共查询到20条相似文献,搜索用时 15 毫秒
1.
McPherson E Huff D Dunn J Muenke M 《Birth defects research. Part A, Clinical and molecular teratology》2004,70(8):537-544
BACKGROUND: Severe anomalies of the forebrain together with radial limb anomalies have been reported in Steinfeld syndrome, XK aprosencephaly, and partial monosomy 13q. Steinfeld syndrome is an extremely variable autosomal dominant condition that, in severe cases, is characterized by holoprosencephaly, radial limb defects, and renal and/or cardiac defects. In mild cases there may be only thumb hypoplasia, ocular coloboma, or oral clefts. XK aprosencephaly, also called Garcia-Lurie syndrome (GLS), is a usually sporadic disorder with radial limb defects and aprosencephaly/atelencephaly. Based on two atypical sibships, autosomal recessive inheritance has been suggested. Two patients with variations of monosomy 13q have been described with atelencephaly but, generally, Steinfeld and XK aprosencephaly patients are chromosomally normal. Holoprosencephaly in 13q deletion patients appears to be due to ZIC2 mutations, but ZIC2 has not been previously tested in Steinfeld syndrome or GLS patients. CASES: We report three sporadic cases with clinical features intermediate between Steinfeld and GLS, including severe forebrain malformations and radial limb defects. All had normal karyotypes, and mutations in ZIC2 were absent in the two cases tested. CONCLUSIONS: In our cases and in the literature there is significant clinical overlap between Steinfeld syndrome and GLS. We propose these conditions may not be nosologically or etiologically distinct. The spectrum of severe forebrain anomalies in these conditions is broader than previously thought and may include some neural tube defects. Mild cases are difficult to identify and the full range of expression remains unknown. Autosomal dominant inheritance with incomplete penetrance and frequent new mutations is postulated. Thorough clinical evaluation is recommended for children with severe forebrain and radial limb defects. 相似文献
2.
Yizhou Jiang Limor Rubin Tangming Peng Linlin Liu Xingan Xing Philip Lazarovici Wenhua Zheng 《International journal of biological sciences》2022,18(2):459
The COVID-19 outbreak is emerging as a significant public health challenge. Excessive production of proinflammatory cytokines, also known as cytokine storm, is a severe clinical syndrome known to develop as a complication of infectious or inflammatory diseases. Clinical evidence suggests that the occurrence of cytokine storm in severe acute respiratory syndrome secondary to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is closely associated with the rapid deterioration and high mortality of severe cases. In this review, we aim to summarize the mechanism of SARS-CoV-2 infection and the subsequent immunological events related to excessive cytokine production and inflammatory responses associated with ACE2-AngII signaling. An overview of the diagnosis and an update on current therapeutic regimens and vaccinations is also provided. 相似文献
3.
The authors report three cases of a new syndrome which characteristic anomalies are facial dysmorphism with anteverted nose, down slanting palpebral fissures, ptosis, severe microretrognatia, polydactyly. The authors insist on the particular severe genital anomalies, the failure to thrive and the constant lethal issue. The authors discuss the diagnosis of Smith-Lemli-Opitz syndrome and suggest the possibility of a new entity always confounded with others associations characterized by a polydactyly and a sexual reversion in male. 相似文献
4.
Langlois PH Scheuerle A 《Birth defects research. Part A, Clinical and molecular teratology》2007,79(11):798-805
BACKGROUND: Some birth defects appear to be more susceptible than others to artifactual prevalence variability over time or geographically. This article uses an empirical approach to try to identify them. METHODS: Assumption: Variation in clinical practice and other artifactual sources of variability impact observed variation in prevalence of mild cases more than severe cases for a given birth defect. Approach: Data were examined from Texas Birth Defects Registry deliveries from 1999-2003. For each of 312 delivery hospitals, birth prevalence for mild cases was calculated for birth defect X. The 5(th) percentile was subtracted from the 95(th) percentile to measure spread in the frequency distribution of all hospitals. That was repeated for severe cases. The ratio of the mild:severe spread was calculated for 49 defects, and the defects ranked into quintiles. That was repeated using birth prevalence based on county, and using isolated cases. The percentages of severe cases were calculated and also ranked into quintiles. A sensitivity analysis and simulation were conducted. RESULTS: Forty-nine birth defects were ranked from those least susceptible to differences in mild:severe prevalence variability (e.g., anencephaly, hypoplastic left heart syndrome) to most susceptible (e.g., atrial septal defect, fetal alcohol syndrome). Resulting quintile ranks based on the three measures were highly correlated, whether based on all cases or isolated cases. CONCLUSIONS: This empirical approach may be helpful for a number of public health applications. Birth defects and other health outcomes more susceptible to prevalence variability may be more likely to exhibit artifactual trends or clusters. 相似文献
5.
