bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetics, Medicine and Public Health From the Geography of Diseases to the Phenotypic Spectrum of Malformation Syndromes
Authors: Freire-Maia Newton 
Published: July 2016

SummaryThe following problems are briefly mentioned and discussed in this paper: (i) the role of genetics in public health, both in developed and in developing countries; (2) genetic aspects of the differential geographical distribution of diseases; (3) clinical and etiological aspects of malformation syndromes; (4) nosological complexity and phenotypic spectrum of these syndromes, with special reference to ectodermal dysplasias; (5) some problems of modern human communities.
A Family with a Balanced C/C Translocation Carrier and an Unbalanced 47, XY, (Cq−) + Son
Authors: Guanti G. , Battaglia E. , Petrinelli P. , Riggillo N. 
Published: July 2016

SummaryAn account is given of a family identified by a newborn malformed male. The chromosome anomalies described are interpreted as indicating that the father has a balanced translocation with a reciprocal exchange between no. 9 and no. 12. The supernumerary chromosome resembling a group F element, which is found in the propositus, is in fact one of the two rearranged chromosomes present in the father. The propositus therefore is trisomic for part of no. 9 and no. 12. His brother has a normal karyotype. Possible meiotic situations leading to the formation of the observed karyotypes are discussed.
Inbreeding Load in Whites and Negroes: A Reappraisal
Authors: Freire-Maia Ademar 
Published: July 2016

SummaryA reanalysis is made of the data obtained in two surveys in Brazil, regarding the inbreeding load of Whites and Negroes. It is shown that the differences detected are probably spurious, and mainly due to environmental factors. The “total” inbreeding load estimated for the pooled sample showed nonsignificant difference between Whites and Nonwhites.
Pharmacogenetics and the Detoxicant Powers of the Organism
Authors: Gedda Luigi 
Published: July 2016

SUMMARYPharmacogenetics represents a field of connection and cooperation between pharmacology and genetics, which will promote knowledge in both fields. It concerns the plusvariant action of drugs in those families in which they produce toxic reactions, as well as the minusvariant action in particularly resistant families, so that drugs become useless at normal doses. These phenomena stress both the mechanism of action of such drugs and the existence of hereditary metabolic defects. Some typical cases are reported, with special concern to twin observations. It is finally suggested that pharmacogenetics may concern three specific branches: (a) regulation, (b) substitution and (c) repair.
Problems and Pitfalls in Blood Grouping Tests for Disputed Parentage: III. Chances of Proving Non-Paternity by Blood Grouping Tests when the Putative Father is Dead
Authors: Wiener Alexander S. 
Published: July 2016

SUMMARYGeneral formulae for the chances of excluding paternity by blood grouping tests have been derived for the case where the falsely accused man is dead, but both his parents are available for testing. With the aid of the formulae, the chances of excluding paternity are shown to be about 31.1%, when tests are carried out for the A-B-O blood groups and subgroups, the M-N types, the Rh-Hr types and the Kell factor. These combined chances are about half the chances of exclusion when the putative father is alive and can be tested, so that it is very much worth while to carry out blood grouping tests in cases of this nature.
Twin Births in Belgium (1960-1961): A statistical study
Authors: Susanne Charles , Corbisier Jean V. 
Published: July 2016

SUMMARYThe present paper deals with an analysis of the statistics concerning twin births in a sample of the Belgian population in 1960 and 1961. The frequency of twin births is of 0.01198 (± 0.00043), the frequency of a DZ birth among twins is 0.65081. Mothers of twins generally are older than mothers with children resulting from single gestation, the age difference concerning, as could be demonstrated, the distribution of DZ twins with the exclusion of MZ twins: whereas the frequencies of the total amount of twin births and of the total amount of DZ births increase with the mother's age, being highest in the 35-39 age class, the frequency of MZ births seems to be independent of the mother's age. The frequency of twin births also increases with the order of birth or gestation. Given that the mother's age and the order of birth are correlated, the influence of one of the two factors involved upon the frequency of twin births could be determined by keeping the other factor constant; the data from Mac Arthur (1953) were used to that effect.Finally, a bibliographic survey revealed that whereas the frequency of DZ births is very variable, that of MZ births is more constant.
Chromosomal Evidence of Donor Cells Proliferation following Bone Marrow Transplantation
Authors: Schwanitz G. , Hartwich G. , Becker J. 
Published: July 2016

