bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationships of physical fitness, fatness, and lifestyle indicators with blood iron in children and adults
Authors: Song Thomas M. K. , Thériault Germain , Prud'Homme Denis , Malina Robert M. , Bouchard Claude 
Published: June 2005

AbstractThe associations between physical fitness, fatness, activity level, dietary intake and smoking, with indicators of blood iron status are considered in 1,216 children and adults of the Quebec Family Study, 612 males and 604 females, classified into six age groups: 10–14, 15–19, 35–39, 40–44, 45–49, and 50–54 years. Physical fitness was determined as power output at a heart rate of 150 beats per min on a cycle ergometer (PWC150) and as strength of the knee extensor muscles. Fatness was estimated with the body mass index (BMI) and the sum of six skinfolds. Activity level and dietary intake were assessed with three‐day records. Hemoglobin concentration (Hb), hematocrit (Hct), and serum ferritin of males were greater (P < 0.001) than those of females in all age groups except 10–14 years. Serum ferritin of boys and girls (10–19 years) was significantly lower than in adults. There were no clear relationships between Hb, Hct, and serum ferritin with activity level, physical fitness and body composition. However, smoking was positively correlated with Hb (P < 0.01) and Hct (P < 0.001) in all age groups, except adult females 35–39 years. Using a multiple correlation procedure, the independent variables of the study accounted for about 9% (adult males), 11% (boys), 11% (adult females), and 5% (girls) of the variance in serum ferritin. Thus, activity level, nutritional intake, physical fitness and body fat are only marginally related to blood iron status in this population. © 1995 Wiley‐Liss, Inc.
Anthropometric indicators of nutritional status and level of mortality
Authors: Gage Timothy B. , Zansky Shelly M. 
Published: June 2005

AbstractThe strength of the relationship between several anthropometric indicators of nutritional status, or more generally, standard of living, with overall mortality at the population level is compared. The anthropometic indicators examined include height, weight, weight‐for‐height, and weight‐for‐height2at various ages. The results demonstrate that height is most closely associated with the level of mortality. Weight‐for height2, in contrast, has the weakest association with mortality. Of the ages examined, age 6 consistently has the strongest relationship with the level of mortality, whereas birthweight and adult measures have the lowest associations with the overall level of mortality, although the results for birthweight may be an artifact of biased data. Curiously, there is little or no sex difference in the slope of the relationship between anthropometric measure and level of mortality after correcting for smaller size and longer life expectancies of females compared to males. Overall, the anthropometric indicators are very highly correlated with mortality, exceeding 0.85 in some cases. This suggests that anthropometric dimensions may be a useful source of corroborative information when attempting to estimate demographic rates for populations where the demographic data are suspect. © 1995 Wiley‐Liss, Inc.
Rate of skeletal maturation in relation to secondary sexual development during female adolescence
Authors: Onat Teoman , İşeri̇ Haluk 
Published: June 2005

AbstractThe relationship between rate of skeletal maturation (interval from capping of hand epiphyses to fusion of radius) and rate of secondary sexual development was studied in a longitudinal sample of 76 normal Turkish girls. The interval from capping to fusion correlated inversely and significantly with the stage of secondary sexual development (SSD) attained at capping. It is concluded that the rate of skeletal maturation and expected growth after the onset of capping are not constant and depend on the stage of secondary sexual characteristic development, the former being shorter with more advanced sexual maturation. © 1995 Wiley‐Liss, Inc.
Validation of methods for predicting adult stature in Turkish girls
Authors: Onat Teoman 
Published: June 2005

