Review
Biochemistry & Molecular Biology
De-Li Shi
Summary: Gastrulation and neurulation are crucial morphogenetic processes involving cellular and molecular mechanisms to shape the embryonic body plan. Planar cell polarity proteins play a significant role in regulating these processes and their mutation can lead to various developmental defects and congenital diseases.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Nutrition & Dietetics
Juan Antonio Cordero-Varela, Marta Reyes-Corral, Miguel Lao-Perez, Beatriz Fernandez-Santos, Fernando Montenegro-Elvira, Lluis Sempere, Patricia Ybot-Gonzalez
Summary: Adequate nutrient supply is crucial for embryonic development, and both maternal diet and gut microbiota play a role in nutrient availability. The study of a mouse model suggests that gut microbiota is associated with folic acid and inositol supplementation and may affect nutrient absorption.
Article
Biochemistry & Molecular Biology
Manni Sun, Jinlan Gao, Tao Meng, Shenghuan Liu, Haiying Chen, Qi Liu, Xuesha Xing, Chenyang Zhao, Yang Luo
Summary: This study reveals that CCNG2 inhibits the Wnt/PCP-JNK signaling pathway by promoting the ubiquitination degradation of Dvl2 protein, thus modulating trophoblastic cell function and potentially providing new therapeutic strategies for PE.
Article
Biochemistry & Molecular Biology
Aiyun Yang, Shen Li, Yan Zhang, Xiuwei Wang, Zhen Guan, Zhiqiang Zhu, Yingchao Liang, Lijiao Zhao, Jianhua Wang
Summary: Neural-tube defects (NTDs) are serious birth defects, and inositol deficiency is closely related to their occurrence. The activation of the BMP/Smad signaling pathway might play an important role in the development of NTDs induced by maternal Li2CO3 exposure via inositol deficiency.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Health Care Sciences & Services
Ahmad K. Almekkawi, Marwa W. AlJardali, Hicham M. Daadaa, Alison L. Lane, Ashley R. Worner, Mohammad A. Karim, Adrienne C. Scheck, Richard E. Frye
Summary: Neural tube defects (NTDs) are congenital abnormalities in the central nervous system. SNPs in the folate pathway genes MTHFR, MTRR, and RFC are highly associated with NTD risk, especially in the Asian population. Further high-quality research from diverse ethnicities is needed to gain a more comprehensive understanding of the role of folate metabolism in NTDs.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Oncology
Meng Zhang, Dan Wang, Lan Su, Jingjiao Ma, Sizhen Wang, Meng Cui, Shunming Hong, Bing Guan, Xiaodong Ma
Summary: The study thoroughly characterized the activity of the Wnt/PCP regulation pathway in low-grade glioma (LGG) patients, revealing three subgroups with significant survival differences and distinct genomic characteristics. Each subgroup had different genetic features, with C1 enriched in CIC truncating mutations and 1p19q codel, C2 characterized by TP53 and ATRX inactivating mutations but lacking TERT promoter mutations, and C3 showing the worst survival outcome and elevated malignancy.
FRONTIERS IN ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Tian Tian, Xinyuan Lai, Kuanhui Xiang, Xiao Han, Shengju Yin, Robert M. Cabrera, John W. Steele, Yunping Lei, Xuanye Cao, Richard H. Finnell, Linlin Wang, Aiguo Ren
Summary: The study identified significantly higher methylation levels of CHRM1, FGF19, and ITGA7 genes in NTD patients, which were associated with an increased risk for NTDs. Down-regulation of these genes affected the formation and differentiation of neural cells, suggesting their role in NTD development.
