Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myasthenia gravis is a disease characterized by muscular weakness and fatigability which afflicts 2-10 patients per 100,000 with 20% of cases presenting in childhood. Muscles innervated by cranial nerves are frequently involved with ptosis and diplopia being the most frequent presenting complaints. We review the literature and report a case of a 20-month-old infant presenting with inspiratory stridor and cyanosis, resembling foreign body aspiration.
 ...
PMID:Juvenile myasthenia gravis: an unusual presentation. 221 Sep 54

Congenital laryngeal stridor (CLS) and laryngomalacia are terms used to describe a common disorder characterized by onset, at or soon after birth, of a harsh respiratory sound mostly audible during inspiration. Typically, laryngoscopy reveals flaccid supraglottic structures which tend to prolapse medially toward the glottis during inspiration. Despite reports of this disorder dating back to the mid-19th century, specific etiology and pathogenesis remain nebulous. Analysis of findings in 30 infants indicate that there are often associated manifestations of delayed development in neuromuscular control. Associated findings include gastroesophageal reflux, obstructive and central apnea, hypotonia, failure to thrive, and pneumonitis. A retrospective review of relevant medical literature along with results of laryngeal dissections and analysis of clinical findings in the 30 cases leads to the conclusion that CLS may be a mild form of localized hypotonia rather than an isolated idiopathic type of anatomic abnormality.
 ...
PMID:Congenital laryngeal stridor (laryngomalacia): etiologic factors and associated disorders. 649 35

We report 14 cases of extranodal sinus histiocytosis with massive lymphadenopathy involving a variety of head and neck sites. The patients ranged in age from 3 to 70 years (median, 43 years). Nine cases occurred in women and five occurred in men. The clinical presentation varied depending on the site of occurrence and included nasal obstruction, stridor, proptosis, ptosis, decreased visual acuity, facial pain or tenderness, cranial nerve deficits, mandibular tenderness, and mass lesions. Head and neck sites involved by disease included the nasal cavity, paranasal sinuses, nasopharynx, parotid gland, submandibular gland, larynx, temporal bone, infratemporal fossa, pterygoid fossa, meninges, and orbital region. The majority of patients presented with involvement of more than one site. Nodal involvement was identified in four patients. Special stains for microorganisms were negative. The sinus histiocytosis with massive lymphadenopathy cells demonstrated an immunophenotypic profile supporting derivation from macrophage/histiocytic lineage. Treatment varied and included surgical excision with or without adjuvant therapy (chemotherapy, radiotherapy) or steroids. Several patients required more extensive surgery as a result of extension of their disease to adjacent structures or due to recurrent disease. Twelve patients are alive and either free of disease or have persistent disease. Two patients died, one as a result of complications of disease.
 ...
PMID:Extranodal sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) of the head and neck. 849 88

A 52-year-old woman had a 14-year history of stridor attacks. Pulmonary function tests revealed reversible airway obstruction, and bronchial asthma was diagnosed. She also has bilateral ptosis, diplopia, and moderate weakness of all four limbs; a positive edrophonium test confirmed the diagnosis of myasthenia gravis. Although the parasympathetic system plays an important role in the regulation of bronchial tone, in this patient the edrophonium test did not provoke an asthmatic attack or exacerbate pulmonary function, except for increases in sputum production and in frequency of cough. The general weakness was usually worse in the afternoon. The decrease in grip strength and the shortening of arm elevation time also occurred after asthma attacks, which means that general muscle fatigue was caused by the work of breathing. Furthermore, dyspnea increased and pulmonary function worsened when an anti-cholinesterase inhibitor was discontinued, probably because of respiratory muscle weakness. Accordingly, the clinical status of bronchial asthma seemed to change in parallel with that of the myasthenia gravis.
 ...
PMID:[Bronchial asthma complicated by myasthenia gravis]. 869 67

We have observed 5 infants who demonstrate normal breathing when awake, but develop stridor while asleep. Flexible laryngoscopy in the awake state reveals either a normal larynx or redundancy of the aryepiglottic folds or arytenoid soft tissue without prolapse into the laryngeal inlet. When these children are sedated, however, the classic signs of laryngomalacia appear. Wet inspiratory stridor with concomitant supraglottic prolapse can be demonstrated by flexible videolaryngoscopy in this state. As these findings vary with level of consciousness, we have dubbed this condition "state-dependent" laryngomalacia. We believe the appearance and disappearance of classic laryngomalacia with changes in level of consciousness adds credence to the neurogenic theory of laryngomalacia.
 ...
PMID:State-dependent laryngomalacia. 937 76

