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PubMed1988

University of California, Davis, conference: Mild hypertension.

Prevalence of "higher than normal" blood pressures in a community is inversely related to the magnitude of the elevation; the milder grades of elevation are far more prevalent. A multifactorially inherited tendency to develop hypertension is modulated by multiple environmental influences. Autonomic nervous and behavioral factors plausibly appear to contribute to the initiating mechanisms of hypertension; the associated hemodynamic changes and the resulting cardiovascular structural changes interact to perpetuate the process. The complex interaction of hypertension and atherosclerosis is further complicated by direct as well as secondary effects of antihypertensive drugs on atherogenesis. Attributable cardiovascular risk is generally proportional to the degree of hypertension across the entire range of elevated blood pressure; this kind of relationship holds also for normal versus subnormal blood pressure values. Pharmacologic lowering of blood pressure, however, does not confer proportional benefit. Thus, such lowering of blood pressure to normotensive levels does not reduce the risk level to that in the normotensive population. Therapeutic outcome is influenced by the interaction of blood pressure lowering, type of antihypertensive agents used, existing risk factors, and target organ damage. Benefits of lowering blood pressure in established mild hypertension (diastolic blood pressure greater than 95 mm Hg) are confirmed. Drug treatment of patients with lower diastolic blood pressure or with isolated elevations of systolic blood pressures continues to be controversial as does the choice of initial therapeutic agent(s). The large-scale experience of clinical trials encompassing the long-term risks and benefits of the drug treatment of mild hypertension is limited to the use of diuretics and adrenergic beta blockers. A variety of new and promising therapeutic agents for use as alternate choices for initial therapy needs to undergo comparative evaluation.

Adolescent↗

PubMed1983

Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers.

Three children with the femoral hypoplasia-unusual facies syndrome are described. Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi. The other, an infant girl who died within 24 hours after birth, had a cleft lip, which distorted some of the other features. She also had a cleft palate, as did one of the two older boys. All three children had ear defects, upper limb involvement, and rib, vertebral, lower extremity, and genitourinary tract abnormalities. The infant girl died of lung hypoplasia associated with dysplastic kidneys and widely patent ductus arteriosus. All three were infants of diabetic mothers, one mother having developed overt diabetes in the first trimester of pregnancy. A literature review of 36 reported cases of FH/UFS revealed 12 individuals who were IDMs, establishing a strong relationship of the syndrome with maternal diabetes. A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes.

Abnormalities, Multiple↗

PubMed2002

History of Meniere's disease and its clinical presentation.

The term Meniere's disease is used to define either the classic triad of vestibular and cochlear symptoms and aural pressure from known or unknown causes or its clinical variants, vestibular and cochlear Meniere's disease. Some variants evolve after years into typical forms, whereas others do not. Some symptoms (positional vertigo) have been long underestimated in previous reports. The more we study our patients and correlate clinical findings and the natural history with pathologic studies on temporal bones and laboratory research, the more we will understand Meniere's disease and its causes. Some causes have already been identified as most probable. Extrinsic factors (inflammation, trauma, otosclerosis, autoimmunity, endocrine disorders, and such) interact with congenital (genetic) and developmental intrinsic factors (primary or secondary, acquired) into a multifactorial inheritance that is, to date, the best explanation for the basis of Meniere's disease. Endolymphatic hydrops is widely accepted as the pathologic substrate, but not all hydrops seems to be progressive or becomes clinically manifest. Endolymphatic hydrops is the result of a dysfunction in the mechanism of production/absorption of endolymph, which is mainly due to defective absorptive activity of the endolymphatic duct and sac. Hyperproduction of endolymph cannot be excluded in some cases. Ruptures of the labyrinthine membranes do not satisfactorily substantiate the multiform duration, recurrence, and repetitiveness of attacks of Meniere's disease, nor do they explain the entire complex of symptoms. It seems reasonable to explain symptoms of Meniere's disease on the basis of mechanical factors (as observed in temporal bone studies) associated with biologic and biochemical factors.

Adult↗

PubMed2002

Etiology, pathophysiology of symptoms, and pathogenesis of Meniere's disease.

