bluuebunny/crossref_metadata_2025_split huggingface dataset:
Soft tissue facial areas and volumes in subjects with Down syndrome
Authors: Sforza Chiarella , Dellavia Claudia , Zanotti Gianfranco , Tartaglia Gianluca M. , Ferrario Virgilio F. 
Published: August 2004

AbstractThe objective of this study was to supply quantitative information about the facial soft‐tissues of a group of subjects with Down syndrome. The three‐dimensional coordinates of 28 soft‐tissue facial landmarks were obtained by an electromechanic digitizer in 17 male and 11 female subjects with Down syndrome aged 12–45 years, and in 429 healthy individuals of the same age, ethnicity, and sex. From the landmarks, facial areas (eyes, ears, nose, and lips) and volumes (nose and lips) were calculated according to a geometrical model of face. Data were compared to those collected in the normal subjects by computing z‐scores. Male and female z‐scores were not significantly different. Most of the facial volumes were significantly (Student's t, P < 0.05) smaller in subjects with Down syndrome than in their normal controls. Ear areas were significantly reduced (mean z‐scores in males −2.07 right, −1.9 left; in females −2.11 right, −2.21 left), as well as nasal surface area (mean z‐score −1.53 in males, −2.45 in females). In women, age and some z‐scores were significantly correlated (P < 0.05): upper lip volume (r = 0.714), left and right eye area (r = 0.635, right; 0.604, left), nasal area (r = 0.603): with increasing age, the negative values of the z‐scores approached the 0 value of the reference population. In the pooled sample, age and the z‐score of the total lip area were significantly correlated (r = 0.423): increasing age corresponded to a larger z‐score value. The method allowed a simple, low cost, fast, and noninvasive examination of the subjects, and provided a quantitative assessment of the deviation from the norm. © 2004 Wiley‐Liss, Inc.
“The Lion, the Witch and the Wardrobe”: Impact on sibs of individuals with AAT deficiency
Authors: Fanos Joanna H. , Strange Charlie 
Published: August 2004

AbstractAlpha1‐antitrypsin (AAT) deficiency is a genetic disorder that may cause serious pulmonary or liver impairment in children or adults. Although genetic sequencing of the AAT gene has only been available for 20 years, analysis of the amount and electrophoretic mobility of the AAT protein has allowed clinical phenotyping for more than 40 years. There have been no studies assessing the psychological impact of having a sib affected by AAT deficiency. Twenty‐five participants drawn from the Alpha‐1 Research Registry completed a questionnaire and semi‐structured interview. Respondents were supportive of testing prior to adulthood for AAT status; 18 thought it was a good idea to test a child, three did not know, and four said children should not be tested, primarily citing insurance concerns. Of those 18 who stated it was a good idea, 14 would test at birth. Knowledge of genetics of AAT deficiency was limited; only 44% of respondents understood the inheritance pattern. We recommend: (1) parents and sibs need help in mourning the loss of children with AAT deficiency; young sibs are at risk for trauma and long‐term developmental problems. (2) Teams evaluating donors for liver transplantation should be aggressive in ruling out AAT deficiency prior to invasive testing. (3) Testing should be offered to individuals with a family history of AAT deficiency to obtain the health benefits of lifestyle modification and limit the burden of disease discovery in symptomatic relatives. (4) Awareness of liver disease from AAT deficiency should be increased. © 2004 Wiley‐Liss, Inc.
Genetic significance of skewed X‐chromosome inactivation in premature ovarian failure
Authors: Sato Kazuyo , Uehara Shigeki , Hashiyada Masaki , Nabeshima Hiroshi , Sugawara Jun‐ichi , Terada Yukihiro , Yaegashi Nobuo , Okamura Kunihiro 
Published: August 2004

