Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

McLeod syndrome was originally described on the basis of a specific blood group phenotype with weak expression of Kell antigens. This erythrocyte abnormality also causes acanthocytosis. The haematological findings are associated with abnormalities in other organ systems, including neuromuscular manifestations. A 51-year-old patient was followed up for 11 years. He presented with persistent muscle creatine kinase elevation and progressive heart disease and later developed a slowly progressive neuropathy and choreic movements. His younger brother presented with grand mal seizures, involuntary movements and high muscle creatine kinase when aged 43 years. Clinical myopathy was absent in both, yet muscle biopsy showed mild myopathic changes. The presence of a motor axonopathy was supported by electrophysiological findings. One brother also showed sensory axonopathy. The movement disorder suggested accompanying basal ganglia dysfunction. Earlier reports of McLeod syndrome are reviewed with respect to neuromuscular involvement. Absence of the Kx membrane protein seems to be the cause of this multi-system disorder.
 ...
PMID:McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. 151 5

The disease is named after George H. Whipple who, in 1907, was the first to describe an intestinal "lipodystrophy". Although Whipple's disease is generally recognized as a multisystem chronic granulomatous disease, primarily involving the digestive system, it can also appear as a primary neurological disorder in rare cases. Most often it is manifested with loss of weight, diarrhea, malabsorption, abdominal pain, lymphadenopathy, cardiopathy, hyperpigmentation and hypotension. The presence of periodic acid-Schiff (PAS)-positive macrophages in biopsy specimens (not only jejunal) and demonstration of "Whipple's bacilli" visible by electron microscopy, are diagnostic signs of active Whipple's disease. Whipple's disease confined to the CNS is rare. It is rarely found in the differential diagnosis of patients with progressive neurological deterioration. The most common neurological picture includes progressive dementia, external ophalmoplegia, myoclonus, seizures, ataxia, hypothalamic dysfunction (sleep disorders, hyperphagia, polydipsia) and meningitis. Oculofacial-skeletal myorhythmia as a movement disorder, associated with Whipple's disease, is reported. Fulminant course of cerebral Whipple's disease is unusual and unfavourable. The confusing and nonspecific clinical appearance is typical for primary CNS involvement. It has recently been suggested that CNS involvement occurs in all cases, although only 10-20% of patients may show it. The CNS is the most common site of disease relapse. The CT scans and MRI of the brain are often normal, but may show cortical/subcortical atrophy, hydrocephalus, focal or intracerebral mass lesions. The cerebrospinal fluid can sometimes contain PAS-positive macrophages. Brain biopsy is suggested as a diagnostic method in cases of high suspicion of CNS Whipple's disease. However, the lesions are frequently inaccessible and false negative. Without extended antibiotic therapy, the course of Whipple's disease is lethal. Now, the prognosis is good, although the optimal antimicrobial regimen is not clearly established. Initial parenteral therapy (tetracycline, penicilline, streptomycine, chloramphenicol, ampicilline) and peroral long-term treatment with trimetoprime-sulphametoxasole, are recommended. As CNS relapse of Whipple's disease may occur after several years, long-term treatment should include antibiotics that are able to cross the blood-brain barrier. The CNS relapse, in contrast to the systemic ones, is resistant to the treatment. Appropriate therapy instituted earlier in the course of the disease is associated with a better neurological outcome. Early recognition can be critical in Whipple's disease because of irreversible neurological sequelae seen later in the course of this potentially treatable condition. In cases with high clinical suspicion in which Whipple's disease cannot be diagnosed with procedures such as jejunal biopsy, antibiotic therapy is recommended. Recovery of an established neurological deficit may rarely occur. Longterm follow-up studies would help to identify the optimal antibiotic regimen and duration of treatment.
 ...
PMID:[Neurologic disorders in Whipple's disease]. 910 28

Stress and shortage of sleep may cause daytime somnolence and impaired vigilance at the wheel, especially among those suffering from sleep disturbances. According to the international consensus meeting in Stockholm in May of 2000 on "The sleepy driver and pilot--causes, risks and countermeasures", drowsy driving is an underestimated risk factor in official statistics, and as many as 15-30 percent of today's traffic accidents are related to drowsiness; thus it is an even greater risk factor than alcohol. Drowsy drivers suffer from inattention, impaired concentration and may even fall asleep at the wheel. Accidents during dozing result in three times as many fatalities as other accidents. There are a number of reasons for habitual drowsiness at the wheel aside from sleep deprivation, including rhonchopathy, shift work and jet lag, mental depression, insomnia, narcolepsy, endocrinological diseases, periodic limb movement disorder, medication, pain-disordered sleep, and heart disease. Among the most active drivers, i.e. middle aged men, obstructive sleep apnea syndrome (OSAS) has been found to be the most common reason for habitually drowsy driving. OSAS causes a 2-3 fold increased risk of traffic accidents, and it impairs simulated driving. Palatoplasty as well as nasal CPAP have been shown to improve vigilance and driving performance to an extent that the increase in risk is eliminated. Drivers suffering from habitual drowsiness and micro-sleep attacks forcing them to take repeated rests are at special risk. Even if they are as dangerous as drivers with unlawful blood alcohol levels they cannot be caught in a police checkpoint. However they often seek medial advice, and properly treated they may often return safely to traffic. If not, there could be a need to report them to the authorities so as to limit or prohibit their driving.
 ...
PMID:[Drowsiness--greater traffic hazard than alcohol. Causes, risks and treatment]. 1146 75

Choreoathetotic syndromes are frequently observed in children after congenital cardiopathy surgery. To report the case of an adult patient who developed a choreoathetotic syndrome after cardiac operation, probably related to a transitory hypometabolism of basal ganglia. A 52-year-old patient underwent heart surgery under circulatory arrest and deep hypothermia, for type III dissecting thoracic aorta aneurysm. Two weeks later she developed an acute choreic syndrome. The positron emission tomography using fluorodeoxyglucose (FDGC-PET) showed a bilateral hypometabolism of basal ganglia. After haloperidol administration, choreic syndrome improved and 6 months later FDGC-PET was normal. Choreoathetosis has been described as a rare complication after heart surgery. The authors suggest that this movement disorder may be related to hypothermia that can induce a reversible basal ganglia metabolic damage.
 ...
PMID:Late-onset choreoathetotic syndrome following heart surgery. 1986 75