bluuebunny/crossref_metadata_2025 huggingface dataset:
Insertional translocation into the X chromosome of a 46, XY male
Authors: Sparkes Robert S. , Salter William J. , Blaker Robert G. , Muller Helga M.
Published: July 2010

A baby boy with multiple congenital anomalies and low birth weight has an apparent de novo insertional translocation into the long arm of his only X chromosome. The origin of the translocated material is not evident and both cytogenetic and X‐linked marker studies do not indicate any loss of genetic material from the X chromosome. His findings are compared with other males who have X‐translocations, none of which appear to be insertional translocations.
A family with syndactyly type II (synpolydactyly)
Authors: Ridler M. A. C. , Laxova Renate , Dewhurst K. , Saldaña‐Garcia P.
Published: July 2010

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.
C‐bands in seven cases of accessory small chromosomes
Authors: Soudek D. , Sroka Helena
Published: July 2010

The C‐bands of two cases of familial, genetically inactive, accessory small chromosomes and five cases of genetically active chromosomes were examined. Inactive chromosomes consist of constitutive heterochromatin and satellites only. In active chromosomes, euchromatin was present. These chromosomes contained two, one or no C‐bands, although all these chromosomes were morphologically monocentric. C‐banding is more informative than other banding methods for this category of chromosomes.
Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigree
Authors: Pan S. F. , Fatora S. R. , Sorg R. , Garver K. L. , Steele M. W.
Published: July 2010

In three generations of the proband's patrilineal relatives, 14 subjects were found to be carriers of a “shift” insertional chromosome No. 1 (46, XX or XY, ins(1)(p32q25q31)). The proband and three female relatives, who were mild to moderate mental retardates with minor congenital anomalies, were trisomic for the insertional segment, (1)q25q31. Another subject, who was a markedly immature female abortus with congenital abnormalities, was found to be monosomic for this same chromosomal segment. The cytogenetic evidence suggests that each of these unbalanced recombinant progeny was the result of a single crossing over in the noninsertional loop of a paternal pachytene bivalent of the balanced insertional chromosome No. 1.
Trisomy 18qter and trisomy mapping of chromosome 18
Authors: Turleau Catherine , de Grouchy Jean
Published: July 2010

Four cases of partial trisomy 18q are reported and compared to observations from the literature. The phenotype of 18qter trisomy is described and compared to full trisomy 18.
A chromosome No. 2 abnormality in a child with a few congenital defects*
Authors: Escobar Javier I. , Lakatua David J. , Streifel Barbara , Virnig Norman L. , Sanchez Otto
Published: July 2010

An abnormal chromosome No. 2 was found in the case of a child with an imperforate anus, a recto‐vaginal fistula, unilateral atresia of the inner canal, and deformity of the external ear. G‐banding studies revealed an insertion of a segment of the short arm into the long arm in one of the chromosomes No. 2 of the proband, the apparent result of a de novo phenomenon of chromosome rearrangement.
Amniocentesis in prenatal diagnosis A controlled series of 78 cases
Authors: Munk‐Andersen Ebbe , Weber Jan , Mikkelsen Margareta
Published: July 2010

The outcome of 78 pregnancies, monitored by second trimester amniocentesis for prevention of genetic disease, and the outcome of an equal number of matched controls are reported. The controls were selected from the same obstetrical department, among the same population, and were matched for age, number of previous children, abortions and stillbirths. No significant difference was found in Apgar score, birth‐weight and length, duration of pregnancy, placenta condition or malformation.
Cystic fibrosis: Evidence for a genetic compound from a family study in cell culture
Authors: Danes B. Shannon , Hodson Margaret E. , Batten J.
Published: July 2010

Although the majority of patients with cystic fibrosis (CF) show a typical clinical course, a minority with the same clinical phenotype at the time of initial diagnosis have an atypical (mild) course.

Skin fibroblast cultures were established from 49 members of the family of one such atypical CF adult patient, previously identified (Danes et al. 1976) as CF Class II (ametachromatic and no metabolic cooperation with CF Class I fibroblasts), the offspring of Class I (metachromatic, metabolic cooperation with normal fibroblasts)/Class II mating. The culture phenotype for Class I was traced on the maternal side and for Class II on the paternal side through consecutive generations and the culture phenotype of each class segregated.

This family study added experimental evidence to support the hypothesis that the atypical (mild) clinical features and course of this adult CF patient were due to two different CF genes combining to produce a genetic compound expressing a mild form of CF.
46,XY, t(3;22)(p2;q13) resuIting in partial trisomy for the short arm of chromosome 3
Authors: Surana Rawatmal B. , Braudo Michael E. , Conen Patrick E. , Slade Reginald H.
Published: July 2010

A familial translocation involving the short arm of chromosome 3 and the long, arm of chromosome 22 is reported, along with an infant with multiple congenital anomalies, which are probably the result of partial trisomy for the short arm of chromosome 3.
Heterogeneity in maple syrup urine disease: Aspects of cofactor requirement and complementation in cultured fibroblasts
Authors: Singh Surjit , Willers Ingrid , Goedde H. Werner
Published: July 2010

