Chromosomal Rearrangements in Three Infertile Men

Summary:  Three chromosomal rearrangements: a balanced reciprocal translocation, t(14;10) (q22;q13), a Y-autosome translocation, t(Y;16) (q11;p13) and a deleted Y chromosome, Yq- were detected among 100 infertile men. The autosomal translocation, associated with oligozoospermia was found to be familial with various effects on the female carriers and the proband's father. The patients with the chromosome Y abberations were found to be azoospermic and might have lost the genes necessary for normal sperma-togenesis.
Zusammenfassung:  Unter 100 infertilen Männern wurden drei Chromosomenneuan-ordnungen entdeckt: eine balancierte reziproke Translokation, t(14;10) (q22;q13), eine Y-autosome Translokation, t(Y;16) (q11;p13) und eine Deletion des Y-Chromosoms, Yq-. Die autosomale Translokation bei Oligozoospermie zeigte sich familiär mit verschiedenen Auswirkungen bei den weiblichen Überträgern und dem Vater des Probanden. Die Patien-ten mit chromosomalen Y-Aberrational wiesen eine Azoospermie auf und scheinen die zur normalen Spermatogenese notwendigen Gene verloren zu haben.     

Bone growth patterns in Chinese children and adolescents: a 6-year follow-up study provides evidence for sexual dimorphism and tracking

Summary We prospectively examined bone growth patterns in 894 children aged 6–17 years at the baseline visit, with a 6-year follow-up. Results show bone “tracking” over a six-year interval and sexual dimorphism of bone attained levels and timing of peak bone growth. Our findings underscore childhood and adolescence as critical periods for building bone and developing gender differences. Introduction Bone growth patterns were prospectively examined in 894 Chinese children (496 males), aged 6–17 yrs, from a population-based twin cohort. Whole-body bone area (BA), bone mineral content (BMC), and bone mineral density (BMD) were measured by DEXA at baseline and a 6-yr follow-up. Methods Graphic smoothing plots and generalized estimating equations were used to model bone attained levels, growth, and “tracking”. Results Attained levels of BMC and BA increased curvilinearly with age. Male attained levels were higher than females after age ∼15 yr, but BMD was lower between 13–17 yrs (Tanner stage I to IV). In both genders, peak BMC and BMD growth lagged ∼2 yrs behind peak BA growth, which lagged 2 yrs behind peak height growth. Peak bone growth occurred 1–3 yrs later in males. Over the 6-yr follow-up, all bone measurements “tracked”, but “shifting” across ranks also occurred, and baseline tertile ranking influenced bone growth. Females with early menarche had higher attained levels than females with late menarche at age 12–13 yrs. Conclusion Our findings confirm and expand previous studies on peak bone growth conducted in Caucasian cohorts, particularly sexually dimorphic and maturational effects. The significant “tracking” of bone measurements in this 6-yr follow-up study underscores the importance that osteoporosis prevention should begin in childhood and adolescence. Fengxiu Ouyang and Binyan Wang contributed equally to this article. Source(s) of support: This study is supported in part by grant R01 HD049059, R01 HL0864619 and R01 AR045651 from the National Institute of Health and by the Food Allergy Project.     

Empirical testing of estimated DNA frequencies

Direct empirical testing of forensic DNA micro-probabilities has proved difficult. Substantial support for the population genetic models on which these micro-probabilities are based has come from powerful but indirect means. However for many people empirical testing rather than models remains the ideal.Following the example set by Weir and Evett we report here a large-scale empirical test of a population genetic model incorporating substructure and relatedness. Given that all models represent simplifications of reality the fit of observed and prediction is remarkable and gives substantial support to the reliability of current methods.     

Transgenic mice expressing constitutive active MAPKAPK5 display gender-dependent differences in exploration and activity

Background  

The mitogen-activated protein kinases, MAPKs for short, constitute cascades of signalling pathways involved in the regulation of several cellular processes that include cell proliferation, differentiation and motility. They also intervene in neurological processes like fear conditioning and memory. Since little remains known about the MAPK-Activated Protein Kinase, MAPKAPK5, we constructed the first MAPKAPK knockin mouse model, using a constitutive active variant of MAPKAPK5 and analyzed the resulting mice for changes in anxiety-related behaviour.     

