bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sindrome di Werdnig-Hoffmann familiare che include una coppia di gemelli MZ concordanti (un caso di Consulenza Eugenica)
Authors: Gedda L. , Porto G. Del , Porto-Mercuri A. Del 
Published: July 2016

SUMMARYThe Authors report the eugenic prediction formulated for a couple whose three babies (two of whom were monozygotic twins) had died as a consequence of the syndrome of Werdnig-Hoffmann. Since the two cases of the MZ twin pair represent a single chance combination at conception, and since the indications from the literature and from the family tree in this case indicate a monomeric genotype of a recessive type, the morbid risk for a fourth affected child has been estimated at 25%.The occurrence of concordant W. H. syndrome in MZ cotwins is stressed.No chromosome abnormalities have been revealed by karyotype examination of the parents.
Piccolo male in due gemelle monozigotiche. L'apporto dell'EEG allo studio dell'ereditarietà nell'epilessia
Authors: Pelliccioli V. , Garioni F. 
Published: July 2016

SUMMARYMonozigotic twin-girls 6 8/12 years old, one right-handed girl and the other left-handed, present petit mal seizures, appeared contemporaneusly when the twin-girls were 5 years old. The Eleccal tracing of petit mal with these troencephalogram shows a typicaracteristics: in the left hemisphere of the right-handed girl and in the right of the left-handed girl there is a preponderance of attivity.One sister of the twis-girls, 8 years old, has a tracing with epilectical activity spike-wawe 3 per second of high voltage; she never had clinical seizures.The mother's, 34 years old, present a tracing on activation, with teta activity 7 per second of low voltage.The tracing of the father, 33 years old, is negative.The tracing of the maternal-grand mother, 67 years old, present on activation, a light dysrithmia in the Pa O. right seat.The AA take from these dates some considerations about the question of the heredity in the Epilepsy and conclude on the base of their researches that they could favour the conception that existe in the epilepsy a functional miopragie of the brain, on hereditary base. These miopragies are, probably, connected with one functional differentiation deficiency of determined structures of the central-nervous-system.
The Genetics of Epilepsy
Authors: Kimball O. P. , Hersh A. H. 
Published: July 2016

SummaryAmong 520 sibships, in which at least one child was an epileptic and for which the family history and clinical findings were quite complete, there were 294 with one parent affected, 222 with neither parent, and 4 with both parents affected. Numerical tests on the pooled data show quite definitely that epilepsy is inherited as if due to a simple autosomal dominant gene with approximately 65% penetrance. Since about 65% of all epilepsy is genetic and since there is about 65 penetrance in genetic epilepsy, the 2 factors effectively balance one another, so that the incidence of epilepsy in the population, 1 in 200, may be taken as the frequency of individuals with a genetic constitution for epilepsy.Assuming random mating, the gene frequency for the dominant gene for epilepsy is 0.0025 and for the normal recessive allele the value is 0.9975. It follows that only about 1 in 160,000 is homozygous for the dominant gene for epilepsy and that 99.5% of the population are genetically normal. For the genetic counselor it is of interest that if one parent has a genetic constitution for epilepsy the frequency among the children is about 36%, and if one child in such a family has epilepsy the empirical probability of another child having epilepsy is about in 1 in 8, which having regard to the standard error, agrees with the degree of concordance (10.3±1.8%) in dizygotic twins, as should be expected.
Constitutional disorders of homeostasis. The genetic aspect of diabetes mellitus, essential hypertension and obesity
Authors: Bauer Julius 
Published: July 2016

SummaryThere are abnormal states leading to diseases that are not confined to lesions or functional defects of particular organs but that are best interpreted from a broader view as result of deficient homeostatic mechanisms. Constitutional diabetes mellitus, hypertension and obesity belong to this category. The respective homeostatic defect involves the function of many organs and is genetic in nature. In contrast tp these constitutional states diabetes, hypertension and obesity can develop also as manifestation of localized and well defined diseases of any one of the organs which are links in the chain securing the respective homeostasis. These much less common disease types are symptomatic diabetes, hypertension or obesity. There is reason to assume that the constitutional types have a multifactorial (polygenic) causation which makes further elucidation of the mode of hereditary transmission very difficult.
Sudden non-traumatic death associated with physical exertion in identical twins
Authors: Jokl Ernst , Wolffe Joseph B. 
Published: July 2016

