Plantar flexor muscles asymmetry and their lower strength is maybe related to development of low back pain during prolonged standing

Purpose: Research has shown that there are some risk factors for creating and developing low back pain with prolonged standing. For attempt to recognition of predisposing factors to development of LBP during prolonged standing, the purpose of this study was to investigate to maximal voluntary contraction (MVC) at selected groups of muscles and some of the psychological aspects in back-healthy subjects who developed LBP during prolonged standing.Methods: In this cross sectional study, 25 back-healthy subjects and 14 chronic nonspecific LBP completed anxiety inventory (STAI), Tampa Scale for kinesiophobia (TSK) and pain catastrophizing scale (PCS) questionnaires. Dynamometer was used to assess MVC of the selected groups of muscles. Finally back-healthy subjects get tested for 2 h prolonged standing protocol and based on a visual analog scale (VAS) were categorized as pain developers (PD) or non-pain developers (NPD).Results: Ten subjects (% 40) with developing pain were categorized as PD. There were no significant difference at psychological aspects between three groups of PD, NPD and LBP had. But analysis of MVC showed PD and LBP groups had less MVC at the left plantar flexors than left plantar flexors of the NPD group. Also PD and LBP groups had significantly more between two sides asymmetry at MVC at the plantar flexors compared to  NPD group.Conclusion: This preliminary data suggests less MVC and asymmetry of MVC at plantar flexor muscles maybe related to development of the LBP during prolonged standing in the back-healthy peoples. Future study is needed to investigate other function of plantar flexors and their probably relations to development of LBP during prolonged standing

A novel deletion mutation in ASPM gene in an Iranian family with autosomal recessive primary microcephaly

How to Cite This Article: Akbarizar E, Ebrahimpour M, Akbari S, Arzhanghi S, Abedini SS, Najmabadi H, Kahrizi K. A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly. Iran J Child Neurol.  2013 Spring;7(2):23-30. ObjectiveAutosomal recessive primary microcephaly (MCPH) is a neurodevelopmental and genetically heterogeneous disorder with decreased head circumference due to the abnormality in fetal brain growth. To date, nine loci and nine genes responsible for the situation have been identified. Mutations in the ASPM gene (MCPH5) is the most common cause of MCPH. The ASPM gene with 28 exons is essential for normal mitotic spindle function in embryonic neuroblasts.Materials & MethodsWe have ascertained twenty-two consanguineous families withintellectual disability and different ethnic backgrounds from Iran. Ten out of twenty-two families showed primary microcephaly in clinical examination. We investigated MCPH5 locus using homozygosity mapping by microsatellite marker. ResultSequence analysis of exon 8 revealed a deletion of nucleotide (T) in donor site of splicing site of ASPM in one family. The remaining nine families were not linked to any of the known loci. More investigation will be needed to detect the causative defect in these families.ConlusionWe detected a novel mutation in the donor splicing site of exon 8 of the ASPM gene. This deletion mutation can alter the ASPM transcript leading to functional impairment of the gene product. References1. Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, et al. A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31. Am J Hum Genet 2000;67(6):1578-80.2. Darvish H, Esmaeeli-Nieh S, Monajemi G, Mohseni M, Ghasemi-Firouzabadi S, Abedini S, et al. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics 2010;47(12):823-8.3. Tolmie JL, M M, JB S, D D, JM C. Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am JMed Genet 1987;27583-94.4. Cowie V. The genetics and sub-classification of microcephaly. J Ment Defic Res 1960;4:42-7. 5. Woods C. Human microcephaly. Curr Opin Neurobiol 2004;14(1):112-7.6. Kaindl AM PS, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A MS,et al.Many roads lead to primary autosomal recessive microcephaly. Prog Neurobiol 2010;90:363-83.7. Kumar A BS, Babu M, Markandaya M, Girimaji SC. Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. Clin Genet 2004;66:341-8.8. Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. The American Journal of Human Genetics 2002;71(1):136-42.9. Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13. 1-13.2. European journal of human genetics: EJHG  1999;7(7):815.10. Kousar R, Hassan MJ, Khan B, Basit S, Mahmood S, Mir A, et al. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC neurology 2011;11(1):119.11. Evans PD, Vallender EJ, Lahn BT. Molecular evolutionof the brain size regulator genes<i> CDK5RAP2</i>and<i> CENPJ</i>. Gene 2006;375:75-9.12. Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA research 2001;8(2):85-95. 13. Jamieson CR GC, Abramowicz MJ. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 1999;65:1465-9.14. Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, et al. Kinetochore KMN network gene CASC5 mutated in Primary Microcephaly. Human molecular genetics 2012.15. Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, et al. ASPM is a major determinant of cerebral cortical size. Nature genetics 2002;32(2):316-20.16. Fish JL, Kosodo Y, Enard W, Pääbo S, Huttner WB. Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells. Proceedings of the National Academy of Sciences 2006;103(27):10438-43.17. Leal G, Roberts E, Silva E, Costa S, Hampshire D, Woods C. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. Journal of Medical Genetics 2003;40(7):540-2.18. Kumar A. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. The American Journal of Human Genetics 2009;84(2):286-90.19. Hussain MS, Baig SM, Neumann S, Nurnberg G, Farooq M, Ahmad I, et al. Atruncating mutation on CEP135 causes primary microcephaly and disturbed centrosomal function.AMJ,HumGenet 2012;90:871-8.20. Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, et al. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. The American Journal of Human Genetics 2010;87(1):40-51.21. Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, et al. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene. Neurogenetics 2006;7(2):105-10.22. Roberts E, Hampshire D, Springell K, Pattison L, Y C, Jafri H, et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002;39:718–721.23. Woods CG BJ, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 2005 May;76(5):717-28.24. Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki JI, et al. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Human Molecular Genetics 2005;14(15):2155-65.25. Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, et al. Protein-Truncating Mutations in< i> ASPM</i> Cause Variable Reduction in Brain Size. The American Journal of Human Genetics 2003;73(5):1170-7.26. Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. European journal of Human Genetics 2004;12(5):419-21.27. Garshasbi.M, Motazacker M, Kahrizi K, Behjati F, Abedini S, Nieh S, et al. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006 Feb;118(6):708-15.28. Jackson A, McHale D, Campbell D, Jafri H, Rashid Y, Mannan J, et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998 Aug;63(2):541-6.29. Moynihan L, Jackson A, Roberts E, Karbani G, Lewis I, Corry P, et al. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000 Feb;66(2):724-7.30. Bond J, Roberts E, Springell K, Lizarraga S, Scott S, Higgins J, et al. A centrosomalmechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet.2005 Apr;37(4):353-5. Nat Genet 2005 Apr;37(4):353-5.31. Jamieson C, Govaerts C, Abramowicz M, J. Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet. 1999;65:1465-9

