Manop Pithukpakorn | Mahidol University (original) (raw)

Papers by Manop Pithukpakorn

Research paper thumbnail of Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome

PloS one, 2017

Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults wi... more Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015. The coding sequences of 98 SUDS-related genes were sequenced using WES. Potentially causative variants were filtered based on the variant functions annotated in the dbNSFP database. Variants with inconclusive clinical significance evidence in ClinVar were resolved with a variant prediction algorithm, metaSVM, and the frequency data of the variants found in public databases, such as the 1000 Genome Project, ESP6500 project, and the...

Research paper thumbnail of Germline ATM mutation and somatic PIK3CA and BCOR mutations found in an infant with aggressive orbital embryonal rhabdomyosarcoma

American Journal of Ophthalmology Case Reports

Research paper thumbnail of HLA‐B*27:04 associated with enthesitis and younger age of onset, and HLA‐B allele profile in patients with ankylosing spondylitis in Thailand: A cross‐sectional study

International Journal of Rheumatic Diseases

Research paper thumbnail of Clinical outcome and laboratory markers for predicting disease activity in patients with disseminated opportunistic infections associated with anti-interferon-γ autoantibodies

PLOS ONE

Background Clinical courses and treatment outcomes are largely unknown in patients with adult-ons... more Background Clinical courses and treatment outcomes are largely unknown in patients with adult-onset immunodeficiency associated with anti-interferon-gamma autoantibodies due to the fact that it was recently recognized and anti-IFN-γ auto-Abs detection is not widely available.

Research paper thumbnail of High Frequency of KRAS Codon 146 and FBXW7 Mutations in Thai Patients with Stage II-III Colon Cancer

Asian Pacific Journal of Cancer Prevention

Colorectal cancer (CRC) is the third most common cancer worldwide, and the second most common cau... more Colorectal cancer (CRC) is the third most common cancer worldwide, and the second most common cause of cancer-related mortality (Bray et al., 2018). It is well established that colorectal tumorigenesis is a multistep process that involves an accumulation of multiple, successive genetic alterations, including chromosomal abnormalities, gene mutations, and/or epigenetic changes, that transform normal colonic epithelium to colorectal carcinoma (Vogelstein et al, 1988). APC, TP53, RAS, RAF, and PIK3CA gene mutations are the most commonly reported genetic aberrations in metastatic CRC (mCRC). The prognostic and predictive implications of certain aberrations, including RAF, RAS, and deficient mismatch repair (dMMR), are well established in CRC, and are now routinely assessed as a component of clinical

Research paper thumbnail of Precision medicine in Thailand

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Research paper thumbnail of Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient

Stem cell research, 2018

Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia ty... more Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia type 3 (SCA3). Fibroblasts were reprogrammed by nucleofection with episomal plasmids, carrying L-MYC, LIN28, OCT4, SOX2, KLF4, EBNA-1 and shRNA against p53. The SCA3 patient-specific iPSC line, MUSIi004-A, was characterized by immunofluorescence staining to verify the expression of pluripotent markers. The iPSC line exhibited an ability to differentiate into three germ layers by embryoid body (EB) formation. Karyotypic analysis of the MUSIi004-A line was normal. The mutant allele was still present in the iPSC line. This iPSC line represents a useful tool for studying neurodegeneration in SCA3.

Research paper thumbnail of Laboratory Markers for Predicting Disease Activity in Patients With Disseminated Opportunistic Infections and Autoantibodies to Interferon- γ

Open Forum Infectious Diseases

Research paper thumbnail of Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome

PloS one, 2017

Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults wi... more Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015. The coding sequences of 98 SUDS-related genes were sequenced using WES. Potentially causative variants were filtered based on the variant functions annotated in the dbNSFP database. Variants with inconclusive clinical significance evidence in ClinVar were resolved with a variant prediction algorithm, metaSVM, and the frequency data of the variants found in public databases, such as the 1000 Genome Project, ESP6500 project, and the...

