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Topic Review
Gene Therapy in PolyQ SCAs
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene. These neurodegenerative ataxic disorders are characterized by progressive cerebellar degeneration, which translates into progressive ataxia, the main clinical feature, often accompanied by oculomotor deficits and dysarthria. Currently, PolyQ SCAs treatment is limited only to symptomatic mitigation, and no therapy is available to stop or delay the disease progression, which culminates with death.
  • 796
  • 27 Apr 2021
Topic Review
Genetic Features of 22q11.2 Deletion Syndrome
The 22q11.2 region has a complex structure, characterized by low copy repeats (LCR22A, LCR22B, LCR22C, LCR22D) which share >96% of their sequence and are particularly prone to nonallelic homologous recombination during gametogenesis.
  • 99
  • 08 Mar 2024
Topic Review
Genetic Resistance to COVID-19 Virus Entry
Numerous efforts have been made to comprehend the pathogenic and host variables that contribute to COVID-19 susceptibility and pathogenesis. One of these endeavours is understanding the host genetic factors predisposing an individual to COVID-19. Genome-Wide Association Studies (GWAS) have demonstrated the host predisposition factors in different populations. These factors are involved in the appropriate immune response, their imbalance influences susceptibility or resistance to viral infection.
  • 456
  • 13 Jan 2023
Topic Review
Genomics of Endometriosis
Endometriosis is a gynecologic disease affecting women of reproductive age. Its precise prevalence is in fact unknown, but classically estimated at around 10%. It is characterized by two major clinical manifestations: pain and infertility.
  • 423
  • 21 Jul 2021
Topic Review
GERD after Bariatric Surgery
Bariatric surgery remains the gold standard treatment for morbidly obese patients. Roux-en-y gastric bypass and laparoscopic sleeve gastrectomy are the most frequently performed surgeries worldwide. Obesity has also been related to gastroesophageal reflux disease (GERD). The management of a preoperative diagnosis of GERD, with/without hiatal hernia before bariatric surgery, is mandatory. Endoscopy can show abnormal findings that might influence the final type of surgery.
  • 449
  • 04 Jun 2021
Topic Review
Gestalt Practice
Gestalt Practice is a contemporary form of personal exploration and integration developed by Dick Price at the Esalen Institute. The objective of the practice is to become more fully aware of the process of living within a unified field of body, mind, relationship, earth and spirit. Gestalt is a German word that denotes form, shape or configuration, and connotes wholeness. Practice is an ongoing program or process of development. Gestalt Practice is an ongoing process of integrating human awareness across a broad spectrum of consciousness. Initially, Gestalt was used as a psychological term in Gestalt psychology. Then Fritz Perls, Laura Perls and Paul Goodman applied it to psychotherapy when they developed Gestalt therapy, upon which Gestalt Practice was partially based. Alan Watts, who was a mentor of Dick Price, suggested combining practices from the cultures of East and West. The writings of Nyanaponika Thera and the nearby presence of Zen Roshi Shunryu Suzuki[notes 1] were sources of Buddhist meditation practice for Price. Gestalt Practice was the term he used to describe his combination of these Eastern and Western traditions. This term distinguished the practice Price taught from both Gestalt therapy and Buddhist practice.:172
  • 532
  • 03 Nov 2022
Topic Review
GLP-1 and DPP-4  Applied Gestational Diabetes Mellitus
Gestational diabetes mellitus (GDM) is a disorder defined as carbohydrate intolerance that manifests during the second or third trimester of pregnancy. To prevent them, it is important to keep glucose levels under control. As much as 15–30% of GDM patients will require treatment with insulin, metformin, or glyburide. With that in mind, it is crucial to keep searching for novel and improved pharmacotherapies. Nowadays, there are ongoing studies investigating the use of other groups of drugs that have proven successful in the treatment of type 2 diabetes mellitus (T2DM). Glucagon-like peptide-1 (GLP-1) receptor agonist and dipeptidyl peptidase-4 (DPP-4) inhibitor are among the drugs targeting the incretin system and are currently receiving significant attention. GLP-1 is a peptide that is produced through the proteolysis of proglucagon, a protein expressed in L cells in the intestinal mucosa, α cells of the pancreas, as well as in the nucleus of the solitary tract (NTS) in the brainstem. GLP-1 has access to a specific GLP-1 receptor (GLP-1R) that is expressed in a wide range of target tissues. It is secreted mainly after the ingestion of glucose, lipids, or mixed meals, and increases glucose-stimulated insulin secretion at physiological plasma concentrations, which meets all the criteria for an incretin hormone.
  • 113
  • 25 Sep 2023
Topic Review
GLP-1 Receptor Agonists in Polycystic Ovary Syndrome Management
Polycystic ovary syndrome (PCOS) is the most common metabolic and hormonal disorder in reproduction-aged women. Its pathogenesis involves multiple organ systems and is tightly associated with a higher predisposition and prevalence of abdominal obesity and insulin resistance. Profound weight loss effects in diabetic and non-diabetic patients gave birth to the idea that GLP-1 receptor agonists (GLP-1RAs) could be used in a subgroup of women with PCOS.
  • 439
  • 30 Aug 2022
Topic Review
Glucagon-like Peptide-1 Receptor Agonists
Type 2 diabetes mellitus (T2DM) is a heterogeneous, chronic, progressive metabolic disease accounting for 90–95% of all diabetes. Glucagon-like peptide-1 (GLP-1) receptor agonists are a new class of antihyperglycemic drugs that enhance appropriate pancreatic β-cell secretion, pancreatic α-cell (glucagon) suppression, decrease liver glucose production, increase satiety through their action on the central nervous system, slow gastric emptying time, and increase insulin action on peripheral tissue. They are effective in the management of type 2 diabetes mellitus and have a favorable effect on weight loss. 
  • 472
  • 08 Apr 2022
Topic Review
Glucocorticoid-Induced Osteoporosis (GIOP)
In a physiological state, glucocorticoids stimulate mature osteoblasts to produce Wnt proteins functioning as signaling molecules, causing a Wnt/β-catenin cascade to be activated. This signaling cascade affects mesenchymal progenitor cells, and has a positive effect on their differentiation into osteoblasts instead of chondrocytes or adipocytes. Glucocorticoids are the most widely used anti-inflammatory drug around the world. Despite their excellent effect in managing many acute inflammatory diseases and autoimmune disorders, the usage of glucocorticoids has been limited due to substantial adverse effects. One of the most well-known side effects is osteoporosis, which further induces bone fracture and other musculoskeletal problems.
  • 345
  • 18 Sep 2023
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