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

Mutations in GJB2 , encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a novel mutation in GJB2 (p.Asp46Asn). Both families were ascertained from the same village in northern Iran consistent with a founder effect. This finding implicates the D46N missense mutation in Cx26 as a common cause of deafness in this part of Iran mandating mutation screening of GJB2 for D46N in all persons with hearing loss who originate from this geographic region. © 2011 Wiley-Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/83755/1/33209_ftp.pd

Comparing Knee Joint Position Sense in Patellofemoral Pain and Healthy Futsal Women

Background: Proprioception, or joint position sense, probably plays an important role in joint function. A number of studies have shown that proper joint position sense can decrease the risk of injuries in sports. It is not very clear how patellofemoral pain syndrome (PFPS) can affect athletes joint position sense (JPS). Regarding the importance of proper joint position sense for movement performance and injury prevention in athletes, the aim of this study was to evaluate knee JPS in athletes with PFPS and compare it with asymptomatic individuals under non-weight bearing (sitting) conditions. Methods: The study design was comparative in which 15 patients and 15 healthy athletes participated. JPS was evaluated by active and passive replication of knee angles for 30, 45 and 60° of knee flexion target angle while visual cues were eliminated. Each test was repeated three times. By subtracting the test angle from the replicated angle, the absolute error was calculated as a dependent variable. T-statistical test was used to compare data between two groups and P value of 0.05 was considered as the level of statistical significance. Results: No significant difference (P<0.05) in active (A) and passive (P) knee JPS was found between two groups for three (30°, p-value (A =0.79, P=0.68), 45°, P value (A=0.12, P=0.54) and 60°, P value (A=0.74, P=0.71)) target angles. Conclusion: According to results, both groups had the same JPS ability, it seems PFPS does not affect the knee JPS at least in athlete cases. It would be possible that deficiency of JPS compensated for the physical activity or on the other hand, maybe pain intensity was not high enough to interfere with JPS accuracy. According to our results, PFPS doesn’t reduce IPS but further investigation is needed to disclose if other factors such as skill level, intensity of pain or joint pathology are effective on JPS accuracy or not

Comarison between Three Common Remedial Exercises in Pain Severity of Patients with Mechanical CLBP