SummaryTwo cases of cudden non-traumatic death associated with physical exertion in identical twins. The one observation concerned a famous rugby player who died immediately after a competitive game. Autopsy revealed cardiac hypertrophy and advanced myocardial fibrosis, excess lymphoid tissue, a larghe thymus gland with active Hassals bodies and hydronephrosis of the left kindney. A twin brother of the deceased died at about the same time during swimming. The second instance was studied by O'Brien. It refers to a man age 26 who died during physical work on the farm (pulling sugar beets). Post mortem examination showed a hemmorrahagic cyst with a pigmented wall and a thrombosed aneurysm of the left middle cerebral artery which had leaked. An identical twin brother of this man had died a short time previously while playing tennis.
Leucocyte Morphology and Chromosome Morphology
Authors: Dallapiccola B. , Baricordi O. , Capra L. , Mazzilli C. 
Published: July 2016

The banding techniques currently employed in human cytogenetics for the identification of the individual chromosomes have been used to stain PHA lymphocytes and circulating leucocytes. The capacity of these techniques to localize singular chromosomes or chromosomal regions has been investigated.It has been observed that among the four major categories of bands (Q, G, E and R) only the quinacrine staining is informative in interphase nuclei, because of its peculiarity to stain the long arm of the Y chromosome and few other heterochromatic regions. Interphase nuclei treated according to the C-bands show the presence of several heterochromatic masses, corresponding to the centromeric areas of individual chromosomes, but as such they cannot be recognized accurately. More specific and selective techniques, like G-11 and G-Y protocols, appear to be suitable to localize the centromeric regions of chromosome no. 9 and the long arm of Y chromosome. Variation of the incubation time in the alkali-saline solutions and of pH values have proven to be appropriate for the demonstration of other heterochromatic regions in interphase nuclei and in circulating leucocytes.The “nuclear” approach to the study of specific heterochromatic regions of human chromosomes may be of practical interest into the investigation of several biological problems and into the detection of individuals carrying chromosome variants.
Genetic Counseling in Neurology
Authors: Dodinval P. 
Published: July 2016

This review deals with CNS troubles and anomalies (excluding mental defects and oligophrenia, as well as primary muscular degenerations), that account for approximately 25 percent of all cases of genetic counseling in our material.From a genetic-counseling perspective, CNS affections may be easily classed as follows: (1) congenital malformations; (2) monofactorial Mendelian affections; (3) diseases with a possibly hereditary disposition (e.g., arthrogryposis); (4) infant cerebral palsies; and (5) epilepsies.In our own material, CNS congenital malformations account for approximately 60 percent of all cases of neurologic genetic counseling, whereas Mendelian affections account for only 20 percent and epilepsies for 15 percent. They mainly include cases of hydrocephaly, anencephaly, spina bifida, and microcephaly, for which the recurrence risk is mostly empirical. Emphasis is laid on the present possibilities of prenatal detection of some of these malformations.
Unexplainable Demographic Phenomena of Multiple Births in Hungary
Authors: Czeizel A. 
Published: July 2016

The decrease trend of multiple births temporarily broke off in Hungary in 1970, with an increase from 18.18‰ (1968) to 20.94‰ (1970), i.e., about 400 cases of excess.The male preponderance in twin births is lower than in single births, and triplets actually show a female excess.There are more boys than girls among the first-born of multiple births.According to the 1959 and 1968 figures, both DZ and MZ twin births were significantly more frequent in mothers aged 16 or less than in mothers aged 17-19 years.The monthly distribution of DZ twins is characteristic, while the monochorial MZ twins did not show seasonal variations.
Some Considerations about Twin Zygosity and Concordance Determination in Cancer Research
Authors: Martynova R. P. 
Published: July 2016

Studies on cancer in man and pure strain animals have shown that the malignant neoplasm, both in animals and in human beings, is not a single, genetically homogeneous disease: it consists of a lot of forms differing in localization, histological structure and etiopathogenesis. This circumstance is not always taken into account by the investigators in cancer research by the twin method, and especially in the determination of within-pair concordance/discordance, which is often a source of misunderstandings and faulty conclusions.In order to establish a more objective criterion for estimating the real twin concordance in the studies of such diseases as cancer, we have worked out a quantitative index called Concordance Index:where: CI = Concordance Index %; a = number of twin pairs, MZ or DZ, which are fully concordant for the principal features; b = number of partially concordant twin pairs; n = total number of twin pairs, MZ or DZ.The accuracy of twin zygosity determination acquires a particular importance in cases of low penetrance of the disease. In such cases, even a minor inaccuracy in the zygosity diagnosis may considerably influence the twins' CI, and always in the same direction: any mistake in the determination of twin zygosity always leads to an artificial diminution of the role of hereditary factors. Therefore, we consider that the questionnaire method of twin zygosity determination, as well as any other insufficiently objective method, should not be used in the genetic studies on cancer.
Cytogenetic Studies of a Patient with Chronic Myelocytic Leukemia and his Nonleukemic Identical Twin
Authors: Bauke J. 
Published: July 2016

