Review
Genetics & Heredity
Arwa Babai, Melita Irving
Summary: Orofacial clefting is a common birth defect worldwide, presenting as cleft lip only, isolated cleft palate or cleft lip and palate. It has a diverse genetic background influenced by gene-gene and gene-environment interaction, resulting in syndromic and nonsyndromic orofacial clefts. Orofacial clefts cause significant physiological difficulties, impacting feeding, speech and language development, and other developmental aspects, leading to increased social and financial burden. The management of orofacial clefts requires a multidisciplinary team approach.
Review
Biochemistry & Molecular Biology
Chirakan Charoenvicha, Wimon Sirimaharaj, Krit Khwanngern, Nipon Chattipakorn, Siriporn C. Chattipakorn
Summary: This article reviews the alterations of DNA methylation associated with the occurrence of orofacial clefts. The data has been categorized into four main groups: human blood, human tissues, animal models, and factors associated with DNA methylation. The aim is to understand the role of DNA methylation in the development of orofacial clefts and potentially find a genetic tool for early detection and prevention.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biotechnology & Applied Microbiology
Ghenwa Nasreddine, Joelle El Hajj, Michella Ghassibe-Sabbagh
Summary: Orofacial clefts rank as the second most common congenital birth defect in the United States after Down syndrome and have significant psychological and socio-economic impact on patients and their families. A complex interaction between genetic and environmental factors contributes to the incidence and clinical presentation of OFCs.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2021)
Article
Chemistry, Multidisciplinary
Mohammad Khursheed Alam, Ahmed Ali Alfawzan, Fatema Akhter, Haytham Jamil Alswairki, Prabhat Kumar Chaudhari
Summary: This study investigated the variation between non-syndromic cleft lip and/or palate (NSCLP) and non-cleft (NC) subjects in relation to lip morphology (LM) and nasolabial angle (NLA). The results showed significant disparities in LM-1 and NLA between NSCLP and NC individuals.
APPLIED SCIENCES-BASEL
(2022)
Editorial Material
Acoustics
Gabriele Tonni, Waldo Sepulveda
Summary: Orofacial clefts are commonly diagnosed in the second trimester of pregnancy through ultrasound examination. However, early diagnosis in the first trimester is challenging due to the small size of facial structures and technical limitations. This commentary suggests routine ultrasound identification of specific landmarks in the first trimester to enhance the detection of cleft lip and cleft palate.
JOURNAL OF ULTRASOUND IN MEDICINE
(2023)
Review
Dentistry, Oral Surgery & Medicine
Robert Frederick, Amy Claire Hogan, Natalie Seabolt, Rose Mary S. Stocks
Summary: This article emphasizes the benefits of a multidisciplinary team approach in the systemic management of patients with cleft lip and cleft palate, and suggests the addition of a registered dietitian to the care team. An ideal cleft palate care team should focus on a comprehensive, collaborative, and family-centered approach. While care teams may vary depending on context and location, there are still some key principles.
Article
Genetics & Heredity
Shujuan Yan, Fang Fu, Ru Li, Qiuxia Yu, Fucheng Li, Hang Zhou, You Wang, Ruibin Huang, Chunling Ma, Fei Guo, Dan Wang, Xin Yang, Jin Han, Tingyin Lei, Dongzhi Li, Can Liao
Summary: This retrospective study evaluated the use of exome sequencing (ES) for identifying genetic causes of congenital orofacial clefts (OFCs) in fetuses. The study found that clinically significant variants were identified in 11.2% of fetuses, with no significant difference between isolated cleft lip and/or palate (CL/CP) and syndromic CL/CP groups. The study highlights the importance of ES in prenatal diagnosis and expands our understanding of the genetic underpinnings of OFCs.
FRONTIERS IN GENETICS
(2023)
Article
Chemistry, Multidisciplinary
Natalia Kaczorowska, Marcin Mikulewicz
Summary: This paper examines cephalometric parameters in patients with cleft lip and palate and cleft lip, and compares the differences between these patient groups. The results show that cleft palate surgery has an effect on the forward growth of the maxilla.
APPLIED SCIENCES-BASEL
(2022)
Article
Surgery
Benjamin B. Massenburg, Richard A. Hopper, Christopher S. Crowe, Shane D. Morrison, Nivaldo Alonso, Mert Calis, Peter Donkor, Prasetyanugraheni Kreshanti, Jie Yuan
Summary: In 2017, the prevalence of orofacial clefting was estimated to be 10.8 million people, with a disease burden of 652,084 disability-adjusted life-years, mainly concentrated in low- and middle-income countries (94.1%). From 1990 to 2017, there was a significant decrease in disease burden (-70.2%) and prevalence (-4.9%). The size of the surgical workforce showed a negative logarithmic association with disease burden, indicating that strengthening the surgical workforce could help alleviate the burden of orofacial clefting.
