bluuebunny/crossref_metadata_2025 huggingface dataset:
Psychosocial Genetic Counseling in the Post‐Nondirective Era: A Point of View
Authors: Weil Jon
Published: June 2003

For three decades nondirectiveness has served as the central ethos for genetic counseling. It has evolved from narrow definitions defining what should not be done to broad definitions that promote active counseling skills in support of client autonomy and informed decision making. As broad definitions have been formulated, the term “nondirective” has become largely irrelevant to their content; it persists primarily as a historic relic. It has thus become an impediment to creative theory and clinical practice. I propose that nondirectiveness be replaced as the central ethos, while relevant components (providing balanced information, not imposing the counselor's values) are retained as elements of practice and ethics. This raises the question of what principle(s) should be adopted as a new guiding ethos. To promote a discussion of that issue I propose that the central ethos of genetic counseling should be to bring the psychosocial component into every aspect of the work.
Reducing Psychological Distress in a Genetic Counseling Consultation for Breast Cancer
Authors: Duric Vlatka , Butow Phyllis , Sharpe Louise , Lobb Elizabeth , Meiser Bettina , Barratt Alexandra , Tucker Katherine
Published: June 2003

High levels of cancer specific distress have been found before and after genetic counseling for breast cancer. This study investigated the process of reducing distress during 111 genetic counseling consultations for familial breast cancer. Consultations were audiotaped, transcribed, and a detailed coding system developed to measure cues of emotional distress from the patient, and consultant (clinical geneticist or genetic counselor) behaviors before and after the cues. At least 1 emotional cue was given in 64 consultations, with a median of 1 cue per consultation. More emotional cues of distress occurred when the consultant responded empathetically to the first cue of distress. Satisfaction outcomes were largely positive regardless of the consultant's attentiveness to distress. Postconsultation depression scores were significantly reduced if more empathic responses were given, but anxiety remained the same. These results are discussed and recommendations are made for improving patient care.
MMPI‐2 F scale elevations in adult victims of child sexual abuse
Authors: Flitter Jill M. Klotz , Elhai Jon D. , Gold Steven N.
Published: June 2003

The present study assessed whether the Minnesota Multiphasic Personality Inventory—2 (MMPI‐2) F scale elevations may reflect genuine trauma‐related distress and/or psychopathology, rather than malingering, in a clinical sample of adult child sexual abuse (CSA) victims. Eighty‐eight women seeking outpatient treatment for CSA after‐effects participated. Self‐report measures of dissociation, posttraumatic stress, depression, and family environment individually correlated significantly with F, and collectively accounted for 40% of its variance. Dissociation was the strongest predictor. Findings suggest that high F elevations may reflect genuine problem areas often found among CSA victims, rather than symptom overreporting.
Participation in trauma research: Is there evidence of harm?
Authors: Griffin Michael G. , Resick Patricia A. , Waldrop Angela E. , Mechanic Mindy B.
Published: June 2003

Few studies have examined the impact of trauma research participation upon trauma survivors. Empirical data regarding reactions to research participation would be very useful to address the question of whether it is harmful for trauma survivors to participate in trauma studies. We examined participant reactions to different trauma assessment procedures in domestic violence (N = 260), rape (N = 108), and physical assault (N = 62) samples. Results indicated that participation was very well tolerated by the vast majority of the trauma survivors. Participants generally found that the assessment experience was not distressing and was, in fact, viewed as an interesting and valuable experience. The findings suggest that trauma survivors are not too fragile to participate in trauma research even in the acute aftermath of a traumatic experience.
Effects of context and question type on endorsement of childhood sexual abuse
Authors: Fricker Adrienne E. , Smith Daniel W. , Davis Joanne L. , Hanson Rochelle F.
Published: June 2003

Use of contextual information and behaviorally specific questions have been found to detect higher rates of child sexual abuse (CSA); however, no study has examined the use of contextual information or question type within 1 study. This study examined 236 college students randomly assigned to 1 of 4 conditions: noncontext/label questions, noncontext/specific question, context/label questions, context/specific questions. Reported history of CSA did not differ across presentation of videotaped contextual information. However, respondents endorsed behaviorally specific questions significantly more (32%) than label questions (9%). Results suggest that researchers and clinicians attempting to detect childhood victimization history should utilize multiple behaviorally specific screening questions.
The relationship between self‐disclosure and symptoms of posttraumatic stress disorder in peacekeepers deployed to Somalia
Authors: Bolton Elisa E. , Glenn D. Michael , Orsillo Susan , Roemer Lizabeth , Litz Brett T.
Published: June 2003

The challenges of peacekeeping place individuals at risk for the development of significant psychological distress (e.g., B. T. Litz, S. Orsillo, M. Freidman, P. Ehlich, & A. Batres, 1997). Self‐disclosure has been shown to ameliorate psychological distress following exposure to potentially traumatic events (J. W. Pennebaker & K. D. Harber, 1993). Sharing, or self‐disclosure of deployment‐related experiences, was the focus of this study and was hypothesized to be associated with adaptation. As part of a larger investigation, 426 U.S. military personnel who served as peacekeepers in Somalia were administered a comprehensive psychosocial questionnaire that included measures of exposure to negative and potentially traumatic experiences, reception at homecoming, self‐disclosure, and PTSD symptom severity. The results indicate that adjustment to peacekeeping is significantly related to self‐disclosure, especially to supportive significant others.
Time does not heal all wounds: Quality of life and psychological distress of people who survived the Holocaust as children 55 years later
Authors: Amir Marianne , Lev‐Wiesel Rachel
Published: June 2003