Objective: The aim of this study was to determine the efficacy of three common remedial exercises and then compare them in severity of pain and disability in patients with chronic low back pain. Materials & Methods: 25 patients with same as level of physical activity and history of mechanical low back pain during 6-12 months ago invited to participate to this clinical trial. After routine physical exam, severity of pain and disability due to low back pain was evaluated with visual analog scale (VAS) and Oswestry Questionnaire (OSWQ) respectively. Patients distribute to three subgroups (stabilization exercise=10pateints, Williams exercise=8patients, McKenzie exercise=7patients). Means difference of pain score and OSWQ (disability index) in all groups wasn't significant. Patients had done exercises according to name of their group during 12 weeks. At first all groups performed a complete set of exercises every day in 6 weeks. Then second 6 weeks exercises had done every other day (3 days per week). After testing the repeat ability of the parameters, reassessment of parameters was performed at the end of every 3 weeks. Data analysis was done with SPSS software. Friedman and Willcoxon tests were used for determination and analysis of data in three groups and then Kruskal-Wallis test and Mann-Whitney was done for determination of differences between three groups. Results: Data showed that all exercise regimens can decrease pain and disability index (P<0.000l). Though decrease of pain and OSWQ in stabilization group was faster than the other groups (P<0.05). Conclusion: All exercise regimens due to their strengthening properties and special affects on muscles and joints of lumbopelvic region can decrease severity of pain even acute pain. But according to the effect of pain chronocity to surrounding tissues and receptors of lumbopelvic region and also central effect of pain (reorganization of motor cortex), which exercise can more effect than the other to this parameters that can more and more affect the surrounding tissues and receptors of lumbopelvic region so in the long time stabilization exercise according to activate inhibited local stabilizing muscles and then global muscle in stable position and unstable position can more effective than the other exercise regimens

Comparison of External Load Effect on Lumbar Lordosis Among between Low Back Pain Patients and Healthy Individuals

Objective: Lumbar curvature is an important factor in posture and body movement that help us to understand low back pain problems. The aim of this study was evaluation of external load and trunk posture effect on lumbar curvature under static condition.  Materials & Methods: This study is an interventional, quasi-experimental and case-control study. Ten women with non specific chronic low back pain and ten matched without low back pain women were participated in this study. We used simple and non random method for sampling. Two clinometers sensors were used to evaluate lumbar curvature. Six static tasks while holding three levels of load (0, 6, 12 Kg) and two levels of trunk position (neutral and 30 degree of flexion) were simulated for subjects. Data were analyzed by using Kolmogroff-Smirnoff, ANOVA (Repeated Measurement) and independent T-test. Results: Findings revealed lumbar lordosis in patients with low back pain does not change to kyphosis while increasing external load from 0kg to 6kg and 12kg in neutral trunk position (P<0.05). Conclusion: Dysfunction in passive system due to soft tissue disorder, afraid of pain, changes trunk muscles recruitment and reduction of moment arm are likely reasons for increased lumbar lordosis in patients with low back pain during loading

تأثير تمرين کوتاه‌مدت همراه با ويبراسيون کل بدن بر فعاليت الکتروميوگرافي عضلات سولئوس و گاستروکنميوس در زنان جوان سالم

مقدمه: اثرات ويبراسيون کل بدن (Whole body vibration یا WBV) بر پاسخ الکترومايوگرافي عضلات بررسي شده است، اما پاسخ عضلات کند و تند انقباض پس از اعمال WBV مشخص نيست. هدف از اين مطالعه، بررسي اثر تمرين کوتاه‌مدت همراه با WBV بر فعاليت الکتريکي عضلات سولئوس و گاستروکنميوس به عنوان عضلات کند و تند انقباض بود. مواد و روش‌ها: دوازده زن سالم جوان غير ورزشکار (سن، 2/71 ± 25/66 سال؛ قد، 5/6 ± 161 سانتي‌متر؛ وزن، 5/42 ± 66/5 کيلوگرم) به صورت تصادفي در دو گروه درمان‌نما (Sham) (6 = n) و WBV (6 = n) قرار گرفتند. قبل و بعد از 12 جلسه تمرين، دامنه فعاليت الکترومايوگرافي (Root mean square یا RMS) حين حداکثر انقباض ايزومتريک ارادي عضلات سولئوس و گاستروکنميوس ثبت شد. تمرين شامل حفظ وضعيت سمي اسکوات ايزومتريک بود که در گروه درمان‌نما روي دستگاه WBV خاموش و در گروه WBV روي دستگاه WBV روشن (فرکانس ويبراسيون 30 هرتز و دامنه قله به قله جابجايي صفحه ويبراسيون 3 ميلي‌متر) انجام گرفت. یافته‌ها: فعاليت الکتريکي عضلات سولئوس و گاستروکنميوس قبل از شروع تمرينات در دو گروه يکسان بود (0/05 < P). دوازده جلسه تمرين تغيير معني‌دار آماري در RMS عضلات سولئوس و گاستروکنميوس هيچ يک از گروه‌ها ايجاد نکرد (0/05 < P). همچنين، با وجود تغيير رفتار و افزايش پاسخ RMS عضله گاستروکنميوس خارجي از گروه درمان‌نما به گروه WBV، تفاوت معني‌داري در مقدار تغيير RMS عضله مذکور بين دو گروه مشاهده نشد (0/05 < P).  مقدار تغيير RMS عضله سولئوس نيز تفاوت معني‌داري بين دو گروه نداشت (0/05 < P). نتیجه گیری: با اين که افزايش فعاليت الکتريکي عضلات سولئوس و گاستروکنميوس بعد از تمرين WBV از نظر آماري به سطح معني‌دار نرسيد، اما بررسي الگوي پاسخ عضلات بين گروه درمان‌نما و گروه WBV، مبين اثر مثبت WBV بر عضله گاستروکنميوس به عنوان عضله تند انقباض است. کلید واژه‌ها: ويبراسيون کل بدن، ریشه دوم مربع متوسط دامنه،  فعاليت الکترومايوگرافي، سولئوس، گاستروکنميو