One of our patients with chronic myelocytic leukemia has a twin brother. The twins, 31 years old, show similar physical appearance. Both have blue eyes, brown hair and are right-handed. Anthropometric measurements and fingerprint patterns are matching. Blood group antigens, serum factors and PTC tasting are identical. Blood group antigens of the parents have also been determined. It has been calculated that the probability that the twins are MZ is higher than 99.8%.The twins were the result of an uncomplicated pregnancy. There are no other siblings. No family history of consanguinity, hematological disorders or cancer was given. They spent their childhood on a farm. Both have not been exposed to drugs, benzene or radiological procedures, apart from routine X-ray films of the chest.Our patient, who is still working on his farm, had been referred to a hospital in June 1959, because of a knife wound of the chest with a myocardial laceration and pericardial tamponade. White blood cell count at that time was 22300 with 3% basophils.In April 1962, the diagnosis of chronic myelocytic leukemia was established. Findings included hepatosplenomegaly, leukocytosis with a marked shift to the left, hyperplasia of granulopoiesis in the bone marrow and diminished leukocyte alkaline phosphatase activity. In the following years the patient was treated with cyclophosphamide, splenic irradiation and busulfan. Busulfan is continued at present at low doses.
Hydroxyurea: Inhibition of DNA-Synthesis and Selective Susceptibility of S-Phase Cells In Vivo
Authors: Philips F. S. , Schwartz H. S. , Sternberg S. S. 
Published: July 2016

SummaryThe cytotoxic effects of hydroxyurea and of related hydroxamic acid derivatives in vivo are briefly described. They occur selectively in tissues with high rates of cell renewal and they are of brief duration. Tissue concentration of hydroxyurea diminish rapidly as the result of renal excretion and metabolism; there is a close temporal relation between the physiological disposition of the agents and the cytotoxic changes. Hydroxyurea induces an immediate inhibition of DNA synthesis in proliferating tisdsues such as thymus, small intestine, and regenerating liver. Autoradiographic studies of mouse duodenum using tritiated thymidine have shown that the lethal susceptibility to hydroxyurea is restricted to cells in the S-phase of the mitotic cycles. Cells in G1, G2, and M are not damaged by the agent.
Pelger-Huet'sche Kernanomalie: Vorläufige Ergebnisse einer Durchsicht von 15.000 auslesefrei gewonnenen Blutausstrichen
Authors: Ebbing H. C. 
Published: July 2016

Die Pelger-Huet'sche Kernanomalie ist bei Aezten und Laborantinnen nahezu unbekannt. Nur zwei von etwa 350 in Westfalen systematisch befragten Krankenhaus-Aerzten waren mit diesem Begriff vertraut. Jofin (1955) berichtet aus Russland über die gleiche Unkenntnis. Seit der ersten Beschreibung der Varietät durch Pelger (1928) sind in dreißig Jahren nach Petzel und Undritz (1957) bisher 110 unabhängige Pelger-Sippen veröffentlicht worden. Das Merkmal wurde beobachtet in Bevölkerungen aller Rassen.Die erste Schätzung der Häufigkeit in einer unausgelesenen Population hat Undritz (1939) vorgenommen. Der Untersucher rechnet mit einem Vorkommen von einer Pelger-Familie unter tausend in dieser Beziehung unauffälligen Sippen. Nachtsheim (1946-1948) hat zuerst eine größere Bevölkerung auslesefrei untersuchen können: unter etwa 20.000 Berlinern aller Altersstufen fanden sich 18 heterozygote Merkmalsträger. Die Probanden waren nicht miteinander verwandt. Nachtsheim bestätigte damit die Schätzung von Undritz. Wiedemann und Saile (1957) untersuchten 15.000 Schüler in Krefeld. Die Jungen und Mädchen waren zwischen 9 und 19 Jahre alt. In diesem auslesefreien Kollektiv sind nur 3 heterozygote Merkmalsträger gefunden worden. Die Häufigkeit beträgt also 1: 5.000. Davidson (1954) fand unter 36.000 Blutausstrichen in London 6 Fälle mit Pelger'scher Varietät. Der Untersucher gibt die Häufigkeit mit 1: 6.000 an. Leider fehlen Angaben über die Methodik der Untersuchung. Yamasowa (1953) soll nach einer Mitteilung an Undritz (cit. G. Petzel und E. Undritz, 1957) bei 20.000 Japanern nur einmal die heterozygote Manifestation beobachtet haben. Die Frequenz der Pelger-Anomalie läßt sich nur bestimmen durch größere Reihenuntersuchungen. Vergleichbar sind bisher lediglich die Ergebnisse von Nachtsheim und Wiedemann. Diese Befunde weichen stark voneinander ab.
Diagnosi di sesso e morfologia dei nuclei leucocitari: studio in campo normale e patologico
Authors: Sansone G. 
Published: July 2016