AbstractThe original or revised methods for prediction of adult stature of Tanner–Whitehouse (TW), Roche‐Wainer‐Thissen (RWT), and Bayley–Pinneau (BP) were validated in a mixed longitudinal study of Turkish girls, 9–14 years of age. Comparison of 727 estimations of 102 girls showed that the RWT'93 revision is an improvement over the original method by reducing the standard deviation, and absolute median and mean of residuals. The TW'83 (3v) method, by dropping the variable midparent stature, was reduced in accuracy before age 12. The addition of the previous annual increment in stature improved the predictions, while further addition of the increment in skeletal age did not. In relation to overall accuracy and reliability, BP (0.75) and TW'75 (0.73) had the highest R2 values, while RWT'75 had the lowest (0.55). Regarding individual consistency of multiple predictions, the RWT methods ranked best and TW'83 relatively poorest. Systematic errors found in Turkish girls were similar to those found in French, Swiss, and Finnish girls. © 1995 Wiley‐Liss, Inc.
The FG syndrome: Further characterization, report of a third family, and of a sporadic case
Authors: Riccardi Vincent M. , Hässler Erich , Lubinsky Mark S. , Opitz J. M. 
Published: June 2005

AbstractWe report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X‐linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality and facial appearance, imperforate anus and/or other gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.
Minor chromosome variants in child psychiatric patients
Authors: Funderburk Steve J. , Guthrie Donald , Lind Roger C. , Muller Helga M. , Sparkes Robert S. , Westlake Joan R. , Opitz John M. 
Published: June 2005

AbstractThe frequency of minor chromosome variants, as detected by conventional chromosome analysis, was examined among 1,289 child psychiatric patients, of whom one‐fourth had only behavioral problems and three‐fourths had congenital abnormalities and more severe mental disorders. There was no more than random association between prominent satellites, prominent secondary constrictions or a long Y chromosome, and congenital abnormalities or more severe mental disorders. The frequencies of these chromosome variants were affected by race as has been shown in previous studies. These findings do not support the evidence for a developmental effect of minor variants in man.
Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes
Authors: Dewald Gordon , Spurbeck Jack L. , Gordon Hymie , Hoehn Holger 
Published: June 2005

AbstractChromosomes from four patients with variants of the Turner syndrome were investigated by G‐ and C‐ banding and DNA replication techniques. Their karyotypes were: 1) 46,X,idic(X)(q28), 2) 45,X/46,X,idic(X)(q24), 3)45,X/ 46,X,idic(X)(p11), and 4) 46,X,i(Xq). In Patients 1, 2, and 3, the abnormal X was isodicentric, with different break‐and‐fusion points in each case. In each, the G‐band pattern on one side of the breakpoint was a mirror image of that on the other side. Each had two distinct C‐bands, only one of which was associated with a primary constriction. The fourth patient had an isochromosome of the long arm of an X in which only one C‐band could be discerned. Replication studies were done on lymphocyte cultures by incorporating a thymidine analogue and staining with acridine orange. In addition, replication patterns of normal early‐ and late‐replicating X chromosomes were studied in two normal females. In the four patients, all the normal X chromosomes had normal early‐replication patterns. The two idic(X) chromosomes with break‐and‐fusion points on their long arms almost always had symmetric replication patterns, which demonstrates that the corresponding bands replicated synchronously. In contrast, many of the idic(X)(p11) and i(Xq) chromosomes showed asymmetric or asynchronous replication. In each, the replication pattern of the abnormal X was similar to the equivalent portions of a normal late‐replicating X.
The G and BBB syndromes: Case presentations, genetics, and nosology
Authors: Funderburk Steve J. , Stewart Ray , Opitz John M. 
Published: June 2005

AbstractHypertelorism and hypospadias are described in four unrelated boys; bilateral cleft lip and cleft palate were also present in two of the boys and mild mental retardation in another. These features are compatible with both the G and BBB syndromes. When present, laryngotracheoesophageal anomalies or respiratory and swallowing difficulties are characteristic features of the G syndrome; otherwise facial features may be useful in distinguishing the G and BBB syndromes. Cases 1 and 2 had anteverted nares and a broad and flat nasal bridge, and Case 1 had shortened palpebral fissures, all consistent with the G syndrome. In contrast, Cases 3 and 4 had a high and broad nasal bridge as previously described in the BBB syndrome. The father of Case 1 had mild hypertelorism and first‐degree hypospadias, demonstrating autosomal dominant inheritance in the G syndrome. The mothers of Cases 2, 3, and 4 all had mild hypertelorism consistent with autosomal dominant inheritance and partial male‐sex limitation, as previously proposed for both the G and BBB syndromes.
Small marker chromosome mosaicism confirmed in two cases ascertained prenatally
Authors: Kohn Gertrude , Shaham Meira , Ornoy Asher , Beyth Yoram , Cohen Maimon M. , Hoehn Holger 
Published: June 2005

