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PubMed2006

Clinical and radiological manifestations of osteogenesis imperfecta type V.

We reviewed clinical manifestation of 12 patients from three Korean families. They showed mild to moderate bone fragility, and suggested an autosomal dominant inheritance pattern. Significant intrafamilial phenotype variability was obvious. Clinical, radiological, and histopathologic characteristics that distinguished this subtype from others include ossification of interosseous membrane of the forearm with radial head dislocation, hyperplastic callus formation, no evidence of type I collagenopathy and an abnormal histopathologic pattern. Severity of the interosseous membrane ossification was correlated with increasing age (p<0.01) and the radial head dislocation was thought to be a developmental problem rather than a congenital problem. Four children who had bisphosphonate treatment showed improved bone mineral density, radiological changes, and biochemical responses. Osteogenesis imperfecta type V was a distinctive subtype of osteogenesis imperfecta, which caused mild to moderate disability clinically.

Adult↗
PubMed2000

Evidence for common autoimmune disease genes controlling onset, severity, and chronicity based on experimental models for multiple sclerosis and rheumatoid arthritis.

The pathogenicity of multiple sclerosis is still poorly understood, but identification of susceptibility genes using the animal model experimental allergic encephalomyelitis (EAE) could provide leads. Certain genes may be shared between different autoimmune diseases, and identification of such genes is of obvious importance. To locate gene regions involved in the control of EAE and to compare the findings with the susceptibility loci recently identified in a model for rheumatoid arthritis (pristane-induced arthritis), we made crosses between the encephalomyelitis- and arthritis-susceptible rat strain DA and the resistant E3 strain. Genetic analysis of animals produced in a F2 intercross identified 11 loci associated with specific EAE-associated traits. Interestingly, five of these loci were situated at the same position as major loci controlling pristane-induced arthritis and showed similarities in inheritance pattern and subphenotype associations. Our results show that different phases of EAE are controlled by different sets of genes and that common genes are likely to be involved in different autoimmune diseases.

Animals↗
PubMed2003

Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency.

Selective IgA deficiency (IgAD) and common variable immunodeficiency (CVID) are the most common primary immunodeficiencies in humans. A high degree of familial clustering, marked differences in the population prevalence among ethnic groups, association of IgAD and CVID in families, and a predominant inheritance pattern in multiple-case pedigrees have suggested a strong, shared genetic predisposition. Previous genetic linkage, case-control, and family-based association studies mapped an IgAD/CVID susceptibility locus, designated IGAD1, to the MHC, but its precise location within the MHC has been controversial. We have analyzed a sample of 101 multiple- and 110 single-case families using 36 markers at the IGAD1 candidate region and mapped homozygous stretches across the MHC shared by affected family members. Haplotype analysis, linkage disequilibrium, and homozygosity mapping indicated that HLA-DQ/DR is the major IGAD1 locus, strongly suggesting the autoimmune pathogenesis of IgAD/CVID. This is supported by the highest excess of allelic sharing at 6p in the genome-wide linkage analysis of 101 IgAD/CVID families using 383 marker loci, by previously reported restrictions of the T cell repertoires in CVID, the presence of autoantibodies, impaired T cell activation, and a dysregulation of a number of genes in the targeted immune system. IgAD/CVID may thus provide a useful model for the study of pathogenesis and novel therapeutic strategies in autoimmune diseases.

Alleles↗
PubMed2002

Childhood porphyrias.

Childhood porphyrias are an uncommon group of metabolic disorders that result from inherited deficiencies of enzymes involved in the heme biosynthetic pathway. Although childhood porphyrias have been reported globally, their exact incidence is unknown. The inheritance patterns of these disorders are complex. Phenotypic variability is common among individual disease states and results partly from the presence of genetic heterogeneity. Childhood porphyrias typically present with photosensitivity and unique skin lesions. Therapy is limited and consists mostly of symptomatic and preventive measures. Although the disease course is variable, mortality from these disorders is rare.

Child↗
PubMed2004

Molecular genetics of colorectal cancer.

