bluuebunny/crossref_metadata_2025_split huggingface dataset:
Insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme and myocardial infarction
Authors: Bøhn M. , Berge K. E. , Bakken A. , Erikssen J. , Berg K. 
Published: July 2010

Bøhn M, Berge KE, Bakken A, Erikssen J, Berg K. Insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme and myocardial infarction.Clin Genet 1993: 44: 292–297. © Munksgaard, 1993Male (n = 185) and female (n = 49) survivors of myocardial infarction (MI) below 56 and 61 years of age, respectively, were compared to 366 controls with respect to distribution of genotypes in an insertion/deletion (ID) polymorphism at the angiotensin I‐converting enzyme (ACE) locus. The frequency of the DD genotype (homozygosity for the deletion allele) was significantly lower among male patients than controls (22.7% versus 34.9%, p = 0.011). In a “low‐risk” group, defined as having less than the sex‐specific, age‐adjusted median values of body mass index (BMI) and apolipoprotein B (apoB), respectively, and absence of treatment with lipid‐lowering drugs, the prevalence of the DD genotype was not statistically different between male patients and controls. In a male “high‐risk” group (those individuals who had not been defined as “low‐risk” subjects), the prevalence of the DD genotype was 20.9% in patients and 38.3% in controls (p = 0.002). In women, no significant differences in genotype frequencies between patients and controls were found in the whole sample or in any subgroup. These results appear to be at variance with data reported recently by Cambien et al. (1992). The difference may be due to chance, undetected selection biases, different gene‐environment interactions between Norway and France or Ireland, or to preferential loss of DD individuals in our male “high‐risk” group.
Adenine for guanine substitution — pairs 5‘ to the apolipoprotein (APO) A4 gene: relation with hgh density lipoprotein cholesterol and APO A‐I concentrations
Authors: Civeira Fernando , Pocovi Miguel , Cenarro Ana , Garces Carmen , Ordovas Jose M. 
Published: July 2010

Civeira F, Pocovi M, Cenarro A, Garces C, Ordovas JM. Adenine for guanine substitution 78 base pairs 5′ to the apolipoprotein (APO) A‐I gene: relation with high density lipoprotein cholesterol and APO A‐I concentrations.Clin Genet 1993: 44: 307–312. © Munksgaard, 1993A common mutation, adenine (A) for guanidine (G) substitution (G/A) has been located78 bp 5′ to the apo A‐I gene. This region has been shown to be involved in the transcriptional regulation of the apo A‐I gene. Previous studies have shown that this mutation is associated with altered high density lipoprotein cholesterol (HDL‐C) levels, although these findings have not been consistent. We have studied the frequency of this mutation in 125 subjects (60 males and 65 females) selected because they had HDL‐C levels below the 25th (low HDL) or above the 75th (high HDL) percentile of the population distribution. The presence of the mutation was detected by Msp I digestion of a 259 bp fragment of PCR amplified DNA. The allele frequency was similar in both groups (0.20 for the lowest HDL group and 0.28 for the highest HDL group, p>0.05), although a non‐significant trend was observed in a higher frequency of the A/A genotype in the highest HDL females (17.5%) vs only 6.7% in the lowest HDL female group. In conclusion, in this population the G/ A mutation was not significantly associated with HDL‐C or apo A‐I plasma levels.
Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population
Authors: Chabás A. , Castellvi S. , Bayés M. , Balcells S. , Grinberg D. , Vilageliu Ll. , Marfany G. , Lissens W. , Gonzàlez‐Duarte R. 
Published: July 2010

Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L1, Marfany G, Lissens W, Gonzàlez‐Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet 1993: 44: 320–323. © Munksgaard, 1993Pseudodeficiency in arylsulphatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). Unambiguous discrimination between the two conditions cannot be achieved through conventional enzyme activity assays. A PCR method has been developed which detects the pseudodeficiency (pd) allele using a single pair of primers encompassing the mutation site and hair follicles as the source of DNA. The frequency of this allele in the Spanish population has been evaluated and correlations between different genotypes and ASA activity levels have been established. Ten out of 55 individuals were heterozygous for the ASA pd allele, while two were homozygous. The allele frequency was thus 12.7%.
Schizophrenia genetics at the millennium: cautious optimism
Authors: Gottesman Irving I. , Moldin Steven O. 
Published: July 2010

