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PubMed2006

Nurses' professed knowledge of genetics and genetic counseling.

All over the world, the increased awareness of the importance of early diagnosis of genetic diseases has given them priority in primary health care. However, more recent surveys indicate that genetics content is still lacking in nursing curricula. This survey aimed to measure the current status of primary care nurses' knowledge about genetics and genetic counseling, and the educational needs of nurses related to human genetics in the Denizli region of Turkey. This area in western Turkey has an 11.7% rate of consanguineous marriages; about 3.5% of the population are hemoglobinopathies carrier and 3.2% are thalassemia carriers. Data were collected on forms that aimed to obtain information about nurses' approaches to genetics and genetic counseling. A total of 86 of 106 nurses working in Denizli province returned the questionnaire (response rate of 81.1%). Phenylketonuria, at 61.5%, and Cooley's anemia, at 60.0%, were identified as the subjects these nurses were most knowledgeable about in terms of genetic disorders. A high percentage of nurses admitted they had insufficient knowledge about the genetic basis of diseases (96.4%), inheritance patterns (98.9%), ethical and legal issues (100.0%), genetic counseling (100.0%), gene testing (95.9%), and genetic engineering (97.9%). About 67% of nurses stated they would like to attend a training course on these subjects. As a result of this study a genetics course is planned for nurses so they can actively participate in the prevention and early diagnosis of genetic diseases.

Adult↗
PubMed2003

Genetics and the management of women at high risk for breast cancer.

It is estimated that 5%-10% of all breast cancers in women are associated with hereditary susceptibility due to mutations in autosomal dominant genes, such as BRCA1 and BRCA2, p53, pTEN, and STK11/LKB1. Another 15%-20% of female breast cancers occur in women with a family history but without an apparent autosomal dominant inheritance pattern, and are probably due to other genetic factors with environmental influence. Approximately 7%-10% of ovarian cancers occur in women with hereditary susceptibility, primarily secondary to mutations in BRCA1 and BRCA2, with smaller contributions from mutations in mismatch repair genes associated with the hereditary nonpolyposis colorectal cancer and other, as yet undiscovered, genes.

Breast Neoplasms↗
PubMed2001

Abnormal glomerular basement membrane laminins in murine, canine, and human Alport syndrome: aberrant laminin alpha2 deposition is species independent.

Kidneys from mice, dogs, and humans with X-linked and autosomal-recessive forms of Alport syndrome were examined by immunofluorescence for expression of laminin alpha, beta, and gamma chains using monospecific antibodies. Laminin alpha2 chain was absent from glomerular basement membranes (GBM) in normal human, murine, and canine kidneys but was abnormally deposited in Alport GBM, regardless of species or inheritance pattern. In murine and canine Alport kidneys, laminin alpha2 seems to be deposited as part of both laminin-2 (alpha2beta1gamma1) and laminin-4 (alpha2beta2gamma1) but as part of only laminin-4 in human Alport kidneys. GBM laminin alpha2 chain deposition was not observed in a variety of non-Alport human glomerulopathies. This finding adds to the list of proteins that are aberrantly deposited in Alport GBM as a consequence of the absence of the alpha3, alpha4, and alpha5 chains of type IV collagen: (1) type IV collagen alpha1 and alpha2 chains, (2) type V collagen, (3) type VI collagen, and most recently (4) the laminin alpha2 chain and (5) the laminin alpha1 and beta1 chains in mice and dogs. These findings emphasize further the critical role played by the alpha3, alpha4, and alpha5 chains of type IV collagen in establishing and maintaining the composition, structure, and function of mature GBM.

Animals↗
PubMed2006

Duchenne's cardiomyopathy: two case reports.

We describe two cases of Duchenne's cardiomyopathy with severe cardiac dysfunction, sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Very mild signs of skeletal myopathy were clinically evident. Left ventriculography showed diffuse severe hypokinesia. Skeletal muscle biopsy demonstrated a dystrophic process. The patients had no familial background of the disease. These 2 patients might have a sporadic inheritance pattern with severe cardiac involvement.

Adolescent↗
PubMed2002

Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene.