Fibroblast strains derived from six patients with maple syrup urine disease have been investigated for their requirements of the cofactors NAD, CoASH, Mg++ and TPP in comparison with 10 normal control strains. The reconstitution of the decarboxylase function of branched chain α‐keto acid (BCKA) dehydrogenase complex in lysed cells was studied with respect to the substrates u‐keto‐isocaproic acid, α‐keto‐isovaleric acid, and α‐keto‐β‐methylvaleric acid (KIC, KIVA, MEVA). The enzyme activity of all normal control strains for the substrates KIC and KIVA was not reconstituted by TPP + Mg++ alone, but CoASH + NAD could reconstitute the enzyme activity with KIC and KIVA in different degrees. Only two control strains were tested with MEVA as substrate, and these showed in contrast that TPP + Mg++ could partly reconstitute the enzyme activity. In contrast to the relative homogeneiy in the reconstitution profiles of normal strains, the five classical and one intermittent MSUD strains showed heterogeneity in cofactor requirements.

Complementation analysis using heterokaryons prepared from fibroblasts of four patients with classical MSUD and one patient with intermittent MSUD showed, in contrast to experiments with normal controls, a partial amelioration of the defect in two combinations; it is suggested that the defect in these strains is located at different functional subunits of the multienzyme complex.
The acrocephalosyndactyly syndromes: A metacarpophalangeal pattern profile analysis
Authors: Escobar Victor , Bixler David
Published: July 2010

Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome.

Six patients in a single family showing Pfeiffer syndrome exhibited this unique MCPP profile which was not present in non‐affected family members. Furthermore, three normal‐appearing relatives were identified as affected by this technique, and this diagnosis was subsequently confirmed by radiographic and genetic data. The results show that: 1) the MCPP in Pfeiffer and Chotzen syndromes is unique and can be used to make the diagnosis of an ACS syndrome in persons who show few or no clinical stigmata of disease; 2) the MCPP does not discriminate between these two ACS types.
Cystic fibrosis: Cell culture classes in a Danish population
Authors: Danes B. Shannon , Beck B. , Flensborg E. Winge
Published: July 2010

The cystic fibrosis (CF) culture phenotype of dermal fibroblasts (metachromasia, metabolic cooperation) of a group of 131 Danish CF patients and their families were studied to determine the distribution of the two CF culture classes and their prognostic significance.

Of these, 62.6 % (82) were Class I, 31.3 % (41) Class II and 6.1 % (8) were proposed to be genetic compounds. The occurrence of Class II was twice that found in a group of patients from New York (13 %) and Minnesota (18 %).

The prognosis for Class II CF patients was considered to be poorer as: (1) The initial diagnosis was made earlier in Class II than in Class I or the compounds (63 % of Class II were diagnosed in the first year of life, as compared to 35 % in Class I and 13 % of the compounds). (2) Only 5 % of the Class II patients survived over the age of 15 years, both being deceased at the end of the study in 1976, whereas 24 % of Class I and 63 % of the compounds were over 15 years at the end of the study. This research added further evidence for genetic heterogeneity within the clinical syndrome, cystic fibrosis.
Histocompatibility typing and the counseling of families with ankylosing spondylitis
Authors: Falace Peggy , Ruderman Robert J. , Ward Frances E. , Swift Michael
Published: July 2010

White individuals who are HLA B27‐positive have an increased risk of developing ankylosing spondylitis or related diseases. HLA typing can be used in counseling relatives of persons with spondylitis, if the limitations of presently available data are recognized.
Presymptomatic diagnosis of adult onset polycystic kidney disease by ultrasonography
Authors: Wolf B. , Rosenfield A. T. , Taylor K. J. W. , Rosenfield N. , Gottlieb S. , Hsia Y. E.
Published: July 2010

Results of an ongoing prospective study of progeny of patients with adult‐onset polycystic kidney disease using grey‐scale ultrasound and high‐dose nephrotomography are reported. Six asymptomatic subjects out of 17 at risk for polycystic kidney disease were found by ultrasonography to have multiple renal cysts; this included two unrelated children aged 18 months and 6 y who had normal high‐dose nephrotomography. We suggest that ultrasonography may be the method of choice for presymptomatic detection of polycystic kidney disease. Serial studies of at‐risk individuals by sonography will be useful in determining the earliest age of detection, the latest age of ultrasonography presentation, and in following the natural history of polycystic kidney disease.
Gaucher's disease Factors affecting the 4‐methylum‐belliferyl‐β‐D‐glucosidase activity of cultured skin fibroblasts
Authors: Butterworth J. , Broadhead D. M.
Published: July 2010

Phosphate‐buffered saline was found to inhibit acid β‐glucosidase activity of cultured cells. This effect was attributable to both the pH and the chloride content of the phosphate‐buffered saline. Washing the cells in sucrose (0.25M) to remove residual phosphate‐buffered saline effectively eliminated this inhibition.
Ultrasonography for guidance of amniocentesis in genetic counseling
Authors: Levine Sandra C. , Filly Roy A. , Golbus Mitchell S.
Published: July 2010

