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

Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim of the present study was to determine whether a specific pattern of swallowing abnormalities could be identified in MD patients, and the possible correlation with the size of CTG repeats. Fifteen MD patients, 8 of whom were asymptomatic for dysphagia, underwent a videofluoroscopic study of swallowing. Alterations of the pharyngoesophageal phase of swallowing were detected in 12 of 15 patients, 6 without clinical evidence of dysphagia. Incomplete relaxation of the upper esophageal sphincter (UES) and esophageal hypotonia were the most common alterations. We found a significant correlation between the number of radiological alterations and the size of CTG repeats. A typical radiological pattern of swallowing has also been identified. The role of videofluoroscopy in evaluation of MD patients is briefly discussed.
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PMID:Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients. 1093 40

Botulism is a rare but severe disease. Whereas until 1980, only one case of botulism had been reported in our department, in 1999, a real botulism epidemic took place in Morocco. To our knowledge, it's the first outbreak of that kind in Morocco. We report here an epidemiologic and descriptive study of 11 patients suffering from botulism, admitted at the Infectious Diseases department and in the Medical Intensive Care Unit of Ibn Rochd University Hospital, from August, the 10th to October, the 1st, 1999. Clinical diagnosis of botulism was made, at the admission, on ocular signs (diplopia, ptosis), swallowing troubles and/or muscle weakness. There was no fever, no trouble of conscience and normal reflexes, at the early stage of the disease. The average age of patients was of 23.9 years +/- 12.07. Three patients were first admitted in the Medical Intensive Care Unit. The period before symptom appearance varied between 7 and 96 hours. Dysphagia sore throat, dry mouth and dysphonia were always found in all patients, with normal conscience. The fever was noted in 3 cases, polypnea in 3 cases leading to respiratory assistance in 2 cases. Neurologic findings were dominated by ptosis and hypotonia. The search of botulism toxin B in blood was positive in 6 cases. The electromyography showed clear signs of botulism. The evolution was favourable in 10 cases. Respiratory complications were found in 2 cases and infectious complications in 4 cases. One patient died. The period of hospitalization varied between 10 to 24 days with an average stay of 15.8 days. Eating "mortadella" has been noticed in 7 patients) and investigations permitted to identify the factory of "mortadella" as well as the toxin's type B responsible for these poisoning. It appears clearly that it is important to reinforce hygiene controls. Physicians and specialists in public health must be aware of the severity of this illness, knowing that the recovery is shortened when the treatment is administered on an early stage of the disease.
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PMID:[Botulism in Casablanca. (11 cases)]. 1259 77

Modifications of phonation occurring after total thyroidectomy (TT) are usually attributed to surgical malpractice, but other causes of voice impairment even in nonoperated subjects should also be taken into account. This study analyzes 208 patients who underwent TT from January 1, 1999 through December 31, 2001. Follow-up ended on December 31, 2003. Only cases in which the surgeon ruled out the possibility of operative damage to the laryngeal nerves were included. All patients underwent pre- and postoperative clinical and instrumental nose and throat examination (NTE). Preoperatively, 86 patients (41%) showed hoarseness or dysphagia: 4 (2%) monoplegia and 12 (6%) hypomobility of the vocal cords due to impaired function of the recurrent laryngeal nerve (RLN); 6 (3%) cord hypotonia due to impairment of the superior laryngeal nerve (SLN); 34 (16%) dysphagia: and 30 (14%) hoarseness due to other causes. At follow-up 1 month after surgery, 71 patients (34%) had an onset of previously absent signs and symptoms: 8 (4%) had palsy of one vocal cord (2% permanent); 6 (3%) had cord hypomobility (all temporary); 12 (6%) had cord hypotonia due to disease of the SLN, 4 of which (2%) were permanent; 44 patients (21%) had symptoms due to scarring and adhesions between the laryngotracheal axis and the prethyroid muscles and between these and the skin. One patient (0.5%) had a nodular cord lesion that occurred after 3 months. Overall, more than one-third of the patients had preoperative voice modifications or swallowing impairment, around one-third had these problems after TT, and less than one-third were free of pre- and postoperative complications. The surgeon's care to avoid damage to the anatomica integrity of the of laryngeal nerves does not exclude functional problems of the nerves and of laryngeal dynamics. In fact, such problems could be referred to outcomes linked to the operation itself (hematoma, edema, scarring adhesion) or to events that only temporarily follow surgery but must be considered as an unavoidable sequel (e.g., neuritis, viral neuritis, myopathy). The patient should undergo a careful clinical and instrumental NTE to detect conditions prior to surgery, and the information provided by the surgeons should be thorough to allow the patient to be aware of all possible sequels and consequences.
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PMID:Recurrent laryngeal nerve damage and phonetic modifications after total thyroidectomy: surgical malpractice only or predictable sequence? 1589 96