The views expressed here are the personal opinions of the authors and should not be taken to imply agreement or endorsement by the National Institutes of Health or the Federal Government.As the new millennium approaches, research into the genetic aspects of schizophrenia has already made an impressive start toward an integrated model which is discovering roles for genetic agents, environmental agents and experiences, and chance factors. The best model follows that proposed for understanding such complex diseases as coronary artery disease and diabetes. Genetic information has come from both genetic epidemiology and molecular genetics. Evidence for gene regions on 6p and 8p gives the strongest support for harboring schizophrenia susceptibility genes, based on international collaborative studies that “generally” replicate one another; evidence for regions on 3p, 5q, 9p, 20p, and 22q, while less compelling, will encourage focused work. Determining the steps between the regions and the phenotype will challenge the next generation of scientists.
Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis
Authors: Adams Paul C 
Published: July 2010

Background: A genetic test for hemochromatosis has allowed for the first time, genotypic identification of heterozygotes. The purpose of this study is to determine whether genotyping of spouses of homozygotes results in fewer investigations of children and subsequent cost savings. Methods: Two hundred and ninety one children of homozygotes were studied using HLA typing, transferrin saturation and serum ferritin. Ninety six percent of the probands were homozygous for the C282Y mutation of the HFE gene. Pedigrees were reviewed to determine cost savings incurred if the spouse had been genotyped to guide follow‐up studies in the children. Paternity was confirmed by HLA studies. Results: There were 13 homozygotes identified. All homozygous children tested (10/10) were homozygous for the C282Y mutation. There were no iron loaded children identified in homozygotes negative for the C282Y mutation. Genotyping of the spouse eliminated the need for the investigation of 269 children. The cost savings of this strategy were modeled using the cost of the family studies (consultation, iron studies) minus the cost of spouse assessment (consultation, genotyping) plus the cost of assessment of children in families in which the spouse was a heterozygote. The spousal genotyping strategy resulted in a cost savings of 39%. Conclusion: Genotying the spouse of a homozygote is the best cost‐efficient strategy in pedigree studies because it leads to more selective investigation of children for the hemochromatosis gene.
G2 repair in Nijmegen breakage syndrome: G2 duration and effect of caffeine and cycloheximide in control and X‐ray irradiated lymphocytes
Authors: Pincheira J. , Bravo M. , Santos M.J 
Published: July 2010

Lymphocytes from a patient with the Nijmegen breakage syndrome (NBS/NBS) and his parents (NBS/+) have been analyzed to identify possible disturbances in chromosomal G2 repair. The study included the determination of G2 duration and the analysis of the chromosomal aberration frequencies in lymphocytes with/without caffeine and cyclohexemide (CHM) treatments during G2, under control and X‐irradiated conditions. Under control conditions, NBS/NBS lymphocytes showed that the basal chromosomal damage as well as the damage detected in G2, with caffeine treatment, and the G2 duration were higher than cells from an age‐matched control. In X‐irradiated NBS/NBS lymphocytes. the basal and G2 chromosome aberration frequencies were higher than in the controls; however, no significant differences in G2 duration were detected between these two type of cells.Under X‐irradiated conditions, NBS/+ lymphocytes showed that while the level of chromosomal damage in G2 and the duration of this cell cycle phase were similar to the control cells, the frequency of unrepaired chromosomal lesions was higher than in the control lymphocytes. No significant differences in chromosomal damage and G2 duration were detected in NBS/+ lymphocytes compared to the control cells, under control conditions.CHM treatment, which induces an increase in G2 duration, decreased the basal spontaneous and X‐ray induced chromosome aberration frequency in NBS/NBS and NBS/+ lymphocytes. These results suggest that NBS lymphocytes might be affected by some disturbances in their ability to extend the G2 duration, which may be influencing their DNA repair efficiency in this phase of the cell cycle.
Molecular and cytogenate analysis of an X/autosomal translocation: 45, X, dic(X;17)(p22.2;p13)
Authors: Eggermann Thomas , Mau Ulrike , Klein‐Vogler Ute , Kendziorra Heidemarie , Mackensen‐Haen Susanne , Sieverding Ludger , Enders Herbert , Kaiser Peter 
Published: July 2010

