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Population substructure and patterns of quantitative variation among the Gollas of southern Andhra Pradesh, India.

Population substructure and biological differentiation was studied among the Golla, a pastoral caste living in the southern areas of Andhra Pradesh (AP) in India, using 11 anthropometric measurements and 20 quantitative dermatoglyphic variables. The data were collected from a sample of 334 adult males drawn from 30 villages distributed in the Chittoor district of AP, who belonged to 8 endogamous subunits of the same caste. Multiple discriminant analysis of the anthropometrics suggests a highly significant degree of discrimination that is consistent with the microgeographic variations of the groups. In contrast, in different sets of dermatoglyphs discrimination is low and generally inconsistent with both the geographic and ethnohistorical affiliations of the groups. These findings are reflected in the F(ST) value for anthropometry, which is more than double the value of dermatoglyphs. The patterns of gene flow as inferred through the regression of phenotypic variance on the distance of groups from the centroid is not generally consistent with the known backgrounds in the case of either dermatoglyphs or anthropometry. It is concluded that at the level of caste substructure representing the lowest level of population hierarchy, the quantitative variables examined here may not portray a complete picture of the historical process of subdivision. The results of this study are not in congruence with those based on another study of 13 short tandem repeat loci on the same set of populations (Reddy et al. 2001), which may provide better insights into the population structure and history of subdivision that are consistent with the known ethnohistorical backgrounds of the populations.

Adult↗

[Correlations of various parameters of the human constitution].

Correlation links were established during the study of anthropometric and dermatoglyphic constitution parameters in teenagers. Dermatoglyphic parameter (width of cristae) that indicates the density of papillary figure correlates with anthropometric values that reflect the extent of development of bony and muscular systems and form mesomorphic axis of somatotype. Delta index reflecting complication of papillary figure negatively correlates with extent of development of adipose tissue, that forms endomorphic somatotype axis. According to the results of the study endo-mesomorphic gradient of dermatoglyphics parameters was established. Maximal informative value of the index of cristae width was demonstrated in the course of studying the correlative links of dermatoglyphic and anthropometric signs.

Adolescent↗

Hand locomotor functions, body structure, and epidermal ridge patterns: preliminary study.

The purpose of this study was to determine whether any relationships exist between hand locomotor functions and dermatoglyphic characteristics and body structure. The pilot sample consisted of 71 adult normal individuals (30 males and 41 females). The locomotor function tests included a power grip and two precision grips; dermatoglyphic features were represented by finger and palmar pattern intensities and ridge counts, and body structure by 35 head, face, trunk, and limb anthropometric measurements. Univariate and multivariate correlation analyses reveal that on average half of the variance in the locomotor hand-function tests can be accounted for by a set of body and/or dermatoglyphic variables in males; this contribution is appreciably lower in females. Body longitudinal measurements and some facial measures, such as jaw length, were found to be the main correlates of either a power grip or a simple thumb-index squeeze, especially in males; head and face measurements and the size and intensity of patterns on fingers 1 and 2 were the main correlates of more complex precision tests involving complicated manipulation of objects using the thumb and index finger. These preliminary results identify some previously unknown sources of variation in dermatoglyphic patterns and contribute to a better understanding of the evolutionary aspects of the relationships between specific functional and morphologic traits in humans.

Adolescent↗

The early ontogeny of the afferent nerves and papillary ridges in human digital glabrous skin.