The value of preliminary ultrasonography as a guide for amniocentesis in the early second trimester of pregnancy was prospectively evaluated. One hundred and fifty patients were alternately assigned to a control group or to an ultrasound group who underwent examination with a real‐time scanner immediately prior to amniocentesis. All amniotic fluid samples were assessed as to the presence of blood by: (1) visual observation during the amniocentesis; (2) appearance of the centrifugate; and (3) microscopic analysis. Ultrasonography did not reduce the failure rate, the incidence of multiple needle insertions, or the proportion of amniotic fluid samples containing blood.
Turner syndrome with rare karyotypes
Authors: Boczkowsk Krzysztof , Mikkelsen Margareta , Poulsen Hanne
Published: July 2010

Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp ‐; two cases with 45,X/46,X,r(X); one case with 45,X/ 47,XYY; and one case with 46,XY.
Purification and characterization of altered cystic fibrosis liver α‐L‐fucosidase
Authors: Alhadeff Jack A. , Watkins Patricia , Freeze Hud
Published: July 2010

α‐L‐Fucosidase (E.C.3.2.1.51) from two cystic fibrosis livers has been purified and characterized. Purification was accomplished by an affinity chromatographic procedure previously used for normal liver α‐L‐fucosidase. Characterization of the two cystic fibrosis α‐L‐fucosidases indicated that they were very similar to normal liver α‐L‐fucosidase with regard to pH optima profiles, Michaelis constants (Km's), subunit structure and antigenicity. However, gas liquid chromatographic analysis revealed altered carbohydrate compositions for both the cystic fibrosis α‐L‐fucosidases. The three major sugars found in normal purified liver α‐L‐fucosidase (mannose, N‐acetylglucosamine and sialic acid) were reduced in the cystic fibrosis α‐L‐fucosidases, on average, to 51 %, 44 % and 32 %, respectively, of their normal amounts,
Chromosomes in retinoblastoma patients
Authors: Davison E. V. , Gibbons B. , Aherne G. E. S. , Roberts D. F.
Published: July 2010

In a series of eight patients with retinoblastoma, one was found to have a reciprocal translocation of chromosomes 1 and 13. The breakpoint on chromosome 13 is at band q12, which suggests that the retinoblastoma locus is less distal than previously thought.
Heterozygote advantage in cystic fibrosis: mosquito tests
Authors: Super Maurice , van Schalkwyk DirkJ.
Published: July 2010

Tests to demonstrate a preference by mosquitoes for stinging controls as opposed to obligate heterozygotes for Cystic Fibrosis proved negative. If a heterozygote advantage caused a lower malarial incidence in carriers in South West Africa, it must have worked through the malarial parasite being adversely affected by a serum factor. This remains to be tested.
Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome
Authors: Hoo J. J. , Parslow M. I. , Shaw R. L. , Veale A. M. O.
Published: July 2010

A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C‐banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.
Translocation 46XY, t (17;18) (q25;q21) in a mentally retarded boy with progressive eye abnormalities
Authors: Smith Arabella , Caradus Verne , Henry J. Graham
Published: July 2010

A 10‐year‐old boy with a reciprocal translocation between chromosomes 17 and 18‐46XY, t (17;18) (q25; q21), appeared cytogenetically balanced. The patient was a healthy, thriving boy whose main abnormal feature was moderate mental retardation. However, abnormal ocular signs were present, including macular “fibrosis”, optic disc abnormalities with a traction retinal detachment, tapeto‐retinal degeneration, and tilting of the disc to the nasal side. These changes are consistent with the ocular changes previously described in the 18q‐ syndrome, suggesting that there has been a minimal deletion of chromosome material at the 18q21 breakpoint. The case also demonstrates that the ocular changes of the 18q‐ syndrome may be progressive.
Features of trisomy 18 and 18p‐syndromes in an infant with 46, XY, i(18q)
Authors: Bass Harold N. , Sparkes Robert S. , Miller Alvin A.
Published: July 2010

An isochromosome for the long arm of chromosome number 18 ‐ 46, XY, i(18q) ‐ was found in an infant who had features of both trisomy 18 and 18p– syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker‐bottom feet. Those of 18p– syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely‐spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
Neuraminidase deficiency in the original patient with the Goldberg Syndrome
Authors: Thomas George H. , Goldberg Morton F. , Miller Carol S. , Reynolds Linda W.
Published: July 2010

Homogenates of cultured skin fibroblasts from a non‐ambulatory, 20‐year‐old male with cherry‐red spots, corneal clouding, seizures, mental retardation, dysostosis multiplex, dwarfism, coarse facies and loss of vision, originally described by Goldberg et al. (1971), have diminished neuraminidase activity and an excess of neuraminic acid‐rich compounds. Specifically, these cells have 2–17 % normal neuraminidase when measured with 2‐(3′ meth‐oxyphenyl)‐N‐acetyl‐α‐neuraminic acid, N‐acetyl‐neuramin‐lactose and fetuin. Activities of 12 other lysosomal enzymes were either at or above the range of normal control fibroblasts. Total neuraminic acid concentration was 44.3 nmol/mg protein versus an average control value of 14.2. It is concluded that the Goldberg syndrome should be considered, along with mucolipidosis I and the cherry‐red spot ‐ myoclonus syndrome, as resulting from a primary neuraminidase deficiency.
Roberts' syndrome.I. Cytological evidence for a disturbance in chromatid pairing
Authors: German James
Published: July 2010

