Monica Trout Zarb’s Post

Overcoming access issues is at the heart of what we do. In the NICU, where ~35% of critically ill newborns have a genetic contributor to their illness , every moment counts when searching for a diagnosis. Pairing Whole Genome Sequencing #wgs with expert genetic counseling can result in a diagnosis within days. Join our experts Brian Kirmse, MD and Jennifer Kaplan, MS, LCGC on Feb. 27 to learn how hospitals can expand access to pediatric genetics care. Register now ⤵ www.genomemedical.com/wgs #healthsystems #pediatrics #wholegenomesequencing #nicu

If you, or anyone you know, has had a child with an undiagnosed medical condition, you know that trial and error is not an option to resolve the challenge. Waiting - weeks or months - for a *potential* diagnosis is not an option either. And yet, for many, these are the only options available today. Fortunately, there is a better, faster, more reliable way. I encourage you to take 50 minutes out of your day to join us for this webinar and learn how health systems nationwide are effectively using genetic testing and genetic counseling to speed time to an accurate diagnosis - from months to days - so that care teams can more quickly move to condition management to help improve the health of their patients. #childrenshospital #pediatrics #pediatrichealth #wholegenomesequencing #geneticcounseling #genetictesting

Measuring gene activity in blood samples could help determine if a child is at risk of sepsis or organ failure: https://lnkd.in/dXEbq-_p #Pediatrics #organfailure #sepsis #bloodtest

As parents, we'd do anything to keep our children healthy. Through genetic testing and carrier screening, you can get a glimpse into their health and be proactive in preventing serious symptoms of certain genetic conditions, such as cystic fibrosis, fragile X syndrome, and sickle cell disease. Learn more about the testing our HNL Genomics division provides by diving into our blog below. 👇 https://hnl.llc/3AVoaa2 #Pediatrics #PediatricHealthcare #GeneticTesting #CarrierScreening #LabTesting #Genomics

With increased payer coverage and a growing number of FDA-approved therapies for genetically-determined disorders, incorporating genetic/genomic testing into pediatric care is becoming increasingly imperative. Register now and learn from the successes of children's hospitals in our webinar on Feb. 27, 1pm ET. ⤵ www.genomemedical.com/wgs #wgs #pediatrics #genetics

Imagine having a newborn - perhaps a premature baby in the NICU - with a serious health condition for which the doctors cannot determine a diagnosis. Every minute counts - not just for the baby but also for the parents. Whole Genome Sequencing (#wgs) paired with expert genetic counseling can accelerate the diagnosis timeline from 5+ weeks to less than 2. Join our webinar to learn how hospitals can bolster their pediatrics and NICU services with this life-saving capability. #healthsystems #pediatrics #wholegenomesequencing #nicu

Baby Bambi, a unique first nationwide pilot, implemented across Israel, involving the Community Genetics Department of the Israeli Ministry of Health, all Israeli Medical Genetics Institutes (18) and Neonatal Intensive Care Units (25), has impressively demonstrated that rapid precision medicine based on genome sequencing can be provided for the benefit of critically ill babies, ensuring advanced and equitable care for neonates in a universal healthcare system. Through this Baby Bambi pilot, rapid trio whole-genome sequencing (rtWGS) yielded genetic diagnoses in 50-62% of critically ill newborns, that influenced clinical decision making, and ultimately saved lives. 🌐 https://lnkd.in/dG2J9SSs Tel Aviv Medical Center Prof. Ronni Gamzu Eli Sprecher Haleli S. Hagit Baris Feldman Yam Amir Adi Mory Sivan Reytan #precision_medicine #genome_sequencing #medical_genetics #critically_ill_newborns #pediatrics #medical_research

#world #thalassemia #day #2024 ( part 1) In this special day, let's revise our information about thalassemia and common challenges that most junior pediatrics residents or fresh pediatricians are facing it. First, What is #thalassemia? Thalassemia, a genetic blood disorder, is often diagnosed in children through a series of blood tests and genetic screenings. This condition affects the normal production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Types include alpha and beta thalassemia. #Symptoms and signs of thalassemia: Children with thalassemia may experience symptoms such as easy fatigability all the times, generalized weakness, pale skin, and slow growth. In a short, they experience anemia-like symptoms that could be mild to severe, depending to the type of thalassemia. #Diagnosis of #thalassemia: The diagnosis of thalassemia in children typically begins with a complete blood count (CBC) to check for low levels of hemoglobin and red blood cells. If abnormalities are found, then further testing may be needed to confirm the diagnosis of thalassemia. This includes hemoglobin electrophoresis, which identifies the specific type of thalassemia a child has. Genetic testing is also an important part of diagnosing thalassemia in children. This involves analyzing the child's DNA to look for mutations in the genes responsible for producing hemoglobin. If a child is found to have these mutations, they are likely to have thalassemia. To be continued in next post. #pediatrician #thalassemia #blood #genetic #pediatrics #Drrania #raniasalah #electrophoresis #hemoglobin #worldday

Are you confused about what tests to get, what they mean? T cell response - Is the earliest to rise and most sensitive then - Sensitivity decrease over time but in very chronic stages T cell response may be positive when B cell response is not IgM - Reacts next and usually diminishes with time - But in a subset of pateints can persist IgG - Appears last and may persist or drop off - But the more ill, the less likely to have a positive antibody response Immunoblot (for Borrelia, Bartonella, Babesia and TBRF - Uses recombinant antigens specific to organism tested - Increases sensitivity, specificity and ability to detect multiple species - Should replace western blot testing Antigen capture (urine) - Lyme dot-blot of multiple antigens (31, 34, 39, 93) - Nanotrap of single antigen (31) - Especially helpful when you can not get blood FISH (Fluorescent In-Situ Hybridization Assay) - Detects pathogen RNA – direct detection test - Able to detect even if embedded in biofilms - Available for Borrelia, Bartonella, Babesia PCR (direct detection assay available for Borrelia, Bartonella, Babesia and more) - Insensitive - Pathogen load is often too low to detect or intermittent Culture is gold standard (or cePCR) CDC criteria of two tier testing is for surveillance not diagnosis - Half the cases are missed The immunoblot has replaced the western blot and for serology, use this! For direct testing, use culture (cePCR) when not on treatment This is just a guide and only a start to a longer discussion.  Check out our membership for more information! #lyme #lymedisease #lymetesting #lymeawareness #PANS #PANDAS #BGE #ASD #functionalmedicine #childrenshealth #pediatrics #pediatrician

🔍 Exciting update! We are thrilled to present insights from our latest research: 'Predictors of improvement in disease activity in childhood and adolescent Crohn's disease - an analysis of age, localization, initial severity, and drug therapy.' 📊 Our study, leveraging data from the Saxon Pediatric IBD-Registry in Germany (2000-2014), delves into factors shaping the improvement of disease activity. Dive deeper into our findings in the preprint accessible via DOI: [link](https://lnkd.in/eQ2CzKse). Your input and discussions regarding this significant research are greatly appreciated! #Research #Pediatrics #CrohnsDisease #IBD 😊 [Read more](https://lnkd.in/e_6PSUvb)