bluuebunny/crossref_metadata_2025 huggingface dataset:
«Non malattie, ma famiglie di ammalati»
Authors: Gedda Luigi
Published: July 2016

The prolusion held by Prof. Gedda at the beginning of his Course of Medical Genetics at the Rome University is reported. Il deals with the question, what contribution may be brought by Medical Genetics to the culture and education of medical students.

As a first contribution, the introduction and the development of a very concrete and constant criterion of evaluation is considered, namely, the study of the family from which the patient derives, that very often leads to the first hospitalization of the patient himself.

Hereditary diseases, as well as the receiptivity to acquired diseases, reveal such a marked family imprint as to induce the geneticist to paraphrase the old slogan « there are no diseases but diseased persons » into the new one « there are no diseases but families of diseased persons ».

The study of the family, which is so important for both Medical Genetics and the physician, represents also a useful corrective for the tendency in modern medicine to fractionate excessively the medical care. The study of twins is a special case of the study of the family, which acquires a methodological importance.

Secondarily, Medical Genetics, being introduced as a subject of teaching in the last year of the program of studies in the Rome University, represents a useful recapitulation of the studies accomplished in the preceding years. In such a way, these may be advantageously synthetized and considered in the unitary and practical light of the individual heredity.
An uncommon malformation simulating a duplication of the spine
Authors: Iannaccone Guido
Published: July 2016

A case is described of uncommon vertebral malformation simulating a duplication of the spine. Pathogenesis, etiology and terminology of such an anomaly are briefly discussed.
Lo studio del torace dei gemelli con la stratigrafia assiale
Authors: Gedda L. , Bresadola R. , Volta S.
Published: July 2016

The Authors have studied radiographically the thorax of 11 pairs of uniovular twins and of 16 pairs of binovular twins. They have performed and analyzed the standard radiographics of the thorax as well as four transverse laminagrams. The results show a greater concordance of the cardio-vascular shadow and that of the pulmonary hili in the uniovular twins. This concordance is more marked and demonstrative in the transverse laminagrams than in the standard radiography. The Authors think that this finding is due to a lower incidence of the functional variants in transverse laminagrams. Moreover, they have given the name of lingua pectoralis to a peculiar radiographic image of the anterior mediastinus.
Gemellité et situs inversus viscerum chez l'embryon de truite
Authors: Lutz H. , Chambroux S. , Lutz-Ostertag Y.
Published: July 2016

RESUMÉ

L'étude d'un certain nombre de monstres doubles est faite en vue de l'examen du situs viscerum. Très souvent le composant droit présente un situs inversus viscerum alors que la disposition des viscères est normale pour le composant gauche.

Quelle est l'origine du situs inversus viscerum dans la monstruosité double?

Se référant aux travaux de Spemann et Falkenberg (1919), de Mangold, Testa et Woellwarth (1956), de Takaya (1951-1955) sur l'œuf de Triton et à leurs travaux personnels sur l'œuf d'Oiseau, les auteurs pensent qu'il y a lieu de distinguer deux stades essentiels dans la formation de l'endoblaste: à un premier stade, l'endoblaste, coupé ou fissuré, est capable de régulation complète; le tractus digestif est normal.

A un stade, plus avancé, une certaine détermination existe déjà; elle est pourtant encore labile car la régulation peut encore s'effectuer — mais les parties droites du tractus digestif montrent une prépondérance dans le développement.
On the inheritance and development of preaxial and postaxial types of polydactylism
Authors: Sobbota Anatole , De Marinis F.
Published: July 2016

Two types of Polydactyly are described. Preaxial polydactylism is a relatively rare trait, involving a varying degree of duplication of the thumb. X-ray evidence is presented for this condition in a baby girl when first born and 5½ months later, showing the nature of its development. X-ray of the parents revealed that the mother was affected and the father was normal. Evidence points to the possibility that this trait follows a simple autosomaly type of inheritance. Postaxial polydactyly, the more common type, generally involves a duplication of the little finger (5th) with a varying degree of expression. A pedigree of a Negro family is described and X-ray evidence for this trait is given. Each duplicated miniature finger consists of two small but well formed phalanges. The trait seems to be transmitted as an incomplete dominant.
Limitations in the Accuracy of Estimates of Blood Group Gene Frequencies
Authors: Wiener Alexander S.
Published: July 2016

Summary and Conclusions

1. For reporting results of calculations of blood group frequencies no more significant figures should be used than are justified by the size of the series tested.

2. Technical and clerical mistakes have been responsible for gross discrepancies in reports on blood group distribution published in the literature, which qualified investigators can recognize by mere inspection of the data.

3. Maximum likelihood calculations are complex and laborious and require a mastery of mathematics which few workers possess. Even in the hands of experts gross errors have resulted when carrying out the laborious computations, so that such calculations are not only expensive but impracticable and dangerous.

4. The application of maximum likelihood calculations by Boyd to two series of individuals tested for the M-N-S types has yielded estimates of gene frequencies differing only in the third decimal place from the values obtained by the author with the aid of simple square root formulae. When one considers, even disregarding the possibility of technical and clerical errors, that the sizes of these two series justified the use of only two significant figures, it is evident that the maximum likelihood method contributed only a dubious increase in „ accuracy ”. Therefore, such calculations consume misdirected energy and place emphasis on superficialities while disregarding more important factors which can affect the accuracy of the data.

