共查询到20条相似文献,搜索用时 15 毫秒
1.
Prof. Dr. R. Happle 《Medizinische Genetik》2007,19(4):407-413
Hair, nails and sweat glands as well as the teeth do all represent adnexal structures of the ectoderm. Hence, it is conceivable why mutations within genes controlling embryonic development may simultaneously involve the skin and the teeth. Autosomal dominant phenotypes showing a combination of cutaneous and dental anomalies include tuberous sclerosis, tricho-dento-osseous syndrome, AEC syndrome, EEC syndrome, Witkop tooth-nail syndrome, amelogenesis imperfecta with terminal onycholysis, and Böök syndrome. Autosomal recessive genodermatoses associated with dental defects are Papillon-Lefèvre syndrome, GAPO syndrome, Steijlen syndrome, and junctional epidermolysis bullosa. X-linked male-lethal disorders involving both skin and teeth include incontinentia pigmenti, Goltz syndrome, and OFD1 syndrome. Within the group of X-linked non-lethal phenotypes, Christ-Siemens-Touraine syndrome is a well-known disease, whereas ectodermal dysplasia of Zonana represents a recently delineated entity that is caused by “hypomorphic” mutations within the NEMO gene. This disorder is likewise associated with pronounced hypohidrosis, which is why the term “X-linked hypohidrotic ectodermal dysplasia” has become ambiguous and should no longer be used as a synonym for Christ-Siemens-Touraine syndrome. 相似文献
2.
Yinting Guo Kaijun Niu Haruki Momma Yoritoshi Kobayashi Masahiko Chujo Atsushi Otomo Shin Fukudo Ryoichi Nagatomi 《PloS one》2014,9(11)
Irritable bowel syndrome is a common gastrointestinal disorder that may affect dietary pattern, food digestion, and nutrient absorption. The nutrition-related factors are closely related to metabolic syndrome, implying that irritable bowel syndrome may be a potential risk factor for metabolic syndrome. However, few epidemiological studies are available which are related to this potential link. The purpose of this study is to determine whether irritable bowel syndrome is related to metabolic syndrome among middle-aged people. We designed a cross-sectional study of 1,096 subjects to evaluate the relationship between irritable bowel syndrome and metabolic syndrome and its components. Diagnosis of irritable bowel syndrome was based on the Japanese version of the Rome III Questionnaire. Metabolic syndrome was defined according to the criteria of the American Heart Association scientific statements of 2009. Dietary consumption was assessed via a validated food frequency questionnaire. Principal-components analysis was used to derive 3 major dietary patterns: “Japanese”, “sweets-fruits”, and “Izakaya (Japanese Pub) “from 39 food groups. The prevalence of irritable bowel syndrome and metabolic syndrome were 19.4% and 14.6%, respectively. No significant relationship was found between the dietary pattern factor score tertiles and irritable bowel syndrome. After adjustment for potential confounders (including dietary pattern), the odds ratio (95% confidence interval) of having metabolic syndrome and elevated triglycerides for subjects with irritable bowel syndrome as compared with non-irritable bowel syndrome are 2.01(1.13–3.55) and 1.50(1.03–2.18), respectively. Irritable bowel syndrome is significantly related to metabolic syndrome and it components. This study is the first to show that irritable bowel syndrome was significantly related to a higher prevalence of metabolic syndrome and elevated triglycerides among an adult population. The findings suggest that the treatment of irritable bowel syndrome may be a potentially beneficial factor for the prevention of metabolic syndrome. Further study is needed to clarify this association. 相似文献
3.
《生物化学与生物物理学报:疾病的分子基础》2020,1866(10):165838
Metabolic syndrome is co-occurrence of obesity, insulin resistance, atherogenic dyslipidemia (high triglyceride, low high density lipoprotein cholesterol), and hypertension. It is a global health problem. An estimated 20%–30% of adults of the world have metabolic syndrome. Metabolic syndrome is associated with increased risk of type 2 diabetes mellitus, nonalcoholic fatty liver disease, myocardial infarction, and stroke. Thus, it is a major cause of morbidity and mortality worldwide. However, molecular pathogenesis of metabolic syndrome is not well known. Recently, there has been interest in the role of mitochondria in pathogenesis of metabolic problems such as obesity, metabolic syndrome, and type 2 diabetes mellitus. Mitochondrial dysfunction contributes to the oxidative stress and systemic inflammation seen in metabolic syndrome. Role of mitochondria in the pathogenesis of metabolic syndrome is intriguing but far from completely understood. However, a better understanding will be very rewarding as it may lead to novel approaches to control this major public health problem. This brief review explores pathogenesis of metabolic syndrome from a mitochondrial perspective. 相似文献
4.
J. C. Vis K. van Engelen J. Timmermans B. C. Hamel B. J. M. Mulder 《Netherlands heart journal》2009,17(9):345-348
Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;17:345–8.) 相似文献
5.
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
6.
