OBJECTIVES: For Parkinsonian patients who had not reacted favorably on drug therapy are good candidate for ventroposterolateral pallidotomy, although not curative. We studied these patients after unilateral pallidotomy, to confirm the effectiveness and safety of this procedure. METHODS: We evaluated the 17 patients with idiopathic Parkinson's diesease who had undergone unilateral posteroventral pallidotomy. All patients responded to levodopa initially. Mean age was 55 years(38-75years), and mean duration of disease was 9.8 years(3-20years). Pre-and postoperative evaluation at 3 month intervals included Unified Parkinson's Disease Rating scale(UPDRS) scoring, Hoehn and Yahr(H and Y) staging, and neuropsychological examinations. RESULTS: Pallidotomy significantly improved parkinsonian symptom(tremor, rigidity, bradykinesia, dyskinesia, sensory symptom). Nine of 10 patients who showed dyskinesia preoperatively significant improvement. The mean dose of levodopa in 9 patients was lowered. The mean H and Y score and UPDRS score were improved in on and/or off time in 15 patients. Among patients who were not improved, one patient worsened, and the others showed no change. The mean overall UPDRS off score changed from 76 preoperatively to 44(33%) at 6 months and from 70 to 52(25%) at 1 year. Transient surgical morbidity was showen in four patients and included dysarthria, hypotonia and confusion. CONCLUSION: We conclude that pallidotomy is safe and effective in patients who have levodopa-reponsive parkinsonism with severe symptom fluctuation. Unilateral pallidotomy also considered helpful to ipsilateral symptom. Unilateral pallidotomy can improve all of parkinsonian's symptom and allow to reduce the levodopa medication. Most of patients show satisfactory results.
Drug Therapy ; Dysarthria ; Dyskinesias ; Humans ; Hypokinesia ; Levodopa ; Muscle Hypotonia ; Pallidotomy* ; Parkinson Disease ; Parkinsonian Disorders

Objective: To explore the clinical and genetic characteristics of children with dopa-responsive dystonia (DRD) caused by tyrosine hydroxylase (TH) gene variations. Methods: Clinical data of 9 children with DRD caused by TH gene variations diagnosed in the Department of Children Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January 2017 to August 2022 were retrospectively collected and analyzed, including the general conditions, clinical manifestations, laboratory tests, gene variations and follow-up data. Results: Of the 9 children with DRD caused by TH gene variations, 3 were males and 6 were females. The age at diagnosis was 12.0 (8.0, 15.0) months. The initial symptoms of the 8 severe patients were motor delay or degression. Clinical symptoms of the severe patients included motor delay (8 cases), truncal hypotonia (8 cases), limb muscle hypotonia (7 cases), hypokinesia (6 cases), decreased facial expression (4 cases), tremor (3 cases), limb dystonia (3 cases), diurnal fluctuation (2 cases), ptosis (2 cases), limb muscle hypertonia (1 case) and drooling (1 case). The initial symptom of the very severe patient was motor delay. Clinical symptoms of the very severe patient included motor delay, truncal hypotonia, oculogyric crises, status dystonicus, hypokinesia, decreased facial expression, and decreased sleep. Eleven TH gene variants were found, including 5 missense variants, 3 splice site variants, 2 nonsense variants, and 1 insertion variant, as well as 2 novel variants (c.941C>A (p.T314K), c.316_317insCGT (p.F106delinsSF)). Nine patients were followed up for 40 (29, 43) months, and no one was lost to follow-up. Seven of the 8 severe patients were treated by levodopa and benserazide hydrochloride tablets and 1 severe patient was treated by levodopa tablets. All the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets. Although the weight of the patients increased and the drug dosage was not increased, the curative effect remained stable and there was no obvious adverse reaction. One severe patient developed dyskinesia in the early stage of treatment with levodopa and benserazide hydrochloride tablets and it disappeared after oral administration of benzhexol hydrochloride tablets. Until the last follow-up, motor development of 7 severe patients returned to normal and 1 severe patient still had motor delay due to receiving levodopa and benserazide hydrochloride tablets for only 2 months. The very severe patient was extremely sensitive to levodopa and benserazide hydrochloride tablets and no improvement was observed in this patient. Conclusions: Most of the DRD caused by TH gene variations are severe form. The clinical manifestations are varied and easily misdiagnosed. Patients of the severe patients responded well to levodopa and benserazide hydrochloride tablets or levodopa tablets, and it takes a long time before full effects of treatment become established. Long-term effect is stable without increasing the drug dosage, and no obvious side effect is observed.
Female ; Humans ; Infant ; Male ; Benserazide/therapeutic use* ; Dystonia/genetics* ; Hypokinesia/drug therapy* ; Levodopa/pharmacology* ; Muscle Hypotonia ; Retrospective Studies ; Tyrosine 3-Monooxygenase/genetics*

OBJECTIVETo analyze the clinical characteristics of the patient with tyrosine hydroxylase deficiency, and investigate it's molecular mechanism.

METHODThe clinical characteristics of a patient with tyrosine hydroxylase deficiency were summarized and analyzed, his and his family's peripheral blood specimens were collected after informed consent was signed. All exons and the intron-exon boundaries of guanosine triphosphate hydroxylase I gene, tyrosine hydroxylase gene and sepiapterin reductase gene were examined by DNA-PCR, bi-directional sequencing.

