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1.
Article de Coréen | WPRIM | ID: wpr-718773

RÉSUMÉ

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (BCR-ABL1, PML-RARA, AML1-ETO, and TEL-AML1), genetic tests for Janus kinase 2, FMS-like tyrosine kinase 3-internal tandem duplication, FMS-like tyrosine kinase 3-tyrosine kinase domain, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-raderd Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. Molecular genetic surveys revealed excellent results for most participants. The external quality assessment program for genetic analysis in 2017 proved useful for continuous education and the evaluation of quality improvement.


Sujet(s)
Achondroplasie , Acidose lactique , Syndrome d'Angelman , Apolipoprotéines , Encéphalopathies , Région mammaire , Surdité , Éducation , Épilepsies myocloniques , Syndrome du chromosome X fragile , Réarrangement des gènes , Perte d'audition , Dégénérescence hépatolenticulaire , Maladie de Huntington , Kinase Janus-2 , Corée , Évaluation de la compétence des laboratoires , Leucémies , Syndrome de Li-Fraumeni , Methylenetetrahydrofolate reductase (NADPH2) , Biologie moléculaire , Néoplasie endocrinienne multiple , Amyotrophie spinale , Amyotrophies , Myopathie de Duchenne , Atrophie optique héréditaire de Leber , Tumeurs de l'ovaire , Anatomopathologie moléculaire , Phosphotransferases , Contrôle de qualité , Amélioration de la qualité , Ataxies spinocérébelleuses , Récepteur-1 au facteur croissance endothéliale vasculaire
2.
Article de Coréen | WPRIM | ID: wpr-194390

RÉSUMÉ

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated in the chromosome surveys, 31 laboratories participated in the fluorescence in situ hybridization surveys, and 133 laboratories participated in the molecular genetics surveys. All except one laboratory showed acceptable results in the cytogenetics surveys. The molecular genetics surveys included the following tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemias and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2 ), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome (FMR1), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, cytochrome P450 2C9 genotyping, cytochrome P450 2C19 genotyping, and DNA sequencing analysis. The molecular genetics surveys showed excellent results for most of the participants. The external quality assessment program for genetics analysis in 2015 proved to be helpful for continuous education and the evaluation of quality improvement.


Sujet(s)
Humains , Achondroplasie , Acidose lactique , Apolipoprotéines , Région mammaire , Cytochrome P-450 enzyme system , Cytogénétique , Surdité , Éducation , Épilepsies myocloniques , Fluorescence , Tyrosine kinase-3 de type fms , Syndrome du chromosome X fragile , Réarrangement des gènes , Génétique , Perte d'audition , Hépatite B , Dégénérescence hépatolenticulaire , Maladie de Huntington , Hybridation in situ , Corée , Syndrome de Li-Fraumeni , Lymphomes , Methylenetetrahydrofolate reductase (NADPH2) , Biologie moléculaire , Néoplasie endocrinienne multiple , Amyotrophie spinale , Amyotrophies , Myopathie de Duchenne , Mycobacterium tuberculosis , Atrophie optique héréditaire de Leber , Tumeurs de l'ovaire , Papillome , Amélioration de la qualité , Analyse de séquence d'ADN , Ataxies spinocérébelleuses , Accident vasculaire cérébral
4.
Article de Coréen | WPRIM | ID: wpr-104674

RÉSUMÉ

Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2014 based on cytogenetics and molecular genetics surveys. A total of 44 laboratories participated in the chromosome surveys, 33 laboratories participated in the fl uorescence in situ hybridization (FISH) surveys, and 130 laboratories participated in the molecular genetics surveys as a part of these trials. All laboratories showed acceptable results in the chromosome and FISH surveys. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, nonsyndromic hearing loss and deafness (GJB2), multiple endocrine neoplasia 2 (RET), Leber hereditary optic neuropathy (major mutation), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, and DNA sequencing analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2014 proved to be helpful for continuous education and the evaluation of quality improvement.


