共查询到20条相似文献,搜索用时 15 毫秒
1.
2.
Isidor B Poignant S Picherot G Mégabarné A Quartier P Bader-Meunier B Le Caignec C Le Merrer M Baujat G Cormier-Daire V David A 《American journal of medical genetics. Part A》2012,(7):1754-1758
Juvenile idiopathic arthritis is an inflammatory disease with various onset-forms which can sometimes be difficult to distinguish from genetic inflammatory/rheumatoid-like osteoarthropathies. In this report, we describe two boys with severe chronic arthralgia, stiffness and swelling of joints, motor weakness and joints contractures evolving despite immunosuppressive treatments and for whom all biological and molecular exams failed to identify a prompt diagnosis. Some findings also overlap with pseudorheumatoid dysplasia but WISP3 gene molecular analysis failed to identify any mutation for both patients. Therefore, we propose that these boys show a clinical entity distinct from the actually known genetic inflammatory/rheumatoid-like osteoarthropathies. 相似文献
3.
DNA microsatellite instability in hyperplastic polyps,serrated adenomas,and mixed polyps: a mild mutator pathway for colorectal cancer? 总被引:24,自引:0,他引:24
下载免费PDF全文
![点击此处可从《Journal of clinical pathology》网站下载免费的PDF全文](/ch/ext_images/free.gif)
H Iino J R Jass L A Simms J Young B Leggett Y Ajioka H Watanabe 《Journal of clinical pathology》1999,52(1):5-9
AIM: To investigate the distribution of DNA microsatellite instability (MSI) in a series of hyperplastic polyps, serrated adenomas, and mixed polyps of the colorectum. METHODS: DNA was extracted from samples of 73 colorectal polyps comprising tubular adenomas (23), hyperplastic polyps (21), serrated adenomas (17), and mixed polyps (12). The presence of MSI was investigated at six loci: MYCL, D2S123, F13B, BAT-40, BAT-26, and c-myb T22, using polymerase chain reaction based methodology. MSI cases were classified as MSI-Low (MSI-L) and MSI-High (MSI-H), based on the number of affected loci. RESULTS: The frequency of MSI increased in tubular adenomas (13%), hyperplastic polyps (29%), serrated adenomas (53%), and mixed polyps (83%) (Wilcoxon rank sum statistic, p < 0.001). Hyperplastic epithelium was present in nine of 12 mixed polyps and showed MSI in eight of these. MSI was mostly MSI-L. MSI-H occurred in two serrated adenomas and three mixed polyps. Clonal relations were demonstrated between hyperplastic and dysplastic epithelium in four of eight informative mixed polyps. CONCLUSIONS: The findings support the view that hyperplastic polyps may be fundamentally neoplastic rather than hyperplastic. A proportion of hyperplastic polyps may serve as a precursor of a subset (10%) of colorectal cancers showing the MSI-L phenotype, albeit through the intermediate step of serrated dysplasia. This represents a novel and distinct morphogenetic pathway for colorectal cancer. 相似文献
4.
Xu HT Li QC Dai SD Xie XM Liu DI Wang EH 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2011,119(11):750-758
Xu H‐T, Li Q‐C, Dai S‐D, Xie X‐M, Liu D, Wang E‐H. The expression patterns and correlations of chibby, β‐catenin, and DNA methyltransferase‐1 and their clinicopathological significance in lung cancers. APMIS 2011; 119: 750–8. Chibby is an inhibitor of the Wnt pathway. The expression and correlation of chibby in lung cancers is unclear. We considered that the expression pattern of chibby might be related to the expression of β‐catenin and DNA methyltransferase‐1 (DNMT1). We examined the expressions of chibby, β‐catenin, and DNMT1 in 85 lung cancer tissues and corresponding normal lung tissues using immunohistochemistry. The nuclear expression rate of chibby was reduced in lung cancers (p < 0.001). Increased expression of DNMT1 was correlated with the differentiation (p = 0.034) and TNM stage (p = 0.048). The cytoplasmic expression of β‐catenin was correlated with poor differentiation of lung cancers (p = 0.016). The cytoplasmic and membrane expression of chibby was positively correlated with the cytoplasmic (p = 0.025) and membrane (p = 0.029) expressions of β‐catenin. The membrane expression of chibby was negatively correlated with the expression of DNMT1 (p = 0.006). Moreover, the expression of DNMT1 was correlated with the cytoplasmic expression of β‐catenin (p < 0.001). The nuclear expression of chibby is reduced in lung cancers. Chibby may colocalize with β‐catenin. β‐Catenin and DNMT1 may be concurrently expressed and thereby promote the development of lung cancers. 相似文献
5.
