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81.
Kim HK Choi YH Ryu SM Kim HK Chae YS Sohn YS Kim HJ 《Journal of Korean medical science》2005,20(6):1070-1072
Infradiaphragmatic extralobar pulmonary sequestration is an extremely rare congenital malformation. It is more frequently diagnosed in the antenatal period due to routine ultrasonic examination of the fetus or in the first 6 months of life, though on rare occasions it is discovered incidentally in adults. A 32-yr-old man presenting with epigastric discomfort and fever was referred. Computed tomographic scanning showed that a 16-cm, multiseptated, dumbbell-shaped, huge cystic tumor was located beneath the diaphragm. On the next day, 850 mL of thick yellowish pus was drained by sonography-guided fine needle aspiration for the purpose of infection control and diagnosis, but no microscopic organisms were found in repeated culture studies. Surgical removal of the cyst was performed through thoracoabdominal incision and most of these pathologic lesions were removed but we could not find the feeding arteries or any fistulous tract to surrounding structures. Histopathologic study revealed that it was extralobar pulmonary sequestration and culture study showed that many WBC and necrotic materials were found but there were no microorganisms in the cystic contents. We report the first case of an infected infradiaphragmatic retroperitoneal extralobar sequestration which was administered a staged management and achieved an excellent clinical course. 相似文献
82.
Okamoto N Toribe Y Nakajima T Okinaga T Kurosawa K Nonaka I Shimokawa O Matsumoto N 《Journal of human genetics》2002,47(10):0556-0559
Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation,
and characteristic craniofacial dysmorphism. Muscle hypotonia and delayed motor development are almost constant features of
the syndrome. We report a 4-year-old Japanese girl with 1p36 deletion syndrome whose muscle pathology showed congenital fiber
type disproportion (CFTD) myopathy. This is the first case report of 1p36 deletion associated with CFTD. This association
may indicate that one of the CFTD loci is located at 1p36. Ski proto-oncogene −/− mice have phenotypes that resemble some of the features observed in patients with 1p36 deletion syndrome.
Because fluorescent in situ hybridization analysis revealed that the human SKI gene is deleted in our patient, some genes in 1p36, including SKI proto-oncogene, may be involved in muscle hypotonia and delayed motor development in this syndrome.
Received: March 4, 2002 / Accepted: July 7, 2002 相似文献
83.
D. Heuss A. Engelhardt H. Göbel B. Neundörfer H. Lochmüller 《Virchows Archiv : an international journal of pathology》1994,425(1):101-105
We report on the expression of growth associated protein (GAP)43 and neural cell adhesion molecule (NCAM) in congenital fibre type disproportion (CFTD) with myopathological additional signs of interstitial myositis. We assume that sarcolemmal GAP43 in developmental disordered myocytes plays a role in maintenance of growth morphology. In muscular dystrophy light microscopical evaluation reveals no GAP43 immunoreactivity in regenerating fibres. The expression of GAP43 seems to be a characteristic feature of CFTD. The expression of NCAM, particularly in the sarcolemma of small muscle fibres of CFTD, indicates a functional state of permanent partial denervation. Whether the steroid-responsive interstitial myositis is pathogenetically related to CFTD or a coincidental inflammation is not known. Because of the clinical and myopathological data the differential diagnosis of Emery-Dreifuss muscular dystrophy is considered. 相似文献
84.
Perrin C. White Maria-Teresa Tusie-Luna Maria I. New Phyllis W. Speiser 《Human mutation》1994,3(4):373-378
The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c2l) is a microsomal enzyme expressed in the adrenal gland that catalyzes conversion of 17-hydroxyprogesterone and progesterone to 11-deoxycortisol and deoxycorticosterone respectively. In man, this enzyme is encoded by the CYP21 (CYP21B) gene which is located in the HLA major histocompatibility complex along with a pseudogene, CYP21P (CYP21A). Mutations in CYP21 causing congenital adrenal hyperplasia are almost all generated by recombinations between CYP21 and CYP21P. These recombinations either delete CYP21 or transfer deleterious mutations from CYP21P to CYP21, a process termed apparent gene conversion. The degree of enzymatic compromise caused by each mutation is correlated with the clinical severity of the deficiency observed in patients carrying that mutation. © 1994 Wiley-Liss, Inc. 相似文献
85.