Sujet(s)
Humains , Achondroplasie , Acidose lactique , Apolipoprotéines , Région mammaire , Cytogénétique , Surdité , Éducation , Épilepsies myocloniques , Tyrosine kinase-3 de type fms , Syndrome du chromosome X fragile , Réarrangement des gènes , Génétique , Perte d'audition , Hépatite B , Dégénérescence hépatolenticulaire , Maladie de Huntington , Hybridation in situ , Corée , Syndrome de Li-Fraumeni , Lymphomes , Methylenetetrahydrofolate reductase (NADPH2) , Biologie moléculaire , Techniques de diagnostic moléculaire , Néoplasie endocrinienne multiple , Amyotrophie spinale , Amyotrophies , Myopathie de Duchenne , Mycobacterium tuberculosis , Atrophie optique héréditaire de Leber , Tumeurs de l'ovaire , Papillome , Assurance de la qualité des soins de santé , Contrôle de qualité , Amélioration de la qualité , Analyse de séquence d'ADN , Ataxies spinocérébelleuses , Accident vasculaire cérébral
5.
Yonsei med. j ; Yonsei med. j;: 993-997, 2015.
Article de Anglais | WPRIM | ID: wpr-150486

RÉSUMÉ

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. RESULTS: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. CONCLUSION: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.


Sujet(s)
Adulte , Femelle , Humains , Mâle , Adulte d'âge moyen , Activités de la vie quotidienne , Âge de début , Asiatiques/génétique , Amyotrophie bulbospinale liée à l'X/génétique , Évolution de la maladie , Gènes récessifs , Études d'associations génétiques , Génotype , Faiblesse musculaire/physiopathologie , Amyotrophie spinale , Amyotrophies/génétique , Phénotype , Récepteurs aux androgènes/génétique , République de Corée , Répétitions de trinucléotides/génétique
6.
Article de Anglais | WPRIM | ID: wpr-62984

RÉSUMÉ

We present a rare case of functional stenosis of the jejunal loop following left hepatectomy and hepaticojejunostomy long after pylorus-preserving pancreaticoduodenectomy (PPPD), which was successfully managed by balloon dilation. A 70-year-old Korean man had undergone PPPD 6 years before due to 1.8 cm-sized distal bile duct cancer. Sudden onset of obstructive jaundice led to diagnosis of recurrent bile duct cancer mimicking perihilar cholangiocarcinoma of type IIIb. After left portal vein embolization, the patient underwent resection of the left liver and caudate lobe and remnant extrahepatic bile duct. The pre-existing jejunal loop and choledochojejunostomy site were used again for new hepaticojejunostomy. The patient recovered uneventfully, but clamping of the percutaneous transhepatic biliary drainage (PTBD) tube resulted in cholangitis. Biliary imaging studies revealed that biliary passage into the afferent jejunal limb was significantly impaired. We performed balloon dilation of the afferent jejunal loop by using a 20 mm-wide balloon. Follow-up hepatobiliary scintigraphy showed gradual improvement in biliary excretion and the PTBD tube was removed at 1 month after balloon dilation. This very unusual condition was regarded as disuse atrophy of the jejunal loop, which was successfully managed by balloon dilation and intraluminal keeping of a large-bore PTBD tube for 1 month.


Sujet(s)
Sujet âgé , Humains , Tumeurs des canaux biliaires , Conduits biliaires extrahépatiques , Cholangiocarcinome , Angiocholite , Cholédocostomie , Constriction , Sténose pathologique , Diagnostic , Drainage , Membres , Études de suivi , Hépatectomie , Ictère rétentionnel , Foie , Amyotrophies , Duodénopancréatectomie , Veine porte , Scintigraphie
7.
Article de Coréen | WPRIM | ID: wpr-67443

RÉSUMÉ

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is characterized by progressive death of motor neurons in the cortex, brainstem, and spinal cord. Until now, many treatment strategies have been tested in ALS, but so far only Riluzole has shown efficacy of slightly slowing disease progression. The pathophysiological mechanisms underlying ALS are multifactorial, with a complex interaction between genetic factors and molecular pathways. Other motor neuron disease such as spinal muscular atrophy (SMA) and spinobulbar muscular atrophy (SBMA) are also progressive neurodegenerative disease with loss of motor neuron as ALS. This common thread of motor neuron loss has provided a target for the development of therapies for these motor neuron diseases. A better understanding of these pathogenic mechanisms and the potential pathological relationship between the various cellular processes have suggested novel therapeutic approaches, including stem cell and genetics-based strategies, providing hope for feasible treatment of ALS.