X-linked dominant inherited diseases with lethality in hemizygous males 总被引:10,自引:0,他引:10
Summary X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the abovementioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy-hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC defiency is included in the study, although there is no lethality in utero, only in the neonatal period.A critical evaluation of the current literature is carried out. 相似文献
7.
Alessandri L Brayer C Attali T Samperiz S Tiran-Rajaofera I Ramful D Pilorget H 《Genetic counseling (Geneva, Switzerland)》2005,16(4):363-370
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome. 相似文献
8.
Bertola DR Pereira AC Albano LM De Oliveira PS Kim CA Krieger JE 《Genetic testing》2006,10(3):186-191
Mutations in the PTPN11 gene are known to cause a large fraction of the cases of Noonan syndrome. The objective of this study was to determine the PTPN11 gene mutation rate in a cohort of clinically well-characterized Brazilian patients with Noonan or Noonan-like syndromes and to study the genotype-phenotype correlation. Fifty probands with Noonan syndrome ascertained according to well-established diagnostic criteria, 3 with LEOPARD syndrome, 5 with Noonan-like/multiple giant cell lesion syndrome, and 3 with neurofibromatosis/ Noonan were enrolled in this study. Mutational analysis was performed using denaturing high-performance liquid chromatography (DHPLC) followed by sequencing of amplicons with an aberrant elution profile. We detected missense mutations in the PTPN11 gene in 21 probands with Noonan syndrome (42%), in all 3 patients with LEOPARD syndrome, and in 1 case with Noonan-like/multiple giant cell lesion syndrome. One patient with neurofibromatosis-Noonan syndrome had a mutation in both the PTPN11 and NF1 genes. The only anomalies that reached statistical significance when comparing probands with and without mutations were the hematological abnormalities. Our data confirms that Noonan syndrome is a genetically heterogeneous disorder, with mutations in the PTPN11 gene responsible for roughly 50% of the cases. A definitive genotype-phenotype correlation has not been established, but the T73I mutation seems to predispose to a myeloproliferative disorder. Regarding Noonan-like syndromes, mutation of the PTPN11 gene is the main causal factor in LEOPARD syndrome, and it also plays a role in neurofibromatosis-Noonan syndrome. Noonan- like/multiple giant cell lesion syndrome, part of the spectrum of Noonan syndrome, is also heterogeneous. 相似文献
9.
Straight back syndrome results from the shortening of the distance between the sternum and thoracic spine leading to a compression of the heart. The syndrome is caused by the lack of spine kyphosis or cobbler's chest. Straight back syndrome produces sometimes clinical symptoms suggesting acquired heart abnormalities. However, hemodynamic cardiac functioning is normal. Prognosis is this syndrome is favourable. Straight back syndrome caused by the lack of thoracic spine kyphosis was diagnosed in a 26-year patient admitted to the hospital with suspected heart abnormality and epilepsy. 相似文献
10.
ABSTRACT: BACKGROUND: Kleine-Levin syndrome is a rare idiopathic form of episodic hypersomnia that typically occurs during adolescence. The cardinal clinical features are recurrent hypersomnia, accompanied by cognitive disturbances and behavioral abnormalities [1]. The most typical form of classical Kleine-Levin syndrome is associated with hyperphagia [2, 3], although hyperphagia is now optional after change of the criteria. Hypersexuality, behavioral disinhibition, delusions, autonomic alteration and hallucinations have also been described, but the patients show normal cognitive function and behavior between attacks. The pathogenesis of Kleine-Levin syndrome is not yet known. Although most cases of recurrent hypersomnia are sporadic, the occurrence of nine familial cases indicate that there may be a genetic predisposition to the syndrome [4-8] However, no cases of twins affected with Kleine-Levin syndrome have been reported [9]. In this case study we describe monozygotic twins suffering from the syndrome. This is the first case report describing twins affected with Kleine-Levin syndrome thereby supporting the theory that there is an underlying genetic predisposition to the syndrome. 相似文献
11.
Morioka D Suse T Shimizu Y Ohkubo F Hosaka Y 《Plastic and reconstructive surgery》1999,103(5):1458-1463
We report a 4-year-old girl with characteristic features of the Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) who also had submucous cleft palate. When she underwent a palatoplasty, a diagnosis of Langer-Giedion syndrome was made because of the characteristic facial features, multiple exostoses, and partial deletion of the long arm of chromosome 8. This is the first case of trichorhinophalangeal syndrome associated with cleft palate. We review the clinical alterations of trichorhinophalangeal syndromes and differential diagnosis of Langer-Giedion syndrome from trichorhinophalangeal syndrome type I and hereditary multiple exostoses. We also describe the importance of trichorhinophalangeal syndrome in plastic surgery. 相似文献
12.