Review
Neurosciences
Maisa I. Alkailani, Mohamed Aittaleb, Fadel Tissir
Summary: Neurogenesis and tumorigenesis share common signaling molecules and pathways involved in cell proliferation, differentiation, migration, and death. Abnormalities in these molecular mechanisms can lead to tumor formation and progression.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Multidisciplinary Sciences
Aynalem Gashaw, Sisay Shine, Osman Yimer, Melat Wodaje
Summary: A hospital-based case-control study in North Shoa Zone Hospitals identified factors such as family annual income less than 24,000ETB, history of still birth, history of abortion, preconception tea use, and pesticides/chemical exposure to be positively associated with neural tube defects. Conversely, preconception care and taking iron/folic acid/multivitamin during pregnancy showed a protective effect against neural tube defects.
Article
Multidisciplinary Sciences
Muhammad Zubayr Saib, Barnesh Lalloo Dhada, Colleen Aldous, Helen Louise Malherbe
Summary: This study aimed to address the lack of data on congenital anomalies in South Africa, finding a birth prevalence rate of 15.57 per 1,000 live births at Edendale Hospital, with musculoskeletal system anomalies being the most common.
Article
Nutrition & Dietetics
Tian Tian, Jinming Liu, Xinchen Lu, Xinghua Qiu, Jing Wei, Chengrong Wang, Mengyuan Liu, Shengju Yin, Lei Jin, Linlin Wang, Zhiwen Li, Tong Zhu, Aiguo Ren
Summary: This study explores the association between selected essential trace elements (ETEs) and metabolic pathway markers in maternal serum and the likelihood of Neural Tube Defects (NTDs). The results suggest that higher concentrations of selenium (Se) are associated with a decreased chance of NTDs, while certain metabolic pathway markers are associated with an increased risk of NTDs. The study also suggests that the arginine pathway may mediate the association between Se and NTD occurrence.
CLINICAL NUTRITION
(2022)
Article
Genetics & Heredity
Li Zhang, Rui Cao, Dandan Li, Yuqing Sun, Juan Zhang, Xiuwei Wang, Ajab Khan, Zhizhen Liu, Bo Niu, Jun Xu, Jun Xie
Summary: This study investigates the function and mechanism of m6A modification in NTDs, showing that SAM plays a significant role in neural tube development and regulation, and METTL3 knockdown inhibits cell proliferation and increases apoptosis. The overexpression of ALKBH5 only inhibits cell proliferation in NTDs.
EPIGENETICS & CHROMATIN
(2021)
Article
Genetics & Heredity
Yalan Wang, Yue Qin, Rui Peng, Hongyan Wang
Summary: This study identified novel VCL variations specific to human NTDs, with p.D256fs being a loss-of-function variant and p.L555V showing a gain of function in PCP pathway regulation and cell migration.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Public, Environmental & Occupational Health
Vijaya Kancherla, Lorenzo D. Botto, Laura A. Rowe, Nathan A. Shlobin, Adrian Caceres, Anastasia Arynchyna-Smith, Kathrin Zimmerman, Jeffrey Blount, Zewdie Kibruyisfaw, Kemel A. Ghotme, Santosh Karmarkar, Graham Fieggen, Sylvia Roozen, Godfrey P. Oakley, Gail Rosseau, Robert J. Berry
Summary: Mandatory fortification with folic acid is a safe and effective intervention to prevent spina bifida and anencephaly, but its implementation is limited globally. Urgent action is needed to pass a resolution for universal mandatory fortification to accelerate prevention efforts and achieve the Sustainable Development Goals by 2030.
LANCET GLOBAL HEALTH
(2022)
Article
Medicine, General & Internal
Lizhu Chen, Yun Xiu, Qijun Wu, Yu Wang, Yixin Zhang, Jia Xue, Qinbo Wang, Zhengwei Yuan
Summary: This study found that maternal serum LMNA may serve as a potential biomarker for prenatal diagnosis of fetal CHD, NTD, and PE.
Review
Hematology
Nicoletta Riva, Jean Calleja-Agius
Summary: Ovarian vein thrombosis is a rare type of venous thromboembolism that is commonly associated with pregnancy and oral contraceptives. Clinical features include abdominal pain, fever, and gastrointestinal symptoms, with ultrasound Doppler being the first-line imaging tool.