Endolymphatic hydrops is the pathologic feature associated with Meniere's disease. The development of endolymphatic hydrops appears to arise from multifactorial inheritance with alteration of endolymphatic homeostasis. Various factors associated with the phenomenon of hydrops include functional or anatomic obstruction of endolymphatic flow, malabsorption of endolymph, genetic anomalies, vasodilation, allergy, viral infection, and autoimmunity.

Animals↗

PubMed1998

Cerebral lateralisation and rate of maturation.

Multifactorial inheritance applied to brain development implies a large continuum of normal variation with deviation from the norm at the extremes of maturational rate. The greater population of neurons, greater arborization of neural networks and excessive synaptic density in early maturation imply that adaptability (plasticity) is a main advantage, as opposed to a deficit in adaptability associated with the reduced number of neurons, reduced connectivity and reduced synaptic density in late slow maturation. It is hypothesised that Planum Temporale (PT) asymmetry and hand-preference predict the rate of CNS maturation as does the cognitive profile on the Wechsler Adult Intelligence Scale (WAIS): PT leftward asymmetry, right-handedness and a left-hemisphere cognitive advantage signifies early fast maturation: PT rightward asymmetry, left-handedness and a right-hemisphere cognitive advantage signify late maturation, while PT symmetry and ambilaterality represent rates of maturation in between. The slower development of males implies a male predominance in disorders affecting late maturers: Developmental Dyslexia (DD) with a predominance of rightward PT asymmetry/symmetry, left-handedness and multiple functional deficits, as well as excessive regressive events confirmed on PT/MRI. Schizophrenia, hypothesised to be a disorder in late maturers, is distinguished by rightward asymmetry/symmetry. Left-handedness and DD are common as is prior delayed development supporting excessive regressive events as do the findings on PT/MRI. To reduce the risk of DD and schizophrenia requires a reduction in late maturation through the enhancement of maturational rate by optimal nutrition before and during pregnancy and later.

Adult↗

PubMed1999

Chromosome 6p-encoded HLA-DR2 determination discriminates migraine without aura from migraine with aura.

Segregation analysis indicates that migraine without aura (MWoA) and migraine with aura (MWA) have multifactorial inheritance, but involved genetic and environmental factors are largely unknown. A controlled study was performed to assess the HLA-driven liability to migraine and to verify if the heterogeneity between MWoA and MWA is HLA-linked. Forty-five migraine patients (31 MWoA, 14 MWA) and 53 healthy blood donors as controls, coming from the same geographic area, were studied. Tissue typing was performed using the standard complement-dependent microlymphocytotoxicity technique for HLA Class I and by PCR-SSP (Sequences Specific Primers) typing for HLA Class II. Data emerging from the present study showed no altered distribution for HLA Class I A, B, C antigen frequency in migraine (MWoA, MWA) if compared to the control group. HLA Class II DR2 antigen showed a decreased frequency in MWA group if compared with both MWoA (p = 0.01) and control group (p = 0.039, RR = 0.21). These results seem to support the hypothesis of a protective role of DR2 antigen in MWA and provide additional basis for the proposed difference within MWoA and MWA.

Adult↗

PubMed1986

Study on abnormalities in the appearance of finger and palm prints in children with cleft lip, alveolus, and palate.

The aetiology of abnormalities in the appearance of finger and palm prints in children with cleft lip, alveolus, and palate was examined by comparing the frequencies of abnormalities in hereditary cases and sporadic cases, and those in hereditary cases with those in their parents. The following results were obtained: Comparison of hereditary cases and sporadic cases. Abnormalities in the appearance of finger and palm prints were greater in hereditary cases than in sporadic cases. Abnormalities in the appearance of finger and palm prints were greater in parents of hereditary cases than in parents of sporadic cases. The rate of agreement in the appearance of finger and palm prints between parents and children was greater in hereditary cases than in sporadic cases. Comparison within hereditary cases. Abnormalities in the appearance of finger and palm prints were greater in affected children when one of the parents was affected (gamma = 1/2) than when both parents were normal (gamma = less than 1/2). Abnormalities in the appearance of finger and palm prints were greater in parents, one of whom was affected, than in normal parents. The rate of agreement in the appearance of finger and palm prints of parents, one of whom was affected, and their gamma = 1/2 children cases was higher than of normal parents and their gamma = less than 1/2 children. It was concluded that the above results could be explained by multifactorial inheritance.