5. Many investigators when studying the distribution of the blood groups make the tacit but incorrect assumption that the population is undergoing random mating and is therefore homogeneous. This appears to be one basis for the recent series of fallacious reports on the supposed relationship between the blood groups and various diseases.

6. Confusion in the blood grouping field is due to the fact that most of the articles and books which are published have been written by individuals who have only superficial knowledge and understanding of the subject. The widespread use of the incorrect G-D-E notations reflects the lack of mastery of Rh-Hr serology shared by these workers.

7. It is significant that the same workers who are enthusiastic for maximum likelihood calculations also endorse the pointless studies on blood group distribution in disease, and the use of the superficially attractive but fallacious C-D-E notations.
Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). II - Ricerche sui fattori ereditari del reumatismo cronico primario
Authors: Serneri G. G. Neri , Bartoli di V.
Published: July 2016

This study is based on pedigrees of 192 patients with rheumatoid arthritis which are compared with pedigrees of 300 controls.

6,3 per cent of all relatives in the first group had rheumatoid arthritis compared to 0,38 per cent of all relatives in the control group. An hereditary predisposition to rheumatoid arthritis is definitevely to be admitted.

This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity. It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesis of degenerative connective tissue disorders (mesenchymotic diathesis).
Cromatina sessuale e tumori
Authors: Torrioli Mario , Lauri Gianfranco
Published: July 2016

The Authors confirm the possibility of a discordance between the sex-chromatin of the cells in the breast-carcinoma and that of the cells of a tumour carrier. It is assumed that the somatic mutation giving rise to the formation of the somatic cell might also involve sex-chromatin.
Malattia da Emoglobina A2 elevata - Microcitemia
Authors: Lucci R. , Soffritti E. , Borgatti L. , Cabassa N.
Published: July 2016

The AA. report 2 cases which are very similar to the Cooley disease and the careful genetic and haematologic observation of parents and relatives has pointed out an increase in the haemoglobinic fraction A2 in the husbands but no microcytaemic peculiarity at all.

After discussing the possible relationship to the microcytaemic stigmata the A2 try to see the case among the veritable haemoglobinopathies of this rare genetic form.
Über besondere Zwillingskonkordanzen
Authors: Grebe Hans
Published: July 2016

Report about some observations with special concordance in 4 pairs of identical twins with kidney-stones, one pair of especialy concordant allergies, hyperthyreosis and cystical-glandular hyperplastic uterus and a pair of identical twin sisters, on-concordant congenital dislocation of the hip, resistant to all therapeutic essays.

The especially concordance of the demonstrated twins is to be explained, that in the cases observed by the author is to suppose a stronger effect of chief gens and a lower manner of modifying by side gens or exogen ly ten years old, with particulary factors than in the ordinary states of twins with corresponding hereditary diseases.

A finally demonstrated pair of non identicaly twin brothers with same deformities of the knees and same clinical symptoms) directs, that beside the same genotypus also the same exposition may realize especially twin concordances.
Ricerche genetiche e clinico-statistiche sulle neoplasie della prostata
Authors: Gianferrari Luisa , Arrigoni Giacomo , Cresseri Angelo , Lovati Giuseppe , Morganti Giuseppe
Published: July 2016

The Authors refer the results of a genetical, clinical and statistical research on a group of 265 patients with cancer of the prostate. The data show a significant familiar incidence only for the cancer of the same site.
Studio sul linkage genetico tra emopatie mediterranee e sistema Rh
Authors: Vulpis Nicoletta
Published: July 2016

The reported data confirmed the strict linkage of Rh genes among themselves while no evidence of linkage was found between M. E. and Rh factors.
Sul diabete giovanile misto famigliare
Authors: Casa Domenico
Published: July 2016

The A. presents the case of two sisters, both affected by mixed juvenile diabetes: diabetes mellitus and diabetes insipidus.

Three of their brothers died of diabetes millitus.

After discussing different etiological hypotheses, the A. indicates the hereditary one as the most likely.

Probably, in the case of the two sisters, there was an association of two hereditary processes, independent of one another, but coexistent.
Ausdruck und Verhalten erwachsener Zwillinge (Eine erbpsychologische Filmuntersuchung)
Authors: Spindler Paul
Published: July 2016

A film has been made of 8 pairs of monozygotic and 4 pairs of dizygotic twins regarding their expression and behaviour, and we tried to examine their behaviour on genetical characters.

We do not agree, that all telencephalitic action is under control of the individuals' arbitribum; instead we stress that genetical characters are also important components.

A « plastic » adaptation to the given circumstances of the surroundings is provided by the qualitative and quantitative manyfoldednes of the telencephalon. The actions of man appear to be much more of free will than they really are.
Cervical arteriovenous anastomosis in one of identical twins
Authors: Rankin Robert M.
Published: July 2016

In recent years various surgical procedures have been attempted to improve the cerebral function of mentally retarded or cerebral palsied children. One of these is the anastomosis of the carotid artery and jugular vein in an effort to improve the cerebral blood flow. This has been reported to have some degree of success, but the results are of questionable value because of the necessary lack of suitable controls. In this paper are presented the case histories of such an operation on identical twins, one operated and the second serving as a perfect control.

