Gene/Protein Disease Symptom Drug Enzyme Compound
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Amyloidosis is a rare disease caused by extracellular deposits of insoluble fibrillar proteins in various organs and tissues. There are different forms of amyloidosis distinguished by the type of protein fibrils, by the sites of deposition and by associated conditions. Gastrointestinal involvement is common both in primary and secondary amyloidosis, while isolated gastrointestinal amyloidosis is rare. We describe a case of AL amyloidosis with a gastrointestinal involvement and restrictive cardiomiopathy. A 64 year old woman came to our attention with a history of chronic diarrhoea and weight loss, associated with dysphagia, dry mouth, xerophtalmia, chronic gastritis and depression. Clinical diagnosis has been difficult because of aspecificity of symptoms that mimed other more common diseases, like gastro-paresis, epigastric discomfort, gastric or duodenal ulcers, perforation, malabsorption, intestinal pseudo-obstruction. There is an important risk of misunderstanding and diagnostic delay. Indeed in this patient a diagnosis of irritable colon syndrome was erroneously established two years before admission in our hospital. Therefore gastrointestinal amyloidosis should be considered among differential diagnoses of chronic diarrhoea and weight loss when other more common diseases have been excluded.
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PMID:Gastrointestinal amyloidosis: a case of chronic diarrhoea. 1953 May 11

We report a 75-year-old, right-handed man, presenting with supplementary motor area (SMA) seizure. The patient had suffered from frequent attacks of transient inability to speak and move without loss of awareness. On admission, he presented with vertical gaze paresis, axial rigidity, paratonia of extremities and gait disturbance. The attacks were preceded by discomfort on the head, followed by inability to move the whole body and arrest of vocalization with tonic posture and exaggerated breathing. Consciousness and cognitive function were preserved throughout the attacks. Electroencephalography recorded intermittently slow theta waves in the bifrontal regions. Brain MRI showed atrophy of the midbrain tegmentum with lacunar state suggesting progressive supranuclear palsy. SPECT with 123I-iomazenil revealed decreased uptake in the medial frontal areas including SMA, bilaterally. The seizures resolved completely following treatment with carbamazepine. Based on clinical features and neuroimagings, we speculated that the negative motor area within SMA was responsible for his seizure. Physicians should keep in mind that SMA seizure comprising negative motor phenomenon can occur in the elderly.
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PMID:[A case of progressive supranuclear palsy with late-onset supplementary motor area seizure]. 2068 Dec 67

An 18-month-old, female, spayed domestic ferret (Mustela putorius furo) was presented for progressive hind limb paresis of 1 week duration. The ferret was mentally appropriate but cachexic and ataxic with neurological deficits, which localized the lesion to the lumbosacral region. A depression in the lumbosacral spine was associated with discomfort on palpation. Results of whole body radiographs were consistent with an abnormal angle between vertebrae L6 and S1, which resulted in hyperflexion of the spine. The ferret was euthanized, and histopathological examination revealed an intramedullary lumbosacral teratoma effacing much of the spine in the region of the mass.
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PMID:Intramedullary lumbosacral teratoma in a domestic ferret (Mustela putorius furo). 2252 39

Background. Long-term splinting, using static orthoses to prevent contractures, is widely accepted in stroke patients with paresis of the upper limb. A number of stroke patients complain about increased pain and spasticity, which leads to the nonuse of the orthosis and a risk of developing a clenched fist. Objectives. Evaluating long-term use of static hand-wrist orthoses and experienced comfort in chronic stroke patients. Methods. Eleven stroke patients who were advised to use a static orthosis for at least one year ago were included. Semistructured telephone interviews were conducted to explore the long-term use and experienced comfort with the orthosis. Data were analyzed using descriptive statistics. Results. After at least one year, seven patients still wore the orthosis for the prescribed hours per day. Two patients were unable to wear the orthosis 8 hours per day, due to poor comfort. Two patients stopped using the orthosis because of an increase in spasticity or pain. Conclusions. These pilot data suggest that a number of stroke patients cannot tolerate a static orthosis over a long-term period because of discomfort. Without appropriate treatment opportunities, these patients will remain at risk of developing a clenched fist and will experience problems with daily activities and hygiene maintenance.
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PMID:Long-term use of a static hand-wrist orthosis in chronic stroke patients: a pilot study. 2353 61

The cosmetic use of botulinum toxin (BoNT) is the most common cosmetic procedure performed in the world today. Common adverse events seen in the aesthetic use of the BoNT include swelling, localized bruising, headaches, injection site discomfort, excessive muscle weakness, and unintended paresis of adjacent muscles. BoNT has a wide array of cosmetic uses, including treatment of glabellar lines, chemical browlift, forehead wrinkles, periorbital, and perioral lines. The future formulations and applications of BoNT type A will be plentiful, and are exciting to consider.
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PMID:Aesthetic uses of the botulinum toxin. 2426 19

Radiofrequency ablation is increasingly used as an option to optimally manage patients with symptomatic atrial fibrillation. Presently, ablationists strive to improve success rates, particularly with persistent atrial fibrillation, while simultaneously attempting to reduce complications. A well-recognized complication with atrial fibrillation ablation is injury to the phrenic nerve giving rise to diaphragmatic paresis and patient discomfort.Phrenic nerve damage may occur when performing common components of atrial fibrillation ablation including pulmonary and superior vena caval isolation. The challenge for ablationists is to successfully target the arrhythmogenic substrate while avoiding this complication. In order to do this, a thorough knowledge of phrenic nerve anatomy, points in the ablation procedure where nerve damage is more likely, and an understanding of the presently utilized techniques to avoid this complication is required. In addition, when this complication does arise, prompt recognition of its occurrence, knowledge of the natural history, and available methods for management are needed.In this review, we discuss the underlying anatomic principles, techniques of avoiding phrenic nerve damage, and presently available methods of diagnosing and managing this complication.
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PMID:The Phrenic Nerve And Atrial Fibrillation Ablation Procedures. 2849 27

In the present study pain/discomfort reduction in submental fullness treatment with the injections of a DC based drug (ATX-101, Allergan, Dublin, Ireland) premixed with lidocaine 2% on a sample of 12 patients retrospectively evaluated has been performed All patients indicated improvement in skin tightening from the 2nd month postinjection. Three patients had minor ecchymoses at the injection sites, which resolved spontaneously within 10 days posttreatment. One patient experienced dysesthesia of the treated area, which lasted approximately 40 days and resolved spontaneously. No other complications-such as nerve paresis or alopecia-were recorded. No patient required analgesic drugs postinjection.
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PMID:Deoxycholate (ATX-101) Mixed with Lidocaine to Minimize Pain/Discomfort in Nonsurgical Treatment of Submental Fullness Appearance. 3088 78


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