Adolescent↗

PubMed1997

Familial occurrence of moyamoya disease.

There is extensive evidence that Moyamoya disease has a tendency for multifactorial inheritance, although the pathogenesis of Moyamoya disease is not clear. The authors report five cases showing familial occurrence of Moyamoya disease and analyse its clinical characteristics. In the past 15 years, we have encountered 68 cases of Moyamoya disease. Among these, 14 cases (10 females and four males, five family pedigrees, asymptomatic 1 case) of familial occurrence were observed. In this series, mother-to-child inheritance was observed in five cases, although there were no cases showing father-to-child inheritance. Ten patients were children with an initial onset of cerebral ischemia, at a mean age of 9.7 years. One mother was asymptomatic and two mothers had a past history of cerebral ischemia. Only one patient was a 37-year-old woman with clinical onset of intracerebral hemorrhage. There were no specific clinical characteristics in familial Moyamoya disease compared with those in sporadic Moyamoya disease.

Adult↗

PubMed1987

Genetic aspects of congenital malformations.

Ninety percent of congenital malformations are wholly or partly genetic in aetiology. They may arise from single gene mutations, multifactorial inheritance or chromosomal abnormalities. The single gene malformation syndromes are especially important to identify as they may carry a high recurrence risk. Further understanding of the genetic mechanisms of human malformation may come from high resolution cytogenetics and the recombinant DNA technology. One particularly exciting new development is the sequencing of genes responsible for embryological development in lower animals and finding that homologous gene sequences are also present in man.

Chromosome Aberrations↗

PubMed1996

Cryptic physiological trophic support of motoneurons by LIF revealed by double gene targeting of CNTF and LIF.

BACKGROUND: The survival and differentiation of motoneurons during embryonic development, and the maintenance of their function in the postnatal phase, are regulated by a great variety of neurotrophic molecules which mediate their effects through different receptor systems. The multifactorial support of motoneurons represents a system of high security, because the inactivation of individual ligands has either no detectable, or relatively small, atrophic or degenerative effect on motoneurons. RESULTS: Leukaemia inhibitory factor (LIF) has been demonstrated to support motoneuron survival in vitro and in vivo under different experimental conditions. However, when LIF was inactivated by gene targeting, there were no apparent changes in the number and structure of motoneurons and no impairment of their function. The slowly appearing, relatively mild degenerating effects in motoneurons that resulted from ciliary neurotrophic factor (CNTF) gene targeting were substantially potentiated by simultaneous inactivation of the LIF gene, however. Thus, in mice deficient in LIF and CNTF, the degenerative changes in motoneurons were more extensive and appeared earlier. These changes were also functionally reflected by a marked reduction in grip strength. CONCLUSIONS: Degenerative disorders of the nervous system, in particular those of motoneurons, may be based on multifactorial inherited and/or acquired defects which individually do not result in degenerative disorders, but which become apparent when additional (cryptic) inherited disturbances or sub-threshold concentrations of noxious factors come into play. Accordingly, the inherited inactivation of the CNTF gene in a high proportion of the Japanese population may represent a predisposing factor for degenerative disorders of motoneurons.

Animals↗

PubMed1998

Clinical management of impacted maxillary canines.

Ectopic eruption and impaction of canines is a frequently encountered clinical problem. The incidence of impaction ranges between 1% and 3%. The cause of canine impaction can be the result of localized factor(s) or can be a polygenic multifactorial inheritance and associated with other dental anomalies. There are a number of possible sequelae to canine impactions, ranging from loss of space in the arch to resorption of the roots of the neighboring teeth. Although the management of the ectopically erupting teeth necessitates the combined expertise of a number of clinicians, the orthodontist should have the primary responsibility of coordinating these efforts to provide the patient with the optimal treatment options with the most stable and favorable outcome.

Bicuspid↗

PubMedDate not supplied

Linkage of an X-chromosome cleft palate gene.

