Topic Review
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.
  • 2011
  • 25 Mar 2021
Topic Review
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).
  • 957
  • 29 Mar 2022
Topic Review
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.
  • 911
  • 23 Jun 2021
Topic Review
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.
  • 887
  • 08 Jun 2022
Topic Review
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.
  • 751
  • 29 Mar 2022
Topic Review
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.
  • 733
  • 08 Jun 2022
Topic Review
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. 
  • 667
  • 11 Jun 2021
Topic Review
“Theranostics,” a new concept of medical advances featuring a fusion of therapeutic and diagnostic systems, provides promising prospects in personalized medicine, especially cancer. 
  • 568
  • 27 Apr 2021
Topic Review
G Protein-Coupled Receptors
GPCRs arguably represent the most effective current therapeutic targets for a plethora of diseases. GPCRs also possess a pivotal role in the regulation of the physiological balance between healthy and pathological conditions; thus, their importance in systems biology cannot be underestimated. The molecular diversity of GPCR signaling systems is likely to be closely associated with disease-associated changes in organismal tissue complexity and compartmentalization, thus enabling a nuanced GPCR-based capacity to interdict multiple disease pathomechanisms at a systemic level. GPCRs have been long considered as controllers of communication between tissues and cells. This communication involves the ligand-mediated control of cell surface receptors that then direct their stimuli to impact cell physiology.
  • 506
  • 28 Feb 2022
Topic Review
Chitosan-Based Nanoparticles for Drug Delivery
Nanoparticles (NPs) have an outstanding position in pharmaceutical, biological, and medical disciplines. Polymeric NPs based on chitosan (CS) can act as excellent drug carriers because of some intrinsic beneficial properties including biocompatibility, biodegradability, non-toxicity, bioactivity, easy preparation, and targeting specificity. Drug transport and release from CS-based particulate systems depend on the extent of cross-linking, morphology, size, and density of the particulate system, as well as physicochemical properties of the drug. All these aspects have to be considered when developing new CS-based NPs as potential drug delivery systems. This review is summarizing and discussing recent advances in CS-based NPs being developed and examined for drug delivery including the following sections: (i) CS and its derivatives, basic characteristics of CS NPs, (ii) preparation procedures used for CS NPs, (iii) CS-based-nanocomposites with organic polymers and inorganic material, and (iv) implementations of CS NPs and nanocomposites in drug delivery.
  • 407
  • 18 Oct 2021
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