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Biomedical subjects

F Bernasconi

Publications and source records attributed to F Bernasconi.

At least 37 records · Page 2Linked to original sources
PubMed1995

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.

Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one because he was homozygous for a rare COL1A2 mutation. We investigated 35 patients with either the Silver-Russell syndrome or primordial growth retardation and their parents with PCR markers to search for uniparental disomy 7. Four of 35 patients were found to have maternal disomy, including three with isodisomy and one with heterodisomy. The data confirm the hypothetical localization of a maternally imprinted gene (or more than one such gene) on chromosome 7. It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardation.

Chromosome Aberrations↗
PubMed1995

[The treatment with intramuscular interferon of female genital condylomatosis: beta-IFN vs alfa-2a-IFN].

The authors have investigated the efficacy of i.m. therapy with interferon (IFN) in the treatment of female genital condylomatosis: 94 consecutive patients underwent a randomized therapy with two different IFNs: beta-IFN and alpha-2A-IFN (3,000.000 UI i.m. on alternate days for 4 weeks). A total and/or partial response was observed in 76.5% of cases (72/94). Observed response was unrelated with used IFN, independently of type and seat of treated lesion. There was only an important difference between the two treatments in the incidence of side-effects and drop-out (31% and 6.3% with alpha-2A-IFN and 14.8% and 2.1% with beta-IFN). Systemic therapy with IFN is a good alternative to destructive techniques in the treatment of HPV-associated pathology of female lower genital tract.

Adult↗
PubMed1995

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

Studies of uniparental disomy and origin of nonmosaic trisomies indicate that both gain and loss of a chromosome can occur after fertilization. It is therefore of interest to determine both the relative frequency with which gain or loss can contribute to chromosomal mosaicism and whether these frequencies are influenced by selective factors. Thirty-two mosaic cases were examined with molecular markers, to try to determine which was the primary and which was the secondary cell line: 16 cases of disomy/trisomy mosaicism (5 trisomy 8, 2 trisomy 13, 1 trisomy 18, 4 trisomy 21, and 4 involving the X chromosome), 14 cases of 45,X/46,XX, and 2 cases of 45,X/47,XXX. Of the 14 cases of mosaic 45,X/46,XX, chromosome loss from a normal disomic fertilization predominated, supporting the hypothesis that 45,X might be compatible with survival only when the 45,X cell line arises relatively late in development. Most cases of disomy/trisomy mosaicism involving chromosomes 13, 18, 21, and X were also frequently associated with somatic loss of one (or more) chromosome, in these cases from a trisomic fertilization. By contrast, four of the five trisomy 8 cases were consistent with a somatic gain of a chromosome 8 during development from a normal zygote. It is possible that survival of trisomy 8 is also much more likely when the aneuploid cell line arises relatively late in development.

Aneuploidy↗
PubMed1994

Intrachromosomal triplication of 15q11-q13.

A 7 year old girl with intrachromosomal triplication 46,XX,-15,+der(15)(pter-->q13::q13-->q11::q11-->qter) resulting in tetrasomy of 15q11-q13 is reported. Fluorescence in situ hybridisation confirmed that the tetrasomic region included the entire segment normally deleted in Prader-Willi and Angelman syndrome patients, and breakpoints were similar to those reported in two tandem duplications of 15q11-q13. The middle repeat was inverted, suggesting a possible origin through an inverted duplication intermediate. Microsatellite analysis showed that the rearrangement was of maternal origin and involved both maternal homologues. Clinical findings included multiple minor anomalies (a fistula over the glabella, epicanthic folds, downward slanting palpebral fissures, ptosis of the upper lids, strabismus, a broad and bulbous tip of the nose, and small hands and feet), motor and mental retardation, a seizure disorder, and limited verbal abilities. In addition, immunological examination disclosed a selective immunodeficiency. The overall phenotype did not clearly resemble that of cases with tetrasomy 15pter-q13 associated with an extra inv dup(15)(pter-->q13:q13-->pter) chromosome. The latter aberration causes more severe mental deficit and intractable seizures, but less marked phenotypic alterations, although some overlap in mild facial dysmorphic features is present. A number of features common to Angelman syndrome were also observed in the patient.

Abnormalities, Multiple↗
PubMed1994

[Subannular pseudoaneurysm of the left ventricle complicating mitral valve replacement; apropos of a case].