We present an unusual case of monosomy 17p13‐pter and monosomy Xp22.2‐pter due to a dicentric translocation chromosome X/17 in a female newborn with severe anomalies. The karyotype was identified as 45, X, dic(X;17)(p22.2;p13) by high resolution GTG banding in lymphocytes. R banding showed the translocational X‐chromosome to be late replicating, and there was no spreading of X‐inactivation onto the autosomal segment. Furthermore, it could be demonstrated by C banding that the X‐centromere in the translocation chromosome was inactive.The results of short tandem repeat (STR) typing confirmed the partial monosomy X and 17 as well as the paternal origin of the two chromosomes X and 17 which were involved in the translocation chromosome formation. The cell stage of the structural rearrangement was consistent with paternal meiosis as well as with postzygotic mitosis. The monosomy was confirmed in lymphocytes and fibroblasts, and mosaicism was not detected.
A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)
Authors: Walasek Malgorzata Krajewska , Gutkowska Anna , Bielińska Beata , Goryluk‐Kozakiewicz Bozenna , Popowska Ewa 
Published: July 2010

We report on a case of Prader‐Willi syndrome (PWS) with a true reciprocal unbalanced translocation, 45,XX,‐15,der(11)t(11;15)pat. The proposita was diagnosed clinically as having severe PWS. Molecular studies revealed loss of the paternal methylation pattern at locus D15S63 and a deletion encompassing the loci from at least D15S10 to D15S97 of paternal chromosome 15. FISH studies confirmed the deletion of 15q11‐q13 region and the presence of two telomeres on all chromosomes. The proposita's father, the father's sister and their mother are all carriers of the same balanced translocation t(11;15)(q25;q13). By genomic imprinting we would expect that if the father's sister were to give birth to a child with the same unbalanced translocation as the proband, it would be affected by Angelman syndrome.To date, a similar familial unbalanced translocation due to loss of the small chromosome 15 derivative has not been described.
New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies
Authors: Steinlein Ortrud K. 
Published: July 2010

Steinlein OK. New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.For many years, idiopathic epilepsies have been known to have a strong genetic background. In most subtypes, the mode of inheritance appears to be complex, with only some rare idiopathic epilepsies being monogenic disorders. Thus far, several gene loci have been reported for the common subtypes, such as juvenile myoclonic epilepsy, but the results of linkage studies in independent samples have often been conflicting. Recently, the gene defects underlying two monogenic epilepsies, autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions. have been identified. Both diseases are caused by ion channel mutations, a similarity which may shed light on the understanding of the basic mechanisms of epileptogenesk.
Three novel PROC gene lesions causing protein C deficiency
Authors: Hallam PJ , Mannucci P. , Tripodi A. , Bevan D. , Lawsen B. , Tengborn L. , Wacey A. , Coopel DN 
Published: July 2010

Hallam PJ, Mannucci P, Tripodi A, Bevan D, Laursen B, Tengborn L, Wacey A, Cooper DN. Three novel PROC gene lesions causing protein C deficiency. Clin Genet 1998: 54: 231–233. 0 Munksgaard, 1998Missense mutations. three of them novel (Am210→Val, Asn248→ Ile, Ah355→Val), were found in the protein c (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing hdernophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosis
Authors: Zhong Nan , Krystyna  , Wisniewski E. , Hartikainen Jaana , Ju Weina , Moroziewicz Dorota N. , McLendon Lucille , Brooks Susan Sklower , Brown W Ted 
Published: July 2010