AbstractTo determine the relationship between premature ovarian failure (POF) and skewed X‐chromosome inactivation (XCI), karyotype, and XCI status in 43 patients with POF (group I) and 43 age‐matched control women with regular menstrual cycles (group II) were evaluated. Evaluation of XCI status was based on the CAG triplet repeat polymorphism assay in the androgen receptor gene after sodium bisulfite treatment of DNA samples, and XCI patterns were classified as random (XCI < 70% skewing) or skewed (≥70%). Furthermore, skewed XCI was classified under three different thresholds (≥70, ≥80, or ≥90%). Karyotyping by G‐banding and fluorescence in situ hybridization (FISH) on peripheral blood lymphocytes showed that one patient in group I had a deletion of Xq22, and another was 47,XXX. The frequency of low‐level 45,X/46,XX mosaicism was nearly equal in both groups. In women without any X‐chromosomal aberrations, the incidence of skewed XCI in group I was significantly higher than in group II on all threshold levels. Furthermore, extremely skewed XCI (≥90%) was observed only in group I. These results indicate that POF may be caused by some underlying genetic disorders, which may induce skewed XCI. © 2004 Wiley‐Liss, Inc.
Association of CYP17 with HLA‐B27‐negative seronegative spondyloarthropathy in Japanese males
Authors: Mori Kanji , Kizawa Hideki , Ushiyama Toshio , Chano Tokuhiro , Inoue Hisashi , Tsuchiya Naoyuki , Okabe Hidetoshi , Matsusue Yoshitaka , Ikegawa Shiro 
Published: August 2004

AbstractSusceptibility genes for seronegative spondyloarthropathy (SNSA) other than HLA‐B27 remain unclarified. Sex hormones are implicated in the pathogenesis of SNSA. Cytochrome P450c17a (CYP17) is a key regulator of androgen biosynthesis, and a single nucleotide polymorphism (SNP) in the 5′‐untranslated region of the CYP17 gene (CYP17), −34C > T, is associated with variety of diseases. We have investigated the association between the CYP17 SNP and SNSA in Japanese males. Genomic DNA was extracted from 149 Japanese male SNSA patients and 380 controls. The CYP17 SNP was genotyped using polymerase chain reaction‐restriction fragment length polymorphism analysis. Allelic and genotypic frequencies of the SNP were compared between SNSA patients and controls, and within SNSA patients. We also computed haplotype frequencies using an expectation‐maximization algorithm, analyzed the difference between SNSA and control groups, and examined the potential association of other known SNPs in the CYP17 gene. The frequency of the −34T allele was significantly increased in HLA‐B27‐negative SNSA, but not in total or HLA‐B27‐positive SNSA when compared to controls. The T allele was more prevalent in HLA‐B27‐negative SNSA than in HLA‐B27‐positive SNSA, and the T/T genotype was over‐represented in HLA‐B27‐negative SNSA. Haplotype analysis did not demonstrate more significant association. The CYP17 SNP is associated with SNSA in HLA‐B27‐negative Japanese males. © 2004 Wiley‐Liss, Inc.
BRCA1/2testing in hereditary breast and ovarian cancer families: Effectiveness of problem‐solving training as a counseling intervention
Authors: McInerney‐Leo Aideen , Biesecker Barbara Bowles , Hadley Donald W. , Kase Ronald G. , Giambarresi Therese R. , Johnson Elizabeth , Lerman Caryn , Struewing Jeffery P. 
Published: August 2004

