Article
Cell Biology
James A. Watson, Sophie Uyoga, Perpetual Wanjiku, Johnstone Makale, Gideon M. Nyutu, Neema Mturi, Elizabeth C. George, Charles J. Woodrow, Nicholas P. J. Day, Philip Bejon, Robert O. Opoka, Arjen M. Dondorp, Chandy C. John, Kathryn Maitland, Thomas N. Williams, Nicholas J. White
Summary: Severe malaria caused by Plasmodium falciparum is difficult to accurately diagnose in children in high-transmission settings. A combination of platelet count and plasma PfHRP2 concentration can be used to identify severe falciparum malaria in severely ill patients. About one-third of children enrolled in clinical studies of severe malaria in high-transmission settings in Africa had other causes of their severe illness.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Danial Jahantigh, Saeedeh Ghazaey Zidanloo, Seyedeh Zahra Moossavi, Forough Forghani
Summary: Functional single nucleotide polymorphisms (SNPs) in the IL-12B gene can significantly affect protein expression or modify its functions, potentially leading to immune disorders. The relationship between common IL-12B SNPs and the risk of preeclampsia (PE) has been unclear. A case-control study genotyped 253 PE patients and 250 healthy subjects for IL-12B rs3212227 and IL-12B rs6887695 SNPs. In-silico analysis was also conducted to assess the potential functions of these polymorphisms. The results showed an association between the rs3212227 variation in the IL-12B gene and susceptibility to PE. The rs6887695 SNP correlated negatively with PE development and had a protective effect on PE risk. The study also found certain haplotypes of IL-12B to be more prevalent in PE patients.
Article
Environmental Sciences
Huimin Wang, Guangzhi Yang, Dawei Sun, Boshen Wang, Hao Chen, Mengyao Chen, Baoli Zhu
Summary: The study found an association between genetic polymorphisms rs10499080 and rs6568819 within the HDAC2 gene and the risk of NIHL, indicating that workers exposed to noise with HDAC2 have a lower risk of NIHL.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Article
Public, Environmental & Occupational Health
Noy Norman Kambuaya, Hasrini Rini, Putu Ayu Indra Shanti, King Alexander, Freis Candrawati, Pak Prayoga, Leo Leonardo, Dewi Sri Margayani, Bagus Tesa Gina Yayang, Enny Kenangalem, Pierre A. Buffet, Nicholas M. Anstey, Jeanne Rini Poespoprodjo, Steven Kho
Summary: In this case report, a severe case of Plasmodium vivax malaria with symptoms of hypotension, prostration, and acute kidney injury was described in a patient who had undergone splenectomy 2 months prior. The patient was successfully treated with intravenous artesunate.
AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE
(2023)
Article
Parasitology
Pornpawee Sookpongthai, Korawich Utayopas, Thassanai Sitthiyotha, Theerakamol Pengsakul, Morakot Kaewthamasorn, Kittikhun Wangkanont, Pongchai Harnyuttanakorn, Surasak Chunsrivirot, Sittiporn Pattaradilokrat
Summary: This study investigated the global diversity of Pfs25 in P. falciparum populations, identifying 11 unique haplotypes, with H1 and H2 as the major haplotypes. The distribution patterns of these haplotypes varied across different geographical populations, with limited polymorphism likely due to negative selection.
PARASITES & VECTORS
(2021)
Article
Microbiology
Jose A. Garrido-Cardenas, Lilia Gonzalez-Ceron, Federico Garcia-Maroto, Jose Cebrian-Carmona, Francisco Manzano-Agugliaro, Concepcion M. Mesa-Valle
Summary: This study analyzed fifty years of severe malaria research worldwide, revealing the research trends, patterns, and progress made in the field. The results showed a steady increase in severe malaria publications, particularly in the last decade. Most of the publications are from USA and Europe, despite the disease occurring in Africa, South-East Asia, and the Americas. The study also identified the most frequent keywords, influential journals, and authors in the field.