The family history of the twins was significant in that there was a strong history of mental disease on the father's side. Several members of his family had been confined to mental institutions. No clinical diagnoses are known but at least one was known to be a sexual pervert. The father had been in a mental institution before and after the birth of the twins and had received electric shock therapy, with no demonstrable improvement. He also was a sexual pervert. The parents were divorced when the twins were twenty months old. Before and after the divorce the twins and their mother were subjected to physical violence by the father. The twins were said to be extremely fearful of the father. There were no other children, and no other pregnancies.

Pregnancy was uneventful. Delivery was at term following a five day labor. Donald, the twin who was subsequently operated, was born first with a birth weight of six pounds, seven ounces. David, born a few minutes later, weighed six pounds, eight ounces.
Su alcuni casi di anomalie dento-mascellari di origine genica
Authors: Hertel A.
Published: July 2016

After having stressed the importance of the hereditary problem in the field of dento-maxillary orthodontics, the A. considers hereditary evidence of the dento-maxillary anomalies and gives a review of literature on the subject.

He further considers the dento-maxillary anomalies trasmitted by genes, dominant and recessive, conected with sex and finally a few cases treated by him personally.

They are cases of family and twin, hypodontia, macrodontia, rotation and twisting, bad positions, hypodevelopment of a halfarcade, prognathism and overbite.
La structure génétique de la population humaine
Authors: Gedda Luigi
Published: July 2016

Jusqu'à nos jours, la connaissance de la population humaine est toujours résultée d'une double recherche, à savoir: la recherche bio-typologique, développée par l'anthropologie, et l'analyse mathématique de certaines données statistiques effectuée par la démographie.

Deux recherches, deux sciences, mais surtout deux niveaux de connaissance: en effet, bien que détachée du plan immédiat de la recherche physiologique, la démographie embrasse les aspects fonctionnels de l'espèce humaine, tels que la naissance, la mort, la fécondité, etc., alors que l'anthropologie est plus particulièrement une entreprise morphologique.

Il y a quelques années, les résultats somatiques de l'anthropologie, et les résultats dynamiques de la démographie, étaient en quelque sorte contaminés par le racisme. Le danger de cette contamination était d'autant plus grave qu'il concernait également des secteurs situés au dehors de la science, comme par exemple celui de la politique. En effet, sans même mentionner les conséquences pratiques dérivant des principes, le racisme a soulevé, du point de vue scientifique, une véritable confusion.

En ce qui concerne la population humaine, un niveau de connaissance, sérieux et nouveau, apparaît aujourd'hui sous les termes de «génétique de la population» ou «génétique démologique» ou «démogénétique»
La curva eritrocitometrica nei gemelli
Authors: Torrioli Mario , Torrioli Giuseppina
Published: July 2016

Già da tempo il sangue dei gemelli è stato studiato dal punto di vista biometrico ed in particolare dal punto di vista eritrocitometrico (Glatzel 1931, Ostertag 1935).

Siamo tornati sull'argomento délla comparazione delle misure eritrocitometriche di coppie di gemelli perché convinti della grande importanza teorica e pratica di questo studio, tanto dal punto di vista strettamente genetico, quanto dal punto di vista medico, dati i ben noti vantaggi del metodo comparativo gemellare.

Le misurazioni vennero eseguite con un microscopio universale Galileo, direttamente sull'immagine reale proiettata su di uno schermo di vetro smerigliato 16 × 18. L'obbiettivo impiegato fu un 99 × e il tiraggio dello specchio proiettore venne aggiustato fino ad ottenere i 2000 ingrandimenti esatti, tarati con un vetrino micrometrico. I preparati furono dei comuni strisci a strato rigorosamente monoglobulare, colorati con May-Grunwald-Giemsa. La colorazione venne spinta un poco oltre i tempi comunemente usati, per ottenere una maggiore nitidezza di contorni nella proiezione dei globuli rossi.

Le misurazioni vennero direttamente eseguite sulla lastra di vetro smerigliato, mediante un regolo millimetrato trasparente.

Con detta tecnica, risultando un micron delle dimensioni di 2 millimetri, riescì esatta la misurazione di mezzo micron e discretamente approssimata quella del quarto di micron.
Ein Beitrag zur forensischen Verwertbarkeit der Rh-Untergruppen
Authors: Hallermann W. , Nagel V.
Published: July 2016

The suitability and reliability of the Rh-Antigens is being discussed in details in the light of a great number of forensic serologic tests carried out in our Institute in cases of discussed parentage (859 contracting parties, 1251 males involved).

The frequency of paternity exclusions observed does greatly conform with the frequency expected. Differences noted are either very small or are in the range of standard deviation.

Authors emphasize that it is necessary to repeat the test especially if a criminal case is concerned or if an accused father can be excluded.
Studies on the heredity of the human blood groups II. The A-B-O groups
Authors: Wiener A. S. , Gordon E. B. , Cohen L.
Published: July 2016

Summary and conclusions

The results of studies on the heredity of the A-B-O groups in a new series of 426 families with 649 children are presented. No exceptions were encountered to the multiple allele theory of heredity of the A-B-O groups and subgroups of A. During the period 1929 to 1952, a total of 1590 families with 3398 children have been tested for the A-B-O groups and only two contradictions to the Bernstein theory of inheritance were encountered, both apparently due to illegitimacy. Statistical analysis reveals a satisfactory agreement between the observed frequencies of blood groups in the children and those predicted under the theory of multiple alleles. While the A-B-O groups are reliable for medicolegal application in cases of disputed parentage, the subgroups of A should not be applied in such cases. The reason for this is that it has been impossible up to now to prepare anti-A1 reagents of satisfactory titer, avidity, and specificity, comparable to anti-A and anti-B reagents which are available. As a result, subgrouping tests, particularly of newborn babies, do not give entirely reliable results.
A deaf-mute and a “hearing-mute” uniovular twin
Authors: Wildervanck L. S.
Published: July 2016

1. Description of an identical, concordant, deaf mute twin suffering from a perceptive deafness. In the family there occurs no more deafness, on the other hand there are many twins, both M T and D T among their relatives.

