As distrofias musculares tipo cinturas (DMC) incluem um grupo heterogêneo de doenças genéticas, caracterizadas por degeneração progressiva da musculatura esquelética pélvica e escapular, cuja herança pode ser autossômica dominante (DMC1) ou autossômica recessiva (DMC2). As formas dominantes são relativamente raras, compreendendo menos que 10% dos casos. Até o momento foram mapeados 8 locos para DMC1, (DMC1A-H), onde 3 genes já foram identificados (DMC1A-C) e 17 locos para DMC2 (DMC2A-Q), onde 16 genes já foram identificados. No presente estudo, identificamos uma família uruguaia (família 1) com 11 indivíduos afetados por DMC, distribuídos em 3 gerações, com um padrão de herança autossômico dominante. Os objetivos desse trabalho foram: mapear e refinar o loco gênico associado a uma manifestação familiar de DMC1, verificar se há co-localização da região mapeada com outras formas de DMC1 descritas na literatura e, apontar genes candidatos na região mapeada e triar mutações. Foi realizado estudo de ligação, no qual mapeou-se o loco para essa doença na região 4q13-q24 com Lod score de valor máximo 4.78 para o marcador D4S414. A região foi delimitada entre os marcadores D4S392 e D4S1572. A análise da região redefiniu o loco em 4q21.22-21.23, com uma redução de 33 Mb para 4Mb. Esse loco compreende a DMC1G (família 2), descrita anteriormente pelo nosso grupo. A triagem de mutação, realizada em amostras de afetados das duas famílias, nos permitiu encontrar uma alteração Thr141Iso no exon 5 do gene FAM175A apenas nos pacientes da família 2. Essa mesma alteração foi encontrada em 1 dos 500 controles testados, o que não nos permite excluir esse gene como um candidato para DMC1G já vez que essa frequência foi inferior a 1%. O fato dessa alteração não ter sido vista na família 1 também não nos permite excluí-lo, pois foi sequenciada apenas a região exônica e a metodologia utilizada também não nos permite verificar deleções nem duplicações. Estudos mais detalhados precisam ser realizados a fim de elucidar: (1) se a alteração desse gene é a causadora dessas DMCs ou, (2) se excluído esse gene, poderia ser o responsável. / Limb girdle muscular dystrophy (LGMD) include a heterogeneous group of genetic diseases characterized by progressive degeneration of skeletal muscles of the pelvic and scapular girdles, whose inheritance may be autosomal dominant (LGMD1) or autosomal recessive (LGMD2). The dominant forms are relatively rare, comprising less than 10% of cases. So far eight loci were mapped for LGMD1 (LGMD1A-H), where three genes have been identified (LGMD1A-C) and 17 loci for LGMD2 (LGMD2A-Q), with 16 identified genes. In this study, we analised a family from Uruguay (family 1) with 12 individuals affected by LGMD, with an autosomal dominant pattern distributed in three generations. The objectives of this study were: to map and refine the gene locus associated with a familial DMC1, check for co-location of the mapped region to other forms of DMC1 described in the literature and, to point candidate genes mapped in the region and to screen mutations. A linkage study was conducted, and we mapped the locus for this disease in the region 4q13-q24 with a maximum Lod score of 4.78 for marker D4S414. The region was defined between markers D4S392 and D4S1572. The analysis of the region has redefined the locus to 4q21.22-in 21:23, a reduction from 33 Mb to 4 Mb. This site includes LGMD1G (family 2), previously described by our group. Mutation screening, performed on samples of affected pacients from both families, allowed us to find a modification Thr141Iso in exon 5 on FAM175A gene only in patients of family 2. This same alteration was found in one of the 500 controls tested but does not allow us to exclude this gene as a candidate for LGMD1G since that frequency was less than 1%. The fact that this change was not seen in a family 1 does not allow us to exclude it either because only the exonic region was sequenced and the methodology used does not allow us to detect deletions or duplications. More detailed studies should be conducted to elucidate: (1) whether the alteration found in this gene is the cause of these DMCs, or (2) if not this gene, which could be the one responsible.