PLASTIC AND RECONSTRUCTIVE SURGERY
(2021)
Article
Pediatrics
Jon W. Goodwin, Amy L. Conrad
Summary: Children with isolated cleft of the lip and/or palate (iCL/P) showed average performance in writing skills, with correlations to global cognitive skills rather than specific cognitive processes, unlike unaffected children with impaired reading. Further research is needed to understand the relationship between writing, reading, and cognitive processes in children with iCL/P.
PEDIATRIC RESEARCH
(2022)
Article
Multidisciplinary Sciences
Lara Slavec, Natasa Karas Kuzelicki, Igor Locatelli, Ksenija Gersak
Summary: This study systematically reviewed the relevant genetic risk factors for non-syndromic orofacial cleft (nsOFC) in populations of European ancestry. The meta-analysis identified several genetic variants in genes/loci such as IRF6, GRHL3, 8q24, VAX1, TGFA, FOXE1, ABCA4, NOG, GREM1, AXIN2, DVL2, WNT3A, and WNT5A that are strongly associated with nsOFC phenotypes. These findings suggest that these genes have high potential as biomarkers for nsOFC in European populations.
SCIENTIFIC REPORTS
(2022)
Review
Biochemistry & Molecular Biology
Anna Jaruga, Jakub Ksiazkiewicz, Krystian Kuzniarz, Przemko Tylzanowski
Summary: Many complex molecular interactions are involved in craniofacial development, making it susceptible to genetic mutations that cause congenital malformations. Orofacial clefts and prognathism are common birth anomalies within the head and neck. Both can occur as isolated abnormalities or in combination with syndromic disorders, and are often hereditary. This review summarizes current knowledge of the genetics and genotype-phenotype correlations of these phenotypes, and discusses animal models used to study these defects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Bernd Lethaus, Elisabeth Grau, Anita Kloss-Brandstaetter, Luise Brauer, Ruediger Zimmerer, Alexander K. Bartella, Sebastian Hahnel, Anna K. Sander
Summary: This study aimed to assess the therapeutic decisions resulting from an annual multidisciplinary follow-up of cleft patients. The analysis of clinical data from 1126 patients showed a high demand for interdisciplinary assessment, with treatment decisions influenced by experts of different specialties at different time points. It was concluded that specialized centers should concentrate on the therapy and checkup of cleft patients due to the importance of regular follow-up and initiation of treatment protocols.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cell Biology
Xiaofeng Li, Yu Tian, Ling Qiu, Shu Lou, Guirong Zhu, Yue Gao, Lan Ma, Yongchu Pan
Summary: This study utilized an expression quantitative trait locus (eQTL) dataset to identify multiple associations with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Functional annotation analysis showed that these risk loci were significantly enriched in transcription regulation and chromatin open regions on the genome. Additionally, these susceptible genes were closely related to cell fate determination, the pluripotency of stem cells, and Wnt signaling pathways.
Article
Immunology
Corinna L. L. Seidel, Elena Percivalle, Marco Tschaftari, Matthias Weider, Karin Strobel, Ines Willershausen, Christoph Unertl, Helga M. M. Schmetzer, Manuel Weber, Michael Schneider, Benjamin Frey, Udo S. S. Gaipl, Matthias W. W. Beckmann, Lina Goelz
Summary: The study found significantly increased levels of oral cytokines in neonates with orofacial clefts, especially at the first consultation after birth. Furthermore, a significant positive correlation was detected between cleft severity and specific pro-inflammatory mediators.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Engineering, Environmental
Krishnendu Mukhopadhyay, Deep Chakraborty, Srinivasan Natarajan, Sankar Sambandam, Kalpana Balakrishnan
Summary: This study investigated the exposure and health concerns associated with PAHs from kerosene fuel emissions in households. The most prevalent PAHs were BaP, BA, BbF, and Nap, regardless of season or location. The estimated average incremental lifetime cancer risks exceeded the USEPA level in both urban and rural households. The non-carcinogenic risk for developmental and reproductive effects was higher in rural women, particularly in the winter season. Concentrations of PAHs and exposure duration were the most sensitive factors influencing health risk estimations. Women using kerosene for cooking were recommended to switch to clean fuel to reduce health risks.
ENVIRONMENTAL GEOCHEMISTRY AND HEALTH
(2023)
Article
Environmental Sciences
Wenlu Ye, Gurusamy Thangavel, Ajay Pillarisetti, Kyle Steenland, Jennifer L. Peel, Kalpana Balakrishnan, Shirin Jabbarzadeh, William Checkley, Thomas Clasen
Summary: This study found that pregnant women exposed to household air pollution had higher blood pressure. The results suggest that exposure to PM2.5 and CO from solid fuel use is associated with elevated blood pressure in pregnant women during their first or second trimester.