The present study assessed posttraumatic stress disorder (PTSD) symptoms, psychological distress, and subjective quality of life (QoL) in a group of 43 child Holocaust survivors and a community sample of 44 persons who had not personally experienced the Holocaust. The participants were administered the PTSD‐Scale, the SCL‐90, and the WHOQOL‐Bref. Results showed that the child survivors had higher PTSD symptom scores, higher depression, anxiety, somatization, and anger–hostility scores; and lower physical, psychological, and social QoL than did the comparison group. The findings suggest that the psychological consequences of being a child during the Holocaust can be long lasting.
Service utilization and outcomes in medically ill veterans with posttraumatic stress and depressive disorders
Authors: Kramer Teresa L. , Booth Brenda M. , Han Xiaotong , Williams D. Keith
Published: June 2003

This study examined behavioral health service utilization, health‐related quality of life, and psychological distress in medically hospitalized male veterans (N = 743) with and without current or lifetime comorbid posttraumatic stress disorder (PTSD) and depressive disorder. Participants completed psychiatric and psychosocial self‐report measures at baseline and follow‐up. Clinical/functional status and service utilization rates were compared for patients with PTSD only, depressive disorder only, comorbid PTSD/depressive disorder, and neither disorder. Patients with PTSD/depressive disorder were more likely to use mental health/substance abuse services, have longer lenghts of stay, and report more psychological distress than others. Results indicate that screening, early detection, and referral are critical in treating these comorbid patients because of increased psychological distress and high service‐use rates.
Children's memory for trauma and positive experiences
Authors: Berliner Lucy , Hyman Ira , Thomas Ayanna , Fitzgerald Monica
Published: June 2003

Characteristics of children's memory for a trauma and for a positive event were compared and relationships of memory characteristics to trauma symptoms examined in 30 children who experienced a traumatic event. Results revealed that memories for trauma tended to have less sensory detail and coherence, yet have more meaning and impact than did memories for positive experiences. Sexual traumas, offender relationship, and perceived life threat were associated with memory characteristics. Few relationships between memory characteristics and trauma symptoms were found. Therapist ratings of child memory characteristics were correlated with some child trauma memory characteristic reports. These results are consistent with other studies. Possible explanations include divided attention during the traumatic event and cognitive avoidance occurring after the event.
Effect of cognitive behavioral therapy on heart rate variability during REM sleep in female rape victims with PTSD
Authors: Nishith Pallavi , Duntley Stephen P. , Domitrovich Peter P. , Uhles Matthew L. , Cook Brenda J. , Stein Phyllis K.
Published: June 2003

Six female rape victims with posttraumatic stress disorder (PTSD) were assessed for sleep disturbances. Five responded to cognitive–behavioral therapy (CBT) and one did not complete treatment. Sympatho‐vagal balance was measured using heart rate variability (HRV) during rapid eye movement (REM) sleep. The treatment responders significantly decreased on HRV while the noncompleter increased. The responders also significantly decreased on sleep disturbances. The noncompleter remained unchanged. Thus a remission in PTSD symptoms following CBT accompanied a reduction in the HRV indicator of sympathetic predominance in REM sleep.
Sensitivity and specificity of the PTSD checklist in detecting PTSD in female veterans in primary care
Authors: Lang Ariel J. , Laffaye Charlene , Satz Leslie E. , Dresselhaus Timothy R. , Stein Murray B.
Published: June 2003

PTSD affects a substantial number of women in medical settings and is associated with significant distress and impairment. There are effective methods of treating trauma‐related distress, but a minority seek such care. Thus, primary care is an important setting in which to identify individuals with PTSD. We sent questionnaires, including the PTSD Checklist—Civilian Version (PCL‐C), to 419 female veterans who were seen in our primary care clinic in 1998; 56% (N = 221) returned the measures. A random subset (n = 49) was interviewed to establish psychiatric diagnoses. The results provide qualified support for the use of the PCL‐C total score with a lowered cutoff score as a screening measure for PTSD in female veterans in primary care.
Multistation studies of the simultaneous occurrence rate of Pc 3 micropulsations and magnetic impulsive events
Authors: Shields D. W. , Bering E. A. , Alaniz A. , Mason S. E. M. , Guo W. , Arnoldy R. L. , Engebretson M. J. , Hughes W. J. , Murr D. L. , Lanzerotti L. J. , Maclennan C. G.
Published: June 2003

