#raredisease

[chronicillnesshumor]

#raredisease #rarediseaseawareness #chronicillness #chronicillnesshumor #chronicillnessmeme #chronicillnessmemes #humor #autoimmune #spoonie #spooniememe #spooniehumor #fibromemes #fibromyalgia #spoonies #mecfs #longcovid #funnymemes #funnymeme

[teachingrounds]

"Phenylalanine is a primary amino acid that is abundant in dietary protein. It's main metabolic pathway yields the amino acid Tyrosine, which is involved in the production of Melanin pigments. Defects of enzymes responsible for interconversion of metabolites in the pathway are the cause of three well-studied, single-gene Inborn Errors of Metabolism: Phenylketonuria (PKU), Albinism (Melanin deficiency), and Alkaptonuria (excess HA)."

(C) 2010 P.J. Russell, iGenetics 3rd ed, (c) 2014 by Steven M. Carr.

#TeachingRounds #FOAMed #biochemistry #genetics #raredisease

[cbirt]

The POPDx framework was created to effectively identify a wide variety of phenotypes among participants in the UK Biobank study. To provide a thorough analysis, it makes use of a wide variety of patient data, including demographic details, medical histories, lifestyle factors, and genetic information. The framework has been successfully tested on the UK Biobank dataset and outperforms other comparable methods in identifying a wide range of phenotypes, both common and rare. This ground-breaking platform has the potential to increase the precision of phenotype recognition significantly and can be used with other biobank records.

In order to advance precision medicine and enhance patient care outcomes, POPDx is positioned to emerge as a significant player in the field of patient phenotyping. The results offer useful direction for scientists, medical professionals, and patients.

Continue Reading

#bioinforatics #machine learning #artificial intelligence #raredisease #uk biobank #health #science news

[era13479-blog]

#petwellness #marketing #mentalhealth #soundcloud #pennsylvania #rare disease #raredisease

[frenchygv]

Today is Rare Disease Day. Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.

Rare Disease Day is the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with rare diseases.

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

72% of the diseases are genetic and almost 1 out of 5 cancers is rare.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

Though Rare Disease Day is patient-led, everyone, including individuals, families, caregivers, healthcare professionals, researchers, clinicians, policymakers, industry representatives and the general public, can participate in raising awareness and taking action today for this vulnerable population who require immediate and urgent attention. How can you take action? You can visit: rarediseaseday.org, globalgenes.org, and/or thelamfoundation.org, to learn more and donate. You can also help by reposting and sharing this post, thank you.

Hoy es el Día de las Enfermedades Raras. El Día de las Enfermedades Raras se celebra todos los años el 28 de febrero (o el 29 en años bisiestos), el día más raro del año. El Día de las Enfermedades Raras es el movimiento coordinado a nivel mundial sobre enfermedades raras, que trabaja por la equidad en las oportunidades sociales, la atención médica y el acceso a diagnósticos y terapias para las personas que viven con enfermedades raras. Más de 6000 enfermedades raras se caracterizan por una amplia diversidad de trastornos y síntomas que varían no solo de una enfermedad a otra, sino también de un paciente a otro que padece la misma enfermedad. El 72% de las enfermedades son genéticas y casi 1 de cada 5 cánceres son raros. Los síntomas relativamente comunes pueden ocultar enfermedades raras subyacentes que conducen a un diagnóstico erróneo y retrasan el tratamiento. Incapacitante por excelencia, la calidad de vida del paciente se ve afectada por la falta o pérdida de autonomía debido a los aspectos crónicos, progresivos, degenerativos y, con frecuencia, potencialmente mortales de la enfermedad. El hecho de que a menudo no existan curas efectivas se suma al alto nivel de dolor y sufrimiento que soportan los pacientes y sus familias. Aunque el Día de las Enfermedades Raras está dirigido por pacientes, todos, incluidos individuos, familias, cuidadores, profesionales de la salud, investigadores, médicos, legisladores, representantes de la industria y el público en general, pueden participar en la creación de conciencia y tomar medidas hoy para esta población vulnerable que requiere atención inmediata. ¿Cómo puedes tomar acción? Puedes visitar: rarediseaseday.org, globalgenes.org y/o thelamfoundation.org, para obtener más información y donar. También puedes ayudar reposteando y compartiendo esta publicación, gracias.