吉兰-巴雷综合征是自身免疫介导的周围神经病,主要的病理改变是周围神经组织小血管淋巴细胞、巨噬细胞浸润,神经纤维脱髓鞘,严重病例可继发轴索损害。吉兰—巴雷综合征的发生是由于易感人群感染病原菌后,机体针对病原菌抗原成分产生相应抗体,该抗体与人体神经节苷脂发生交叉免疫反应;同时在多种细胞因子的协同作用下,影响神经传导功能,最终产生不同程度的髓鞘脱失,严重者可导致轴索变性。空肠弯曲菌是其中最常见的病原菌,本文就吉兰—巴雷综合征与空肠弯曲菌感染的关系予以综述。 相似文献
6.
Schorderet DF Addor MC Maeder P Roulet E Junier L 《Genetic counseling (Geneva, Switzerland)》2002,13(4):441-447
Two brothers with a combination of atypical syndactylies, cerebellar atrophy and severe mental retardation are described. These cases share important features with the group of craniodigital syndromes and could represent new occurrences of Filippi syndrome. Cerebellar atrophy may represent a yet unreported finding in this syndrome. 相似文献
7.
Skórka A Bielicka-Cymermann J Gieruszczak-Białek D Korniszewski L 《Genetic counseling (Geneva, Switzerland)》2005,16(4):377-382
The thrombocytopenia-absent radius (TAR) syndrome (MIM 274000) is a congenital malformation syndrome characterised by bilateral absence of the radii with present thumbs, hypomegakaryocytic thrombocytopenia and a number of additional features including skeletal and cardiac anomalies. Mental retardation, reported in about 7% of patients, is usually secondary to intracranial hemorrhage. In 1994 there was a single report of a girl with TAR syndrome and hypoplasia of the cerebellar vermis and corpus callosum and in 2003 another case of TAR syndrome with cerebellar dysgenesis has been reported. In 2000 there was first report of horseshoe kidney in association with TAR syndrome followed by a clinical study of 34 cases with TAR syndrome in 2002 where horseshoe kidney was noted in two cases. Here we report of a girl with TAR syndrome, severe mental retardation, agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. There is no previous report of a child with TAR syndrome and all those associated anomalies in the same patient. 相似文献
8.
The majority of abnormal sex chromosome complexes in the male have been considered to be variants of Klinefelter''s syndrome but an exception should probably be made in the case of the XXXXY individual who has distinctive phenotypic features. Clinical, radiological and cytological data on three new cases of XXXXY syndrome are presented and 30 cases from the literature are reviewed. In many cases the published clinical and radiological data were supplemented and re-evaluated. Mental retardation, usually severe, was present in all cases. Typical facies was observed in many; clinodactyly of the fifth finger was seen in nearly all.Radiological examination revealed abnormalities in the elbows and wrists in all the 19 personally evaluated cases, and other skeletal anomalies were very frequent. Cryptorchism is very common and absence of Leydig''s cells may differentiate the XXXXY chromosome anomaly from polysomic variants of Klinefelter''s syndrome. The relationship of this syndrome to Klinefelter''s syndrome and to Down''s syndrome is discussed. 相似文献
9.
In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder. 相似文献
10.
Larsen syndrome associated with severe congenital hydrocephalus: Larsen syndrome (LS) is characterized by the association of flattened facies with a prominent forehead, a depressed nasal bridge and hypertelorism, dislocation of hips, elbows and knees, equinovarus or valgus deformities of the feet, long and tapering fingers, normal intelligence. Hydrocephalus has rarely been reported in association with LS. In this article, a newborn infant with the classical features of LS and severe congenital hydrocephalus is presented. Our purpose was to emphasize the importance of congenital hydrocephalus in infants with LS and to highlight the management of cases of LS associated with congenital hydrocephalus. 相似文献
11.