Thesis title: Electromyographic Analysis of the Shoulder Girdle Muscles Inclusion of Volleyball Players Problem definition: Elite sport is very demanding, not only physically, but also mentally. The demands on the musculoskeletal system are often not compensated, especially in children and junior categories. The only targeted and regular compensation takes place at volleyball by the fitness training in the gym, but not always properly lead and adapted to the individual needs of athletes. The question is whether it is possible to prevent these problems. From my perspective, yes, the inclusion of appropriate compensation exercise in normal training session, which will require little equipment and time and to be functionally connected with volleyball technique that players do not lose the game performance. In the context of the thesis will be compared exercising of the second diagonal PNF for the upper extremity with an elastic resistance and simulated strike without the ball - volley lob, as an alternative fitness of exercises for volleyball players. Objectives: The aim of the dissertation is based on the available literature to outline the issues of kinesiological and biomechanical relationships of the shoulder girdle in sports especially in volleyball, which is a typical representative of the...

As distrofias musculares tipo cinturas (DMC) incluem um grupo heterogêneo de doenças genéticas, caracterizadas por degeneração progressiva da musculatura esquelética pélvica e escapular, cuja herança pode ser autossômica dominante (DMC1) ou autossômica recessiva (DMC2). As formas dominantes são relativamente raras, compreendendo menos que 10% dos casos. Até o momento foram mapeados 8 locos para DMC1, (DMC1A-H), onde 3 genes já foram identificados (DMC1A-C) e 17 locos para DMC2 (DMC2A-Q), onde 16 genes já foram identificados. No presente estudo, identificamos uma família uruguaia (família 1) com 11 indivíduos afetados por DMC, distribuídos em 3 gerações, com um padrão de herança autossômico dominante. Os objetivos desse trabalho foram: mapear e refinar o loco gênico associado a uma manifestação familiar de DMC1, verificar se há co-localização da região mapeada com outras formas de DMC1 descritas na literatura e, apontar genes candidatos na região mapeada e triar mutações. Foi realizado estudo de ligação, no qual mapeou-se o loco para essa doença na região 4q13-q24 com Lod score de valor máximo 4.78 para o marcador D4S414. A região foi delimitada entre os marcadores D4S392 e D4S1572. A análise da região redefiniu o loco em 4q21.22-21.23, com uma redução de 33 Mb para 4Mb. Esse loco compreende a DMC1G (família 2), descrita anteriormente pelo nosso grupo. A triagem de mutação, realizada em amostras de afetados das duas famílias, nos permitiu encontrar uma alteração Thr141Iso no exon 5 do gene FAM175A apenas nos pacientes da família 2. Essa mesma alteração foi encontrada em 1 dos 500 controles testados, o que não nos permite excluir esse gene como um candidato para DMC1G já vez que essa frequência foi inferior a 1%. O fato dessa alteração não ter sido vista na família 1 também não nos permite excluí-lo, pois foi sequenciada apenas a região exônica e a metodologia utilizada também não nos permite verificar deleções nem duplicações. Estudos mais detalhados precisam ser realizados a fim de elucidar: (1) se a alteração desse gene é a causadora dessas DMCs ou, (2) se excluído esse gene, poderia ser o responsável. / Limb girdle muscular dystrophy (LGMD) include a heterogeneous group of genetic diseases characterized by progressive degeneration of skeletal muscles of the pelvic and scapular girdles, whose inheritance may be autosomal dominant (LGMD1) or autosomal recessive (LGMD2). The dominant forms are relatively rare, comprising less than 10% of cases. So far eight loci were mapped for LGMD1 (LGMD1A-H), where three genes have been identified (LGMD1A-C) and 17 loci for LGMD2 (LGMD2A-Q), with 16 identified genes. In this study, we analised a family from Uruguay (family 1) with 12 individuals affected by LGMD, with an autosomal dominant pattern distributed in three generations. The objectives of this study were: to map and refine the gene locus associated with a familial DMC1, check for co-location of the mapped region to other forms of DMC1 described in the literature and, to point candidate genes mapped in the region and to screen mutations. A linkage study was conducted, and we mapped the locus for this disease in the region 4q13-q24 with a maximum Lod score of 4.78 for marker D4S414. The region was defined between markers D4S392 and D4S1572. The analysis of the region has redefined the locus to 4q21.22-in 21:23, a reduction from 33 Mb to 4 Mb. This site includes LGMD1G (family 2), previously described by our group. Mutation screening, performed on samples of affected pacients from both families, allowed us to find a modification Thr141Iso in exon 5 on FAM175A gene only in patients of family 2. This same alteration was found in one of the 500 controls tested but does not allow us to exclude this gene as a candidate for LGMD1G since that frequency was less than 1%. The fact that this change was not seen in a family 1 does not allow us to exclude it either because only the exonic region was sequenced and the methodology used does not allow us to detect deletions or duplications. More detailed studies should be conducted to elucidate: (1) whether the alteration found in this gene is the cause of these DMCs, or (2) if not this gene, which could be the one responsible.

