develop new aortic regurgitation (AR) after coil occlusion. This study evaluated the risk factors for the development of AR after coil occlusion of PDA. A total of 23 patients with PDA were managed with coil embolization over a three-and-a-half-year period. Three patients with pre-embolization AR were excluded. A post-occlusion transthoracic echocardiogram was performed within 24 hours after the procedure. Ten patients developed AR and 10 did not. Gender, age, weight, body surface area (BSA), pulmonary artery pressure, and pulmonary vascular resistance did not differ significantly between the 2 groups. Both larger PDA size (either corrected for weight or BSA, p = 0.008 and 0.002, respectively) and a higher ratio of pulmonary to systemic flow (Qp/Qs) [p = 0.013] were significant risk factors for the development of AR after coil occlusion. Re-evaluation of the patients at 3 and 6 months after the procedure revealed 7 patients still had a regurgitant jet. The results of this study suggest that the larger the PDA and larger the shunt, the greater the likelihood of developing AR after coil occlusion.

Adolescent↗
PubMed2002

Horseshoe lung with pseudo-ring-sling complex.

We report on a 1-month-old boy who presented with a "horseshoe" lung, complete "O" rings of the trachea, and an unusual course of the left pulmonary artery mimicking a left pulmonary artery sling. Computed tomography, cardiac catheterization, and bronchoscopy were performed to confirm the rare coexistence of these anomalies. To our knowledge, such a combination of anomalies has not been reported in the English-language literature.

Abnormalities, Multiple↗
PubMed2002

Subclavian and pulmonary steal phenomenon in isolated left subclavian artery with left lung agenesis.

Isolated left subclavian artery has been documented to be associated with several congenital cardiac defects, including tetralogy of Fallot and transposition of the great arteries. In some cases subclavian or pulmonary artery steal phenomenon may occur when the isolated left subclavian artery connects to the main pulmonary artery via a ductus arteriosus. The isolated left subclavian artery may be part of the cardiac manifestations in multiple congenital anomalies, such as VACTERL association. We describe subclavian and pulmonary steal phenomenon in a neonate with complex congenital heart disease, including an isolated left subclavian artery, and left lung agenesis. An isolated left subclavian artery is rare and its association with agenesis of the left lung has not been reported previously.

Humans↗