AbstractTwo cases of chromosomal mosaicism were prenatally diagnosed and confirmed in tissues cultured from subsequently aborted fetuses. In both cases a small marker chromosome was observed which proved de novo in origin, since parental chromosomes were normal. The implications and interpretation of such findings in counselling families undergoing amniocenteses is discussed. Mosaicism for small marker chromosomes may be more frequent than hitherto suggested.
Niemann‐pick disease: Prenatal diagnoses and studies of sphingomyelinase activities
Authors: Wenger David A. , Wharton Candace , Sattler Martha , Clark Cameron , Scriver Charles R. 
Published: June 2005

AbstractFive pregnancies were monitored for couples at‐risk for having a child with some form of Niemann‐Pick disease (NPD). Three of these were for the classic Type A form in which affected children usually have less than 1% of normal sphingomyelinase activity. Two of these pregnancies were terminated after the cultured amniotic‐fluid cells were determined to have less than 1% of normal sphingomyelinase activity (0.4 and 0.6 nmole/mg protein/hr versus the control mean of 61.7). In the other pregnancy at risk for Type A NPD near normal activity was measured and it was contined to term. The two other pregnancies were monitored for couples in which severely affected children were found to have partially deficient sphingomyelinase activity (about 20% of normal) in cultured skin fibroblasts. Cultural amniotic‐fluid cells from one of these pregnancies also had about 20% of control sphingomyelinase activity, but the woman underwent a spontaneous abortion soon after the cells were received and no studies on the fetus were done. The other sample was taken at the time of abortion for social reasons. In this case the cultured amnioticfluid cells and cultured fetal skin fibroblasts gave normal sphingomyelinase activity.Enzymatic studies on tissues from the two fetuses predicted to be affected with Type A NPD confirmed the prenatal diagnosis. Studies of sphingomyelinase activity in the brains from these fetuses and from a child who died with Type A NPD indicated significant levels of activity when measured at pH 7.4 in the presence of magnesium. The higher level of the pH 7.4 sphingomyelinase activity in developing brain may indicate some important role in normal brain development.
Prenatal diagnosis of Wolman disease
Authors: Coates Paul M. , Cortner Jean A. , Mennuti Michael T. , Wheeler James E. , Kaback Michael M. 
Published: June 2005

AbstractTwo pregnancies at risk for Wolman disease were monitored by assay and electrophoresis of acid lipase in cultured amniotic‐fluid cells. Cells from patient 1 had 5% of control levels of acid lipase, using 14C‐triolein as substrate; however, when artificial substrates (esters of 4‐methylumbelliferone and p‐nitrophenol) were used to measure acid lipase, these cells had 30% of control levels. Electrophoresis of cell extracts revealed the absence of the A form of acid lipase, consistent with the diagnosis of Wolman disease. Analysis of fetal tissues following prostaglandin termination of this pregnancy confirmed the diagnosis. Assay of fetal‐skin fibroblasts with 14C‐triolein, as well as with artificial substrates, showed marked deficiency of acid lipase activity. Electrophoresis of fetal‐tissue extracts also demonstrated the absence of the A form of acid lipase. Amniotic‐fluid cells from patient 2 showed normal levels of acid lipase with all substrates tested; the electrophoretic pattern of acid lipase was normal. The results suggest that the prenatal diagnosis of Wolman disease be made using the radioassay of acid lipase and/or electrophoresis.
Inherited interstitial del(Xp) with minimal clinical consequences: With a note on the location of genes controlling phenotypic features
Authors: Herva Riitta , Kaluzewski Bogdan , de la Chapelle Albert , Summitt Robert L. 
Published: June 2005