Historical, clinical and experimental data were collected from 9 horses homozygous for HYPP (H/H). All showed episodes of respiratory stertor, described as a rattling or honking sound, usually within the first week post partum. Five horses had one or more episodes of dysphagia, in 3 horses this was accompanied by drooling and in 3 by weight loss. In comparison, only one of 35 contemporaneous half siblings (of which approximately half would be expected to be of the H/N genotype and half N/N) was observed to have respiratory stertor prior to weaning and none had problems with dysphagia. One mature homozygous stallion was infertile secondary to urospermia. Six homozygous horses died or were subjected to euthanasia; 4 age less than a year, one age 20 months and one age 5 years. The remaining 3 cases were still alive at the end of the study. A comparison of homozygous and heterozygous horses using standardised potassium chloride challenge testing indicated that during attacks homozygotes showed significantly more frequent signs of drooling, prolapse of the third eyelid, respiratory stridor and weakness than heterozygous horses. Homozygotes also had significantly more total abnormalities (including myotonic discharges, high frequency repetitive discharges, and spontaneous activity) on electromyographic examination than heterozygotes. These data imply that HYPP is inherited as a codominant genetic defect, because the homozygotes showed more severe clinical signs of disease than heterozygotes. Homozygous foals would be expected to be produced in 25% of matings in which both parents are heterozygous. Owners and veterinarians should be aware of the risks of this mating.
 ...
PMID:Hyperkalaemic periodic paralysis in homozygous and heterozygous horses: a co-dominant genetic condition. 1021 28

A 27-year-old female presented with a several-day history of acute onset inspiratory stridor and shortness of breath that worsened with phonation and minimal exertion. Flexible fiberoptic direct laryngoscopy revealed prolapse of the mucosa overlying the arytenoid cartilages bilaterally, consistent with type 1 laryngomalacia. These symptoms persisted with only minimal improvement despite administration of short-term corticosteroids, several weeks of antireflux medications, and other conservative measures. The patient underwent a supraglottoplasty and exhibited a marked improvement in her symptoms. The literature describes several cases of exercise-induced laryngomalacia in both pediatric and adult populations in which symptoms of inspiratory stridor and shortness of breath are induced by exercise but resolve upon its discontinuation. Adult laryngomalacia appears to be a clinical entity distinct from exercise-induced laryngomalacia because symptoms fail to resolve after several weeks of medical therapy and discontinuation of exertional activity. This case suggests that adult laryngomalacia, unlike pediatric and exercise-induced laryngomalacia, is less likely to resolve over time with conservative management and may require surgical intervention with supraglottoplasty necessary to alleviate symptoms.
 ...
PMID:Adult laryngomalacia: an uncommon clinical entity. 1243 Jan 34

Exercise-induced laryngomalacia (EIL) is characterized by inspiratory stridor that is brought on by exercise (i.e. competitive sports) and fails to respond to treatment with bronchodilators (Smith et al., Ann Otol Rhinol Laryngol 1995;104:537-541). During exercise, (1) spirometric flow volume loops show evidence of variable extrathoracic obstruction, and (2) laryngoscopy shows inspiratory prolapse of supraglottic structures with partial glottic obstruction. Only five cases of probable EIL have been reported in the literature (Smith et al., Ann Otol Rhinol Laryngol 1995;104:537-541; Lakin et al., Chest 1984;86:499-501; Bittleman et al., Chest 1994;106:615-616; Bent et al., Ann Otol Rhinol Laryngol 1996;105:169-175; Chemery et al., Rev Mal Respir 2002;19:641-643). Here, a case of laryngomalacia induced by exercise in a previously asymptomatic 10-year-old athlete with a remote history of laryngomalacia in infancy is presented, and a review of previously reported cases is provided.
 ...
PMID:Laryngomalacia induced by exercise in a pediatric patient. 1290 57

Anti-MuSK antibodies have been reported in about 40-50% of patients with seronegative myasthenia gravis. Curiously, this condition has never been reported in association with fetal or transient neonatal myasthenia gravis, despite a known female predominance. We report the case of a 22-year-old woman who developed seronegative, mild steroid-responsive myasthenia gravis. When aged 26, she gave birth to a baby boy with neonatal myasthenia gravis characterized by hypotonia, stridor and sucking difficulties. Intubation was required for a few weeks. Anti-MuSK antibodies were assessed and found positive in both patients. Progressive hydramnios during the last trimester, with a decrease in spontaneous fetal mobility in the last weeks, long-lasting stridor, ptosis and occasional difficulties in swallowing liquids till two years of age, despite anti-MuSK antibodies becoming negative, suggest a fetal onset. The possible pathophysiology of this disorder, based on recent findings on the expression and function of MuSK protein, is reviewed.
 ...
PMID:Severe neonatal myasthenia due to maternal anti-MuSK antibodies. 1843 54

The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone, 11 to Pyridostigmine with either 3, 4 DAP or Ephedrine and five to Ephedrine alone. Twenty one children required acute or chronic respiratory support, with tracheostomy in 4 and nocturnal or emergency non-invasive ventilation in 9. Eight children had gastrostomy. Another 11 were underweight for height indicative of failure to thrive and required dietetic input. A high index of clinical suspicion, repeat EMG by an experienced electromyographer and, if necessary, a therapeutic trial of Pyridostigmine facilitates the diagnosis of CMS with subsequent molecular genetic confirmation. This guides rational therapy and multidisciplinary management, which may be crucial for survival, particularly in pedigrees where previous deaths have occurred in infancy.
 ...
PMID:Congenital myasthenic syndromes in childhood: diagnostic and management challenges. 1870 67


1 2 Next >>