2. Description of an identical, concordant, “hearing mute” twin. Up to their eigth year they did not talk at all, they learned speaking when they made their entrance into the Institute for deaf-mutes. They are feebleminded. A brother speaks badly and is slow in intellect too, three cousins of their mother were idiotic.
Multiple Birth Frequency according to Parity and maternal Age
Authors: Stocks Percy
Published: July 2016

The Author has examined the published statistics of multiple births in England and Wales 1938-45, in Italy 1948-49 and in New York 1936-37, to see to what extent the apparent increase in frequency of twin births as parity increases amongst mothers of a quinquennial age-group is exaggerated by the mere fact of grouping. He concludes that the effect of the 5 year grouping on the rates is small, and that the data from the three countries indicate that at certain ages the probability that a birth will be multiple tends to increase with the order of the birth.
Data of Twin Births occurring in 2 English metropolitan Hospitals
Authors: Karn Mary N.
Published: July 2016

A sample of 583 twins, delivered in two English hospitals, and divided into groups of like sex and unlike sex, has been analysed as regards distributions, means and standard deviations of mother's age, order of birth, birth weight and length of gestation time.

In birth weight the unlike sex have greater means than the like sex, from which it may be deduced that dizygotic twins are heavier at birth than monozygotic.

The correlation of birth weight in twins is 0.727 for like and 0.676 for unlike sex.

Length of gestation time has a correlation with birth weight of 0.345 for like and 0.403 for unlike sex.

Neonatal mortality (including stillbirths) is high for twins, being 16.6% as compared with 4.5 % in single births. When these rates are sub-divided into groups of birthweight, it is found that the rates for the very low weight groups are a little better for twins than for single births, but those round the mean and above it are about 3 times those for single births of average or above average weight.

The mortality rates are a little lower for twins of unlike sex.
Tendenze incestuose e distacco di una coppia gemellare di diverso sesso
Authors: Volta Amedeo Dalla , Zecca Graziella
Published: July 2016

In a pair of 14 year old DZ twins of different sexes, a particularly profound emotional separation becomes manifest during childhood.

The twins come from a family whose members are considerably introvert, and where very few exchanges of emotional manifestations take place. The male twin offers a more fundamental alteration of personality, and his emotional control is often overwhelmed by antisocial tendencies of relative frequency. In accordance with her family surroundings his twin, instead, possesses a particularly rigid and severe moral conscience.

The twins are spiritually separated when at the age of eight and nine years, the boy attempts certain sexual approaches on the little girl. At first the child consents, but gradually a most intense feeling of guilt rises up in her, which is accompanied by an aversion, rapidly changing into invincibile hatred towards her brother, whom she fears will subject her to further sexual practises.

Notwithstanding the preponderance of the sexual factor, the antisocial behaviour of the boy, also contributed to a certain extent to this separation.

From a psychoanalytic point of view, the girl's behaviour, characterised by a typical inversion of feelings could be in- terpreted as a reaction formation.

As the boy has been classified from a psychiatric diagnosis as bearing a psychopathic personality which occupies a position between neurosis and psychosis, the eventual possibility of a certain degree of familiar and social adjustement is not to be excluded.
Genetic Aspects of Childhood Tumours
Authors: François J. , De Bie S. , Matton M.
Published: July 2016

Present concepts on the etiology of childhood tumours are reviewed. The differences in clinical manifestations of the hereditary and nonhereditary types are illustrated with data on retinoblastoma and on nephroblastoma. Notwithstanding these differences it is most likely that the fundamental etiologic process is the same in both and that it consists in successive mutational events. The possible consequences of the association of retinoblastoma with a deletion of chromosome 13 in some cases are discussed. Several explanations for the association of Wilms' tumour and aniridia are also discussed.
Hydrogen Cyanide Smell Sensitivity in Some Indian Populations
Authors: Vijayalaxmi C. , Murty J. S.
Published: July 2016

The ability to smell HCN has been examined in a sample of 2619 subjects from Hyderabad, Andhra Pradesh, belonging to different Indian ethnic groups. One single antimode, between concentrations of 5% and 10%, has been found. No sex nor ethnic differences were noted. Previous claims of possible sex-linked inheritance could not be confirmed.
Systematics of the Age-Dependence of Some Neurological Disorders
Authors: Burch P.R.J.
Published: July 2016

The age-dependence of malignant diseases has received various interpretations, whereas that of nonmalignant diseases has been relatively neglected. Nevertheless, the age-distributions of diseases in both categories conform to the same stochastic laws.

Many, and perhaps all, natural disorders with a reproducible age-pattern can be described in terms of a simple model: The disease process is initiated in a genetically-predisposed person through the random occurrence of a small number (r) of somatic gene mutations in each of a small number (n) of growth-control stem cells. Each specifically-mutant stem cell propagates a “forbidden clone” of descendant cells. These cells, or their humoral products, attack those target cells that carry complementary recognition macromolecules. The resulting disturbance to target cells leads to the symptoms and signs of autoaggressive disease. In the classical infectious diseases, an extrinsic factor — the invading microorganism — is essential to the release of forbidden clones from restraints imposed by the host's endogenous defence mechanism.

