bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital anomalies concomitant with persistent primary congenital hypothyroidism
Authors: Siebner Ran , Merlob Paul , Kaiserman Igor , Sack Joseph 
Published: June 2005

AbstractThe Israeli national neonatal screening program for congenital hypothyroidism (CH) was initiated in May 1978. The overall incidence of persistent primary congenital hypothyroidism (PPCH) during the first 10 years of screening was 1:2,950 live births. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with PPCH and to compare it with the Israeli Birth Defect Monitoring System data. Among 243 PPCH infants on whom adequate data were available, 38 infants (15.6%) had associated congenital anomalies. Fourteen infants had congenital cardiac anomalies (5.8%): VSD (n = 7), PDA (n = 3), PS (n = 2), one mitral insufficiency, and one congenital atrial flutter. Eight children (3.3%) had congenital dislocation of the hip; their M:F ratio was 3:5 similar to the M:F ratio in CH (unlike the ratio in the general population). Some additional anomalies were considerably more common than in the general population. It is reasonable to assume that teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETA. © 1992 Wiley‐Liss, Inc.
First prenatal diagnosis of X‐linked lymphoproliferative disease
Authors: Skare James , Madan Suneeta , Glaser Joy , Purtilo David , Nitowsky Harold , Pulijaal Venkat , Milunsky Aubrey 
Published: June 2005

AbstractA family study was performed in order to diagnose X‐linked lymphoproliferative (XLP) disease in a fetus. The molecular genetic analysis indicated that the fetus, as well as its healthy 7‐year‐old brother, inherited XLP. Analysis of immunoglobulin subclasses from the 7‐year‐old brother supported the DNA‐based diagnosis. This is the first XLP family of African descent. © 1992 Wiley‐Liss, Inc.
Cytogenetic and molecular studies in the Prader‐Willi and Angelman syndromes: An overview
Authors: Knoll J. H. M. , Wagstaff J. , Lalande M. 
Published: June 2005

AbstractThe majority of patients with Angelman syndrome and Prader‐Willi syndrome have a cytogenetic and molecular deletion of chromosome 15q11q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these 2 clinically distinct syndromes will be discussed in this review. © 1993 Wiley‐Liss, Inc.
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
Authors: Clayton‐Smith Jill 
Published: June 2005

AbstractClinical information has been obtained on 82 Angelman syndrome (AS) families in the UK. Each patient was examined by the author and a detailed clinical history taken. The findings of this study are presented. © 1993 Wiley‐Liss, Inc.
Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes
Authors: Michalski Karen , Rauer Mary , Williamson Nancy , Perszyk Anthony , Hoo Joe J. 
Published: June 2005

AbstractDe novo supernumerary small ring chromosomes have mainly been reported in pediatric patients with clinical abnormalities, thus, there may be bias of ascertainment. Reports on prenatally diagnosed cases with postnatal follow‐up are rare. With the availability of chromosome specific alpha‐satellite centromeric probes, the interest in these previously unidentifiable supernumerary small ring chromosomes has been rekindled [Callen et al.: J Med Genet 27:155–159, 1990; Callen et al.: Am J Hum Genet 48:769–782, 1991; Callen et al.: Am J Med Genet 43:709–715, 1992]d.We report on 2 prenatal diagnosis cases, where a ring was noted in 25 and 60% of the amniocytes, respectively. The initial G‐ and C‐banding in Case 1 allowed an assumption of a chromosome 1 origin of the extra chromosome. This was confirmed by fluorescence in situ hybridization (FISH) studies using the appropriate probes. No similar initial assumption could be made in Case 2; thus, random trials with multiple probes were performed. A chromosome 19 origin in Case 2 was eventually concluded.The large amount of C‐band positive material on the extra chromosome and the normal level 2 fetal ultrasound examination suggested a favorable outcome in both cases, but the possibility of mental retardation could not be ruled out. An empiric risk figure with regard to prenatally diagnosed de novo supernumerary small ring chromosome is not available. Although the decision making processes of the parents were different, they both decided to continue the pregnancy. At age 9 months and 11/2 years both children, a girl and a boy, showed normal growth and development. © 1993 Wiley‐Liss, Inc.
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature
Authors: Powell Cynthia M. , Taggart R. Thomas , Drumheller Timothy C. , Wangsa Damrong , Qian Chiping , Nelson Lawrence M. , White Beverly J. 
Published: June 2005