Sujet(s)
Sclérose latérale amyotrophique , Tronc cérébral , Évolution de la maladie , Espoir , Maladies du motoneurone , Motoneurones , Amyotrophie spinale , Amyotrophies , Maladies neurodégénératives , Riluzole , Moelle spinale , Cellules souches
8.
Article de Coréen | WPRIM | ID: wpr-65816

RÉSUMÉ

Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for Clinical Laboratories performed two trials for cytogenetics and molecular genetics surveys in 2013. A total of 43 laboratories participated in the cytogenetic surveys, 30 laboratories participated in the fluorescent in situ hybridization surveys, and 122 laboratories participated in the molecular genetics surveys in 2013. Almost all of them showed acceptable results. However, some laboratories had unacceptable results for karyotype nomenclature, detection of complex cytogenetic abnormalities in hematologic neoplasms and constitutional anomalies. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, fms-related tyrosine kinase 3, Nucleophosmin, cancer-associated genes (KRAS, EGFR and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy associated with ragged-red fibers, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, Fragile X syndrome, non-syndromic hearing loss and deafness (GJB2), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping and DNA sequence analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2013 was proved to be helpful for continuous education and evaluation of quality improvement.


Sujet(s)
Humains , Achondroplasie , Acidose lactique , Apolipoprotéines , Région mammaire , Aberrations des chromosomes , Cytogénétique , Surdité , Éducation , Syndrome du chromosome X fragile , Réarrangement des gènes , Génétique , Perte d'audition , Tumeurs hématologiques , Hépatite B , Dégénérescence hépatolenticulaire , Maladie de Huntington , Hybridation fluorescente in situ , Caryotype , Corée , Syndrome de Li-Fraumeni , Lymphomes , Syndrome MERRF , Methylenetetrahydrofolate reductase (NADPH2) , Biologie moléculaire , Amyotrophie spinale , Amyotrophies , Myopathie de Duchenne , Mycobacterium tuberculosis , Tumeurs de l'ovaire , Papillome , Protein-tyrosine kinases , Contrôle de qualité , Amélioration de la qualité , Analyse de séquence d'ADN , Ataxies spinocérébelleuses , Accident vasculaire cérébral
9.
Article de Chinois | WPRIM | ID: wpr-250717

RÉSUMÉ

Disuse atrophy of skeletal muscle is a common clinical problem and its exact mechanisms have not been fully understood. Previous studies suggested that disuse muscle atrophy is realized through the activation of one or more cell signaling pathways, but studies have shown that disuse atrophy is the activation of the ubiquitin-proteasome caused extensive decomposition of the protein. The present researches for disuse atrophy mainly focus on regulatory role in the upstream signaling molecules MuRF1 and Atroginl/MAFbx by NF-kappaB, IGF-1/PI3K/Akt, TGF-beta/Smad and MAPK signal pathway and a plurality of signal pathway activation or inhibition and interaction,and then through the ubiquitin--proteasome to influence the metabolism of protein. But regulation of expression of MuRF1 and Atroginl/MAFbxs still to be studied. Participate in disuse atrophy also needs to be further studied with atrophy confirmation and functional gene verification. The paper summarized recent original articles about the researches of skeletal muscle disuse atrophy and reviewed the various signal pathways and related u-biquitin-proteasome protein metabolism of disuse muscle atrophy.


Sujet(s)
Animaux , Humains , Muscles squelettiques , Métabolisme , Amyotrophies , Métabolisme , Protéines , Métabolisme , Transduction du signal
10.
Article de Anglais | WPRIM | ID: wpr-106946

RÉSUMÉ

Facial asymmetry is not an uncommon occurrence in day to day dental practice. It can be caused by various etiologic factors ranging from facial trauma to serious hereditary conditions. Here, we report a rare case of non-syndromic facial asymmetry in a young female, who was born with this condition but was not aware of the progression of asymmetry. No relevant family history was recognized. She was also deficient in both deciduous and permanent teeth in the corresponding region of maxilla. Hence, the cause of this asymmetry was believed to be a segmental odontomaxillary hypoplasia of left maxilla accompanied by agenesis of left maxillary premolars and molars and disuse atrophy of corresponding facial musculature. This report briefly discussed the comparative features of segmental odontomaxillary hypoplasia, hemimaxillofacial dysplasia, and segmental odontomaxillary dysplasia and justified the differences between segmental odontomaxillary hypoplasia and the other two conditions.


