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The importance of nutrition in human health is becoming increasingly clear. Despite the growing number of publications in this field, the quality of evidence supporting most nutritional recommendations is classified as "low". To improve the quality of evidence to support nutritional recommendations, the quality of research in this field must be improved. Randomized clinical trials (RCT) are a design that can help to provide high-quality evidence; however, conducting a RCT based on a nutritional intervention can be difficult due to the heterogeneous nature of the intervention and the number of variables that must be considered. Following a review of methodological and ethical standards, as well as four extensions of the CONSORT (Consolidated Standards of Reporting Trials) guidelines applicable to nutritional interventions, a series of definitions, examples, diagrams, and algorithms of key aspects that should be considered when conducting a RCT based on a nutritional intervention were identified.
17 Jun 2022
Burnside-Butler Syndrome Genotype-Phenotype Associations
The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing. Clinical findings in Burnside-Butler syndrome include developmental and motor delays, congenital abnormalities, learning and behavioral problems, and abnormal brain findings. To better define symptom presentation, we performed comprehensive cognitive and behavioral testing, collected medical and family histories, and conducted clinical genetic evaluations. The 15q11.2 BP1-BP2 region includes the TUBGCP5, CYFIP1, NIPA1, and NIPA2 genes. To determine if additional genomic variation outside of the 15q11.2 region influences expression of symptoms in Burnside-Butler syndrome, whole-exome sequencing was performed on the parents and affected children for the first time in five families with at least one parent and child with the 15q1l.2 BP1-BP2 deletion. In total, there were 453 genes with possibly damaging variants identified across all of the affected children. Of these, 99 genes had exclusively de novo variants and 107 had variants inherited exclusively from the parent without the deletion. There were three genes (APBB1, GOLGA2, and MEOX1) with de novo variants that encode proteins evidenced to interact with CYFIP1. In addition, one other gene of interest (FAT3) had variants inherited from the parent without the deletion and encoded a protein interacting with CYFIP1. The affected individuals commonly displayed a neurodevelopmental phenotype including ASD, speech delay, abnormal reflexes, and coordination issues along with craniofacial findings and orthopedic-related connective tissue problems. Of the 453 genes with variants, 35 were associated with ASD. On average, each affected child had variants in 6 distinct ASD-associated genes (x¯ = 6.33, sd = 3.01). In addition, 32 genes with variants were included on clinical testing panels from Clinical Laboratory Improvement Amendments (CLIA) approved and accredited commercial laboratories reflecting other observed phenotypes. Notably, the dataset analyzed in this study was small and reported results will require validation in larger samples as well as functional follow-up. Regardless, we anticipate that results from our study will inform future research into the genetic factors influencing diverse symptoms in patients with Burnside-Butler syndrome, an emerging disorder with a neurodevelopmental behavioral phenotype.
25 Mar 2021
An Insight into Psychedelic Drugs in Schizophrenia
Schizophrenia remains a serious chronic mental illness since its revelation more than a century ago by Dr. Emile Kraepelin. Despite the low prevalence, nearly 24 million people suffer from this disorder, which constitutes 1 in 300 people (0.32%) of the world’s population and this rate is 1 in 222 people (0.45%) among adults. The symptoms of schizophrenia more often appear in the second or third decade of life, and disease occurrence is tied to a combination of factors such as genetic, socio-demographic, and environmental factor. Clinical schizophrenia is presented in two unique and distinct sets of symptomatology, which include ‘positive’ symptoms and ‘negative’ symptoms, and is also accompanied by significant impairment of cognitive functioning in one or more major areas. This may include an inability to execute work, interpersonal relations, or self-care, and there is also a failure to achieve the expected level of interpersonal, academic, or occupational functioning. According to the current Diagnostic and Statistical Manual for mental disorders-V (DSM-V), the positive symptoms of schizophrenia are delusions, hallucinations, disorganized speech, and behaviour; and the negative symptoms are diminished emotional expression or avolitio. These symptoms have been found to be chronically present once the disease starts, but generally the illness is marked as alternate signs of remission and exacerbation or partial remission or exacerbation. Some psychotic symptoms may be treated without the need for medication with proper human care, social support and care including electroconvulsive therapy.
08 Jun 2022
Apoptosis is a multistep process that involves two major pathways to trigger a cascade of events leading to the fragmentation of chromatin, nuclear membrane, and cell shrinkage. However, when this physiological process tended to be dysregulated, many pathological transformations happen to develop cancer.
23 Jun 2021
Bladder Cancer Biomarkers
The high occurrence of bladder cancer and its tendency to recur combined with lifelong surveillance make the treatment of superficial bladder cancer one of the most expensive and time-consuming. Moreover, carcinoma in situ often leads to muscle invasion with an unfavourable prognosis. Currently, invasive methods including cystoscopy and cytology remain a gold standard. The aim is to find biomarkers with the best specificity and sensitivity, allowing the treatment plan to optimise and have potential applications in clinical practice. Such non-invasive methods can be measure in human body fluids, for example, urine or serum: Cytokeratin fragments (CYFRA 21.1), Excision Repair Cross-Complementation 1 (ERCC1), Tumour Protein p53 (Tp53), Fibroblast Growth Factor Receptor 3 (FGFR3), Tumor-Associated Trypsin Inhibitor (TATI).
29 Mar 2022
Digital Anthropometry for Body Circumference Measurements
Anthropometry is the study of the measurements and proportions of the human body. Weight, stature (standing height), length (e.g., limb lengths), skinfold thickness, breadth (e.g., shoulder, wrist, etc.), and circumference are examples of anthropometric measures widely adopted in daily medical practice for monitoring growth and aging as well as for the clinical management of patients.
08 Jun 2022
History and Development of Nanomaterial Research
Scientists think that nanoparticles and nanostructured materials originated during the Big Bang process from meteorites leading to the formation of the universe and Earth. Since 1990, the term nanotechnology became very popular due to advances in imaging technologies that paved the way to specific industrial applications.
09 Feb 2022
In contrast to external high energy photon or proton therapy, targeted radionuclide therapy (TRNT) is a systemic cancer treatment allowing targeted irradiation of a primary tumor and all its metastases, resulting in less collateral damage to normal tissues. The α-emitting radionuclide bismuth-213 (213Bi) has interesting properties and can be considered as a magic bullet for TRNT.
11 Jun 2021
Prostate Cancer Liquid Biopsy Biomarkers
Prostate cancer biomarkers can be measured in urine, blood or tissue. A variety of tests that analyse patients' biomarkers have been developed to improve diagnosis, prognosis and to help stratify individual's risk of prostate cancers. Liquid biopsy biomarkers are easy-to-use and non-invasive. They guide the decision-making process, determine whether the patient requires treatment or can be monitored under active surveillance, and help choose the best treatment option.
29 Mar 2022
“Theranostics,” a new concept of medical advances featuring a fusion of therapeutic and diagnostic systems, provides promising prospects in personalized medicine, especially cancer.
27 Apr 2021
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