Colorectal tumours constitute an excellent system to study carcinogenesis and the molecular events implicated in the development of cancer. Attending to the way it is transmitted, colorectal cancer may appear in one of three forms: sporadic, familial, and hereditary. The sporadic form is most common and has no familial or hereditary associated factor thus far, while familial and hereditary forms show the same inheritance pattern. Hereditary colorectal cancers develop by means of defined stages that go from lesions in the crypt of the colon through adenomas to manifest cancer. They are characterised by the accumulation of multiple mutations in tumour suppressor genes and oncogenes that affect the balance between cell proliferation and apoptosis. The colorectal carcinogenesis pathway is not unique and there are probably several ways for the initiation, development and progression of colorectal tumours.

Clinical Trials as Topic↗
PubMedDate not supplied

[Genetic mechanisms in the hereditary predisposition to colorectal cancer].

A proportion of colorectal cancers shows some type of genetic predisposition that can be recognised in clinical practice. From the classical dominant inheritance pattern of familial adenomatous polyposis or hereditary non-polyposis colorectal cancer, through the recessive transmission of the MYH associated polyposis, to the new syndromes of the "serrated pathway" or low-penetrance alleles, the discovery of new genes and a deeper understanding of the mechanisms of action of already-known ones are enabling us to understand new aspects of the colorectal carcinogenesis. This is throwing a new light on some of the observed familial aggregation patterns which had remained unexplained.

Adenomatous Polyposis Coli↗
PubMed2003

Pharmacogenomics and drug response.

Following pioneer work in the early 20th century, the era of molecular pharmacogenomics started with the cloning of a polymorphic gene encoding the drug-metabolizing enzyme cytochrome P450-2D6. Today, recent conceptual and methodological advances in genomics allow a much broader approach to elucidating inheritance patterns in drug response and identification of functional polymorphisms, that affect drug response, has become a key issue. Despite recent euphoria about potential applications of pharmacogenomic principles, currently available pharmacogenomic data have had modest overall impact on the routine of drug therapy. Most data were derived from single gene approaches for select drug metabolizing enzymes with extreme phenotypes. Data on genetic determinants of drug distribution, absorption and response, however, are scarce and it seems that most events in the dose-response cascade follow a complex interplay of environmental factors with several genes encoding proteins in multiple pathways. Thus, there is great need for clinical studies on genotype-phenotype and gene environment interactions, based on multiple gene approaches. Major challenges also relate to practical aspects of clinical pharmacogenomic studies, e.g. appropriate data handling, selection of appropriate study designs and control groups and issues of prediction accuracy. To move to a clinically useful and predictive level in pharmacogenomics, much work remains to be completed. Nevertheless, it can be anticipated that for select drugs, pharmacogenomics may lead to a shift from the current strategy of developing medications for a statistically optimized fraction of patients to a strategy that aims to provide tailored medications for genetically diverse patients.

Dose-Response Relationship, Drug↗
PubMed1988

Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension.

We describe the first cases of familial pulmonary capillary hemangiomatosis, a disorder in which capillaries in the lungs proliferate. Three siblings died from primary pulmonary hypertension. One developed pulmonary congestion preterminally after vasodilator treatment. The inheritance pattern seems autosomal recessive. Lung specimens obtained in two siblings showed extensive pulmonary capillary hemangiomatosis, with normal capillaries proliferating into veins and alveoli. Including our patients, four of the nine patients with pulmonary capillary hemangiomatosis have presented with the clinical picture of primary pulmonary hypertension. Thus, pulmonary capillary hemangiomatosis should be considered as a histologic pattern of primary pulmonary hypertension. Most other cases of pulmonary capillary hemangiomatosis have been similar to pulmonary veno-occlusive disease. Recently, disorders involving the proliferation of cytologically normal capillaries have been termed angiogenic diseases. Pulmonary capillary hemangiomatosis may be an angiogenic disease.

Adult↗
PubMedDate not supplied

The role of genetic factors in maintaining health.

This article reviews the essential background information nurses need to help them understand how genetics influences health and ill-health. The typical human genetic make-up is described, along with an explanation of how changes to this can result in disease. The author also describes the characteristics of different patterns of inheritance.

Genetic Counseling↗
PubMed2001

Color Doppler ultrasonography of the superior mesenteric artery for prenatal ultrasonographic diagnosis of a left-sided congenital diaphragmatic hernia.