#raredisease #rare disease day #rare disease day 2023 #dia de las enfermedades raras #LAM #lung disease #lung rare disease #rare disease awareness #show your colours #show your stripes #painting #drawing #botanical art #botanical illustration #typographic quote #digital drawing #digital painting #digital art #frenchygv #frenchygvart

[universitycancercentres]

Approximately 10-70% of kidney failure cases are attributed to overconsumption of alcohol. Stop drinking today.

#raredisease #youngcancer #kidneycancersucks #chronicillness #gastriccancer #kidneycancer #prostatecancer #allcancers #cancercare #cancerupport #kidneycancersurvivor #kidneyhealth #universitycancercenter #alcoholic #alcohol

[drugcarts]

A rare disorder making it difficult for food and liquid to pass into the stomach.

#achalasiacardia #achalasia #cardia #stomach #disorder #raredisease #food #chestpain #drugcarts #onlinepharmacy #pharmacy #medicine #healthcare #doctors

[aartichede08]

Rare Diseases Treatment Market research report provides comprehensive information on the market. It also includes in-depth information about Market #Drivers, Opportunities, Market Restraints, Market Growth #Challenges and Cumulative #Growth Analysis. Moreover, the report also provides an in-depth analysis of the Rare Diseases Treatment Market by identifying key players. The report also examines the #competitive landscape of the Rare Diseases Treatment Market industry and analyses its impact on the growth of this market over the next few years. The segmental analysis focuses on revenue and forecast for the period 2019-2029.

Request PDF Sample Copy of Report @ https://www.axiommrc.com/request-for-sample/11524-rare-diseases-treatment-market-report

#raredisease #chronic #illness #invisible #chronicpain #awareness #autoimmune #rare #disease #rarediseaseday #disability #hope #spoonielife #love #eds #health #genetic #disorder #support #covid #research #medical #medicine #doctor #healthcare #hospital #doctors #nurse #surgery #medico

[stacyspoonley]

A #dayinthelife of a #spoonie: Sometimes @stopandshop trips are the only outing we can handle; it takes a lot of #spoons out of us. But we make great #allergy friendly finds! To my fellow #zebra, make sure you wear a #mask in stores still; #covid hasn't gone anywhere. Wearing: #battlestargalactica Team #Cylon shirt with #MaraudersMap facemask . . #symptoms #dysautonomia #pots #gastroparesis #primaryimmunedeficiency #mastcellactivationsyndrome #dreads #raredisease #spoonielife #dreadlocks #systemicmastocytosis #ehlersdanlossyndrome #research #cure #chronicillness #curvygirl @rarediseasedayofficial @nord_rare @rare @rareis___ @battlestar_galactica_ @battlestar_galactica_ #invisibleillness (at Stop & Shop) https://www.instagram.com/p/CpyEjyrpUcY/?igshid=NGJjMDIxMWI=

#dayinthelife #spoonie #spoons #allergy #zebra #mask #covid #battlestargalactica #cylon #maraudersmap #symptoms #dysautonomia #pots #gastroparesis #primaryimmunedeficiency #mastcellactivationsyndrome #dreads #raredisease #spoonielife #dreadlocks #systemicmastocytosis #ehlersdanlossyndrome #research #cure #chronicillness #curvygirl #invisibleillness

[brokeandfamouseu]

gazelles // 2023

#adidas #raredisease #style savvy #end #endss #sneakers #classic #FARMINGTON2023

[chronicillnesshumor]

My disease is so rare I got to name it [Find it on Etsy http://tinyurl.com/mr2tcsjv ]

#rarediseases #raredisease #rarediseaseday #rarediseaseawareness

[teachingrounds]

Here's a rule of thumb for infant head circumference: it should be ~35 cm at birth, ~40 cm at 3 months, ~45 cm at 9 months, ~50 cm at 3 years, and ~55 cm at 9 years.

