Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical diagnosis of multiple system atrophy is challenging and many patients with Lewy body disease (i.e. Parkinson's disease or dementia with Lewy bodies) or progressive supranuclear palsy are misdiagnosed as having multiple system atrophy in life. The clinical records of 203 patients with a clinical diagnosis of multiple system atrophy were reviewed to identify diagnostic pitfalls. We also examined 12 features supporting a diagnosis of multiple system atrophy (red flag features: orofacial dystonia, disproportionate antecollis, camptocormia and/or Pisa syndrome, contractures of hands or feet, inspiratory sighs, severe dysphonia, severe dysarthria, snoring, cold hands and feet, pathological laughter and crying, jerky myoclonic postural/action tremor and polyminimyoclonus) and seven disability milestones (frequent falls, use of urinary catheters, wheelchair dependent, unintelligible speech, cognitive impairment, severe dysphagia, residential care). Of 203 cases, 160 (78.8%) were correctly diagnosed in life and had pathologically confirmed multiple system atrophy. The remaining 21.2% (43/203) had alternative pathological diagnoses including Lewy body disease (12.8%; n = 26), progressive supranuclear palsy (6.4%; n = 13), cerebrovascular diseases (1%; n = 2), amyotrophic lateral sclerosis (0.5%; n = 1) and cerebellar degeneration (0.5%; n = 1). More patients with multiple system atrophy developed ataxia, stridor, dysphagia and falls than patients with Lewy body disease; resting tremor, pill-rolling tremor and hallucinations were more frequent in Lewy body disease. Although patients with multiple system atrophy and progressive supranuclear palsy shared several symptoms and signs, ataxia and stridor were more common in multiple system atrophy. Multiple logistic regression analysis revealed increased likelihood of multiple system atrophy versus Lewy body disease and progressive supranuclear palsy if a patient developed orthostatic hypotension or urinary incontinence with the requirement for urinary catheters [multiple system atrophy versus Lewy body disease: odds ratio (OR): 2.0, 95% confidence interval (CI): 1.1-3.7, P = 0.021; multiple system atrophy versus progressive supranuclear palsy: OR: 11.2, 95% CI: 3.2-39.2, P < 0.01]. Furthermore, autonomic dysfunction within the first 3 years from onset can differentiate multiple system atrophy from progressive supranuclear palsy (multiple system atrophy versus progressive supranuclear palsy: OR: 3.4, 95% CI: 1.2-9.7, P = 0.023). Multiple system atrophy patients with predominant parkinsonian signs had a higher number of red flag features than patients with Lewy body disease (OR: 8.8, 95% CI: 3.2-24.2, P < 0.01) and progressive supranuclear palsy (OR: 4.8, 95% CI: 1.7-13.6, P < 0.01). The number of red flag features in multiple system atrophy with predominant cerebellar signs was also higher than in Lewy body disease (OR: 7.0, 95% CI: 2.5-19.5, P < 0.01) and progressive supranuclear palsy (OR: 3.1, 95% CI: 1.1-8.9, P = 0.032). Patients with multiple system atrophy had shorter latency to reach use of urinary catheter and longer latency to residential care than progressive supranuclear palsy patients, whereas patients with Lewy body disease took longer to reach multiple milestones than patients with multiple system atrophy. The present study has highlighted features which should improve the ante-mortem diagnostic accuracy of multiple system atrophy.
 ...
PMID:Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study. 3149 60

Schwannomas are the most common benign tumors arising from the peripheral nerve sheath, and the intraoral location is very atypical, representing less than 1% of all cases. Surgical excision is the treatment of choice, and a variety of surgical approaches have been described. The authors report the first described case of tongue base schwannoma treated with transoral robotic surgery (TORS). A 47-years-old female patient complaining mild dysphagia and snoring, presented a submucosal swelling at the right side of the tongue base. MRI showed a large well-circumscribed solid mass, homogeneously isointense in T1WI and hyperintense on T2WI, with no lymph node metastasis. According to size, location and radiological characteristic of the mass a TORS approach was chosen. An extracapsular dissection was performed, and the lesion was completely removed with no intraoperative complications. The final diagnosis based on histopathological examination and IHC analysis (S-100 positive) was a schwannoma of the tongue base. The post-operative course was uneventful, and no recurrence was observed after 6 months of follow-up. This study demonstrates the feasibility of TORS in the treatment of a tongue base schwannoma. This is a valid alternative to the common transoral approach in order to avoid more invasive external approaches, and further studies are recommended in order to clarify if this approach could be proposed as the first line treatment in selected cases.
 ...
PMID:Transoral Robotic Surgery in the Management of a Tongue Base Schwannoma. 3219 40

In children, a malignant lymphoma can present with life-threatening complications arising from progressive tumour growth, warranting swift diagnosis and treatment. Early recognition can be challenging if a child with paediatric lymphoma presents with abdominal and throat symptoms because of the frequency, and frequently benign nature, of these symptoms in the general paediatric population. In these cases, it is essential for the physician to recognize the alarm signals for suspicion of malignant lymphoma, to allow timely diagnosis and treatment. We present two cases (children age 8 and 16 years) demonstrating the symptoms of malignant lymphoma that should raise alarm in children presenting with unilateral tonsil enlargement or intussusception, and illustrating the importance of timely recognition of these alarm signals, to prevent life-threatening complications due to tumour progression. In patients presenting with unilateral tonsil enlargement, malignant lymphoma should be considered if atypical macroscopic tonsil morphology, cervical lymphadenopathy, dysphagia, snoring, fever or weight loss is present. The presence of a lead point as the cause of intussusception should be considered in children aged > 2 years of age, in a child with an ileo-iliac intussusception and in patients with longstanding abdominal symptoms. In patients presenting with simultaneous symptoms and alarm signals for malignant lymphoma, the relationship between the presenting symptoms should be recognized. Interdisciplinary and intradisciplinary consultation with colleagues can help in the search for an overarching diagnosis, and it is crucial that this should happen without delay to prevent acute life-threatening situations.
 ...
PMID:[Throat and abdominal symptoms in malignant lymphoma; recognize the alarm signals in children]. 3226 35


<< Previous 1 2 3 4 5 6