AbstractWe have identified a patient with premature ovarian failure (POF) and a balanced X;autosome translocation: 46,X,t(X;6)(q13.3 or q21;p12) using high‐resolution cytogenetic analysis and FISH. BrdU analysis showed that her normal X was late‐replicating and translocated X earlier‐replicating which is typical of balanced X;autosome rearrangements. Molecular studies were done to characterize the breakpoint on Xq and to determine the parental origin. PCR probes of tetranucleotide and dinucleotide repeat polymorphisms, and genomic probes were used to study DNA from the patient, her chromosomally normal parents and brother, and somatic cell hybrids containing each translocation chromosome. The translocation is paternally derived and is localized to Xq13.3‐proximal Xq21.1, between PGK1 and DXS447 loci, a distance of 0.1 centimorgans.A “critical region” for normal ovarian function has been proposed for Xq13‐q26 [Sarto et al., Am J Hum Genet 25:262–270, 1973; Phelan et al., Am J Obstet Gynecol 129:607–613, 1977; Summitt et al., BD:OAS XIV(6C):219–247, 1978] based on cytogenetic and clinical studies of patients with X;autosome translocations. Few cases have had molecular characterization of the breakpoints to further define the region. While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3‐q27 [Krauss et al., N Engl J Med 317:125–131, 1987; Davies et al., Cytogenet Cell Genet 58:853–966, 1991] or within Xq26.1‐q27 [Tharapel et al., Am J Hum Genet 52:463–471, 1993] responsible for POF. We now propose that there may be a second gene for POF (POF2) located at Xq13.3‐q21.1. © 1994 Wiley‐Liss, Inc.
Natural history of body mass index in Williams‐Beuren syndrome
Authors: Pankau R. , Partsch C.‐J. , Neblung A. , Gosch A. , Wessel A. , Schaub J. 
Published: June 2005

AbstractBody mass index (BMI) is a useful tool for the investigation of obesity or underweigh. It follows a typical pattern throughout childhood. During the first few years of life underweight due to feeding problems and gastrointestinal disturbances is considered a common sign in Williams‐Beuren syndrome (WBS), whereas obesity is frequently reported in WBS adults. Systematic studies on weight gain and body mass index in WBS do not exist. Therefore, we studied weight gain relative to height expressed as BMI in 82 WBS girls (459 measurements of weight and height) and in 104 WBS boys (562 measurements). At birth BMI was significant lower in WBS than in normal infants in both sexes (P < 0.0001). During the first months of life, mean BMI showed a catch‐up from the 3rd to the 10th‐50th centiles in WBS infants relative to the normal standards. The further course of BMI was almost parallel to normal development. In addition, a gradual relative increase to the 50th centile of normal was seen in both sexes. In conclusion, weight gain during the first year of life was sufficient. Feeding and gastrointestinal problems seem not to have a severe impact on weight gain in infancy. Until adulthood weight relative to height continuously reached the 50th centile of normal. Thus, obesity is not a common finding in young adults with WBS. The results of this study may serve as a disease‐specific reference of BMI development in WBS patients. © 1994 Wiley‐Liss, Inc.
Molecular diagnosis of Prader‐Willi syndrome: Parent‐of‐origin dependent methylation sites and non‐isotopic detection of (CA)n dinucleotide repeat polymorphisms
Authors: Lerer Israela , Meiner Vardiella , Pashut‐Layon Iris , Abeliovich Dvorah 
Published: June 2005