A 27-year-old male intravenous drug user presented to the Emergency Department of St James's Hospital with a 1-week history of progressive dysphasia, dysphagia and difficulty 'holding his head up' and 'keeping his eyes open'. He also complained of increasing weakness in his upper limbs, as a result of which he kept dropping things. He was on a methadone program but was using both intravenous heroin and cocaine at the time of presentation. Examination of his motor function revealed generalized hypotonia, hyporeflexia and reduced power in both upper limbs. No sensory loss was observed. Co-ordination was intact. The clinical picture of a proximal symmetrical descending weakness and an absence of sensory loss was suggestive of botulism. Clostridium botulinum is a spore-forming, obligate anaerobe. The three forms of human botulism are food-borne, wound and intestinal. A fourth man-made form is produced from aerosolized botulinum toxin and results in inhalational botulism. A little as 1 g of aerosolized botulinum toxin has the potential to kill 1.5 million people. Toxin is detected in serum or stool specimens in only approximately 46% of clinically diagnosed cases. Treatment involves supportive care and early passive immunization with equine antitoxin. Patients should be regularly assessed for loss of gag and cough reflex, control of oropharyngeal secretions, oxygen saturation, vital capacity and inspiratory force. When respiratory function begins to deteriorate, anticipatory intubation is indicated. Early symptom recognition and early treatment with antitoxin are essential in order to prevent mortality, and to prevent additional cases, it is important to ascertain the presence of similar symptoms in contacts of the patient and local public health officials must be notified as one case may herald an outbreak. Given the continued threat of bioterrorism, the Centre for Disease Control Surveillance System in the United States must also be notified of any cases of botulism.
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PMID:Descending polyneuropathy in an intravenous drug user. 1617 64

In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal deposition of C5-9 membrane attack complex and calcium, histologically indistinguishable from childhood-onset X-linked myopathy with excessive autophagy (XMEA). Haplotype analysis suggests that this new AVM and XMEA may be allelic despite different clinical presentations.
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PMID:A new congenital form of X-linked autophagic vacuolar myopathy. 1621 76

Niemann-Pick type C1 (NPC1) disease is an autosomal recessive disorder characterized clinically by neonatal jaundice, hepatosplenomegaly, vertical gaze palsy, ataxia, dystonia, and progressive neurodegeneration. The present study provides basic clinical and health information from the National Niemann-Pick C1 disease database that was obtained using a clinical questionnaire of 83 questions mailed to families affected by NPC1 disease living in the United States. The study was conducted over a 1-year period, during which time parents/caregivers and physicians completed the clinical questionnaire. Sixty-four percent (87/136) of the questionnaires were returned, with 53% and 47% representing male and female NPC1 patients, respectively. The average age of diagnosis for NPC1 disease was 10.4 years, with one-half of patients being diagnosed before the age of 6.9 years. The average age of death for NPC1 disease was 16.2 years, with one-half of patients dying before the age of 12.5 years. A common clinical symptom reported at birth was neonatal jaundice (52%), followed by enlargement of the spleen (36%) and liver (31%); ascites (19%) and neonatal hypotonia (6%) were much less frequent. With respect to developmental difficulties, the most common findings included clumsiness (87%), learning difficulties (87%), ataxia (83%), dysphagia (80%), and vertical gaze palsy (81%). Together, these findings confirm and extend previous reports investigating the clinical features associated with NPC1 disease.
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PMID:The National Niemann-Pick C1 disease database: report of clinical features and health problems. 1749 24