This general thesis is illustrated with reference to the age-distributions of. Wilson's disease; idiopathic facial (Bell's) palsy, recovery and denervation groups; poliomyelitis; Parkinson's disease; schizophrenia; and multiple sclerosis. Clinically-distinctive forms of a given disease, such as Huntington's chorea or Bell's palsy, often have a distinctive age-pattern.

In addition to differences in n and/or r, it can be inferred that each such clinically-distinctive form of a disease is characterized by a distinctive predisposing genotype. The age-dependence of each stage of a progressive disease has a special interest.

Thus, the onset of “definite and probable” cases of Parkinson's disease (Mayo Clinic data) requires two forbidden clones, each of which is initiated in a predisposed person by five specific somatic mutations. Late deaths from Parkinson's disease (as recorded by the Registrar General of England and Wales) require a third such forbidden clone.

Progression in this neurological disorder, as in certain malignant diseases, corresponds to an increase in the number of pathogenic forbidden clones. The internal mathematical and biological consistency of this type of quantitative evidence powerfully corroborates the forbidden clone theory of age-dependent autoaggressive disease.
Tapetoretinal Degeneration in Three Mentally Retarded Sisters with Other Disorders in the Family Tree
Authors: Jancar J. , Walters Ruth M.
Published: July 2016

Three sisters suffering from tapetoretinal degeneration and other eye anomalies, mental retardation, skeletal abnormalities, and unusual dermatoglyphs, are reported.

The family tree of four generations is presented which reveals the following other disorders: diabetes mellitus (2 M), rheumatoid arthritis (2 F), mental retardation (2 M), congenital heart disease (1 F). A great niece of the propositi is known to suffer from tapetoretinal degeneration, mental retardation, epilepsy, cerebellar ataxia, and deafness. One miscarriage and one infant death are also noted.

The mode of inheritance and relationship to other syndromes with tapetoretinal degeneration are briefly discussed. The chromosomal studies, relevant biochemical and other investigations, are within normal limits.
Spinal Cord Involvement in Heritable Skeletal Dysplasias
Authors: Todorov A.B. , Kopits S.E. , Udvarhelyi G.B.
Published: July 2016

The neurological complications encountered in selected heritable skeletal dysplasias are described. The neurologic deficit may be caused by static (localized spinal cord compression; small spinal canal syndrome) or dynamic (atlantoaxial dislocation) involvement of the spinal cord. The neurologic symptoms have to be recognized early, as neurosurgical management is possible and may definitely improve the neurological condition.
Unusual Aspects of Goldenhar's Syndrome
Authors: Grignolo A.
Published: July 2016

A case of oculo-auricolo-vertebral syndrome is presented.

A child, aged 8 months, was found to have epibulbar dermoid and subconjonctival lipodermoid in the right eye associated with preauricular appendices and a peculiar appendice located at the point of the nose.

Radiographic examination showed cuneiform anomalies of the cervical vertebrae, schisis of the dorsal vertebrae, and a marked calcification of the cerebral faulx. The child's mother presented similar vertebral anomalies and a supranumerary rib.
Myasthenia Gravis and the HL-A System
Authors: van den Berg-Loonen Ella , Engelfriet C.P. , Feltkamp T.E.W. , Nijenhuis L.E. , Oosterhuis H.J.G.H. , van Rossum A.L. , van Loghem J.J.
Published: July 2016

On the basis of a research on 100 patients a correlation is shown to exist between myasthenia gravis and HL-A 8.

The findings further support the supposition that myasthenia gravis should be divided into two types, respectively showing an increase of HL-A 8 and an increase of HL-A 2.
Genetic Studies of Acute Werdnig-Hoffmann Disease
Authors: Pearn J.H.
Published: July 2016

A large genetic survey of all infantile and childhood spinal muscular atrophies has been undertaken. Two large series have been studied, one consecutive series of 160 patients presenting to the Hospital for Sick Children, London, and approximately 60 patients from the Muscular-Dystrophy-Group Research Laboratories, Regional Neurological Centre.

Using the techniques of sibling-sibling correlation it has been shown for the first time that the acute fatal infantile form (classical acute Werdnig-Hoffmann disease) is a distinct genetic entity. It is then possible by such genetic techniques to define accurately the clinical syndrome.

Implications for genetic counselling are discussed. Gene frequency studies have been undertaken from this research project and it is now known that the carrier rate for the acute Werdnig-Hoffman disease gene is in the range 1:60 to 1:90 in the British population.
XYY Caryotype and Medulloblastoma
Authors: Rosano M. , Delellis M. , Massara B. , Ditondo U. , Casini C.
Published: July 2016

The case is described of a child who presented a slight psychomotor retardation and malformative signs, together with an XYY caryotype, and who died at the age of 7 years from a medulloblastoma, as could be later confirmed by autoptic examination.

The relations between chromosomal and neoplastic pathology are described.
Analysis of Microsymptomatology in CNS Malformations
Authors: Porto G. Del , Brenci G. , Tombolini M. L.
Published: July 2016

A total of 105 sibships with one or more members affected by CNS malformations have been drawn from the Mendel Institute's Eugenic Counseling file and examined. The mode of inheritance and the variability of segregation have been verified according to the presence or absence of spina bifida occulta in one or both parents.