ENVIRONMENTAL RESEARCH
(2022)
Article
Oncology
Nivedhyaa Srinivasaraghavan, Meenakshi V. Venketeswaran, Kalpana Balakrishnan, Thendral Ramasamy, Aishwarya Ramakrishnan, Ajit Agarwal, Arvind Krishnamurthy
Summary: This study found that over a quarter of head and neck and gastrointestinal cancer patients in India are malnourished preoperatively. The Malnutrition Universal Screening Tool (MUST) and calf circumference (CC) showed good agreement with the European Society for Clinical Nutrition and Metabolism (ESPEN) guidelines, making them suitable for identifying malnutrition upon admission.
SUPPORTIVE CARE IN CANCER
(2022)
Article
Environmental Sciences
William Checkley, Shakir Hossen, Ghislaine Rosa, Lisa M. Thompson, John P. McCracken, Anaite Diaz-Artiga, Kalpana Balakrishnan, Suzanne M. Simkovich, Lindsay J. Underhill, Laura Nicolaou, Stella M. Hartinger, Victor G. Davila-Roman, Miles A. Kirby, Thomas F. Clasen, Joshua Rosenthal, Jennifer L. Peel
Summary: HAPIN investigators perceived their intervention trial as neither highly explanatory nor overly pragmatic, with some aspects executed under real-world conditions.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Article
Peripheral Vascular Disease
Wenlu Ye, Kyle Steenland, Ashlinn Quinn, Jiawen Liao, Kalpana Balakrishnan, Ghislaine Rosa, Florien Ndagijimana, Jean de Dieu Ntivuguruzwa, Lisa M. Thompson, John P. McCracken, Anaite Diaz-Artiga, Joshua P. Rosenthal, Aris Papageorghiou, Victor G. Davila-Roman, Ajay Pillarisetti, Michael Johnson, Jiantong Wang, Laura Nicolaou, William Checkley, Jennifer L. Peel, Thomas F. Clasen
Summary: Approximately 3 to 4 billion people worldwide are exposed to household air pollution, which has been associated with increased blood pressure (BP) in pregnant women in some studies. This study recruited 3195 pregnant women in four countries and found that using gas stoves did not significantly affect gestational blood pressure.
Article
Environmental Sciences
Patrick E. Brown, Yurie Izawa, Kalpana Balakrishnan, Sze Hang Fu, Joy Chakma, Geetha Menon, Rajesh Dikshit, R. S. Dhaliwal, Peter S. Rodriguez, Guowen Huang, Rehana Begum, Howard Hu, George D'Souza, Randeep Guleria, Prabhat Jha
Summary: This retrospective cohort study provides the first-ever quantification of national mortality in India from long-term exposure to PM2.5. The results show that PM2.5 exposure levels have increased from 1999 to 2014, particularly in central and eastern India. The study finds a significant risk of stroke deaths associated with PM2.5 exposure, but no significant impact on deaths from chronic respiratory disease, ischemic heart disease, and total mortality.
ENVIRONMENTAL HEALTH PERSPECTIVES
(2022)
Article
Environmental Sciences
Michael Johnson, Ajay Pillarisetti, Ricardo Piedrahita, Kalpana Balakrishnan, Jennifer L. Peel, Kyle Steenland, Lindsay J. Underhill, Ghislaine Rosa, Miles A. Kirby, Anaite Diaz-Artiga, John McCracken, Maggie L. Clark, Lance Waller, Howard H. Chang, Jiantong Wang, Ephrem Dusabimana, Florien Ndagijimana, Sankar Sambandam, Krishnendu Mukhopadhyay, Katherine A. Kearns, Devan Campbell, Jacob Kremer, Joshua P. Rosenthal, William Checkley, Thomas Clasen, Luke Naeher
Summary: This study reports a reduction in exposure levels achieved by a liquified petroleum gas (LPG) stove and fuel intervention for pregnant women. The intervention resulted in significant decreases in PM2.5, BC, and CO exposures, with consistent results across time and locations.
ENVIRONMENTAL HEALTH PERSPECTIVES
(2022)
Article
Environmental Sciences
Laura Nicolaou, Lindsay Underhill, Shakir Hossen, Suzanne Simkovich, Gurusamy Thangavel, Ghislaine Rosa, John P. McCracken, Victor Davila-Roman, Lisa de las Fuentes, Ashlinn K. Quinn, Maggie Clark, Anaite Diaz, Ajay Pillarisetti, Kyle Steenland, Lance A. Waller, Shirin Jabbarzadeh, Jennifer L. Peel, William Checkley
Summary: The study suggests that household air pollution may contribute to elevated blood pressure levels, particularly in older women. Reducing exposure to household air pollution could help lower blood pressure, potentially reducing the global burden of disease.