Article
Medicine, General & Internal
Manon Alkema, X. Zen Yap, Gerdie M. de Jong, Isaie J. Reuling, Quirijn de Mast, Reinout van Crevel, Christian F. Ockenhouse, Katharine A. Collins, Teun Bousema, Matthew B. B. McCall, Robert W. Sauerwein
Summary: Malaria infection caused by Plasmodium falciparum through mosquito bites induces stronger inflammation response in healthy volunteers compared to intravenous administration of infected red blood cells.
Article
Infectious Diseases
Samuel Odarkwei Blankson, Danielle Seri Dadje, Nadjla Traikia, Maroufou J. Alao, Serge Ayivi, Annick Amoussou, Philippe Deloron, Nicaise Tuikue Ndam, Jacqueline Milet, Leonardo K. Basco, Yaw Aniweh, Rachida Tahar
Summary: By analyzing the genetic polymorphism of ICAM-1(Kilifi) using PCR and sequencing, this study found that the ICAM-1(Kilifi) variant had a frequency of 0.27 in Beninese children, similar to other African countries. Consistent with previous research, this variant was not associated with disease severity, providing no direct evidence of a link between this polymorphism and the pathogenesis of severe and cerebral malaria.
Article
Multidisciplinary Sciences
Meraj Hashemi, Kristan A. Schneider
Summary: This study introduces a bias-corrected maximum-likelihood estimator for estimating multiplicity of infection (MOI) and pathogen-lineage frequencies. Through systematic simulation study, it is found that this method can effectively remove bias and improve the accuracy and robustness of the estimates.
Article
Nutrition & Dietetics
Yu-Min Huang, Weu Wang, Po-Pin Hsieh, Hsin-Hung Chen
Summary: The genetic effect of obesity plays a significant role in the development of an obesogenic environment. Genes rs712221 and rs2016520 are associated with obesity and show a synergistic effect, increasing the risk of obesity.
Review
Biology
Aongart Mahittikorn, Frederick Ramirez Masangkay, Kwuntida Uthaisar Kotepui, Wanida Mala, Giovanni De Jesus Milanez, Polrat Wilairatana, Manas Kotepui
Summary: This systematic review synthesized evidence on the risks of severe and profound thrombocytopenia in patients with severe non-Plasmodium falciparum malaria. The high prevalence of severe and profound thrombocytopenia, along with the associated mortality rate, suggests that severe thrombocytopenia should serve as a warning sign, especially in patients with P. vivax and P. knowlesi infections, for timely and appropriate treatment according to WHO guidelines.
Article
Chemistry, Analytical
Nikunja Kolluri, Shwetha Kamath, Patrick Lally, Mina Zanna, James Galagan, Jesse Gitaka, Moses Kamita, Mario Cabodi, Srinivasa Raju Lolabattu, Catherine M. Klapperich
Summary: In the process of malaria elimination, persistent infections may be difficult to diagnose and treat. A novel isothermal amplification assay was designed using a computational approach, which showed analytical sensitivity comparable to PCR methods in amplifying Plasmodium DNA.
ANALYTICAL CHEMISTRY
(2021)
Article
Immunology
Jean C. Digitale, Perri C. Callaway, Maureen Martin, George Nelson, Mathias Viard, John Rek, Emmanuel Arinaitwe, Grant Dorsey, Moses Kamya, Mary Carrington, Isabel Rodriguez-Barraquer, Margaret E. Feeney
Summary: The study found that HLA class I molecules play a role in restricting parasitemia caused by P. falciparum, but no HLA alleles were associated with protection from malaria. This suggests the essential role of the cellular immune response in P. falciparum immunity.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Rafal S. Sobota, Abby R. Goron, Andrea A. Berry, Jason A. Bailey, Drissa Coulibaly, Matthew Adams, Abdoulaye K. Kone, Bourema Kouriba, Ogobara K. Doumbo, Marcelo B. Sztein, Philip L. Felgner, Christopher V. Plowe, Kirsten E. Lyke, Mahamadou A. Thera, Mark A. Travassos
Summary: This study used a protein microarray to examine malaria exposure in Malian children with different severe malaria syndromes. Children with concurrent cerebral malaria and severe malarial anemia showed a broader prior parasite exposure pattern. Elevated levels of IL-6, IL-8, and IL-10 were also observed in this group. The unique pathophysiology of this severe subtype deserves further investigation.
AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE
(2022)
Review
Immunology
Cindy S. Chu, Marie Stolbrink, Daniel Stolady, Makoto Saito, Candy Beau, Kan Choun, Tha Gay Wah, Ne Mu, Klay Htoo, Be Nu, Arunrot Keereevijit, Jacher Wiladpaingern, Verena Carrara, Aung Pyae Phyo, Khin Maung Lwin, Christine Luxemburger, Stephane Proux, Prakaykaew Charunwatthana, Rose McGready, Nicholas J. White, Francois Nosten
Summary: This study reviewed all malaria cases managed by the Shoklo Malaria Research Unit along the Thailand-Myanmar border between 2000 and 2016. The results showed that Plasmodium falciparum and Plasmodium vivax malaria had higher incidence and mortality rates in this area compared to areas of low seasonal malaria transmission.
CLINICAL INFECTIOUS DISEASES
(2023)
Review
Biochemistry & Molecular Biology
Maria Edilova, Ali Akram, Ali A. Abdul-Sater
Summary: Rheumatoid arthritis is an autoimmune disease affecting about 1% of the population, with genetic and environmental factors playing key roles in its pathogenesis. While early studies focused on lymphocytes, recent research has highlighted the critical involvement of innate immune cells in the onset and progression of RA. Therapeutic approaches targeting different inflammatory pathways and immune cells, including the emerging roles of innate lymphoid cells and inflammasomes, are being explored for the treatment of RA.
BIOMEDICAL JOURNAL
(2021)
Article
Pediatrics
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon
Summary: Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder caused by deficiency of beta -hexosaminidase B (HEX-B) due to pathogenic variant of human HEXB gene. This study identified potential common variant in HEXB in Thai patients with infantile onset SD and provided data that can aid in rapid molecular confirmation of the disease.
Article
Genetics & Heredity
Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma, Chulaluck Kuptanon, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Mongkol Chanvanichtrakool, Chutima Phuaksaman, Pattara Wiromrat, Chalurmpon Srichomthong, Chupong Ittiwut, Chureerat Phokaew, Rungnapa Ittiwut, Adjima Assawapitaksakul, Wanna Chetruengchai, Aayalida Buasong, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Summary: The use of rapid DNA sequencing technology can accurately diagnose diseases and positively impact patient outcomes. In this study in Thailand, rWES was deployed to evaluate patients with unknown etiologies of critical illnesses, resulting in molecular diagnoses for 46% of patients and improved clinical outcomes for 30% of patients. The study suggests that rWES as a first-tier investigation tool can provide tremendous benefits for critically ill patients across age groups in Thailand.
Article
Cell Biology
Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
Summary: This study reported 7 male patients, 2 with WAS and 5 with XLT. Two novel gene mutations associated with WAS were identified, with both patients showing severe clinical phenotypes and one developing fatal intracranial hemorrhage, while the other developed a pineoblastoma.
Article
Pediatrics
Poomiporn Katanyuwong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
Summary: Left ventricular non-compaction (LVNC) is a rare and genetically heterogeneous cardiomyopathy that predominantly affects infants and young children. This study presents a rare case of neonatal-onset LVNC and multiple muscular VSD associated with a novel homozygous PKP2 variant. The findings expand the phenotypes and genotypes of PKP2-related disorders and lethal LVNC.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Chanita Prapasrat, Preyaporn Onsod, Veerawat Korkiatsakul, Budsaba Rerkamnuaychoke, Duangrurdee Wattanasirichaigoon, Takol Chareonsirisuthigul
Summary: This study aimed to evaluate the concordance of MS-MLPA test results with conventional techniques in the diagnosis of Prader-Willi syndrome (PWS). The results showed that there was perfect concordance between the MS-MLPA test results and those of the conventional techniques.