Philippe Moerman Jean-Pierre Fryns Herwig Van Dijck Joseph M. Lauweryns 《Virchows Archiv : an international journal of pathology》1985,408(1):43-48
Summary Two unrelated patients with severe arthrogryposis multiplex congenita (AMC) who died perinatally, are presented. In both, postmortem examination revealed an intact nervous system and striking dystrophic muscle changes, consistent with congenital muscular dystrophy (CMD). Few similar cases have been reported before, but since the condition is not well known, it seems probable that in the past many have been labeled as mere multiple malformations. The possibility of an underlying muscular disorder, either primary myopathic or neurogenic should be considered in any patient with early lethal AMC. Our findings confirm that the fetal akinesia-arthrogryposis sequence is a nonspecific clinical syndrome resulting from various causes of muscular inactivity in utero. The main objective of this report is to provide reasonable guidelines on how to approach the problem of classification. We favor a pathogenetic approach, depending upon careful sampling of the central nervous system and skeletal muscles at autopsy. 相似文献
86.
87.
目的探讨脐带穿刺在胎儿先天性心脏病诊疗中的应用价值。方法对34例行脐带穿刺的胎儿先天性心脏病例进行回顾性分析。结果34例均穿刺成功,未发生严重并发症。检出染色体异常6例,宫内巨细胞病毒感染1例。结论脐带穿刺术是一种安全有效改善妊娠结局的产前诊疗技术。 相似文献
88.
Theodore G. Drivas Jesse A. Taylor Elaine H. Zackai 《American journal of medical genetics. Part A》2019,179(6):1063-1068
We evaluated a newborn with acrofacial dysostosis in whom a clinical diagnosis of Nager syndrome was entertained. Radiographs revealed hypoplasia of the scapulae and bilateral humeroradial synostosis, with absent ulna on the left and hypoplastic ulna on the right. The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses. Humeroradial synostosis has been found in three cases of acrofacial dysostosis Rodriguez type, a syndrome characterized by mandibular hypoplasia, upper and lower extremity phocomelia, and oligodactyly of the upper limbs. More recently, haploinsufficiency of the SF3B4 gene has been identified as the cause of both Nager and Rodriguez syndrome, leading many to believe that Rodriguez syndrome represents a more severe end of a Nager syndrome spectrum. An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. Rodriguez syndrome was previously thought of as a lethal acrofacial dysostosis distinct from Nager syndrome. A number of more mild cases, as well as our case, intermediate between the two phenotypes, illustrate that Rodriguez syndrome is a severe manifestation of Nager syndrome, and is not lethal with aggressive medical care. 相似文献
89.
为了解先天性肾上腺皮质增生症患者的21-羟化酶CYP21B基因中Ile~(172)→Asn错义突变的发生率,根据放大受阻突变体系(Amplificationrefractorymutationsystem,ARMS)的要求,设计了3种引物:5'd(TTGGGAGACTACTCCCTGCTCT)3'(共同引物)、5'd(AGGTGAGGTAACAGA)3'(正常引物)、5'd(AGGTGAGGTAACAGT)3'(突变引物),在7例患儿中进行了检测,发现具有本突变者3例。对其中一例进行的家系分析,结果提示:这组引物有快速、简便的优点,不需使用同位素就能对具有Ile~(172)→Asn变异的高危家庭成员作产前诊断。 相似文献
90.
大连地区35068例围产儿中先天性心脏病的调查 总被引:1,自引:1,他引:1
目的为了解我院围产儿先天性心脏病发病情况.方法对2000年1月~2003年12月大连市妇幼保健院分娩的围产儿35068例进行前瞻性调查.结果查出先心病487例,其中彩色多普勒超声心动图诊断467例,尸检确诊20例.发病率13.9‰.以单纯性室间隔缺损(VSD)20.95%和房间隔缺损(ASD)18.07%居多,其中又以.膜部VSD和Ⅱ孔型ASD最多.复合型畸形占41.68%,以ASD VSD(12.73%)居多.出生~7d发生心力衰竭59例.围产儿死亡52例,死亡率1.48‰,占1岁以内先心病死亡总数的67.53%.以青紫型复杂畸形为主.结论先心病的发生与母亲早期呼吸道病毒感染有关(χ2=20.98,P<0.01,相对危险度5.99).PDA的发生与早产儿密切相关(χ2=29.1,P<0.01,相对危险度5.01). 相似文献