Sujet(s)
Femelle , Humains , Prémolaire , Asymétrie faciale , Maxillaire , Molaire , Amyotrophies , Dent
11.
Rev. méd. Minas Gerais ; 20(4 supl.3): 12-19, out.-dez.2010. tab
Article de Portugais | LILACS | ID: lil-795497

RÉSUMÉ

As doenças neuromusculares acometem a unidade motora, podendo comprometer os neurônios do corno anterior da medula, as raízes nervosas e os nervos periféricos, a junção neuromuscular ou o músculo. Podem ser de origem genética ou adquirida. Na infância predominam as de origem genética, sendo as mais frequentes a distrofia muscular tipo Duchenne e a amiotrofia espinhal progressiva. Vários métodos e escalas foram propostos para a avaliação e acompanhamento aos pacientes com doenças neuromusculares, tais como a escala de força manual, conhecida como medical research counsil (MRC), a goniometria e escalas funcionais. Entre as escalas funcionais, destaca-se a escala medida da função motora (MFM), uma vez que ela pode ser utilizada em qualquer doença neuromuscular,é de fácil aplicação e de baixo custo. O presente estudo é uma revisão bibliográfica não sistemática sobre as doenças neuromusculares mais comuns na infância e os instrumentos de medida úteis na avaliação dos pacientes portadores dessas doenças...


The neuromuscular diseases affect the motor unit, and may compromise the neurons of the anterior horn of the spinal cord, the nerves’ roots and the peripheral nerves, the neuro muscular junction or the muscle. They can have genetic or acquired origin. The genetic origin diseases predominate in childhood, and the most frequent are the Duchenne muscular dystrophy and the spinal muscular atrophy. Several methods and scales were proposed for the assessment and monitoring of patients with neuromuscular diseases, such as the manual strength know as medical research council (MRC), the goniometry and the functional scales. Among the functional scales the motor function measure (MFM) is noteworthy, asit can be used in any neuromuscular disease, is easily applicable and has low cost. This study is a bibliographic review on the most common neuromuscular diseases in childhood and the useful measuring instruments for the assessment of patients with these diseases...


Sujet(s)
Humains , Mâle , Femelle , Enfant , Adolescent , Activité motrice , Maladies neuromusculaires , Maladies neuromusculaires/classification , Myopathie de Duchenne , Poids et mesures , Amyotrophies
12.
Rev. bras. reumatol ; Rev. bras. reumatol;49(3)maio-jun. 2009. ilus, tab
Article de Anglais, Portugais | LILACS | ID: lil-518754

RÉSUMÉ

A caquexia relacionada à artrite reumatoide é conceituada como perda involuntária de massa magra, predominantemente de músculo esquelético, que também ocorre em vísceras e sistema imune, com massa gorda estável ou um pouco elevada e com pequena ou nenhuma perda de peso. A causa é multifatorial, incluindo a produção acentuada de citocinas, principalmente TNF± e IL-1², diminuição da ação periférica da insulina e pouca atividade física. A caquexia se faz presente em doentes com AR ativa ou mesmo inativa. Neste artigo discutem-se aspectos relacionados à patogenia, implicações clínicas e possíveis opções terapêuticas.


Rheumatoid cachexia can be defined as an involuntary loss of body cell mass, which predominates in skeletal muscle, but is also observed in the viscera and immune system. It occurs with little or no weight loss in the presence of stable or increased fat mass. The etiology is likely multifactorial, and involves excessive inflammatory cytokine production, namely excess tumor necrosis factor-± and interleukin-1² production, reduced peripheral insulin action, and low habitual physical activity. Cachexia occurs in active rheumatoid arthritis and even in the presence of disease control. In this article, we discuss the pathogenesis of rheumatoid cachexia, its clinical implications and potential therapies.