The case of a term, male neonate (birthweight 3785g) with cephalic presentation, Caesarean-section (C-section) delivery, and failure to thrive is reported. The infant presented with generalized hypotonia and respiratory failure immediately following birth. An initial diagnosis of hypoxic-ischemic encephalopathy was made. However, ventilator dependency and slow recovery of generalized tonus over the following weeks could not be explained. Late cervical magnetic resonance imaging showed extensive syringomyelia from C2 to C7. To the authors' knowledge, this is the first report of syringomyelia after a C-section delivery following cephalic presentation without any associated abnormalities. Follow-up at 2 years of age revealed no improvement on neurological examination: poor head control, difficulty swallowing, flaccid paralysis of upper limbs, and spasticity of lower limbs with exacerbated deep reflexes and spontaneous clonus. Difficulties in establishing the diagnosis and managing the case are discussed.
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PMID:Syringomyelia and chronic respiratory failure in a term infant delivered by Caesarean section. 1759 28

To review the clinical and pathological characteristics of spinal muscular atrophy (SMA) in general and in particular regarding the ENT. SMA is relatively rare in the head and neck. Dysphagia is the main symptom. Retrospective review of 9 patients from the same family comprising the original patient, brothers, sister, and cousins with a diagnosis of SMA. Dysphagia and muscular hypotonia in upper members were the main presenting symptoms. The ENT exploration, oesophageal transit, electromyography, and genetic tests were necessary for the diagnosis. In our experience, the treatment of dysphagia in neurological diseases is poor as we have confirmed through a literature review. Thanks to rehabilitation units for swallowing and voice disorders, ENT specialists are involved in the treatment and training of these patients for a better quality of life.
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PMID:[Spinal muscular atrophy in the ENT area]. 1794 68

Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked form is caused by mutations in the MID1 gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No MID1 mutation was found, but subsequent sub-megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance ("Greek helmet facies"), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS.
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PMID:Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. 1807 89

The report presents a definition and causes of syncope in children. Syncope differs from other states with loss of consciousness by causes leading to decreased perfusion and resultant transient cerebral dysfunction with decreased muscle tone. The most common causes of syncope noted in almost 15% of children are neurocardiogenic. This group includes vasovagal, carotid sinus reflexive, situational (coughing, dysphagia, micturation and defecation disturbances) and post-exercise syncope. Another group is represented by orthostatic syncope that may be triggered by primary and secondary dis-autonomy, decreased blood volume (hemorrhage, diarrhea, Addison's disease), some medications and substances of abuse (alcohol). An important group, accounting for 2%-6% of all cases, are cardiogenic syncope, caused mainly by congenital/acquired obstructive cardiac sub- and valvar heart defects, various cardiomyopathies, some heart tumors (e.g. myxoma), exudative pericarditis, pulmonary embolus and hypertension, congenital and acquired coronary anomalies, various significant brady-tachyarrhythmias (sick sinus syndrome, supra- and ventricular tachycardias, congenital and acquired atrio-ventricular blocks). Subclavian steal syndrome as the cause of syncope is exceptional in children. Syncope does not include loss of consciousness due to neurological and metabolic (hypoglycemia) causes, hypoxia, hyperventilation with hypocapnia or CO intoxication. Differential diagnosis should also include pseudo-syncope (hysteria). Preliminary diagnostic management should include a detailed medical history, including family history, on the frequency and circumstances of syncope, sudden deaths, a physical exam with orthostatic assessment of peripheral blood pressure and standard ECG (heart rate, intraventricular and atrioventricular conduction defects, cardiac hypertrophy, arrhythmias, L-QT, changes in ST-T). Further specialist tests depend on preliminary findings.
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PMID:[Syncope in children and adolescents]. 1843 21


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