bluuebunny/crossref_metadata_2025_split huggingface dataset:
Methodological Notes on the Determination of Plantar Main-Line Index and Transversality
Authors: Datta P. K. 
Published: July 2016

SUMMARYMethods have been presented for the determination of main-line index and transversality of the distal plantar ridges. For studying the collective main-line formula, a scheme of ‘modal types’ for the four main lines has been introduced. The computation of the summational main-line index has been made possible by devising a scheme of numerical values for the various terminations of main lines D and A. Cases where the main line D or A is abortive or non-existent should be eliminated from the assessment of main-line index. The degree of transversality should be determined from the percentage proportion of the mean main-line index with the maximum possible index.
The Contribution of the « Clinical Twin Method » to the Study of Sex Anomalies in Childhood (Phimosis, hypospadias, cryptorchism, adiposogenital dystrophy Laurence-Moon-Bardet-Biedl syndrome)
Authors: Gedda L. , Raimondo F. Di 
Published: July 2016

SUMMARYFirst of all the Authors stress the importance of twin studies as a method of analysis of the pathological phenomena from a hereditary standpoint: to this aim, the Interzygotic Twin Method may be used in statistical studies, and the Clinical Twin Method in clinical ones. On this basis, the Authors report their observations, on a remarkable number of male twin pairs, affected by anomalies or syndromes including one or more genital dysfunctions, either in infancy or adolescence. Numerous cases of phimosis are thus presented, where the higher concordance in pairs of MZ twins stands for a hereditary conditioning; cases of hypospadias, showing a perfect symmetry of the malformation in the cotwins; cryptorchism, with various possibilities of presentation of the anomaly in the intrageminal comparison. The Authors also describe in detail, making an analytical intra-pair comparison of the symptoms and laboratory data, some cases of complex adiposogenital dystrophy, as well as one case of Laurence-Moon-Bardet-Biedl syndrome with different clinical manifestation in a DZ pair. The longitudinal study carried out over many years on some of the pairs affected by the above mentioned clinical pictures, and the clinico-statistical analysis of the cases under consideration allow the Authors to draw a number of positive conclusions concerning the variable, genotypic conditioning of the sex anomalies considered: in this field, as well as in many others of nosography, the Clinical Twin Method appears to be highly useful in practice, and unique by reason of its peculiarity.
Gravidanza plurigemina monocoriale con complesse Mostruosità fetali: Valutazioni d'ordine genetico e patogenetico
Authors: Dellepiane M. , Macchioni B. 
Published: July 2016

SUMMARYA case of monochorial and monoamniotic pregnancy is described. Of the four products of conception, two were apparently normal (stillborn) and two were monsters.On the basis of current classifications, the latter two can be defined one as acardiacus acephalus and the other as acardiacus amorphus. After presenting the data resulting from all the investigations carried-out (radiography, sex chromatin, histological examinations, injection of the placental and foeto-placental circulation) the etiopathogenetical factors to be examined in determining congenital serious deformities are discussed in relation to the case under examination and on the basis of the most recent findings.Two etiopathogenetical hypotheses are then suggested, resting on the supposition of a genie lesion which directly conditions either the subdivision into several embryos following ontogenesis or the « monstruosity » of the placental circulation.On the basis of the results obtained it can be held that further discoveries on the subject will derive from genetics and experimental embryology.
On the Statistical Significance of one Pair of Monozygotic Twins in Clinical Genetics
Authors: Gedda L. 
Published: July 2016

SUMMARYA case of one twin pair concordant or discordant as to a given disease is always very important for Clinical Genetics, especially when it is monozygotic. In Clinical Genetics, isolated pairs occur to the physician, and the diagnosis must therefore be based on intra-pair comparison. The statistical treatment of the case must consider the fact that a concordant monozygotic twin pair represents a statistical universe rather than a statistical unit. This entails taking into account many traits concerning the time of onset, the symptoms, development, result of treatment, etc. Suggestions are made for the statistical treatment of such cases.
Aplasia subtotale degli arti superiori in coppia gemellare monozigotica discordante
Authors: Gedda L. , Torrioli-Riggio G. 
Published: July 2016