Sujet(s)
Humains , Sujet âgé , Sujet âgé de 80 ans ou plus , Polyarthrite rhumatoïde , Composition corporelle , Cachexie , Vieillissement/physiologie , Amyotrophie , Maladies musculaires , Amyotrophies
13.
Rev. Hosp. Clin. Univ. Chile ; 19(4): 302-308, 2008.
Article de Espagnol | LILACS | ID: lil-530357

RÉSUMÉ

Sarcopenia is refers to the gradual decline in muscle mass and quality noted with advancing age, but is not only present in that’s condition. In the last time appear new names proposal how myoestheatosis of the aging in reference at changes in the fat composition of the mass muscle. Factors implicated in the etiology of sarcopenia include decreased physical activity, malnutrition, increase inflammatory activity, oxidative stress and abnormalities in the hormonal and the vitamin axes and others. There is growing evidence linking sarcopenia to the frailty and functional disability, falls, decreased bone density, glucose intolerance contributes significantly to the morbidity, decrease in quality of life, and health care cost in the elderly. Exercise has been shown to increase strength, aerobic capacity, and muscle protein synthesis, in both young and older people, however, exercise does not reverse all age – related changes, but is a strong tool for maintain the autonomy. In special of the strength and resistence together with adequate nutritional state.


Sujet(s)
Humains , Mâle , Sujet âgé de 80 ans ou plus , Femelle , Sujet âgé , Exercice physique , Vieillissement/physiologie , Amyotrophie , Amyotrophies , Maladies musculaires
14.
Article de Anglais | WPRIM | ID: wpr-123460

RÉSUMÉ

I previously reported the PCR-based Spinal and bulbar muscular atrophy (SBMA) region polymorphisms in the three northeast Asian populations (Chinese, Koreans, Japanese) and Caucasians. Here I update this analysis by including the data of the allele distribution in 378 unrelated individuals from four populations in Asia. In this study I investigated PCR-based CAG repeat polymorphism on the SBMA locus among four Asian populations (Mongolian, Evenki, Orochon, Negrito) and performed the statistical analysis on the eight populations including the previously analyzed data. Both statistical analyses of one-way ANOVA (F=3.284, P=0.002) and Kruskal-Wallis test (chi-square=21.542, DF=7, P=0.003) showed remarkable differences in CAG allele distributions among the populations. Post-hoc test showed that the difference between Negritos and Caucasians was especially significant (Scheffe: P=0.042; Bonferroni: P=0.004). Also a significant differences among Northeast Asians, Caucasians and Negritos (Southeast Asian) were detected by these two tests (ANOVA; F=8.132, P.0.000, Kruskal-Wallis; chi-square=16.614, DF=2, P.0.000). Post-hoc test showed that the differences between Negritos and Caucasias was also especially significant (Scheffe: P=0.001; Bonferroni: P=0.000) among these three groups. These data present that the CAG repeat polymorphism of SBMA gene has a useful information for studies of human population genetics.


Sujet(s)
Humains , Allèles , Asie , Asiatiques , Génétique des populations , Amyotrophies , Répétitions de trinucléotides
15.
Article de Coréen | WPRIM | ID: wpr-725862

