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PubMed1985

Paternalism modernised.

The practice of paternalism has changed along with developments in medicine, philosophy, law, sociology and psychology. Physicians have learned that a patient's values are a factor in determining what is best for that patient. Modern paternalism continues to be guided by the principle that the physician decides what is best for the patient and pursues that course of action, taking into account the values and interests of the patient. In the autonomy model of the doctor-patient relationship, patient values are decisive. In the paternalistic model, they are but one among several factors the physician must consider in making a medical decision. Although difficult to practise because of limitations in empathising with another person, modern paternalism remains a way to achieve maximum patient benefit.

Beneficence↗

PubMed1998

Paternity assessment in rhesus macaques (Macaca mulatta): multilocus DNA fingerprinting and PCR marker typing.

Establishing kinship relations in primates using modern molecular genetic techniques has enhanced the ability to scrutinize a number of fundamental biological issues. We screened 51 human short tandem repeats (STRs) for cross-species PCR amplification in rhesus macaques (Macaca mulatta) and identified 11 polymorphic loci with heterozygosity rates of at least 0.6. These markers were used for paternity testing in three social groups (M, R, and S) of rhesus macaques from Cayo Santiago, Puerto Rico. Several consecutive birth cohorts were analyzed in which approximately 200 males were tested for paternity against more than 100 mother/ infant pairs. Despite a combined exclusion rate of more than 99.9% in all three groups, some cases could not be solved unequivocally with the STR markers and additional testing of the MHC-associated DQB1 polymorphism. A final decision became possible through multilocus DNA fingerprinting with one or more of the oligonucleotide probes (GATA)4, (CA)8, and (CAC)5. Paternity assessment by multilocus DNA analysis with probe (CAC)5 alone was found to have limitations in rhesus macaques as regards the number of potential sires which might be involved in a given case. Multilocus DNA fingerprinting requires large amounts of DNA, and the ensuing autoradiographic patterns present difficulties in comparisons across gels and even within the same gel across remote lanes. Computer-assisted image analysis was incapable of eliminating this problem. Therefore, a dual approach to DNA typing has been adopted, using STR markers to reduce the number of potential sires to a level where all remaining candidates can be tested by multilocus DNA fingerprinting on a single gel, preferably in lanes adjacent to the mother/infant pair.

Animals↗

PubMed2005

Paternal organic solvent exposure and adverse pregnancy outcomes: a meta-analysis.

BACKGROUND: Organic solvents are widely used, but conflicting reports exist concerning paternal exposure and adverse pregnancy outcomes. We conducted a meta-analysis to assess the risks of spontaneous abortions (SAs) and major malformations (MMs) after paternal exposure to organic solvents. METHODS: Medline, Toxline, Reprotox, and Embase from 1966 to 2003 were searched. Two independent reviewers searched for cohort and case-control studies in any language on adult human males exposed chronically to any organic solvent. Two non-blinded independent extractors used a standardized form for data extraction; disagreements were resolved through consensus discussion. RESULTS: Forty-seven studies were identified; 32 exclusions left 14 useable studies. Overall random effects odds ratios and 95% confidence intervals (CI95%) were 1.30 (CI95%: 0.81-2.11, N=1,248) for SA, 1.47 (CI95%: 1.18-1.83, N=384,762) for MMs, 1.86 (CI95%: 1.40-2.46, N=180,242) for any neural tube defect, 2.18 (CI95%: 1.52-3.11, N=107,761) for anencephaly, and 1.59 (CI95%: 0.99-2.56, N=96,517; power=56.3%) for spina bifida. CONCLUSIONS: Paternal exposure to organic solvents is associated with an increased risk for neural tube defects but not SAs.

Abnormalities, Drug-Induced↗

PubMed1995

Childhood cancer and paternal exposure to ionizing radiation: a second report from the Oxford Survey of Childhood Cancers.

Paternal occupational data already collected as part of the Oxford Survey of Childhood Cancers have been reviewed. Information on paternal occupation was available for 14,869 children dying from cancer in England, Wales, and Scotland in the period 1953-81 and for an equal number of matched controls. The importance of fathers working, at any time before or after conception of the survey child, in any of the following occupations was assessed: radiologists (clinical), surgeons and anesthetists, veterinary surgeons, dental surgeons, nuclear industry workers, industrial radiographers. There was no indication that preconception employment in any of these occupations was more important than postconception employment with regard to the risks of all childhood cancers or all childhood leukemias. Findings were consistent with neither paternal preconception exposure to external ionizing radiation nor exposure to unsealed sources of radionuclides being an important risk factor for childhood leukemia or for the overall grouping of all childhood cancers.

Case-Control Studies↗

PubMed1983

Chromosome heteromorphism analysis in cases of disputed paternity.

Blood test results, using standard procedures, failed to exclude the alleged father as the biological father of a child in a case of disputed paternity. Using 21 different systems, the probability of exclusion for the man was 98.19%, and the probability of paternity was only 93.90% with a paternity index of 15.48. Chromosome heteromorphisms of all three individuals were studied. By comparison of fluorescent markers of chromosomes 13, 14, 15, 21, and 22, the child was shown to inherit one homologue of each of these chromosomes from the mother, but none were like the heteromorphisms of the alleged father. This excluded him as the biological father.

