Juvenile Huntington's disease in northern Brazil: a case series report / Doença de Huntington juvenil no norte do Brasil: relato de uma série de casos

Introduction: Huntington's disease (HD) is a neurodegenerative disorder caused by CAG expansion repeats in the HTT gene. Usually, the symptoms start to manifest in mid-adulthood. In about 5% of cases, however, the signs begin before the age of 20 years. These cases are known as juvenile HD (JHD). Objective: here we report a case series of JHD from Amazonas, a state where data are scarce due to the restricted access to specialized medical assistance for diagnosis and care. Case series: the patients were attended by neurologists specialized in movement disorders at Manaus. Two cases manifested the disease in childhood (6 and 7 years old) and two cases, in adolescence (12 and 16 years old). All cases showed dystonia and parkinsonism as predominant motor disorders. Moreover, signs of cognitive decline, depression, and psychosis were observed in all patients. Conversely, cerebellar signs, gait disturbances, seizures, and some psychiatric symptoms were variable among the cases. Expansion size varied from 66 to 84 to CAG repeats and the difference in age at onset between parent and child varied from 23 to 43 years. Conclusion: to our knowledge, these are the first clinical reports of JHD in northern Brazil. These cases illustrate the variability in clinical phenotypes and genetic features of JHD cases. Furthermore, they can contribute to the awareness of HD here, both by professionals and the public in general.

Introdução: a doença de Huntington (DH) é um distúrbio neurodegenerativo causado pela expansão de repetições CAG no gene HTT. Geralmente, os sintomas começam a se manifestar na vida adulta tardia. Em cerca de 5% dos casos, no entanto, os sinais começam antes da idade de 20 anos. Esses casos são conhecidos como DH juvenil (DHJ). Objetivo: neste estudo, nós reportamos uma série de casos de DHJ do Amazonas, um estado onde os dados ainda são escassos devido ao acesso restrito à assistência médica especializada para o diagnóstico e cuidado. Série de casos: os pacientes foram atendidos por neurologistas especializados em transtornos do movimento em Manaus. Dois casos manifestaram a doença na infância (6 e 7 anos) e dois casos, na adolescência (12 e 16 anos). Todos os casos apresentaram distonia e parkinsonismo como sintomas motores predominantes. Sinais de declínio cognitivo, depressão e psicose também foram observados em todos os pacientes. Por outro lado, sinais cerebelares, distúrbios da marcha, convulsões e alguns sintomas psiquiátricos foram variáveis entre os casos. O tamanho da expansão CAG variou de 66 a 84 repetições e a diferença na idade de início dos sintomas entre pais e filhos variou de 23 a 43 anos. Conclusão: ao nosso conhecimento, estes são os primeiros relatos clínicos da DHJ na região Norte. Esses casos ilustram a variabilidade nos fenótipos clínicos e nas características genéticas dos casos de DHJ. Além disso, eles podem contribuir para a conscientização da DH na região, tanto pelos profissionais quanto pelo público geral.

Sartre e a psicanálise existencial: apontamentos sobre o caso Jean G / Sartre and existential psychoanalysis: notes on the case Jean G

Este artigo pretende compreender a noção de psicanálise existencial, tal como proposta por Jean-Paul Sartre em O ser e o nada, em sua relação com as estruturas ontológicas do Para-si e também com a biografia sobre o escritor Jean Genet, escrita por Sartre. Veremos que se trata de realizar, por meio de um método elaborado na psicanálise existencial, aquilo que a ontologia descreve, mas é, por si própria, incapaz de realizar: a compreensão de uma pessoa (Genet, no caso do artigo) em sua relação específica com os outros e com as facticidades do mundo.

This article intends to understand the notion of existential psychoanalysis, as proposed by Jean-Paul Sartre in The Being and Nothingness, in its relation with the ontological structures of the Being-for-itself and also with the biography about the writer Jean Genet, written by Sartre. We will see that it is about realizing, through a method elaborated in existential psychoanalysis, what the ontology describes, but is itself incapable of realizing: the understanding of a person (Genet, in the case of the article) in his specific relation with the others and with the facticities of the world.