SUMMARYThe experience of the A. on the « genetical » sex determination (according to the method of Davidson e Smith) is summarized. It is stressed that: a) « drumsticks » in the female newborns are remarkably increased - b) in monozygous twins there is a strict similarity in the number of the « drumsticks » contrary to the cases of dizygous twins.The results obtained in cases of gonadal disgenesis are reported: of 16 patients with somatic female appearance 12 were cromatine-negative. The diagnostic importance of genetical sex determination in suspected cases of « Status Bonnevie-Ullrich » of the infants is outlined, In a reported case the diagnos's was made in the neonatal life.
Detection of OH Maser Emission from Cornet Giacobini-Zinner
Authors: Norris R. P. , Forster J. R. , Duncan R. A. 
Published: July 2016

AbstractWe have detected OH maser radiation from the comet Giacobini-Zinner using the Parkes radio telescope. The emission was detected in two transitions of the ground state of OH, at an intensity consistent with the predicted OH molecular production rate. We also searched unsuccessfully for OH emission from comet Halley, from which we are able to place a significant upper limit on the intensity of OH emission.
The Adelaide Observatory after Todd
Authors: Edwards P. G. 
Published: July 2016

AbstractCharles Todd, who established the Adelaide Observatory on West Terrace in 1860, retired as Government Astronomer at the end of 1906. In 1908 the meteorological duties of the Observatory were taken over by the Commonwealth, and the Observatory lost most of its staff. Following the promotion of George Dodwell to the position of Government Astronomer in 1909, the Observatory was slowly re-established and undertook a range of astronomical and other work, which is described in detail in this paper. The Observatory was transferred to the University of Adelaide in 1940 and this is often taken as the closure of the Observatory. Dodwell finished working as Government Astronomer in 1952.
The Extragalactic Flux of Cosmic Rays
Authors: Clay R. W. , Smith A. G. K. 
Published: July 2016

AbstractThe propagation of extragalactic particles within our Galaxy has been modelled. The flux of such particles is below the observed cosmic ray flux at most energies when their power-law spectrum is extrapolated back from the highest energies. Also, we expect that the propagation of extragalactic particles through static magnetic fields in the Galaxy will not result in a flux change to match the flux of particles measured here within the Galaxy. However, if we were to consider the observed cosmic rays to be of Galactic origin, there would be a remarkable similarity between the required Galactic injection flux and the extrapolated extragalactic flux. We consider here whether the scattering of extragalactic particles in the Galaxy together with an associated energy perturbation might be sufficient for the extragalactic beam to result in the production of ‘Galactic’ particles and, hence, essentially all of the observed cosmic rays. This appears to be possible.
Procedure for deriving the Forbush decrease spectrum at shallow underground depths
Authors: Duldig M. L. 
Published: July 2016

