Longboard Pharmaceuticals’ Post

A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings. CHD3 heterozygous variants are associated with autosomal dominant Snijders Blok-Campeau syndrome (SBCS) which consists of intellectual disability (ID), macrocephaly, and dysmorphic facies. In this study they described that biallelic CHD3 variants can also cause a severe neurodevelopmental syndrome that is distinguishable from SBCS. They reported a severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings, each inherited from a mildly affected parent. https://lnkd.in/dAC45FKA

Stoke presents data from ongoing clinical studies of STK-001 for the treatment of Dravet syndrome at the 35th International Epilepsy Congress.   Learn more here: https://lnkd.in/efkMfDQ5   #IEC2023 #ILAE

In Neuronal Ceroid Lipofuscinoses, also referred to as Batten Disease, previously healthy children or adolescents progressively develop symptoms such as vision loss, dementia, seizures, and movement disorders. This irreversible disorder occurs in approximately three in 100,000 births. Learn more about the diagnosis and mechanisms of Batten Disease within the Year of the Zebra campaign. Watch our dedicated video here: https://lnkd.in/gzvXtRPy #Batten Disease #YearOfTheZebra #RareDiseaseAwareness

Hi everyone I want to share a nice case with all of you diagnosed just now. I think may be this is the second one case which i had reported. A 9 year old beautiful girl who has been referred to our unit for evaluation of short stature. During physical examination, it was observed that she had a short stature (136.8 cm, >-3SD), multiple facial moles, cubitus valgus, left toe brachydactylia, broad chest and underdeveloped breasts. Besides, she had no webbing on the neck, poorly developed secondary sexual characters and weighed 45 kg. During hormone examination, there was high level of TSH (5.74 UIu/ml), while the levels of FT3 (3.52 pg/ml) and FT4 (1.22 ng/dl) were normal. In addition, the levels of (E2) (48.57 pg/mL), Testosterone (29.95 ng/dL) and PRL (13.12 ng/mL) were high, and the level of IGF-1 (250 ng/ml) was low. LHRH stimulation testing showed abnormal gonadotropic hormones, the levels of FSH and LH were high. She was introverted with a poor academic performance. G-banding chromosome analysis was performed and revealed X chromosome. NOTE THE HIGHLIGHTED AREA #cytogenetics #molecularimaging #safetyprotocols #treatment #research #rarediseaseawarness #ethicalapproval #advancedtechniques

Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile cataract, and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve clinical outcome. #CTX #CTXAlliance #ULF #CerebrotendinousXanthomatosis #Leukodystrophy #RareDisease

Now live on Healio: "Transthyretin Amyloidosis-Polyneuropathy (ATTR-PN): Did You Know?" with Morie Gertz, MD, MACP and Sami L. Khella, MD, FPCP, FAAN In this Curbside Consult, Drs. Gertz and Khella provide an overview of ATTR-PN etiology, recommended workup of progressive neuropathy, and considerations for making a differential diagnosis. Find it here: https://lnkd.in/etyfqFCW

This Quick Concepts video for trainees & students discusses the pathophysiology, clinical assessment, and management of Meconium Aspiration Syndrome (MAS), which causes respiratory distress in newborns. https://lnkd.in/eMHRtbuf

Why is it so important to differentiate between #YOPD and PD? Because there are significant differences in the social and medical experiences of someone diagnosed with #YOPD compared to PD. When you experience the challenges of PD at a younger age, you may be at the beginning of your career, you may have less time to engage in your own care, and you may have young children to think about. Doctors also approach your treatment options differently — when you're diagnosed younger, there's a greater likelihood the disease is genetic. Younger brains also have more neuroplasticity, which means they have the potential to respond to the disease and treatment differently. If you've been diagnosed with #YOPD (before age 50), join your tribe at YOPN: https://lnkd.in/ejuapkkw

YPrime we are keeping our focus on the problems of our customers, ensuring we address the demands of #clinicaltrials with software enabled solutions that enable sites to focus on patient and patients to focus on their lives

Interesting research on menthol effects on AD and PD mitigation!