A Spaepen C Schrander-Stumpel J P Fryns C de Die-Smulders M Borghgraef H Van den Berghe 《American journal of medical genetics》1991,41(4):517-520
We describe 3 young children with Hallermann-Streiff syndrome, 2 with typical manifestations and 1 with the facial changes without the eye abnormalities but with a cleft palate and with complete syndactyly of fingers IV and V. The latter case represents overlap of the Hallermann-Streiff syndrome and oculodentodigital dysplasia. "Dwarfism" as a possible clinical risk marker of mental retardation is discussed. As cause, a mendelian autosomal dominant mutation seems most probable. 相似文献
6.
Sevim Balc Sevin Bostanolu Gülin Altnok Fatih
zaltn 《American journal of medical genetics. Part A》1999,82(2):166-169
We describe two sib fetuses with situs inversus, cystic dysplastic kidney and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation (IUGR), and oligohydramnios. Early prenatal diagnosis of pancreatic and dysplastic renal cysts and situs inversus totalis were made in the 18-week-old fetus. This syndrome differs from that of Ivemark and related syndromes because of the presence of situs inversus totalis and absence of hepatic fibrosis and cysts. The parents were first cousins, and did not have any cysts of kidney, liver, or pancreas detected by ultrasonography. Am. J. Med. Genet. 82:166–169, 1999. © 1999 Wiley-Liss, Inc. 相似文献
7.
Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5-week-old fetus. The last case supports the genetic hypothesis. 相似文献
8.
The ectodermal dysplasias (ED) are a large and complex group of diseases characterized by anomalies of the ectoderm and its derivates, often associated with malformations in other organs. We report a patient with an ectodermal dysplasia affecting hair, teeth, and nails and malformations of all four extremities including absence of several rays in the hands and feet. This patient shares many similarities with odontotrichomelic syndrome, a rare ectodermal dysplasia syndrome that has so far only been described in three individuals. However, some differences exist and this patient might also represent a separate ectodermal dysplasia syndrome. p63, a gene that is mutated in a number of syndromes associated with ectodermal dysplasia and limb malformations, was considered a possible candidate gene. However, no mutation in p63 was identified. 相似文献
9.
Adverse effects of maternal anxiety and depression are well documented, namely on the foetus/child behaviour and development,
but not as much attention has been given to the mother’s emotional involvement with the offspring. To study mother’s prenatal
and postpartum stress, mood and emotional involvement with the infant, the State-Trait Anxiety Inventory, the Edinburgh Postnatal
Depression Scale and the Mother-to-Infant Bonding Scale were filled in and cortisol levels were measured, 3 months before
and 3 months after childbirth, in a sample of 91 Portuguese women. From pregnancy to the postpartum period, mother’s cortisol
levels, anxiety and emotional involvement toward the child decrease. No significant change was observed regarding mother’s
depression. Mother’s depression predicted a worse emotional involvement before childbirth, while mother’s anxiety predicted
a worse emotional involvement with the infant after childbirth. Additionally, pregnant women with a worse emotional involvement
with the offspring are at risk of poorer emotional involvement with the infant and higher anxiety and depression at 3 months
postpartum. It should be given more attention to mother’s poor emotional involvement with the offspring during pregnancy,
as it interferes with her emotional involvement with the infant and her psychological adjustment 3 months after childbirth. 相似文献
10.
11.
12.