ENVIRONMENTAL RESEARCH
(2022)
Article
Medicine, General & Internal
T. F. Clasen, H. H. Chang, L. M. Thompson, M. A. Kirby, K. Balakrishnan, A. Diaz-Artiga, J. P. McCracken, G. Rosa, K. Steenland, A. Younger, V. Aravindalochanan, D. B. Barr, A. Castanaza, Y. Chen, M. Chiang, M. L. Clark, S. Garg, S. Hartinger, S. Jabbarzadeh, M. A. Johnson, D. -Y. Kim, A. E. Lovvorn, E. D. McCollum, L. Monroy, L. H. Moulton, A. Mukeshimana, K. Mukhopadhyay, L. P. Naeher, F. Ndagijimana, A. Papageorghiou, R. Piedrahita, A. Pillarisetti, N. Puttaswamy, A. Quinn, U. Ramakrishnan, S. Sambandam, S. S. Sinharoy, G. Thangavel, L. J. Underhill, L. A. Waller, J. Wang, K. N. Williams, J. P. Rosenthal, W. Checkley, J. L. Peel
Summary: There was no significant difference in birth weight between infants born to women who used LPG cookstoves and those born to women who used biomass cookstoves.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Editorial Material
Green & Sustainable Science & Technology
Ajay Pillarisetti, Kalpana Balakrishnan
Summary: Anaemia is a persistent global health issue, especially in India, posing higher risks for women. A recent study found a correlation between particulate air pollution exposure and anaemia in women of reproductive age.
NATURE SUSTAINABILITY
(2022)
Article
Multidisciplinary Sciences
Karthikeyan D. Rajamani, Sankar Sambandam, Krishnendu Mukhopadhyay, Naveen Puttaswamy, Gurusamy Thangavel, Durairaj Natesan, Rengaraj Ramasamy, Saritha Sendhil, Amudha Natarajan, Vigneswari Aravindalochan, Ajay Pillarisetti, Michael Johnson, Joshua Rosenthal, Kyle Steenland, Ricardo Piedhrahita, Jennifer Peel, Maggie L. Clark, Dana Boyd Barr, Sarah Rajkumar, Bonnie Young, Shirin Jabbarzadeh, Ghislaine Rosa, Miles Kirby, Lindsay J. Underhill, Anaite Diaz-Artiga, Amy Lovvorn, William Checkley, Thomas Clasen, Kalpana Balakrishnan
Summary: This article introduces standard procedures for collecting personal exposure data on household air pollution in resource-constrained settings. The methods used here include particulate matter measurement, stove usage monitoring, ambient air pollution monitoring, and biological sample collection. These procedures have been shown to enhance data quality and can serve as a valuable resource for researchers conducting similar studies in India and other low- and middle-income countries.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2022)
Article
Acoustics
Suzanne M. Simkovich, Shakir Hossen, Eric D. McCollum, Ashley K. Toenjes, John P. McCracken, Lisa M. Thompson, Adly Castanaza, Anaite Diaz, Ghislaine Rosa, Miles A. Kirby, Alexie Mukeshimana, Rachel Myers, Patricia M. Lenzen, Rachel Craik, Shirin Jabbarzadeh, Lisa Elon, Sarada S. Garg, Kalpana Balakrishnan, Gurusamy Thangavel, Jennifer L. Peel, Thomas F. Clasen, Victor G. Davila-Roman, Aris T. Papageorghiou, Lisa de las Fuentes, William Checkley
Summary: This study used lung ultrasound (LUS) to diagnose pneumonia. By developing standardized definitions, recruiting and training sonographers, and using a blinded panel approach to interpretation, the use of LUS for pneumonia diagnosis was found to be highly reliable.
ULTRASOUND IN MEDICINE AND BIOLOGY
(2023)
Article
Primary Health Care
Sheela S. Ravinder, R. Padmavathi, K. Maheshkumar, M. Mohankumar, K. N. Maruthy, S. Sankar, Kalpana Balakrishnan
Summary: This study found a high prevalence of vitamin D deficiency among pregnant women in South India, leading to adverse health consequences for both the mother and offspring. Lack of physical activity, decreased sun exposure, darker skin complexion, lower socioeconomic status, and lack of awareness were identified as the major risk factors associated with vitamin D deficiency in this population.
JOURNAL OF FAMILY MEDICINE AND PRIMARY CARE
(2022)