SUMMARYAfter an intense cytostatic treatment of the patient F.N., whose bone marrow was completely infiltrated with lympho-sarcocytes, a bone marrow transplantation was made. The donor was the patient's sister. The difference in sex chromosomes made it possible to observe the fate of the transferred cells. Immediately after the treatment, till 6½ months later, cells with feminine caryotype were traceable in the patient's peripheral blood (up to 2%). This proves the proliferation of donor cells in the acceptor.
Taste Sensitivity to PTC in 2000 Families
Authors: Gaffuri G. 
Published: July 2016

SummaryTaste sensitivity to PTC has been studied on a number of families from the same population, half of which showed in their members evident biological, pathological or degenerative variants. The percentage of non-tasters is of 22% in the healthy sample and of 26% in the loaded one, but this difference does not appear to be statistically significant. The biological loads considered should therefore not influence PTC sensitivity thresholds and taste perception.
The Gc Serum System and ABH Antigen Secretion —A Mother-Child Study
Authors: Nerell Hans 
Published: July 2016

SummaryThe ability to secrete ABH antigen in the saliva has been determined in 160 men and 87 mothers with 45 boys and 42 girls. Mother-child studies on the secretor-nonsecretor distribution and Gc serum types showed a good agreement between observed and expected numbers in the different classes.
Heritable Heteromorphism of the N. 16 Chromosome Pair in Man
Authors: Guanti G. , Balacco-Gabrieli C. , Battaglia E. 
Published: July 2016

SummaryA family is described with heteromorphism of N. 16 chromosome pair. The abnormal submetacentric chromosome was found in a total of 8 family members. Seven out of these carriers show a variable degree of myopia.
G-6-PD Deficiency Gene Dynamics in a Brazilian Population
Authors: Lewgoy F. , Salzano F. M. 
Published: July 2016

SummaryStudies on the glucose-6-phosphate dehydrogenase activity of erythrocytes from 416 males and 820 females are reported. The total number of deficient males (intermediate + complete) varied from 3.9% among the whites (102 persons) to 15.1% among Dark Mulattoes (99 individuals); the incidence in the Negroid sample in general (316 persons) was 12.4%. The data obtained among the women were utilized to study problems of penetrance of the G-6-PDD genes. Results obtained in both sexes were employed to verify, unsuccessfully, possible selection differentials through age analysis and the comparison of the gene incidences of people affected with minor ailments and controls. Problems of gene flow analysis in populations like this one in which the “Negro” and “White” forms of the deficiency are present were stressed.
Hereditary Influences on the Hematic Level of Adenosinetriphosphate: A Twin Study
Authors: Gedda L. , Casa D. , Brenci G. 
Published: July 2016

SummaryDosage of the hematic level of ATP has been afforded in 20 (7 MZ and 13 DZ) twin pairs aged 4-6 years. The intrapair correlation coefficient has been calculated and resulted to be significantly higher in MZ than DZ twin pairs. The hereditary “quantum” in the determination of the hematic level of ATP was also estimated and resulted to be of about two thirds.
Chronon and the Problem of Anticipation (On two family cases of diabetes)
Authors: Gedda L. , Casa D. , Brenci G. 
Published: July 2016

SummaryThe Authors analyze the phenomenon whereby, in progressing from generation to generation, a hereditary disease may appear at an earlier, equal or later age (anticipation, repetitionorposticipation, respectively). They believe that this represents the phenotypic effect of a temporal dimension of the gene, the “chronon”, which may reveal stability, plus-variance or minus-variance according to the standard genetic models. This interpretation provides an explanation of two family cases of diabetes mellitus, respectively exhibitinganticipationandposticipation, andrepetition.
Taste Thresholds in Twins and Siblings
Authors: Kaplan A. R. , Fischer R. , Karras A. , Griffin F. , Powell W. , Marsters R. W. , Glanville E. V. 
Published: July 2016