SUMMARYThe Authors describe a case of aplasia of the upper limbs in a discordant MZ twin pair. According to the individual and genealogical findings, and especially to the fact that these female MZ twins are discordant, as well as to the caryologic finding, the Authors conclude that the malformation is not genetically induced but possibly originated by blastophthoric factors during the first and second month of fetal life.
Incisor growth in twins during the seventh and eighth months of foetal life
Authors: Stack Maurice V. 
Published: July 2016

SUMMARYWeights of mineralized dental tissue have been determined in incisors dissected from ten pairs of twins failing to survive beyond 7-8 months' gestation. Logarithms of weights were compared as ratios (lower/upper) with data from foetuses of similar development. Intra-twin differences were thus shown to be significantly less than inter-twin differences when comparing central incisors. Lateral incisors were too variable to allow this demonstration. The linear regression equation combining logarithms of lower and upper central incisor weights was suitable for estimating foetal age to within one week of the recorded age.
Osservazione sulla trasmissione ereditaria della sindrome di Ellis-Van Creveld
Authors: Zunin Carlo 
Published: July 2016

SUMMARYTwo personal observations are presented, the former including a pedigree showing both on the maternal and paternal side isolated symptoms of the Ellis-van Creveld syndrome, and the latter consisting in an affected child ensued from a consanguineous marriage, his parents being first cousins. The cases of the literature in which the hereditary component is evident (28 in 49) are also examined. The most significant data from a genetic standpoint are discussed, i. e. the presence of isolated symptoms in the families of the patients, the consanguinity in the parents, the presence of the syndrome in different members of the same sibship. As a conclusion the recessive inheritance, through an autosomal polyphenic gene, is confirmed.
Considerazioni sulle risultanze statistiche delle malformazioni congenite letali e no in Italia dal 1956 al 1958
Authors: Maggiore L. 
Published: July 2016

SUMMARYThe statistical data on the malformation occurred in Italy from 1956 to 1958 have been examined. It has been seen that their number is almost constant (i. e. some 1,500 per year). The ratio of alive malformed to dead malformed is of 3:1, but the number of deaths by congenital malformations increases considerably during the first year of life, mostly due to inner organ malformations, non detectable at birth.50% of the cases of harelip die during the first year of life. The most serious malformations are those concerning the central nervous system, while the most common ones, are those affecting the locomotive apparatus.The number of malformations has not been influenced by the very insufficient diet during the four years of war, neither by the 1957 « asiatic influenza ». The malformation index, furthermore, appears almost constant in the time and in the various regions, showing the highest figure in Lucania and Friuli (3.05) and the lowest ones in Campania (0,89), Sicily and Liguria (1.21).
Considerazioni e Ricerche genetistiche sul Problema degli omoinnesti
Authors: Gedda Luigi , Gentileschi Ezio , Gentileschi Giorgio 
Published: July 2016

SUMMARYThe Authors describe the results obtained by their studies concerning the reaction of histocompatibility to homografts, the origin of parvicellular infiltration and regional lymphonodular modifications due to a skin graft.The acceptance or reject of a homograft in rabbit twins makes it possible to establish the presence of MZ twins. As for the parvicellular infiltration, noticed in the case of kidney homografts, according to the researches of the Authors, who have depressed the graft by means of irradiation, it may be assumed that it is originated either from the graft, or from the host.The study of regional lymph-nodes in the skin homograft in rabbit shows an evident proliferation of the lymphoreticular tissue starting in the very early days, when the graft is viable; in a subsequent stage corresponding to the graft's elimination there is a clear prevalence of plasmocytary elements in the lymphatic cords.The homograft in mice of the inbred line C57BL6shows the graft's acceptance by tissural reactions equivalent to the ones of the autograft.The homograft from random mouse on inbred mice shows the absence of a histiocytary lymphonodular reaction of the epithelioid type, which may be observed sometimes in the reaction to the allogenic homograft in the rabbit; it would be then a subsequent reaction not related to histocompatibility phenomena.
Fistola doppia del Labbro inferiore in otto Membri della stessa Famiglia
Authors: Tarsitani D. 
Published: July 2016