The authors report the case of a 72 year old woman with a Carpentier-Edwards bioprosthesis implanted in March 1981 for severe mitral stenosis, asymptomatic until 1986. The progression of effort dyspnoea with prosthetic valve dysfunction despite digitalo-diuretic therapy and severe ventricular subannular pseudoaneurysm. Doppler echocardiography and cardiac catheterisation and angiography confirmed the mitral subannular pseudoaneurysm and led to surgical cure of this fibrous structure and implantation of a mechanical mitral valve prosthesis. This complication of mitral valve replacement is a cause of pseudoaneurysm which should not be overlooked.

Aged↗
PubMed1994

[Beta-interferon treatment of HPV infections of the lower genital tract in women].

In the period 9-1989/12-1991, 47 fertile women affected by genital HPV infection have been treated with i.m. systemic beta-interferon (3 x 10 x 6 UI every other day for 4 weeks). We have noticed 1 case of drop-out (2, 1%). At the short-medium follow-up (> or = 6 months), the therapy has proved to be probably and/or certainly efficacious in 74.4% of cases (35/47). In patients with condylomas in the cervical region, the less respondent part, we have noticed a reaction in 64.3% of cases; in those who have an extra-cervical or diffused HPV infection, in 89.4%. In the patients with complete follow-up, treated with supplementary DTC if necessary, the recovery ratio reached 92.5%. The i.m. systemic therapy with beta-IFN is efficacious in the treatment of genital HPV infections: it is well tolerated and offers the possibility of obtaining a useful "therapeutic integration" with the traditional destructive physical techniques of therapy.

Adult↗
PubMed1994

Maternal uniparental disomy 22 has no impact on the phenotype.

A 25-year-old normal healthy male was karyotyped because five of his wife's pregnancies terminated in spontaneous abortions at 6-14 wk of gestation. Cytogenetic investigation disclosed a de novo balanced Robertsonian t(22q;22q) translocation. Molecular studies revealed maternal only inheritance for chromosome 22 markers. Reduction to homozygosity for all informative markers indicates that the rearranged chromosome is an isochromosome derived from one of the maternal chromosomes 22. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 22 does not seem to have an adverse impact on the phenotype, apart from causing reproductive failure. It can be concluded that no maternally imprinted genes with major effect map to chromosome 22.

Abortion, Spontaneous↗
PubMed1994

A somatic origin of homologous Robertsonian translocations and isochromosomes.

One t(14q14q), three t(15q15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated with polymorphic markers to establish the origin of the translocated chromosomes. Four cases had results indicative of an isochromosome: one t(14q14q) case with mild mental retardation and maternal uniparental disomy (UPD) for chromosome 14, one t(15q15q) case with the Prader-Willi syndrome and UPD(15), a phenotypically normal carrier of t(22q22q) with maternal UPD(22), and a phenotypically normal t(21q21q) case of paternal UPD(21). All UPD cases showed complete homozygosity throughout the involved chromosome, which is supportive of a postmeiotic origin. In the remaining four cases, maternal and paternal inheritance of the involved chromosome was found, which unambiguously implies a somatic origin. One t(15q15q) female had a child with a ring chromosome 15, which was also of probable postmeiotic origin as recombination between grandparental haplotypes had occurred prior to ring formation. UPD might be expected to result from de novo Robertsonian translocations of meiotic origin; however, all de novo homologous translocation cases, so far reported, with UPD of chromosomes 14, 15, 21, or 22 have been isochromosomes. These data provide the first direct evidence that nonmosaic Robertsonian translocations, as well as isochromosomes, are commonly the result of a mitotic exchange.

Aneuploidy↗
PubMed1993

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along chromosome 15. Paternal uniparental isodisomy was found for all informative markers in the first case which indicates that this, rather than the presence of the extra chromosome, is the cause of the Angelman syndrome phenotype. Similarly, the PWS patient showed maternal uniparental distomy with absence of PWS region material on the inv dup(15) chromosome. If (1) marker chromosomes are an occasional by product of 'rescuing' a trisomic fertilisation, or (2) if duplication of the normal homologue in a zygote which has inherited a marker in place of the normal corresponding chromosome 'rescues' an aneuploid fertilisation, or (3) if the presence or formation of a marker chromosome increases the probability of non-disjunction, then uniparental disomy might be found occasionally in other subjects with de novo marker chromosomes.

Angelman Syndrome↗
PubMed1993

[Congenital coronary-cardiac fistula. Diagnosis by color Doppler echocardiography in an infant].