Research paper thumbnail of Factors associated with acquired Anti IFN- γ autoantibody in patients with nontuberculous mycobacterial infection

PLOS ONE, 2017

Background The clinical syndrome of disseminated nontuberculous mycobacterial (NTM) infection in ... more Background The clinical syndrome of disseminated nontuberculous mycobacterial (NTM) infection in patients who were previously healthy is now well recognized to be associated with an acquired autoantibody to Interferon gamma (Anti IFNγ autoantibody). However, the risk factors of this syndrome remain unknown. Method We performed an unmatched case control study among patients with NTM diseases who were diagnosed and treated at Siriraj Hospital, Bangkok, Thailand. Anti-IFN autoantibody was detected by enzyme-linked immunosorbent assay (ELISA) method. Cases were patients with NTM diseases and detectable anti IFNγ autoantibody. Controls were randomly selected from those with undetectable anti IFNγ autoantibody. Data from both groups including demographic data, clinical presentation, laboratory results, other risk factors and HLA genotypes were collected. Univariate and multivariate analyses were performed to identify independent risk factors for this syndrome. Results 70 cases (mean age 50 ± 11 years) and 70 controls (mean age 58 ± 18 years) were enrolled into the study. Mycobacterial abscessus was the most common NTM pathogen found in both groups (72.9% in cases and 41.4% in controls respectively). However, disseminated NTM disease was significantly more common in cases (92.9%) than in the controls (14.3%, p<0.001). Binary logistic regression analysis showed that previous OIs (adjusted OR14.87, 95% CI 2.36-93.86), birthplace outside Central region (adjusted OR 19.19, 95% CI 3.86-95.35), lack of comorbidities lead to immunosuppression, such as HIV infection or diabetes

Research paper thumbnail of Molecular Genetics of Stroke

Siriraj Medical Journal สารศิริราช, Aug 5, 2011

Research paper thumbnail of Hereditary Leiomyomatosis and Renal Cell Cancer

Clinical characteristics FH tumor predisposition syndrome is characterized by cutaneous leiomyoma... more Clinical characteristics FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years. Diagnosis/testing Diagnosis of FH tumor predisposition syndrome is established by identification of a heterozygous pathogenic variant in FH. Management Treatment of manifestations: Surgical excision, carbon dioxide laser, cryotherapy, or electrodessication to remove painful cutaneous leiomyomas. Medications are used as an adjunct for pain relief, and may include drugs that lead to vasodilation (e.g., nitroglycerin, nifedipine, phenoxybenzamine, doxazosin) and/or drugs for neuropathic pain (e.g., gabapentin, pregabalin, duloxetine). Treatment of uterine fibroids can include gonadotropin-releasing hormone agonists, antihormonal medications, intrauterine devices releasing progesterone, myomectomy, and hysterectomy. Consultation with a urologic oncology surgeon familiar with this syndrome should be sought for kidney tumors. Total or partial nephrectomy with wide margins may be carefully considered in some settings.

Research paper thumbnail of Can we predict final outcome of internal medicine residents with in-training evaluation

Journal of the Medical Association of Thailand Chotmaihet Thangphaet, Feb 1, 2011

To assess the predictive value of in-training evaluation for determining future success in the in... more To assess the predictive value of in-training evaluation for determining future success in the internal medicine board certifying examination. Ninety-seven internal medicine residents from Faculty of Medicine Siriraj Hospital who undertake the Thai Board examination during the academic year 2006-2008 were enrolled. Correlation between the scores during internal medicine rotation and final scores in board examination were then examined. Significant positive linear correlation was found between scores from both written and clinical parts of board certifying examination and scores from the first-year summative written and clinical examinations and also the second-year formative written examination (r = 0.43-0.68, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). Monthly evaluation by attending staffs was less well correlated (r = 0.29-0.36) and the evaluation by nurses or medical students demonstrated inverse relationship (r = -0.2, p = 0.27 and r = -0.13, p = 0.48). Some methods of in-training evaluation can predict successful outcome of board certifying examination. Multisource assessments cannot well extrapolate some aspects of professional competences and qualities.

Research paper thumbnail of A successful endovascular treatment for complicated acute type B aortic dissection

Research paper thumbnail of Novel Mutation of the <b><i>TINF2</i></b> Gene in a Patient with Dyskeratosis Congenita

Case Reports in Dermatology, 2015

Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin p... more Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2 and TERC by direct DNA sequencing in a Thai patient with DKC. We identified a novel mutation (c.845G>T) that is located in exon 6 of TINF2 and changes an arginine to leucine (Arg282Leu). This identified mutation could be applied for molecular genetic diagnosis and genetic counseling of patients with DKC.