SUMMARYA relatively rare malformation (double fistula of the lower lip, associated in most cases with cleft lip and palate) has been found to be exceptionally present in eight members (mother and seven children) of the same family.A survey has been made of present knowledge on the genesis of this malformation, and a genetical interpretation of the observation has been tentatively suggested.Different data collected on the problem point, in the author's opinion, to an hypothesis which should admit the occurrence of a chromosomal mutation, associated with fusion of the couple of maternal chromosomes, as the most acceptable one.Exogenous factors, such as, in particular, deficiency factors, could have played a predisposing or facilitating role.
Distribution of papillary Patterns on the middle and proximal Phalanges of Brahmins of Rajasthan
Authors: Kumbnani Harkishin 
Published: July 2016

SUMMARYAfter a careful study and analysis of the various patterns observed on the middle and proximal phalanges on 600 fingers the Author comes to the following tentative conclusions.1. As it is evident from table I, fingers II, III, IV show a great variability of patterns and among them III and IV have as many patterns as 20 each, while the least degree of variability is observed on thumb, the first finger, which shows only 5 types of patterns. The fifth finger shows 10 different types of patterns. The above number is obtained while counting the pattern present on right and left hands.2. Among the main types, the pattern Hook predominate exhibiting the percentile frequency of 37.128. Patterns Straight are second in order of preponderance showing the percentile frequency of 24.999. Arches are definitely higher (12.777%) as compared to Enclosures which are 10.554%.3. The patterns Hook and Straights are more common on fingers I and V, while Arches, Arch Angle and Enclosures are monopoly of digits, II, III and IV.4. In general it is observed that digits I, II, III bear the patterns which open more frequently on the radial side whereas digits IV and V show the patterns opening on the ulnar side — a natural mechanism which helps a lot in grasping.5. Comparing the different right-left symmetrical combinations on the finger phalanges of homologous right-left fingers it is observed that digits II, III, and V exhibit a lower number of symmetrical combinations as compared to digit IV, indicating thereby more symmetry in digits I, II, V as compared to digit IV.6. Comparing the percentile frequencies of various main patterns it can be surmised with certainty that in most of the pattern frequencies Brahmins resemble more to Chinese than to Germans. However, further investigations on these research lines and on many other groups, will not only add to our knowledge but will also help in the race stratification.
Contributo alla patologia gemellare (Rilievi istopatologici su io coppie di gemelli)
Authors: Fiumara Dott. Antonino 
Published: July 2016

SUMMARYIn an anatomo-pathologic investigation on 21 twins (9 pairs and a set of triplets) who had died within 26 days from birth, the Authors have found a majority of lesions of the respiratory system (in 5 cases hyalin membrane, in 4 bronchpneumonia, in 10 desquamative alveolitis associated with atelectasia, emphysema, congestion, haemorragiae, ouedema and substances ab ingestis). Interval between cotwin death lies between 15-18 hours in 8 pairs, 12 days in one pair, 15-11 hours in the triplet set. The highest frequency of mortality was between the 11th and the 16th day: 55%, which differs from that for single born prematures and immatures. Qualitative and quantitative concordance of lesions was remarkable in seven pairs.In one pair of twins, who died within 30 hours of each other, only the type of prevailing exsudate differred (leucocytes in one, monocytes in the other), while the degree of the lesions was similar. In another pair of twins, whose death was due to exsudative respiratory lesions, one, dead on the 2nd day, exhibited the symptoms of hyalin membrane syndrome, and the other, dead on the 14th day, the symptoms of bronchpneumonia. The two members of the triplet sets who died first, were affected by an egual degree of desquamative alveolitis, while the third, who died 11 hours later, by a leukocyte bronchial catarrh. With regard to the collected data, the Authors proceed with some considerations.
Reproduction in a Mongoloid
Authors: Stiles Karl A. , Goodman Harold O. 
Published: July 2016