The incidence of congenital diaphragmatic hernia (CDH) has been estimated as 1 per 2000 to 1 per 4000 births. The etiology of the malformation is unknown, but it has been reported in association with maternal administration of medications such as thalidomide or antiepileptics before closure of the pleuroperitoneal canal at 9 to 10 weeks' gestation as well as having a familial inheritance pattern. Congenital diaphragmatic hernia is associated with other congenital anomalies in 25% to 57% of cases and with chromosomal abnormalities in 10% to 20% of cases. Posterolateral, anterolateral, and pars sternalis defects of closure of the pleuroperitoneal canal encompass the 3 types of CDH. The most frequent type is the left-sided posterolateral defect or Bochdalek's hernia, which accounts for 81% of cases.

Adult↗
PubMed1998

Effect of parental myopia on the development of myopia in Hong Kong Chinese.

A representative sample of Hong Kong Chinese children was followed from 7 to 12 years of age. Refractive error was measured every year (n = 123 at age 7 years and n = 83 at age 12 years), the axial length of the eye was measured at age 12 years (n = 81) and the refractive status of the parents was also determined. Thirty-one percent of the parents in the sample were myopic and at the age of 12 years 53% of the children were myopic. There was no association between the refractive status of the parents and whether or not a child had myopia. The probability of a 12-year-old child with early-onset myopia having at least one myopic parent was 0.55 and the probability of myopic parents having a myopic child was 0.6. There was no difference in the refractive error or the axial length of 12-year-old children according to whether neither, one or both parents were myopic. The genetic influence on myopia may be different in Caucasian and Chinese children, although it is also possible that non-expression of the genotype in the parents may have confounded the determination of the inheritance pattern of myopia in Hong Kong Chinese children.

Adolescent↗
PubMed1998

Isolation and characterization of two novel organophosphate resistance mechanisms in Culex pipiens from Cyprus.

Two novel mechanisms of organophosphate resistance were isolated and characterized from a population of Culex pipiens L. from Cyprus. Two strains, one expressing the novel, highly active esterases A5 and B5 (strain A5B5-R), and one expressing insensitive acetylcholinesterase (strain Ace-R), were developed by single pair crosses and selection with temephos and propoxur, respectively. The A5B5-R strain demonstrated resistance toward organophosphate insecticides that could be suppressed by the esterase inhibitor S,S,S-tributyl phosphorotrithioate (DEF). No cross-resistance to carbamates occurred. The Ace-R strain demonstrated resistance to organophosphate as well as to carbamate insecticides. Propoxur and temephos resistance was not affected by the monooxygenase inhibitor piperonyl butoxide or by DEF. The Ace-R strain possessed a novel toxicologic profile as well as a unique acetylcholinesterase inhibition pattern. Inheritance of temephos or propoxur resistance was codominant in F1 offspring. Backcrosses to a susceptible strain in both cases failed to fit a single gene model, suggesting that multiple loci may be involved. Combining the A5B5-R and the Ace-R strains resulted in high levels of temephos resistance, similar to that of the parents.

Acetylcholinesterase↗
PubMed1976

Chronic granulomatous disease of childhood.

Two boys and one girl suffering from recurrent severe bacterial infections were investigated. All 3 exhibited normal cellular and humoral immunity, normal neutrophil phagocytic ability, and defective neutrophil bacterial capacity. The clinical features and laboratory findings in these patients are diagnostic of chronic granulomatous disease. A sex-linked inheritance pattern was confirmed in 1 patient by the demonstration of a heterozygous carrier state in the mother.

Child, Preschool↗
PubMed1976

Recurrence risks for retinoblastoma: a model for autosomal dominant disorders with complex inheritance.

The characteristics of retinoblastoma pertinent to genetic counseling are presented. Vogel's model for the inheritance pattern of the tumor is described and then used to derive recurrence risks for the important genetic counseling situations in retinoblastoma. The effect on the risk of the degree and number of unaffected relatives to the index case in a pedigree is quantified.

Child, Preschool↗
PubMed1999

Musculoskeletal manifestations of the Antley-Bixler syndrome.