SummaryMonozygotic twin (MZ), dizygotic twin (DZ), and sibling (SIB) pairs were taste-tested for hydrochloric acid, 1-quinine sulfate, and 6-n-propylthiouracil (PROP). The numbers of pairs involved were 75 MZ, 70 DZ, and 78 SIB, for the latter two compounds; 26, 45, and 45, respectively, for the acid.There was a significant difference in intrapair variance, between the MZ and the same-sex DZ pairs, in thresholds for bitter-tasting 6-n-propylthiouracil (p < .001). The difference in intrapair threshold variance was not significant for bitter-tasting quinine (p > .05) or for sour-tasting hydrochloric acid (p > .10).The male MZ pairs had a significantly lower intrapair threshold variance than the male DZ or male SIB pairs for hydrochloric acid (p < .01), but the female pairs manifested no such difference. The intrapair variance in hydrochloric acid threshold was significantly less for the nine male MZ pairs than for the 17 female MZ pairs (p < .02).Repeated taste tests on the same subjects reproduced results similar within a single threshold range in a high proportion for each compound: for hydrochloric acid, 72.9% (N = 44); for quinine, 76.9% (N = 221); and for PROP, 76% (N = 225).Correlations between thresholds for the different substances were positive and significant (N = 308): between PROP and quinine, r = + 0.44 ± .05 (p < .01); between quinine and hydrochloric acid, r = + 0.35 ± .05 (p < .01); between PROP and hydrochloric acid, r = + 0.17 ± .06 (p < .05).
Concepts and problems of medical genetics
Authors: Gedda Luigi 
Published: July 2016

SUMMARYThe concepts and problems of Medical Genetics are considered in the light of modern advances in Biochemistry, the classic aspects of the gene, cistron, muton and recon, having been completed by the concepts of Operon and chronon, with respect to the traffic of structural genes and to the temporal dimension of the hereditary unit, respectively.The impact of these various aspects of the gene is considered with respect to ontogenetic processes, heredity of diseases and heredity of disposition to-diseases. Ageing is also considered as a disease, due to the extinction of the genes, and therefore apt to be treated with a substitutive therapy.
Cleidocranial dysostosis in a family with twins
Authors: Spital J. , Schellong G. , Scholz W. , Mai H. , Verschuer O. Frh. v. 
Published: July 2016

SummaryA family is reported in which 5 individuals out of 2 generations were found to suffer from dysostosis cleidocranialis. In that kindred twins occurred twice, one twin pair being DZ and suffering from the disease, the other pair MZ and healthy. The number of affected family members is in agreement with the autosomal dominance of the trait as indicated by numerous earlier observations. The characteristics found were: reduced growth, macrocephalus with late fontanel occlusion, protrusive frontal bone, hypertelorism, dysplasia of the clavicles and the pelvis, retarded development of hand skeleton. There was a certain variability in the expression of the traits in both DZ twin sisters, particularly concerning the malformation of clavicles and pelvis. Their children showed rather uniform alterations concerning head and hand skeleton, clavicles and pelvis.Blood group tests performed did not reveal linked inheritance of the pathological trait and any of the used serological markers.
The Genetic Disease, Hypoascorbemia:A Fresh Approach to an Ancient Disease and Some of its Medical Implications
Authors: Stone Irwin 
Published: July 2016

SummaryIt has been recently shown that the human requirement for exogenous ascorbic acid and the disease, scurvy, are the result of a typical genetic disease syndrome caused by a defect on the gene controlling the synthesis of the enzyme protein, L-gulonolactone oxidase. The lack of this active enzyme in the human liver prevents Man from producing his own ascorbic acid; a synthesis which is regularly carried out by nearly all other mammals. This genetic disease has been named, Hypoascorbemia. This new concept of the genetic etiology of scurvy gives a much broader outlook and opens perspectives which were lacking in the previous fifty year old nutritional or trace “vitamin C” hypothesis. “Correction” of this genetic defect in Man is now possible since the availability of ascorbic acid in large quantities. By “correction” is meant the long-term administration of ascorbic acid in the large amounts the human liver would be synthesizing had this genetic defect not occurred. The mammals have long used the increased liver biosynthesis of ascorbic acid, under stress, to maintain homeostasis. The genetic defect prevents Humans from utilizing this important mammalian biochemical protective mechanism. Supplying exogenous ascorbic acid at the proper high dosage for full “correction” is merely duplicating a normal mammalian reaction. The medical implications of the full “correction” of this genetic disease are discussed and speculations on the effects of “correction” in the rheumatoid diseases, cardiovascular conditions, strokes, cancer and the aging process are extrapolated from the meager data already in the medical literature. This paper is mainly a plea for more thought along the medical possibilities opened by this new concept and for more clinical tests based on the rationales derived from the genetic disease viewpoint.
Macular Dystrophy in Deafmutism
Authors: François J. , Haustrate-Gosset F. , Donck D. 
Published: July 2016