AbstractIn a routine cytogenetic investigation of the outpatients of a hospital for the mentally retarded, a 26‐year‐old woman with a presumptive interstitial deletion of the short arm of one of the X chromosomes was found. The same aberration was found in her phenotypically normal mother and in one of her four sisters, all phenotypically normal. By GTG‐ and QFQ‐banding methods, the deletion was interpreted to involve the entire band Xp21 and adjacent parts of p11 and p22. The karyotype is written 46,X,del(X)(pter→p22::p11→qter). By autoradiography and Bud R acridine orange technique, the deleted X was the late replicating one in all three affected persons. The deletion apparently causes shortness of stature but no other phenotypic symptoms or signs. Hence a gene or genes controlling stature is located in band Xp21 or regions immediately adjacent to this band. Since the absence of this region does not cause streak gonads, it does not contain genes controlling the formation of the ovaries. This appears to be the first example of a heritable chromosome deletion compatible with a normal phenotype and reproduction.
H‐Y antigen in 46,XY pure testicular dysgenesis
Authors: Nazareth H. R. S. , Moreira‐Filho C. A. , Cunha A. J. B. , Vieira‐Filho J. P. B. , Lengyel A. M. J. , Lima M. C. , Optiz John M. 
Published: June 2005

AbstractClinical, cytogenetic, pathologic and histocompatibility‐Y (H‐Y) antigen studies were performed on a phenotypic female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpingo‐gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F‐body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46, XY chromosome constitution (Q‐banding). The data were consistent with a diagnosis of 46, XY pure testicular dysgenesis. Positive results for H‐Y antigen were found in this case.
Distal 2q duplication: Report of two familial cases and an attempt to define a syndrome
Authors: Zankl M. , Schwanitz G. , Schmid P. , Zankl H. , Dockter G. , Rodewald A. , Zang K. D. , Grosse K.‐P. 
Published: June 2005

AbstractTwo cases of partial trisomy 2q are described, both resulting from a balanced translocation in one of the parents. In one case the chromosomes 2 and 11 were involved [paternal karyotype: 46,XY,t(2;11)(q33;q23)]; in the second case, chromosomes 2 and 8 [paternal karyotype: 46,XY,t(2;8)(q32;p23)]. When the two patients were compared to the few cases reported in the literature, it was concluded that the associated clinical syndrome is characterized by severe psychomotor retardation and relatively mild abnormalities involving skull and facies.
Genetic and environmental determinants of periodontal disease
Authors: Rao D. C. , Chung C. S. , Morton N. E. 
Published: June 2005

AbstractReanalysis of data on periodontal disease in 241 families [Chung et al, 1977b], based on an extended and more satisfactory path model [Rao et al, 1979], failed to detect significant heritability, and concluded in favor of cultural inheritance only, without maternal effects or intergenerational differences. The most parsimonious hypothesis yields a relative variance component of 0.338 ± 0.024 due to indexed environment for both children and adults, the remainder (1.0 − 0.338 = 0.662) being due to residual nongenetic factors.
Stage of palate closure as one indication of “liability” to cleft palate
Authors: Vekemans M. , Fraser F. C. 
Published: June 2005

AbstractA new inbred mouse strain, SW/Fr, developed from a random‐bred SW stock has a 6% incidence of spontaneous cleft palate without cleft lip. SW/Fr mice close their palates comparatively late in development. After cortisone treatment, the mean of the distribution (mean time to reach palate stage 5) is shifted towards later gestational ages. There is no change in the variance of the distribution.These data lend further support to the hypothesis that cleft palate in mice may fit a model where a continuous distribution is separated into discontinuous parts by a developmental threshold, and that time of palate closure is an important component of liability to cleft palate.
A gene for hypospadias in a child with presumed tetrasomy 18p
Authors: Côté G. B. , Petmezaki S. , Bastakis N. 
Published: June 2005

AbstractThe proband and his elder brother had intrauterine growth retardation, hypospadias, cryptorchism, a high palate, distally placed axial triradii, and a functional and maturational CNS defect that improved with age and included the inability to suck, severe swallowing difficulties, and frequent vomiting. Their hypospadias is due to an autosomal dominant gene. The proband also had a small extra metacentric chromosome presumed to be an isochromosome 18p.
The effects of chorion type on normal and abnormal developmental variation in monozygous twins
Authors: Melnick Michael , Myrianthopoulos Ntinos C. 
Published: June 2005