Fluoroscopic percutaneous lumbar zygapophyseal joint cyst rupture: a clinical outcome study

Background contextLumbar zygapophyseal joint (Z-joint) synovial cysts can cause low back pain (LBP), spinal stenosis, and lower extremity radiculopathy. In the literature, there are several minimally invasive techniques described with mixed results. Typical recommended treatment is surgical resection of the cyst. Currently, there is little information available concerning the efficacy and outcome with treatment of Z-joint synovial cyst by percutaneous, fluoroscopic, contrast-enhanced distention, and rupture.PurposeTo evaluate the therapeutic value and safety of Z-joint cyst rupture in symptomatic patients.Study design/settingRetrospective cohort study in an academic outpatient physiatric spine practice.Patient sampleThirty-two patients with moderate-to-severe LBP and leg pain (18 women and 14 men with an age range of 46–86 y; mean age, 66 y) with an average preprocedure symptom duration of 5 months. The patient's clinical symptoms correlated with magnetic resonance imaging studies documenting the presence of a synovial cyst at the corresponding level and side of symptoms. Patients had at least 6 months follow-up (range, 6–24).Outcome measuresNumerical Pain Rating Scale, Roland-Morris Disability Questionnaire, North American Spine Society four-point patient satisfaction survey, recurrence of synovial cyst requiring repeat rupture, and need for surgical intervention.MethodsPatients with symptomatic lumbar Z-joint synovial cyst were identified and their charts were reviewed. Patients included in the study either had symptomatic lumbar LBP or LBP with associated lower extremity radiculopathy. All patients in the study had magnetic resonance imaging's documenting Z-joint synovial cyst that corresponded with the patients' clinical symptoms. All patients received fluoroscopically guided, contrast-enhanced, percutaneous facet cyst distention and rupture followed by an intra-articular facet joint injection of 1 cc kenalog and 1 cc of 1% lidocaine. Seventeen of the patients also received a transforaminal epidural steroid injection just before facet cyst rupture. Telephone follow-up was conducted on all patients.ResultsExcellent long-term (average follow-up 1 y; range, 6–24 mo) pain relief was achieved in 23 (72%) of 32 patients undergoing facet cyst rupture. Twelve patients (37.5%) had synovial cyst recurrence and 11 chose to undergo repeat rupture, which resulted in 5 patients (45%) obtaining complete relief of symptoms and 6 patients (55%) requiring surgical intervention for cyst removal. Fisher exact test demonstrated that all patients who did not have a cyst recurrence were a success and obtained complete relief of symptoms (p<.0002). Patients who underwent a repeat rupture had a 50% chance of a successful outcome. There was no statistical significance between a successful outcome and level of facet cyst rupture, the presence of spondylolisthesis, sex, age, or having a transforaminal epidural steroid injection at the time of the procedure. Wilcoxon signed-rank test demonstrated that the difference in Numerical Pain Rating Scale and Roland-Morris Disability Questionnaire scores before and after the procedure was statistically significant (p<.0001). No complications were reported.ConclusionsFluoroscopic percutaneous Z-joint cyst rupture appears to be a safe and effective minimally invasive treatment option. This procedure should be considered before surgical intervention.     

Lung Cancer and COPD: a Common Combination

Background and objectiveTo analyse frequency, characteristics and patient survival with lung cancer (LC) and Common Obstructive Pulmonary Disease (COPD), comparing them with patients that do not have COPD.Material and methodsA retrospective study, of patients diagnosed by means of cytohistology. Survival was estimated by the Kaplan-Meier method. Statistical analysis was carried out using SPSS 15.0.ResultsA total of 996 patients were diagnosed, 39.8% with COPD. Mean age70±9.19 years. GOLD stages: I 18.2%, II 53.6%, III 24%, IV 4.2%. The histological types: squamous cell carcinoma 48.2%, adenocarcinoma 22%, and small cell carcinoma 22.5%. Survival was longer in the COPD group.ConclusionsLC and COPD are combined in 39.8%. Squamous cell type is more frequent and survival was longer in the COPD group.