As células-tronco podem ser isoladas tanto de tecidos embrionários quanto de tecidos provenientes de um organismo adulto. Este projeto teve por objetivo caracterizar, descrever as células derivadas da região uterina e da cinta placentária junção materno/fetal da placenta de carnívoros domésticos (cães e gatos), e verificar a sua capacidade de pluripotência. Os úteros gestantes e não gestantes foram obtidos em campanhas de castrações e de controle populacional de cães e gatos, na cidade de Pirassununga/SP. Foram coletados 24 úteros gravídicos de animais hígidos, em diferentes idades gestacionais. O material foi dividido em três fases distintas da gestação, ou seja inicio que compreende de 8 a 20 dias de gestação; meio de 21 a 30 dias de gestação e final de 31 a 60 dias de gestação. O material foi coletado de fêmeas caninas e felinas, quatro úteros de cada fase, totalizando 12 úteros de cães e 12 de felinos. Coletamos também 8 úteros de fêmeas nulíparas (4 de cadelas e 4 de gatas) e 8 úteros com um mês pós parto (4 de cadelas e 4 de gatas). As amostras foram fixadas em paraformoldeido tamponado a 4% para a análise histológica e de imunohistoquimica. Para a padronização da imunohistoquimica inúmeros testes de marcação e diluição dos anticorpos utilizados nesta pesquisa foram realizados, todo protocolo aqui descrito foi padronizado pela primeira vez. Nas análises de imunohistoquimica avaliamos a expressão de marcadores associados a células-tronco pluripotentes Nanog, Oct4 e Sox2. Nas cadelas, as marcações foram positivas em todas as fases, gestacionais e não gestacionais. A detecção dessas proteínas nesta espécie ficaram padronizadas, destacando algumas diferenças quantitativas durante alguns períodos da gestação. Foi observado que o Oct4 na cadela, mostra uma diferença significativa (p=0,0064), entre as fases de início e meio da gestação e entra o início e a fase de termo. Quando comparados os resultados das análises imunohistoquimicas utilizando os três anticorpos entre si, nos três períodos gestacionais ficou evidente uma diferença (p=0,0005) somente relativa a proteína Nanog com Oct4. Nas gatas apenas foi possível padronizar o protocolo do Nanog e do Sox2, sendo a marcação feita com Oct4 negativa. Nesta espécie foi possível observar uma diferença da proteína Nanog (p=0,0006) quando comparada na fase inicial para a fase do meio e início da gestação para a fase termo. No que se refere as fêmeas nulíparas e fêmeas pós-parto destaca-se a ausência de diferenças quando comparados os anticorpos na fase pós parto tanto em cadelas quanto em gatas. Na fase nulípara foram observadas diferenças somente na cadela (p=0,0018) para os três anticorpos. Desta forma, a caracterização de células de origem placentária com característica de células tronco pode abrir um leque de possibilidades para obtenção destas células de forma mais ética, uma vez que este material é descartado na castrações. Foi possível a identificação das células que expressão proteínas pluripotentes em diferentes idades gestacionais, tanto na região de cinta placentária como no útero. Apesar de semelhantes, as espécies aqui estudadas apresentaram diferenças na realização do protocolo da imunihistoquímica. Pesquisas relacionadas com as células-tronco do endométrio vêm crescendo, principalmente porque estas células podem ser facilmente obtidas, a partir de fontes descartadas, sem entraves éticos. Desta forma tem o potencial de serem uma nova fonte para o desenvolvimento na terapêutica como terapia celular / The stem cells can be isolated both embryonic tissues as much tissues from an adult organism. This project had from objective characterize and describe cells derived from uterine region and placental girdle - maternal junction / fetal placenta of domestics carnivores (dogs and cats), and check their capacity of pluripotency. The uterus pregnant and non-pregnants were obtained in castrations campaigns and population control of dogs and cats in the city of Pirassununga/SP. Were collected 24 uterus gravidic of healthy animals at different gestational ages. The material was split into three separate stages of pregnancy,that is, the Startconsist of 8 to 20 days of gestation;between21-30 days of gestation and end 31-60 days of gestation. The material was colleted from canine and feline females, four uterus each phase 12 uterus of dogs and 12 uterus of cats. We also collect 8 nulliparous female uterus (4 of dogs and 4 of cats) and 8 uterus with a postpartum month (4 of dogs and 4 of cats). The samples were fixed in paraformoldeido at 4% for histological analysis and immunohistochemical. For the standardization of immunohistochemical, were made numerous tests of marking and dilution of antibodies all the protocol described here has been standardized for the first time. In immunohistochemical analysis, we evaluated the expression of markers associated with pluripotent stem cells Nanog, Oct4 and Sox2. In cats, it was only possible to standardize the protocol of the Nanog and of the Sox2, and marking made with negative Oct4. This species was possible was possible to observe a difference in the Nanog protein (p = 0.0006) compared with the initial phase to the medium and early pregnancy to the term phase. As regards the nulliparous females and postpartum females there is the absence of differences when compared to the antibodies in postpartum stage, both in dogs and in cats. In nulliparous phase differences were only observed in dogs (p = 0.0018) for the three antibodies. Thus, the characterization of placental origin cells with stem cell characteristic can open up a range of possibilities for obtaining such cells more ethical, since this material is discarded in castration. The identification of pluripotent cells expressing proteins at different gestational ages was possible in both placental belt region as in utero. Although similar, the species studied here showed differences in the realization of immunohistochemical protocol. Searches related to the endometrial stem cells are growing, mainly because these cells can be easily obtained from sources discarded without ethical barriers. This way has the potential to be a new source for development in the therapeutic cell therapy

京都大学 / 0048 / 新制・課程博士 / 博士(人間健康科学) / 甲第21703号 / 人健博第69号 / 新制||人健||5(附属図書館) / 京都大学大学院医学研究科人間健康科学系専攻 / (主査)教授 山田 重人, 教授 古田 真里枝, 教授 万代 昌紀 / 学位規則第4条第1項該当 / Doctor of Human Health Sciences / Kyoto University / DFAM

Bakgrund: Graviditetsrelaterad bäckengördelsmärta är vanligt förekommande bland kvinnor under och efter en graviditet. Detta påverkar kvinnorna negativt i stor utsträckning både fysiskt och psykiskt. Fysioterapi är en viktig och betydelsefull behandlingsform vid detta tillstånd, men evidensen kring fysioterapeutiska åtgärder är inte helt klarlagd och mer forskning behövs. Syfte: Studien syftade till att utforska och beskriva fysioterapeuterss upplevelser av och erfarenheter  frångällandeav  fysioterapeutiska åtgärder för patienter medvid graviditetsrelaterad BGS.   Metod: Studien var en kvalitativ intervjustudie som baserades på sex semi-strukturerade intervjuer. Informanterna var fysioterapeuter som arbetade med kvinnor som har graviditetsrelaterad bäckengördelsmärta. Ett bekvämlighetsurval tillämpades vid rekrytering av informanter. Data analyserades genom en kvalitativ innehållsanalys. Resultat: Fyra kategorier och tolv underkategorier identifierades i analysprocessen. De fyra kategorierna var: Ett givande och utmanande arbete där patientbemötandet har stor betydelse, Undersöknings-metodik varierar mellan fysioterapeuterna, Erfarenheter och upplevelser av behandlingsåtgärder varierar mellan fysioterapeuterna och Fysioterapi är ett viktigt och betydelsefullt arbetsområde med stort behov av utveckling., med sammanlagt tolv subkategorier. Konklusion: Fysioterapeuter som arbetar med graviditetsrelaterad bäckengördelsmärta är betydelsefulla och gör stor skillnad. Det framkom att det finns ett stort behov av utveckling inom området för att kunna förbättra och effektivisera vården. Vidare forskning behövs därför för att möjliggöra utveckling och fylla existerande kunskapsluckor. / Background: Pregnancy-related pelvic girdle pain is common among women during and after pregnancy. This affects women negatively both physically and mentally. Physiotherapy is an important and significant form of treatment for this condition, but the evidence regarding physiotherapeutic interventions is not fully clarified and more research is needed. Purpose: The purpose of this study was to describe physiotherapist’s views on and experiences from physiotherapeutic interventions for patients with pregnancy-related pelvic girdle pain. Method: The study was a qualitative interview study based on six semi-structured interviews. The informants were physiotherapists who worked with women who have pregnancy-related pelvic girdle pain. A convenience selection sampling was applied when recruiting informants. The data were analyzed through using a qualitative content analysis.  