RÉSUMÉ

In Orientals, hypertrophy of calves frequently found. In 1990, Mladick and Watanabe presented extensive and specific operative techniques for reduction of calves and ankles. however, they cautioned that liposuction should be restricted in the muscular type of calf because their anatomic characteristics led easily to complications and low satisfaction rate. the chief reason for this problem is due to hypertrophy of lower legs that is caused by muscular hypertrophy. In preoperative considerations for the patient selection, most patients have hypertrophy of the gastrocnemius muscles. Calf muscles composed of the medial, lateral gastrocnemius and soleus muscles. To identify the muscle hypertrophy clinically, the patient should stand on toe-tip posture and check out the pinch test for the measurement of fat thickness. Muscular hypertrophy of the calves is divided into 3 types, such as medial upper half, lateral upper half and total hypertrophy with or without excess fat of lower legs. The indications of calves reduction depends on the excess fat of lower leg, calf muscle hypertrophy and combined excess fat and muscle hypertrophy. The methods of calves reduction are as follows weight control, liposuction, calf muscle resection and combined procedures. But the postoperative results are not as dramatic as abdomen and have low satisfaction rate because there are many postoperative complications, such as surface irregularities, asymmetrical shape, scars with hyperpigmentation and infection. I reported that the neurectomy of medial gastrocnemius muscle is the new ideal method on calf muscle hypertrophy with medial bulging by the contraction of medial gastrocnemius muscle on toe tip stance especially in 1993. Recently this method are popular but the procedure needs expert skill. So muscular disuse atrophy by botox injection to medial gastrocnemius muscle is introduced temporarily. Other method such as muscle reduction by RF, denervation method by RF or alcohol injection to the area near nerve branches to medial gastrocnemius below popliteal fossa are also introduced but they are effected temporarily due to reinnervation of neurotization and neuroma in conduits. The surgical procedure is simple, easy and safe method and it can be done under the local anesthesia with sedation. The transverse incision 2 cm in length was done over the distal crease of popliteal fossa, and divided fascia and exposed the tibial nerve. and identify and confirm the 4 branches of medial gastrocnemius, sural, soleus and lateral gastrocnemius with nerve stimulation by electric current and then the nerve branch to medial gastrocnemius muscle has to be divided and removed above 3 cm in length. Skin closure was done with meticulous hemostasis. The postoperative care is simple. The wound was dressed with mild compression and changed daily. The patients can walk and go home immediately after surgery. We recommended early exercise and wearing the pressure garments to support shrinkage and smooth contouring of medial bulging area on calves during 3 months. The postoperative results are very satisfied from 1 to 3 month and there are no functional deficit and no edema, indurations and irregularity. The calf reduction rate was about 10% shrinkage(34cm in diameter on the superior 1/3 calves portion was reduced to 31cm in diameter, mean reduction is 2.5-3cm in diameter.) due to the muscular atrophy caused by neurectomy of medial gastrocnemius. In this report, I described that neurectomy of nerve branch to medial gastrocnemius muscle is a new ideal method for calf reduction and this procedure induce the superior results than the other procedures on calf muscle hypertrophy with 13 years long term follow up. I think my procedure is more rational and also effective, simple, easy, and safe for significant reduction of calves circumference and improvement of cosmesis on hypertrophy of lower leg.


Sujet(s)
Humains , Abdomen , Anesthésie locale , Cheville , Cicatrice , Dénervation , Oedème , Fascia , Études de suivi , Hémostase , Hyperpigmentation , Hypertrophie , Jambe , Lipectomie , Muscles squelettiques , Muscles , Amyotrophie , Amyotrophies , Transfert nerveux , Névrome , Sélection de patients , Soins postopératoires , Complications postopératoires , Posture , Peau , Nerf tibial , Orteils , Plaies et blessures
16.
Article de Vietnamien | WPRIM | ID: wpr-4048

RÉSUMÉ

Atrophy of thigh muscles always appears when a knee is injured, especially if the injured knee has to be immobilized for a long time. In general, both doctors and patients can find out about atrophy and inccrease fitness of muscles is very important to bring patients and athletes to their works, sport training or performance. At the Vietnam Sport Medicine Center, we are applying the Isokinetic method to help patients reduce rehab duration. Our research: “Recover the fitness of quadriceps on the Isokinetic systems to atrophy cases after knee injuries” show that thigh fitness can fully recover within 6 to 14 days provided that Isokinetic recovery program is applied.


Sujet(s)
Traumatismes du genou , Amyotrophies
17.
Article de Coréen | WPRIM | ID: wpr-60352

RÉSUMÉ

The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2003. Cytogenetic surveys were performed by 33 laboratories and answered correctly in most laboratories except some problems in nomenclature and analysis for FISH and complex cytogenetic abnormalities in neoplasia. The molecular genetic test surveys include M. tuberculosis, HBV, HPV, leukemia/lymphoma, ApoE genotyping, Duchenne muscular dystrophy, myoclonic epilepsy and ragged red muscle fibers, and spinal and bulbar muscular atrophy. HPV, myoclonic epilepsy and ragged red muscle fibers, and spinal and bulbar muscular atrophy were the first challenge of the genetic survey. Molecular genetic survey showed excellent results in most participants, however, HPV tests should be improved by quality control in a few laboratories. External quality assessment program for cytogenetic analysis could be helpful to give participants many chances of continuous education and of interesting case materials.