The present study examines the early ontogeny of afferent nerves in human embryonic glabrous digital skin and documents the onset of cutaneous innervation and papillary (sweat duct) ridge formation by light and electron microscopy. The skin examined in this study was taken from 3 developmental stages of decreasing embryonic age: embryos older than 10 weeks estimated gestational age (EGA) representing the period of primary ridge formation, embryos of 8-9 weeks EGA representing the period immediately prior to ridge formation; and embryos 6-8 weeks EGA representing the period weeks before the onset of ridge formation. The earliest papillary ridges are present in 10 week EGA embryos, with small ridges present in two sites: the center of the proximal third and also at the tip of the distal phalangeal or apical pad. These papillary ridges typically contained Merkel cells. Papillary ridges formed progressively in a radial manner from these central foci. The proximal focus corresponds to the geometric center of the mature dermatoglyphic pattern of loops, arches, or whorls. This radial wave of ridge differentiation is discontinuous with the abrupt cessation of ridge formation responsible for the discontinuities in the mature papillary ridges and the corresponding dermatoglyphic print. Skin over the proximal and middle phalanges developed papillary ridges beginning in the 12th week. No papillary ridges could be identified in embryos of 8-9 weeks EGA, but a large number of growth cones are present in the superficial dermis subjacent to differentiating Merkel cells. The basal lamina of the epidermis was discontinuous wherever growth cones abutted Merkel cells. Merkel cells not directly associated with axons were also present in the epidermis of embryos of 8-9 weeks EGA. The embryos of 6-8 weeks EGA lack any sign of Merkel cells and/or melanocytes, but developing neurovascular bundles with axonal growth cones near the epidermis could be identified by light and electron microscopy. Presumptive Schwann and perineural cells are also seen in the dermis. We conclude that the developing afferent nerve fibers provide a grid which influences the temporal and/or spatial factors involved in the sequential onset and cessation of formation of papillary ridges. Thus the dermatoglyph can reflect the ontogeny of the afferent nervous system that occurred prior to papillary ridge development. These observations lend support to the concept that successive waves of afferent neural development have an important role in the spatial and temporal sequence of papillary ridge formation and thus the formation of both the dermatotopic map of the digits and the dermatoglyph.

Embryonic and Fetal Development↗

Palmar and plantar pads and flexion creases of genetic polydactyly mice (Pdn).

Attempts to gain a better understanding of the relationship between the epidermal ridge patterns (dermatoglyphics) and flexion creases on the volar aspects of human hands and feet and specific medical disorders led to a search for a suitable animal model, allowing studies of the fetal development of the pertinent structures. A common experimental animal, the rat (Rattus norvegicus), was found to be an excellent candidate, owing to the strong resemblance of the volar pads and flexion creases on its palmar and plantar surfaces to those of human subjects. A hereditary preaxial polydactyly mouse (Pdn) provides an opportunity to study the effects of this malformation on the surrounding morphological structures and, specifically, on the volar pads, i.e., the sites over which the dermatoglyphic patterns develop. The hands and feet of the wild-type (+/+) mice show no anomalies, and their major pad and flexion crease configurations correspond to those of normal rats. The heterozygous (Pdn/+) mice, in spite of having a thumb/big toe with a duplicated distal phalanx on their hands/feet, did not display any alterations in palmar/plantar pads. The homozygous (Pdn/Pdn) mice have a protrusion in the thenar area and one to three supernumerary digits on the preaxial portion of both the hands and feet. The effect of these anomalies was found to be limited to the pad and flexion crease configurations in the preaxial areas; the postaxial sites were not affected. The original number of pads on the thenar/first interdigital areas of Pdn/Pdn mice was apparently identical to that of the +/+ and Pdn/+mice. The preaxial protrusion, however, affected the number, size, and location of the pads observed in the newborn mice, resulting in varying pad configurations, such as fused and scattered pads or a pad cluster formed by gathering the neighboring pads. These pad modifications were induced by the preaxial plantar/palmar protrusion only and were not affected by the presence of supernumerary preaxial digits. In view of the similarities in the morphology and fetal development of human and mouse distal limbs, the present study is relevant to human subjects, particularly to the understanding of the significance of dermatoglyphic variations in individuals with specific medical disorders. Future studies of naturally occurring or experimentally induced limb malformations in mice or rats should provide valuable insights into the development of human hands and feet and into factors contributing to their congenital anomalies.

Animals↗

Biological affinities between the migrant groups of fishermen of Puri Coast, Orissa, India.

Biological affinities between the three endogamous groups of marine fishermen of Puri are examined with the help of nine anthropometric measurements and 22 dermatoglyphic traits of fingers and palms. The results are interpreted in the light of their ethnic, geographical, and migrational backgrounds. Multiple discriminant analysis and Mahalanobis's generalized distances suggest higher discrimination of populations with reference to anthropometric traits as compared to that in dermatoglyphic variables. While the nature of interpopulation distances conforms to the geographic pattern in anthropometrics, no clear picture emerges in the dermatoglyphic distances supporting either ethnic or geographic evidence.

Adult↗

Williams syndrome as a model of genetically determined right-hemisphere dominance.