The results obtained lead the authors to suggest that the expression of major genes responsible for the pathology be conditioned by minor genes responsible for localization.
Blast Index, Mitotic Index, and Rearrangement Index in Chronogenetics
Authors: Gedda L. , Brenci G. , Del Porto G. , D'Alessandro E. , Tonto B. Di , Ciacci L.
Published: July 2016

Blast index, mitotic index, and rearrangement index, have been assessed and compared in a sample of male MZ and DZ twin pairs belonging to two age groups: 10 and 60 years. For all three indexes, both the hereditary conditioning and age modifications could thus be confirmed.
On the Epidemiology of Juvenile Amaurotic Idiocy in Denmark
Authors: Kristensen Kirsten , Lou Hans Christensen
Published: July 2016

Juvenile amaurotic idiocy is an autosomal recessive disease with onset around 6 years of age. Principal symptoms are: blindness; dementia; focal and generalized seizures; cerebellar, striatic, and pyramidal deficits; and psychosis. The course is progressive, common duration 10-20 years. Epidemiological studies are very few, but important work has been done by Sjöstrand and Rayner in Sweden.

The preliminary results of the present study indicate a rather higher incidence of the disease in Denmark. It is furthermore demonstrated that there is no evidence of consanguinity between parents, and that the disease is geographically evenly distributed. These findings are in contrast with earlier epidemiological investigations.
Refsum's Disease and Refsum's Syndrome
Authors: Petit H.
Published: July 2016

Three observations of heredopathia atactica polyneuritiformis are reported. Two of these correspond to cases of Refsum's disease, though showing a very different evolution. The third one also seems to be a case of Refsum's syndrome, though showing different contradictory clinical and biochemical features.
Laser Perimetry: Spatial Addition Analysis in the Papilloedema
Authors: Bartoli F. , Liuzzi L.
Published: July 2016

Two cases of suspected oedema of the optic disk are presented and references is made to the spatial summation technique as a means of diagnostic classification. Comparison of the results obtained with white and laser source pointed to the superiority of the latter.
Pathomorphologic Changes of the Cardiovascular System in Twins
Authors: Rose I.
Published: July 2016

The author reports on primary diseases and on secondary reactions of adaptation in fetal hearts of twins. Cases of fibroelastosis endocardica, cases of hypertrophy of the heart, and the circulatory reactions following feto-fetal transfusion in twins, are discussed.

Using histochemical methods, several enzymes of the myocardium in deceased twins have been investigated.
Course of Serologic Incompatibility in Twin Fetuses
Authors: Robaczynski J. , Robaczynska G.
Published: July 2016

The course of hemolytic disease is generally more severe in twin than in single-born infants, because of prematurity prevailing in twin births and resulting prolonged hospitalization.

The course of hemolytic disease in double conflict (ABO and Rh) does not appear to be milder than in single Rh incompatibility. In one case it was even found to cause more extensive damage to one fetus, as compared to the other with simple Rh conflict.
Ultrasonographic Diagnostics of Multiple Pregnancy
Authors: Kittrich M.
Published: July 2016

B-scannings were performed on 86 pregnant women with clinical suspicion of twin pregnancy. In 22 out of 23 twin cases the ultrasonic diagnosis was right. The earliest diagnosis was in 17th week of pregnancy. The possible difficulties of diagnostics and faults are discussed.
Oxytocinasemi a in Multiple Pregnancy
Authors: Klimek R. , Bryniak C. , Kallista-Milewicz W. , Milewicz S. , Paradysz A.
Published: July 2016

The determination of oxytocinasemia is the method of choice in monitoring multiple pregnancy. An increase in the level of the enzyme indicates a normal development of the pregnancy.

Although, as a rule, the oxytocinasemia level is higher in multiple than in single pregnancy, there are cases with a level pointing to intrauterine fetal danger, if, in a gestation beyond the seventh lunar month, it is lower than 4 μmol∣l∣min.

The birth of a newborn with a body weight below 2500 g, when the oxytocinasemia level exceeds 12 I.U., indicates that a multiple pregnancy is involved.
The Bristol Quadruplets Twenty-four-Year History
Authors: Corner B.D.
Published: July 2016

A 24-year-study has been made of female quadruplets, two homozygous and two heterozygous, delivered by Cesarean section at 36 weeks gestation to a gravida 2 with severe preeclampsia and hydramnios. The babies were small for gestational age.

The development, management, education, and social environment are described. All are above average height, and physical and emotional problems have been few. The intelligence and education attainment of the first (also the smallest) baby are in the superior range, the others were high average. Two girls have married, one of whom has two normal sons.
Changes in the Level of Immunoglobulins in the Danzig Quintuplets in Their First Year of Life
Authors: Bowszyc J. , Bowszyc Janina
Published: July 2016

The level of immunoglobulins G, A, and M, were determined in the Danzig quintuplets using the method of single radial diffusion in the 5th, 6th, and 16th month of life. The IgG, IgM, and IgA level increased more slowly than in full-term healthy infants, but in the second year of life the level of IgG and IgM in the quintuplets corresponded already to normal values. The highest of IgG and IgM levels at the age of 16 months were found in the child with the lowest birth weight and in the children with most severe pneumonia in their first year of life.
Pituitary Gonadotropins and Multiple Births in Nigeria
Authors: Nylander P.P.S.
Published: July 2016