AbstractTo determine the effects, if any, of chorion type on normal and abnormal developmental variation in monozygous (MZ) twins, we tested the hypothesis that disparate environments that are related to chorion type have no effect on this variation. The parameters studied included congenital anomalies and dermatoglyphics (total ridge count and right‐left asymmetry). With the exception of total ridge count, analyses of these data failed to reject the null hypothesis. Dichorionic MZ twins had a significantly greater within‐pair variation than monochorionic MZ twins for total ridge count. In summary, then, these data could offer little support to prior speculation that monochorial placentas may present less favorable environments for fetal development.
Deletion mapping: Further evidence for the location of acid phosphatase (ACP1) within 2p23
Authors: Emanuel B. S. , Zackai E. H. , Van Dyke D. C. , Swallow D. M. , Allen F. H. , Mellman W. J. 
Published: June 2005

AbstractThe human red cell acid phosphatase (ACP1) locus was assigned to region 2p23→2pter by Ferguson‐Smith et al [3], more specifically to 2p23 by Hamerton et al [5]. We describe two unrelated patients with deletion of chromosome 2, with similar breakpoints in the distal portion of band p23 (del(2) (p23)). ACP1 typing in both patients revealed heterozygous BA phenotypes. Thus, we assign the locus for ACP1 to the distal portion of 2p23.
Neuraminidase in Cultured Fibroblasts and Leucocytes of Homozygotes and Heterozygotes for the Mucolipidosis II Gene (I‐Cell Disease)
Authors: Potier M. , Melancon S. B. , Dallaire L. , Chicoine R. , Mameli L. , Bélisle M. 
Published: June 2005

AbstractThe significance of neuraminidase deficiency reported to be the primary defect in mucolipidosis II has been evaluated by determination of this enzyme activity in cultured fibroblasts, culture medium, and leucocytes from homozygote and heterozygous carriers of the disease. A new and sensitive fluorometric assay of neuraminidase was used with sodium (4‐methylumbelliferyl‐α‐D‐N‐acetylneuraminate) as substrate. We report: 1) nearly total deficiency of neuraminidase in mucolipidosis fibroblasts, 2) partial deficiency of this enzyme in leucocytes of one patient, 3) this decreased activity ceases to exist following Triton X‐100 treatment, and 4) intermediary mean neuraminidase activity in fibroblasts and leucocytes from obligate heterozygotes. Although these results would be consistent with the suggestion that neuraminidase deficiency is the primary defect in this disease, evidence from the work of other authors suggests that the enzyme deficiency results from a secondary effect of the mucolipidosis II mutation.
The questionnaire to parents of children with the Down syndrome: How to inform the parents and psychological responses to counseling
Authors: Shiono Hiroshi , Kadowaki Jun‐Ichi 
Published: June 2005

AbstractThis study determined the experience of 137 sets of parents when they were informed that their child had Down syndrome and how they would have preferred this matter to have been handled. The survey revealed that the majority of parents would have preferred being told as soon as possible, with both of them present, and that they had suspected something wrong at the birth of the child.This information prompted us to analyze critically the parental experiences and to formulate a positive approach, with sensitive, supportive, and progressive counseling.
The perrault syndrome: Autosomal recessive ovarian dysgenesis with facultative, non‐sex‐limited sensorineural deafness
Authors: Pallister Philip D. 
Published: June 2005

AbstractWe report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotropic manifestations.
Genetics of acheiropodia (“The handless and footless families of Brazil”): XI. Pathologic aspects
Authors: Marçallo F. A. , Pilotto R. F. , Freire‐Maia A. 
Published: June 2005

AbstractWe report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in Brazil in persons of Portuguese ancestry. The patient's parents were first cousins; she had two younger affected sisters. She presented with signs of vascular insufficiency of the lower stumps, which after amputation were found to lack large vessels below the knee.