In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister‐chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their contours. The observed abnormalities are interpreted as evidence for the presence of a genetically determined disturbance affecting the normal mechanisms for pairing and disjoining of sister chromatids.
Chromosome 8 abnormalities as components of neoplastic and hematologic disorders
Authors: Riccardi Vincent M. , Foroason Judy
Published: July 2010

Publications involving patients with any abnormality of chromosome 8 have been reviewed in detail. For the time period involved, a total of 277 cases were found, including 74 instances of congenital aneuploidy, 130 instances of acquired aneuploidy, 38 instances of congenital rearrangements, and 35 instances of acquired rearrangements. A total of 170 cases of neoplastic and hematologic disorders were included; three were associated with congenital aneuploidy, two with congenital rearrangements, and the remaining 165 with acquired aberrations. The specific disorders ranged from sideroblastic anemia through chronic and acute leukemia to solid tumors. There appears to be a definite, though nonspecific correlation between congenital or acquired chromosome 8 abnormalities and the development of certain types of neoplastic growth.
Autosomal recessive spastic paraplegia: evidence for demyelination
Authors: Rothschild Henry , Happel Leo , Rampp Donald , Hackett Earl
Published: July 2010

Neurological evaluation of a family living in rural Louisiana showed that six living members have spasticity, hyperactive stretch reflexes, and pathological reflexes. Ten deceased family members had been similarly affected. All affected persons were offspring of consanguineous marriages, and sex distribution was equal, indicating that the inheritance was autosomal recessive. Although undetected clinically, conduction abnormalities suggestive of demyelination in the visual pathways were revealed by special tests.
Counseling for dominant traits: a correction for the ascertainment bias due to referral for analysis
Authors: Gladstien Keith , Spence M. Anne
Published: July 2010

Genetic heterogeneity complicates genetic counseling because the correct mode of inheritance must be determined independently for each pedigree. When autosomal and X‐linked dominant inheritance mechanisms are known, as for example with retinitis pigmentosa, then only families where male‐to‐male transmission is observed may be readily counseled. The other pedigrees may be autosomal but lack male‐to‐male transmission due to chance segregation. Since only the pedigrees without male‐to‐male transmission are analyzed for their mode of inheritance, there is an ascertainment bias which must be corrected when evaluating the likelihood of the two inheritance patterns. A methood to correct for this bias using conditional likelihoods is given, along with examples to demonstrate its use.
Partial trisomy 13 plus partial trisomy 4q due to unusual segregation of translocation chromosomes
Authors: Fonatsch Christa , Flatz Sibylle D. , Weitzel Eva
Published: July 2010

The cytogenetic analysis of a 7‐month‐old retarded girl with clinical signs compatible with partial trisomy 13 revealed a translocation t(4;13)(q33;ql4) and an additional derivative chromosome 13. This karyotype probably resulted from 3:1 segregation during meiosis of the patient's mother.
Variability between and within laboratories in the analysis of structural chromosomal abnormalities
Authors: Zavala C. , Arroyo P. , Lisker R. , Carnevale A. , Salamanca F. , Navarrete J. I. , Jiménez F. M. , Blanco B. , Vázquez V. , Sánchez J. , Canún S.
Published: July 2010

The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to determine the relative importance of inter‐ and intralaboratory factors in the variability of chromosomal abnormalities. In addition to the difference in the frequency of the abnormalities between the subjects studied, there were differences due to observers from different laboratories (P < 0.01), as well as between laboratories (P < 0.01). These results could be explained in part by insufficient agreement between observers from different laboratories and by differences in the quality of the method used.
Genetic structure of the Greek gypsies
Authors: Bartsocas C. S. , Karayanni C. , Tsipouras P. , Baibas E. , Bouloukos A. , Papadatos C.
Published: July 2010

Data are presented on several polymorphic genetic markers in 200 Greek gypsies. Polymorphic loci studied were: the ABO, MN, Rhesus, Kell and Duffy blood groups, hemoglobin, and ceruloplasmin. A survey for congenital malformations and hereditary diseases was also carried out on this group. The ABO, Rhesus, MN and Duffy system frequencies varied significantly from the figures obtained for the Greek population. However, there is a characteristic similarity between various gypsy groups studied in other nations and the distribution of polymorphic traits in the Punjab region of India. Cystic fibrosis, renal tubular acidosis, 21‐hydroxylase deficiency, Holt‐Oram syndrome and homozygous (3‐tha‐lassemia were diagnosed within the gypsy group studied.
Risk of malignancy and chromosomal polymorphism: a possible mechanism of association
Authors: Shabtai Florella , Halbrecht Isaac
Published: July 2010

A significantly increased incidence of heterochromatic chromosomal variants, particularly of Ai and Cy, has been found in a group of 120 patients with malignant or premalignant diseases. People presenting with such a kind of polymorphism usually have an increased chromosomal breakage rate. Genetically increased susceptibility to breaking agents may be the unifying concept explaining the increased incidence of heterochromatic variants found in couples with sterility or abortions, in karyotypically normal malformed or retarded children, and in patients suffering from different malignant or premalignant diseases. Chromosomal imbalance is probably the basis for initiation of malignancy whose development is influenced by many different factors.
A case of Mulibrey nanism with associated Wilms' tumor
Authors: Similä S. , Timonen M. , Heikkinen E.
Published: July 2010