Many congenital malformations, such as cleft palate and neural tube defects, have a multifactorial origin involving both environmental and genetic factors. Conditions such as these may be exclusively monogenic, polygenic or environmental, but in most cases both genetic and environmental factors are involved. This study describes the sub-chromosomal localization of a single gene defect causing cleft palate and ankyloglossia (tongue-tied) in a large Icelandic family. This defect is a model for the analysis of other neural-crest malformations that show a more complex multifactorial inheritance pattern.

Cleft Palate↗

PubMed2005

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.

Prenatal trisomy 7 is usually a cell culture artifact in amniocytes with normal diploid karyotype at birth and normal fetal outcome. In the same way, true prenatal trisomy 7 mosaicism usually results in a normal child except when trisomic cells persist after birth or when trisomy rescue leads to maternal uniparental disomy, which is responsible for 5.5-7% of patients with Silver-Russell syndrome (SRS). We report here on the unusual association of SRS and Hirschsprung's disease (HSCR) in a patient with maternal uniparental heterodisomy 7 and trisomy 7 mosaicism in intestine and skin fibroblasts. HSCR may be fortuitous given its frequency, multifactorial inheritance and genetic heterogeneity. However, the presence of the trisomy 7 mosaicism in intestine as well as in skin fibroblasts suggests that SRS and HSCR might possibly be related. Such an association might result from either an increased dosage of a nonimprinted gene due to trisomy 7 mosaicism in skin fibroblasts (leading to SRS) and in intestine (leading to HSCR), or from an overexpression, through genomic imprinting, of maternally expressed imprinted allele(s) in skin fibroblasts and intestine or from a combination of trisomy 7 mosaicism and genomic imprinting. This report suggests that the SRS phenotype observed in maternal uniparental disomy 7 (mUPD(7)) patients might also result from an undetected low level of trisomy 7 mosaicism. In order to validate this hypothesis, we propose to perform a conventional and molecular cytogenetic analysis in different tissues every time mUPD7 is displayed.

Adult↗

PubMed1993

Maxillary canine-first premolar transposition, associated dental anomalies and genetic basis.

Maxillary canine-first premolar (Mx.C.P1) transposition, an uncommon dental anomaly involving positional interchange of the two teeth, was studied using a sample of 43 subjects with the abnormality. Data were recorded on sidedness, sex, race, tooth agenesis, and peg-shaped maxillary lateral incisors for each case. Mx.C.P1 transposition occurred bilaterally in nearly one-quarter of the sample and favored female expression (sex ratio, M1:F3.8) and left-side occurrence (61% of unilateral cases). Familial occurrence was noted, as was a predilection for white subjects. Tooth agenesis (excluding third molars) and/or peg-shaped maxillary lateral incisors accompanied Mx.C.P1 transposition in 49% (21) of the subjects, four to ten times the normal rate of occurrence. Data from this study and the analysis of previously published cases provided strong evidence that Mx.C.P1 transposition is a disturbance of tooth order and eruptive position resulting from genetic influences within a multifactorial inheritance model.

Adolescent↗

PubMed1994

The palatally displaced canine as a dental anomaly of genetic origin.

Palatal displacement of the maxillary canine tooth is a positional variation thought generally to develop as a result of local factors, such as retained deciduous canines, anomalous permanent lateral incisors, or dental crowding. This article contributes biologic evidence pointing to genetic factors as the primary origin of most palatal displacements and subsequent impactions of maxillary canine teeth. Data gathered from multiple sources are integrated to support a genetic etiology for the palatally displaced canine (PDC) on the basis of five evidential categories: 1. Occurrence of other dental anomalies concomitant with PDC; 2. Bilateral occurrence of PDC; 3. Sex differences in PDC occurrence; 4. Familial occurrence of PDC; 5. Population differences in PDC occurrence. From analysis of available evidence, the PDC positional anomaly appears to be a product of polygenic, multifactorial inheritance.

Cuspid↗

PubMed2001

Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis.

