[Clinical and genetic analysis of tyrosine hydroxylase deficiency of six cases].

The clinical and molecular genetic data of 6 patients with genetically confirmed tyrosine hydroxylase deficiency(THD) diagnosed in Department of Neurology, Qilu Hospital of Shandong University from March 2017 to February 2022 were retrospectively collected and analyzed. The 6 patients were from 5 families. Among them, 5 patients had persistent or paroxysmal abnormal walking posture, 4 patients had dystonia of head and face, including spasm of perioral and oculopharyngeal muscles, hyperactivity, and binocular upvision, 4 patients showed obvious morning light and evening heavy phenomenon, 2 patients had postural tremor of limbs, 2 patients had psychomotor retardation from childhood, 1 patient only had limb and cervical muscle weakness, 1 patient had epileptic seizures. Of the 6 patients, only 1 was adult-onset, and the rest were child-onset. Four patients had good response to low-dose dopa preparation, 2 patients from the same family had poor response to dopamine treatment, requiring extremely low dose initiation and multi-frequency titration treatment. However, the long-term treatment effect was poor with obvious abnormalities. Gene testing of 5 families revealed 8 mutations in the TH gene, with c.698G>A (p.R233H) being the hot spot mutation site. The clinical manifestations of THD are complex. Besides paroxysmal or persistent dystonia, it can also be accompanied by eye movement crisis, muscle weakness, epilepsy, and delayed mental and motor development. Most patients respond well to low-dose dopamine preparations, but a small number of patients require titration treatment with extremely low-dose dopamine preparations, and the long-term effect is not satisfactory.

CD8/MHC-I complex is specific but not sensitive for the diagnosis of polymyositis.

This study aimed to investigate immunostaining patterns for major histocompatibility complex class I (MHC-I) in different types of myopathies and to assess the diagnostic value of CD8/MHC-I complex for definite polymyositis. The study included 20 cases of definite polymyositis, 20 cases of dermatomyositis and 10 cases of dystrophies with muscle inflammation (inflammatory muscular dystrophy). Immunohistochemical staining with MHC-I antibody demonstrated the presence of MHC-I along the sarcolemma of scattered or small groups of non-necrotic fibres in both polymyositis and inflammatory muscular dystrophy, whereas intense sarcolemmal immunostaining for MHC-I was diffusely present in almost all fibres in dermatomyositis. Double immunofluorescence labelling for CD8 and MHC-I detected the CD8/MHC-I complex in 20% of polymyositis cases with mononuclear cell infiltrates. No CD8/MHC-I complex was found in the dermatomyositis or inflammatory muscular dystrophy cases. The results suggest that MHC-I detection alone cannot be used as a reliable diagnostic test to differentiate polymyositis from dystrophies with secondary muscle inflammation. The CD8/MHC-I complex, although showing high specificity, is neither a sensitive nor an easy-to-handle diagnostic test for polymyositis.

Blood pressure control in ultra-early basal ganglia intracerebral hemorrhage.

OBJECTIVE: We performed this study to investigate the effect of blood pressure control in ultra-early basal ganglia intracerebral hemorrhage. PATIENTS AND METHODS: 120 patients with ultra-early basal ganglia intracerebral hemorrhage were randomly divided into experimental group (strengthened antihypertensive) and control (normal antihypertensive). Each group consists of 60 patients, whose contractive pressure were controlled by intravenous antihypertensive drugs among 130-140 mmHg and 160-180 mmHg respectively for 24 h, after 1 h of beginning treatment. They were all evaluated by NIH Stroke Scale (NIHSS) before and after the treatment. Cranial CT, hematoma volume, hematoma enlargement, edema volume, serum matrix metalloproteinase-9 level were performed and compared between groups. RESULTS: After 24 h, hematoma volume and hematoma enlargement in the experimental group was significantly lower than control (p < 0.05). After 14 days, NIHSS score in the experimental group was significantly lower than control (p < 0.05). Cerebral edema amount and serum MMP-9 level in the experimental group were significantly lower than control after 5 days and 14 days. CONCLUSIONS: Ultra-early basal ganglia intracerebral hemorrhage can remarkably reduce hematoma enlargement, cerebral edema, serum MMP-9 level, and improve the neurological function.