Results: Four categories and twelve subcategories were identified in the analysis process. The four categories were: A rewarding and challenging work where the encounter with the patient is of great importance, Examination methodology varies between the physiotherapists, Physiotherapists views and experience of treatment variesvaries, and Physiotherapy is an important and significant area of work with great need of development., with a total of twelve subcategories. Conclusion: Physiotherapists who work with pregnancy-related pelvic girdle pain are important and make a big difference. It emerged that there is a great need for development in the area to be able to improve and make the care more effective. Further research is therefore needed to enable development and fill existing knowledge gaps.

Bakgrund: Graviditetsrelaterad bäcken- och/eller ländryggssmärta kan bero på hormonella och biomekaniska förändringar som vanligen efter förlossningen. Dock kan kvinnor få ihållande smärtbesvär vilket kan påverka funktion och livskvalitet. Bäckenbottenträning, statisk bålträning och dynamisk bålstabiliserande träning har liknande effektmekanism för smärtlindring. Riktlinjer kring fysisk träning efter förlossning saknar en uppdaterad evidensbild för dess smärtlindrande effekt. Syfte: Syftet var att sammanställa evidensläget samt bedöma evidensstyrkan för den smärtlindrande effekten av bäckenbottenträning, statisk bålträning samt dynamisk bålstabiliserande träning vid smärta i bäcken- och/eller lumbalregion efter förlossning.  Metod: En systematisk litteraturöversikt genomfördes med artikelsökning på databaserna PubMed, Cinahl, PEDro och Cochrane. Varje artikel granskades enskilt av respektive författare utifrån en granskningsmall innan en gemensam sammanställning utfördes. Evidensgradering utifrån varje träningsform genomfördes med GRADE. Resultat: Nio randomiserade kontrollerade studier inkluderades med 499 kvinnor där fysisk träning visades ge en smärtlindrande effekt på postpartumsmärta i bäcken- och/eller ländrygg med genomsnittlig metodologisk kvalitet på 50 poäng. Dynamisk bålstabiliserande träning inkluderade sex studier och bäckenbottenträning två studier, samtliga med låg tillförlitlighet (⨁⨁◯◯). Statisk bålträning inkluderade en studie med mycket låg tillförlitlighet (⨁◯◯◯) enligt GRADE. Konklusion: Fysisk träning kan användas som behandling vid postpartumsmärta i bäcken- och/eller ländrygg. Evidensgraden behöver höjas genom fler studier, fler deltagare och blindad resultatuppföljning. / Background: Pregnancy-related pelvic girdle pain and/or low back pain is commonly caused by hormonal or biomechanical changes and tends to disappear after giving birth. However, some women are affected by the pain for an extended period, which will affect their functional status and quality of life. Pelvic floor exercises, static core exercises and dynamic core stabilisation exercises have a similar mechanism behind the pain-relieving effect. Guidelines for physical exercise after childbirth lack an updated picture of evidence for the pain-relieving effect. Purpose: The purpose of this review was to gather evidence and evaluate the strength of the evidence in relation to the pain-relieving effect of pelvic floor exercises, static core exercises, and dynamic core stabilisation exercises on pelvic girdle pain and/or low back pain after childbirth. Method: A systematic literature review was carried out and articles were gathered from the databases PubMed, Cinahl, PEDro and Cochrane. Each article was analysed individually by each author using a review template before a collective assessment was made. GRADE was used to rate the evidence for each form of physical exercise.  Results: Nine randomised controlled trials were included with 499 women where physical exercise was used to try and treat postpartum pelvic girdle pain and/or low back pain with a mean methodological quality of 50 points. Six studies evaluated dynamic core stabilisation exercises and two reviewed pelvic floor exercises, all with an overall low reliability (⨁⨁◯◯). Static core exercise was assessed in one study with very low reliability (⨁◯◯◯) according to GRADE. Conclusion: Physical exercise can be used as a treatment for pelvic gridle pain and/or low back pain postpartum. The level of evidence for each form of physical exercise needs to increase through more studies, more participants and blinded outcome follow-up.