AbstractIt remains uncertain whether members of hereditary breast and ovarian cancer (HBOC) families experience psychological distress with genetic testing and whether pre‐test counseling can have a moderating effect on client well‐being. One purpose of this study was to assess change in psychological well‐being from baseline to 6–9 months follow‐up and the effect of a problem‐solving training (PST) intervention on psychological well‐being. Two hundred and twelve members of 13 HBOC families were offeredBRCA1/2testing for a previously identified family mutation. Participants received education and were randomized to one of two counseling interventions; PST or client‐centered counseling. Psychological well‐being was assessed at baseline and again at 6–9 months following the receipt of test results, or at the equivalent time for those participants who chose not to undergo testing. Well‐being was assessed using measures of depressive symptoms (CESD), intrusive thoughts (IES), cancer worries, and self‐esteem. Comparisons were made between those who chose testing and those who did not as well as between those who received positive and negative test results. One hundred eighty one participants elected to undergo genetic testing (85%) and 47 of these (26%) were identified asBRCA1/2mutation carriers. Breast and ovarian cancer worries decreased significantly (p = 0.007 and 0.008, respectively) in those who tested negative while there was no appreciable change in psychological well‐being from baseline to follow‐up in either those who tested positive or in non‐testers. Among all participants, particularly testers, those randomized to PST had a greater reduction in depressive symptoms than those randomized to client‐centered counseling (p < 0.05 andp = 0.02, respectively). Regardless of the decision to test, individuals with a personal history of cancer (n = 22) were more likely to have an increase in breast cancer worries compared to those who had never been diagnosed with cancer (p < 0.001). Results suggest that a problem‐solving counseling intervention may help to enhance psychological well‐being following testing and that a personal history of cancer may increase psychological distress associated with genetic testing. Published 2004 Wiley‐Liss, Inc.
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13
Authors: Narkis Ginat , Landau Daniella , Manor Esther , Elbedour Khalil , Tzemach Anna , Fishelson Ma'ayan , Geiger Dan , Ofir Rivka , Carmi Rivka , Birk Ohad S. 
Published: August 2004

AbstractWe have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urinary bladder. Association of LCCS2 to the known loci associated with arthogryposis was excluded. In the present study, we set out to determine the genetic locus harboring the gene defective in this disease. We performed genome‐wide linkage analysis, demonstrating linkage to a ∼6 cM (corresponding to ∼7.2 Mb) homozygosity region on chromosome 12q13 between markers D12S1604 and D12S83. Based on recombination events, the interval harboring the disease‐associated locus was further narrowed to a region spanning ∼6 cM (∼6.4 Mb) between D12S325 and D12S1072. Linkage of LCCS2 to that locus was established, with two significant maximum peaks at markers D12S1604 (Zmax = 10.56 at θ = 0.01) and D12S1700 (Zmax = 9.23 at θ = 0.00). © 2004 Wiley‐Liss, Inc.
Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)
Authors: Hou Jia‐Woei 
Published: August 2004

AbstractA female newborn suffering from congenital arhinia with complete airway obstruction is reported. In addition, she had hypertelorism, microphthalmia, high‐arched palate, and hypoplasia of the auditory canal and mastoid and facial bones, along with the absence of olfactory bulbs and tracts. She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia. © 2004 Wiley‐Liss, Inc.
Exploratory study of the feasibility and utility of the colored eco‐genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer
Authors: Peters June A. , Kenen Regina , Giusti Ruthann , Loud Jennifer , Weissman Nancy , Greene Mark H. 
Published: August 2004

AbstractWe report here the results of an exploratory feasibility study of the colored eco‐genetic relationship map (CEGRM), a novel, recently‐developed psychosocial assessment tool, which incorporates features of the genetic pedigree, family systems genogram, and ecomap. The CEGRM presents a simple, concise, visual representation of the social interaction domains of information, services, and emotional support through the application of color‐coded symbols to the genetic pedigree. The interactive process of completing the CEGRM was designed to facilitate contemporary genetic counseling goals of: (a) understanding the client in the context of her/his social milieu; (b) bolstering client self‐awareness and insight; (c) fostering active client participation and mutuality in the counseling interaction; (d) eliciting illuminating social narratives; and (e) addressing outstanding emotional issues. Twenty women participating in a breast imaging study of women from families with BRCA1/2 mutations completed and evaluated various aspects of the CEGRM. We found that efficient construction of the CEGRM was feasible, and that compliance was excellent. Participants developed insights into their social milieu through observing the visual pattern of relationships illustrated by the CEGRM. The process of co‐constructing the CEGRM fostered the participant's active involvement in the session, marked by mutuality and increased empathy. In this clinical research context, the participants felt free to share poignant stories about their friends and families. Further studies are planned to refine the CEGRM and to examine its utility in cancer genetics research. Published 2004 Wiley‐Liss, Inc.
Do parents and grandparents of patients with achondroplasia have a higher cancer risk?
Authors: Stoll C. , Feingold J. 
Published: August 2004