BACKGROUND: Atopic dermatitis has been seen to result from multifactorial inheritance, with interaction between genetic and environmental factors. The genetic association may differ according to the ethnic backgrounds. OBJECTIVE: The purpose of this study was to investigate the genetic factors in Korean atopic dermatitis patients by studying the human leucocyte antigen (HLA) class I association and polymorphisms of transporters associated with antigen presentation (TAP) and low-molecular-weight polypeptide (LMP) genes. METHODS: HLA-A and B genotyping was performed in 53 atopic dermatitis patients and 184 healthy controls using the standard microlymphocytotoxicity technique. TAP1, TAP2, LMP2, and LMP7 gene polymorphisms were anaylzed using the polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP), PCR-amplification refractory mutation system (ARMS), and PCR-restriction fragment length polymorphism (RFLP). RESULTS: Allele frequency of HLA-A24 was significantly increased in patients with atopic dermatitis compared to controls (P < 0.05). HLA-B alleles showed no differences in distribution between patients and controls. Genotype, phenotype, and allele frequencies of TAP1 gene also revealed no differences in distribution between patients and controls. Analysis of TAP2 gene polymorphisms showed increased frequencies of the TAP2*C allele and TAP2*A/TAP2*C genotype in atopic dermatitis patients compared to controls (P < 0.05). Distribution of LMP2 and LMP7 gene polymorphisms was similar for patients and controls. CONCLUSION: This study demonstrates an association of atopic dermatitis with HLA-A24 and TAP2*C alleles in Korean patients. Discrepancy with the previous reports might be related to different patient characteristics and ethnic variations.

ATP Binding Cassette Transporter, Subfamily B, Mem↗

PubMed2002

The genetic epidemiology of psoriasis vulgaris in Chinese Han.

BACKGROUND: The aim of this study was to explore the effects of genetic factors on the onset of psoriasis vulgaris and to develop a possible genetic model of psoriasis in Chinese Han. METHODS: Data for 1043 patients with psoriasis vulgaris were obtained by questionnaire. Complex segregation analysis and heritability were performed using Penrose's method, Falconer's method, and the EPI INFO 6.0 and SAGE-REGTL programs. RESULTS: (1) For male and female patients, the peak ages of initial onset were 30-39 and 10-19 years, respectively, with the mean age of initial onset being 27.69 +/- 12.32 years in males and 23.26 +/- 12.56 years in females. (2) Of 1043 patients with psoriasis, 326 (31.26%) were reported to have a family history of psoriasis. The onset for males with a family history of psoriasis was earlier than that for those without a family history (P < 0.01). The morbidities of first-degree relatives were 7.67% in patients with type I psoriasis and 5.27% in patients with type II (P < 0.01), and those of second-degree relatives were 1.04% in type I and 0.24% in type II (P < 0.01). (3) The onset of psoriasis was earlier in females than in males in type I psoriasis (P < 0.01), but this was not the case in type II (P > 0.05). (4) The prevalence of psoriasis in first- and second-degree relatives of the proband with psoriasis was 7.24 and 0.95%, respectively; higher than that in the general population (0.146%). (5) The heritability of psoriasis in first- and second-degree relatives was 67.04 and 46.59%, respectively. The Mendelian, no-major-gene and environment model was rejected by complex segregation analysis. CONCLUSION: Psoriasis vulgaris follows a pattern of polygenetic or multifactorial inheritance rather than single-gene inheritance.

Adolescent↗

PubMed2000

Moyamoya disease.

Moyamoya disease is a specific chronic cerebrovascular occlusive disease first reported by Japanese surgeons in 1957. The disease is characterized by stenosis or occlusion of the terminal portions of the bilateral internal carotid arteries and abnormal vascular network in the vicinity of the arterial occlusion. It may cause ischemic attacks or cerebral infarction, which is more frequent in children than in adults. In adults, cerebral hemorrhage may occur. The disease is distributed in all age groups, but the highest peak is in childhood at less than 10 years of age. The characteristic histopathologic features of the steno-occlusive arteries are fibrocellular thickening of the intima containing proliferated smooth muscle cells and prominently tortuous and often duplicated internal elastic lamina. There is usually no atheromatous plaque in the arterial wall. Etiology of the disease is still unknown; however, multifactorial inheritance is considered possible because of a higher incidence of the disease in Japanese and Koreans and approximately 10% of familial occurrence among the Japanese. Recent genetic studies suggest some responsible genetic foci in chromosomes 3, 6 and 17.

Carotid Artery, Internal↗