Notas acerca da dimensão fálica do gozo na homossexulidade masculina / Notes about the phallic dimension of the orgasm in male homosexuality / Notas acerca de la dimensión fálica del goce en la homosexualidad masculina

Sendo fálica toda lógica sexual, é mister verificar a exclusão do Outro gozo, dito feminino, ao que não resta, sob o discurso sexual, possibilidade de relação, dado o privilégio do Mesmo. O amor homossexual, não obstante, insiste, vinculando, no sexo masculino, mãe e criança, por meio da eleição de objeto narcísica, que projeta o ideal materno sobre o parceiro, enquanto subverte a lógica das identificações. Com o intuito de situar o papel do falo no interior da dinâmica homossexual de relação, orienta-se este artigo, por meio da revisão da teoria freudo-lacaniana sobre o tema, para o estudo do caso de Jean Genet. Genet descreve, em seu Diário de um ladrão, um funcionamento que ilustra o mecanismo da inversão, que parte do tema do amor do próprio rival e avança pelo rebaixamento da insígnia fálica à condição de fetiche, desvelando a particularidade da arquitetura do estilo homossexual de desejar.

Once all the sexual logic is phallic, it becomes necessary to verify the exclusion of the Other orgasm, known as feminine, and consequently, under the sexual discourse, the possibility of relation, given the privilege of the Same. Notwithstanding, homosexual love, insists, attaching mother and child in male sex, through the election of a narcissistic object, that projects maternal ideal on the partner, while subverting the logic of identifications. In order to situate the role of the phallus inside the homosexual dynamics of relationship, this article is guided by a theoretical freudo-lacanian review of that theme, towards the study of Jean Genet’s case. Genet describes in his The thief ’s journal an operation that illustrates the mechanism of inversion, from the theme of love for the rival itself, to that of the relegation of the phallic insignia to the condition of fetish, unveiling the particularity of the architecture of the homosexual style of desire

Siendo fálica toda lógica sexual, es menester verificar la exclusión del Otro goce, dicho femenino, al que no resta, bajo el discurso sexual, posibilidad de relación, dado el privilegio del Mismo. El amor homosexual, sin embargo, insiste, vinculando, en el sexo masculino, madre y niño, por medio de la elección de objeto narcísico, que proyecta el ideal materno sobre el compañero, mientras subvierte la lógica de las identificaciones. Con el propósito de situar el papel del falo en el interior de la dinámica homosexual de relación, se orienta este artículo, por medio de la revisión de la teoría freud-lacaniana sobre el tema, para el estudio del caso de Jean Genet. Genet describe en su Diario del ladrón un funcionamiento que ilustra el mecanismo de la inversión, que parte del tema del amor del propio rival y avanza por el descenso de la insignia fálica a la condición de fetiche, desvelando la particularidad de la arquitectura del estilo homosexual de desear.

Genet Variation of Ectomycorrhizal Suillus granulatus Fruiting Bodies in Pinus strobus Stands

The genets of Suillus granulatus in a Pinus strobus stand (13 m × 60 m) were identified using random amplified polymorphic DNA molecular markers and the DNA of mushrooms that fruited for two years, and variations in genet size and distribution were analyzed. From a total of 116 mushrooms, 73 genets were identified and were grouped into three locations. The genets of mushrooms in close proximity differed from each other. The genet sizes varied at any of the three locations. The lengths of the identified genets in the pine stand ranged from 0.09 to 2.90 m. The average number of mushrooms per genet was 1.2 to 2.3, and the percentage of genets that were represented by a single mushroom was 44% to 94%. This variation in the genets of mushrooms in close proximity suggests that the ectomycorrhizal mycelial bodies of S. granulatus propagated sexually by fusing haploid spores derived from the mushrooms gills with below-ground mycelia. Therefore, it is necessary further to investigate the formation of new genets through spores in ectomycorrhizal fungal colonies.