This study reports simultaneous observations of two different phenomena whose sources may be either near the magnetopause or in the solar wind: Pc 3 micropulsations and high‐latitude magnetic impulsive events (MIEs), whose best studied subset comprises traveling current vortices (TCVs). Isolated Pc 3 emissions that occurred simultaneously with MIE or TCV events and appeared to have the same horizontal speed as the TCVs have been reported. This observation suggests that these events were on the same geomagnetic field lines and may share a common source. The current study reports a search of existing databases for simultaneous Pc 3‐MIE observations. The databases that were searched are the South Pole search coil magnetometer data during 1985–1986 and the Magnetometer Array for Cusp and Cleft Studies (MACCS) database from 1992 to 1993. The rate of occurrence of joint Pc 3 bursts and high‐latitude impulsive events has been consistently found to be ∼70–90%, depending on the database. The rate of coincidence is so high that it suggests that search algorithms based on ground‐based data that seek “clean” MIE signals may be omitting some events owing to the presence of large‐amplitude ULF emissions. A reverse search for candidate MIEs occurring during dayside Pc 3 bursts doubled the number of candidate MIEs in the database. The final results show that 91% of all MIEs were accompanied by Pc 3 emissions, and 43% of all 10–30 min bursts or banded enhancements in Pc 3 emission were accompanied by an MIE. A statistical analysis confirms that the correlation rates are statistically significant. The observed dependence of the properties of the MIE‐concurrent Pc 3s on the solar wind and interplanetary magnetic field is consistent with previous studies of Pc 3s of solar wind origin.
Tectonic erosion of the Peruvian forearc, Lima Basin, by subduction and Nazca Ridge collision
Authors: Clift Peter D. , Pecher Ingo , Kukowski Nina , Hampel Andrea
Published: June 2003

Subsidence of Lima Basin, part of the Peruvian forearc, is controlled by tectonic erosion by the subducting Nazca plate. Multichannel seismic reflection data coupled with age and paleowater depth constraints derived from Ocean Drilling Program (ODP) coring now allow the rates of erosion to be reconstructed through time. In trenchward locations the forearc has experienced limited recent relative uplift (700–850 m) likely due to preferential basal erosion under the center of Lima Basin. Long‐term subsidence driven by basal tectonic erosion dominates and is fastest closest to the trench. Since 47 Ma (Eocene) up to 148 km of the plate margin have been lost at an average rate of up to 3.1 km myr−1. Appoximately 110 km of that total appears to be lost since 11 Ma, implying much faster average rates of trench retreat (10 km myr−1) since collision of the Nazca Ridge with the Lima Basin at 11 Ma. Although there is no clear subsidence event at ODP Site 679 during the time at which Nazca Ridge was subducting beneath this part of the forearc (4–11 Ma), the more trenchward ODP Sites 682 and 688 show significant deepening after 11 Ma indicating that subduction of the ridge accelerates tectonic erosion. Long‐term rates of crustal erosion in the region of Lima Basin are greater than estimates of regional arc magmatic productivity, implying that such margins are net sinks of continental crust.
Three‐dimensional model of modern channel bend deposits
Authors: Cardenas M. Bayani , Zlotnik Vitaly A.
Published: June 2003

We present a three‐dimensional model of heterogeneous modern channel bend deposits developed through purely structure‐imitating interpolation (kriging) of hydraulic properties. This model, augmented with ground‐penetrating radar data and directional variograms, agrees with detailed observations in similar modern environments and leads to a process‐based interpretation of the presented hydraulic conductivity structure. Integration of all available information permitted delineation and characterization of the modern streambed as a distinct hydrostratigraphic unit without coring or outcrop studies. Our results imply that the modern streambed is commonly oversimplified in available analytical and numerical models of groundwater‐surface water interactions where it is assumed to be homogeneous and isotropic and characterized by a constant width and thickness. This three‐dimensional approach that integrates concepts and principles developed in sedimentology, hydrogeology, geophysics, and geostatistics has potential implications on model development of stream‐aquifer systems.
North American, Asian, and Indian haze: Similar regional impacts on climate?
Authors: Quinn Patricia K. , Bates Timothy S.
Published: June 2003

Pollution plumes recur seasonally downwind of the Indian subcontinent and Asian continent due to industrial and vehicular emissions, biomass burning, and wind‐blown dust. These plumes have been well documented by field campaigns and satellite observations and the environmental implications of the “Asian Brown Cloud” have been widely publicized in a recently released UNEP report [UNEP and C4, 2002]. Recent field experiments, however, demonstrate that the U.S. pollution plume can be as intense (in terms of aerosol mass concentration, aerosol optical depth, and ozone mixing ratio) as those downwind of India and Asia affecting regional climate along the U.S. East Coast. The use of identical sampling protocols in these experiments has been key in eliminating sampling biases and making the data directly comparable.
Teleseismic imaging of alpine crustal underthrusting beneath Niberia
Authors: Díaz J. , Gallart J. , Pedreira D. , Pulgar J. A. , Ruiz M. , López C. , González‐Cortina J. M.
Published: June 2003

The deep crustal structure of the northern part of Iberia, extensively explored by active seismic methods, has been investigated here by the teleseismic receiver function (RF) technique. Two N‐S transects were implemented across the Cantabrian Mountains (CMT) and the western Pyrenees (WPT). The resulting RFs were migrated to obtain depth sections of the lithosphere. These images are fairly consistent with previous seismic sections and velocity‐depth modeling. The WPT shows a clear northward‐dipping interface, interpreted as the Iberian lower crust underthrusting an European Moho identified at the northern end of the transect. In the CMT a similar pattern can be inferred, although the deep crustal geometry is not well resolved. In this transect, intra‐crustal convertors are associated to high‐velocity materials of European lower crust imbricated at shallower levels. The new results provide farther evidence on the lateral extent of the Alpine underthrusting of Iberia beneath Europe.
Rapid isolation, characterization, and glycan analysis of Cup a 1, the major all_ergen of Arizona cypress (Cupressus arizonica) pollen
Authors: Alisi C. , Afferni C. , Iacovacci P. , Barletta B. , Tinghino R. , Butteroni C. , Puggioni E. M. R. , Wilson I. B. H. , Federico R. , Schininà M. E. , Ariano R. , Di Felice G. , Pini C.
Published: June 2003

Background: A rapid method for the purification of the major 43‐kDa all_ergen of Cupressus arizonica pollen, Cup a 1, was developed.

