Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
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Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi · Jan 1996
Case ReportsOculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
We report a 10-month-old male infant with Type 2 Gaucher's disease. In addition to gradual arrest of neurological development, laryngospasm, opisthotonus, and limb rigidity, he presented characteristic oculomotor apraxia. History taking revealed that he had had abnormal horizontal gaze and had to turn his head to follow an object instead of moving the eyes alone. ⋯ To our knowledge, the T1448C gene frequency of Chinese Gaucher's disease is high. Thus, the ARMS screening method is applicable for further genetic diagnosis of Chinese Gaucher patients. Finally, this successful genetic diagnosis makes it possible in the future to perform prenatal diagnosis.
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Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi · Sep 1995
Hypothermia and sepsis: the major causes of mortality in gastroschisis.
From 1984 to 1993, 25 neonates with gastroschisis were treated at Chianghua Christian Hospital (CCH). Twenty-one patients were outborn, and only four were inborn babies. Eighteen patients were treated by primary fascial closure of the abdominal wall defect and seven, by the silastic sac technique. ⋯ Six patients (24%) developed sepsis and only one survived. Metabolic acidosis related to hypothermia and sepsis were the major causes of death in this study (P values of 0.024 and 0.01 respectively). It is no doubt that an experienced pediatrician is essential for immediate neonatal care to prevent unnecessary insults.
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Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi · Jan 1994
Case ReportsAdult respiratory distress syndrome in full term neonates.
From July 1987 to October 1991, we experienced 10 full-term newborn infants with severe adult respiratory distress syndrome (ARDS). The triggering events were intrauterine/perinatal asphyxia in 6 and sepsis in 4. All had severe respiratory distress/failure and were mechanically ventilated with high concentration of inspired oxygen and positive end-expiratory pressure. ⋯ Only 3 cases survived, all belonging to the asphyxia group. Of these 3 survivors, 1 developed bronchopulmonary dysplasia, 1 had cerebral palsy on follow up and the other one was lost on follow up. The outcome of neonatal ARDS was generally poor.
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Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi · May 1993
Case Reports[Bronchopleural fistula in a newborn: report of one case].
Persistent pneumothorax is infrequently seen in the neonate. Persistent pneumothorax with a large air leak and empyema may indicate the presence of a bronchopleural fistula which often results in mortality in infants requiring ventilator support. A ten-day-old female neonate with meconium aspiration syndrome was found to have respiratory distress after birth. ⋯ She was able to be discharged in good condition six weeks later. In management of the bronchopleural fistula, bronchial balloon occlusion enabled the patient to be maintained until more specific therapy could be attempted. Thoracotomy is definite therapy for selected infants requiring ventilator support who demonstrate a large air leak, persistent pneumothorax, and progressive hypoxia which is unresponsive to chest tube insertion.