Research paper thumbnail of HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies

PLOS ONE, 2015

Recently a newly identified clinical syndrome of disseminated non-tuberculous mycobacterial disea... more Recently a newly identified clinical syndrome of disseminated non-tuberculous mycobacterial diseases (with or without other opportunistic infections in adult patients who were previously healthy, has been recognized in association with an acquired autoantibody to interferon-gamma. This syndrome is emerging as an important cause of morbidity and mortality, especially among people of Asian descent. Trigger for the production of this autoantibody remains unknown, but genetic factors are strongly suspected to be involved. We compared HLA genotyping between 32 patients with this clinical syndrome, and 38 controls. We found that this clinical syndrome was associated with very limited allele polymor

Research paper thumbnail of Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011

A Thai 37-years-old man presented with adult onset progressive proximal muscle weakness and gener... more A Thai 37-years-old man presented with adult onset progressive proximal muscle weakness and generalized myalgia. Family history showed similar symptoms in several male relatives, compatible with X-linked recessive inheritance. Electromyography suggested myopathic process. Serum creatine kinase was highly elevated. Diagnosis of Becker muscular dystrophy (BMD) was confirmed by genetic testing. His symptoms responded well to steroid treatment. This report is of the first Thai patient with atypical presentation of BMD.

Research paper thumbnail of Can we predict final outcome of internal medicine residents with in-training evaluation

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011

To assess the predictive value of in-training evaluation for determining future success in the in... more To assess the predictive value of in-training evaluation for determining future success in the internal medicine board certifying examination. Ninety-seven internal medicine residents from Faculty of Medicine Siriraj Hospital who undertake the Thai Board examination during the academic year 2006-2008 were enrolled. Correlation between the scores during internal medicine rotation and final scores in board examination were then examined. Significant positive linear correlation was found between scores from both written and clinical parts of board certifying examination and scores from the first-year summative written and clinical examinations and also the second-year formative written examination (r = 0.43-0.68, p < 0.001). Monthly evaluation by attending staffs was less well correlated (r = 0.29-0.36) and the evaluation by nurses or medical students demonstrated inverse relationship (r = -0.2, p = 0.27 and r = -0.13, p = 0.48). Some methods of in-training evaluation can predict su...

Research paper thumbnail of Genetic polymorphism of low-density lipoprotein receptor did not affect treatment outcome of chronic hepatitis C genotype 3

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011

The low-density lipoprotein receptor (LDL-R) has been proposed to function as a receptor for the ... more The low-density lipoprotein receptor (LDL-R) has been proposed to function as a receptor for the hepatitis C virus (HCV) entry. Polymorphism of LDL-R gene may influence the clearance of virus and response to treatment. This study was conducted to evaluate the association of LDL-R gene polymorphism and the response to antiviral treatment in patients with chronic HCV infection. A total of 112 naïve patients with HCV genotype 3 were enrolled in the study. All patients were treated with a combination of pegylated interferon and ribavirin for 24 weeks. Polymerase chain reaction combined with restriction fragment length polymorphism was used to detect the polymorphism at the LDL-R gene intron 11 loci, including intron1, intron 3.1, intron 3.2, intron 4, intron 6, exon 8, intron 11, intron 13, intron 14 and 3'UTR-2 SNPs in intron 16 region. Comparisons of genotype and allele frequency between responders and nonresponders were analyzed. Patients had a mean age of 54 years and 43% were m...

Research paper thumbnail of von Hippel-Lindau syndrome

Research paper thumbnail of Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome

PloS one, 2017

Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults wi... more Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015. The coding sequences of 98 SUDS-related genes were sequenced using WES. Potentially causative variants were filtered based on the variant functions annotated in the dbNSFP database. Variants with inconclusive clinical significance evidence in ClinVar were resolved with a variant prediction algorithm, metaSVM, and the frequency data of the variants found in public databases, such as the 1000 Genome Project, ESP6500 project, and the...