Methods: The salient feature was a wash of the pollen in acidic buffer, followed by an extraction of the proteins and their purification by chromatography. Immunoblotting, ELISA, and lectin binding were tested on both the crude extract and the purified Cup a 1. Biochemical analyses were performed to assess the Cup a 1 isoelectric point, its partial amino‐acid sequence, and its glycan composition.

Results: Immunochemical analysis of Cup a 1 confirmed that the all_ergenic reactivity is maintained after the purification process. Partial amino‐acid sequencing indicated a high degree of homology between Cup a 1 and all_ergenic proteins from the Cupressaceae and Taxodiaceae families displaying a similar molecular mass. The purified protein shows one band with an isoelectric point of 5.2. Nineteen out of 33 sera (57%) from patients all_ergic to cypress demonstrated significant reactivity to purified Cup a 1. MALDI‐TOF mass spectrometry indicated the presence of three N‐linked oligosaccharide structures: GnGnXF3 (i.e., a horseradish peroxidase‐type oligosaccharide substituted with two nonreducing N‐acetylglucosamine residues), GGnXF3/GnGXF3 (i.e., GnGnXF with one nonreducing galactose residue), and (GF)GnXF3/Gn(GF)XF3 (with a Lewisa epitope on one arm) in the molar ratio 67:8:23.

Conclusions: The rapid purification process of Cup a 1 all_owed some fine studies on its properties and structure, as well as the evaluation of its IgE reactivity in native conditions. The similarities of amino‐acid sequences and some complex glycan stuctures could explain the high degree of cross‐reactivity among the Cupressaceae and Taxodiaceae families.
Neurological presentation of Ehlers–Danlos syndrome type IV in a family with parental mosaicism
Authors: Palmeri S , Mari F , Meloni I , Malandrini A , Ariani F , Villanova M , Pompilio A , Schwarze U , Byers PH , Renieri A
Published: June 2003

Ehlers–Danlos syndrome type IV (EDS‐IV) is an autosomal‐dominant disorder caused by a defect of type III collagen which leads to ruptures of arteries and hollow organs. Neurological presentation with muscle involvement and flexion contractures of the finger joints is uncommon. We clinically characterized seven members of a family with EDS‐IV. The index patient, a young woman with an acrogeric face, suffered chronic muscle pain and cramps, Achilles tendon retraction, finger flexion contractures and seizures. The mother had similar features and had experienced an ischemic stroke. Biochemical study in cultured fibroblasts and molecular analysis of the COL3A1 gene led to the diagnosis of EDS‐IV. A glycine substitution, p.G883V, within the triple helix of the α1(III) chain, was found in the index patient and in the mother. The maternal grandfather and an aunt each had an abdominal aoric aneurysm, the rupture of which was the cause of death in the latter, at 40 years of age. Surprisingly, we found the mutation, as a mosaic, in the asymptomatic maternal grandmother. This expands the clinical spectrum of EDS type IV and confirms that in some families mosaicism can be identified as the source of the mutation.
A novel dominant missense mutation – D179N – in the GJB2 gene (Connexin 26) associated with non‐syndromic hearing loss
Authors: Primignani P , Castorina P , Sironi F , Curcio C , Ambrosetti U , Coviello DA
Published: June 2003

Mutations of the GJB2 gene, encoding Connexin 26, are the most common cause of hereditary congenital hearing loss in many countries, and account for up to 50% of cases of autosomal‐recessive non‐syndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal‐dominant form of non‐syndromic deafness. We report on a family from southern Italy in whom dominant, non‐syndromic, post‐lingual hearing loss is associated with a novel missense mutation in the GJB2 gene. Direct sequencing of the gene showed a heterozygous G→A transition at nucleotide 535, resulting in an aspartic acid to asparagine amino acid substitution at codon 179 (D179N). This mutation occurred in the second extracellular domain (EC2), which would seem to be very important for connexon–connexon interaction.
Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis
Authors: Jawaheer D , Juo S‐HH , Le Caignec C , David A , Petit C , Gregersen P , Dowbak S , Damle A , McElreavey K , Ostrer H
Published: June 2003

46,XY gonadal dysgenesis was transmitted as an autosomal‐dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal males. The phenotypic features of this trait appeared to be confined to the genitourinary system. Multipoint parametric analysis using markers D5S664, D5S633, and D5D2102 yielded an LOD score of 4.47, assuming sex‐limited, autosomal‐dominant inheritance with a penetrance of 0.6. Because mutation in testis‐determining genes leads to gonadal dysgenesis in 46,XY individuals, we postulate that the gene mapped by this study normally plays a role in gonadal differentiation.
Overestimation of genetic risks owing to small sample sizes in cardiovascular studies
Authors: Morgan TM , Coffey CS , Krumholz HM
Published: June 2003