Letter
Anatomy & Morphology
Christian Zammit, Pierre Schembri Wismayer, Jean Calleja Agius
ANATOMICAL SCIENCE INTERNATIONAL
(2022)
Article
Engineering, Electrical & Electronic
S. Di Meo, J. Bonello, I Farhat, L. Farrugia, M. Pasian, M. T. Camilleri Podesta, S. Suleiman, J. Calleja-Agius, C. Sammut
Summary: This study aimed to analyze the correlation between tissue dielectric data variability and sample hydration by measuring samples from different sources. Results showed that sample hydration level directly influences intra- and inter-organ variability for both animal and human tissues.
JOURNAL OF ELECTROMAGNETIC WAVES AND APPLICATIONS
(2022)
Letter
Surgery
Christian Camenzuli, Pierre Schembri Wismayer, Jean Calleja-Agius
SURGICAL INNOVATION
(2022)
Article
Medicine, General & Internal
Sarah Cuschieri, Stephan Grech, Andrea Cuschieri
Summary: The study found a general increase in Covid-19 positivity trend in Europe following a week of EURO2020 matches across most countries and host cities, with a similar trend observed for the Delta variant sample positivity rate. The increased incidence was mostly among the young generation (<49 years), and a decline in positive cases was observed on a national level for most countries following the Finals match.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2022)
Review
Anatomy & Morphology
Andrea Cuschieri, Sarah Cuschieri, Christian Zammit
Summary: This systematic review found that the global prevalence of Sella turcica bridging (STB) is higher than previously thought, especially in Europe. The prevalence of STB is higher in individuals with comorbidities, and partial bridging is the most common type.
SURGICAL AND RADIOLOGIC ANATOMY
(2022)
Article
Environmental Sciences
Olga Gouni, Gabija Jarasiunaite-Fedosejeva, Burcu Komurcu Akik, Annaleena Holopainen, Jean Calleja-Agius
Summary: The purpose of this concept analysis is to explore childlessness and provide understanding to professionals involved in infertility. The analysis defines childlessness as the absence of children in an individual's life, which can be voluntary or involuntary. A deeper analysis of the concept considers cultural, psychological, biological, philosophical, theological, sociological, anthropological, and linguistic factors throughout history. The experience of childlessness has long-term impacts on both individuals and society, causing pain to those who are involuntarily childless.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2022)
Review
Biochemistry & Molecular Biology
Riccardo Di Fiore, Sherif Suleiman, Rosa Drago-Ferrante, Yashwanth Subbannayya, Francesca Pentimalli, Antonio Giordano, Jean Calleja-Agius
Summary: Cervical cancer is the fourth most common gynecological malignancy worldwide, mostly associated with high-risk human papillomavirus infection. While cervical Pap smear screening and vaccines have effectively reduced the incidence and death rate of cervical cancer, their accessibility varies across different societies. Prognosis for advanced or recurrent cervical cancer is poor, with a maximum one-year relative survival rate of 20%. Cancer stem cells may play a crucial role in the tumorigenesis, metastasis, relapse, and resistance to treatment of cervical cancer, highlighting their potential as therapeutic targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Public, Environmental & Occupational Health
Sarah Cuschieri, Andrea Cuschieri, Elysia Farrugia, Emily Diacono, Elaine Balzan, Miguel Grupetta, Alessia Vella, Catriona Cutajar, Martina Formosa, Matthias Barbara, Franziska Mintoff, Conor Shaw, Samuel Fleri-Soler, Norbert Borg, Gillian Pace, Lauren Vella, Robert Pisani, Tamara Attard-mallia, Mattea Gouder, Rosie Attard, Nicole Grixti, Mark Scicluna, Timothy Borda, Katya Bartolo, Ruben Chircop, Etienne Degabrielle-Ferrante, Mariah Mallia, Miguel Attard, Naomi Frendo, Gianluca Gatt, Greta Damato, Nicole Riolo, Lorna Muscat-Baron, Matteo Galea, Elizabeth Grech
Summary: This study examines the progression of the COVID-19 pandemic and the impact of vaccination across 35 European countries over an 18-month period. The results suggest that there are similar morbidity and mortality outcomes across neighboring countries, with a positive relationship between the percentage of fully vaccinated population and case fatality rates. Mass population vaccination appears to be effective in reducing the severity and mortality rates of COVID-19 cases. It is important for countries to implement mitigative measures, vaccination rollouts, and collaborate with neighboring countries to ensure a return to normalcy.