Reproduction in mongoloids is a rarity. Allen and Baroff (1955) cite only four reports prior to 1949 which described such instances and Øster (1953) considered the diagnoses uncertain in two of those reports. At least seven more recent instances have been recorded (Le Long, Borniche, Kreisler, and Baudy, 1949; Sawyer, 1949; Forsmann and Thysell, 1957; Rehn and Thomas, 1957; Schlaug, 1957; Mullins, Estrada, and Gready, 1960; and Hanhart, 1960). In four of those cases the offspring were non-mongoloid and in three, mongoloid.
The case described by Rehn and Thomas (op. cit.) is the subject of this report. Because those authors were aware of the present comprehensive study, their diagnoses of mongolism were based on only routine clinical examinations. The purpose in making this investigation was to determine whether or not both the mother and her female offspring were mongoloid. Toward that end the mother and child were examined carefully for the presence of the various stigmata of mongolism. The results of those examinations are presented below.
The mother in the present case was living at home when 19 years of age and would probably not have been committed to an institution had she not become pregnant. She was committed with the diagnosis of mongolism and pregnancy three months prior to delivery and remained a patient at the institution until released on home parole a few months following delivery. Her child was committed with a diagnosis of mongolism shortly after birth and has never been away from the institution. Paternity is unknown, though the mother's father has been suspected.
Saliva and Sweet Taste Perception for Phenylthiourea (P.T.C.)
Authors: Skude Gunnar 
Published: July 2016

SummaryTaste sensations for P. T. C. and the standards might occur when an aqueous solution of a solid is placed on a tongue, free from the saliva of the parotid, sublingual and submaxillary glands, the tongue thus being soaked only by the secretion of v. Ebner's glands and other small glands on the tongue.A descending paper chromatography method described in the paper failed to reveal any different influence of the saliva from different persons (non-tasters, tasters and a sweet taster) on phenylthiourea.
A roentgenologic and genetic study of a rare osseous distrophy
Authors: Ilha D. O. , Salzano F. M. 
Published: July 2016

SummaryDescription is made of a family of which in three generations five members presented a rare osseous distrophy. Medical information was obtained for about 46 individuals of the 107 who constitute the family. The affection shows resemblances with both the Camurati-Engelmann disease and hyperostosis corticalis generalisata familiaris. It is inherited through a dominant gene.
Saggio di indagine sulla gemelliparità in un archivio parrocchiale
Authors: Gandini Luigi 
Published: July 2016

SUMMARYThe author made use ot parochial archives for a genetic research. All parochial archives keep the registers of the newborn, the dead, the marriages, the confirmands, the amounting of the population in a parish. According to the canon 1813 (§ 1), these registers are public and ecclesiastical documents, and they form a mine of biological and genetic information too.In this work the author, by making use of parochial archives in Busnago (Milan), — starting in 1634 — has controlled the proceeding of multiple pregnancies. These appear to have a percentage of 1,53% — superior to that of the Italian population (1, 13%) and to that of the human population officially numbered (1, 25% according to Caullery).During the three centuries considered by the author, the proceeding of these multiple pregnancies shows a certain periodicity, but, from 1764 to 1804, there is an abrupt fall occuring at the same time of an endemic pellagrous disease. A further inquiry on 23 twin-pairs selected during the last forty years, and a research during the three centuries considered did not show any relationship between consanguinity and multiple pregnancies. On the contrary, this research showed a periodical proceeding of the frequency of multiple pregnancies on the total of the newborn with cusps, every quarter of a century, which seems to support the hypothesis of the existence of a dominant hereditary factor. At last, the greatest number of percentage of multiple pregnancies on the mother's side, as compared with the father's one, makes us think of a hereditary factor on the mother's side.
Anthropologische Beobachtungen an den Kindern einer Inzest-Verbindung Die morphologischen Merkmale des Gesichtes
Authors: Weninger Margarete 
Published: July 2016