O método biográfico em Sartre: contribuições do existencialismo para a psicologia / The biographical method in Sartre: exististential contributions to psychology

A crise epistemológica da psicologia no início do século XX, por estar cindida entre as perspectivas objetivistas e subjetivistas, passou a exigir do meio científico aportes teóricos para a sua superação. A fenomenologia forneceu elementos filosóficos e metodológicos para estabelecer a crítica ao psicologismo e elaborar a possibilidade de novas perspectivas para a disciplina. Sartre, por ela influenciado, assim como pelo marxismo, constituiu uma concepção histórica e dialética que está no cerne da proposição de uma psicologia existencialista. Em especial, o método biográfico, por ele implementado, tem muito a contribuir para a construção de uma metodologia para a psicologia que supere a dicotomia objetivismo/ subjetivismo e possibilite a construção da disciplina em novos parâmetros. Neste artigo são explicitados os pressupostos teórico-metodológicos do método biográfico em Sartre, sendo discutida sua aplicação prática realizada no livro Saint Genet: comédien et martyr

The epistemological crisis in psychology at the start of the twentieth century, torn as it was between objectivist and subjectivist perspectives, began to demand from the scientific world a theoretical contribution in order to overcome this impasse. Phenomenology provided philosophical and methodological elements in order to establish a critique of psychologism, and to open the way to the development of new perspectives in this field. Sartre, thus influenced, and inspired by Marxism, elaborated a historical and dialectic concept which forms the core of the theory of existentialist psychology. In particular, the biographical method which he implemented contributed greatly to a method of psychology which goes beyond objectivism/subjectivism and allows for the development of the field within new parameters. In this article, the fundamental theory-methodologies of Sartre’s biographical method are explained. I also discuss their practical application in his book, Saint Genet: comédien et martyr

Artemisinins regulate apoptosis genes of neoplasm / 国际中医中药杂志

Artemisinin and its derivatives,which are known as traditional antimalarial drugs,have anticancer activities by inhibiting cell proliferation,inducing apoptosis of tumor cells,and resisting angiogenesis,etc.The activity of inducing apoptosis has become high-light for studies recently.Most scholars believed this activity was obtained by increasing apoptosis-inducing genes(Bax),decreasing anti-apoptosis genes(Survivin,Bcl-2),and regulating two-ways controlling genes,and finally led to the distinctive morphological changes.

Expression of the partial protein encoded by mutated COL4A5 gene and analysis of the structure by circular dichroism / 北京大学学报(医学版)

T mutation resulting in p.G1015V from an X linked Alport patient, and that of corresponding cDNA from a control were expressed in E.coli. The recombinant and mutant polypeptide was a fragment of COL4A5 , containing 158 amino acid residues with a glycine to valine substitution mutation in it. The secondary structure of the two recombinant proteins was analyzed using circular dichroism(CD) spectroscopy. Results: CD spectra of the control exhibited a negative peak near 200 nm whereas that of the patient exhibited a negative peak near 220 nm. The magnitude of the negative peak of the patient decreased as compared with that of the control. Furthermore, secondary structure of the control polypeptide was mainly composed of ? sheet and random coil without ? helix, whereas that of the patient presented 12.9% ? helix. Conclusion: Not only local structure of the substitution site but also folding kinetics of the entire ?5 chain may be changed due to Gly→Val substitution in Alport syndrome. We speculate that the abnormally folded polypeptide chain may not be assembled into the triple helix and the network of type Ⅳ collagen, or may be assembled into loosen triple helix then degraded easily, resulting in the pathognomonic ultrastructural changes of the glomerular basement membrane.

Biologic function of p21~(WAF1/CIP1) gene and its association with carcinogenesis / 北京大学学报(医学版)

p21 WAF1/CIP1 gene is known for a most important cell cycle regulator as well as its roles in apoptosis and differentiation. This review focuses on p21 WAF1/CIP1 gene functions and its association with carcinogenesis. Better understanding of the structure and function of p21 WAF1/CIP1 gene may help to comprehend molecular mechanisms of cancers and to facilitate diagnosis and treatment of malignancy.