AbstractWe describe our experience in the molecular diagnosis of 22 patients suspected of Prader Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent‐of‐origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA)n dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by this approach, 6 with paternal deletion and 4 with maternal disomy. In one patient, the aberrant methylation pattern that was detected by PW71 could not be confirmed by the segregation of (CA)n, probably due to paternal microdeletion in the PWS critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS. © 1994 Wiley‐Liss, Inc.
Long‐chain 3‐hydroxyacyl‐Coenzyme A dehydrogenase (L‐CHAD) deficiency in a patient with the Bannayan‐Riley‐Ruvalcaba syndrome
Authors: Fryburg Julie S. , Pelegano John P. , Bennett Michael J. , Bebin E. Martina 
Published: June 2005

AbstractBannayan‐Riley‐Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long‐chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long‐chain‐L‐3‐hydroxyacyl‐CoA dehydrogenase (L‐CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L‐CHAD deficiency may be the cause of the lipid myopathy in BRRS. © 1994 Wiley‐Liss, Inc.
Surface alterations during the capacitation of mammalian spermatozoa
Authors: Koehler James K. 
Published: June 2005

AbstractCapacitation is the process by which mammalian sperm acquire the ability to undergo the acrosome reaction which, in turn, is a prerequisite for sperm‐egg fusion and penetration. Until recently, it was thought that capacitation involved subtle physiological and chemical changes which had no morphological counterparts even at the electron microscopic level. However, it has now been shown by a number of investigators that material associated with the plasma membrane surface is either lost or extensively redistributed during in vitro or in vivo capacitation. We have made use of lectins and antibodies as probes of the sperm surface during capacitation and the acrosome reaction. Concanavalin A (Con A), wheat germ agglutinin (WGA) and soybean agglutinin (SBA) have been used in conjunction with fluorescent tags (FITC) and ultrastructural markers (ferritin, hemocyanin) to study the surface of golden hamster, guinea pig, mouse and human spermatozoa. Con A and WGA label the plasma membrane overlying the acrosomal region quite uniformly on these species. After capacitation there is a specific loss (or masking) of lectin binding sites over the acrosomal region of the sperm head in all species examined. Antibodies prepared against sperm and specific antibodies to a cell surface protein (fibronectin) were also tagged with fluorescent or ultrastructural markers and used to label the surfaces of sperm before and after capacitation. These probes also indicate a specific loss of surface associated material over the acrosomal surface after capacitation. These results are consistent with the notion that there is a general removal of surface components during capacitation and that this denuding of the surface is a prerequisite for the following membrane fusion events involved in the acrosome reaction and sperm‐egg fusion.
Endocrine control of spermatogenesis in primates
Authors: Graham Charles E. 
Published: June 2005

AbstractControl of primate spermatogenesis is reviewed in terms of endogenous regulatory mechanisms and endocrine approaches to contraception and treatment of infertility. The role of gonadotropins and steroid hormones in maintaining spermatogenesis in primates is incompletely understood because A) hormonal interactions are complex, and B) most studies have used rodents rather than primates. Feedback control, interaction of LH and testosterone, the role of androgen, androgen in secondary sex organs, regulation of receptor proteins, roles of prolactin and growth hormone, and the breakdown and modification of the endocrine control mechanism are reviewed. The treatment of infertility with GnRH, gonadotropins, and androgen is discussed. Information is included on contraception research using the following methods: immunization against GnRH, use of GnRH analogs, immunization against gonadotropins, induced suppression of FSH secretion or action, and steroid suppression of spermatogenesis. The importance of studying testicular steroid metabolism in primates is stressed. Significant advances in the understanding of endocrine control of spermatogenesis have been made in recent years, but no primate species have been thoroughly studied. Variability between species in endocrine control mechanisms is an important factor in selecting primate models, and it is clear that such models can be valuable in the development of male contraceptives.
Primates: Their use in research on vasectomy
Authors: Alexander Nancy J. 
Published: June 2005