SummaryMost of the cases of Amalric's pigmentary macular dystrophy associated with deafmutism seem to be due to a rubella or to another viral infection of the mother during pregnancy. This association can sometimes probably also be due to an infectious disease of the early childhood. Heredity seems to be a rather exceptional factor.
Cardiological Findings in Twins, with Special Reference to their Zygosity and Peristasis
Authors: Preis A. , Šrubařová M. 
Published: July 2016

Summary37 DZ and 12 MZ twin pairs underwent a clinical and ECG heart examination. As to their zygosity, it is suggested that a concurrent similar clinical finding, very similar ECG and a mean intrapair difference of corresponding unipolar chest lead waves d ≤ 1.5 definitely support monozygosity.Paired analysis of the ECG curves shows that the difference between MZ and DZ twins is best characterized by Tv1-6 and, to a certain extent, by Rv1-6. The same applies — in partial agreement with Mathers et al. — for PQ and QTc intervals.Considering the intrapair differences in both MZ and DZ twins, it was found that they tend to increase in the course of one cardiac cycle, thus indicating a gradual prevalence of peristatic factors.
On the syndrome caused by a deletion of the short arm of a 4-5 chromosome
Authors: Ricci N. , Ventimiglia B. , Dallapiccola B. , Franceschini F. , Preto G. 
Published: July 2016

SUMMARYDuring routine karyotypic analysis of patients with mental deficiency and congenital malformations, a partial deletion of the short arm of a B (4-5) chromosome was observed in two children (a male, 23 months old, and a female, 4 months old).Clinical pictures and chromosomal abnormalities were found to be consistent with the findings in the « cri du chat » syndrome.
Hereditary malformations of the spinal cord. A contribution to the study of familial congenital axial schinosynostosis
Authors: Santori F. S. , Fredella D. 
Published: July 2016

SUMMARYA sibship is described three sibs of which being carriers respectively of occipital meningocele, craniorachischisis and Klippel-Feil Syndrome. The last two sibs presented malformations of the heart and the digestive and genitourinary apparatuses. Genetic and anatomo-pathologic considerations.
Albright's Hereditary Poly-Osteochondrodystrophy — (Pseudo-pseudo-hypoparathyroidism with diabetes hypertension, arteritis and polyarthrosis)
Authors: Goeminne Luc 
Published: July 2016

SUMMARYA large kindred (4 generations) with pseudo-pseudo-hypoparathyroidism (PPHP) and the clinical, biological and anthropometric features of this syndrome are extensively described.The association of PPHP with diabetes, hypertension, hypothyroidism, polyarthrosis and peripheral arteritis is very probably significant.Gonadal dysgenesis with brachymetacarpy must clearly be distinguished from PPHP.The transmission of PPHP is probably not sex-linked dominant but autosomal dominant with an incomplete penetrance of about 50%, a varying expressivity and weak familial specificity. Partial sex limiting or sex predominance may occur, instead of true sex-linkage in this condition.
Morbilità e Mortalità nella Prole di 300 Coppie di Coniugi Consanguinei nel Comune di Firenze
Authors: Bigozzi U. , Conti C. , Guazzelli R. , Montali E. , Salti F. 
Published: July 2016

SummaryA family investigation has been carried out on 301 consanguineous and the same number of nonconsanguineous couples, who married in Florence in the years 1939 through 1958. The sample turned out to be homogeneous as regards age of the couple, year of marriage, period of cohabitation, social level, and methods of survey.The average rate of consanguinity in Florence in the above years was of 0.458 × 10−3, with a decrease from 0.595 to 0.327 × 10−3 between the first and the second decade.While the number of pregnancies is not significantly different in the two groups, abortions are more frequent among blood relatives. As a result, the number of stillbirths being not significantly different, the birth rate is higher among the controls. Infant mortality is more than double in blood relatives. As regards morbidity, hereditary defects or anomalies show an average increase of 2.6 times in the offspring of blood relatives: the increase being higher for serious hereditary defects (3.44) than for lighter ones (1.98). The finding of slight delays in mental development was 4.8 times more frequent in the offspring of blood relatives.By applying Morton-Crow-Muller's formula, it was possible to calculate the A and B values, and to find out, in the observed population, the presence of 2.2-2.4 pathological gene equivalents per gamete as to early mortality (abortions + stillbirths + infant mortality); 1.6-1.7 gene equivalents as to hereditary defects in general; and 0.82-0.85 gene equivalents as to slight delays in mental development.
Chromosomal and Dermatoglyphic Changes in Twins
Authors: Yarema W. A. , Borgaonkar D. S. 
Published: July 2016

