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11. |
A mother and daughter with agenesis of the corpus callosum |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 52-56
TATSUO FUCHIGAMI,
RYOSUKE MAZAKI,
ATSUSHI NISHIMURA,
YUKIO NOGUCHI,
SACHIKO FUCHIGAMI,
YUKIHIKO FUJITA,
OSAMI OKUBO,
KENSUKE HARADA,
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摘要:
AbstractA mother and daughter with agenesis of the corpus callosum are reported. There have only been 11 prior case reports of the familial occurrence of agenesis of the corpus callosum in the absence of extracranial malformations. Most of these reports have described familial occurrence among siblings. The present communication is only the second description of a parent and child with agenesis of the corpus callosum A review of the published cases of familial syndrome unrelated agenesis of the corpus callosum indicates that both mental, developmental and neurologic disorders in cases involving parent and child are milder than those in cases involving siblings. Of additional interest, electroencephalography performed in this patient during sleep, frequently revealed bilateral asynchronous sleep spindles, supporting the hypothesis of previous investigators that the synchronicity of sleep spindles requires intact intercerebral commissures.
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03435.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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12. |
Periventricular leukomalacia associated with hypocarbia |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 57-60
MASAYA KUBOTA,
FUMIKO MATSUDA,
MINORU HASHIZUME,
TOSHIHIKO NAKAMURA,
AKIRA NISHIDA,
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摘要:
AbstractWe here report a case of periventricular leukomalacia (PVL) associated with hypocarbia which remained even after extubation. The patient had no risk factors affecting PVL development other than hypocarbia. We consider that the irregular tachypnea which remained after extubation might be attributable to overdriving of ventilation of central neurogenic origin. Our patient's clinical course suggests that sodium bicarbonate drip infusion is a very effective way to alter the set point of respiratory neuronal drive of the patient with central neurogenic hyperventilation.
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03436.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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13. |
Pericardial hydatid cyst with a fatal course |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 61-62
NAZMI NARIN,
TIMUR MEŞE,
NURETTIN ÜNAL,
SEMIH PINARLI,
ŞÜKRÜ CANGAR,
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摘要:
AbstractCases with cardiac hydatid cyst disease are uncommon, being approximately 0.2–2% of all cases. Most cardiac hydatid cysts are located in the interventricular septum or left ventricular wall. Pericardial location is very rare. We report on a 12 year old girl with pericardial hydatid cyst disease who was otherwise asymptomatic, having no cardiac symptomatology. Unfortunately the course of her disease was fatal. This is the first report of uncommon localized hydatid disease with a fatal outcom
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03437.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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14. |
Interruption of aortic arch type A in two siblings |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 63-65
TOSHIMASA NAKADA,
SUSUMU YONESAKA,
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摘要:
AbstractThe recurrence of interruption of aortic arch (IAA) in siblings is rare. According to previous reports concerning siblings with IAA, all cases were IAA type B according to the classification proposed by Celoria and Patton. In this report we present the first cases of brothers with IAA type A. The type of IAA was confirmed by autopsy findings in the elder brother and by operative findings in the younger brother. The etiology of IAA was unclear. Monogenic inheritance was thought unlikely because congenital heart disease was not recognized in other members of the family. It would seem prudent to separate recurrence risks for IAA type A from IAA type B when genetic counselling is provided, but it must be borne in mind that the recurrence of IAA type A can occur among siblings.
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03438.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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15. |
A case of Kabuki make‐up syndrome with EBV+ Burkitt's lymphoma |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 66-68
OSAMU IJICHI,
KIYOSHI KAWAKAMI,
YUKIHISA MATSUDA,
NAOAKI IKARIMOTO,
KOICHIRO MIYATA,
HIDEO TAKAMATSU,
MASAYOSHI TOKUNAGA,
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摘要:
AbstractKabuki make‐up syndrome was first reported in 1981 and is characterized by peculiar facies with post natal growth deficiency and mental retardation. Since the first report, approximately 100 cases have been reported, but there have been no reports of tumor development. A case is reported of a patient with Kabuki make‐up syndrome who developed malignant lymphoma in his abdomen at the age of 3 years. The tumor was histologically diagnosed as Burkitt's lymphoma and Epstein‐Barr virus was detected byin situhybridiz
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03439.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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16. |
Segmental dilatation of the jejunum |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 69-71
EROL MİR. ŞERAFETTİN YEGANE,
İRFAN KARACA,
CÜNEYT GÜNŞAR,
HALUK CEYLAN,
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摘要:
AbstractA 6 months old girl with segmental dilatation of the jejunum is described. Clinical findings were intermittent colic, severe pain and bilious vomiting, mimicking intussusception. At laparatomy dilated jejunal segment was encountered and resection performed. Histological examination showed normal ganglion cells with normal bowel structures. Postoperative course was uneventful.
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03440.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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17. |
Hypercalciuria in renal glucosuria |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 72-74
SALIH KAVUKÇU,
MEHMET TÜRKMEN,
NEVIN UZUNER,
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摘要:
AbstractPrimary renal glucosuria is a benign condition in which serum glucose level is normal. Idiopathic hypercalciuria is defined as increased urinary calcium excretion of more than 4 mg/kg/day in normocalcemic individuals in whom all known causes of hypercalciuria have been excluded. In this paper, we report on a case who has both renal glucosuria and hypercalciuria.
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03441.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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18. |
Noonan Syndrome |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 75-75
Masayoshi Yanagisawa,
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ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03442.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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19. |
Noonan syndrome: A clinical description emphasizing the cardiac findings |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 76-83
JACQUELINE NOONAN,
WILLIAM O'CONNOR,
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ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03443.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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20. |
Cardiovascular abnormalities in Noonan syndrome: The clinical findings and treatments |
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Pediatrics International,
Volume 38,
Issue 1,
1996,
Page 84-90
AKIRA ISHIZAWA,
SHIN‐ICHI OHO,
HIDEMI DODO,
TATSUO KATORI,
SHIN‐ICHIRO HOMMA,
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摘要:
AbstractThe clinical findings and treatment of cardiovascular abnormalities in 33 patients with Noonan syndrome are reviewed. Major cardiovascular abnormalities were pulmonary valvular stenosis in 17 patients (51.1%), hypertrophic cardiomyopathy (HCM) in 11 (33.3%), and atrial septal defect in 9 (27.3%). Dysplastic pulmonary valve was seen in 6 (35.3%). Balloon pulmonary valvuloplasty was performed for 4 patients with dysplastic pulmonary valves. Two patients were successfully treated. Surgical treatment was performed in 13 patients, 11 alive and 2 died. Two patients with HCM and arrhythmia died suddenly. In conclusion, balloon pulmonary valvuloplasty should be the initial palliation for dysplastic pulmonary valve in Noonan syndrome, and HCM is the risk factor for sudden death in Noonan syndrome.
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1996.tb03444.x
出版商:Blackwell Publishing Ltd
年代:1996
数据来源: WILEY
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