- Jan 2025
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Disease: Myopathic Ehlers-Danlos Syndrome (mEDS)
Patient(s): 47 yo male, japanese descent
Variant: COL12A1 NM_004370.6: c.395-1G>A (Homozygous variant, at splice acceptor site in exon 6, causes in-frame skipping)(located in the genomic region encoding the first von Willebrand factor A domain)
Family: consanguineous parents with no related features of mEDS, healthy older brother
Phenotypes (Childhood): hypotonia, weak spontaneous movements, scoliosis, torticollis, soft plams, undescended testes, motor developmental delay, slender build, triangular face, short palpebral fissures, small nose, small mouth, large ears, bilateral knee dislocations, short stature.
Phenotypes (Adulthood): short stature, high palate, hypermobile small joints, deformed cervical spine, brachycephaly, bilateral long deformed 5th finger, severe scoliosis post surgical fixation, asymmetric pelvis
Classification: sequencing panel found the variant and it was confirmed through sanger sequencing.
According to ClinGenSVI recommendation: PVS1_Strong
Applicable criteria:
1) the one at a GT-AG 1,2 splice site
2) the one exerting exon skipping or use of a crypic splice site that preserved the reading frame.
3) the one at a truncated/altered region critical to protein function; was classified as PM3_Supporting (homozygous)
Variant not registered in gnomAD (PM2_Supporting)
Partial defect of first vWA in collagen XII judged as PS3
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- May 2019
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Many people think that antibiotics will help fight any kind of infection. But antibiotics are actually only effective against infections caused by bacteria. They can't fight colds because they are powerless against viruses. Studies confirm that antibiotics can't shorten the length of time someone is ill with a simple cold. And antibiotics often have side effects: About 1 out of 10 people have side effects such as diarrhea, nausea, vomiting, headaches and skin rashes. In women, antibiotics can upset the balance of things in the vagina and increase the risk of thrush.Things are different if, as a result of a cold, bacteria spread to the airways and cause an infection there. Then treatment with antibiotics may be considered.The following may be signs of a bacterial infection:Green nasal mucus (snot) or green sputum (coughed-up phlegm) lasting several daysPersistent severe sore throat and pus on tonsilsStuffy nose that won't go away, and severe headache around the foreheadFever, chest pain and trouble breathing
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Many people find it pleasant to breathe in (inhale) steam with or without adding things like chamomile or peppermint oil, because the warmth and moisture can have a short-term soothing effect on the mucous membranes lining the nose. But this kind of inhalation doesn't have a clear effect on cold symptoms.Drinking a lot of fluids is also often recommended if you have a cold. There's no scientific proof that this will help, though, so there's no need to force yourself to drink more fluids than you feel like drinking when you have a cold. Still, people often find that hot tea or warm milk have a soothing and warming effect.
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None of the currently available treatments can shorten the length of a cold.
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Painkillers like acetylsalicylic acid (ASA – the drug in medicines such as Aspirin), ibuprofen and acetaminophen (paracetamol) can relieve cold-related symptoms such as headache, earache and aching joints. They don't help relieve a cough or stuffy nose. These painkillers can also lower a fever.
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Most people tend to get enough vitamin C in their usual diet. Still, commercials claim that taking larger amounts of vitamin C in the form of supplements can help relieve cold symptoms. But studies have shown that vitamin C products have no effect on the symptoms and don’t reduce the length of the cold if you start taking them when the cold starts.
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