Studies were carried out on the dermatoglyphics (skin ridge marks) on the hands of children with Williams syndrome; this is an inherited disease with cardiovascular pathology and a characteristic facial phenotype ("elf" facies), along with specific mental and cognitive disturbances. The results suggest a characteristic dermatoglyphic type with the presence of complex whorls on the fingers and a clear predominance of marks of greater complexity on the left hand; this is a very rare trait in normal people and in those with other inherited nervous system disorders. The features of the dermatoglyphic pattern serve as a characteristic marker of a genetically determined state of the human central nervous system, and suggests directions for neurophysiological studies of children with Williams syndrome as a unique model for analysis of higher nervous function in humans.

Brain↗

Nonreplication of the association between ab-ridge count and cerebral structural measures in schizophrenia.

The origins of cerebral abnormalities in psychotic patients remain unknown. Dermatoglyphics are suitable markers of prenatal injury due to their fetal ontogenesis and their susceptibility to some of the factors that also affect cerebral development. In a previous study, positive associations between brain volumetric measures and a dermatoglyphic marker, the ab-ridge count, were reported. The present study is an attempt to replicate that finding in an independent sample. Magnetic resonance imaging (MRI) scans and dermatoglyphic measures were available for 29 schizophrenia patients (Research Diagnostic Criteria [RDC] criteria) and 26 unrelated healthy controls. The images were processed using an automated procedure, yielding volumes of total grey matter, white matter, cerebrospinal fluid (CSF), and total brain volume. The ab-ridge count was not positively associated with brain volumes in either patients or controls. The present findings do not support the hypothesis that the changes in brain volume seen in patients with schizophrenia are of prenatal origin.

Adolescent↗

[Diagnostic problems in mosaic-Downs-syndrome (author's transl)].

In 14 cytogenetically diagnosed patients with mosaic Down's syndrome a dermatoglyphic examination was performed. A highly significant correlation between the percentage of trisomic cells and the grade of mongoloid stigmata in the dermatoglyphic pattern was observed. In 11 of the 14 patients a second chromosome analysis could be done after different periods. In several cases a very distinct shifting between the normal and the trisomic cell line occurred. In three patients the normal cell line disappeared and in one other patient the trisomic cell line was lost. The diagnostic problems are pointed out which occur by the total loss of trisomic cell lines. The value of dermatoglyphic examinations in such cases is discussed.

Adult↗

[The role of phenotypic factors in predicting the effectiveness of pharmacological prevention of tuberculosis in children].

The role of genetic markers such as dermatoglyphics, sex and INH inactivation in predicting the efficiency of tuberculosis chemoprophylaxis has been studied in 76 children (41 boys and 35 girls) with a tuberculin reaction reversal. The dermatoglyphic signs and the type of INH inactivation were found to be related to the efficiency of chemoprophylaxis. This makes it possible to use the child's phenotype for prognosis and better individual approach to tuberculosis chemoprophylaxis. An association has been found between the INH inactivation type and dermatoglyphics.

Child↗

Palmar, plantar, and digital flexion creases: morphologic and clinical considerations.

The above overview illustrates the areas of interest in flexion creases in human biology studies in general and in studies of medical disorders in particular. Clearly, flexion creases have a significance of their own rather than only as appendices of the dermatoglyphic analysis and should, therefore, be approached appropriately. In some instances, they may be of more interest than the dermatoglyphics. Our understanding of the creases and their value is, however, as yet incomplete and the gaps in our insight limit the possible interpretations and practical applications of the knowledge gained from studies of various aspects of the flexion creases. Creases provide important clues of the early fetal development and thus may be of practical value in clinical medicine. So far, most of these studies have been carried out in relation to specific disorders, often without a clear reasoning why flexion creases should be altered in the given disorder. The examples of aberrant flexion creases discussed above illustrate the general lack of specificity of crease anomalies in association with a particular syndrome or disorder that does not include malformations or malfunctions of the limbs. Instead, the anomalous flexion creases reflect the altered shape and function of hand and foot, which, in turn, are determined during early fetal development and affected by factors interfering with normal embryogenesis. A more promising approach to studying flexion creases in medical disorders, therefore, is to explore the developmental correlations between the creases and the structure and function of hands and feet. This does not mean that information gained from the case reports of individuals with various congenital defects is of no value. On the contrary, it should be collected systematically to determine the variety of crease aberrations and their frequencies in a given disorder, which would help elucidate the presence and timing of the developmental factors involved in the origin of the defect. The usefulness and limitations of the flexion creases are to a large degree parallel to those of dermatoglyphics. Altered flexion creases are indicative of intrauterine disturbances occurring early in pregnancy. As such, they may be of a predictive value in otherwise apparently normal infants in whom cryptic damage may be manifested later. They may serve to alert the physician to perform careful or more detailed examinations or to reexamine already obtained (and possibly inaccurate) test results. A better understanding of the crease embryology, both normal and abnormal, is a prerequisite for progress in studies of flexion creases.(ABSTRACT TRUNCATED AT 400 WORDS)

