Time trade-off study to establish utility decrements in individuals with a spinal cord injury who perform intermittent catheterization.

AIMS: To generate utility decrements for three attributes associated with catheterization for individuals with a spinal cord injury (SCI): the process of catheterization, the physical impact of urinary tract infections (UTIs) and worry associated with hospitalization. MATERIALS AND METHODS: Health state vignettes comprising various levels of the three attributes were developed. Two cohorts of respondents, corresponding to people with SCIs and a sample broadly representative of the UK population, were presented with nine vignettes (three vignettes for the mild, moderate and severe health states in addition to a random set of six vignettes). It was assumed no or a nominal decrement was associated with the mild health state. Utility decrements were derived from analysing the data obtained from the online time trade-off (TTO). A proportion of the SCI cohort (n = 57) also completed the EQ-5D-5L questionnaire. RESULTS: Utility decrements were generated using statistical models for the general population (n = 358), the SCI population (n = 48) and the two populations combined (merged model, n = 406). Results from the two cohorts showed minimal differences. For the merged model, SCI status was not statistically significant. All interaction terms, excluding SCI and the severe level of the physical attribute, were not statistically significant. Compared to the mild level, the greatest utility decrement calculated was the severe level of the emotional (worry) attribute (0.09, p < .001) for the SCI population. A significant decrement of 0.02 (p < .001) was calculated for the moderate level of the emotional attribute for all models. The mean utility score for those with SCI having completed the EQ-5D-5L was 0.371. LIMITATIONS: Modest sample size of respondents from the SCI population (n = 48). CONCLUSIONS: Worry associated with hospitalization had the greatest impact on patients' health-related quality of life (HRQoL). The catheterization process, such as the lubrication and repositioning of the catheter, also impacted on patients' HRQoL.

A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis.

A man with a balanced translocation between chromosomes 3 and 9 associated with primary hypogonadism and dorsal spine stenosis is reported. The possible significance of this chromosomal abnormality is discussed.

Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues. The few abnormal features seen in the fetus may represent a mild expression of the 18p-- phenotype inhibiting the effects of the trisomy 18q.

Further examples of trisomy-20 mosaicism in amniotic cell cultures.

Amniotic fluid cultures from two patients showed trisomy-20 mosaicism. No trisomy-20 cells were found in a normal full term infant and in multiple tissue biopsies and fetal blood from a fetus after a termination of pregnancy. No definitive advice is yet possible for parents where trisomy-20 amniotic cell mosaicism is detected. Fetoscopy and fetal blood sampling are of no value and termination of pregnancy is not indicated by empirical evidence. Preferential trophoblastic non-disjunction (Kalousek and Dill, 1983) is discussed as a possible partial explanation for the variable occurrence and distribution of this type of mosaicism.

Prenatal diagnosis and outcome of pregnancy in 2036 women investigated by amniocentesis.

The report presents the indications for prenatal diagnosis, the results from amniocentesis and details of outcome of pregnancy in 2036 women. Aneuploidy was found in 26 fetuses (1.3%) including 16 with trisomy 21 and 9 sex chromosome abnormalities. There were 38 balanced chromosomal rearrangements (1.9%): 23 of these (1.1%) were pericentric inversions of a number 9 chromosome. Only two of the chromosomal abnormalities were found in other than those mothers referred for maternal age of 35 or over. Concern is expressed at the low referral rate for older mothers in the population served (only 25% of those over 40 years). Failure of amniotic cell culture occurred in 2.8% of cultures. Maternal cell contamination was detected in 23 cultures (1.1%) with four errors in reported fetal sex. Total error estimate was 0.5%. There were 20 in vitro artefacts (1.0%) with no reporting errors. Neural tube defects were identified in 28 fetuses and there were three false-positive and one false-negative results. Data on outcome of pregnancy was available from 1805 pregnancies (96.5%): 1295 were normal (71.7%) and 510 (28.3%) showed some abnormality. Pregnancy was terminated for fetal abnormality in 53 cases (2.9%) and fetal loss occurred in 65 (3.7%). Methods, quality control, safety and service considerations are discussed. It is suggested that amniocentesis should be restricted to centres where the greatest expertise is available. The service should be improved to meet the needs of a greater number of patients. The series is compared with other studies of over 1500 cases.