The occurrence of a nephroblastoma in a 2–year‐old girl with Mulibrey nanism is reported. As this tumor has also been reported in some other “mesodermal dysgenesis” syndromes, it seems probable that patients with this form of congenital disease run an abnormally high risk of Wilms' tumor.
Upper limb anomalies and renal disease
Authors: Siegler Richard L. , Larsen Paul , Buehler Bruce A.
Published: July 2010

Two brothers with upper limb and renal anomalies have been identified. Their upper limb abnormalities were characterized by absence and hypoplasia of various bones; their renal anomalies included crossed‐fused ectopia and vesico‐ureteral reflux. Both suffered from chronic kidney failurc secondary to reflux nephropathy. An autosomal or scx‐linked mode of inheritance seems likely.
Turner's syndrome and 45, XO/46, X, del(X)(p11p22) karyotype
Authors: Laća Ž. , Dramuŝić V. , Arandjelović N. , Branković S.
Published: July 2010

This paper presents a female patient with a clinical picture of Turner's syndrome and the chromosomal constitution: 45, XO/46, X, del(X)(p11 p22).
The identification of Y chromosome translocations following Distamycin A treatment
Authors: Cohen Maimon M. , Frederick Robert W. , Balkin Nancy E. , Simpson Stacy J.
Published: July 2010

Pretreatment of PHA‐stimulated lymphocyte cultures from normal males with 100 (μg/ml Distamycin A for the final 24 h of incubation led to a striking decondensation of the heterochromatic portion of the long arm of the Y chromosome. The despiralized region of Yq maintained its fluorescent properties in this altered morphologic state. Two cases of Y chromosome translocation (Y/22 and Y/X) were identified with this technique. A review of the literature revealed 62 similar cases in which the phenotypic‐karyotypic correlations were instrumental in the prenatal counselling of the family with the Y/22 translocation.
Psychoses in twins‐a longitudinal study Introductory clinical report
Authors: Eberhard Göran
Published: July 2010

A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930–1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty‐three complete pairs, where one or both twins showed psychotic or prepsychotic symptoms, were carefully examined with regard to different clinical, genetic, biochemical, and psychophysiological parameters. A fairly young sample was chosen in order to include a sufficient number of discordant pairs to be followed prospectively and thus making it possible to study a group of individuals exposed to a very high risk of developing psychoses. Of the 23 pairs, eight pairs were monozygotic, which is somewhat less than expected and may be due to the very careful diagnoses of zygosity which also included analysis of HL‐A antigens. An account is given of material and methods, principles of sampling, and clinical data of all twin pairs. No less than 17 complete pairs were judged to be discordant for serious mental disturbance at the time of the examination. Brief histories of the monozygotic twin pairs are included.
Activity of platelet monoamine oxidase in apparently healthy subjects
Authors: Koide Yayoi , Sääf Jan , Roos Svante B. , Wahlund Lars‐Olof , Wetterberg Lennart
Published: July 2010

Monoamine oxidase activity was assayed in platelets from 32 apparently healthy subjects using phenethylamine as substrate and two concentrations of oxygen (0.06 and 0.12 mM). Apparent Km (μM) and Vmax (nmol/mg protein/5 min) values were estimated from double reciprocal plots. The means of the Km and Vmax values were both increased by a factor of about 1.6 when the oxygen concentration was elevated from 0.06 mM (Km= 2.96 and Vmax= 4.47) to 0.12 mM (L = 4.82 and Vmax= 7.18). The frequency distribution of the Vmax values was not clearly unimodal, especially at the higher oxygen concentration. The Vmax values of the women were significantly higher than those of the men but no sex difference was obtained for the Km values. The overall velocity (v) at 10 μM phenethylamine was highly correlated to the Vmax values both at low and high oxygen concentrations (r=0.99 and 0.98, respectively).
Parental α 1‐antitrypsin (PI) types and meiotic nondisjunction in the aetiology of Down syndrome
Authors: Jongbloet P. H. , Frants R. R. , Hamers A. J.
Published: July 2010

In 100 children with Down syndrome (DS), the parental origin of the supernumery chromosome 21 was investigated. In 76 out of the 100 cases the polymorphic regions were informative, i.e. the nondisjunction could be traced. Assessment of the α1‐antitrypsin/α1‐protease inhibitor (PI) types in these DS children revealed a significantly higher value of non‐M PI variants (P < 0.05). In their fathers the non‐M PI variants were not increased, not even in those in whom nondisjunction had taken place. A clearly significantly higher value (P<< 0.001) of non‐M PI variants was found in their mothers, particularly when only the MS and MZ types which are recognised as deficiency variants were considered. Most striking, however, is the almost 5‐fold increased frequency of MS and MZ types found in mothers where the nondisjunction had occurred during the first meiotic division. This would suggest that PI deficiency interferes with some process leading to non‐disjunction. If these findings are confirmed, application of Bayes' theorem enables us to estimate the risk for MZ and MS heterozygous women to have a DS child: this would be 3‐ to 4‐fold higher than for MM homozygous women. This would be of interest for genetic counselling and enhance the benefits of prenatal diagnosis programmes.
Phenotypic variation in Meckel syndrome
Authors: Seller Mary J.
Published: July 2010

Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only two of the three cardinal signs of Meckel syndrome ‐ encephalocoele and polycystic kidneys, lacking Polydactyly. The literature is examined to assess the phenotypic variation of the condition: 57 % of cases have all the three major abnormalities, 16% have the two found in this family, and the remainder exhibit other variations. In 9 of 17 families where more than one sib is affected, manifestation between sibs is the same, but in the only other two families with as many as four affected sibs, there is variation in expression between sibs.
Radiographic lung density assessed by computed tomography is associated with extravascular lung water content
Authors: KUZKOV V. V. , SUBOROV E. V. , KIROV M. Y. , WÆRHAUG K. , MORTENSEN R. , KUKLIN V. N. , NORDHUS K. C. , BJERTNÆS L. J.
Published: July 2010

Background: We hypothesized that in acute lung injury (ALI), the volume of pulmonary tissue with aqueous density, as determined by spiral computed tomography (CT), is associated with extravascular lung water content. Our aim was to compare tissue volume index, as assessed by CT, before and after oleic acid‐induced ALI, with extravascular lung water indexes (EVLWI), determined with single transpulmonary thermodilution (EVLWISTD), thermal‐dye dilution (EVLWITDD), and postmortem gravimetry (EVLWIG).

Methods: Seven instrumented sheep received an intravenous infusion of oleic acid 0.08 ml/kg (OA group) and four animals had vehicle only (Control group). The day before, and immediately after the experiment, sheep were anesthetized to undergo quantitative CT examinations during a short breath hold. Hemodynamics, oxygenation, EVLWISTD, and EVLWTDD were registered. Linear regression analysis was used to assess the relationships between EVLWISTD, EVLWTDD, EVLWIG, and lung tissue volume index (TVICT) determined with CT.

Results: In the OA group, total lung volume increased compared with Controls. Poorly and non‐aerated lung volumes increased a 3.6‐ and 4.9‐fold, respectively, and TVICT almost doubled. EVLWISTD, EVLWITDD, and TVICT were associated significantly with EVLWIG (r=0.85, 0.90, and 0.88, respectively; P<0.001). TVICT deviated from the reference EVLWIG values to the greatest extent with a mean bias ± 2SD of 4.0 ± 6.0 ml/kg.

Conclusions: In ovine oleic acid‐induced ALI, lung tissue volume, as assessed by quantitative CT, is in close agreement with EVLWI, as determined by indicator dilution methods and postmortem gravimetry, but overestimates lung fluid content.
Identification, inheritance and gene mapping of resistance to a virulent Soybean mosaic virus strain SC15 in soybean
Authors: Yang Q. H. , Gai J. Y.
Published: July 2010

With 1 figure and 3 tables

Soybean mosaic virus (SMV) is one of the major pathogens for soybeans worldwide. Among the 21 strains identified under uniform identification system in China, SC15 can infect all 10 of the differentials, is the most virulent strain and has been prevalent especially in Southern China. In this study, 10 elite accessions resistant to SC15 were identified from 205 soybean lines. P1, P2, F1, F2 and 200 recombinant inbred lines (RIL) of the cross ‘RN‐9’ (resistant, R) ×‘7605’ (susceptible, S) were used to study inheritance of resistance to SC15. F1 was identical to ‘RN‐9’, F2 segregated in a 3R : 1S phenotypic ratio, whereas RILs segregated in a 1R : 1S genotypic ratio. This indicated that a single dominant gene, designated as RSC15, conferred the resistance. A genetic linkage map of a segment of C2 linkage group was constructed using SSR markers identified by bulked segregant analysis of RIL population, where RSC15 was mapped between Sat_213 and Sat_286 with distances of 8.0 and 6.6 cM to the respective flanking markers.
Sustained effects of thoracocentesis on oxygenation in mechanically ventilated patients
Authors: WALDEN Andrew P. , GARRARD Christopher S. , SALMON Jonathon
Published: July 2010

Background and objective:  No consensus exists as to the benefit of pleural drainage in mechanically ventilated patients with conflicting data concerning the effects on gas exchange. We determined the effects on gas exchange over a 48‐hour period of draining, by thoracocentesis, large volume pleural effusions.

Methods:  A total of 15 thoracocenteses were performed in 10 mechanically ventilated patients with ultrasound evidence of pleural effusions predicted to be greater than 800 mL in volume. Gas exchange, mixed expired CO2, dynamic lung compliance, ventilator settings before procedure and at 30 min, 4, 8, 24 and 48 h were determined. Data were analysed using paired t‐tests and repeated‐measure anova.

Results:  Following thoracocentesis there was a 40% increase in the PaO2 from 82.0 ± 10.6 mm Hg to 115.2 ± 31.1 mm Hg (P < 0.05) with a 34% increase in the P:F ratio from 168.9 ± 55.9 mm Hg to 237.8 ± 72.6 mm Hg (P < 0.05). These effects were maintained for a period of 48 h. There was a correlation between the amount of fluid drained and the effects on oxygenation with an increase in the PaO2 of 4 mm Hg for each 100 mL of pleural fluid drained. A‐a gradients continued to improve over the course of the study together with a reduction in the dead space fraction and improved dynamic compliance.