Congenital Abnormalities↗

[Dermotoglyphics in the Bribri and Cabear Amerindians from Costa Rica].

Digital and palmar dermatoglyphic patterns were analysed for 286 male and female Bribri and Cabecar Amerindians of Chibcha ascendancy from four populations located in southeastern Costa Rica. There was no significant difference among Pacific and Atlantic Cabecar samples, with the exception of the bc and cd ridge count. However, the Bribri groups present differences for 22 features, though the largest differences are between Bribri and Cabecar Pacific populations. A comparison with other Latin-American indians evidence that dermatoglyphic patterns of Bribri and Cabecar tribes are within the expected range, but it is important to notice the high frequency of digital arcs and the low frequency of worls. The results are similar to those observed using other genetic markers in the same populations, and demonstrate the discriminable capacity of the dermatoglyphics to tribal level for taxonomic and evolutionary studies.

Costa Rica↗

Somatotype of children with gonadal dysgenesis and structural anomalies of genitalia.

The somatotype of 92 children with sexual structural anomalies of whom 28 with female Turner's syndrome, 22 with Klinefelter's syndrome, 20 with adreno-genital syndrome, 14 with hypospadias, 2 with Reinfenstein's syndrome and 6 with feminizing testis was established on the basis of biometric and genetically determined morphologic characteristics (dermatoglyphics, pigment complex). A morphogram utilizing 12 anthropometric and 5 dermatoglyphic parameters was constructed; it can be used in phenotypical differentiation of the anatomo-clinical variants of structural anomalies of the genitalia and gonads. The 12 anthropometric parameters were: weight, stature, height of the head + neck segment, the sternum-symphysis distance, length of arms and legs, the biacromial and bitrochanterian diameters, the circumference of the thorax, abdomen, hips and head. The dermatoglyphic parameters were: the digital delta index, TFRC, a-b ridge count, the ATD angle and the A line obliquity. For longitudinal assessment of the phenotype of children with structural anomalies of genitalia and gonads, the authors propose utilization of the percentile diagrams regarding weight, stature, pubes to floor distance, and the biacromial and bitrochanterian diameters.

Adolescent↗

[Markers of genetic susceptibility to malignant neoplasms].

Fifty-eight lung cancer and 71 gastric cancer patients were matched with corresponding healthy controls versus such risk factors as age, sex, nationality, tobacco smoking, alcohol drinking and occupation. HLA-antigens and dermatoglyphic patterns were used as genetic markers. Multivariate analysis employed mathematical procedures of pattern recognition. The results using HLA-antigen technique were not satisfactory. On the contrary, lung cancer studies based on 16 most informative dermatoglyphic parameters yielded reliable decision rules which proved 100% effective in control group and 83.3% effective in cancer patients. In gastric cancer studies, the best results (87.5% of correctly recognized patterns in both groups) were obtained, when 20 parameters were used. Correlations between pattern types and cancer of the lung and stomach have been identified. It is suggested that complete dermatoglyphic picture may be used as a marker of genetic predisposition to oncological disease.

Adult↗

A clinical, genetic and echocardiographic study of hypertrophic cardiomyopathy in a large family.