Zhong N, Wisniewski KE, Hartikainen J, Ju W, Moroziewicz DN, McLendon L, Sklower Brooks S, Brown WT. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosisLate infantile neuronal ceroid lipofuscinosis (LINCL) is one of the most common pediatric neuronal degenerative disorders. A candidate gene underlying this disease, designated CLN2, was recently cloned and the gene product was characterized as a lysosomal pepstatin‐insensitive carboxypeptidase (LPIC). Four mutations were identified in CLN2 from three unrelated LINCL individuals. To investigate further the mutation frequency in LINCL, we screened 16 LINCL probands for these four mutations. The previously reported intronic mutation, T523–1 G°C, was found in 56% (9/16) of the cases, of which two were homozygous and accounted for 34% (11/32) of LINCL chromosomes. The previously reported nonsense mutation, 636 C→T leading to R208stop, was found in 31% (5/16) of the cases, including one ho‐mozygote and accounted for 19% (6/32) of LINCL chromosomes. Two previously described missense mutations, 1107 T°C and 1108 G→A, were not detected in any of these 16 probands. In total, the two observed mutations, T523–1 G°C and 636 C→T, accounted for 53% (17/32) of LINCL alleles. Thus, one or both mutations were seen in 11 (69%) cases and no mutation has yet been identified in five. Our finding that these two mutations are common in LINCL cases adds further evidence in support of the idea that dysfunction of LPIC underlies LINCL. Positive molecular testing can now complement clinical diagnosis of LPIC and will allow for pre‐natal diagnosis for subsequent pregnancies.
Susceptibility genes in breast cancer: more is less?
Authors: Willems Patrick J 
Published: July 2010

PALB2, which encodes a BRCA2‐interacting protein, is a breast cancer susceptibility gene Rahman et al. (2007) Nature Genetics 39: 165–167A common coding variant in CASP8 is associated with breast cancer risk Cox et al. (2007) Nature Genetics 39: 352–358A genome‐wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer Hunter et al. (2007) Nature Genetics 39: 870–874Genome‐wide association study identifies novel breast cancer susceptibility loci Easton et al. (2007) Nature 447: 1087–1093Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer Stacey et al. (2007) Nature Genetics 39: 865–869
The effect of adding intrathecal magnesium sulphate to bupivacaine–fentanyl spinal anaesthesia
Authors: Özalevli M. , Cetin T. O. , Unlugenc H. , Guler T. , Isik G. 
Published: July 2010

Background:  The addition of intrathecal (IT) magnesium to spinal fentanyl prolongs the duration of spinal analgesia for vaginal delivery. In this prospective, randomized, double‐blind, controlled study, we investigated the effect of adding IT magnesium sulphate to bupivacaine–fentanyl spinal anaesthesia.Methods:  One hundred and two ASA I or II adult patients undergoing lower extremity surgery were recruited. They were randomly allocated to receive 1.0 ml of preservative‐free 0.9% sodium chloride (group S) or 50 mg of magnesium sulphate 5% (1.0 ml) (group M) following 10 mg of bupivacaine 0.5% plus 25 µg of fentanyl intrathecally. We recorded the following: onset and duration of sensory block, the highest level of sensory block, the time to reach the highest dermatomal level of sensory block and to complete motor block recovery and the duration of spinal anaesthesia.Results:  Magnesium caused a delay in the onset of both sensory and motor blockade. The highest level of sensory block was significantly lower in group M than in group S at 5, 10 and 15 min (P < 0.001). The median time to reach the highest dermatomal level of sensory block was 17 min in group M and 13 min in group S (P < 0.05). The mean degree of motor block was also lower in group M at 5, 10 and 15 min (P < 0.001). The median duration of spinal anaesthesia was longer in group M (P < 0.001).Conclusion:  In patients undergoing lower extremity surgery, the addition of IT magnesium sulphate (50 mg) to spinal anaesthesia induced by bupivacaine and fentanyl significantly delayed the onset of both sensory and motor blockade, but also prolonged the period of anaesthesia without additional side‐effects.
Prevalence and causative fungal species of tinea capitis among schoolchildren in Gabon
Authors: Hogewoning A. A. , Adegnika A. A. , Bouwes Bavinck J. N. , Yazdanbakhsh M. , Kremsner P. G. , van der Raaij‐Helmer E. M. H. , Staats C. C. G. , Willemze R. , Lavrijsen A. P. M. 
Published: July 2010