Triamcinolone acetonide (TAC) was administered to pregnant macaques (Macaca mulatta [15] and M. radiata [7]) during gestational days (GD) 23 to 41 using various dosing schedules. A daily dose of 10 mg/kg is approximately equal to 100 x the human dose equivalent. The brains of the fetuses and infants were studied grossly and histologically. All cases displayed either the mild form of the TAC-induced syndrome (craniofacial dysmorphia, cranium bifidum occultum, meningocele, and mild distortion of the midbrain) or the more severe form (occipital encephalocele, hydrocephalus, severe distortion of the midbrain or midbrain "beaking," shunting of cerebrospinal fluid, and craniofacial malformations). The dysmorphology was dose-related, with severity increasing at higher doses or with increased numbers of treatments. Individual cases were assessed for the severity of the syndrome by comparison of like components between groups. The lesions observed were morphologically comparable to those described in spontaneous human cases; the TAC-induced occipital encephaloceles were associated with brainstem and cerebellar abnormalities, and, with the less severe form of the syndrome, brainstem abnormalities were occasionally present, with occipital meningoceles. Controversy exists concerning the significance and temporal development of the midbrain changes. However, the associated alteration in aqueduct conformation may have been responsible for functional compromise and ensuing hydrocephalus. 相似文献
12.
Seven patients with slight but definite proliferative changes in the glomeruli achieved complete remission of the nephrotic syndrome when treated with prednisone. The patterns of response and, in three cases, repeated relapse and response suggested that this was more than a coincidental spontaneous cure. A controlled trial of corticosteroids in patients with slight proliferative glomerulonephritis and severe nephrotic syndrome should be carried out to verify these results. 相似文献
13.
Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings
Roberts syndrome is a rare autosomal recessive genetic disorder (MIM 268300). It is characterized by pre and postnatal growth retardation, severe shortening of limbs with radial defects, oligodactyly and characteristic facial features. The present study reports 4 new cases of Roberts syndrome from 3 families presenting variable phenotypes. Patients were thoroughly investigated clinically and cytogenetically. By reviewing literature, we compared our cases to those previously reported. The rating severity system proposed by Van den Berg and Francke (30) was applied to correlate the phenotypic and cytogenetics changes. We observed more severe reduction defects in the upper limbs than in the lower limbs. While the main reduction defects in the upper limbs involved the thumb and radius ranging to phocomelia, absent or severely hypoplastic fibula was the main lower limb involvement. We emphasize this finding in the present investigation. Heterochromatin repulsion of chromosomes derived from Roberts syndrome patients is a characteristic cytogenetic abnormality. It was a constant finding in our studied patients demonstrated by DABI stain which supports the possibility that mutations in Roberts syndrome lie in centromere related proteins which may also play a role in body patterning. This was proved recently by Vega et al. (31). Application of the clinical rating score and its correlation with cytogenetic changes showed negative results. Cytogenetic studies in normal obligatory heterozygotes parents showed no changes. Phenotypic variability within the same family as well as between different families was observed. The ascertainment of 4 cases with Roberts syndrome from 3 Egyptian consanguineous families during one year in our department may indicate a high frequency of the Roberts syndrome allele among Egyptians. This confirms the need for molecular studies for early and accurate prenatal diagnosis to prevent such dramatic malformation syndrome. 相似文献
14.
Sarimski K 《Genetic counseling (Geneva, Switzerland)》2000,11(4):383-390
Developmental and behavioural phenotype in Noonan syndrome? Noonan syndrome is characteristic by facial dysmorphology, congenital heart defects, short stature, developmental retardation and severe early feeding disorders in many cases. Data from a postal survey on physical development, feeding difficulties, developmental problems and behavioural aspects in 26 children are reported. The findings suggest developmental and behavioural difficulties in 46 per cent, but do not support the notion of a behavioural phenotype specific to Noonan syndrome. Having to cope with early surgery, feeding, developmental and behavioural problems establishes a need for psychological counseling for families receiving a diagnosis of Noonan syndrome. 相似文献
15.
Belengeanu V Viskari H Tallila J Lahtela J Farcas S Andreescu N Stoian M Bohiltea CL Fryns JP 《Genetic counseling (Geneva, Switzerland)》2011,22(3):293-304
Hydrolethalus syndrome is a severe lethal disorder most commonly found in Finland. We present a lethal case of complex congenital malformation in a Romanian family who showed multiple signs described in hydrolethalus syndrome. Our case presented the specific characteristics: macrocephaly, midline cleft-lip, cleft palate, polydactyly of both hands and feet but without occipitoschisis, considered as the pathognomonic sign of the syndrome. Sequencing analysis of HYLS1 did not identify the point mutation present in the Finnish cases or other mutations in this gene. 相似文献
16.