Blood Group Antigens↗

PubMed1993

Paternal age as a risk factor for Down syndrome.

Although the effect of maternal age as a risk factor for Down syndrome (DS) is well known, the role of paternal age in the cause of DS has not been clearly established. To investigate this phenomenon we conducted a case-control study between July 1989 and February 1990. The cases were 318 children and teenagers with DS studied at the Specialized Educational Institutions of Lima City, Perú. They were paired with 1,196 control individuals that were selected from the birth records of 2 general hospitals of the city. For each case we tried to obtain 4 controls, paired by their date of birth, sex, and maternal age. The means of paternal age in the 2 groups were compared, first globally and then by groups of maternal age (< 21 years, 21-29 years, 30-34 years, 35-39 years and > 39 years). None of the comparisons gave a statistically significant difference between the 2 groups, using either the Student t-test or the Mann-Whitney U-test. The results obtained in this study give no evidence that paternal age can be considered a risk factor for the conception of a child with DS.

Adult↗

PubMed1994

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late-onset mild seizures; as they grew older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients.

Adult↗

PubMed2006

Male competition and paternity in wild chimpanzees of the Taï forest.

In social animals, competition among males for mates affects individual reproductive success. The priority-of-access model attempts to account for the influence of demographic conditions within groups upon male reproductive success, but empirical data for testing this model are scarce. Our long-term study of chimpanzees in the Taï National Park, Côte d'Ivoire, encompasses a period of steady decrease in community size and fluctuating numbers of competing males and sexually receptive females. These demographic changes, in combination with genetic assessment of paternity for 48 offspring from three communities, allowed us to quantify the effects of varying levels of competition upon male reproductive success. On average, the highest-ranking male sired 50% of all analyzed offspring during a 14-year period from 1987-2000. Competition among males strongly decreased the relative reproductive success of the alpha male, such that the alpha male's rate of success decreased from 67% with few competitors to only 38% with four or more competitors. The increasing number of synchronously receptive females in large groups also reduced the proportion of paternities by the alpha male. Thus, patterns of paternity in Taï chimpanzees fit well the predictions of the priority-of-access model. We also found that despite the inability of dominants to monopolize reproduction, they achieved a higher reproductive rate in large multimale groups, because these have more females and a higher infant survival rate. Varied levels of male competition within communities seem to explain differences in the reproductive success of alpha males observed in different chimpanzee populations, and in other primate species.

Age Factors↗

PubMedDate not supplied

On paternity determination from multilocus DNA profiles.

Various approaches have been worked out to calculate the probability of paternity from DNA multilocus profiles. Despite promising results, the application and practicability of these approaches are often restricted (due to, e.g., the equality assumption of the a priori probabilities by using Bayes' theorem, no allowance of mutations, etc). Here we present two methods for paternity determination, one of which is an extension of the well-known procedure of Evett et al. J. Forens. Sci. Soc. 1988, 28, 249-254. These methods depend on fewer assumptions and therefore may be applied to a wide spectrum of disputed paternity cases.

DNA↗

PubMed1992

Sensitivity of transmission probabilities to paternity exclusion in segregation analysis.

Paternity exclusions are known to be common in Western countries and are yet neglected in segregation analysis because it is almost impossible to check it systematically on a large family sample. We had the opportunity of observing the sensitivity of segregation analysis parameters to a paternity exclusion in analyzing 34 families for a simple Mendelian trait, the acetylator phenotype. We found that only one family, with proven paternity exclusion, was responsible for a strong rejection of Mendelian transmission probabilities (P much much less than 0.001).

Acetyltransferases↗

PubMed1993

False non-paternity in a family for prenatal diagnosis of beta-thalassaemia.

Initial screening for the common beta-thalassaemia mutations with allele-specific oligonucleotide probes in an at-risk family suggested non-paternity. Subsequent DNA fingerprinting of the members proved otherwise. The mother had a codon 41/42 frameshift mutation and the father's defect, determined by direct sequencing of PCR-amplified beta gene, was a codon 43 nonsense mutation. In the affected children, the close proximity of these two defects resulted in the absence of a hybridization signal to the normal probe in that region and a wrong assumption of homozygosity for the codon 41/42 mutation. The non-reactivity of the father's amplified DNA to the codon 41/42 thalassaemic probe accounted for the initial wrong conclusion of non-paternity. Since prior screening for beta-thalassaemia mutations is done in all prenatal diagnosis programmes and concomitant inheritance of these two defects is relatively common in the Chinese, this 'artefact' of false non-paternity is worth noting.

Adult↗

PubMed1993

Paternity testing of endangered species of birds by DNA fingerprinting with non-radioactive labelled oligonucleotide probes.