In Rett Syndrome (RTT), most growth parameters diminish, often to below the 2nd%ile: first OFC (1 mo), next weight (6 mo), then length (17 mo). Of these, microcephaly is most pathognomonic and reflects slowed brain growth. ~1/2 have preserved body size, and mean BMI is similar to unaffected children. Yet pubertal growth spurts are rare.

Dr. Dana Cummings (Children's Hospital of Pittsburgh Neurology) and https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3468773/

#TeachingRounds #FOAMed #genetics #pediatrics #development #raredisease #NDD

[myositisandme]

Happy Lunar New Year! I wasn't sure if I could do anything special for LNY today because I had the lowest energy last night, but I knew I had to do something. Miraculously, all my energy came back today so I was able to whip up so many dishes! I miss the food from restaurants but I'm so glad I was able to make something nice for my little family 🥰 #lunarnewyear #lny #food #cooking #chinesefood #chinese #chinesenewyear #littlevictories #yearoftherabbit #aip #autoimmuneprotocol #autoimmunedisease #chronicillness #invisibleillness #raredisease #antisynthetasesyndrome #myositis #polymyositis #ild #interstitiallungdisease #raynaudsphenomenon #mechanicshands #zebrastrong #spoonie https://www.instagram.com/p/Cnv-6QlOCYo/?igshid=NGJjMDIxMWI=

#lunarnewyear #lny #food #cooking #chinesefood #chinese #chinesenewyear #littlevictories #yearoftherabbit #aip #autoimmuneprotocol #autoimmunedisease #chronicillness #invisibleillness #raredisease #antisynthetasesyndrome #myositis #polymyositis #ild #interstitiallungdisease #raynaudsphenomenon #mechanicshands #zebrastrong #spoonie

[3rdcall]

We had a WONDERFUL time taking Violet on her first Disneyland trip! It was a day full of laughs, happiness, and countless memories made all the more special by our family and friends in attendance. A HUGE shoutout to the amazing castmembers of Disneyland Park who went the extra mile to accommodate for our darling Violet and made sure we were comfortable and cared for. Violet loved the Tiki Room, riding the drops on Pirates, going through the ‘secret’ passage in the Haunted Mansion, and immersing herself in the world of Galaxy’s Edge! We truly felt loved and accepted, and we can’t thank you enough! I am filled with gratitude that Violet could experience a day like this, and that even in the face of a terminal disease we can still celebrate, enjoy, and have truly beautiful days that fulfill the experience of childhood. Thank you for all your continued love and support! We really appreciate it. First round of Dole Whip’s on me! #CureViolet #CureGM1 #raredisease #Disneyland #disabilityaccess #gratitude #raredisease #disney #themepark #GM1 (at Disneyland) https://www.instagram.com/p/CkaBSPjLw36/?igshid=NGJjMDIxMWI=

#cureviolet #curegm1 #raredisease #disneyland #disabilityaccess #gratitude #disney #themepark #gm1

[cbccindia]

Supporting World Haemophilia Day: Advocacy for Improved Care and Treatment

Join us on World Haemophilia Day with CBCC Hospital in Raipur, Trichy, and Agartala. Join us in raising awareness and advocating for better treatment and care for those living with this rare bleeding disorder. Support the cause and help ensure vital resources for our community members affected by haemophilia.

#World Haemophilia Day #Haemophilia treatment #Bleeding disorders awareness #Rare disease support #Haemophilia care advocacy #haemophilia #bleedingdisorder #raredisease #healthawareness #cbcc #cbccindia

[rsoftindia]

World Hemophilia Day!

Today we're joining the global community to raise awareness about Hemophilia on #WorldHemophiliaDay. Hemophilia is a rare bleeding disorder that affects millions worldwide, but with understanding and support, those living with it can lead fulfilling lives.

#WHD2024 #HemophiliaAwareness #RareDisease #SupportHemophilia #SalezRobot #LeadManagement #WorkflowAutomation #SalesSuccess #EfficiencyBoost #AutomateYourSales