Research paper thumbnail of Germline ATM mutation and somatic PIK3CA and BCOR mutations found in an infant with aggressive orbital embryonal rhabdomyosarcoma

American Journal of Ophthalmology Case Reports

Research paper thumbnail of HLA‐B*27:04 associated with enthesitis and younger age of onset, and HLA‐B allele profile in patients with ankylosing spondylitis in Thailand: A cross‐sectional study

International Journal of Rheumatic Diseases

Research paper thumbnail of Clinical outcome and laboratory markers for predicting disease activity in patients with disseminated opportunistic infections associated with anti-interferon-γ autoantibodies

PLOS ONE

Background Clinical courses and treatment outcomes are largely unknown in patients with adult-ons... more Background Clinical courses and treatment outcomes are largely unknown in patients with adult-onset immunodeficiency associated with anti-interferon-gamma autoantibodies due to the fact that it was recently recognized and anti-IFN-γ auto-Abs detection is not widely available.

Research paper thumbnail of High Frequency of KRAS Codon 146 and FBXW7 Mutations in Thai Patients with Stage II-III Colon Cancer

Asian Pacific Journal of Cancer Prevention

Colorectal cancer (CRC) is the third most common cancer worldwide, and the second most common cau... more Colorectal cancer (CRC) is the third most common cancer worldwide, and the second most common cause of cancer-related mortality (Bray et al., 2018). It is well established that colorectal tumorigenesis is a multistep process that involves an accumulation of multiple, successive genetic alterations, including chromosomal abnormalities, gene mutations, and/or epigenetic changes, that transform normal colonic epithelium to colorectal carcinoma (Vogelstein et al, 1988). APC, TP53, RAS, RAF, and PIK3CA gene mutations are the most commonly reported genetic aberrations in metastatic CRC (mCRC). The prognostic and predictive implications of certain aberrations, including RAF, RAS, and deficient mismatch repair (dMMR), are well established in CRC, and are now routinely assessed as a component of clinical

Research paper thumbnail of Precision medicine in Thailand

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Research paper thumbnail of Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient

Stem cell research, 2018

Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia ty... more Dermal fibroblasts were obtained from a 48-year-old female patient with spinocerebellar ataxia type 3 (SCA3). Fibroblasts were reprogrammed by nucleofection with episomal plasmids, carrying L-MYC, LIN28, OCT4, SOX2, KLF4, EBNA-1 and shRNA against p53. The SCA3 patient-specific iPSC line, MUSIi004-A, was characterized by immunofluorescence staining to verify the expression of pluripotent markers. The iPSC line exhibited an ability to differentiate into three germ layers by embryoid body (EB) formation. Karyotypic analysis of the MUSIi004-A line was normal. The mutant allele was still present in the iPSC line. This iPSC line represents a useful tool for studying neurodegeneration in SCA3.

Research paper thumbnail of Laboratory Markers for Predicting Disease Activity in Patients With Disseminated Opportunistic Infections and Autoantibodies to Interferon- γ

Open Forum Infectious Diseases

Research paper thumbnail of Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome

PloS one, 2017

Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults wi... more Sudden unexpected death syndrome (SUDS) is an important cause of death in young healthy adults with a high incident rate in Southeast Asia; however, there are no molecular autopsy reports about these victims. We performed a combination of both a detailed autopsy and a molecular autopsy by whole exome sequencing (WES) to investigate the cause of SUDS in Thai sudden death victims. A detailed forensic autopsy was performed to identify the cause of death, followed by a molecular autopsy, in 42 sudden death victims who died between January 2015 and August 2015. The coding sequences of 98 SUDS-related genes were sequenced using WES. Potentially causative variants were filtered based on the variant functions annotated in the dbNSFP database. Variants with inconclusive clinical significance evidence in ClinVar were resolved with a variant prediction algorithm, metaSVM, and the frequency data of the variants found in public databases, such as the 1000 Genome Project, ESP6500 project, and the...