DISASTER MEDICINE AND PUBLIC HEALTH PREPAREDNESS
(2022)
Review
Biochemistry & Molecular Biology
Rosa Drago-Ferrante, Riccardo Di Fiore, Fathi Karouia, Yashwanth Subbannayya, Saswati Das, Begum Aydogan Mathyk, Shehbeel Arif, Ana Paula Guevara-Cerdan, Allen Seylani, Aman Singh Galsinh, Weronika Kukulska, Joseph Borg, Sherif Suleiman, David Marshall Porterfield, Andrea Camera, Lane K. Christenson, April Elizabeth Ronca, Jonathan G. Steller, Afshin Beheshti, Jean Calleja-Agius
Summary: This review focuses on the effects of microgravity and radiation on the female reproductive system, particularly gynecological cancer. By summarizing the existing research, it provides guidance for safer exploration class missions and postflight screening and management of women astronauts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Clinical Neurology
Andrea Cuschieri, Nicole Borg, Christian Zammit
Summary: Currently, there is insufficient evidence to suggest that closed-loop deep brain stimulation (CL-DBS) offers significantly better clinical outcomes compared to open-loop deep brain stimulation (OL-DBS). However, our scoping review indicates that CL-DBS can improve symptoms of specific neurological and psychiatric disorders and has the advantage of energy-saving capacity, potentially reducing the need for battery replacement surgeries. Real-time adjustment of symptoms using CL-DBS may improve overall quality of life for patients. Further studies are needed to validate these observations.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2022)
Article
Education, Scientific Disciplines
Andrea Cuschieri, Desiree Sant, Shirley Louise Vella, Ritienne Demanuele, Roderick Schembri, Sarah Cuschieri
Summary: This study investigated the perceptions of allied health professional (AHP) students towards research. The results showed that despite the importance of research for their future careers, only a small percentage of students had published research. Career progression and lack of opportunity were identified as major motivating and stumbling factors. Students studying research-focused degrees felt more equipped with research skills compared to clinically oriented degrees. Joint efforts should be made to address the factors limiting undergraduate students from conducting research, in order to promote evidence-based thinking in healthcare.
MEDICAL SCIENCE EDUCATOR
(2023)
Article
Education, Scientific Disciplines
Andrea Cuschieri, Sarah Cuschieri
Summary: The declining number of physicians engaging in research can be addressed by involving medical students in research. This study assessed the impact of engaging medical students in research and the feasibility of conducting online research. The results showed that involving medical students in research improved their attitudes towards research and enhanced their soft skills and understanding of research.
MEDICAL SCIENCE EDUCATOR
(2023)
Review
Multidisciplinary Sciences
Andea Cuschieri, Emma Camilleri, Renald Blundell
Summary: Moringa oleifera extract and its phytochemical derivatives show potential as neuroprotective agents against ischemic stroke by reducing oxidative stress and increasing antioxidant enzymes. Although more research is needed, this systematic review provides evidence for their efficacy.
Review
Clinical Neurology
Andrea Cuschieri, Mariah Borg, Eliza Levinskaia, Christian Zammit
Summary: This systematic review provides a comprehensive analysis of the efficacy of laser interstitial thermal therapy (LITT) in treating biopsy-proven radiation necrosis (RN) and characterizes the demographic characteristics and clinical outcomes of patients. The results suggest that LITT is a versatile treatment option for refractory RN, although further studies are needed to determine its efficacy against biopsy-proven RN.
JOURNAL OF CLINICAL NEUROSCIENCE
(2023)