A 52-year-old woman with early-onset diabetes mellitus, severe diabetic retinopathy, and a family history of a dominant inheritance pattern was referred to our hospital. Direct sequencing revealed a novel mutation in the HNF-4alpha gene (R244Q). The position of the mutation in the amino-acid sequence of the gene is well conserved among species and transcriptional activity of the mutant gene was significantly reduced. Therefore, a diagnosis of maturity-onset diabetes of the young (MODY)-1 was made. Genetic testing enabled early diagnosis of diabetes in the patient's 20-year-old daughter, which we consider to be important for the prevention of diabetic complications.

Adult↗
PubMed2005

Genetic and genomic approaches to glomerulosclerosis.

Chronic kidney disease (CKD) is common, progressive and expensive to manage. Although modifiable risk factors can be treated and outcomes improved, CKD remains a chronic disease with excessive morbidity and mortality. The completion of the human genome sequence and the advent of methodologies to define gene function provide new opportunities to manage and treat patients with CKD and other chronic diseases. Despite the lack of clear correspondence between genotype and phenotype and an obvious Mendelian inheritance pattern, CKD susceptibility has a genetic basis. In this review, we focus on recent studies of familial focal segmental glomerulosclerosis and the discoveries that have resulted from both genetic and genomic approaches used to understand its pathogenesis. Key slit diaphragm proteins were discovered using linkage analyses of these rare causes of glomerulosclerosis and subsequent work has characterized slit diaphragm function in health and disease. Podocyte dysfunction is now recognized as a key contributor to the functional and histologic derangements that characterize glomerular dysfunction in many common causes of CKD. In aggregate, these studies provide a paradigm for approaches to better define mechanisms of CKD and to identify novel therapeutic targets.

Animals↗
PubMed1987

Epidermolysis bullosa: radiographic findings in 16 cases.

Epidermolysis bullosa is a group of dermatologic disorders with varied inheritance patterns having the common manifestation of blister or bulla formation after minor trauma. Sixteen patients with the disease had the following radiographic manifestations: esophageal stricture (16), fecal impaction (six), vaginal stenosis (one), epithelial bridging and fusion of the digits (six), and aspiration changes in the lungs (two). Esophageal strictures involved the pharynx or cervical esophagus in eight cases and were multiple in five; they ranged in length from 2 mm to 15 cm and tended to progress over time. The findings of esophageal stricture, particularly when multiple and involving the proximal esophagus, and/or the presence of distal phalangeal atrophy with soft-tissue webbing suggest the diagnosis of epidermolysis bullosa.

Adolescent↗
PubMed2000

Recent advances in the understanding of genetic causes of congenital heart defects.

The clinical approach to children with congenital heart defects (CHD) has been revolutionized during the past four decades by developments in diagnostics and therapeutics. In contrast, a profound understanding of the causes of the majority of CHD has only begun to emerge within the past few years. Prior epidemiological studies suggested that Mendelian disorders constituted a very small percentage of CHD and that polygenic inheritance was responsible for the majority of cases. Recent discoveries, largely achieved with molecular genetic studies, have provided new insights into the genetic basis of heart malformations. These studies have shown that CHD caused by single gene or single locus defects is more common than had been suspected. In addition, a higher percentage of heart malformations occur in the context of familial disease than was evident previously. In this review, molecular genetic studies of specific heart lesions and syndromes with CHD are reviewed. Progress on the Human Genome Project has accelerated identification of genes for Mendelian traits with heart defects, and it is anticipated that disease genes for most single gene traits will be known within a few years. Future challenges include utilizing this emerging genetic information to improve diagnosis and treatment of children with CHD, and harnessing the power of genomics to analyze isolated heart defects with complex inheritance patterns.

Animals↗
PubMed1994

Renin gene restriction fragment length polymorphisms do not show linkage with preeclampsia and eclampsia.

OBJECTIVE: To investigate linkage between the renin gene restriction fragment length polymorphisms in families with a history of preeclampsia/eclampsia. METHODS: Nine Icelandic families with at least three affected females in two or three generations were investigated. DNA from lymphocytes was digested with the endonuclease restriction enzyme Bgl I and restriction fragments were transferred by Southern Blotting. Hybridisation was effected with the 32P-oligonucleotide-labeled diallelic genomic probe pHRnX 0.8. LOD scores were calculated by the Liped program for two forms of inheritance patterns. Affected sib pairs were analysed. RESULTS: Frequencies of the 9.0 kb and 5.0 kb alleles were 0.67 and 0.33, with no significant differences between affected females and spouses and combined LOD scores of -2 for recombination values of 3%. Allele sharing in affected sibs was not different from the expected random assortment. CONCLUSION: The linkage analysis provides evidence to exclude alteration of the renin gene in pregnancy as being directly responsible for the manifestations of preeclampsia or eclampsia in these families.

