			Home About us Contact

Several Syndromes (several + syndrome)

Distribution by Scientific Domains

Medical Sciences	50%
Life Sciences	50%

Selected Abstracts

Genetic Malformations of the Cerebral Cortex and Epilepsy

EPILEPSIA, Issue 2005
Renzo Guerrini
Summary:, We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ,20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly,pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox,Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox,Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2,21. [source]

Taurodontism: a review of the condition and endodontic treatment challenges

INTERNATIONAL ENDODONTIC JOURNAL, Issue 5 2008
H. Jafarzadeh
Abstract Taurodontism can be defined as a change in tooth shape caused by the failure of Hertwig's epithelial sheath diaphragm to invaginate at the proper horizontal level. An enlarged pulp chamber, apical displacement of the pulpal floor, and no constriction at the level of the cementoenamel junction are the characteristic features. Although permanent molar teeth are most commonly affected, this change can also be seen in both the permanent and deciduous dentition, unilaterally or bilaterally, and in any combination of teeth or quadrants. Whilst it appears most frequently as an isolated anomaly, its association with several syndromes and abnormalities has also been reported. The literature on taurodontism in the context of endodontics up to March 2007 was reviewed using PubMed, MEDLINE and Cumulative Index to Nursing & Allied Health Literature. Despite the clinical challenges in endodontic therapy, taurodontism has received little attention from clinicians. In performing root canal treatment on such teeth, one should appreciate the complexity of the root canal system, canal obliteration and configuration, and the potential for additional root canal systems. Careful exploration of the grooves between all orifices particularly with magnification, use of ultrasonic irrigation; and a modified filling technique are of particular use. [source]

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: Postulated involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

BIRTH DEFECTS RESEARCH, Issue 3 2003
Maria Cristina Digilio
BACKGROUND RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2,3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated. METHODS We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes. RESULTS Anatomic similarities between heterotaxia and CHDs of several syndromes with postaxial polydactyly have been noted previously, considering the frequent association of AVCD with common atrium in these conditions. It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway. Cholesterol has a critical role in the formation of normally active hedgehog proteins. It could be hypothesized that specific types of CHDs in RSH/SLOS can be caused by modifications of the SHH protein related to the defect of cholesterol biosynthesis. CONCLUSIONS The specific association of AVCD and anomalous pulmonary venous return in patients with RSH/SLOS and the finding of AVCD ± common atrium in several syndromes with polydactyly leads to the hypothesis that heterotaxia due to SHH anomalies could be involved in a large spectrum of conditions. Perturbations in different components of the SHH pathway could lead to several developmental errors presenting with partially overlapping clinical manifestations. Birth Defects Research (Part A) 67149,153, 2003. © 2003 Wiley-Liss, Inc. [source]

Redefining Affective Disorders: Relevance for Drug Development

CNS: NEUROSCIENCE AND THERAPEUTICS, Issue 1 2008
Steven D Targum
The evaluation of new drug entities with specific modes of action may be hampered by rigid diagnostic classification systems and patient selection processes that do not focus on the anticipated symptomatic, behavioral, and functional outcomes to be achieved. Patients enrolled in central nervous system (CNS) clinical trials may present with a heterogeneous group of symptoms representing several syndromes or subtypes, subsumed under the same diagnosis in the DSM-IV classification system. As a result, enrolled patients may not have the valid illness characteristics of interest to the particular study. We propose that clinical drug development needs to focus on the primary nosological entity likely to be affected by a new drug entity's mode of action. Ideally, a valid patient will have the acute primary symptoms that the novel drug is supposed to influence. In this article, we propose operational criteria to delineate a more symptom-specific and ecologically valid approach to the identification of the valid patient for clinical trials. [source]