ACTA2 Alliance’s Post

The largest study to investigate the link between autoimmune conditions and premature ovarian insufficiency finds they are between two to three times more common in women who have been diagnosed with premature ovarian insufficiency (POI). To read the full article published in the Journal Human Reproduction follow this link https://lnkd.in/e8B67KMq #FertilityResearch #premarureovarianinsufficiency #fertilityawareness #humanreproduction #ESHRE European Society of Human Reproduction and Embryology (ESHRE)

https://lnkd.in/gfhu-_43 Article title: Lack of Association between the 4234G/C X-Ray Repair Cross-Complementing 2 (XRCC2) Gene Polymorphism and the Risk of Endometrial Cancer among Polish Population   Author(s): Hanna Romanowicz*; Magdalena Bryś; Ewa Forma; Beata Smolarz   Journal: Journal of Gynecological Research and Obstetrics   Journal ISSN: 2581-5288 Abstract: Objective: One of the major causes of carcinogenesis is loss of genome stability. The double-strand break DNA repair pathway, including X-ray repair cross complementing group 2 (XRCC2) gene, is implicated in maintenance integrity of genome and therefore could affect endometrial cancer (EC) risk. The purpose of this study was to evaluate the clinical significance of the XRCC2 4234G/C (rs3218384) gene single nucleotide polymorphism (SNP) in endometrial cancer patients. #EndometrialCancer #XRCC2 #Polymorphism #Obstetrics #Midwifery #MaternalMedicine #FetalMedicine #GynecologicalUrology #GynecologicalOncology #GynecologicalEndocrinology #Infertility #ReproductiveMedicine #GenitourinaryMedicine #SexualMedicine #PrenatalDiagnosis #Perinatology #Cytopathology #GeneralGynecology #CommunityGynecology #FamilyPlanning #Epidemiology #ReproductiveEthics #MedicalEducationResearch #Menopause #OperativeGynecology #GynecologicSurgery #LaparoscopicSurgery #MaternalFetalMedicine #ReproductiveEndocrinology #MenopausalGynecology #GeriatricGynecology #ReconstructiveSurgery #ObstetricalComplications #PregnancyProblems #PregnancyDiagnosis #PelvicInflammatoryDisease #ViralInfections #PregnancyTrauma #Peertechz #PeertechzPublications #TwinToTwinTransfusionSyndrome #UterineCancerTreatment #EndometriosisTreatment #LeiomyomataUteri #OvarianCancer #SexualDysfunction #STI #UrinaryIncontinence #Vaginitis #UltrasonographyAdvances #Dystocia #LaborAugmentation #FetalGrowthRestriction #FetalHeartMonitoring #FetalMacrosomia #IntrapartumManagement #AntepartumSurveillance #NormalLabor #OperativeObstetrics #ObstetricTrauma #GeneticDisorderDiagnosis #PretermLabor #TeratogenicAgents #LaborInduction #SpontaneousAbortion #PosttermPregnancy #PostpartumHemorrhage #UTIinPregnancy #UterineInfection #FetalTherapyUpdate #AntiphospholipidSyndrome #FetalGrowthRetardation #FetalHeartRateTesting #OvaryDisease #PrematureRuptureOfMembranes #VulvaPathology #ThyroidDiseaseInPregnancy #VaginaPathology #UterusPathology #OviductPathology #PlacentaPathology #AbdominalImaging #OpenAccess

Full Abstract: "The #Endocannabinoid System (#ECS) is primarily responsible for maintaining #homeostasis, a balance in internal environment (#temperature, #mood, and #immunesystem) and #energy input and output in living, biological systems. In addition to regulating physiological processes, the ECS directly influences #anxiety, feeding behaviour/ #appetite, #emotional behaviour, #depression, #nervous functions, #neurogenesis, #neuroprotection, #reward, #cognition, #learning, #memory, #pain sensation, #fertility, #pregnancy, and pre-and post-natal development. The ECS is also involved in several #pathophysiological diseases such as #cancer, #cardiovascular diseases, and #neurodegenerative diseases. In recent years, genetic and pharmacological manipulation of the ECS has gained significant interest in #medicine, #research, and #drugdiscovery and development. The distribution of the components of the ECS system throughout the body, and the #physiological/pathophysiological role of the ECS #signallingpathways in many #diseases, all offer promising opportunities for the development of novel #cannabinergic, #cannabimimetic, and #cannabinoid-based #therapeutic #drugs that genetically or pharmacologically #modulate the ECS via #inhibition of metabolic pathways and/or #agonism or #antagonism of the #receptors of the ECS. This modulation results in the differential expression/activity of the #components of the ECS that may be beneficial in the #treatment of a number of #diseases. This manuscript in-depth review will #investigate the potential of the #ECS in the treatment of various #disease s, and to put forth the suggestion that many of these secondary metabolites of #Cannabissativa L. (hereafter referred to as “C. #sativa L.” or “#medicalcannabis”), may also have potential as lead compounds in the development of #cannabinoidbased #pharmaceuticals for a variety of diseases." -The Endocannabinoid System: A Potential Target for the Treatment of Various Diseases. Our #501c3nonprofit #donates #hempproducts #cancerpatients #qualityoflife #casestudies #like #follow #share #subscribe #donate #GotCancer #Apply #ApplyOnline #hempitforward.org ❤

