A5028453560- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Aortic Disease and Treatment Approaches
- Blood disorders and treatments
- Cardiac Valve Diseases and Treatments
- Tuberculosis Research and Epidemiology
- Cardiac Structural Anomalies and Repair
- Mycobacterium research and diagnosis
- Prenatal Screening and Diagnostics
- Genetic factors in colorectal cancer
- Vascular Malformations and Hemangiomas
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
- Sepsis Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Protein Kinase Regulation and GTPase Signaling
- Glioma Diagnosis and Treatment
- Infectious Diseases and Tuberculosis
- CNS Lymphoma Diagnosis and Treatment
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Parvovirus B19 Infection Studies
- Testicular diseases and treatments
- Neurological diseases and metabolism
Thai Red Cross Society
2017-2024
Chulalongkorn University
2008-2024
King Chulalongkorn Memorial Hospital
2017-2024
University of Washington
2017
University of Washington Medical Center
2017
Einstein Medical Center Philadelphia
2013-2014
Abstract The use of rapid DNA sequencing technology in severely ill children developed countries can accurately identify diagnoses and positively impact patient outcomes. This study sought to evaluate the outcome Thai adults with unknown etiologies critical illnesses deployment whole exome (rWES) Thailand. We recruited 54 unrelated patients from 11 hospitals throughout median age was 3 months (range, 2 days–55 years) including 47 7 52% males. time obtaining blood samples issuing rWES report...
Spindle cell pseudotumors may occur due to mycobacterial infection, especially in immunocompromised hosts including those with AIDS. They have been reported from many body sites; the lymph nodes are predominantly involved, most frequently associated Mycobacterium avium complex infection. To best of our knowledge, Mycobacterium-associated spindle not previously described brain stem and association mixed infection.We describe a man AIDS who presented right hemiparesis truncal ataxia. Magnetic...
Abstract Background People with autosomal recessive disorders often were born without awareness of the carrier status their parents. The American College Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause X-linked conditions in couples seeking learn about risk having children these have an appropriate reproductive plan. Methods We analyzed exome sequencing data 1,642 unrelated Thai individuals identify pathogenic variant (PV) frequencies recommended by ACMG....
Background With the benefit of using next-generation sequencing (NGS), our aim was to examine prevalence known monogenic causes in early-onset Parkinson’s disease (EOPD) patients Thailand. The association between clinical features, such as levodopa-induced dyskinesia (LID), and genotypes were also explored. Method NGS studies carried out for EOPD Tertiary-referral center movement disorders. who had LID symptoms enrolled this study (n = 47). We defined a patient with onset PD at or below 50...
Genetic testing is widely recommended for all epithelial ovarian cancer (EOC) patients. However, an increased probability of identifying germline mutations has been reported in selected patients with risk factors such as a family history or personal and high-grade serous carcinoma (HGSC) subtype. HGSC to be the most common subtype EOC worldwide (approximately 70%). this less prevalent Thai (reported only 20%). The difference distribution various subtypes may reflect incidence patients.To...
Familial clusters of aortic dissection without connective tissue diseases are rare. We report a family with dissection, congenital iris flocculi and hypertension in the young. This suggests that this combination an uncommon familial phenotype may have common etiology.
Abstract People with autosomal recessive disorders often were born without awareness of the carrier status their parents. The American College Medical Genetics and Genomics (ACMG) recommends screening 113 genes known to cause X-linked conditions in couples seeking learn about risk having children these have an appropriate reproductive plan. Here, we analyzed exome sequencing data 1,642 unrelated Thai individuals identify pathogenic variant (PV) frequencies recommended by ACMG. ascertainment...
Carnitine palmitoyltransferase II (CPTII) deficiency is a mitochondrial fatty acid oxidation disorder that can present antenatally as congenital brain malformations, or postnatally with lethal neonatal, severe infantile, the most common adult myopathic forms. No case of hyperammonemia without liver dysfunction has been reported.We described 23-year-old man who presented to emergency department seizures and was found have markedly elevation serum ammonia. Continuous renal replacement therapy...
Abstract Objectives We sought to investigate: (1) the relationship between transthyretin (TTR) pathogenic variants and their corresponding echocardiographic atrial ventricular strains in patients with TTR cardiomyopathy (TTR-CM) clinical evidence of heart failure (HF), (2) fibrosis assessed by cardiac MRI. Methods results Fifty Asian biopsy or scintigraphy proven TTR-CM stage C D (C/D) HF were identified from an advanced clinic a tertiary-care university hospital. Genetic testing for genes...
Background: Lynch syndrome increases lifetime risk of endometrial cancer to 40-60%. Screening with molecular tumor testing for mismatch repair (MMR) proteins have been recommended. This study aims evaluate the incidence MMR deficiency and germline mutation in Thai patients. Methods: Immunohistochemistry proteins, including MLH1, MSH2, MSH6 PMS2 were tested 166 surgical specimens. Patients who had deficiencies offered genetic counseling a using gene-panel next generation sequencing. Results:...
A 52-year-old man was referred to an adult cardiovascular genetic clinic for lifelong venous tortuosity of the left leg. His medical history included recurrent deep thromboses leg and pulmonary embolism complicated by oxygen-dependent chronic thromboembolic hypertension right-sided heart failure. He taking warfarin reported no family similar conditions. On examination, crackles were noted at bibasilar lungs. The slightly longer than right leg, giant tortuous veins observed on side (figure...
Capillary malformation-arteriovenous malformation (CM-AVM) is the most common manifestation of RASA1 mutation.1 The clinical manifestations CM-AVM syndrome are varied. characteristic findings disease capillary malformations with or without other fast-flow lesions (arteriovenous [AVMs] and/or arteriovenous fistulas). However, pigmented have not been reported in associated syndrome. Here we report a case multiple lentigines patient mutation-associated
A 30-year old man with acute chest pain was diagnosed inferoposterior wall myocardial infarction following electrocardiography. After a failed coronary angiography, an echocardiogram revealed aortic intimal flap after which dissection diagnosed. The patient received successful Bentall operation without immediate complication. Retrospective examination then confirmed the diagnosis of Marfan syndrome. This case demonstrates may mimic infarction.