Research paper thumbnail of Factors associated with acquired Anti IFN- γ autoantibody in patients with nontuberculous mycobacterial infection

PLOS ONE, 2017

Background The clinical syndrome of disseminated nontuberculous mycobacterial (NTM) infection in ... more Background The clinical syndrome of disseminated nontuberculous mycobacterial (NTM) infection in patients who were previously healthy is now well recognized to be associated with an acquired autoantibody to Interferon gamma (Anti IFNγ autoantibody). However, the risk factors of this syndrome remain unknown. Method We performed an unmatched case control study among patients with NTM diseases who were diagnosed and treated at Siriraj Hospital, Bangkok, Thailand. Anti-IFN autoantibody was detected by enzyme-linked immunosorbent assay (ELISA) method. Cases were patients with NTM diseases and detectable anti IFNγ autoantibody. Controls were randomly selected from those with undetectable anti IFNγ autoantibody. Data from both groups including demographic data, clinical presentation, laboratory results, other risk factors and HLA genotypes were collected. Univariate and multivariate analyses were performed to identify independent risk factors for this syndrome. Results 70 cases (mean age 50 ± 11 years) and 70 controls (mean age 58 ± 18 years) were enrolled into the study. Mycobacterial abscessus was the most common NTM pathogen found in both groups (72.9% in cases and 41.4% in controls respectively). However, disseminated NTM disease was significantly more common in cases (92.9%) than in the controls (14.3%, p<0.001). Binary logistic regression analysis showed that previous OIs (adjusted OR14.87, 95% CI 2.36-93.86), birthplace outside Central region (adjusted OR 19.19, 95% CI 3.86-95.35), lack of comorbidities lead to immunosuppression, such as HIV infection or diabetes

Research paper thumbnail of Molecular Genetics of Stroke

Siriraj Medical Journal สารศิริราช, Aug 5, 2011

Research paper thumbnail of Hereditary Leiomyomatosis and Renal Cell Cancer

Clinical characteristics FH tumor predisposition syndrome is characterized by cutaneous leiomyoma... more Clinical characteristics FH tumor predisposition syndrome is characterized by cutaneous leiomyomata, uterine leiomyomata (fibroids), and/or renal tumors. Pheochromocytoma and paraganglioma have also been described in a small number of families. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 30 years, increasing in size and number with age. Uterine leiomyomata tend to be numerous and large; age at diagnosis ranges from 18 to 53 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors are usually unilateral, solitary, and aggressive. They are associated with poor survival due to clinical aggressiveness and propensity to metastasize despite small primary tumor size. The median age of detection is approximately age 40 years. Diagnosis/testing Diagnosis of FH tumor predisposition syndrome is established by identification of a heterozygous pathogenic variant in FH. Management Treatment of manifestations: Surgical excision, carbon dioxide laser, cryotherapy, or electrodessication to remove painful cutaneous leiomyomas. Medications are used as an adjunct for pain relief, and may include drugs that lead to vasodilation (e.g., nitroglycerin, nifedipine, phenoxybenzamine, doxazosin) and/or drugs for neuropathic pain (e.g., gabapentin, pregabalin, duloxetine). Treatment of uterine fibroids can include gonadotropin-releasing hormone agonists, antihormonal medications, intrauterine devices releasing progesterone, myomectomy, and hysterectomy. Consultation with a urologic oncology surgeon familiar with this syndrome should be sought for kidney tumors. Total or partial nephrectomy with wide margins may be carefully considered in some settings.

Research paper thumbnail of Can we predict final outcome of internal medicine residents with in-training evaluation

Journal of the Medical Association of Thailand Chotmaihet Thangphaet, Feb 1, 2011

To assess the predictive value of in-training evaluation for determining future success in the in... more To assess the predictive value of in-training evaluation for determining future success in the internal medicine board certifying examination. Ninety-seven internal medicine residents from Faculty of Medicine Siriraj Hospital who undertake the Thai Board examination during the academic year 2006-2008 were enrolled. Correlation between the scores during internal medicine rotation and final scores in board examination were then examined. Significant positive linear correlation was found between scores from both written and clinical parts of board certifying examination and scores from the first-year summative written and clinical examinations and also the second-year formative written examination (r = 0.43-0.68, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). Monthly evaluation by attending staffs was less well correlated (r = 0.29-0.36) and the evaluation by nurses or medical students demonstrated inverse relationship (r = -0.2, p = 0.27 and r = -0.13, p = 0.48). Some methods of in-training evaluation can predict successful outcome of board certifying examination. Multisource assessments cannot well extrapolate some aspects of professional competences and qualities.

