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📦 FGFR Inhibitor Symptom Management Kit The FGFR2 mutation specifically involves changes in the FGFR2 gene, which can affect cell division and growth, making it a target for certain treatments. Patients with cholangiocarcinoma who have an FGFR2 mutation are eligible for a free care kit that includes items such as special ointments, peppermint tea, lip balm, and oral rinse to help soothe side effects associated with the treatments. Eligible households include: ⚫ The patient has the FGFR2 mutation. ⚫ The patient lives in the United States. To order your care kit, complete this short order form at https://lnkd.in/gEaKs8ar.

The ATP7B gene codes for the protein copper-transporting ATPase 2 which is responsible for transporting metals into and out of cells and is found mainly in hepatocyte Golgi apparatus where it transfers copper to a protein called ceruloplasmin. Mutations in the gene causes Wilson’s disease where there is accumulation of hepatocyte copper; this eventually spills into the systemic circulation affecting other organs in addition to the liver. Learn more about the testing with Medical Database. https://lnkd.in/d9nX_y4y #medicaldatabase

GLA gene encodes for alpha-galactosidase A, a lysosomal enzyme responsible for hydrolysis of glycolipids and glycoproteins. Mutation in the GLA gene results in a lysosomal storage disorder termed Fabry disease which shows progressive accumulation of globotriaosylceramide in blood vessels, kidneys, and myocardium and manifests as hypertrophic cardiomyopathy, renal insufficiency, or neurovascular damage. Learn more about the testing with Medical Database. https://lnkd.in/duXuhqSB #medicaldatabase

Factor VIII is a protein which is part of the intrinsic coagulation pathway. Mutations in the specific gene results in a decreased amount of FVIII or an abnormally functioning protein resulting in variable degrees of excessive bleeding, either spontaneously or from minor injury. Common disease manifestations include: hemarthrosis, hematoma, gastrointestinal bleeding, and genitourinary bleeding. Learn more about the testing with Medical Database. Learn more about the testing with Medical Database. https://lnkd.in/dysSvJ3q #medicaldatabase

New study findings suggest certain gene variants may impact the effectiveness & side effects of Methotrexate (MTX) in Crohn's disease patients. Variants in MTHFR & DHFR genes linked to MTX success or failure, with MTHFR rs1801131 also tied to adverse effects. #CrohnsDisease #MTX #personalizedmedicine https://lnkd.in/egPqyvmm

Protein C (PC) pathway serves as a major defense mechanism against thrombosis by the activation of PC through the thrombin–thrombomodulin complex and subsequent inactivation of the activated factor (F)V (FVa) and FVIII (FVIIIa) with the assistance of protein S, thereby contributing to hemostatic balance. This is original article, a report and analysis of 2 unrelated patients who suffered from recurrent thrombosis and carried a novel heterozygous mutation c.1153A>G, p.Met343Val (M343V), in PROC gene. https://lnkd.in/gVkcnVzh Shijie Zhou | Fang Li | Zhe Lai | Xi Wu | Junwei Yuan | Wenman Wu | Qiulan Ding | Xuefeng Wang | Jing Dai | Qin Xu | Yeling Lu

Peutz-Jeghers syndrome (PJS) involves mucocutaneous hyperpigmentation of the lips, buccal mucosa, and digits, gastrointestinal hamartomatous polyposis, and an increased risk for the development of various neoplasms particularly hamartomatous polyps in the small intestine, and extraintestinal locations. PJS is a result of STK11 gene mutations which disrupts the ability to restrain cell division causing uncontrolled cell growth. Learn more about the testing with Medical Database. https://lnkd.in/gZCYUYBm #medicaldatabase

Ahead of print Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients. https://lnkd.in/dDveR-ZE

Learn more about the tubb4a gene mutation causing h-abc, now expanded and referred to as ‘Tubb4a related Leukodystrophy’. As we discover more about the mutation we learn there are multiple different variants further challenging our quest for a cure!

This case report describes an outer retinal abnormality associated with taking a RET inhibitor during a clinical trial in a 52-year-old patient with right lung adenocarcinoma and a RET gene fusion. https://ja.ma/3VBPEJs