A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling.

A paracentric inversion in the long arm of a number 7 chromosome was detected in an amniotic cell culture from a 41 year old woman, screened because of maternal age. The karyotype was 46, XX, inv(7) (q11q22). Her husband carried an identical inversion. The parents were advised that the pregnancy should continue and a healthy infant was born at term. Prenatal diagnosis and counselling for paracentric inversion heterozygotes are discussed in the light of published and unpublished cases.

A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Examination and assessment of 140 liveborn and stillborn infants referred within two weeks of birth for chromosome analysis showed that 48 had Down's syndrome, 12 other chromosome abnormalities, 17 single gene disorders, 18 recognisable anomalads, 8 recognisable syndromes of unknown aetiology, and the remainder were undiagnosed. Of the non-Down's cases that were diagnosed, 21% had a chromosomal abnormality. These results suggest that a request for chromosome analysis in the newborn period should be viewed as one step in syndrome identification.

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

Two cases of interstitial deletion of chromosome 7 are presented, one involving the short arm and the other the long arm. The cytogenetic, dermatoglyphic, and clinical findings are compared with previously reported cases of chromosome 7 deletion. The patient with a short arm deletion differs clinically from the previously reported cases but, in common with a least one previous case, has a low total finger ridge count. His interstitial deletion involving the 7p13 leads to 7p21 region also differs from 7p deletions reported in earlier cases. The patient with a long arm deletion has an interstitial loss of the region between 7q11 and 7q21, corresponding to one of three groups of 7q deletion that have been recognised. The phenotypic changes in this group are less well defined than in the other two and the patient presented here differs clinically from the previously reported cases, apart from one phenotypically normal mosaic case, in lacking morphological abnormalities. He shares with one previous case both epilepsy and a high intensity of dermal ridge patterns.

11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation.

A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared with each other and with reported examples. Moreover, 11q break points are discussed.

Trisomy 16q arising from a maternal 15p;16q translocation.

Trisomy 16q is reported in a malformed infant who died at 12 days of age. The karyotype was 46,XX,der(15)t(15;16) (p11;q11)mat. A balanced translocation was found in the mother. The consequences of various types of aneuploidy of chromosome 16 are discussed.

Segregation of ABO, AK1 and ACONs in families with abnormalities of chromosome 9.

Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.

A family with syndactyly type II (synpolydactyly).

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation. The diagnostic significance of minimal features of the condition is discussed. Linkage data suggest that loci for Syndactyly II and for blood-group antigens ABO, MNSs, P, Rh and Kell are not closely linked.

Recurrent abortion associated with a balanced 22;22 translocation, or isochromosome 22q in a monozygous twin.

A 45,XX,t(22;22)(p11;q11) or 45,XX,i(22q) chromosomal rearrangement was found in a woman with a history of recurrent abortion. A twin sister did not have the translocation even though marker studies indicate that the twins are probably monozygotic.

An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.

An etiological survey is presented of all suveryl retarded children living in Hertfordshire, at home and in residential care, born between January 1, 1965, and December 31, 1967. One hundred and forty-six children (87 boys and 59 girls) were ascertained, out of a total population of 46,960, with a prevalence of 1 in 320 or 3.1 per 1,000. Approximately 1/3 (47) had the Down syndrome, 1 per 1,000 population. It was possible to establish a diagnosis in a further 45 cases, which included 1 additional case of autosomal chromosome abnormality and 7 each of autosomal dominant, recessive and X-linked conditions; 17 were associated with presumed multifactorial etiological factors; in 6 the condition was thought to have been caused by an environmental agent. It was not possible to establish a cause in the remaining 54 cases. Recurrence risks of severe mental retardation in cases where it is possible to establish a definite diagnosis are discussed and the potential value, for genetic counseling purposes, of a categorizing such patients into broad symptomatological groups, is suggested.