Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Abdominal typhus is all the rearer disease among acute infectious diseases in Vojvodina. In the last ten years (1981-1990) 16 patients with abdominal typhus were treated at the Department of Infectious Diseases in Novi Sad, mostly young individuals from 6 to 30 years of age (13 patients). Positive epidemiologic features were found in 13 patients. In 80% of the cases the source of infection was outside Vojvodina. They usually were admitted at the Department on the first and second week of the disease (11 patients), and 3 patients were admitted on the third week. None of the patients was suspected of having abdominal typhus at the time of admittance. Delayed hospitalization and unrecognized abdominal typhus were most likely due to the atypical onset and course of the disease. Atypical features in the clinical picture occurred in all the patients with a sudden onset of the disease. The abrupt temperature elevation in 50% of the patients was followed by shivering, fever and shaking. Hepatosplenomegaly was found in 12 patients, abdominal meteorism in 10, typical typhus tongue in none. Typhus state was not found in any of the patients. Normal leucocyte count was found in 7 patients, positive Widal's agglutination reaction in 13, coproculture in 8 and hemoculture in 15 patients. The atypical clinical picture was the result of early administration of broad-spectrum antibiotics before the established etiology of the febrile state.
 ...
PMID:[Abdominal typhus today]. 134 44

We describe 3-year clinical course of a 54-year-old Japanese man who presented with action myoclonus, parkinsonism and epilepsy. There was no family history or consanguinity. The patient was well until the age of 51 years (in 1986), when he noted slow movements, memory disturbance and left hand tremor. He was treated with anti-Parkinson drugs without any improvements. Soon thereafter, he developed a gait disturbance and generalized tonic clonic seizures. He was admitted to our service at the age of 53 years. General physical examination revealed no hepatosplenomegaly. Neurological examination showed mild dementia. Neither retinal pigmentation nor cherry red spot was noted. He was unable to walk due to marked frozen gait. His upward gaze was limited and saccadic eye movement was slow. He had action myoclonus in both upper extremities and resting tremor on the left side. He showed mild left hemiparesis. Deep tendon reflex was hyperactive in both side with extensor plantar responses. MRI demonstrated cortical atrophy, especially marked at the bilateral temporal lobes with a right side predominance. Leukocyte lysosomal enzyme activities of beta-hexosaminidase, beta-galactosidase and sialidase were within normal limits. The patient died of pneumonia on April 25, 1989. At the time of a neurological CPC, neurologists reached the clinical diagnosis of adult-type neuronal ceroid-lipofuscinosis. Postmortem examination revealed bilateral bronchopneumonia. The brain weighed 1,219 g and showed atrophy of the temporal lobes. Histological examination showed neuronal cells with swollen cytoplasm and lipofuscin-like granules throughout the CNS, including the cerebral cortex, thalamus, substantia nigra, motor nuclei of the brain stem, dentate nuclei, inferior olivary nuclei. Clarke's nuclei and anterior horn cells. Marked neuronal loss was noted in the right temporal lobe and substantia nigra. Electron micrographs of the frontal cortex revealed "fingerprint profiles" in the cytoplasm of neuronal and glial cells. Pathological findings were consistent with the diagnosis of adult-type neuronal ceroid-lipofuscinosis (Kufs' disease).
 ...
PMID:[A 54-year-old man with action myoclonus, parkinsonism and epilepsy]. 1058 20

Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the non-neuronopathic form, is rather common and panethnic. Patients may present with hepatosplenomegaly, anaemia, thrombocytopenia and skeletal or lung involvement. Enzyme replacement therapy ameliorates disease symptoms and signs; however, it involves lifelong intravenous therapy, is costly and is incapable of crossing the blood-brain barrier. Substrate reduction with N-butyldeoxynojirimycin (OGT 918) is a harbinger of oral iminosugars for glycolipid storage disorders. Long-term data in the seminal trial (100 mg three times per day), demonstrate safety and efficacy in adult type I patients naive to enzyme therapy, and suggest its application in patients unwilling or unable to receive enzyme replacement and tolerating side effects, including diarrhoea, weight loss, tremor and peripheral neuropathy (mostly reversible with dose reduction or withdrawal). Dose dependency was demonstrated with 50 mg three times per day. In patients stabilized on enzyme therapy switched from or in combination with enzyme, no deterioration in disease parameters was seen but side effects were as above. Although efficacy is less dramatic than enzyme treatment, it may be that plateaux are achieved asymptotically so therapeutic outcomes with OGT 918 may ultimately be comparable. Yet, given the above side effects and the lack of long-term experience, patients with very mild manifestations would probably not be appropriate candidates.
 ...
PMID:Gaucher disease and the clinical experience with substrate reduction therapy. 1280 30

Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects.
 ...
PMID:Rare association of central pontine myelinolysis with infantile tremor syndrome. 2241 74

We report a case of dermatomyositis (DM) and hemophagocytic lymphohistiocytosis (HLH) complicated by central nervous system (CNS) lesions and review eight literature cases of DM and HLH. A 17-year-old woman, admitted to our hospital because of severe muscle weakness and high fever, was diagnosed with DM based on elevated serum levels of muscle enzymes and a typical skin rash. Pancytopenia, high serum ferritin and soluble interleukin (IL)-2 receptor, and hepatosplenomegaly were also noted. Bone-marrow examination was negative for hemophagocytosis. Steroid therapy combined with immunoglobulin i.v. was ineffective against the DM, pancytopenia, hepatic dysfunction, and hyperferritinemia. On the 27th hospital day, seizures and acute respiratory failure occurred. In the course of improving muscle enzyme levels after starting adjunctive treatment with cyclosporine, the patient suffered disturbed consciousness, dyskinesia, and tremor. Brain magnetic resonance imaging (MRI) revealed T2 hyperintense lesions in the pons. Additional cyclophosphamide pulse therapy successfully decreased serum ferritin. Unfortunately, the diffuse alveolar damage (DAD) confirmed by biopsy progressed and the patient died. Autopsy findings revealed DAD throughout both lungs, HLH liver lesions, and a hemorrhagic necrotic lesion of the pons in the brain. Even when pathological examination yields no findings of hemophagocytosis, it is important to comprehensively and rapidly diagnose HLH based on the clinical picture. Because DM complicated by HLH may be associated with abnormal production of cytokines and systemic autoimmune responses, it may be necessary to immediately administer additional immunosuppressive therapy. We describe and discuss the extraordinary, severe form of DM in our patient, along with cases in the literature.
 ...
PMID:Hemophagocytic lymphohistiocytosis complicated by central nervous system lesions in a patient with dermatomyositis: a case presentation and literature review. 2257 92

Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system. He had major cognitive impairment with impaired frontal and temporal lobar functions. Bone marrow evaluation revealed Gaucher cells, confirming the diagnosis.
 ...
PMID:Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology. 2923 63