SummaryTinea capitis is endemic among schoolchildren in tropical Africa. The objective was to determine the prevalence of symptomatic tinea capitis in schoolchildren in Gabon. A cross‐sectional study was conducted with 454 children aged 4–17 years, attending a rural school and an urban school. The diagnosis of tinea capitis was based on clinically manifest infection, direct microscopic examination using 20% potassium hydroxide (KOH) solution and fungal culture. Based on clinical examination, 105 (23.1%) of 454 children had tinea capitis. Seventy‐four (16.3%) children were positive by direct examination (KOH) and/or fungal culture. The prevalence of tinea capitis depended on the school studied and ranged from 20.4% in the urban school with a higher socioeconomic status to 26.3% in the rural school with a lower socioeconomic status. Similarly, the spectrum of causative species varied between the different schools. Taken the schools together, Trichophyton soudanense (29.4%) was the most prominent species, followed by Trichophyton tonsurans (27.9%) and Microsporum audouinii (25.0%). Clinically manifest tinea capitis is endemic among schoolchildren in the Lambaréné region in Gabon. The prevalence of tinea capitis and the causative species depended on the type of school that was investigated.
Cure rate, duration required for complete cure and recurrence rate of onychomycosis according to clinical factors in Korean patients
Authors: Ko Joo Yeon , Lee Ha Eun , Jae Hur , Oh Dae Heon , Kim Joung Soo , Yu Hee Joon 
Published: July 2010

SummaryMany factors affect the cure rate (CR), duration required for complete cure (DC) and the recurrence rate (RR) of onychomycosis. The aim of this study was to evaluate the CR, DC and RR in onychomycosis according to various clinical factors. We retrospectively reviewed medical records of 637 Korean patients with onychomycosis between December 2000 and December 2006. We examined six clinical factors to evaluate the effects on the CR, DC and RR: age, sex, clinical type, treatment pattern, presence of diabetes mellitus (DM) and the extent of nail involvement. On the view of the clinical nail appearance and potassium hydroxide (KOH) preparation, we designated the CR, DC and RR. In addition, we examined the differences in the CR, DC and RR in terms of the above‐mentioned clinical factors. A total of 207 eligible patients were finally analysed. The CR as a whole was 78.3%, the DC was 31.7 ± 18.4 weeks and the RR was 36.0%. There were significant differences in the CR, DC and RR according to the extent of nail involvement. Age affects the CR and DC, and DM also affects the DC and RR. We found that the extent of nail involvement, age and DM affect the CR, DC and RR of onychomycosis.
CB1 receptor‐mediated control of the release of endocannabinoids (as assessed by microdialysis coupled with LC/MS) in the rat hypothalamus
Authors: Béquet Frédéric , Uzabiaga Françoise , Desbazeille Mathieu , Ludwiczak Pascal , Maftouh Mohamed , Picard Claudine , Scatton Bernard , Le Fur Gerard 
Published: July 2010

AbstractIn the present study, we examined the occurrence and potential regulation of endocannabinoid release by cannabinoid CB1 receptors in the rat brain. To this end, we developed a highly sensitive (limit of sensitivity 30–300 amol) new analytical method, combining online brain microdialysis with solid‐phase extraction–liquid chromatography–tandem mass spectrometry, which allowed the detection in real time of trace amounts of endocannabinoids in the extracellular fluid. In the hypothalamus, anandamide and 2‐arachidonoyl‐glycerol release was stimulated following depolarization via local administration of K+, with or without addition of Ca2+, or glutamate application. Inhibition of fatty acid amide hydrolase by systemic administration of intraperitoneal (i.p.) URB597 (0.5 mg/kg) induced an increase of anandamide, but not 2‐arachidonoyl‐glycerol, outflow. The CB1 receptor antagonist rimonabant (10 mg/kg i.p.) increased, whereas the CB1 agonist WIN55,212‐2 (2.5 mg/kg i.p.) decreased, anandamide release. Interestingly, the same treatments induced opposite changes in 2‐arachidonoyl‐glycerol release. At a dose of 3 mg/kg i.p., which by itself did not affect endocannabinoid release, rimonabant fully antagonized the effect of WIN55,212‐2 (2.5 mg/kg i.p.). Taken together, these results suggest that CB1 receptors are able to control the local release of endocannabinoids in the hypothalamus via a feedback mechanism and strengthen the view that anandamide and 2‐arachidonoyl‐glycerol have distinct physiological roles.