The authors report the case of a 2 month old child in whom a coronary artery fistulae was diagnosed by colour Doppler echocardiography. Routine two-dimensional echocardiography showed a very dilated right coronary artery. Turbulent flow was detected in this vessel by pulsed Doppler echocardiography. Colour Doppler showed the fistulous connection to the inferior wall of the right ventricle. Until recently, this condition could only be diagnosed by selective angiography and coronary arteriography. Although there have been few reports in the literature, colour Doppler echocardiography would seem to be a significant advance in non-invasive diagnosis of abnormal connections of the coronary arteries. It allows the differential diagnosis of coronary aneurysm, ectopic coronary arteries and sinus of Valsalva aneurysms to be excluded. The patients can be followed up by colour Doppler echocardiography and anatomic information can be obtained to guide surgery, notably the site of drainage of the fistula. Coronary artery fistulae presenting clinically with a continuous murmer atypically situated for a patent ductus arteriosus are difficult to detect by conventional echocardiography and usually required cardiac catheterisation and angiography. Color Doppler echocardiography is a valuable non invasive diagnostic tool for this condition. The others report the case of a coronary artery cardiac fistula in a neonate diagnosed by color Doppler echocardiography.

Age Factors↗
PubMed1993

Nondisjunction of chromosome 15: origin and recombination.

Thirty-two cases of uniparental disomy (UPD), ascertained from Prader-Willi syndrome patients (N = 27) and Angelman syndrome patients (N = 5), are used to investigate the pattern of recombination associated with nondisjunction of chromosome 15. In addition, the meiotic stage of nondisjunction is inferred by using markers mapping near the centromere. Two basic approaches to the analysis of recombination are utilized. Standard methods of centromere mapping are employed to determine the level of recombination in specific pairwise intervals along the chromosome. This method shows a significant reduction in recombination for two of five intervals examined. Second, the observed frequency of each recombinant class (i.e., zero, one, two, three, or more observable crossovers) is compared with expected values. This is useful for testing whether the reduction in recombination can be attributed solely to a proportion of cases with no recombination at all (because of asynapsis), with the remaining groups showing normal recombination (or even excess recombination), or whether recombination is uniformly reduced. Analysis of maternal UPD(15) data shows a slight reduction in the multiple-recombinant classes, with a corresponding increase in both the zero- and one-recombinant classes over expected values. The majority, more than 82%, of the extra chromosomes in maternal UPD(15) cases are due to meiotic I nondisjunction events. In contrast, most paternal UPD(15) cases so far examined appear to have a postzygotic origin of the extra paternal chromosome.

Aneuploidy↗
PubMed1991

Plasma antioxidant vitamins and subsequent cancer mortality in the 12-year follow-up of the prospective Basel Study.

Plasma antioxidant vitamins A, C, and E and carotene were measured in a group of 2,974 men participating in the third examination of the prospective Basel Study in 1971-1973. In 1985, the vital status and mortality of all participants were assessed. A total of 204 men had died from cancer, including 68 with bronchus cancer and 37 with gastrointestinal cancer (20 with stomach cancer and 17 with large bowel cancer excluding cancer of the rectum). Overall mortality from cancer was associated with low mean plasma levels of carotene adjusted for cholesterol (p less than 0.01) and of vitamin C (p less than 0.01). Bronchus and stomach cancers were associated with a low mean plasma carotene level (p less than 0.01). Subjects with subsequent stomach cancer also had lower mean vitamin C and lipid-adjusted vitamin A levels than did survivors (p less than 0.05). After calculation of the relative risk using the Cox model with exclusion of mortality during the first 2 years of follow-up, low plasma carotene (below quartile 1) was associated with a significantly increased risk for bronchus cancer (relative risk (RR) = 1.8, p less than 0.05), low plasma levels of carotene and vitamin A with all cancers (RR = 2.47, p less than 0.01), and low plasma retinol in older subjects (greater than age 60 years) with lung cancer (RR = 2.17, p less than 0.05). Low levels of vitamin C increased the risk of stomach cancer (RR = 2.38) and gastrointestinal cancer (RR = 2.46) in older subjects, but only significantly with the inclusion of the first 2 years. The authors conclude that low plasma levels of antioxidant vitamins are associated with an increased risk of subsequent cancer mortality. This effect was stronger in men above age 60 years at blood sampling, and the effect seems to be site-specific.

