Turk J Med Sci
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Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important for normal platelet morphology, and defects in these systems are associated with macrothrombocytopenia. ⋯ Further clinical and functional studies of the newly identified TUBB1 variants may offer important insights into their pathogenicity in macrothrombocytopenia.
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Observational Study
The platelet to lymphocyte ratio predicts overall survival better than the neutrophil to lymphocyte ratio in metastatic renal cell carcinoma.
The prognostic values of systemic inflammatory markers, neutrophil to lymphocyte ratio (NLR), and platelet to lymphocyte ratio (PLR) on overall survival (OS) of metastatic renal cell carcinoma patients (mRCC) treated with tyrosine kinase inhibitors (TKI) remain unclear. Thus, the present study aimed to investigate the prognostic impact of these markers on OS of mRCC patients. ⋯ The PLR is a readily and inexpensively obtained marker, which may predict OS in patients with mRCC treated with TKIs.
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Strain elastography has the disadvantage of being operator-dependent. Interobserver variability is observed during image acquisition and interpretation. This study aimed to analyze the interobserver and intermethod variability of strain elastography in image interpretation and evaluate the diagnostic performance combining elasticity score and strain ratio with ultrasonography. ⋯ In the evaluation and further assessment of breast lesions, semiquantitative strain ratio calculation may help improve diagnostic accuracy by reducing interpretational variety, when used together with B-mode ultrasonography and elasticity scoring, especially for inexperienced individuals.
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Spasticity is the most common motor disturbance in cerebral palsy (CP). Lockdown in the COVID-19 outbreak has profoundly changed daily routines, and similarly caused the suspension of spasticity treatment plans. Besides, the delay in botulinum toxin (BoNT) injection, which is important in the management of focal spasticity, led to some problems in children. ⋯ Then they were asked to the physicians experienced in BoNT injections (PMR specialist, pediatric orthopedists, and pediatric neurologists) or COVID-19 (pediatric infectious disease, adult infectious disease). In conclusion, the experts agree that conservative management approaches for spasticity may be the initial steps before BoNT injections. BoNT injections can be administered to children with CP with appropriate indications and with necessary precautions during the pandemic.
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The dopamine transporter (DAT) imaging provides an objective tool for the assessment of dopaminergic function of presynaptic terminals which is valuable for the differential diagnosis of parkinsonian disorders related to a striatal dopaminergic deficiency from movement disorders not related a striatal dopaminergic deficiency. DAT imaging with single-photon emission computed tomography (SPECT) can be used to confirm or exclude a diagnosis of dopamine deficient parkinsonism in cases where the diagnosis is unclear. It can also detect the dopaminergic dysfunction in presymptomatic subjects at risk for Parkinson’s disease (PD) since the reduced radiotracer binding to DATs in striatum is already present in the prodromal stage of PD. This review covers the rationale of using DAT SPECT imaging in the diagnosis of PD and other parkinsonian disorders, specifically focusing on the practical aspects of imaging and routine clinical indications.