Alleles↗
PubMed1984

Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.

Clinical otological features, hearing status and middle ear function in 201 patients with osteogenesis imperfecta are presented. The study covered 76% of the expected total number of patients with osteogenesis imperfecta in Denmark. 78% of the patients exhibited an autosomal dominant inheritance pattern with an almost 100% penetrance. In 39% of the ears examined, a conductive or mixed hearing loss was found. Sensorineural hearing loss or anacusis was seen in 11% of the ears. In most cases the onset of hearing impairment was noted in the second or third decade and progressing with increasing age, especially after the age of 60. Tympanometry and acoustic reflex measurements suggested that the cause of conductive or mixed hearing loss was stapedial fixation and in a few cases ossicular discontinuity due to aplasia or fracture of the stapedial crura. Findings during stapedectomy in 32 patients confirmed these assumptions.

Acoustic Impedance Tests↗
PubMed1998

Molecular genetics of Alzheimer's disease.

Genetic factors are involved in the aetiology of Alzheimer's disease (AD) in 25-40% of the cases. In some cases AD clearly segregates as an autosomal dominant trait in families. Three genes have been identified which, when mutated, cause AD: the Abeta amyloid precursor protein gene (APP), and the presenilin-1 (PSEN1) and presenilin-2 (PSEN2) genes. Together, these mutations are responsible for 30-50% of the cases with autosomal dominant AD, and for about 5% of AD in general. In cases where the inheritance pattern is unclear and in sporadic cases the epsilon4 allele of the apolipoprotein E gene (APOE) has been identified as a major risk factor contributing to the pathogenesis of AD in about 20% of the cases. Although mutations in the known genes are a rare cause of AD they are useful for the purposes of presymptomatic diagnostics in autosomal dominant AD families that segregate these mutations. Also, the identification of these genes and mutations has been extremely important to the recent evolution in the understanding of the biology of the disease. However, other causative and risk genes are involved in AD and need to be identified in order to fully elucidate the biology of AD. This will ultimately lead to the development of effective therapies for this major disease.

Aged↗
PubMedDate not supplied

Triplet repeat gene sequences in neuropsychiatric diseases.

The human genome has many nucleotide repeat sequences. These range from a single repeating base to entire duplicated genes. Expansion of repeating triplets of nucleotides in the genome has recently been associated with nine degenerative and developmental neuropsychiatric diseases: fragile X syndrome, fragile X-linked mental retardation, myotonic dystrophy, Friedreich's ataxia, spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type 1, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease. These diseases are all conditions of the central nervous system; in all of them, the inheritance pattern usually exhibits the phenomenon of anticipation (defined as progressively earlier age of onset or a worsening disease severity over successive generations), and the severity of the phenotypic expression and penetrance appears to be related to the extent of the triplet expansion. Identification of this pathological genetic phenomenon solves several of the mysteries that surrounded these conditions but raises many important questions regarding pathogenic mechanisms that may be shared. There is some indication that triplet expansions may also underlie other neuropsychiatric conditions such as schizophrenia or bipolar disorder.

Brain Diseases↗
PubMed1995

Familial pars planitis.

Pars planitis is an intraocular inflammatory disorder which usually affects children or young adults and is characterized by vitreous cells and debris ('snowballs'), exudate, and 'snowbank' formation along the pars plana, variable periphlebitis, and cystoid macular edema. Although no inheritance pattern has been defined, familial cases of pars planitis have been reported. This report describes pars planitis in two sisters, one of whom had evidence of demyelinating disease at presentation. The literature on familial pars planitis is reviewed. To the author's knowledge this is the first case of familial pars planitis as the presenting sign of possible demyelinating disease.

Administration, Oral↗
PubMedDate not supplied

Approaches to the construction of a medical informatics glossary and thesaurus.

