The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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Occult spinal CSF leak: to patch or not to patch-a case-based update. [PDF]
Childs Nerv SystWang J +4 more
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Effects of Dry Needling on Active Myofascial Trigger Points and Pain Intensity in Tension-Type Headache: A Randomized Controlled Study [PDF]
Sofía Monti-Ballano +7 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
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Before taurine is recommended for stroke-like epsiodes in m.3243A>G carriers, its efficacy must be demonstrated by appropriate studies. [PDF]
CEN Case RepFinsterer J.
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Pharmacotherapy of the most frequent headaches in adults [PDF]
, 2018 Jasna Zidverc‐Trajkovic
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Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review
Australian Journal of Social Issues, EarlyView.ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett +3 more
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Headache prevalence and impact among school-aged children in a Japanese town: the AMI-GRAINES study. [PDF]
Sci RepIshiyama S +4 more
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CASE OF RECURRENT HEADACHE. EACH ATTACK BEING RELIEVED BY THE DISCHARGE THROUGH RIGHT NOSTRIL OF A FLUID FROM THE CRANIAL CAVITY. [PDF]
, 1898 W. Scheppegrell
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