M.J. Alao D. Bonneau M. Holder-Espinasse C. Goizet S. Manouvrier-Hanu A. Mezel F. Petit D. Subtil C. Magdelaine D. Lacombe 《European journal of medical genetics》2010,53(1):19-22
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. The key features in this syndrome are microphthalmia, enamel hypoplasia and syndactyly of the 4th–5th fingers. ODDD is caused by mutations in the connexin 43 gene (GJA1). We report here four patients from three families with GJA1 mutations, one of them diagnosed prenatally. The three mutations (c.52T > C/p.Ser18Pro, c.689_690delTA/p.Tyr230CysfsX6, c.442C > G/p.Arg148Gly) have been reported once before. Two patients had white matter hypersignal anomalies, associated in one case with mental retardation, but asymptomatic in the other one, an observation that leads us to discuss systematic neuroradiological imaging for ODDD. One case has optic atrophy, another has hypospadias. The patient carrying a truncating mutation of Cx43 did not have palmoplantar keratoderma, in contradiction with the previously suggested genotype–phenotype correlation between truncating mutation and skin involvement. 相似文献
13.
14.
Two sibs with microcephaly,hygroma colli,renal dysplasia,and cutaneous syndactyly: a new lethal MCA syndrome?
下载免费PDF全文
![点击此处可从《Journal of medical genetics》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Janssen HC Schaap C Vandevijver N Moerman P de Die-Smulders CE Fryns JP 《Journal of medical genetics》1999,36(6):481-484
We report two sibs of Turkish descent with multiple congenital anomalies including severe microcephaly, hygroma colli, cystic renal dysplasia, and bilateral cutaneous syndactyly of toes IV-V. In addition, the second sib presented with bilateral fusion of the eyelids, a bicornuate uterus, and clitoromegaly. The parents are first cousins, which suggests autosomal recessive inheritance. In reviewing previously published reports, several cases were found with cerebral, renal, and digital anomalies as the main features. Several of the additional symptoms present in the second sib were suggestive of Fraser syndrome, but the severe microcephaly in both sibs is unusual. The differential diagnosis is discussed, including the possibility of an entirely new entity in the broad spectrum of syndromes with cerebral, renal, and digital anomalies. 相似文献
15.
Is reduced expression of mismatch repair genes MLH1 and MSH2 in patients with sporadic colorectal cancer related to their prognosis? 总被引:7,自引:0,他引:7
Kruschewski M Noske A Haier J Runkel N Anagnostopoulos Y Buhr HJ 《Clinical & experimental metastasis》2002,19(1):71-77
The majority of mutations in hereditary nonpolyposis colon carcinoma (HNPCC) patients affect the mismatch-repair genes (MMRG) MLH1 and MSH2. In addition, mutations of these genes were found in about 15% of sporadic colorectal carcinomas which appear to be related to microsatellite instability (MSI). However, mutations in MMRG were not found in all MSI-positive carcinomas, but MMRG mutations may be relevant for the assessment of tumor characteristics and patients’ prognosis. Therefore, we investigated the relationship between expression of MMRG, tumor biology and patients’ survival. In 127 patients with sporadic colorectal carcinomas and a minimum of 5 years follow-up after curative surgery immunohistochemical detection of MLH1 and MSH2 was analyzed semiquantitatively. Lost expression of MLH1 has been found in tumor specimens from 10 patients, whereas MSH2 expression was missing in 5 patients. This reduced expression did not correlate with tumor stage, lymph node involvement, grading or tumor invasion into blood vessels. However, a significant correlation was found for lymphovascular invasion (P=0.02) and localization within the colorectum (P=0.003) in MLH1-negative carcinomas. In addition, although there was a clear tendency for longer overall survival (72 vs. 63 months) for patients with MLH1-negative carcinomas, significant differences for overall and recurrence-free survival were not seen. In conclusion of our results and a critical review of literature, the prognostic importance of the MMR genes in sporadic colorectal carcinomas remains controversial. 相似文献
16.
17.
18.