Adult↗
PubMed1989

[Pulmonary embolism and disseminated intravascular coagulation after being bitten by a Bothrops lanceolatus snake. Apropos of a case].

The authors report the case of a Bothrops lanceolatus snake bite complicated by severe pulmonary embolism a few hours after admission. This thromboembolic complication developed despite heparin therapy and was followed by disseminated intravascular coagulation (DIC). Vascular thrombosis and pulmonary embolism are rare after Bothrops lanceolatus snake bite as patients are usually hypocoagulable due to DIC. In this case, the thromboembolism was probably caused by the procoagulant effect of the thrombin-like enzymes of the snake venom which may have been injected directly into the vein of a young woman taking a contraceptive pill. A specific antivenin which has recently become available fort treatment may decrease the complications of Bothrops lanceolatus snake bite.

Adult↗
PubMed1989

[Left ventricule function and sickle-cell anemia. Echocardiographic study].

The dimensions of the cardiac chambers and left ventricular function were studied by echocardiography in 40 patients with homozygous sickle cell disease (SS) and 25 patients with heterozygous sickle cell trait (12 AS, 10 SC, 3 BS) and compared with the same parameters in 30 normal subjects. Patients with homozygous SS disease had significantly larger left atrial (32.2 +/- 6.47 mm vs 26.62 +/- 5.64 mm; p less than 0.001), left ventricular (46.4 +/- 8.49 mm vs 39.97 +/- 5.29 mm; p less than 0.001) and right ventricular (17.95 +/- 5.08 mm vs 15.5 +/- 3.17 mm; p less than 0.02) dimensions: they also had higher indexed myocardial surfaces (11.48 +/- 2.36 cm2/m2 vs 8.21 +/- 1.97 cm2/m2; p less than 0.001) and indexed end diastolic left ventricular volumes (101.84 +/- 22.74 ml/m2 vs 65.05 +/- 10.81 ml/m2; p less than 0.001), a higher cardiac index (4.77 +/- 1.33 l/mn/m2 vs 3.58 +/- 1.08 l/mn/m2; p less than 0.001) and stroke volume (71.77 +/- 32.86 ml vs 49.56 +/- 13.39 ml; p less than 0.001). Peripheral resistances were significantly lower (1341 +/- 469 vs 1626 +/- 368 dynes/s/cm-5; p less than 0.01) as were the velocities of circumferential fibre shortening (VCF) (1.11 +/- 0.20 circ/s vs 1.28 +/- 0.24 circ/s; p less than 0.01). Two thirds of homozygous SS disease patients (27/40) had appearances of an anaemic heart with eccentric left ventricular hypertrophy, normal left ventricular systolic function, an increased cardiac index (5.01 +/- 1.19 l/mn/m2) and low peripheral arterial resistances.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

[Congenital diverticulum of the right ventricle apropos of a case complicated by pulmonary endocarditis].

Congenital diverticulum of the right ventricle is an extremely rare abnormality, usually discovered by chance during evaluation of a more complex cardiac malformation. We report a case of isolated diverticulum of the right ventricle in a 14-year old boy who also had pulmonary valve endocarditis secondary to acute osteomyelitis. Owing to the evolutive risks inherent in the diverticulum and to the persistence of highly mobile pulmonary valve vegetations 5 years after the initial infectious episode, surgical treatment of the lesions had to be performed. The diagnostic, evolutive and therapeutic problems raised by right ventricular diverticula are discussed.

Child↗
PubMed1985

[The course of pregnancy in a representative Swiss population (the Aarau Pregnancy and Newborn Infant Study). I. Social medicine aspects].

Excluding multiple births, a cohort of 996 Swiss mothers was interviewed upon admission to the labour ward regarding the overall course of pregnancy, illnesses, disorders, use of drugs, and nicotine and alcohol consumption. During the postnatal stay at the hospital additional information on socioeconomic background, mental and physical stress and the pattern of medical care during pregnancy was obtained. The data are presented and compared with analogous data on the entire female population of the same age group in Switzerland and with epidemiologic reviews of pregnancy events from other countries. This group of pregnant women represents a cross-section of the average mixed small town and rural population of German-speaking Switzerland. The socioeconomic conditions for motherhood appear favorable, though the percentage of women from lower socioeconomic classes was lower than in the general population. Employment during pregnancy had no influence on birthweight and neonatal morbidity, in contrast to chronic physical and emotional stress. On average the women had eight medical checkups during pregnancy.

Adolescent↗