RESULTThe patient was a 3-year-old boy, presented with unexplained dystonia for 3 years, without significant impairment of intelligence. Physical examination showed limb muscle strength grade V, rigidity of extremities, hypertonicity, brisk deep tendon reflexes in limbs, without obvious abnormalities in auxiliary examination, such as brain MRI, hepatic biochemical panel, creatine kinase, and ceruloplasmin. He dramatically responded to small doses of levodopa in the follow-up for half a year. A homozygous missense change in exon 5 of TH gene, c.605G > A (p.R202H), which was a known pathogenic mutation, was found in the patient. His parents were heterozygous for the R202H mutation.

CONCLUSIONThe age of onset in tyrosine hydroxylase deficiency patients is usually within the first year of life. Unexplained dystonia and hypokinesia were the main clinical features of tyrosine hydroxylase deficiency. The dopa-responsive effects for some patients are so obvious that we should strengthen awareness of the disease. TH gene c.605G > A (p.R202H) may be a common type of causative mutations for the mild form at home and abroad.

Brain ; metabolism ; pathology ; Catecholamines ; biosynthesis ; Child, Preschool ; DNA ; genetics ; DNA Mutational Analysis ; Dopamine Agents ; administration & dosage ; therapeutic use ; Dystonic Disorders ; drug therapy ; genetics ; metabolism ; Homozygote ; Humans ; Hypokinesia ; drug therapy ; genetics ; metabolism ; Levodopa ; administration & dosage ; therapeutic use ; Male ; Muscle Rigidity ; drug therapy ; genetics ; metabolism ; Mutation, Missense ; Polymerase Chain Reaction ; Tyrosine 3-Monooxygenase ; deficiency ; genetics ; metabolism

Anthracyclines have been widely used in cancer therapy because of their efficacy in the treatment of various solid tumors and hem -atologic malignancy. Cumulative dose-related cardiotoxicity was a well-known toxicity of anthracyclines. Particularly, at total doses of more than 550 mg/m2, therapy with anthracyclines could produce irreversible cardiac injury. Anthracycline-induced cardiac toxicity was usually manifested by congestive heart failure or arrhythmia. In co- ntrast, acute myocardial infarction is a rare event of anthracycline-induced heart diseases. A 31-year-old man with non-Hodgkin lymphoma(NHL) and single cardiac risk factor, including smoking, was presented with chest pain after receiving 2nd CEOP-BLAM chemo-therapy. An electrocardiogram revealed ST segment elevation in inferior leads consistent with acute myocardial infarction. An echocardiogram revealed an ejection fraction of 60% and severe hypokinesia in inferior and anteroseptal wall. Three days later, coronary angiography revealed 50% of luminal stenosis of right coronary artery(RCA) and near total occlusion with large thrombi in m-RCA. After balloon angioplasty and stent insertion, the patient was transferred to coronary care unit and continuous intravenous heparin infusion was started. On the 10th days, the patient was discharged in good condition. Six months later, follow-up coronary angiography showed no significant lesion in right coronary artery. In a young man with NHL, we report an acute myocardial infarction after 2nd course of CEOP-BLAM chemotherapy with a review of relevant literatures.
Adult ; Angioplasty, Balloon ; Anthracyclines ; Arrhythmias, Cardiac ; Chest Pain ; Constriction, Pathologic ; Coronary Angiography ; Coronary Care Units ; Coronary Vessels ; Doxorubicin* ; Drug Therapy* ; Electrocardiography ; Follow-Up Studies ; Heart Diseases ; Heart Failure ; Heparin ; Humans ; Hypokinesia ; Lymphoma, Non-Hodgkin* ; Myocardial Infarction* ; Phenobarbital ; Risk Factors ; Smoke ; Smoking ; Stents

Anthracyclines have been widely used in cancer therapy because of their efficacy in the treatment of various solid tumors and hem -atologic malignancy. Cumulative dose-related cardiotoxicity was a well-known toxicity of anthracyclines. Particularly, at total doses of more than 550 mg/m2, therapy with anthracyclines could produce irreversible cardiac injury. Anthracycline-induced cardiac toxicity was usually manifested by congestive heart failure or arrhythmia. In co- ntrast, acute myocardial infarction is a rare event of anthracycline-induced heart diseases. A 31-year-old man with non-Hodgkin lymphoma(NHL) and single cardiac risk factor, including smoking, was presented with chest pain after receiving 2nd CEOP-BLAM chemo-therapy. An electrocardiogram revealed ST segment elevation in inferior leads consistent with acute myocardial infarction. An echocardiogram revealed an ejection fraction of 60% and severe hypokinesia in inferior and anteroseptal wall. Three days later, coronary angiography revealed 50% of luminal stenosis of right coronary artery(RCA) and near total occlusion with large thrombi in m-RCA. After balloon angioplasty and stent insertion, the patient was transferred to coronary care unit and continuous intravenous heparin infusion was started. On the 10th days, the patient was discharged in good condition. Six months later, follow-up coronary angiography showed no significant lesion in right coronary artery. In a young man with NHL, we report an acute myocardial infarction after 2nd course of CEOP-BLAM chemotherapy with a review of relevant literatures.
Adult ; Angioplasty, Balloon ; Anthracyclines ; Arrhythmias, Cardiac ; Chest Pain ; Constriction, Pathologic ; Coronary Angiography ; Coronary Care Units ; Coronary Vessels ; Doxorubicin* ; Drug Therapy* ; Electrocardiography ; Follow-Up Studies ; Heart Diseases ; Heart Failure ; Heparin ; Humans ; Hypokinesia ; Lymphoma, Non-Hodgkin* ; Myocardial Infarction* ; Phenobarbital ; Risk Factors ; Smoke ; Smoking ; Stents