Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01185 (vasopressin)
 23,126 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.
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PMID:Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2. 1051 81

Paraneoplastic neurological syndromes (PNS) are remote effects of cancer, which are not caused by invasion of the tumour or its metastasis, but presumably immunologic mediated. They developed in less than 1% of patients with systemic cancers, most Limbic encephalitis (LE) is the most common clinical paraneoplastic syndrome attainting the CNS (Central Nervous System), and it is characterized by involvement of hippocampus and amygdala; LE is also the only one with clearly defined imaging features. We report a 64 year old man, former smoker, which presented multiple paraneoplastic syndromes, namely LE, opsoclonus-myoclonus, subacute cerebellar degeneration, brainstem encephalitis, sensory-motor neuropathy and inappropriate antidiuretic hormone secretion syndrome (SIADH); these syndromes were identifiable in the clinical and imaging examination, confirmed by the neuro-pathological study. Magnetic Resonance Imaging disclosed on T2 weighted images bilateral hyperintensity within medial temporal lobes, hypothalamus, thalamus, brain stem, upper and medium cerebellar peduncles and upper cervical spinal cord. The underlying tumour was not found in imaging studies or in the autopsy examination. A mediastinal adenopathy depicted a metastasis from low differentiated neoplasm cells, with some signs of neuroendocrine differentiation. With this case we provide a comprehensive illustration of the PNS, from a clinical, imaging and pathological point of view. This report also emphasises the importance of a diagnosis based on early clinical and imaging findings, given that, in most cases the cancer is not apparent.
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PMID:[Multiple paraneoplastic syndromes occurring in the same patient: clinical, imaging and neuro-pathological documentation]. 1758 9

Caffeine is a natural alkaloid methylxanthine that is found in various plants such as coffee or tea. Symptoms of a severe overdose may present with hypokalemia, hyponatremia, ventricular arrhythmias, hypertension followed by hypotension, respiratory failure, seizures, rhabdomyolysis, ventricular fibrillation and finally circulatory collapse. A 21-year-old woman called for the ambulance herself soon after the ingestion of about 10,000 mg of caffeine. At the arrival of the ambulance, the patient went into cardiac arrest almost immediately. After a total resuscitation period of 34 min including seven counter-shocks and 2 mg epinephrine, the patient was stable enough to be transferred to the hospital. The patient soon went into VF again and received two more counter-shocks and 1 mg epinephrine and finally an intravenous bolus dose of 300 mg amiodarone. The initial arterial blood gas showed pH at 6.47, lactate at 33 mmol/l and potassium level at 2.3 mmol/l. Unfortunately, no blood samples for caffeine analysis were taken. Three days after hospital admission, the patient developed myoclonus, which did not respond to medical treatment. Excessive intake of caffeine may produce arrhythmias and pronounced hypokalemia and ensuing ventricular fibrillation. In case of counter-shock-resistant VF, it can be necessary to give an early loading dose of amiodarone. Furthermore, it may be beneficial to replace the potassium as early as possible. Epinephrine and buffer solutions used during resuscitation may further decrease blood potassium levels and should be administrated cautiously. Epinephrine can be replaced by other vasopressor drugs, such as vasopressin without effects on beta-receptors.
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PMID:A case of fatal caffeine poisoning. 2064 25

Paraneoplastic syndromes are defined as clinical syndromes that are not related to direct tumor invasion or compression but are secondary to tumor secretion of functional peptides/hormones or related to immune cross-reactivity with normal host tissue. Paraneoplastic syndromes have a wide range of presentations and can present before the primary malignancy or tumor recurrence is diagnosed. They can mimic non-neoplastic processes, making detection, diagnosis and treatment difficult. However, they can also provide clues to the presence of an underlying malignancy. In this paper, we reviewed a range of paraneoplastic syndromes that can occur in children including: (1) neurologic (opsoclonus-myoclonus, limbic, anti-N-methyl-d-aspartate [NMDA] and anti-Ma2 encephalitis and myasthenia gravis); (2) endocrine (neuroendocrine tumors, hypercalcemia, SIADH [syndrome of inappropriate antidiuretic hormone secretion], osteomalacia/rickets and ROHHAD [rapid onset of obesity, hypoventilation, hypothalamic dysfunction and autonomic dysregulation]); and (3) dermatologic/rheumatologic syndromes (hypertrophic osteoarthropathy and paraneoplastic pemphigus). Familiarity with these syndromes can aid in early diagnosis, treatment and imaging optimization.
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PMID:Review of paraneoplastic syndromes in children. 3087 39