Thesis title: Electromyographic Analysis of the Shoulder Girdle Muscles Inclusion of Volleyball Players Problem definition: Elite sport is very demanding, not only physically, but also mentally. The demands on the musculoskeletal system are often not compensated, especially in children and junior categories. The only targeted and regular compensation takes place at volleyball by the fitness training in the gym, but not always properly lead and adapted to the individual needs of athletes. The question is whether it is possible to prevent these problems. From my perspective, yes, the inclusion of appropriate compensation exercise in normal training session, which will require little equipment and time and to be functionally connected with volleyball technique that players do not lose the game performance. In the context of the thesis will be compared exercising of the second diagonal PNF for the upper extremity with an elastic resistance and simulated strike without the ball - volley lob, as an alternative fitness of exercises for volleyball players. Objectives: The aim of the dissertation is based on the available literature to outline the issues of kinesiological and biomechanical relationships of the shoulder girdle in sports especially in volleyball, which is a typical representative of the...

Thesis (MSc)-- University of Stellenbosch, 1954 / Published in the Annals of the University of Stellenbosch, Volume 31, Section A, No.1 (1955) / ENGLISH ABSTRACT: The pelvic girdles of the two anuran genera Ascaphus and Leiopelma of the family Ascaphidae are very similar. Attached to them by cartilage (or connective tissue in some Ascaphus specimens) is a cartilaginous, in Leiopelmu somewhat ossified, epibubis. In Ascaphu8, as in Xenopus, the epipubis originates from two Anlages, and its muscles are also paired in the Ascaphidae, while in Xenopus only one is present, although this also appears to originate (rom two muscles. The cloaca extends behind the pelvic girdle in both sexes in Al:lcaphus, and it is supported by two rods consisting of strong connective tissue (Faserknochen?). These rods are attached to the ventral surface of the pelvic girdle, in the female closely, in the male by means of tendons. Between the rods and the epipubis a broad tendinous band extends, which is thick in the male; in the latter the mm. compressores cloacae have their origins posteriorly on the rods, while in the female the rods are completely imbedded in these muscles posteriorly. In the female particularly there are transverse muscle fibres which are not striped although probably derived from the mm. compressorcs cloacae. Behind the pelvic girdle there is cavernous tissue in both layers of the tunica muscularis, and ventrally it covers the mm. eompressores cloacae. The circular and longitudinal muscle layers are poste riorly separated by gliding planes. The cloaca is supplied by branches of the a. mcsenterica posterior and the au. pudendae anteriores, and is drained by the vv. pudendae and a small medial v. eaudalis. The cloaca is innervated dorsally by the plexus ischio·coccygeus and ventrally by a branch of the n.ischiadicus (the n. pudendus). The cloaca of the male serves as a copulatory organ. There is internal fertilization. / No Afrikaans abstract available. / The copy we received from the author were pages individually scanned in as JPEG images.

Title: The Comparison of Muscle Timing of Chosen Shoulder Girdle Muscles During Breaststroke Inside and Outside the Water Objectives: The aim of this thesis was to compare timing and activation of chosen shoulder girdle muscles during breaststroke in the pool with counterflow and during excercise with rubber expander. Methods: It was analyzed timing and level of muscle activation during swimming and simulating the same movement of upper extremities in the air against the power of rubber expander. As an objetification was used surface electromyography. One profesional swimer took part in this experiment Results: Based on results it seemed that the movement of upper extremities are different in the pool and in the air during swimming stroke of breaststroke. Most of the measurement were different in the pool and in the air. Keywords: swimming, breaststroke, EMG, WaS-EMG, electromyography, shoulder girdle muscles, timing