We sought evidence of publication bias to explain conflicting findings in studies of angiotensin‐converting enzyme deletion polymorphism (ACE D) and glycoprotein IIIa PlA2 (PLA2) polymorphism and the risk of myocardial infarction. Factor 5 Leiden (F5L), a well‐established thrombotic risk factor, served as an internal comparison. We conducted systematic reviews of published studies involving ACE D, PLA2, F5L and relevant outcomes, searching medline (January 1990 through February, 2001), bibliographies, and meta‐analyses. Random effects pooled odds ratios (95% confidence interval) for cardiovascular outcomes were as follows: PLA2 (n = 13,167 subjects): 1.13 (1.02, 1.26); ACE D (n = 42,140 subjects): 1.22 (1.11, 1.35); and F5L (n = 27,277 subjects): 4.43 (3.65, 5.38). However, funnel plots of ACE D and PLA2, but not F5L, showed an inverse relationship between sample size and odds ratios for ACE D (p = 0.02) and PLA2 (p = 0.04) but not F5L (p = 0.65) by Egger's test for potential publication bias. Despite research‐based genotyping of over 50,000 subjects, the overall risk for myocardial infarction as a result of PLA2 and ACE D remains doubtful. Our study provides a clear example of how publication of underpowered studies can spuriously implicate polymorphisms as genetic risk factors.
Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1‐related disorders
Authors: Park J‐H , Kim I‐J , Kang HC , Lee S‐H , Shin Y , Kim K‐H , Lim S‐B , Kang S‐B , Lee Ku , Kim SY , Lee M‐S , Lee M‐K , Park J‐H , Moon S‐D , Park J‐G
Published: June 2003

Multiple endocrine neoplasia type 1 (MEN1) is a familial cancer syndrome characterized by the combined occurrence of tumours of the parathyroid glands, pancreatic islet cells and anterior pituitary gland. Mutation analysis of the MEN1 gene has enabled the genetic diagnosis of patients with MEN1. Two MEN1‐related disorders – familial isolated hyperparathyroidism (FIHP) and familial pituitary adenoma – are considered to be variants of MEN1, or at least to be incompletely expressed variants. Germline mutations of the MEN1 gene have been reported in some with FIHP, but familial pituitary adenoma usually lacks the MEN1 mutation and has been described as a genetically distinct disorder. In this work, we investigated five Korean families with MEN1, one family with FIHP and one family with familial pituitary adenoma. Polymerase chain reaction (PCR)‐based single‐strand conformation polymorphism (PCR‐SSCP) analysis, denaturing high‐performance liquid chromatography (DHPLC) and sequencing were used to detect the MEN1 mutations. Screening of the genetic variations of the MEN1 gene revealed four germline mutations in five typical MEN1 families. All four germline mutations led to truncated proteins or a change in the amino acids of the functional domains. In this study, we identified three novel MEN1 germline mutations (969C >A, 973G >C and 1213C >T) and one previously reported mutation (200–201insAGCCC). The frequency of the MEN1 germline mutation in Korean MEN1 families (four of five; 80%) was similar to those reported previously. In accordance with previous studies, no MEN1 germline mutation was detected in two families with FIHP or familial pituitary adenoma.
Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000
Authors: Creighton S , Almqvist EW , MacGregor D , Fernandez B , Hogg H , Beis J , Welch JP , Riddell C , Lokkesmoe R , Khalifa M , MacKenzie J , Sajoo A , Farrell S , Robert F , Shugar A , Summers A , Meschino W , Allingham‐Hawkins D , Chiu T , Hunter A , Allanson J , Hare H , Schween J , Collins L , Sanders S , Greenberg C , Cardwell S , Lemire E , MacLeod P , Hayden MR
Published: June 2003

Predictive and pre‐natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation test for HD in 1993. Direct mutation analysis provided an accurate test that not only enhanced predictive and pre‐natal testing, but also permitted the diagnostic testing of symptomatic individuals. The objective of this study was to investigate the uptake, utilization, and outcome of predictive, pre‐natal and diagnostic testing in Canada from 1987 to April 1, 2000. A retrospective design was used; all Canadian medical genetics centres and their affiliated laboratories offering genetic testing for HD were invited to participate. A total of 15 of 22 centres (68.2%), currently offering or ever having offered genetic testing for HD, responded, providing data on test results, demographics, and clinical history. A total of 1061 predictive tests, 15 pre‐natal tests, and 626 diagnostic tests were performed. The uptake for predictive testing was approximately 18% of the estimated at‐risk Canadian population, ranging from 12.5% in the Maritimes to 20.7% in British Columbia. There appears to have been a decline in the rate of testing in recent years. Of the predictive tests, 45.0% of individuals were found to have an increased risk, and a preponderance of females (60.2%) sought testing. A greater proportion of those at ≤ 25% risk sought predictive testing once direct CAG mutation analysis had become available (10.9% after mutation analysis vs 4.7% before mutation analysis, p = 0.0077). Very few pre‐natal tests were requested. Of the 15 pre‐natal tests, 12 had an increased risk, resulting in termination of pregnancy in all but one. Diagnostic testing identified 68.5% of individuals to be positive by mutation analysis, while 31.5% of those with HD‐like symptoms were not found to have the HD mutation. The positive diagnostic tests included 24.5% of individuals with no known prior family history of HD.
Periurethral connective tissue status of postmenopausal women with genital prolapse with and without stress incontinence
Authors: Goepel Christian , Hefler Lukas , Methfessel Hans‐Dietrich , Koelbl Heinz
Published: June 2003

Objective.  Connective tissue consists mainly of collagen and structural glycoproteins and is considered an important factor of the supportive structures of the genitourinary region. Few data have been published as yet with respect to the role of connective tissue in pelvic floor relaxation and genuine stress incontinence (GSI). We compared periurethral connective tissue structures between continent and incontinent postmenopausal women with genital prolapse.