Conclusions:  Drainage of large pleural effusions in mechanically ventilated patients leads to a significant improvement in gas exchange, and these effects are sustained for 48 h after the procedure supporting a role in the discontinuation of mechanical ventilation.
Racism, Class Ethos and Place: The Value of Context in Narratives about Asylum-Seekers
Authors: Millington Gareth
Published: July 2010

The British public view asylum-seekers in generally negative terms. Yet whilst there are an abundance of reports and opinion polls that measure levels of hostility in order to fuel political ‘debate’ very little is known about how asylum seekers are spoken about in more quotidian contexts. Based on an ethnographic study of racism in Southend-on-Sea, Essex this paper identifies two kinds of narrative (abstract truths and context-dependent stories) commonly used by established members of the community to speak about asylum-seekers. The paper then seeks to explain why more affluent, suburban residents of the town tend to draw upon the abstract narrative while less wealthy, centrally located residents are more likely to regale context-dependent stories about asylum seekers. An explanation for this socio-spatial phenomenon is constructed around a Bourdieusian theory of practice that unravels local class relations and maps out a field for local symbolic prestige. Finally this microanalysis is used as a springboard to consider the wider relationship between racist narratives and social and cultural reproduction.
I Spy with My Little Eye: The Use of CCTV in Schools and the Impact on Privacy
Authors: Taylor Emmeline
Published: July 2010

CCTV is widely acknowledged to be ubiquitous in British urban areas. It is therefore not surprising that its use has seeped into institutions such as the school. As such it is important, perhaps more than ever, to be able to attribute an inherent value to privacy and demonstrate that its infringement facilitated by the burgeoning of technological surveillance practices could have potentially serious consequences for society. Drawing upon empirical research conducted in three secondary schools in the United Kingdom, this paper examines the value of privacy as perceived by pupils and the extent to which this is undermined or eradicated by the presence of
Research Note: Bourdieu and Leibniz: Mediated Dualisms
Authors: Weik Elke
Published: July 2010

The research note discusses similarities in theory construction between Bourdieu and Leibniz. Instead of ‘overcoming’ the Cartesian dualisms, both authors find a way to mediate between the dualistic concepts by introducing a third concept. In Leibniz’ case, this is God, in Bourdieu's case, history. Reading Bourdieu thus from a Leibnizian angle, the note seeks to clarify some issues in Bourdieu's theory
A pilot methodology study for the photographic assessment of post‐inflammatory hyperpigmentation in patients treated with tretinoin
Authors: Rossi AB , Leyden JJ , Pappert AS , Ramaswamy A , Nkengne A , Ramaswamy R , Nighland M
Published: July 2010

Background  Post‐inflammatory hyperpigmentation (PIH) is a common occurrence in patients with acne vulgaris, particularly in those with skin of colour.

Aims  A previous study has demonstrated the benefit of tretinoin (retinoic acid) in the treatment of PIH; however, there is currently no standard protocol to evaluate change in PIH following treatment. Based on these findings, we performed a pilot, exploratory, blinded, intraindividual‐controlled methodology study that consisted of a photographic assessment protocol with facial mapping.

Materials and methods  The study was based on a secondary analysis of a phase 4, community‐based trial of 544 acne patients who were treated with tretinoin gel microsphere 0.04% or 0.1%. Only patients with Fitzpatrick types III–V (skin of colour) were included in the study; subjects with Fitzpatrick skin type VI were excluded because the photographic assessment did not allow for proper evaluation.

Results  Despite the small number of subjects evaluated (n = 25), the results revealed consistent assessment of improvement in PIH between two independent graders (weighted κ = 0.84).

Conclusion  Further study with a larger population is recommended to validate the accuracy of this method.
Photosynthetic carbon isotope discrimination and its relationship to the carbon isotope signals of stem, soil and ecosystem respiration
Authors: Wingate Lisa , Ogée Jérôme , Burlett Régis , Bosc Alexandre , Devaux Marion , Grace John , Loustau Denis , Gessler Arthur
Published: July 2010

Commentary p309
Reported challenges in nurse‐led randomised controlled trials: an integrative review of the literature
Authors: Vedelø Tina Wang , Lomborg Kirsten
Published: July 2010

Scand J Caring Sci; 2011; 25; 194–200
 
Reported challenges in nurse‐led randomised controlled trials: an integrative review of the literature

Aims:  The purpose of this integrative literature review was to explore and discuss the methodological challenges nurse researchers report after conducting nurse‐led randomised controlled trials in clinical hospital settings. Our research questions were (i) what are the most commonly experienced methodological barriers and challenges and (ii) which lessons can be learned from these reports?

Method:  A database search of Medline, Cinahl, The Cochrane Library and Embase was carried out. Variants of the following search terms were used: randomised controlled trial, controlled clinical trial, clinical trial, methods, nursing research, nursing, research, challenges, barriers, nurse’s role, nurse attitude, attitude of health personnel.

Findings:  The literature on reported challenges and barriers between 1999 and 2009 showed that the most often experienced problems were (i) sufficient patient recruitment, (ii) nonadherence to research protocols and (iii) economic and organisational obstacles. These three challenges and barriers were inter‐related and all were affected by time and timing.

