32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large family there was clear evidence of linkage to markers on chromosome 16p13.3 (lodscore with D16S291 of 4.7 at theta = 0) but other families were too small to give individually convincing lodscores. Combined results for all families gave positive results with ABO/DBH on chromosome 9 (max lod 2.63) and with D16S291 on chromosome 16 (max lod 3.98) at values of theta of 0.2 in each case. Further analysis showed strong evidence for heterogeneity with approximately half the families linked to a locus TSC1 on chromosome 9 between ASS and D9S298 and half to TSC2 on chromosome 16 close to D16S291. There was no definite support for a third locus although in many families this could not be excluded. In three families the segregation pattern of TSC remains unexplained. In two of these the family apparently segregates for TSC1 but in each case a single affected individual appeared to exclude the whole of the candidate region. Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin. The frequencies of periungual fibromas and facial angiofibromas were also similar in both linkage groups. The difficulties of detecting linkage in small families where there is locus heterogeneity are discussed. The program ZZ was found to be helpful in this respect.

No abstract

Background: Whilst validated quality-of-recovery (QoR) tools exist for general surgery, there is no specific obstetric equivalent. We aimed to develop and evaluate a modified QoR score after elective Caesarean delivery. Methods: Twenty-two obstetric specific items were selected following review and modification of the QoR-40 survey by 16 experts and interviews with 50 stakeholders. Item selection was based on relevance to Caesarean delivery and endorsement by >66% of stakeholders. Items were tested on women pre-delivery, at 24 h, and 25 h post-delivery. An 11item obstetric-specific QoR score (ObsQoR-11) was created based on correlation with a numerical rating scale (NRS) of global health status (r>0.20) at all time points. Reliability, responsiveness, acceptability, and feasibility were tested. Results: One hundred and fifty-two women responded to the 22-item questionnaire pre-delivery (complete in 146), 100 at 24 h, and 10 at 25 h. The ObsQoR-11 correlated with the global health status NRS (r¼0.53; 95% confidence interval: 0.43e0.62; P<0.0001) and discriminated good vs poor recovery (NRS score 70 vs <70 mm) at 24 h. There was a negative correlation between the ObsQoR-11 score at 24 h and hospital length of stay (r¼e0.39; P¼0.003). ObsQoR-11 was reliable (internal consistency: 0.85; split-half 0.76; testeretest intra-class correlation coefficient r i >0.6 in 82% of items) and responsive (Cohen effect size: 1.36; standardised response mean: 0.85). A longer 22-item ObsQoR had high (97%) completion rates and short (median: 2 min) completion times. Conclusions: The ObsQoR-11 provides a valid, reliable, and responsive global assessment of recovery after elective Caesarean delivery.

No abstract

No abstract

Summary 1. Six common and nine rare electrophoretically distinct phenotypes of human placental alkaline phosphatase are described. 2. Their incidence has been determined in nearly 600 placentae derived from single births in an ‘ English’ population, and in placentae from more than 500 twin births. Smaller numbers from Negro and Indian populations have also been studied. 3. Strong evidence supporting the hypothesis that these phenotypes are determined by three common and six rare alleles at an autosomal locus is provided by: (a) The characteristics of the electrophoretic patterns observed in the different phenotypes. (b) The agreement of the observed numbers of the various phenotypes in the different populations studied with the numbers expected, assuming a Hardy‐Weinberg equilibrium. (c) Detailed sib‐pair analysis of the phenotypes in the pairs of placentae obtained from more than 400 dizygotic twins. These data also show that the placental phenotype is determined by the genotype of the foetus. 4. The results on the Negro population indicate that the gene frequencies are very different from those in the ‘English’ population. 5. The effect of neuraminidase on the electrophoretic mobility of placental alkaline phosphatase suggests that there may be eight available sialic acid residues per enzyme molecule. This appears to be the same for all the common phenotypes. 6. A model for the structure of placental alkaline phosphatase is suggested which will account for the triple‐banded pattern characteristic of heterozygotes and also for the relative intensities of the three bands seen in different heterozygotes.

Summary 1. At least four distinct zones with properties of serum cholinesterase (pseudocholinesterase) may be demonstrated by starch gel electrophoresis of normal serum or plasma. These have been called C1; C2, C3 and C4, and they have been observed in all the sera or plasmas studied. Most of the serum cholinesterase activity present is attributable to C4. C1( C2 and C3 are only minor components. In paper electrophoresis at pH 8·6, C1, C2, C3 and C4 have essentially the same mobility. Since they are well separated at this pH in starch gel electrophoresis it seems likely that they may represent a series of polymers of increasing molecular weight C1 < C3 < C4. C2 has a slightly greater mobility than C1, C3 and C4 in paper electrophoresis at pH 8·6. 2. In some individuals a further zone (C5) with properties of serum cholinesterase is present in addition to zones C1; C2, C3 and C4. C5 has a slightly lower mobility than C4 both in paper and starch gel electrophoresis at pH 8·6. The separation of C5 from C4 is improved in starch gel electrophoresis at pH 6·0. 3. Of 248 unrelated British individuals studied, 13 5% were found to be C5+. Of 213 Tristan da Cunha islanders studied 36 17% were found to be C5+. The incidence of the C5+ phenotype did not vary significantly in different age groups, or between the two sexes. 4. In the British population 96 % had the ‘usual’ serum cholinesterase phenotype as denned by dibucaine and fluoride number determination, and 4% had the ‘intermediate’ phenotype. All the C5+ individuals had the ‘usual’ phenotype. In the Tristan da Cunha islanders all individuals studied had the ‘usual’ phenotype. The mean DN and FNs for the C5+ individuals did not differ significantly from the mean DN and FNs of C5− individuals with the ‘usual’ phenotype. 5. The mean level of serum cholinesterase in C5+ individuals was about 30% higher than that of C5− individuals of the ‘usual’ phenotype. The difference was highly significant. This result suggests that the C5 component may be an extra component with no direct homologue in C6−individuals. 6. Studies on sixty relatives of nine randomly selected C5+ individuals from the British population showed a highly significant familial concentration of C5+. The pedigrees suggest that C5+ individuals may be heterozygous for a gene determining the formation of the C5 component. The distribution of the Cs+ phenotype in the complex pedigree of the Tristan da Cunha islanders was also found to be consistent with this hypothesis. If the hypothesis is correct then one must assume that not all presumptive heterozygotes exhibit the C5 component, because occasional instances of C5+ individuals both of whose parents were C5− were observed. There is, however, considerable variation among C5+ individuals in the amount of the C6 component present, and it is quite possible that the methods used here might have failed to detect the component if it were present only in very small amounts. We are grateful to the Medical Research Council Working Party on Tristan da Cunha for providing the ...

No abstract