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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital nasolacrimal duct mucocele is an uncommon condition in the newborn. Prolapse or expansion of the mucocele into the nose may lead to respiratory distress and difficulty in feeding, as newborns are preferential nose breathers. Infants with congenital lacrimal sac distension should be examined for signs of respiratory distress and nasal pathology. In the presence of respiratory distress, nasal examination and imaging studies should be done to ensure the diagnosis of nasolacrimal duct mucocele. If significant respiratory distress exists, endoscopic marsupialization of the nasolacrimal duct mucocele in conjunction with nasolacrimal duct probing by the ophthalmologist and possible insertion of lacrimal drainage tubes should be considered. At our institution the nasolacrimal duct mucocele was expectantly managed in two of three cases. Only one of the three patients manifested a significant degree of respiratory distress and required intervention. Endoscopic marsupialization of the nasolacrimal duct mucocele resulted in complete resolution of the mucocele and improvement in symptoms.
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PMID:Congenital nasolacrimal duct mucocele: a cause of respiratory distress. 805 98

A 27-week-old girl, 936 gm, with initial diagnosis of birth asphyxia resulting from prolapse of the umbilical cord, respiratory distress syndrome, and suspected neonatal sepsis received antibiotics for the first 7 days of life. On day 24, evidence developed of acute Staphylococcus aureus endocarditis of the anterior leaflet of the mitral valve, and she died 4 days later. We believe that a rapid enlargement of the endocardial vegetation caused acute occlusion of the small mitral valve and was the cause of sudden death in this infant.
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PMID:Sudden death in neonate with staphylococcal endocarditis. 841 Mar 84

We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.
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PMID:X-linked recessive myotubular myopathy proven by muscle biopsy. 906 5

Myasthenia gravis (MG) is a rare complication of allogeneic bone marrow transplantation (BMT). We present the 11th case in the medical literature, a 23-year-old female 100 months post-allogeneic bone marrow transplantation for acute myelogenous leukemia (AML). After discontinuation of immunosuppression for chronic graft-versus-host disease (GVHD) involving skin, gastrointestinal tract and lacrimal glands, the patient developed severe, progressive dysphagia initially attributed to esophageal candidiasis. With the development of muscle weakness, ptosis, and dysphonia the diagnosis of generalized myasthenia gravis was suspected, and confirmed by elevated anti-acetylcholine receptor antibody titer and a positive edrophonium challenge. Prednisone and pyridostigmine produced improvement, and thymectomy was performed without pathologic evidence of thymoma. Recurrent post-operative respiratory distress required transient mechanical ventilation. Twenty-seven months after diagnosis, the patient requires maintenance prednisone to control symptoms of myasthenia gravis. The clinical features of all reported cases of MG post-allogeneic BMT are reviewed, and universal features include an association with decreasing immunosuppression, the presence of other manifestations of chronic GVHD, anti-acetylcholine receptor antibodies, and the absence of an associated thymoma. HLA Cw1, Cw7 and DR2 were identified at frequencies significantly above that expected from HLA antigen prevalance studies, and may be markers for increased risk of developing MG post-allogeneic BMT. No statistically significant associations with HLA A2, B7, B35 or donor-recipient sex mismatch were present. Reinstitution of immunosuppression and standard therapies for myasthenia gravis were effective in the majority of cases. The role of thymectomy in this population remains unclear.
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PMID:Myasthenia gravis in association with allogeneic bone marrow transplantation: clinical observations, therapeutic implications and review of literature. 915 70

This study correlates the mode of breech delivery to the immediate neonatal outcome in preterm breeches. We had 9816 deliveries in the period between 1st January 1994 to 31st August 1996. The incidence of breech deliveries was 3.95% and the incidence of preterm breech deliveries was 1.9%. Totally 112 (69%) patients delivered vaginally and 50 (31%) underwent caesarean section. Between 30-36.6 weeks gestation the incidence of birth asphyxia was higher in the vaginal group. In this group the take home baby rate after vaginal delivery was 81% as compared to 86% in caesarean group. Head entrapment, cord prolapse, respiratory distress syndrome and intraventricular haemorrhage were the various complications seen with vaginal breech delivery.
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PMID:Should a preterm breech go for vaginal delivery or caesarean section. 1073 22

A congenital nasolacrimal duct cyst is an uncommon condition in the newborn usually treated by ophthalmologists. Prolapse or expansion of the cyst into the nose may lead to respiratory distress and difficulty in feeding as newborns are obligate nose breathers, which needs the involvement of the Otolaryngologist in diagnosis and management. The authors report a series of 8 children presenting with a congenital nasolacrimal duct cyst and dacryocoele and highlight the importance of endoscopic nasal examination of newborns presenting with respiratory problems. Diagnostic studies included intranasal endoscopy and CT scanning of the nasolacrimal system and nose. All the patients were treated by endoscopic marsupialization of the cyst. Nasolacrimal duct abnormality should be considered in the differential diagnosis of neonatal respiratory distress and nasal obstruction. Nasal endoscopy is essential in the work-up of all children with nasal obstruction and respiratory distress. CT scanning is the investigative method of choice. Endoscopic marsupialization followed by lacrimal duct irrigation is effective in the treatment of congenital nasolacrimal duct cyst and results in complete resolution of symptoms.
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PMID:Endoscopic marsupialization of congenital nasolacrimal duct cyst with dacryocoele. 1207 90