In the last years, DNA fingerprinting became the most powerful tool for identification and paternity testing in man. The success of this method encouraged the German Federal Ministry of Environment, Natural Protection and Reactor Safety to apply DNA fingerprinting in the field of protection of endangered species of birds, such as birds of prey or parrots. In the last three years, we received more than 400 blood and tissue samples of 23 species of birds of prey or parrots, most of them obtained by confiscation, to establish paternity and legal breeding success. We used digoxigenated oligonucleotide probes, mainly (GGAT)4 and (GACA)4 for hybridization. In most cases of confiscated families of birds, paternity testing showed exclusions of nestlings.

Animal Husbandry↗

PubMed1992

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.

An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10(-4) per gamete per generation. The molecular basis for frequent NF1 mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred on the paternally-derived chromosome. The probability of observing this result by chance is less than 0.001 assuming an equal frequency of mutation of paternal and maternal NF1 genes. We hypothesize a role for genomic imprinting that may either enhance mutation of the paternal NF1 gene or confer protection from mutation to the maternal NF1 gene.

Chromosomes, Human↗

PubMed1988

Further evidence of a silent plasminogen (PLG) allele in two paternity cases.

Routine paternity testing has yielded two different cases of an apparent inverse homozygosity in the plasminogen (PLG) system. In one case, the child presented the phenotype PLG A and his putative father the type PLG B. The alleged father could not be excluded from the paternity in 25 additional blood group marker systems (biostatistical probability of paternity W greater than 99.75%). In the other case an incompatibility was found in a mother- child pair. Analysis of PLG was carried out by isoelectric focusing on neuraminidase-treated sera. In both cases the immunologic and functional detection showed weaker banding pattern of the affected PLG types. The assumption of a silent allele in the PLG system was confirmed by quantitative investigations. The allele frequency of PLG*Q0 in the South German population was estimated to be 0.0013. In the same sample the variant PLG A3 has been shown to be polymorphic.

Alleles↗

PubMed1992

Reduced recombination and paternal age effect in Klinefelter syndrome.

The parental origin of the additional sex chromosome was studied in 47 cases with an XXY sex chromosome constitution. In 23 cases (49%), the error occurred during the first paternal meiotic division. Maternal origin of the additional chromosome was found in the remaining 24 cases (51%). Centromeric homo- versus heterozygosity could be determined in 18 out of the 24 maternally derived cases. According to the centromeric status and recombination rate, the nondisjunction was attributable in 9 cases (50%) to an error at the first maternal meiotic division, in 7 cases (39%) to an error at the second maternal meiotic division and in 2 cases (11%) to a nullo-chiasmata nondisjunction at meiosis II or to postzygotic mitotic error. No recombination, and in particular none in the pericentromeric region, was found in any of the 9 cases due to nondisjunction at the first maternal meiotic division. Significantly increased paternal age was found in the paternally derived cases. Maternal age was significantly higher in the maternally derived cases due to a meiotic I error compared with those due to a meiotic II error. There were no significant clinical differences between patients with respect to the origin of the additional X chromosome.

Adult↗

PubMed1987

An analysis of paternal age and 47,+21 in 35,000 new prenatal cytogenetic diagnosis data from the New York State Chromosome Registry: no significant effect.

In 35,680 fetuses of women who had prenatal cytogenetic diagnosis done upon amniotic fluid specimens obtained during 2nd trimester amniocentesis and in whom there was no increased cytogenetic risk except for age, there was no statistically significant evidence for an increase of 47,+21 at any paternal age after adjustment for maternal age. The ratio of observed-to-expected numbers in fathers less than 30 years old was 1.0 and in fathers 40 years or older was 0.9 when compared with numbers derived from maternal-age-specific rates in men 30-39 years old. The ratio was 1.1 for those younger than 34 years when compared with rates in fathers aged 34-39 years old. Only for men 55 years or older was there any, even suggestive, increase. The ratio was roughly 1.5 (9 observed to about 6 expected). This was not statistically significant, and moreover, the increase such as it was, was in men married to women 37-42 years old. Regression analyses using several additive parental age models introducing a parabolic function for paternal age, failed to reveal any paternal age contribution.

Adult↗

PubMed1993

Prenatal paternity testing with DNA analyses.

Two PCR amplified loci and 3 single locus DNA probes were applied in a paternity case in which a married woman became pregnant after being raped. DNA analysis were performed using samples from the woman, her husband and amniotic fluid cells taken during the 16th week of pregnancy. The combined probability of paternity for her husband was calculated as 0.999997107. The application of PCR analyses and single locus DNA probes were considered to be extremely informative in prenatal paternity testing.

Amniotic Fluid↗

PubMed1991

DNA investigations on fetal material from paternity cases.

Three paternity cases have been investigated where DNA was extracted from fetuses (age: 8-10 weeks old) after interruption of pregnancy. In each case it was possible to clearly identify the putative father using 5 or 6 single locus probes (SLP's). Fetal bands (SLP) could be clearly identified from mixtures of placental and fetal DNA by comparison with the maternal and paternal bands. However, it was very difficult to resolve the fragment patterns of tissue mixtures with one multi locus probe (MLP), because of band overlap. Another advantage of using SLP's was that biostatistical calculations could be carried out and very informative Essen-Möller values for the probability of paternity were obtained.

Abortion, Therapeutic↗