AbstractStudies based on experimental vasectomies clearly reveal marked species differences in response to vasectomy. In rats, vasectomy invariably results in granuloma formation at the surgical site. In rabbits, immune‐complex orchitis develops. Allergic orchitis may also develop in guinea pigs, and the morphological lesions can be adoptively transferred. My co‐workers and I have been able to study systematically, biochemically, hormonally, pathologically, and immunologically, primates vasectomized up to 14 years earlier and to compare them with age‐matched controls. We have monitored antibody levels in vasectomized rhesus and cynomolgus macaques by sperm‐agglutination, sperm‐immobilization, and indirect immunofluorescence techniques. Antibodies develop in almost every monkey, in some as early as 10 days after vasectomy. About 50% retain such circulating antisperm antibodies. In men, antibody development is less rapid, and about half of vasectomized men reveal detectable levels. Testicular histopathological studies have revealed detectable levels. Testicular histopathological studies have revealed orchitis, aspermatogenesis, or both, resembling allergic orchitis in most of the vasectomized monkeys and in about one‐fourth of the controls. Limited studies of human material reveal some testicular changes. Epididymitis and epididymal granuloma occur exclusively in the vasectomized animals. Use of immunofluorescence has revealed significantly more granular deposits of IgA, IgG, and/or C3 in the basal lamina of the ductus efferens and the caput epididymidis of the vasectomized monkeys. Similar studies on human material have not been done. Both cynomolgus and rhesus macaques have proved to be excellent models for research in atherosclerosis and so have been used to determine whether constant sperm antigen leakage causes immune‐complex formation that might result in arteritis and atherosclerosis. Evaluation of the cardiovascular systems from such animals has revealed that vasectomized monkeys have more frequent, more extensive, and more severe arteriosclerosis than age‐matched controls. Epidemiological studies are currently under way to determine whether such an effect also occurs in men after vasectomy.
Characterization of radiolabeled components of human sperm surface and seminal plasma
Authors: Goodman S. A. , Young Leona G. 
Published: June 2005

AbstractExternally oriented components on the human sperm cell surface and components in human seminal plasma were labeled by enzymatic iodination with lactoperoxidase and [125I] NaI. SDS‐7.5% PAGE of labeled sperm surface resolved one minor and four major components with approximate molecular weights of 92, 72, 46, 30, and 20K daltons, respectively. SDS‐7.5% PAGE of labeled seminal plasma resolved five components with approximate molecular weights of 74, 51, 43, 28, and 20K daltons. Three of the five moieties seen on the sperm surface and in seminal plasma were similar in molecular weight. This suggested that these surface components were adsorbed from seminal secretions. Because the iodination procedure used labels both proteins and lipids, labeled sperm surface and labeled seminal plasma were subjected to isopycnic density gradient centrifugation to identify the chemical composition of the radioiodinated components. With human sperm surface, two areas of radioactivity were resolved in CsCl gradients, one corresponding to protein and the other to lipid. With human seminal plasma, only one area of radioactivity, corresponding to protein, was identified. Electrophoretic analysis of each peak of radioactivity obtained from the gradients demonstrated that all of the sperm surface and four of five seminal plasma components were in the protein fractions. All three of the seminal plasma components which correspond to sperm surface components were recovered in the protein fraction. This observation supports our hypothesis that some of the proteins labeled on the human sperm cell surface are adsorbed from seminal secretions.
Seminal parameters in rhesus monkeys under physiological conditions and in studies for male fertility control using FSH antibodies or LH‐RH‐agonists
Authors: Wickings E. J. , Zaidi P. , Nieschlag E. 
Published: June 2005