G protein ?_3 subunit C825T polymorphism and essential hypertension in Chinese / 北京大学学报(医学版)

Objective:To study the relationship between G protein ? 3 subunit ( GNB3 )C825T variant and plasma renin angiotensin system(RAS) activity in Chinese essential hypertensive patients. Methods: Case control method was used. For 408 essential hypertensive patients who were enrolled in the trial groups, we chose 140 normotensives as control group 1 and 61 health persons with hypertensive familial history as control group 2, respectively. PCR-RFLP method was used to measure the C/T polymorphism. The results were observed by agarose gel eletrophoresis. Results: The frequencies of 825T allele were 45.6% to 56.4% in the three groups. Neither GNB3 genotype distribution nor the frequency of T allele was associated with essential hypertension. But patients with TT genotype had higher aldosterone level and lower angiotensin converting enzyme (ACE) activity than patients with CC genotype. Conclusion:In Chinese, patients with TT genotype had higher aldosterone level and lower angiotensin converting enzyme (ACE) activity.

Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families / 北京大学学报(医学版)

Objective: To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families. Methods: Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations. Results: Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported. Conclusion: Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.

Association studies of dopamine D_4 receptor gene and dopamine transporter gene polymorphisms in Han Chinese patients with attention deficit hyperactivity disorder / 北京大学学报(医学版)

Objective: To investigate association of the 48 bp variable number of tandem repeat (VNTR) polymorphism in the D 4 receptor gene ( DRD4 ) exon 3 and 40 bp VNTR polymorphism in the dopamine transporter gene ( DAT1 ) 3′ untranslated region with attention deficit hyperactivity disorder (ADHD) in Han Chinese children. Methods: The study samples were comprised of 340 ADHD children, 226 unrelated controls and 202 integrated ADHD trios (included proband and biological parents). The polymorphisms consisted of 48 bp VNTR in exon 3 of DRD4 , and 40 bp VNTR in the 3′ untranslated region of DAT1 . Associations of polymorphisms with ADHD and its subtypes were examined by: (i) comparing cases and controls; and (ii) using family based association study in an extension of exact transmission disequilibrium test (ETDT) and haplotype based haplotype relative risk (HHRR). Results: The repeat numbers at the DRD4 48 bp locus ranged from 2—6 repeats in the Han Chinese controls, with the most common being the 4 repeat (77%) and 2 repeat (19.4%) alleles. Neither the 7 repeat allele nor longer repeats were found. For the DAT1 , the repeat numbers at the 40 bp locus ranged from 6—7 repeats and 9—11 repeats. The 10 repeat allele was the most frequent (90.7%). The long repeat alleles of DRD4 (ranging from 4—6 repeats) and DAT1 (ranging from 11—12 repeats), were present more frequently in ADHD probands than in controls. Our primary analyses failed to replicate the associations between ADHD and 7 repeat allele of DRD4 and the 10 repeat allele of DAT1 . Conclusion: The long repeat alleles of DRD4 (after a stratification by gender) and DAT1 may increase the risk for ADHD in Han Chinese children.

Clinical pathology and molecular genetics on familial amyloidotic polyneuropathy / 北京大学学报(医学版)

75%). Immunoglobulin ? and ? chains as well as TTR positive deposits were not demostrated in the accumulated amyloid material. There was neither TTR nor apolopoprotein A1 coding gene mutation detected in the proband and her son. Conclusion: The pathological findings demonstrated existence of a FAP. However, the immuno pathological and genetic results could not classified the type of this FAP family. Further genetic studies are required to identify it.

