Publications by authors named "S Rafee"

Article Synopsis
  • Individuals with idiopathic adult-onset isolated cervical dystonia (CD) may struggle with cognitive functions, especially in social cognition and executive functioning, affecting their mood and daily activities.
  • A study assessed 37 CD patients using the Cambridge Neuropsychological Test Automated Battery (CANTAB) to evaluate their cognitive performance and found that their scores were significantly lower than normative data, particularly in problem-solving and emotion recognition.
  • The findings indicate that impaired social cognition and executive functioning are crucial issues for these individuals, suggesting that targeted clinical interventions could greatly benefit them.
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Introduction: Cervical dystonia (CD) presents as a motor disorder but has a number of non-motor features. Studies have demonstrated diverse changes in cognition in patients with CD. The rarity of this disorder, phenotypic heterogeneity, and, in particular, a lack of consistency in cognitive testing measures limits clear definition of cognitive changes in this disorder.

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Article Synopsis
  • Cervical dystonia (CD), while a movement disorder, has been recognized to significantly affect social cognition and psychological well-being, impacting quality of life beyond motor symptoms.
  • A study compared 20 individuals with CD to 20 healthy controls, utilizing emotional recognition tasks and assessments for anxiety and depression.
  • Results showed that participants with CD struggled more with recognizing complex emotions and had higher levels of anxiety and depression, underscoring the importance of addressing both cognitive and psychological challenges in CD treatment.
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encodes the SHP2 protein tyrosine phosphatase that activates the mitogen-activated protein kinase (MAPK) pathway upstream of and MEK. /Shp2 somatic mutations occur frequently in Juvenile myelomonocytic leukaemia (JMML); however, the role of mutated in lung cancer tumourigenesis and its utility as a therapeutic target has not been fully addressed. We applied mass-spectrometry-based genotyping to DNA extracted from the tumour and matched the normal tissue of 356 NSCLC patients (98 adenocarcinomas (LUAD) and 258 squamous cell carcinomas (LUSC)).

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Adult-onset idiopathic focal dystonias (AOIFD) are the most common type of dystonia. It has varied expression including multiple motor (depending on body part affected) and non-motor symptoms (psychiatric, cognitive and sensory). The motor symptoms are usually the main reason for presentation and are most often treated with botulinum toxin.

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