🔍 Case Study: Hereditary Fructose Intolerance 🔍 Hereditary fructose intolerance (HFI) is a rare genetic disorder causing liver process disruptions and elevated intrahepatic fat. Classified under ICD-10: E74.1 and ORPHA: 469, HFI symptoms include aversion to fructose, hypoglycemia, liver/kidney dysfunction, and growth delays. 📚 Case Study: A 20-month-old child with abdominal pain, bloating, and hypoglycemia was diagnosed with HFI and celiac disease. Elevated liver enzymes and hypercholesterolemia were noted. Genetic tests confirmed ALDOB gene variants and carrier status in parents. 🔍 Key Takeaway: Comprehensive clinical evaluation and genetic testing are vital in pediatric metabolic disorders. 👉 Read more here: https://lnkd.in/drE7zdjv #Genetics #Pediatrics #RareDiseases #HereditaryFructoseIntolerance #MedicalResearch #GeneticTesting

Comparing #PCR Testing #Methodologies: When it comes to infection testing, not all labs provide a complete answer. Some labs rely on PCR alone with data-driven recommendations, which are not patient specific. Some rely on PCR with isolated susceptibility, missing crucial bacterial interactions. At Clarity Lab Solutions, we take a comprehensive approach. We offer PCR for precise identification and resistance gene detection, in combination with #Culture for additional pathogen discovery, and confirmation of organism viability. Most importantly, our pooled antibiotic susceptibility considers the #biofilm, providing patient-specific treatment options to eradicate the entire #infection. Choose #clarity in #diagnostics, choose #complete #results. #UTI #Urology #STI #gynecology #womenshealth #woundcare #woundhealing #WoundClinic #DPM #Podiatry #ENT #Geriatrics #SNF #SkilledNursing #NursePractitioner #PhysicianAssistant #HBPC #InfectionControl

⚠️ #Gut #microbiota and #ketogenic #diet: how close are we to tackling #epilepsy❓ ❇️Among the non-pharmacological approaches proposed for drug-resistant epileptic patients unsuitable for surgery, the ketogenic diet (KD) has long been used with positive outcomes. ❇️KD (namely a high-fat, low-carbohydrate, and moderate-protein diet) has long been used as an effective treatment for intractable epilepsy. ❇️Accumulating evidence has highlighted the key role of the #MGB axis in epilepsy, which exploits mechanisms involving the autonomic, enteric, neuroendocrine and neuroimmune nervous systems. ❇️ #SCFAs play a fundamental role in processes closely related to epilepsy, such as microglial and nervous system maturation, BBB permeability, and modulation of stress responses through both direct and indirect pathways ❇️ #Butyrate can increase the seizure threshold and reduce seizure intensity, while protecting brain tissue and neuronal apoptosis and improving mitochondrial dysfunction ❇️Derangements of GABA and #5-#HT, related to hypoactivity, as well as glutamate, dopamine, and norepinephrine, related to hyperactivity, have been found in epileptic epidemics. ❇️5-HT is closely related to several bacterial species belonging to the genera #Enterococcus, #Escherichia, and #Streptococcus. ❇️GABA is associated with #Bifidobacterium and #Lactobacillus, while norepinephrine and dopamine are attributable to the presence of Escherichia and Bacillus. ❇️ #Desulfovibrio, which is considered a harmful bacterial genus as it produces #H2S that causes damage to the intestinal mucosal barrier, appeared reduced after KD treatment. ❇️In a study of KD administration in children with severe epilepsy, they found a significant depletion of Bifidobacterium and #Eubacterium #rectale, with an increased representation of E. coli. 🔺The depletion of bifidobacteria was confirmed in the study by Ang et al. 💬In nonepileptic overweight/obese patients, who also showed that the KD-associated GM reduced the levels of proinflammatory #Th17 cells in the gut. ❇️Regarding SCFAs, they showed that their fecal levels increased in patients with drug-resistant epilepsy treated with KD for six months and were highly correlated with specific gut bacteria. 💬Researchers showed that after only 1 month of KD, total SCFAs were reduced by 55%, with a reduction of 64% in acetate, 33% in propionate and 20% in butyrate. ❇️It has been suggested that neurotransmitters may act at the level of the GIT innate immune system, control and regulate blood flow, intestinal motility, nutrient absorption, and, not least, GM. 📌To sum up, the MGB axis and identify innovative diagnostic biomarkers and therapeutic targets for refractory epilepsy, could lead to the design of other precision modulation strategies (possibly involving prebiotics, probiotics, synbiotics, postbiotics, FMT, or ad hoc consortia) of the MGB axis to treat this complex neurological condition.