Radioimmunoassay of FSH and LH serum levels has been carried out on 15 Nigerian women, 6 of them mothers of singletons and 9 mothers of twins (2 of two sets). Higher FSH levels have been found in mothers of twins, which supports the view that a higher production of pituitary gonadotropins, resulting in a higher incidence of multiple ovulation, may be responsible for the higher incidence of twinning in Negro populations.
The Genetic Characteristics of South-Moravian Twins
Authors: Brunecky Z. , Zahalkova M.
Published: July 2016

A total of 400 DZ and 76 MZ twin pairs were studied for: maternal age, in which no significant differences were found; birth order, which was significantly higher in DZ twins; weight at birth; frequency of ABO blood-group phenotypes, where no significant differences were found; and, lastly, frequency of twinning in relatives, where, there was significantly higher occurrence, namely in siblings of probands.
Studies on Karyotypes in Children from Triplet Pregnancies and in Their Parents
Authors: Bowszyc Janina , Mieroslawski W.
Published: July 2016

A total of 70 karyotypes of infants from triplet pregnancies and their parents from 17 families were examined. The karyograms of 16 families showed a normal number of chromosomes and no abnormal morphology. Only in the 17th family a girl showed an additional chromosome in group G and deletion of the long arms in another from group C. A high concentration of developmental malformations was however present in this family.
Il Peso Neonatale nelle Fratrie di Gemelli
Authors: Casa D. , Lun M. T.
Published: July 2016

Nelle ricerche sulla gemellazione la madre dei gemelli è la candidata, ma il carattere ereditario si manifesta nella generazione successiva.

Partendo da considerazioni probabilmente diverse, molto studio è stato dedicato direttamente alla candidata, ai suoi caratteri fisici e fisiologici. La generazione successiva è stata invece alquanto trascurata, sicché, quando abbiamo voluto considerare l'andamento del peso alla nascita dei fratelli di gemelli, non ci è stato possibile rin-tracciare precedenti bibliografici.

Il peso alia nascita è sotto l'influenza di innumerevoli fattori ed ovviamente non è un carattere ereditario. Ma, se la gemellazione è provocata da un sistema ormonico controllato dal genotipo, è probabile che questo sistema agisca anche sul peso alla nascita dei fratelli di gemelli.
Étude de la Maturation de l'EEG chez les Jumeaux
Authors: Carels G. , Defrise-Gussenhoven E. , Vandervoort R.
Published: July 2016

De nombreux auteurs estiment, sur la base de ressemblances électroencéphalo graphiques observées au sein d'une même famille ou chez des paires de jumeaux MZ, que l'EEG est déterminé génétiquement (Lennox et al, 1945; Weiss et Rudkowka, 1962; Vogel, 1965; Heuschert, 1965). Beaussart et al (1959) pensent même que cet examen peut servir de critère pour le diagnostic de monozygotie.

Nous avons tenté de vérifier si l'étude de la maturation de l'EEG conduisait aux même conclusions. Nous avons comparé le degré de maturation de l'électrogenèse corticale che: des paires de jumeaux concordants et discordants pour les groupes ABO, MN et Rh. Nous nous sommes adressés à des enfants et des adolescents. On sait que, chez ceux-ci, l'EEG comporte, en plus du rythme α, des ondes θ dont les fréquences sont de 4-7/sec, et des ondes δ de fréquences inférieures à 4/sec. Ces ondes lentes diminuent progressivement avec l'âge poui disparaître chez l'adulte normal. À un âge donné, leur nombre est très variable d'un suje à l'autre. Le degré de maturation de l'EEG peut donc être apprécié de façon simple par l'évaluation de la proportion d'ondes lentes du tracé.

Notre étude a porté, d'une part, sur 24 paires de jumeaux concordants sanguins, âgés en moyenne, de 10.5 ans (6-18 ans) et, d'autre part, sur 34 paires de jumeaux discordants âgés, en moyenne, de 9.3 ans (6-16 ans). Les sujets étaient d'origine rurale et appartenaien à un même groupe socio-économique. Le quotient intellectuel moyen était de 92.8 pour les concordants et de 93.5 pour les discordants.
Relevance of Twin Data to Intrauterine Selection Special case of childhood cancer
Authors: Hewitt D. , Stewart A.
Published: July 2016

The purpose of this paper is to draw attention to the statistical implications of abortion risks being greater for twins than singletons, greater for MZ than DZ twins, and greater for one member of a twin pregnancy than both members. This last fact is important, because if one twin aborts the other is usually mistaken for a singleton at birth; thus allowing a given number of nonconcordant abortions to have a marginally greater effect on twin frequency than double the number of concordant abortions.

This feature of abortion hazards is shown in Tab. I, which is based on Sandon's calculations of concordance effects. The figures show how much greater is the effect of a high rate of nonconcordant abortions (Case B) than the effect of an equally high rate of 90% concordant abortions (Case A) or a lower rate of 60% concordant abortions (Case C). In other words, a low frequency of twins in general (and MZ twins in particular) should be typical of an abortion-ridden population and might be a means of recognizing diseases whose prevalence rates are misleading, because they are associated with an abortion hazard (i.e., inherited diseases and diseases acquired during embryogenesis).
Die Bedeutung der Gefässanastomosen in Zwillingsplacenten für die Diagnose der Zygotie und für die Entwicklung der Kinder
Authors: Wenner R.
Published: July 2016

Für die Diagnose von Eineiigkeit bei Zwillingen ist die Feststellung von Gefäss-Anastomosen in den Placenten bedeutungsvoll. Aber nur 50% der Placenten der Monochoriaten weisen Anastomosen auf; das Fehlen von Anastomosen kann deshalb diagnostisch nicht verwertet werden.