SUMMARYIn Volume VII, 1958 of the A. Ge. Me. Ge a research on the dermatoglyphics of an incestuous family (5 children, their mother, grandmother and grandfather, the latter also being the father of the children) was published. The present paper deals with the morphological features of the face, i.e. the soft parts of the mouth and chin region, of the eye region and of the external nose of the same family.Theoretically speaking, in a case like this— owning to the increased amount of common alleles—an unusually close phenotypical resemblance among the children might be expected, as, in fact, demonstrated by the morphological analysis. The characters subject to changes by age represent an almostt step by step development and this is confirmed by the two observations carried out in 1934 and 1939.Considering the variations caused by age, the children don't exceed, generally, the difference of monozytic twins.Regarding the phenotypical similarity to the adults the theoretical expectation has been more than confirmed. There are close affinities with the grandfather and the mother of the children resembling him. Only a few features are in common with the grandmother and these, for the most part, are features typical of earlier stages of development. As some traits of this kind are characteristic for the grandmother these resemblances are considered to be of a temporary nature only.The study of the dermatoglyphics revealed a surprising conformity between the children, their mother and their grandfather, while the grandmother differed. In addition two of the children showed a few widely divergent rare traits. Compared with the dermatoglyphics the isolated minor deviations in the morphological characters of the face seem of no importance. On the whole one is impressed how rapidly ancestral loss (« Ahnenverlust ») can lead to an extensive phenotypical homogeneity in a family.
Consistency of Sweet Taste Perception for Phenylthiourea (P.T.C.)
Authors: Skude Gutinar 
Published: July 2016

SummaryEight sweet tasters for P. T. G. found in a preceding investigation were retested with P. T. G. solutions by using a discriminating test method. Variations in the course of a single day and during longer periods were studied. It was observed that the consistency of sweet tasting for this compound varied intraindividually as well as interindividually. One of the females showed a high consistency of taste sensations for different concentrations. Three persons never reported a sweet taste sensation of a supraliminal concentration, although one year earlier they had described different P. T. C. solutions as sweet or sweet and bitter at the same time. The remaining four persons showed a varying consistency of the number of solutions stated as sweet tasting and the concentrations of these sweet tasting solutions. The reasons for the variations of the consistency are unknown. Such inconsistencies influence the result of investigations into inheritance of the trait.
Ricerche sulla Familiarità delle Neoplasie delle Vie Biliari e del Pancreas
Authors: Maltarello A. , Beolchini P. E. , Gualandri V. 
Published: July 2016

SUMMARYThe AA. have undertaken a study on the familial occurrence of cancer cases in the families of 142 patients with cancer of the biliary ducts, and of 208 patients with cancer of the pancreas, in comparison with the families of equal numbers of healthy persons (controls). On the basis of the collected data, neither for the cases of cancer of the pancreas nor for the cases of cancer of the biliary ducts, a higher incidence of cancer (both same site or all sites) than in the families of the controls has been observed. On the contrary, a significantly higher incidence of cancer of the digestive system has been demonstrated in the families of the two groups of cancer patients taken together.
Anomalie dell'Apparato Urinario nella Sindrome di Morgagni-Turner
Authors: Andreani D. , Menzinger G. , Semprebene L. , Carratù E. , Fallucca F. , Stirati G. 
Published: July 2016

SUMMARY20 subjects with Morgagni-Turner's syndrome have been extensively investigated for structural or functional abnormalities of the urinary tract. This investigation was planned owing to the observation by Morgagni, who described the first case of gonadal agenesis associated with a congenital anomaly of the kidneys, and in consideration of the embryological connection between the gonadal and the excretory « Anlagen ». Moreover, to this respect, previous investigations have been very indicative. The patients were subjected to conventional X-ray examination of the urinary tract and to radionephrography with 131 I-hyppuran and, when necessary, to renal scintigraphy with 197 Hg-neohydrin. In a group of patients inulin and PAH clearances were also determined. More than half of the patients had important abnormalities: horseshoe kidneys (5 cases), pyeloureteral duplicity (3 cases), unilateral renal aplasia (2 cases), rotation of the kidneys (1 case); seven further cases showed pyelic dilatation and hypotonia associated with frankly abnormal 131 I-hyppuran nephrograms. 3 out of 4 cases, in which clearance studies were performed, showed marked reduction of glomerular filtration rate and renal plasma flow, even though conventional urography showed no pathological change. It is evident that the urinary tract is very often abnormal in this syndrome; the abnormalities are usually structural, rarely purely functional. Thus, it seems even more justified to indicate the syndrome with both the names of Morgagni and Turner.