1/28. Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.BACKGROUND: The authors describe the clinical and pathologic characteristics of the Fukuoka 1 family, the first Japanese family recognized to have hereditary parkinsonism associated with depression, weight loss, and central alveolar hypoventilation. methods: The pedigree contains 14 family members spanning four generations, with five affected individuals. All available medical records were collected for affected members, including autopsy results. RESULTS: The inheritance pattern was autosomal dominant. The average age at onset of symptoms was 41 years. All patients had parkinsonism characterized by rigidity, bradykinesia, and resting and postural tremor. Bradykinesia and depression developed in the proband at age 43 years. He responded to levodopa in the initial stage only. A year later, he had weight loss and central hypoventilation leading to respiratory failure. Symptoms developed in his cousin at age 38 years. The proband's father developed a resting tremor and depression at age 43 years. The tremor was initially responsive to levodopa therapy, but the disease was relentlessly progressive, leading to severe bradykinesia, rigidity, weight loss, and respiratory distress. He died of respiratory failure at age 49 years. autopsy showed marked neuronal loss and gliosis in the substantia nigra and locus ceruleus. lewy bodies, neurofibrillary tangles, senile plaques, and other abnormal structures were not seen in the cortical and subcortical regions. CONCLUSIONS: The Fukuoka 1 family shares many clinical and pathologic features with five previously reported kindreds from north america and europe, suggesting that this syndrome has a worldwide distribution and can occur in different ethnic populations.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
2/28. A case of primary alveolar hypoventilation associated with mild proximal myopathy.A 34-year-old man presented with clinical features of primary alveolar hypoventilation, but was found additionally to have an adult onset myopathy caused by acid maltase deficiency. This was not severe, as judged clinically, and was initially overlooked. His vital capacity and sprint maximal ventilatory volume were only slightly reduced, and the ventilatory response to CO2 was virtually absent. There was, however, a mild impairment in the ability to decrease Pco2 to normal by voluntary hyperventilation. The relation of myopathy and alveolar hypoventilation is discussed, and it is proposed that the primary muscle disease predisposed the patient to the development of the ventilatory abnormality.- - - - - - - - - - ranking = 6keywords = alveolar (Clic here for more details about this article) |
3/28. Central hypoventilation during quiet sleep in two infants.Expired ventilation (VE), tidal volume (VT), frequency (f), and alveolar PCO2 (PACO2) were examined in six normal infants at 41 to 52 weeks post-conceptional age and in two infants who were apneic at birth. Their response to breathing 5% carbon dioxide in air and to 100% oxygen in quiet sleep were compared to those in rapid eye movement (REM) sleep. VE in normal infants was 259 ml/kg/min in REM and 200.2 ml/kg/min in quiet sleep with the difference being due to decreased carbon dioxide production and to decreased dead space. VE increased 34.4 ml/kg/min/mm Hg of PCO2 elevation with 5% carbon dioxide breathing during REM and was not significantly different during quiet sleep. During oxygen breathing VE fell by 32.7% at 30 seconds before increasing again. In the affected infants, VE and PACO2 during REM at 1 and 4 months were normal. At 1 month, during quiet sleep, each infant became apneic and PACO2 rose 9 and 8 mm Hg/min respectively. At this time mechanical ventilation was begun. At 4 months, during quiet sleep, VE was 0.064 and 0.063 ml/kg/min at PACO2 of 66 mm Hg in each infant. The change was due entirely to a decrease in VT to 2.3 and 2.5 ml/kg. At this time 5% carbon dioxide breathing given during normal ventilation in REM produced an abrupt fall in VT to 2.0 and 2.2 ml/kg with no change in frequency. oxygen breathing during REM at one month had no effect but at 4 months produced apnea requiring mechanical ventilation after one minute. The findings suggest that the ventilatory response to carbon dioxide is (1) important in initiation of extrauterine ventilation and (2) in sustaining ventilation particularly in quiet sleep. It is not necessary in sustaining ventilation awake or in REM sleep and it represents a balance between the stimulatory and depressant effects of carbon dioxide on the central nervous system.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
4/28. A case report of an obesity hypoventilation syndrome associated with obstructive sleep apnea due to a carotid body paraganglioma.BACKGROUND AND PURPOSE: To the best of our knowledge, the association between an obstructive sleep apnea syndrome (OSAS) due to a neck mass and an obesity hypoventilation syndrome (OHS) has not been reported. patients AND methods: We report the case of a patient with obesity hypoventilation syndrome (OHS) in whom OSAS caused by a carotid body paraganglioma contributed to recurrent bouts of severe alveolar hypoventilation. RESULTS AND CONCLUSIONS: The complete surgical excision of the paraganglioma resulted in the cure of the OSAS and contributed to a clear improvement of the clinical symptoms of OHS.- - - - - - - - - - ranking = 1keywords = alveolar (Clic here for more details about this article) |