In a project concerned with establishing a glossary and thesaurus for the medical informatics domain, various approaches to the task have been investigated. The developers take the view that a glossary should be a coherent system of terms, reflecting a coherent system of concepts that underlies a body of knowledge about a domain. A framework for the conceptual analysis of the concepts/terms underlying the domain has been developed. The emphasis of this framework is on how the concepts relate together. This work has given an important insight into how the practical task of establishing well-structured vocabularies for a field can be better achieved. An eclectic approach to term selection was adopted. Criteria for assessing what constitutes good definitions for concepts in a field were examined. Using all these approaches glossaries, thesauri and domain models of the medical informatics field are being developed. Another aspect of our work of particular interest is the development of attributed definitions from which inheritance patterns can be defined.

Data Collection↗
PubMed2003

A controlled study of psychopathology and associated symptoms in Tourette syndrome.

BACKGROUND: Gilles de la Tourette syndrome (GTS) is a neurobehavioural disorder of genetic origin, although the precise inheritance pattern is as yet undetermined. This study was designed to describe symptomatology in GTS subjects. It describes the severity of depressive, anxiety and obsessional symptoms when compared to other samples of GTS patients, matched controls and normative data. METHODS: 87 consecutive GTS clinic referrals (children and adults) were interviewed in 1996 and 1997 using the National Hospital Interview Schedule, the Yale Global Tourette Severity Score, the Diagnostic Confidence Index, Beck Depression Inventory (BDI), Spielberger State-Trait anxiety Index (STAI) and Leyton Obsessional Inventory (LOI). 52 healthy controls were interviewed using the BDI, STAI and LOI. The clinical status of the subjects was described and ratings of psychopathology were compared with the control group and with normative data. Data were compared with previous data from similar clinic samples. RESULTS: In this controlled study, GTS subjects scored highly on ratings of depression, state anxiety and obsessionality when compared with controls and with normative data. Scores in the subjects group were similar to previous findings in clinic samples of people with GTS. CONCLUSIONS: People with GTS who attend clinics have a variety of psychological symptoms that are significantly more severe than controls. Accessory symptoms (e.g. coprophenomena, echophenomena) were also very common in the subject group. Psychological symptoms may occur as part of the disease, a reaction to disability or as a result of ascertainment bias.

Adult↗
PubMed1977

Genetic perspectives on craniosynostosis and syndromes with craniosynostosis.

Thirty-seven syndromes in which craniosynostosis is a feature are presented in tabular form, allowing the clinician to rapidly identify a given syndrome and gain immediate access to the pertinent literature. A plea is made to delineate unknown genesis syndromes with craniosynostosis as rapidly as possible. As an unknown genesis syndrome becomes delineated, its phenotypic spectru, its natural history, and its inheritance pattern or risk of recurrence become known, allowing for better patient care and family counseling.

Craniosynostoses↗
PubMed1993

Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis.

Jarcho-Levin syndrome (JLS) is a condition manifested by malformations of vertebral bodes and related ribs. There are two major subtypes spondylocostal dysostosis and spondylothoracic dysostosis, with different survival rates, associated malformations, and inheritance patterns. We have experienced an autopsy case of a premature female fetus with multiple congenital anomalies. She was 30 weeks of gestational age, born as the second baby of twins and expired shortly after birth. A post-mortem examination revealed multiple abnormalities including cervicothoracic hemivertebrae, a diminished number of right-sided ribs, and pulmonary hypoplasia with left diaphragmatic hernia. In addition, there were anomalous rotation of the foregut, unfused pancreas and anomalous drainage of the superior vena cava. Chromosomal analysis showed 46, XX, del(4)(q ter).

Abnormalities, Multiple↗
PubMed2002

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.

A family with paramyotonia congenita (PC) is presented. At least 10 family members were affected in an autosomal dominant inheritance pattern. The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound muscle action potentials with repetitive discharges. Muscle biopsy revealed marked variation in the fiber size and increased internal nuclei. The molecular biological study revealed a common missense mutation (Arg1448Cys) at the voltage-gated sodium channel gene (SCN4A). The repetitive CMAP discharges during short exercise test with cooling observed in the proband has not been reported previously. This observation needs to be confirmed among PC patients with different mutations. This is the first report on a PC family confirmed by the molecular biological technique in Korea.

Adult↗