The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. The most common skeletal deformities are radiohumeral synostosis, craniosynostosis, multiple joint contractures, and arachnodactyly. Other orthopedic manifestations that may occur are femoral bowing, ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, vertebral body anomalies, perinatal fractures, and advanced skeletal age. The inheritance pattern is thought to be autosomal recessive. A patient with this syndrome is described, which is the 18th of 24 reports published in the world literature. This case is compared with the other reported cases.

Abnormalities, Multiple↗
PubMedDate not supplied

Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits.

In 1963 Rubinstein and Taybi described a new syndrome characterized by broad thumbs and toes, facial abnormalities and mental retardation. The syndrome can be observed in the neonatal period by typical thumbs, halluces and facial abnormalities. The prevalence in the general population is unknown, however the disorder is not rare and is present in about 1:600 patients in mental retardation clinics. At the present time there is no definite inheritance pattern and recurrence is very unlikely. 18 different chromosomal anomalies have been identified in some patients with this syndrome. In this paper we identify a typical case and review the symptoms and signs of the RT syndrome and meta-analyze 732 cases.

Adolescent↗
PubMed1999

Structure-function analyses of thrombomodulin by gene-targeting in mice: the cytoplasmic domain is not required for normal fetal development.

Thrombomodulin (TM) is a widely expressed glycoprotein receptor that plays a physiologically important role in maintaining normal hemostatic balance postnatally. Inactivation of the TM gene in mice results in embryonic lethality without thrombosis, suggesting that structures of TM not recognized to be involved in coagulation might be critical for normal fetal development. Therefore, the in vivo role of the cytoplasmic domain of TM was studied by using homologous recombination in ES cells to create mice that lack this region of TM (TMcyt/cyt). Cross-breeding of F1 TMwt/cyt mice (1 wild-type and 1 mutant allele) resulted in more than 300 healthy offspring with a normal Mendelian inheritance pattern of 25.7% TMwt/wt, 46.6% TMwt/cyt, and 27.7% TMcyt/cyt mice, indicating that the tail of TM is not necessary for normal fetal development. Phenotypic analyses showed that the TMcyt/cyt mice responded identically to their wild-type littermates after procoagulant, proinflammatory, and skin wound challenges. Plasma levels of plasminogen, plasminogen activator inhibitor 1 (PAI-1), and alpha2-antiplasmin were unaltered, but plasmin:alpha2-antiplasmin (PAP) levels were significantly lower in TMcyt/cyt mice than in TMwt/wt mice (0.46 +/- 0.2 and 1.99 +/- 0.1 ng/mL, respectively; P <.001). Tissue levels of TM antigen were also unaffected. However, functional levels of plasma TM in the TMcyt/cyt mice, as measured by thrombin-dependent activation of protein C, were significantly increased (P <.001). This supported the hypothesis that suppression in PAP levels may be due to augmented activation of thrombin-activatable fibrinolysis inhibitor (TAFI), with resultant inhibition of plasmin generation. In conclusion, these studies exclude the cytoplasmic domain of TM from playing a role in the early embryonic lethality of TM-null mice and support its function in regulating plasmin generation in plasma.

Animals↗
PubMed1978

ABO and Rho(D) blood groups in IMSS population in the State of Nuevo León (estimation of simple and double incompatibility frequency in married couples and their offspring).

ABO and Rho (D) blood groups were studied in 61,023 people receiving medical care at the medical units or blood banks of the Instituto Mexicano del Seguro Social in the metropolitan area in the city of Monterrey, Nuevo León, so as to determine the genetical inheritance patterns that control these blood antigens, and that were used in the stimation of ABO and Rho (D) incompatibility in married couples and in births with maternal fetal incompatibility. It was found that IMSS populations, regardless of the medical units, can be considered as part of the same one and are different to those observed in blood banks. From the married couples, 28.58 percent were found to be incompatible with ABO and 7.15 percent with Rho (D); in 2.04 percent of cases, maternal fetal incompatibility had a ratio of 15.63 percent in the ABO group and 5.60 percent in the Rho (D) group. Double incompatibility was found in 0.88 percent of cases. The importance of these facts is stressed, considered as significant data for neonatologists and for those working in maternal fetal isoimmunization clinics.

ABO Blood-Group System↗