Methods.  Twenty‐nine women underwent pelvic floor reconstructive surgery (anterior colporrhaphy: n = 29, sacrospinous fixation: n = 12), with biopsies obtained from the periurethral region. Fifteen patients and 14 women were incontinent and continent, respectively. Tissue samples were investigated for localization and distribution of collagen (types I, III, IV, V, VI) and glycoproteins (fibronectin, laminin, vitronectin) using immunofluorescent microscopic techniques.

Results.  Collagen types I, III, IV, V, and VI were found in all tissue samples. Compared with the continent women, the tissue samples of the incontinent women showed a significantly weaker immunohistochemical staining of type I, III, and VI collagen. No difference in staining patterns of collagen type IV and V, fibronectin, and laminin was observed between the two groups. Intact vitronectin was found in the periurethral tissues of all the continent women, whereas this glycoprotein was either absent or fragmented in the incontinent women.

Conclusions.  Our results indicate an altered metabolism of connective tissue in the periurethral region with a significant decrease of collagen and vitronectin expression in postmenopausal women with pelvic floor relaxation with and without GSI.
Differential expression of T‐helper cytokines in the peritoneal fluid of women with normal ovarian cycle compared with women with chronic anovulation
Authors: Omu Alexander E. , Al‐Azemi Majedah K. , Makhseed Ma'asoumah , Al‐Oattan Fawzia , Ismail Amal A. , Al‐Tahir Sami , Al‐Busiri Nasser
Published: June 2003

Background.  Estrogen and progesterone immunoregulate the genital environment by expression of cytokines and growth factors.

Objective.  To investigate the pattern of expression of T‐helper cytokines during the ovarian cycle compared with women with chronic anovulation resistant to clomiphene citrate.

Hypothesis.  Expression of T‐helper cytokines in women with chronic anovulation may be different from the pattern in women with a normal ovarian cycle.

Methods.  We evaluated 31 infertile women having laparoscopy for evaluation of tubal patency and evidence of ovulation in two groups during (a) the luteal phase (17 women) and (b) the follicular phase (14 women). A third group was composed of 14 women with polycystic ovarian syndrome, but they were resistant to clomiphene citrate for induction of ovulation and had laparoscopic ovarian cautery. Peritoneal fluid was collected during laproscopy. Estimation of T‐helper cytokine interleukin (IL)‐2, tumor necrosis factor (TNF)‐α, IL‐4 and IL‐6 in serum, peritoneal fluid and culture of the peritoneal mononuclear cells was performed by ELISA. Serum luteinizing hormone (LH), follicle stimulating hormone (FSH), prolactin, estradiol and progesterone were evaluated by the Vidas Parametric System.

Results.  The LH : FSH ratio was significantly higher in the women with polycystic ovaries than in the ovulatory groups. IL‐2 and IFN‐γ were more highly expressed in the follicular phase but the T‐helper 2 cytokines IL‐4 and IL‐6 predominated in the luteal phase, serum, peritoneal fluid and culture of the peritoneal mononuclear cells. From the follicular to the mid‐luteal phase, IL‐6 increased three to fivefold in the serum and peritoneal fluid, but there was low expression with anovulation.

Conclusions.  The peritoneal fluid levels of IL‐4 and IL‐6 are higher in the luteal phase. Low IL‐6 levels in chronic anovulation may be a marker of resistance to clomiphene citrate.
Serum levels of macrophage colony‐stimulating factor after cesarean section, vaginal delivery, or laparotomy in normal pregnant women and gynecologic patients
Authors: Hayashi Masatoshi , Shibazaki Mitsuei , Sohma Ryoichi , Ohkura Takeyoshi , Inaba Noriyuki
Published: June 2003

Background.  Macrophage colony‐stimulating factor (M‐CSF) is located in villous cells lining the vessels in the placenta in the third trimester and has been implicated in placental growth and development. Macrophage colony‐stimulating factor levels in peripheral blood increased significantly with progression of pregnancy in uncomplicated pregnancies. The serum levels of M‐CSF appear to be altered after laparotomy in normal pregnant women and nonpregnant gynecologic patients. Thus, the present study examined changes in serum levels of M‐CSF before and after laparotomy and compared these findings between the two groups. Macrophage colony‐stimulating factor levels before and after vaginal delivery were also examined.

Methods.  Peripheral blood was collected before, 1 day, and 10 days after laparotomy or vaginal delivery from 38 subjects, of whom 14 were normal pregnant women who underwent cesarean section (group 1), 12 were gynecologic patients (group 2), and 12 were normal pregnant women who delivered vaginally (group 3). The M‐CSF level was determined by the sandwich ELISA method using three antibodies.

Results.  In all groups, the serum levels of M‐CSF increased significantly 1 day after laparotomy or vaginal delivery, but then decreased significantly after 10 days. The net increase 1 day after laparotomy was significantly lower in group 1 than in group 2. Before and 1 day after laparotomy, the M‐CSF levels were significantly higher in group 1 than in group 2, but not 10 days after laparotomy. Changes in M‐CSF levels in group 3 were relatively similar to those in group 1.