The study by Eva Untersmayr-Elsenhuber and her team from MedUni Vienna's Center for Pathophysiology, Infectiology and Immunology builds on earlier research on immune disorders and the intestinal barrier function in those with Chronic Fatigue Syndrome (CFS). As with other autoimmune diseases, like PANS/PANDAS, there are still no measurable parameters (biomarkers) that clearly indicate the disease. This study identifies various biomarkers that indicate immune system disorders or reduced intestinal barrier function. As they discuss, those suffering from immunodeficiencies are characterised by an altered innate immune function. In those with an intact immune system, the intestinal barrier function was reduced. According to the researchers, this not only provides a more detailed insight in different disease mechanisms, but also indicates that depending on the patient’s immune competence, some treatment approaches might be more suitable than others. Vcelkova T, Reiter W, Zylka M, Hollenstein DM, Schuckert S, Hartl M, Seiser C. GSE1 links the HDAC1/CoREST co-repressor complex to DNA damage. Nucleic Acids Res. 2023 Nov 27;51(21):11748-11769. doi: 10.1093/nar/gkad911. PMID: 3787841 #chronicfatigue #CFS #PANS #PANDAS #BGE #functionalmedicine #pediatrics #pediatrician #childrenshealth

Polypharmacy Patterns in Multimorbid Older People with Cardiovascular Disease: Longitudinal Study Read this study by Noemí Villén et al. here ➡️ https://brnw.ch/21wJ6hp Cardiovascular disease is associated with high mortality, especially in older people. This study aimed to characterize the evolution of combined multimorbidity and polypharmacy patterns in older people with different cardiovascular disease profiles. This longitudinal study drew data from the Information System for Research in Primary Care in people aged 65 to 99 years with profiles of cardiovascular multimorbidity. Combined patterns of multimorbidity and polypharmacy were analysed using fuzzy c-means clustering techniques and hidden Markov models. The prevalence, observed/expected ratio, and exclusivity of chronic diseases and/or groups of these with the corresponding medication were described. The study included 114,516 people, mostly men (59.6%) with a mean age of 78.8 years and a high prevalence of polypharmacy (83.5%). The following patterns were identified: Mental, behavioural, digestive and cerebrovascular; Neuropathy, autoimmune and musculoskeletal; Musculoskeletal, mental, behavioural, genitourinary, digestive and dermatological; Non-specific; Multisystemic; Respiratory, cardiovascular, behavioural and genitourinary; Diabetes and ischemic cardiopathy; and Cardiac. The prevalence of overrepresented health problems and drugs remained stable over the years, although by study end, cohort survivors had more polypharmacy and multimorbidity. Most people followed the same pattern over time; the most frequent transitions were from Non-specific to Mental, behavioural, digestive and cerebrovascular and from Musculoskeletal, mental, behavioural, genitourinary, digestive and dermatological to Non-specific. Eight combined multimorbidity and polypharmacy patterns, differentiated by sex, remained stable over follow-up. Understanding the behaviour of different diseases and drugs can help design individualised interventions in populations with clinical complexity. #MDPI #OpenAccess #ResearchArticle #Polypharmacy #Multimorbidity #CardiovascularDisease #Clustering #Geriatrics #Gerontology