AbstractSeveral studies, performed according to hypotheses based on teratogenesis and carcinogenesis have tried to answer the question: Do parents of children with congenital anomalies have a higher cancer risk? If the general answer is no, however, a higher risk for cancer was reported in the parents of children with cleft lip/palate (Zhu et al. [2002: Br J Cancer 87:524–528]). In achondroplasia, the neo‐mutations are from paternal origin raising the hypothesis of the existence of a “mutator” gene acting in male meiosis and in somatic, mitotic cells in both sexes which may favor also the occurrence of cancer. In order to test this hypothesis, a questionnaire was sent to people with non‐familial achondroplasia, asking for cancer, lymphoma, and leukemia in their parents and grandparents. In the hypothesis tested, the maternal lineage was the control. One hundred forty eight answers were obtained from 76 males and 72 females with achondroplasia. Out of them 68 had parents and/or grandparents with cancer. Among the grandparents of people with achondroplasia there were 36 cancers including two lymphomas in the paternal grandparents, 20 cancers including two chronic myeloid leukemia (CML) in the paternal grandmothers, 22 cancers including two CML in the maternal grandfathers, and two cancers in the maternal grandmothers. Paternal grandfathers and grandmothers had significantly more cancers (56) than maternal grandfathers and grandmothers (24) (χ2‐test = 14.80, P < 0.001). In conclusion, paternal grandfathers and grandmothers of people with achondroplasia had significantly more cancers than maternal grandfathers and grandmothers. This result raises hypotheses in relationship with the paternal origin of neo‐mutations in achondroplasia. © 2004 Wiley‐Liss, Inc.
Nasal dimensions in normal subjects: Conventional anthropometry versus computerized anthropometry
Authors: Sforza Chiarella , Dellavia Claudia , Colombo Anna , Serrao Graziano , Ferrario Virgilio F. 
Published: August 2004

AbstractThe aim of the current investigation was to compare computerized measurements of nasal linear distances (nasal tip protrusion, height of the cutaneous upper lip, length of the nasal bridge) collected from 705 healthy individuals from Northern Italy (age range 6–60 years) using an electromagnetic digitizer with conventional anthropometric measurements: one set obtained on individuals of central European origin (Zankl et al. [2002: Am J Med Genet 111:388‐391]), and one set collected from North American Caucasians (Farkas et al. [1994: Anthropometry of the Head and Face 241–335]). On average, the present lengths of the nasal bridge were always significantly smaller than the European data (P < 0.01, Student's t for independent samples). Nevertheless, only in one sex and age group of 18 the discrepancy between the two mean values was larger than 10 mm. In other 10 groups, the mean values differed less than 5 mm. More limited differences (up to 6.5 mm) were found in comparison to the American data. For nasal tip protrusion, digital and conventional data were significantly different (up to 4 mm) in 18 instances of 30. On average, the present heights of the cutaneous upper lip were always smaller than the European data (up to 2.9 mm). The differences were statistically significant in 14 groups of 18. Minor discrepancies (less than 1 mm in nine groups of 12) were found in comparison to the American data. Statistical significance was reached only in seven comparisons. In conclusion, the conventional anthropometric and the digital data compared in the current study, though not superimposable, seemed sufficiently interchangeable, at least from a clinical point of view. © 2004 Wiley‐Liss, Inc.
Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22
Authors: Battini R. , Battaglia A. , Bertini V. , Cioni G. , Parrini B. , Rapalini E. , Simi P. , Tinelli F. , Valetto A. 
Published: August 2004