SummaryA review of 15 chromosomally abnormal twin pairs indicates that finger and hallucal patterns of the affected twin are more similar to other patients than to the normal cotwin.Correlation coefficients of TFRC and atd angle differences tend to remain similar in spite of the presence of chromosome abnormality in the cotwin. This supports the use of dermatoglyphic analysis as a means for diagnosing twin zygosity. Correlation coefficients of intrapair TFRC and atd angle differences in 25 control MZ twin pairs shows good agreement in zygosity determinations, when compared to results obtained by blood group and clinical observation studies.In a series of 155 female and 142 male MZ twin pairs, TFRC and atd angle differences plotted on a graph against the frequency of occurrence illustrate that the range of variation is greater among females. Further study of a large series of twin pairs, however, is necessary to determine whether this is an effect of lyonization or the alteration of the polygenic complex of dermal configuration by the X chromosome.
ABO — Rh Interaction A study of Jive cases
Authors: Chattopadhyay Prasanta Kumar 
Published: July 2016

SummaryFive families with cases of erythroblastosis foetalis have been studied for the ABO, Rh, MN, and Kell-Cellano blood group systems. In all of them, the father and mother were found to be compatibly mated, and so were the children with their mother, in all systems, except Rh.Most children were of CDe/cde type, and all mothers cde/cde. The influence of other systems (MN and Kell-Cellano) on Rh incompatibility remains to be investigated. They might play a role in counteracting the effect of Rh incompatibility.The antibody titre in the mother's blood has clearly appeared to decline gradually, with an increasing time gap between successive pregnancies.Whether the possibility of having a normal full term pregnancy, resulting in the birth of a healthy child, increases, if the time gap between two successive pregnancies is larger, remains to be investigated.
Chronological Aspects of Gene Action: A Twin Study
Authors: Gedda L. , Brenci G. 
Published: July 2016

SummaryThe AA. have studied the characteristical steps of the first and permanent dentition on 408 twin pairs (156 MZ and 252 DZ). These phenomena appear to be significantly genetically controlled. According to the AA., the hereditary units might possess a characteristic potential time span, which is a function of an energetic genetically conditioned charge. This parameter of the hereditary unit is called Chronon.
A contribution to the study of the inheritance of epibulbar dermodis
Authors: Proto F. , Scullica L. 
Published: July 2016

SUMMARYThree familial cases of epibulbar dermoids, associated with lid ptosis, antimongoloid aspect of the palpebral fissure and nasal lobuloschisis are reported.The hereditary character of this malformation is interpreted in terms of polimery.
On a case of a Turner Syndrome with a rare chromosomal finding (partial mosaic)
Authors: Zara C. , Mannini A. , Magrini U. 
Published: July 2016

SUMMARYClinical and chromosomal studies of a case of gonadal dysgenesis. The patient presented primary amenorrhea, rudimentary uterus, ipoplastic tubes and gonadad streak. No Barr bodies or drumsticks were found, and the chromosome analysis revealed a mosaic of the type XO/X + centric fragment. The pertinent literature is reviewed, and attention is drawn to the possible existence of a secretion of the steroid type in the Leydig-like cells present in the gonadal streak.
Gonadal Dysgenesis With a Familial Character
Authors: Serban A. M. D. , Ionescu B. , Ciovîrnache M. , Damian A. , Maximilian C. 
Published: July 2016

SummaryThe Authors report on a case of congenital anorchidism, confirmed by laparatomy, with negative sexual chromatin and an XY karyotype. One of his two sisters, with primary amenorrhea, presented marked hypoplasia of the genital tract, positive sexual chromatin and in 3% of the cells with 2 chromatine corpuscles, XO/XX/XXX karyotype. The presence in the same family of two cases of gonadal dysgenesis appears to have occurred by mere chance.