Percutenous catheter ablation of the accessory pathway in Wolff-Parkinson-White syndrome is a highly successful mode of therapy. Sudden cardiac arrest survivors associated with WPW syndrome should undergo radiofrequency catheter ablation. WPW syndrome associated with familial atrial fibrillation is a very rare condition. Herein, we describe a case who presented with sudden cardiac arrest secondary to WPW syndrome and familial atrial fibrillation and treated via radiofrequency catheter ablation. 相似文献
13.
Ezgu F Eminoglu T Okur I Gunduz M Tumer L Hasanoglu A Dalgic B 《Genetic counseling (Geneva, Switzerland)》2011,22(2):217-220
Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures, inability to feed, liver cysts with hepatic dysfunction, chondrodysplasia punctata. Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short stature. Abnormal liver functions and some atypical findings were also reported in some patients with Kabuki syndrome. In this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen in Kabuki Syndrome will be presented. The inclusion of Zellweger syndrome into the differential diagnosis of the patients with Kabuki-like phenotype in addition to abnormal liver functions is emphasized. 相似文献
14.
Buyukcelik M Satar N Dursun H Bayazit Y Bayazit AK Soran M Noyan A Anarat A 《Genetic counseling (Geneva, Switzerland)》2005,16(1):41-44
Beckwith-Wiedemann syndrome is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihypertrophy, omphalocele, macroglossia and renal malformations. We report a child with Beckwith-Wiedemann syndrome and posterior urethral valves. Urethral valve resection was successfully performed under general anesthesia after voiding cystourethrography. This is the first report of Beckwith-Wiedemann syndrome associated with posterior urethral valves. 相似文献
15.
The authors distinguish three kinds of hepatogenous polyglobulia: Polycythaemia caused by Budd-Chiari syndrome, polycythaemia caused by a Mosse syndrome (cirrhosis without liver venous thrombosis) and polyglobulia caused by liver tumours. In all three cases the same mechanism is likely to induce polycythaemia or polyglobulia respectively. In addition to the three cases of the Mosse syndrome published in 1966, the present paper deals with three cases of Budd-Chiari syndrome. Twice the Budd-Chiari syndrome was followed by a polycythaemia, once a Budd-Chiari syndrome was developed in the course of a polycythaemia vera. 相似文献
16.
Caksen H Cesur Y Kirimi E Uner A Arslan S Celebi V Tuncer O Odabas D 《Genetic counseling (Geneva, Switzerland)》2002,13(2):179-182
Allgrove syndrome (triple-A syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone-resistant adrenal insufficiency, achalasia and alacrima. Aside from the classic features of the syndrome, several abnormalities including mainly neurological abnormalities have been reported in the syndrome. Herein, we presented a case of Allgrove syndrome associated with left renal ectopla. To the best of our knowledge renal abnormality in Allgrove syndrome has not been reported in the literature until now. We think that ectopic kidney diagnosed in our patient is coincidental because the incidence of renal ectopia is high, approximately 1 in 900 in population. 相似文献
17.
We report a case of Nager acrofacial dysostosis, whose clinical examination disclosed some undescribed features, as a contribution to a better delineation of this syndrome. Previously unreported features include lobulated tongue, cleft lip and mental retardation. Fetal alcohol syndrome is discussed. We propose to reunificate Richieri-Costa syndrome and Nager syndrome. 相似文献
18.
Utine GE Alanay Y Atkaş D Boduroğlu K Alikaşifoğlu M Tunçbilek E 《Genetic counseling (Geneva, Switzerland)》2008,19(3):291-300
Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is an important step in clinical work-up of patients with Kabuki syndrome. 相似文献
19.
Metabolic syndrome is characterized by the cluster of a number of metabolic abnormalities in the presence of underlying insulin resistance. The prevalence of metabolic syndrome has steadily increased in all populations worldwide. Taurine (2-aminoethanesulfonic acid) is a sulfur-containing amino acid that is involved in a variety of physiological functions. Clinical and experimental studies show that taurine intake may be beneficial in the prevention of metabolic syndrome including diabetes, obesity, dyslipidemia, and hypertension. This article reviews the effect of taurine on all of the components of metabolic syndrome. In addition, the possible mechanisms by which taurine prevents diabetes and metabolic syndrome are also discussed. Further study is needed to determine the role of taurine in the development of metabolic syndrome in humans, because there is presently limited clinical data available. 相似文献
20.
随着代谢综合症在世界范围内的广为流行,已经引起人们的高度重视.代谢综合征以肥胖和代谢异常为特征,胰岛素抵抗为主要的病理机制.瘦素主要来源于脂肪组织,是调节体内脂肪储量和维持能量平衡的一种内分泌激素.瘦素缺乏和瘦素抵抗不仅可以直接引起胰岛素抵抗,而且可以通过导致肥胖继而参与胰岛素抵抗的发生,最终引起代谢综合征.瘦素作为一种新的代谢综合征致病因子,参与代谢综合征的发生发展,故调节瘦素水平为临床治疗代谢综合症提供了新的思路和方法.本文综述了瘦素水平与代谢综合症的关系,以及调节瘦素水平治疗代谢综合征的方法. 相似文献