We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. Physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex. Diagnosis of the disease was made according to fetal history, family history, muscle histopathology, electron microscopy, and genetic analysis. Subdural hemorrhage of brain and subcapsular hematoma of the liver were found at autopsy of Case 1. The results of molecular analysis of Case 2 and his family favored the diagnosis of X-linked CNM. Molecular studies can be easily performed with only minute amount of DNA of patients, and may help the clinician to predict which patients may be at the risk for medical complications.
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PMID:X-linked centronuclear myopathy. 1287 27

The congenital myasthenic syndromes (CMS) constitute a group of genetic disorders, which affect neuromuscular transmission, presenting usually within the first years of life and with a clinical spectrum ranging from mild muscle weakness to severe disability with life-threatening episodes. We present clinical and neurophysiological data of 11 patients (four males, seven females) with CMS diagnosed during the last 5 years. Eight of the 11 patients presented immediately after birth and the remainder by 10 months of age; eight patients had contractures at birth and seven of them required assisted ventilation either immediately in the neonatal period, or at some point afterwards due to respiratory distress or recurrent apnoeas. Neurological signs at presentation were: in nine patients profound hypotonia, in five absent tendon reflexes, in seven ptosis and in eight bulbar signs. In six patients an edrophonium test was performed: only three of them had a positive response; however, eight out of 11 patients responded at least partially at some point in their illness to pyridostigmine. Diagnosis of CMS was confirmed either by demonstration of a decrement after repetitive nerve stimulation or by increased instability and jitter after stimulated single fibre EMG. In five patients, there was a positive family history with death of at least one previous sibling with an undiagnosed neuromuscular disorder. As regards final outcome, five patients died at ages ranging from 1 to 17 months, two patients are still ventilator-dependent at 3 and 5 months of life, respectively, and four patients still survive with either a mild or a moderate motor delay (follow-up range 8-38 months). None of the clinical or neurophysiological characteristics were correlated with outcome (Fisher's exact test). We conclude that a significant number of CMS patients may present in the neonatal period with a variable clinical expression and usually with a poor prognosis. The recognition of specific clinical constellations combined with a search for aetiology at a molecular level will enable the further characterisation of subgroups of CMS.
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PMID:Clinical and neurophysiological characteristics of congenital myasthenic syndromes presenting in early infancy. 1472 15

Exposure to high oxygen concentration causes direct oxidative cell damage through increased production of reactive oxygen species. In vivo oxygen-induced lung injury is well characterized in rodents and has been used as a valuable model of human respiratory distress syndrome. Hyperoxia-induced lung injury can be considered as a bimodal process resulting (1) from direct oxygen toxicity and (2) from the accumulation of inflammatory mediators within the lungs. Both apoptosis and necrosis have been described in alveolar cells (mainly epithelial and endothelial) during hyperoxia. While the in vitro response to oxygen seems to be cell type-dependent in tissue cultures, it is still unclear which are the death mechanisms and pathways implicated in vivo. Even though it is not yet possible to distinguish unequivocally between apo-ptosis, necrosis, or other intermediate form(s) of cell death, a great variety of strategies has been shown to prevent alveolar damage and to increase animal survival during hyperoxia. In this review, we summarize the different cell death pathways leading to alveolar damage during hyperoxia, with particular attention to the pivotal role of mitochondria. In addition, we discuss the different protective mechanisms potentially interfering with alveolar cell death.
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PMID:Alveolar cell death in hyperoxia-induced lung injury. 1503 61

A 5 year-old spayed female Cavalier King Charles Spaniel was presented after a 3- to 5-day onset of severe respiratory distress. The dog also had a history of several episodes of syncope prior to presentation. A comprehensive diagnostic investigation revealed a midsystolic click sound on cardiac auscultation, signs of left sided cardiac enlargement in ECG and thoracic radiography, mitral valvular leaflet protrusion into left the atrium, decreased E-point-to septal separation (EPSS) and mitral regurgitated flow in echocardiography, all of which are characteristic signs of mitral valvular prolapse. After intensive care with diuretics [corrected] and a vasodilator with oxygen supplement, the condition of the dog was stabilized. The dog was then released and is being medicated with angiotensin converting enzyme (ACE) inhibitor with regular follow-up.
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PMID:Mitral valve prolapse in Cavalier King Charles spaniel: a review and case study. 1578 26


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