Conclusion:  Randomised controlled trials are complex, expensive, time‐consuming and highly demanding for researchers and the clinical nursing staff. Two lessons learned from this integrative review can be highlighted. First, we recommend researchers openly to share their experiences of barriers and challenges. They should describe factors that may have inhibited the desired outcome. Second, efforts to improve the collaboration between nurse researchers and clinicians, including education, training and support may increase the success rate and quality of nurse‐led studies using the randomised controlled trial.
Reduction of the risk of transfusion‐transmitted human immunodeficiency virus (HIV) infection by using an HIV antigen/antibody combination assay in blood donation screening in Cameroon
Authors: Tagny Claude Tayou , Mbanya Dora , Leballais Lionel , Murphy Edward , Lefrère Jean‐Jacques , Laperche Syria
Published: July 2010

BACKGROUND: Improving blood safety without introducing nucleic acid testing in blood screening may be possible using antigen/antibody (Ag/Ab) combination assays, especially in resource‐poor countries.

STUDY DESIGN AND METHODS: To evaluate the potential reduction of human immunodeficiency virus (HIV)‐transmitted infection using such an assay, a study was carried out aimed to compare the routine strategy for blood screening (S1), combining a rapid test (Determine HIV‐1/‐2, Inverness) and an enzyme immunoassay (human HIV‐1/‐2, Human Diagnostic) with an HIV Ag/Ab assay (S2, Genscreen ULTRA HIV Ag‐Ab, Bio‐Rad) in 2000 blood donations tested in Cameroon. Western blot and HIV RNA polymerase chain reaction were used to confirm the infection in reactive donors, and genotype was determined in HIV RNA–positive samples.

RESULTS: Of the 2000 donors, 3.1% were positive with S1 and 4.3% with S2. Of the 97 samples positive with S1 and/or S2 tested for confirmation, 54.7% were positive, 38.1% indeterminate, and 7.2% negative. There were significant differences between S1 and S2 in terms of sensitivity (S1, 79.2%; S2, 100%), irrespective of the genotype, and in specificity (S1, 99.0; S2, 98.3%). The most frequent genotype (49%) was CRF02_AG.

CONCLUSIONS: A testing strategy using Genscreen ULTRA HIV Ag/Ab could prevent 55 HIV transmissions per 10,000 donations. However, this would be at a cost of discarding 170 per 10,000 negative donations that would test false positive, showing that the implementation of new techniques in blood screening need an optimization before routine use. Using confirmatory assays, HIV Ab prevalence in blood donors in Cameroon was estimated at 2.65%.
The Zero Nukes Conundrum
Authors: GARDELS NATHAN
Published: July 2010

We have learned from the sacking of the Alexandrian Library in 415 ad or the mysterious demise of the Maya that knowledge can be inadvertently lost to all time through chaos and battle. But can knowledge be lost on purpose?
A Season for Disarmament
Authors: BLIX HANS
Published: July 2010

Is President Barack Obama's proposal for zero nuclear weapons realistic? Will it make the world more secure, or more prone to wars since they are no longer unthinkable?

To evaluate this bold strategic initiative, we have invited comments from two former US secretaries of state, a former director of the CIA and the former head of the International Atomic Energy Agency who led the hunt for Saddam's non‐existent weapons of mass destruction on the eve of the Iraq war.
Better to Remain Ambiguous on Nukes
Authors: KISSINGER HENRY
Published: July 2010

Is President Barack Obama's proposal for zero nuclear weapons realistic? Will it make the world more secure, or more prone to wars since they are no longer unthinkable?

To evaluate this bold strategic initiative, we have invited comments from two former US secretaries of state, a former director of the CIA and the former head of the International Atomic Energy Agency who led the hunt for Saddam's non‐existent weapons of mass destruction on the eve of the Iraq war.
Brazil and Turkey Shift Global Politics
Authors: FULLER GRAHAM E.
Published: July 2010

The world is rapidly evolving on many fronts. Brazil, Turkey and other emerging powers are taking their own initiatives and building their own global links outside the old frameworks of the G‐8, the United Nations Security Council and NATO. The “third way” politics of Tony Blair that embraced globalization from the left of center in Britain has given way to the Tory party once again. Just as recovery from the financial crash seemed on the horizon, Europe's sovereign debt crisis has erupted. The historically unprecedented pace and scale of urbanization in China is transforming the politics of the Communist Party.

President Lula of Brazil, former US treasury secretary Henry Paulson, Singapore's foreign minister George Yeo and others take stock of these manifold developments.
The Rise and Fall of New Labour
Authors: GIDDENS ANTHONY
Published: July 2010

The world is rapidly evolving on many fronts. Brazil, Turkey and other emerging powers are taking their own initiatives and building their own global links outside the old frameworks of the G‐8, the United Nations Security Council and NATO. The “third way” politics of Tony Blair that embraced globalization from the left of center in Britain has given way to the Tory party once again. Just as recovery from the financial crash seemed on the horizon, Europe's sovereign debt crisis has erupted. The historically unprecedented pace and scale of urbanization in China is transforming the politics of the Communist Party.

President Lula of Brazil, former US treasury secretary Henry Paulson, Singapore's foreign minister George Yeo and others take stock of these manifold developments.