Research paper thumbnail of A successful endovascular treatment for complicated acute type B aortic dissection

Research paper thumbnail of Novel Mutation of the <b><i>TINF2</i></b> Gene in a Patient with Dyskeratosis Congenita

Case Reports in Dermatology, 2015

Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin p... more Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2 and TERC by direct DNA sequencing in a Thai patient with DKC. We identified a novel mutation (c.845G>T) that is located in exon 6 of TINF2 and changes an arginine to leucine (Arg282Leu). This identified mutation could be applied for molecular genetic diagnosis and genetic counseling of patients with DKC.

Research paper thumbnail of HLA-DRB1 and HLA-DQB1 Are Associated with Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies

PLOS ONE, 2015

Recently a newly identified clinical syndrome of disseminated non-tuberculous mycobacterial disea... more Recently a newly identified clinical syndrome of disseminated non-tuberculous mycobacterial diseases (with or without other opportunistic infections in adult patients who were previously healthy, has been recognized in association with an acquired autoantibody to interferon-gamma. This syndrome is emerging as an important cause of morbidity and mortality, especially among people of Asian descent. Trigger for the production of this autoantibody remains unknown, but genetic factors are strongly suspected to be involved. We compared HLA genotyping between 32 patients with this clinical syndrome, and 38 controls. We found that this clinical syndrome was associated with very limited allele polymor

Research paper thumbnail of Unusual presentation as an adult onset painful myopathy in a Thai patient with Becker muscular dystrophy

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011

A Thai 37-years-old man presented with adult onset progressive proximal muscle weakness and gener... more A Thai 37-years-old man presented with adult onset progressive proximal muscle weakness and generalized myalgia. Family history showed similar symptoms in several male relatives, compatible with X-linked recessive inheritance. Electromyography suggested myopathic process. Serum creatine kinase was highly elevated. Diagnosis of Becker muscular dystrophy (BMD) was confirmed by genetic testing. His symptoms responded well to steroid treatment. This report is of the first Thai patient with atypical presentation of BMD.

Research paper thumbnail of Can we predict final outcome of internal medicine residents with in-training evaluation

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011

To assess the predictive value of in-training evaluation for determining future success in the in... more To assess the predictive value of in-training evaluation for determining future success in the internal medicine board certifying examination. Ninety-seven internal medicine residents from Faculty of Medicine Siriraj Hospital who undertake the Thai Board examination during the academic year 2006-2008 were enrolled. Correlation between the scores during internal medicine rotation and final scores in board examination were then examined. Significant positive linear correlation was found between scores from both written and clinical parts of board certifying examination and scores from the first-year summative written and clinical examinations and also the second-year formative written examination (r = 0.43-0.68, p < 0.001). Monthly evaluation by attending staffs was less well correlated (r = 0.29-0.36) and the evaluation by nurses or medical students demonstrated inverse relationship (r = -0.2, p = 0.27 and r = -0.13, p = 0.48). Some methods of in-training evaluation can predict su...

Research paper thumbnail of Genetic polymorphism of low-density lipoprotein receptor did not affect treatment outcome of chronic hepatitis C genotype 3

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2011

The low-density lipoprotein receptor (LDL-R) has been proposed to function as a receptor for the ... more The low-density lipoprotein receptor (LDL-R) has been proposed to function as a receptor for the hepatitis C virus (HCV) entry. Polymorphism of LDL-R gene may influence the clearance of virus and response to treatment. This study was conducted to evaluate the association of LDL-R gene polymorphism and the response to antiviral treatment in patients with chronic HCV infection. A total of 112 naïve patients with HCV genotype 3 were enrolled in the study. All patients were treated with a combination of pegylated interferon and ribavirin for 24 weeks. Polymerase chain reaction combined with restriction fragment length polymorphism was used to detect the polymorphism at the LDL-R gene intron 11 loci, including intron1, intron 3.1, intron 3.2, intron 4, intron 6, exon 8, intron 11, intron 13, intron 14 and 3'UTR-2 SNPs in intron 16 region. Comparisons of genotype and allele frequency between responders and nonresponders were analyzed. Patients had a mean age of 54 years and 43% were m...

Research paper thumbnail of von Hippel-Lindau syndrome