AbstractTo characterize the male rhesus monkey as a nonhuman primate model for human testicular functions, parameters of exocrine and endocrine testicular function were monitored in 16 adult male‐rhesus monkeys for 1 and 5 years respectively. Testicular volumes in‐season (October–January) were twice as great as in out‐of‐season animals (March–June). Ejaculations, both spontaneous and electrostimulated, ceased out‐of‐season. In 37 ejaculates obtained by electrostimulation in‐season, sperm counts ranged from 110–1,100 million/ejaculate, 65% of sperm were motile and 60% were normally formed. Testicular histology showed regression of spermatogenesis out‐of‐season, with the diameter of the tubules being only one third of that in‐season. Circannual changes in exocrine testicular function were accompanied by parallel fluctuations in pituitary and endocrine testicular functions, as evidenced by basal hormone levels and the production rate of testosterone, as well as the response to LH‐RH throughout the year.As FSH is required for spermatogenesis in rhesus monkeys, we initiated a study on the long‐term effects of active immunization against FSH as a possible means of fertility control. After the first 2 years of observation we can conclude that the production of specific antibodies to FSH results in suppression of spermatogenesis (oligospermia and occasional azoospermia) without affecting endocrine function. The lack of adverse side effects may encourage further investigations on this approach to fertility control.LH‐RH‐agonists exert degenerative effects on testicular function in rats via a down regulation of the pituitary and testis. A 12 week treatment of four adult monkeys in‐season with Hoe 766 (Hoechst; 4μg/day for eight weeks, 20μg/day for 4 weeks sc) did not reveal any change in sperm counts or motility, although some pituitary desensitization was evident. It remains to be investigated whether even higher doses may result in a suppression of spermatogenesis.
Micropuncture and microanalytical studies of rhesus monkey and baboon epididymis and the human ductus deferens
Authors: Hinton B. T. , Setchell B. P. 
Published: June 2005

AbstractUsing micropuncture and microanalytical techniques, we studied the microenvironment surrounding the maturing spermatozoa in different regions along the epididymis of the rhesus monkey (Macaca mulatta; 3 animals) and the baboon (Papio cynocephalus; 1 animal) and in the human ductus deferens. In the monkey and baboon, samples of luminal contents (luminal fluid and spermatozoa) of approximately 50 to 300 nanolitres were collected from several epididymal sites and the luminal fluid analyzed for inositol. Similarly, a sample of approximately 0.5 to 1.0 μl of luminal contents was collected from each human ductus deferens and the luminal fluid analyzed for sodium, potassium, chloride, inositol, carnitine, glycerophosphocholine (GPC), phosphocholine and total phosphate. Each analysis required the modification of standard methods to accommodate the very small sample volumes collected. We show that the microenvironment in the monkey, baboon, and human is different from those in other species with respect to the concentration of compounds estimated. In the luminal fluid of the human ductus deferens, the majority of the osmoticallyactive compounds are the inorganic ions which is in direct contrast to the rat, hamster, rabbit, ram and boar. In these species, organic compounds contribute significantly more to the osmolarity of the luminal fluid than do inorganic ions. Although the significance of these findings is unclear, a relationship seems to exist between the appearance of carnitine in the luminal fluid of the proximal caput epididymidis of the rat and the point where spermatozoa develop the potential for motility. These investigations also raise the question of which species most closely reflects the physiology of the reproductive system of man.
Positional and activity behavior in a captive slow loris: A quantitative assessment
Authors: Glassman David M. , Wells James P. 
Published: June 2005

AbstractThis study examines the positional and activity behavior of a captive slow loris, Nycticebus coucang. The male individual was housed in a primate facility providing a seminatural environment and was subjected to a series of videotape recordings from which 1,878 point observations were taken. The enclosure was designed to allow maximum flexibility of substrate use. Quantitative information detailing activity, positional mode, and substrate geometry was collected using a checklist of 15 variables. Data were tabulated and compared as frequency distributions to describe activity budgets, the use of locomotor and postural modes, and the relation of posture to activity behavior and substrate geometry. The results indicated that almost 90% of the active day may be devoted to behaviors directly or indirectly related to dietary functions. For locomotor behavior, both climbing and walking were associated with the use of diagonal couplets. The loris devoted 52% of its positional behavior to postural modes, favoring the quadrupedal stand, triplets, and sitting. Suspension was found to be used more often in posture than locomotion. Overall, the loris's repertory of positional modes accommodated a wide range of substrate geometries.