OBJECTIVES: To confirm recent reports on the incidence of human lymphocyte antigens (HLA) in familial hypertrophic cardiomyopathy and to better define the genetic patterns found in these patients. METHODS: A large family (31 members, 18M, 13F, age range 6-80 years) with a high incidence of hypertrophic cardiomyopathy was screened for HLA, dermatoglyphic patterns and blood subtyping. RESULTS: Our finding show variable expression of the disease and reduced penetrance. No linkage between the disease-causing gene and HLA loci could be demonstrated in the family. There was no specific haplotype which present in all affected individuals and missing in all controls. Haplotype A2 B18 was the most commonly encountered in affected individuals but was absent in IV 3 and present in a few controls. No linkage was found between the disease-responsible gene and the blood groups. Finally, no typical pattern emerged from the dermatoglyphic studies. CONCLUSION: The genetic assessment of this family, in agreement with other European studies, showed no clear correlation between hypertrophic cardiomyopathy and blood groups ABO, Rh, Lewis, Duffy and was unable to show atypical or unusual dermatoglyphic patterns.

Adolescent↗

Attention-deficit hyperactivity disorder (AD/HD) and fluctuating asymmetry (FA) in a college sample: an exploratory study.

Departures from normal development can be partly assessed by measuring fluctuating asymmetry (FA), that is, differences from perfect symmetry in traits that display bilateral symmetry. Attention-deficit hyperactivity disorder (AD/HD), one of the most common psychiatric conditions, is diagnosed if there are developmentally inappropriate levels of inattention, hyperactivity, and impulsivity. The objective here is to measure whether AD/HD behaviors positively correlate with FA in head, hands, and fingerprints of a sample of college students (n = 176, 57 male, 119 female) not selected for AD/HD. FA was measured as the absolute value of the difference between right and left sides divided by group mean trait size. Average FAs (mean, SE) were lowest for finger lengths (e.g., male, 3rd, 0.011 +/- 0.001; female, 3rd, 0.012 +/- 0.001) and highest for digit ridge counts (e.g., male, 5th, 0.075 +/- 0.007; female, 2nd, 0.069 +/- 0.005). Average FAs were similar between the sexes and only one facial measure and the facial index (summed FAs) differed significantly between the sexes (F > M). The scores for measures of the adult AD/HD behavioral assessment instrument, the Wender Utah Rating Scale (WURS) were high overall in this sample and males exhibited higher rates of symptoms than females. A Rasch measurement model analysis of individual responses to the WURS produced a true interval score for each person that is a measure of individual "AD/HDness." FA indices were then regressed on Rasch scores. A univariate analysis of all the variables demonstrated a significant interaction of sex. Hand, Dermatoglyphic, Face, and Total Indices were then regressed by sex on the Rasch values of "AD/HDness." Only in males was there a trend for the Dermatoglyphic Index (F(1,55) = 3.627, P = 0.062) and Total Index (F(1,55) = 3.811, P = 0.056) to increase as AD/HDness increases.

Adolescent↗

The diagnostic management of newborns with congenital contractures: a nosologic study of 75 cases.

A prospective clinical study is presented of 75 patients with multiple congenital contractures. With the data from medical history, child neurologic examinations, laboratory tests including chromosome and dermatoglyphic analysis, and neuropathology in 23 cases with perinatal death, a nosological or syndromal diagnosis was made in 61 cases. These cases were classified by localization of causal pathology in the categories "cerebral dysgenesis", spinal cord defects, neuromuscular disorders and miscellaneous disorders without muscle weakness. Following this concept, the various modes of inheritance of specific disorders presenting with congenital contractures, as well as possibilities for prenatal diagnosis by ultrasonography are discussed. A guideline for the child neurologic evaluation of infants with congenital contractures is proposed. It is concluded that: 1) specification of the causal lesion and proper classification of disorders with congenital contractures is crucial for genetic counseling, (prenatal) diagnosis and management; 2) the analysis of dermatoglyphics in differential diagnosis of congenital contractures should be restudied; and 3) more study and experience is required in the observation of abnormal or decreased fetal movements by ultrasonography.

Brain↗

Hands and feet in the Apert syndrome.

We studied 44 pairs of hands and 37 pairs of feet in Apert syndrome, utilizing clinical, dermatoglyphic, and radiographic methods. We also studied histologic sections of the hand from a 31-week stillborn fetus. Topic headings discussed include: clinical classification of syndactyly; correlations between types of hands and feet in the same patient; dermatoglyphics; anatomy of the hand; radiologic assessment; comparison with other studies; histologic assessment of the hand; acrocephalosyndactyly vs. acrocephalopolysyndactyly: a pseudodistinction; and some generalizations.

Acrocephalosyndactylia↗