Die einzelnen Anastomosenarten (arterielle, venöse, kapillare) finden sich verschieden häufig und können auf die Entwicklung der Zwillinge eine Wirkung haben.

Grosse, arterielle Anastomosen sind häufig, aber fast immer findet man nur eine einzige grosse Verbindungsarterie. Diese ist für die Entwicklung der Zwillinge günstig und wirkt ausgleichend.

Grosse, venöse Anastomosen sind selten und sind für den schwächeren Zwilling gefährlich, da ihm immer mehr Blut entzogen wird. Bei lebenden Zwillingen findet man sie immer nur gleichzeitig mit einer ausgleichend wirkenden arteriellen Anastomose.

Kapillare Anastomosen sind häufig und finden sich in den verschiedensten Kombinationen. Eine Auswirkung auf die Entwicklung der Zwillinge liess sich nicht feststellen.

Bei fehlenden Gefässverbindungen kann die Eineiigkeit-diagnose bei gleichgeschlechtlichen Zwillingen aus dem Placentabefund nicht gestellt werden; dies ist erst durch Ähnlichkeits-diagnose anhand der Erbfaktoren in späteren Jahren möglich.
La Fosfatasi Alcalina Leucocitaria nei Gemelli
Authors: Gedda L. , Cardinali G. , Cardinali G. , Alfieri A. , Brenci G.
Published: July 2016

Dopo la scoperta che i soggetti con leucemia mieloide cronica presentano una delezione del braccio lungo di uno dei cromosomi della coppia 21 (cromosoma Filadelfia o Ph1), è stata avanzata l'ipotesi (Moloney, 1961) che in questo cromosoma siano localizzati il gene, o i geni, che controllano la fosfatasi alcalina leucocitaria (FAL). Sulla base di questa ipotesi fu poi postulato che la FAL dovesse essere aumentata nella sindrome di Down, dove esiste una trisomia 21. Numerose ricerche hanno infatti dimostrato che, in questa sindrome, la FAL è spesso elevata (Trubowitz et al, 1962; King et al, 1962a, 1962b; Lennox et al, 1962; O'Sullivan e Pryles, 1963; Alter et al, 1963; Cardinali et al, 1966; Medzewski e Loesch, 1966).

Indagini condotte nel nostro Istituto su un gruppo di 40 bambini affetti da sindrome di Down ci hanno permesso di dimostrare che l'aumento medio della FAL nei pazienti rispetto ai controlli era molto vicino al rapporto previsto di 3: 2 (Cardinali et al, 1966). Le nostre indagini hanno anche indicato che la FAL può essere aumentata, non solo nei casi di sindrome di Down in cui l'alterazione cromosomica è del tipo trisomia, ma anche nei casi in cui l'alterazione è del tipo traslocazione. Esiste, tuttavia, un certo numero di pazienti in cui i valori della FAL sono sovrapponibili a quelli dei soggetti normali. È noto, d'altro canto, che questa attività enzimatica può variare notevolmente sotto l'influenza di vari fattori fisiologici e patologici, quali l'età, la gravidanza, certi ormoni, le infezioni e altri stati morbosi. Resta quindi da chiarire quale sia l'importanza dei fattori genetici nel controllo della FAL.
La Curva di Glicolisi Spontanea nel Sangue Tentativo di stabilire una curva standard normale e di verificare, con il metodo gemellare, la natura ereditaria di alcuni profili patologici
Authors: Gedda L. , Romei L. , Brenci G. , Lun M. T. , Folca A. Di
Published: July 2016

Riferiamo qui solo alcuni dati preliminari di uno studio a lunga scadenza, intrapreso allo scopo di stabilire se la curva glicolitica spontanea del sangue incubato sterilmente a 37° presenti: (1) un profilo normale standard; (2) modificazioni del profilo geneticamente determinate; (3) alterazioni del profilo che possano servire come screening per svelare eventuali compromissioni degli enzimi glicolitici.

In questa comunicazione trattiamo unicamente della metodologia e di alcune osservazioni ad essa inerenti.

Siamo partiti dalla nozione che un sangue citratato prelevato e incubato sterilmente a 370 va incontro, entro un periodo massimo di 24 ore, ad una glicolisi spontanea pressoché completa; che nel sangue sono contenuti gran parte dei principali enzimi glicolitici e alcuni elementi, quali, ad esempio, le piastrine, dotate di intensa attività glicolitica.

Abbiamo iniziato l'indagine adoperando sangue di soggetti normali sia mononati che gemelli MZ e DZ, prelevato a digiuno e immesso in una provetta sterile contenente citrato di sodio al 3.8% nelle proporzioni di 1: 5 rispetto al sangue prelevato. La provetta è stata messa in termostato a 370 e, a intervalli regolari di tempo, sono stati prelevati campioni su cui si è eseguita la determinazione del glucosio. Inizialmente, i dosaggi venivano effettuati ogni 15' per un periodo di 6 ore; successivamente, abbiamo ritenuto opportuno prelevare ogni 30' per le prime 3 ore e ogni 60' nelle successive, protraendo però più a lungo l'osservazione.