Expression of Fas, FasL and IFN-? in gastric cancer / 北京大学学报(医学版)

Objective: To study the expression of Fas, Fas ligand (FasL) and IFN ? in gastric cancer and its possible significance. Methods: Fifty eight gastric paraffin wax embedded cancer tissues and fifty three normal tissues adjacent gastric cancer were tested for the expression of Fas and FasL protein by immunohistochemistry and IFN ? mRNA by in situ hubridisation respectively. Results: The positive rate of Fas in cancer cells of gastric cancer tissues was significantly lower than that in gastric epithelial cells of the tissues adjacent cancer(19.0% and 64.2%, respectively; ? 2=23.46, P = 0.00). The positive rate of FasL in cancer cells of gastric cancer tissues was significantly higher than that in gastric epithelial cells of the tissues adjacent cancer(63.8% and 45.3%,respectively; ? 2=3.83, P =0.05). The positive rate of IFN ? in cancer cells of gastric cancer tissues was significantly lower than that in gastric epithelial cells of the tissues adjacent cancer(0.0% and 49.1%,respectively; ? 2=37.16, P =0.00). Conclusion: The Fas-FasL system was unbalanced, and the expression of IFN ? was low in gastric cancer cells in this study. These may be related to the carcinogenesis of gastric epithelial cells and might be responsible for the immune escape of these cells.

Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients / 北京大学学报(医学版)

Objective: To analyze the mutations of BRCA1 in 9 Chinese familiar breast cancer patients. Methods: Peripheral blood samples were obtained from 9 patients enrolled from 9 breast cancer families, one normal control, 32 sporadic breast cancer patients and 33 normal donors. DNA extracted from lymphocytes was amplified by polymerase chain reaction (PCR). The 22 exons and partial introns of BRCA1 were screened by PCR denaturing high performance liquid chromatography (PCR-DHPLC) and confirmed by direct sequencing. Results: Among these 9 familiar breast cancer patients, a deleterious mutation was detected in one case in exon 11 (3870delTGTC) which was a 4 base deletion and caused a frameshift in turn. One novel and unique amino acid substitution (E867R) was detected in one case. Eight patients were detected to have a known variation in intron 18 (IVS18+65G→A), and the ratio of this variation detected was 88.9%(8/9). The ratio of this variation was 37.5%(12/32) in sporadic breast cancer patients or 33.3%(11/33) in normal control. This variation was found to be accompanied all the time with a known missense variation in exon 11 (P871L) and a polymorphism in intron 9 (IVS8 57delT). Those three variants were also detected in homozygous in one case, which implies the linkage of the 3 sites. The linkage had not been reported. Two patients had been found with a known polymorphism in exon 13 (S1436S). Another known polymorphism was found in one case (L771L). In addition, intronic variants (IVS2+48C→T, IVS2+133C→T, IVS12+112C→A) were detected. Conclusion: The mutations of BRCA1 in Chinese familiar breast cancer patients are different from the hot spots reported in Caucasian and Jewish. It is important that further study be conducted to seek for specific mutations of this gene or other possible relevant genes in Chinese familiar breast cancer patients.

Expression and its clinical significance of RhoC mRNA in human primary hepatocellular carcinoma / 中国普通外科杂志

Objective To study the expression of RhoC mRNA in human primary hepatocellular carcinoma(PHCC) and paracarcinoma liver(PCL) tissues .Method Reverse transcription polymerase chain reaction(RT-PCR) was used to detect the expression of RhoC mRNA in the PHCC and PCL tissue of 30 patients with PHCC. Results The opacity density (OD)of RhoC mRNA expression in PHCC tissues was significantly higher than that in PCL tissures(P

Expression of transforming growth factor-?_1 in the chronic pancreatitis tissue: Pathogenesis of chronic pancreatitis / 中国普通外科杂志

Objective To study the effect and significance of transforming growth factor-?_1(TGF-?_1), and TGF-?_1mRNA in the pathogenesis of chronic pancreatitis. Methods The expression and distribution of TGF-?_1, and TGF-?_1mRNA in the pancreatic tissue in different stage of the pathogenesis of chronic pancreatitis were studied with immunohistochemical SP staining, in situ hybridization,and reverse transcription-polymerase chain reaction on the canine model of chronic pancreatitis . Results The Expression of TGF-?_1 and TGF-?_1mRNA were found in fibrotic tissues, fibroblasts, macrophages and endothelial cells of blood vessels.The expression of TGF-?_1 and TGF-?_1mRNA were high and lasting in the pathogenesis of chronic pancreatitis. Conclusions High expression of TGF-?_1 is closely related to the fibroblast proliferating activity, extracellular matrix overdeposition and proceeding fibrosis of pancreas.