Kosho T Matsushima K Sahashi T Mitsui N Fukushima Y Sobajima H Ohashi H 《Genetic counseling (Geneva, Switzerland)》2005,16(1):65-70
"Ring syndrome" is described as those cases with complete ring chromosomes showing, independently of the chromosome involved, severe growth failure, minor dysmorphic features, and mild-to-moderate mental retardation, without major malformations. We present a girl with ring 2 chromosome, exhibiting severe growth failure, minor dysmorphic features, spontaneously closed ventricular septum defect, and normal development. G-banding chromosome analysis and fluorescence in situ hybridization (FISH) analysis using chromosome-specific subtelomeric probes (2ptel, 2qtel) demonstrated the major karyotype as 46,XX,r(2)(p25.3q37.3).ish r(2)(2ptel+,2qtel+). We review the cases with "ring syndrome" confirmed by FISH using chromosome-specific subtelomeric probes, suggesting that this method might be useful to predict developmental prognosis in a case with an apparently complete ring chromosome. 相似文献
17.
A J Howat M J Bennett S Variend L Shaw P C Engel 《BMJ (Clinical research ed.)》1985,290(6484):1771-1773
Two hundred consecutive cases of the sudden infant death syndrome were reviewed for the presence of fat in the liver; 14 showed diffuse panlobular microvesicular fatty change indistinguishable from that found in Reye''s syndrome. Samples of frozen liver were available in five of the 14 cases; histochemical analysis showed well preserved cytochrome oxidase and succinate dehydrogenase activity in all five, uncharacteristic of Reye''s syndrome. Fatty acyl-coenzyme A dehydrogenase activity in the liver was assayed biochemically in two of the same five cases with severe hepatic fatty infiltration; both showed a defect in medium chain acyl-coenzyme A dehydrogenase activity using the substrate octanoyl-coenzyme A. Both cases also showed cerebral oedema in association with fatty infiltration of renal tubules, myocardium, and skeletal muscle, characteristic of Reye''s syndrome. It is concluded that diffuse panlobular microvesicular fatty change of the liver in victims of the sudden infant death syndrome, although essentially non-specific, indicates that the state of mitochondrial enzymes should be investigated. 相似文献
18.
目的:探讨分析盐酸戊乙奎醚在急性有机磷中毒重度中间综合症治疗中的效果。方法:选取急性有机磷中毒并发重度中间综合症患者34例,依治疗方案分为对照组和观察组,各17例。2组患者基础治疗相同,对照组给予氯解磷定+阿托品+机械通气治疗;观察组采用氯解磷定+盐酸戊乙奎醚+机械通气治疗。观察比较2组患者肌无力症状消失时间、机械通气时间以及住院时间。结果:观察组患者肌无力症状消失时间、机械通气时间以及住院时间均明显低于对照组,经比较,差异均有统计学意义(P0.01)。结论:盐酸戊乙奎醚可快速有效缓解急性有机磷中毒重度中间综合症患者的临床症状,显著缩短病程。 相似文献
19.
Kubota T Wakui K Nakamura T Ohashi H Watanabe Y Yoshino M Kida T Okamoto N Matsumura M Muroya K Ogata T Goto Y Fukushima Y 《Cytogenetic and genome research》2002,99(1-4):276-284
Turner syndrome females (45,X) do not have mental retardation (MR), whereas some mosaic ring X Turner syndrome females, with 45,X/46,X,r(X), have severe MR. The MR is believed to be caused by a failure of X chromosome inactivation (XCI) of the small ring X chromosome, which leads to functional X disomy (FXD), To explore this hypothesis, we examined the proportion of FXD cells in the peripheral blood of four ring X Turner syndrome females with various levels of MR, using two newly developed XCI assays based on DNA methylation of X-linked genes. As a result, the two patients with extremely severe MR showed complete FXD patterns, whereas the remaining two patients with relatively milder MR showed partial FXD patterns. These results indicate that the proportion of FXD cells may be associated with the severity of MR in mosaic ring X Turner syndrome females, although this association should be confirmed by examining brain cells during development. One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case. 相似文献
20.
目的:分析重型颅脑损伤后并发多器官功能障碍综合征的临床特点。方法:对42例重型颅脑损伤后并发多器官功能障碍病例进行回顾性分析总结。结果:42例共有106个器官功能障碍,其中肺32例,肾30例,胃肠17例。手术治疗30例,保守治疗12例;死亡28例,植物生存1例,病死率66.7%,所有死亡病例均合并肺及/或肾功能不全,30例合并肾功能不全患者仅2例存活。结论:重型颅脑损伤后并发多器官功能障碍是一个治疗困难、预后恶劣的综合征,及时预测并重点保护肺肾功能障碍器官和有效的预防是降低该病发生率和病死率的重要措施。 相似文献