AbstractThe clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named “22q13.3 deletion syndrome.” We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for “22q13.3 deletion syndrome” was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA‐299D3 and RP5‐925J7 probe, located in 22q13.32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient. © 2004 Wiley‐Liss, Inc.
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome
Authors: Zenker Martin , Tralau Tim , Lennert Thomas , Pitz Susanne , Mark Karlheinz , Madlon Henry , Dötsch Jörg , Reis André , Müntefering Horst , Neumann Luitgard M. 
Published: August 2004

AbstractWe observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven children from both families presented with a similar course of renal disease starting with nephrotic syndrome and renal failure prenatally or immediately after birth that resulted in death before the age of 2 months. Kidney histopathology showed diffuse mesangial sclerosis (DMS). Clinically obvious eye abnormalities were recognized in six of the eight patients in whom sufficient clinical data were available. Ocular anomalies included enlarged or large appearing corneae in some cases suggesting buphthalmos, and extremely narrow, nonreactive pupils (microcoria). Pathological examination of the eyes of two aborted fetuses revealed a more complex ocular maldevelopment including posterior lenticonus as well as anomalies of cornea and retina. On the basis of these observations and other cases in the literature, we delineate a previously unrecognized distinct entity characterized by congenital nephrotic syndrome, DMS, and eye abnormalities with microcoria as the leading clinical feature. Pedigrees of affected families with parental consanguinity support autosomal recessive inheritance. We propose that this syndrome should be designated microcoria‐congenital nephrosis syndrome or Pierson syndrome. Possible overlap with Galloway–Mowat syndrome and relations to other oculo‐renal syndromes are discussed. © 2004 Wiley‐Liss, Inc.
CAG repeat polymorphism within the KCNN3 gene is a significant contributor to susceptibility to anorexia nervosa: A case‐control study of female patients and several ethnic groups in the Israeli Jewish population
Authors: Koronyo‐Hamaoui Maya , Gak Eva , Stein Daniel , Frisch Amos , Danziger Yardena , Leor Shani , Michaelovsky Elena , Laufer Neil , Carel Cynthia , Fennig Silvana , Mimouni Marc , Apter Alan , Goldman Boleslav , Barkai Gad , Weizman Abraham 
Published: August 2004

AbstractThe human small‐conductance Ca2+‐activated potassium channel gene KCNN3 has been involved in mechanisms underlying neuronal function and plasticity. A multiallelic CAG repeat polymorphism within the KCNN3 has been associated with schizophrenia and bipolar disorder. We have previously reported in a family‐based study that longer CAG repeats are preferentially transmitted to patients with anorexia nervosa (AN). The present study extends the analysis of KCNN3 allele distribution to a larger series of AN female patients and control groups, incorporating information on ethnicity and co‐morbidities associated with AN. The data analysis is presented while considering separately the two alleles of each individual, namely a minor (shorter) and a major (longer) allele. This study has found that the KCNN3 allele distribution in the general Israeli population does not differ significantly in at least four Jewish ethnic groups of Ashkenazi, North African, Iraqi, and Yemenite origin. These have been used as control groups in a matched case‐control analysis that has demonstrated a significant over‐representation of KCNN3 alleles with longer CAG repeats among AN patients (P < 0.001 for the major allele and P = 0.035 for allele sum). Under dichotomization, a significantly higher prevalence of the L allele (>19 repeats) has been observed among AN patients (P < 0.001). While considering AN and co‐morbid phenotypes, a tendency towards longer (L) alleles has been observed in the subset of patients with obsessive‐compulsive disorder (OCD) co‐morbidity. These findings further implicate KCNN3 as a significant contributor to predisposition to AN. © 2004 Wiley‐Liss, Inc.