AbstractOn July 14, 1982 a Forbush decrease event of unprecedented magnitude was observed worldwide in the cosmic ray records up to particle rigidities of several hundred GV. At the same time the recently commissioned underground proportional counter telescope at Mawson, Antarctica, was recording a newly discovered cosmic ray modulation superposed on the Forbush event (Duldig, Jacklyn and Pomerantz 1985; Jacklyn, Duldig and Pomerantz 1987). The presence of the two phenomena led to complication in deriving the spectrum of the Forbush decrease for particle rigidities corresponding to the shallow observing depth. A technique for resolving such difficulties is presented and applied to the July 1982 decrease and the recurrence event 27 days later. The resulting spectral index γ was found to be ≈ −0.9, similar to the results of the extensive analysis of Russian surface and underground data by Kuzmin et al. (1983).
On the Existence of Bright (Mbol < –6) Upper AGB Stars
Authors: Hughes S. M. G. , Wood P. R. 
Published: July 2016

AbstractA photometric survey of a central region of the LMC has been undertaken to obtain a magnitude and colour limited sample of bright asymptotic giant branch (AGB) stars; the stars were selected from V and Ic plates taken by the UK Schmidt Telescope Unit (UKSTU) at Coonabarabran. Infrared JHK photometry has been obtained for all the stars in the sample in order to determine bolometric magnitudes, and spectra have been obtained for most of the stars to obtain spectral types. Stars in the sample have bolometric magnitudes up to the AGB limit of Mbol ∼ – 7.1, and many of the stars show evidence for dredge-up of carbon and s-process elements during helium shell flashes. A bolometric luminosity function has been constructed and its behaviour is discussed in terms of possible mass loss scenarios.
Observations of SN 1987A in the Near-infrared
Authors: McGregor Peter J. 
Published: July 2016

AbstractHigh quality near-infrared (1-5 μm) spectra of SN 1987A have been obtained at MSSSO, AAO, ESO, CTIO and SAAO with good temporal coverage. These near-infrared observations are reviewed with particular reference to spectra obtained by the MSSSO group on the ANU 2.3m telescope at Siding Spring Observatory.
Fast Photometry of the Crab, SN 1987A and Aussat
Authors: Hill K. M. , Giles A. B. , Watson R. D. 
Published: July 2016

AbstractThe appearance of SN 1987A led to the implementation of a fast sampling option in the data collection system of the photometer on the University of Tasmania’s optical telescope. This option permits acquisition of continuous data trains of over one hour’s duration at sample rates of 5 kHz. Monitoring of SN 1987 A at regular intervals has permitted upper limits to be assigned to any pulsed fraction of the optical flux. Successful test observations of the Crab pulsar have been obtained, as well as observations of the geostationary Aussat satellites during their bi-annual specular-reflection episodes. For the latter, very accurate spin rates (∼1 Hz) are determinable in short data runs because of the higher frequency components (∼100 Hz) in their light curves. These components are produced by the rows of solar cells on the outer surfaces of the satellites, and fast-Fourier transform analyses essentially permit the numbers of rows of cells to be counted precisely.
Observations of Meteors using an over-the-horizon Radar
Authors: Thomas R. M. , Netherway D. J. 
Published: July 2016

AbstractWhen metre wavelength radars were first operated in the 1940s, echoes were obtained which could be attributed to backscatter from ionised trains produced by the ablation of meteroids in the upper atmosphere at altitudes near 100 km. Modern over-the-horizon skywave radars operating in the HF (High Frequency) band employ digital techniques for both radar control and signal processing and are aided by frequency management subsystems for the selection of appropriate frequencies for meteor detection based on real-time monitoring of the HF signal environment.This paper describes the results of using such a radar for meteor observations. We report the detection of the Eta Aquarid meteor shower and demonstrate that a large increase in the echo rate due to sporadic meteors is obtained as frequencies are reduced below 15 MHz and the underdense echo ceiling rises in altitude. Finally, we present preliminary observations of highly Doppler shifted echoes which travel at meteoric velocities and which we identify as meteor ‘head echoes’.
Progress of the MOST Galactic Survey
Authors: Whiteoak J. B. Z. 
Published: July 2016

AbstractThe Molonglo Observatory Synthesis Telescope (MOST), operating at a frequency of 843 MHz, is currently surveying the southern galactic plane between 245° <l<360° and −1.5°<b<1.5°. The resolution of the survey is 43″ (HPBW), providing radio continuum maps of unprecedented resolution and sensitivity (1 mJy/beam) in this part of the sky. The survey involves 12-hour synthesis observations of over four hundred fields, each extending over one degree. Eighty of these have been mapped in the past year, bringing the number now completed to three hundred. The survey is revealing many faint structures with intriguing morphology, including filamentary emission associated with the Vela supernova remnant, and a number of very weak (<5 mJy/beam) disc-like objects.