Conclusions.  Serum levels of M‐CSF were significantly higher in groups 1 and 3 than in group 2, before laparotomy or vaginal delivery. The M‐CSF level increased moderately 1 day after cesarean or vaginal delivery, and it increased remarkably after gynecologic laparotomy. The increases in M‐CSF levels postlaparotomy may occur via different mechanisms between groups 1 and 2. Placental removal and termination of pregnancy might contribute to the decrease in M‐CSF levels, leading to only a moderate increase in M‐CSF levels 1 day after laparotomy in group 1.
Failed individual and sequential instrumental vaginal delivery: contributing risk factors and maternal–neonatal complications
Authors: Al‐Kadri Hanan , Sabr Yasser , Al‐Saif Saif , Abulaimoun Bdair , Ba’Aqeel Hassan , Saleh Ahmed
Published: June 2003

Background.  To identify the risk factors for failed instrumental vaginal delivery, and to compare maternal and neonatal morbidity associated with failed individual and sequential instruments used.

Design.  A retrospective case‐control study.

Methods.  From January 1995 to June 2001, there were 39 508 live births at >37 weeks' gestation of which 2628 (6.7%) instrumental vaginal deliveries were performed, 1723 (4.4%) were vacuum extractions and 905 (2.3%) were forceps. A total of 155/2628 (5.9%) patients who had failed instrumental delivery were matched with 204 patients who had successful instrumental delivery. The patients were divided into five groups. Group I (n = 129) had failed vacuum extraction, group II (n = 13) failed forceps, group III (n = 13) failed both (i.e. failed attempt at both instruments sequentially), group IV (n = 138) had successful vacuum extraction and group V (n = 66) successful forceps.

Results.  The failure rate for vacuum extractions 129/1723 (7.5%) was significantly higher than that for forceps 13/905 (1.4%) [odds ratio (OR) = 5.6, 95% CI 3–10.3]. There were no significant differences in all maternal complications (25.5% vs. 26.6%) between vacuum (groups I and IV) and forceps (groups II and V) assisted deliveries. There were more maternal complications in group III (46.2%) than in groups I (35.7%), II (23.1%) and V (27.3%) that did not reach statistical significance but were significantly higher than in group IV (15.9%, OR = 4.5, 95% CI 1.2–16.9). There was a significantly higher rate of all fetal complications in group III [11/13 (84.6%)] than in groups I [69/129 (53.5%)], II [7/13 (53.8%)], IV [35/138 (25.4%)] and V [22/66 (33.3%)] (OR = 4.8, 95% CI 0.9–19.9).

Conclusions.  Applying the instrument at ≤0 fetal station, nulliparous women, history of previous cesarean section and fetal head other than occipitoanterior position were risk factors for failed instrumental delivery. Sequential use of instrumental delivery carries a significantly higher neonatal morbidity than when a single instrument is used.
Tension‐free vaginal tape and laparoscopic mesh colposuspension in the treatment of stress urinary incontinence: immediate outcome and complications − a randomized clinical trial
Authors: Valpas Antti , Kivelä Aarre , Penttinen Jorma , Kauko Minna , Kujansuu Erkki , Tomas Eija , Haarala Mervi , Meltomaa Seija , Nilsson Carl‐Kustav
Published: June 2003

Background. The purpose of the study was to evaluate the immediate outcome and complications of the tension‐free vaginal tape (TVT) and laparoscopic mesh colposuspension (LC) procedures in the treatment of female stress urinary incontinence (SUI).

Methods. One hundred and twenty‐eight patients suffering from urodynamically confirmed SUI were recruited to this multicenter, randomized clinical trial. After randomization there were seven drop‐outs – 121 patients were operated upon: 70 patients in the TVT group and 51 in the LC group. The patients were evaluated according to the study protocol before operation and 6 weeks after it. The independent sample t‐test and the Mann–Whitney U‐test were used to calculate statistical differences between the study groups.

Results. Immediate cure rates, defined as negative stress test with 300 mL saline in the bladder, were similar (92.9% in the TVT group and 88.2% in the LC group; p = ns). Return to normal voiding was faster in the TVT group (9.2 h in the TVT group vs. 24.4 h in the LC group; p = 0.004). Fewer analgesics were used in the TVT group and hospital stay was shorter in this group. Complication rates associated with the procedures were similar and the number of complications was small.

Conclusions. The immediate outcome of both procedures is the same. The rates of complications were similar. However, the TVT procedure seems to be less invasive and requires fever hospital resources than LC.
Serum nitric oxide metabolites and E‐selectin in preterm premature rupture of membranes
Authors: Loukovaara Mikko , Ylikorkala Olavi
Published: June 2003

Background.  Diseases with low‐grade inflammation perturb endothelial function. We investigated whether preterm premature rupture of membranes (PPROM) is associated with endothelial dysfunction, as assessed by the levels of endothelium‐derived nitric oxide metabolites (NOx) and E‐selectin in maternal serum.

Methods.  The concentrations of NOx and E‐selectin were measured in 32 pregnant women with PPROM and in 27 healthy gestational age‐matched control women. The grade of inflammation was estimated by measuring serum C‐reactive protein (CRP) and interleukin‐6 (IL‐6) concentrations.

Results.  NOx and E‐selectin concentrations were not different in PPROM patients as compared to controls. In 17 patients with PPROM, CRP rose above 12 mg/L. In this group, IL‐6 concentration was significantly higher than among controls, but concentrations of NOx and E‐selectin remained unaltered. There was a negative correlation between the levels of NOx, CRP and IL‐6 and the interval from PPROM to delivery. The levels of NOx correlated positively with those of IL‐6.