Expression and significance of smad_4mRNA,TGF-?_1 ,and TGF-?R_1 in pancreatic carcinoma / 中国普通外科杂志

Objective To study the significance of expressions of smad_4mRNA,TGF-?_1, and TGF-?R_1 in pancreatic carcinoma(PC) . Methods Smad_4mRNA was detected by in situ hybridization. TGF-?_1 and TGF-?R_1 were detected by immunohistochemical method. Results The positive rates of smad_4mRNA,TGF-?_1 and TGF-?R_1 were singnificantly lower in 53 slices of pancreatic carcinoma than those in 25 slices of paracancerous tissue (all P

Study on loss of heterozygosity of SMAD2 in primary gastric carcinoma / 中国普通外科杂志

Objective To investigate the role of loss of heterozygosity (LOH) of SMAD2 and its relationship with clinicopathological parameters of primary gastric carcinoma. Methods Fifty cases of primary gastric carcinoma were monitored by polymerase chain reaction -single strand conformation polymorphism (PCR- SSCP) and silver staining to detect SMAD2 LOH. Results The incidence of LOH was 40.0%(22/45) at D18S450 and 33.3%(16/48)at D18S460 . LOH occurred in SMAD2 was 55.1%(27/49).The rate of SMAD2 LOH was 72.0% (18/25) in primary gastric carcinoma with lymph node metastasis , which was significantly higher than that in without lymph node metastasis (P

Significance of the expression of glutameta decarboxylase 65 and protein kinase C in primary hepatocarcinoma tissues / 中国普通外科杂志

Objective To study the clinicopathological significance of the expression of glutameta decarboxylase 65(GDA65) and protein kinase C(PKC) in the central cancer tissues, cancer edge tissues, paracancerous liver tissue and non-cancer liver tissues. Methods The expression of GDA65 and PKC were detected by immunohistochemical method in 10% neutral formalin- fixed and routinely paraffin-embedded sections in 37 hepatic cancer specimen. Results The positive rate and the score of GDA65 and PKC in the cancer tissues were significantly higher than that in the paracancer tissues or non-cancer liver tissues, but the PKC expression was no difference between the central cancer tissues and the cancer edge tissues . The expression of GDA 65 was related to the pathological types, differentiated degrees, liver cirrhosis or metastasis of hepatocarcinomas. No correlation was found between the expression of PKC and the clinicopathological features of hepatocarcinomas. Conclusions The expression of GDA65 and PKC might be closely related to the carcinogenesis of hepatocarcinoma, they might be important biological markers of hepatocarcinoma.

Construction of retroviral vector inserted SV40 large T antigen gene and its expression in rat hepatocytes / 中国普通外科杂志

Objective To construct the retroviral vector inserted SV40 large T antigen gene and transfect it into rat hepatocytes, analyze the status of SV40 large T antigen gene expression in rat hepatocytes, and to establish important basis for clinical hepatocytes transplanation. Methods Retroviral vector inserted SV40 large T antigen gene was(constructed) by DNA recombinant techniques in vitro, then the combinant vector was determined with enzyme(digestion) and sequencing and was transfected into the PA317 cell lines by liposome mediation and screened(anti-G4)18 positive clones. The viral titer was determined with the NIH3T3. After transfected into separated and purified rat primary hepatocytes, the SV40 large T antigen gene expression was detected by PCR and immunohistochemical (methods). Results (1)SV40 large T antigen gene fragment was inserted into retroviral vector in sense orientation. (2)The titer of pseudovirion packed by PA317 cell lines was 1.3?10~6CFU/ml. (3)SV40LT antigen gene was(integrated) into rat primary hepatocytes and its expression in transfected cells at 24 hour was higher than 96 hour (P