Sujet(s)
Apolipoprotéines E , Aberrations des chromosomes , Analyse cytogénétique , Cytogénétique , Éducation , Épilepsies myocloniques , Génétique , Corée , Biologie moléculaire , Fibres musculaires à contraction lente , Amyotrophies , Myopathie de Duchenne , Contrôle de qualité , Tuberculose
18.
Article de Coréen | WPRIM | ID: wpr-148102

RÉSUMÉ

PURPOSE: Kidney transplantation is definite treatment in chronic renal failure (CRF). But CRF patients have contracted bladder due to disuse atrophy and fibrosis of bladder mucosa and muscle. Contracted bladder results in CRF itself and failure of transplantation. And this causes many difficulties in ureteroneocystostomy. So many authors suggest that preoperative bladder augmentations of contracted bladder (cystoplasty) using intestine increase success rate in kidney transplantation. But these methods have been usually studied in pediatric transplantation. Preoperative hydrostatic bladder dilatation is nonoperative treatment usually used in interstitial cystitis and hemorrhagic bladder tumor. METHODS: Since January 1996, we newly attempted pretransplant bladder augmentation using hydrostatic pressure in 22 CRF patients who had contracted bladder diagnosed through preoperative voiding cystourethrogram (VCUG). RESULTS: Pre-augmented average bladder volume was 87.7 mL (60~100 mL) and post-augmented bladder volume was 210.5 mL (100~250 mL). There was no complication associated with pretransplant bladder augmentation itself, and there was no transplanted kidney loss. CONCLUSION: These results suggest that pretransplant bladder augmentation using hydrostatic pressure be useful in kidney transplantation of CRF patient who had contracted bladder.


Sujet(s)
Humains , Cystite interstitielle , Dilatation , Fibrose , Pression hydrostatique , Intestins , Rein , Défaillance rénale chronique , Transplantation rénale , Muqueuse , Amyotrophies , Tumeurs de la vessie urinaire , Vessie urinaire
19.
Article de Coréen | WPRIM | ID: wpr-649215

RÉSUMÉ

PURPOSE: Bone density changes of the femoral head in transient synovitis of the hip were investigated by analyzing the PACS pixel value. MATERIALS AND METHODS: Seventy seven patients diagnosed as unilateral transient synovitis of the hip were investigated. Conventional plain anteroposterior (AP) and frog-leg lateral projection films of the hip were studied for pixel value measurements in PACS. The pixel values of the center of femur head, the periphery of femur head, the femur neck, and the intertrochanter of proximal femur were measured. RESULTS: The pixel value ratios for healthy versus involved sites at the center of the femoral head, at periphery of the femur head and at the femur neck were 1:0.967, 1:0.967 and 1:0.967 on AP view, and 1:0.961, 1:0.955 and 1:0.965 on frog-leg lateral view. The relative pixelvalues were maximally decreased around 2 weeks after symptom onset. After 2 months pixel values of the involved side were nearly normal. CONCLUSION: There was a significant decrease in the pixel value of the involved side, which may have been due to disuse atrophy. Also, the pixel value seemed to be useful for quantifying changes of the bone density in transient synovitis of the hip.


Sujet(s)
Humains , Densité osseuse , Fémur , Tête du fémur , Col du fémur , Tête , Hanche , Amyotrophies , Synovite
20.
Article de Coréen | WPRIM | ID: wpr-56805

RÉSUMÉ

UUse of the gastrocnemius muscle flap has proven to be highly effective in reconstruction of knee and lower leg defect due to its easy procedure, anatomical consistency, and less donor site morbidity.The gastrocnemius muscle is anatomically spindle shape, the volume of the distal part of the muscle for coverage is actually quite small and also even smaller when disuse atrophy is accompanied due to trauma. Although the defect is inside flap's arc of rotation, it is out of gastrocnemius muscle flap's indication when the defect size is extensive, and even though the defect is small, it is also out of indication when the defect is a bit out of arc of rotation. There has been a lot of modification to increase the flap's arc of rotation or dimension. However, it is difficult to achieve satisfactory results due to limitation and expense in clinical application. Authors used, for soft tissue reconstruction on broader area, gastrocnemius musculo-adipofascial flap, rather than classical gastrocnemius muscle flap, based on the fascial plexus of gastrocnemius muscle. We obtained a good result in lower extremity reconstruction of 7 cases from March 1999 to July 2000 and report this result with several cases.


Sujet(s)
Humains , Genou , Jambe , Membre inférieur , Muscles squelettiques , Amyotrophies , Donneurs de tissus
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