🧫 𝗘𝘃𝗮𝗹𝘂𝗮𝘁𝗶𝗼𝗻 𝗼𝗳 𝗽𝗹𝗮𝘁𝗲𝗹𝗲𝘁 𝗶𝗻𝗱𝗶𝗰𝗲𝘀 𝗮𝘀 𝗲𝗮𝗿𝗹𝘆 𝗯𝗶𝗼𝗺𝗮𝗿𝗸𝗲𝗿𝘀 𝗳𝗼𝗿 𝗯𝗮𝗰𝘁𝗲𝗿𝗶𝗮𝗹 𝗶𝗻𝗳𝗲𝗰𝘁𝗶𝗼𝗻𝘀 𝗶𝗻 𝗽𝗲𝗱𝗶𝗮𝘁𝗿𝗶𝗰 𝗲𝗺𝗲𝗿𝗴𝗲𝗻𝗰𝘆 𝗱𝗲𝗽𝗮𝗿𝘁𝗺𝗲𝗻𝘁𝘀 Discriminating 𝗯𝗮𝗰𝘁𝗲𝗿𝗶𝗮𝗹 from 𝘃𝗶𝗿𝗮𝗹 etiology of infectious diseases can be challenging in #pediatricage, especially during the first year of life and even more in an emergency setting. It is particularly important distinguishing between viral and bacterial infections because this defines the entire diagnostic and therapeutic path. Most recent research has identified promising alternatives to traditional 𝗯𝗶𝗼𝗺𝗮𝗿𝗸𝗲𝗿𝘀, highlighting the potential role of 𝗽𝗹𝗮𝘁𝗲𝗹𝗲𝘁 𝗶𝗻𝗱𝗶𝗰𝗲𝘀 as biomarkers of inflammatory conditions and even of bacterial #infections, especially in the emergency setting. This is the first 𝗿𝗲𝘁𝗿𝗼𝘀𝗽𝗲𝗰𝘁𝗶𝘃𝗲 𝗼𝗯𝘀𝗲𝗿𝘃𝗮𝘁𝗶𝗼𝗻𝗮𝗹 𝘀𝘁𝘂𝗱𝘆 to investigate the efficacy of platelet indices in discriminating between the bacterial or viral etiology of an infectious disease in #infants younger than 12 months. What results come from this research? 🔗 Access the full study by Drs. 𝗙𝗮𝗯𝗿𝗶𝘇𝗶𝗼 𝗩𝗶𝗿𝗴𝗶𝗹𝗶, Raffaella Nenna, 𝗚𝗿𝗲𝘁𝗮 𝗗𝗶 𝗠𝗮𝘁𝘁𝗶𝗮, 𝗟𝘂𝗶𝗴𝗶 𝗠𝗮𝘁𝗲𝗿𝗮, 𝗟𝗮𝘂𝗿𝗮 𝗣𝗲𝘁𝗿𝗮𝗿𝗰𝗮, Enea Bonci, Fabio Midulla: https://lnkd.in/dU2AsmvC 𝗜𝘁𝗮𝗹𝗶𝗮𝗻 𝗣𝗲𝗱𝗶𝗮𝘁𝗿𝗶𝗰 𝗥𝗲𝘀𝗽𝗶𝗿𝗮𝘁𝗼𝗿𝘆 𝗦𝗼𝗰𝗶𝗲𝘁𝘆 Edra S.p.A. #infectionbiomarkers #respiratorycare #pediatric #pediatricians #emergencydepartments #medicalresearch

✨WORLD SICKLE CELL DAY✨ 👉Introduction: Sickle Cell Disease (SCD) is a genetic blood disorder where abnormal hemoglobin distorts red blood cells into a sickle shape, causing pain, organ damage, and other health complications. 👉Cause: SCD results from a mutation in the beta-globin gene, causing hemoglobin molecules to form abnormal structures under low oxygen conditions, leading to sickling of red blood cells. 👉Genetics: Inheritable in an autosomal recessive pattern, SCD requires both parents to pass on a mutated gene. Those with one copy of the gene may have sickle cell trait, often asymptomatic. 👉Diagnosis: Diagnosis involves blood tests to detect abnormal hemoglobin (HbS) and confirm sickle-shaped red blood cells. Newborn screening aids in early detection and intervention. 👉Management: Management includes pain relief, hydration, and antibiotics to prevent infections. Regular monitoring for complications such as stroke and organ damage is crucial. 👉Treatment: Treatment options include blood transfusions, hydroxyurea to boost fetal hemoglobin, and bone marrow transplants in severe cases to replace defective cells. 👉Genetic Counseling: Genetic counseling educates families on inheritance risks, prenatal testing options, and reproductive choices to manage and prevent SCD in offspring. Read More: https://lnkd.in/dTJGCcGY #sicklecelldisease #SCA #SCD #sicklecell #blooddisorder #hematologist #management #awareness #learning #patientcare #hemoglobinopathy #prenatalcare #pregnacycare #genetics #geneticcounselling #geneticcounsellor #careforrare #anemia #sicklecellanemia