JOURNAL OF PEDIATRIC GENETICS
(2022)
Article
Pediatrics
Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
Summary: Transcobalamin deficiency should be considered in infants with unexplained pancytopenia and acute hemolytic crisis. A novel homozygous TCN2 mutation was identified in a patient, highlighting the importance of genetic testing in diagnosis.
Article
Cell & Tissue Engineering
Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas
Summary: In this study, a human induced pluripotent stem cell line for Gaucher disease was established, providing a valuable tool for further investigations.
STEM CELL RESEARCH
(2022)
Article
Genetics & Heredity
Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, Sasikarn Pakdeeto, Piangor Watcharakuldilok, Chatchay Prempunpong, Thipwimol Tim-Aroon, Chawintee Puttanapitak, Piyawan Wattanasoontornsakul, Thitiporn Junhasavasdikul, Parith Wongkittichote, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon
Summary: This study used whole exome sequencing and targeted gene analysis to determine the clinical features and genetic defects in five patients with EB with CAS. The study identified extremely rare phenotypes, such as congenital cloudy cornea, esophagogastric obstruction, and anuria, and expanded the genotypic spectrum of EB-related genes.
FRONTIERS IN GENETICS
(2022)
Article
Pediatrics
Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna
Summary: This study did not find associations between mtDNA polymorphisms 16519T and 3010A with CVS in pediatric patients. However, it identified five pathogenic variants and eleven VUS that were associated with pediatric-onset CVS.
FRONTIERS IN PEDIATRICS
(2022)
Letter
Hematology
Lunliya Thampratankul, Yusuke Okuno, Patcharee Komvilaisak, Duangrurdee Wattanasirichaigoon, Nongnuch Sirachainan
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Lukana Ngiwsara, Phannee Sawangareetrakul, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Prapai Dejkhamron, Voraratt Champattanachai, James R. Ketudat-Cairns, Jisnuson Svasti
Summary: This study investigated the effect of gentamicin on stop codon readthrough of IDUA variants and found that gentamicin significantly increased the expression and activity of IDUA. Changes in RNA secondary structure were observed in variants that responded to readthrough. Further studies in patient's skin fibroblasts and animal models are needed for personalized medicine.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Oncology
Usanarat Anurathapan, Thipwimol Tim-Aroon, Wujuan Zhang, Watinee Sanpote, Siranee Wongrungsri, Nitcha Khunin, Somchai Chutipongtanate, Vilawan Chirdkiatgumchai, Lukana Ngiwsara, Suphaneewan Jaovisidha, Arthaporn Khongkraparn, Samart Pakakasama, Jisnuson Svasti, Kenneth D. R. Setchell, Duangrurdee Wattanasirichaigoon, Suradej Hongeng
Summary: Combination therapy of ERT followed by HSCT could be considered as an alternative treatment for patients with neuronopathic Gaucher disease (GD3) who have a high risk of fatal neurological progression.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Genetics & Heredity
Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon
Summary: Newborn screening is a public health service used in many countries to screen for treatable conditions, including Thailand. Limited data on parental perspectives and the socio-cultural and economic differences between Western and Asian countries prompted a study to explore parental perspectives on newborn screening in Thailand. The study found that there is good awareness but limited knowledge among parents, and suggests the need for appropriate education during antenatal care.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2023)
Article
Allergy
Chawisa Janjindamai, Wiparat Manuyakorn, Usanarat Anurathapan, Samart Pakakasama, Duangrurdee Wattanasirichaigoon, Wasu Kamchaisatian, Suwat Benjaponpitak, Suradej Hongeng
Summary: Haploidentical HSCT with PTCY may be an effective treatment option for children with CGD.
ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
(2022)
