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ObjectivesTo evaluate the diagnostic accuracy of the quantitative flow ratio (QFR) for hemodynamic exploration of intracranial atherosclerotic stenosis, using the invasive cerebrovascular pressure ratio (CVPR) and resting full-cycle ratio (RFR) as reference standards.Materials and methodsPatients with symptomatic unifocal intracranial atherosclerotic stenosis were included. The CVPR was defined as the ratio of the proximal and distal pressures. All patients underwent angioplasty under general anesthesia. The QFR was calculated based on digital subtraction angiography. Using the CVPR as a reference, we compared its correlation with the QFR across different degrees and locations of stenosis.ResultsThe CVPR and QFR were measured in 34 vessels of 32 patients. The QFR demonstrated a high correlation and excellent agreement(r = 0.8227, p 80%, the QFR showed a high correlation (r = 0.8812, p

Abstract Background Orthostatic tremor (OT) is a type of postural tremor of the lower extremities that has not been described in either phenylketonuria (PKU) or hyperphenylalaninemia (HPA). Because little is known about the clinical features and therapeutic responses of OT in mild HPA, we describe a mild HPA patient who presented with OT as an initial symptom. Case presentation A 22-year-old male was admitted for bilateral leg tremor while standing, with symptom onset eight months prior. One month before admission, the tremor disappeared in the left leg but persisted in the right leg. Electromyography recorded from the right gastrocnemius revealed a 6–8 Hz tremor, which appeared when the patient was standing and disappeared when he was resting or walking. Blood screening showed a phenylalanine/tyrosine ratio of 2.06 and a phenylalanine level of 140 μmol/L. Urine metabolic screening was negative. Whole-exome sequencing confirmed the presence of a compound heterozygous mutation, c.158G > A and c.728G > A, in phenylalanine hydroxylase (PAH) gene. After three months of levodopa/benserazide tablets (250 mg, tid) and a low-phenylalanine diet treatment, the tremor disappeared. Conclusions Young-onset mild HPA is a relatively rare autosomal recessive metabolic disease, and slow OT is a rare clinical feature. Metabolic screening and genetic testing are the keys to early diagnosis and treatment. For adolescents and young adults, appropriate medication and long-term dietary therapy remain important treatments. This case expanded the disease spectrum of slow OT.