5/28. Non-invasive ventilation corrects alveolar hypoventilation during spinal anesthesia.PURPOSE: To document and explain the beneficial effects of non-invasive ventilation in correcting hypoxemia and hypoventilation in severe chronic obstructive pulmonary disease, during spinal anesthesia in the lithotomy position. CLINICAL FEATURES: A morbidly obese patient with severe chronic obstructive pulmonary disease underwent prostate surgery in the lithotomy position under spinal anesthesia. Hypoxemia was encountered during surgery, and a profound decrease of forced vital capacity associated with alveolar hypoventilation and ventilation/perfusion mismatching were observed. In the operating room, an M-mode sonographic study of the right diaphragm was performed, which confirmed that after spinal anesthesia and assuming the lithotomy position, there was a large decrease (-30%) in diaphragmatic excursion. Hypoxemia and alveolar hypoventilation were successfully treated with non-invasive positive pressure ventilation. CONCLUSIONS: Intraoperative application of non-invasive positive pressure ventilation improved diaphragmatic excursion and overall respiratory function, and reduced clinical discomfort in this patient.- - - - - - - - - - ranking = 6keywords = alveolar (Clic here for more details about this article) |
6/28. Alveolar hypoventilation and hyperosmnia in myotonic dystrophy.A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the appearance of clinical signs of the muscular disease by many years and persisted even after treatment when the blood gas analysis values were greatly improved. During both diurnal and nocturnal sleep, the patient frequently fell asleep directly into a REM stage. The possibility is discussed that, concomitant with the respiratory musculature involvement, there is an alteration in the central nervous system in myotonic dystrophy which is at least partially responsible for both the alveolar hypoventilation and the hypersomnia.- - - - - - - - - - ranking = 3keywords = alveolar (Clic here for more details about this article) |
7/28. Successful diaphragmatic pacing for idiopathic alveolar hypoventilation.We describe the case of a 17-year-old woman noted to have idiopathic alveolar hypoventilation, with multiple intensive care Unit (ICU) admissions because of acute respiratory failure (ARF) due to respiratory infections. After two years of diaphragmatic pacing arterial blood gases have substantially improved, without obstructive apnoea. Signs of right ventricular enlargement and pulmonary hypertension have decreased. Morning headache and diurnal somnolence have disappeared, and she is also able to perform more physical and mental activity, allowing her to enjoy a better quality of life.- - - - - - - - - - ranking = 5keywords = alveolar (Clic here for more details about this article) |
8/28. Primary alveolar hypoventilation treated with nocturnal electrophrenic respiration.A case of primary alveolar hypoventilation is described. Despite characteristic clinical findings, the diagnosis was delayed for 4 years. Alleviation of nocturnal hypoxemia and hypercapnia initially by a rocking bed and subsequently by phrenic nerve stimulation was accompanied by reversal of cor pulmonale and polycythemia. Electrophrenic respiration is an effective form of long-term management in primary alveolar hypoventilation.- - - - - - - - - - ranking = 6keywords = alveolar (Clic here for more details about this article) |
9/28. Management of chronic alveolar hypoventilation with nasal positive pressure breathing.Negative pressure ventilation is the most common method of providing assisted ventilation without a tracheostomy. Unfortunately, negative pressure devices have several disadvantages and are not well tolerated by all patients. We present a patient in whom intermittent assisted ventilation was applied successfully by using a nasal mask to provide positive pressure ventilatory support.- - - - - - - - - - ranking = 4keywords = alveolar (Clic here for more details about this article) |
10/28. lung function in diaphragm pacing.electric stimulation of the diaphragm via the phrenic nerve to induce ventilation has recently been used for the long-term management of chronic ventilatory insufficiency. Since 1973 three patients with inadequate alveolar ventilation have been treated with diaphragm pacing at the Toronto Western Hospital. Two, who had quadriplegia due to lesions of the spinal cord in the upper cervical region and a severe restrictive ventilatory defect, were treated with continuous diaphragm pacing. The third patient required assisted nocturnal ventilation because of primary alveolar hypoventilation. All three patients tolerated the diaphragm pacing well, and pulmonary function tests showed satisfactory gas exchange with the patients breathing room air. This form of therapy seems to be a practical clinical method of managing chronic ventilatory failure in patients with lesions of the upper cervical cord or primary alveolar hypoventilation.- - - - - - - - - - ranking = 3keywords = alveolar (Clic here for more details about this article) |
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