Genetic Causes of Putative Autosomal Recessive Intellectual Disability Cases in Hamedan Province

Objective: The aim of this study was to investigate the genetic causes of autosomal recessive intellectual disabilities (AR-ID) in Hamadan province of Iran. Materials & Methods: In this descriptive-analytical cross-sectional study, 25 families with more than one affected with putative autosomal recessive intellectual disability were chosen with collaboration of Welfare Organization of Hamadan province. Families were included a total of 60 patients (39 male and 21 female) whose intellectual disability had been confirmed by Raven IQ test. Each family was asked for clinical examination and getting consent form. Blood sample was collected from each family. One proband from each family was tested for CGG repeat expansion in FMR1 gene, chromosomal abnormalities and inborn errors of metabolism. We also performed homozygosity mapping based on STR markers for seven known MCPH loci in families with primary microcephaly and AR-ID. Results: Five families had full mutation of Fragile X syndrome. No chromosomal abnormalities were identified. Metabolic screening revealed one family with Medium Chain Acyl CoA Dehydrogenase deficiency. None of three families with primary microcephaly and AR-ID showed linkage to any of known seven MCPH loci. Conclusion: The main causes of ID in Hamadan province were Fragile X syndrome and Autosomal Recessive Primary Microcephaly with the frequencies of 20% and 12%, respectively

Short-term effects of whole-body vibration training on neuromuscular activity of muscles in important area in respect of osteoporotic fractures in maximal voluntary isometric contraction in young healthy women

Introduction: Electromyography (EMG) response of muscles to Whole Body Vibration (WBV) has most studied acutely in areas close to the vibration platform. While, chronic effects of WBV on EMG response of muscles in far areas from vibration plate and with therapeutic perspective has been neglected. This study aimed to investigate the EMG response of muscles in areas far from vibration plate and important from orthopedic view in osteoporotic fractures and at risk population like women. Materials and Methods: Twelve nonathletic healthy young women (mean age ± SD; 25.66 ± 2.71 years) were participated in the one-blind controlled trial study design. They all enrolled to the WBV (static semi squat training + vibration) (vertical vibration, 30 Hz, 3mm) and placebo (static semi squat training) groups, randomly. Training protocol was similar in both groups except of WBV machine set as off in placebo group. EMG tests of muscles (lumbar erector spine (ES), Gluteous maximus (G.max), Rectus femoris (RF)) were carried out before and after twelve sessions of training and root mean square and median frequency were extracted for statistical analysis. Results: WBV effects on RMS of ES (P = 0.017) and G.max (P = 0.014), as well as median frequency of ES (P = 0.020) increased than before training. The net effect of WBV compared with placebo increased statistically only in RMS of G.max muscle (P < 0.001) and this increase was more than other two muscles, significantly (P = 0.001). Conclusion: The results indicate the positive net effect of twelve sessions of WBV training on amplitude of muscle activity in G.max. This muscle is far from vibration plate and its strengthening can impose physiologic loading on the greater trochanter, cause likely to strengthen it and prevent osteoporotic fractures in this area. However, the relevance of this finding has to be further investigated in other studies and population like the postmenopausal women. Keywords: WBV training, Women, RMS, Median frequency, EMG, Osteoporosi