Y Indo 《Clinical genetics》2012,82(4):341-350
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder characterized by insensitivity to pain, anhidrosis (the inability to sweat) and mental retardation. Nerve growth factor (NGF) is a well-known neurotrophic factor essential for the survival and maintenance of NGF-dependent neurons, including primary afferent neurons with thin fibers and sympathetic postganglionic neurons, during development. NGF is also considered to be an inflammatory mediator associated with pain, itch and inflammation in adults. CIPA results from loss-of-function mutations in the NTRK1 gene-encoding TrkA (tropomyosin-related kinase A), a receptor tyrosine kinase for NGF. Defects in NGF-TrkA signal transduction lead to the failure of survival of various NGF-dependent neurons. As a result, patients with CIPA lack NGF-dependent neurons. Recent studies have revealed that mutations in the NGFB gene-encoding NGF protein also cause congenital insensitivity to pain. Using the pathophysiology of CIPA as a foundation, this review investigates the ways in which NGF-dependent neurons contribute to interoception, homeostasis and emotional responses and, together with the brain, immune and endocrine systems, play crucial roles in pain, itch and inflammation. The NGF-TrkA system is essential for the establishment of neural networks for interoception, homeostasis and emotional responses. These networks mediate reciprocal communication between the brain and the body in humans. 相似文献
19.
Costa AF Tasso MG Mariano FV Soares AB Chone CT Crespo AN Fresno MF Llorente JL Suárez C de Araújo VC Hermsen M Altemani A 《Histopathology》2012,60(5):816-825
Costa A F, Tasso M G, Mariano F V, Soares A B, Chone C T, Crespo A N, Fresno M F, Llorente J L, Suárez C, de Araújo V C, Hermsen M & Altemani A (2012) Histopathology 60, 816–837 Levels and patterns of expression of hypoxia‐inducible factor‐1α, vascular endothelial growth factor, glucose transporter‐1 and CD105 in adenoid cystic carcinomas with high‐grade transformation Aims: To compare the expression of proteins regulated by hypoxia between adenoid cystic carcinoma (ACC) with and without high‐grade transformation (HGT). Methods and results: In eight ACC–HGT and 18 ACC without HGT, expression of hypoxia‐inducible factor‐1 (HIF‐1α), vascular endothelial growth factor (VEGF), glucose transporter‐1 (GLUT‐1) and microvascular density (MVD) by CD105 (a hypoxia‐inducible protein expressed in angiogenic endothelial cells) was determined. Expression levels of HIF‐1α and VEGF as well as CD105‐MVD did not differ significantly between: (i) transformed and conventional areas (TA and CA, respectively) of ACC–HGT, (ii) CA and ordinary ACC. HIF‐1α was detected in 100% of cases and presented a diffuse expression pattern. No significant association was found between levels of HIF‐1α expression and tumour size, metastasis and recurrence. GLUT‐1 showed a prostromal expression pattern and was observed exclusively in TA (three of six cases) and in only three of 14 ACC. Conclusions: Both the absence of significant alterations in levels of expression of HIF‐1α, VEGF and CD105 and the patterns of expression of HIF‐1α and GLUT‐1 suggest that hypoxia may not play a key role in the process of high‐grade transformation of ACC. Although HIF‐1α expression is a common finding in ACC, it cannot be used as a marker of tumour aggressiveness. 相似文献
20.
Shu-Chao Weng Chuen-Bin Jiang Hsin Chi Shin-Lin Shih U Chan Hung-Chang Lee 《中华民国医用超音波学会杂志》2017,25(2):109-114
We report a 7-year-old Taiwanese girl with acute pancreatitis (AP) complicated with pseudocyst (PC). The girl was found to have a PC by ultrasonograpgy (USG) and magnetic resonance imaging 14 days after the onset of AP. The girl was discharged 21 days after management with an asymptomatic PC. The diagnostic criteria of AP included abdominal pain, serum amylase or lipase level, and imaging findings. Transabdominal USG after appropriate preparation with adequate fasting, intake of some liquids during the scanning, and right decubitus position enhance the demonstration of pancreas and peripancreatic structures. PC could be seen in up to 38% of pediatric AP patients. It can form within 2 weeks after the onset of symptoms, although most are late complications. Pancreatic PCs have to be differentiated from other intra-abdominal cysts on USG according to their image character and anatomic location. A well-prepared USG examination in combination with liquid intake and right decubitus position is of value in the diagnosis and follow-up of PC. 相似文献