Conclusions.  PPROM, with or without CRP and IL‐6 surges, does not affect endothelial function markedly, as judged from the unaltered concentrations of NOx and E‐selectin in maternal serum.
Iron supplementation during pregnancy in Sweden: to what extent is the national recommendation followed?
Authors: Wulff Marianne , Ekström Eva‐Charlotte
Published: June 2003

Background.  While there has been a worldwide trend to reduce the recommended amount of iron in prenatal supplements, this has still not been implemented in Sweden. It is likely that the current national recommendation of 100 mg of iron/day to all pregnant women provides a larger amount of iron than warranted and results in increased occurrence of side‐effects and reduced compliance. This may also reduce midwives' motivation to implement the recommendation. The aim of this study was to assess adherence to the current recommendation and to describe factors associated with prescription and use of iron supplements.

Methods.  A questionnaire capturing determinants for and use of prenatal iron supplementation was distributed to newly delivered women and midwives in five regions of Sweden. In addition, an inquiry about implementation of the recommendation was sent to all senior obstetricians in charge of antenatal care.

Results.  Most (79%) of the senior obstetricians indicated adherence to the national recommendation. A lower percentage of midwives (41%) and a further lower proportion of pregnant women (28%) did so. Despite limited compliance to the recommendation, the majority of pregnant women had used some type of iron‐containing supplement. Side‐effects of supplements, perceived need and advice from midwives influenced their use. Many midwives preferred and practiced a selective supplementation strategy.

Conclusions.  The current recommendation is not practiced. Side‐effects and perceptions that the amount of iron is larger than necessary contribute to its limited use. A revision is needed to address the amount of iron required and strategies to ensure good adherence.
Expectant management of first‐trimester miscarriage in clinical practice
Authors: Blohm Febe , Fridén Barbro , Platz‐Christensen Jens‐Jörgen , Milsom Ian , Nielsen Sven
Published: June 2003

Background.  The aim of this study was to evaluate treatment efficacy and patient compliance in women with an early miscarriage managed expectantly in routine clinical practice.

Methods.  During 1995–98, 263 consecutive women who sought medical attention for an ongoing or incomplete miscarriage (gestational length <99 days), and who were circulatory stable and had a gestational residue measuring 15–50 mm (anterio–posterior, A–P diameter) on ultrasound examination were invited to participate in this study. Hemoglobin (Hb), C‐reactive protein (CRP), human chorionic gonadotrophin (hCG), progesterone and Rh‐factor were analyzed and a questionnaire regarding the pregnancy, duration of genital bleeding and number of days of absenteeism was completed on admission and after 1 and 4 weeks.

Results.  Expectant management was considered to be complete (vaginal ultrasound, gestational residue <15 mm after 1 week) in 83%. The patients who were managed successfully by expectant management had a smaller gestational residue (p = 0.026) and a lower mean serum progesterone level (p = 0.025) on referral than in the group of women with failed expectant management. A gynecologic infection was diagnosed in seven cases (3%) and five of the infections were in the group of women who underwent dilatation and curettage. No patient required a blood transfusion. The mean number of days of absenteeism was 3.2 days. There were no differences in Hb levels before or after treatment, number of bleeding days or absenteeism between the groups.

Conclusions.  Expectant management of clinically stable patients with symptoms of early miscarriage is safe, efficient and well tolerated.
Repeated courses of antenatal corticosteroids: Is it justified?
Authors: Leung Tse N. , Lam Po M. , Ng Pak C. , Lau Tze K.
Published: June 2003

The benefits of a single course of antenatal corticosteroids on neonatal outcomes are well established. There is, however, much controversy about how long this treatment should continue, and whether repeated courses should be administered if the women remain at risk for preterm delivery 7 days after the initial therapy. This review aims to discuss current evidence on the effectiveness and safety of repeated courses of antenatal corticosteroids.
Choice of antibiotics for infection prophylaxis in emergency cesarean sections in low‐income countries: A cost‐benefit study in Mozambique
Authors: Kayihura Vicente , Osman Nafissa Bique , Bugalho Antonio , Bergström Staffan
Published: June 2003

Background.  There is a need to assess the cost‐benefit of different models of antibiotic administration for the prevention of post cesarean infection, particularly in resource‐scarce settings.

Design.  Randomized, nonblinded comparative study of a single combined preoperative dose of gentamicin and metronidazole vs. a post cesarean scheme for infection prophylaxis.

Methods.  Pregnant women (n = 288) with indication for emergency cesarean section were randomly allotted to two groups. Group 1 (n = 143) received the single, combined dose of prophylactic antibiotics and group 2 (n = 145) received, over 7 days, the postoperative standard scheme of antibiotics followed in the department. Both groups were followed up during 7 days for detection of signs of wound infection, endometritis, peritonitis and urinary tract infection.

Main outcome measures.  Prevalence of postoperative infection, mean hospital stay and costs of antibiotics used.

Results.  Women completing the study (n = 241) were distributed into group 1 (n = 116) and group 2 (n = 125). No significant difference was found neither in the prevalence of postoperative infection nor in the mean hospital stay. No death occurred. The cost of the single dose of prophylactic antibiotics was less than one‐tenth of the cost of the standard postoperative scheme.

Conclusion.  In our setting, the administration of a single dose of 160 mg of gentamicin in combination with 500 mg of metronidazole before emergency cesarean section for prevention of infection is clinically equivalent to existing conventional week‐long postoperative therap, but at approximately one‐tenth of the cost.