RESUMO
Case 1: A 77-year-old woman had effort angina pectoris. Coronary angiography (CAG) revealed a coronary artery aneurysm on the left descending artery. Coronary artery bypass grafting (CABG) and patch angioplasty for the aneurysm were performed. Case 2 : A 69-year-old woman had effort dyspnea CAG showed dilation of the left main trunk and beaded aneurysms (maximum 6 cm in diameter) behind the ascending aorta with a fistula to the right atrium. We closed the fistula and performed CABG to the circumflex branch. Case 3 : A 78-year-old woman had had general fatigue for 2 weeks. Previous CAG had revealed coronary artery aneurysms and current chest computered tomography revealed pericardial effusion. She was, therefore, diagnosed with the rupture of the coronary artery aneurysm. We closed the coronary artery aneurysm and performed CABG. Case 4: A 55-year-old man had been diagnosed with acute myocardial infarction and had undergone percutaneous coronary intervention 3 years before. CAG revealed a coronary artery aneurysm on the right coronary artery. We resected the aneurysm and interposed with saphenous vein graft. Although coronary artery aneurysm often has no symptoms, in the cases of angina, myocardial infarction, rupture or large aneurysm more than 3 times larger than the normal diameter, surgical repair should be considered.
Assuntos
Aneurisma Coronário/cirurgia , Idoso , Aneurisma Coronário/complicações , Ponte de Artéria Coronária , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
From November 1999 to December 2008, 197 patients with Stanford type A acute aortic dissection underwent the surgical treatment on an emergency basis. In 19 cases, we preserved the severely destroyed aortic root using gelatin-resorcin-formalin (GRF) glue avoiding aortic root replacement. We examined the indication and limitation of repair of the destroyed aortic root. The 19 patients were classified into 3 groups (A, B and C). Group A consisted of 7 patients who had no aortic regurgitation (AR). Group B consisted of 6 patients who had moderate to severe AR. Group C consisted of 6 patients who had coronary involvement. We preserved the broken aortic root in group A and group B. But it seemed to be rather difficult to repair the destroyed aortic root in some cases of group C.
Assuntos
Aneurisma Aórtico/cirurgia , Dissecção Aórtica/cirurgia , Doença Aguda , Idoso , Aorta , Procedimentos Cirúrgicos Cardiovasculares/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
From November 1999 to December in 2005, 114 patients with acute type A aortic dissection underwent surgical treatment on an emergency basis. The overall in-hospital mortality was 7.9% (9 patients). Four were rupture cases before cardiopulmonary bypass. De novo postoperative stroke rate was 3.5% (4 patients). But all of them were discharged on foot. There were 6 rupture cases before operation. Unfortunately only 2 patients survived. Preoperative stroke due to malperfusion occurred in 19 cases (16.7%). Among them, those with clear consciousness had tendency to better social rehabilitation than those with drowsiness. We had experienced 2 vegetable states in the group of drowsiness after the operations. For better outcome, we must avoid rupture before operation and reconsider the timing of operation in the case of brain ischemia.
Assuntos
Aneurisma da Aorta Torácica/cirurgia , Aneurisma Aórtico/cirurgia , Dissecção Aórtica/cirurgia , Implante de Prótese Vascular , Qualidade de Vida , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Dissecção Aórtica/diagnóstico por imagem , Aorta/cirurgia , Aorta Torácica/cirurgia , Aneurisma Aórtico/diagnóstico por imagem , Aneurisma da Aorta Torácica/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Tomografia Computadorizada por Raios XRESUMO
Studying monogenic hereditary disorders that manifest age-related phenotypes in cells, tissues, and the total organism would be helpful for clarifying the mechanisms of aging. In this context, seven human disorders that manifest age-related phenotypes have been found to be caused by aberrations of five proteins with seven helicase motifs conserved in most of the helicases. These disorders are xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, Bloom syndrome, Werner syndrome, X-linked alpha-thalassemia/mental retardation syndrome, and Juberg-Marsidi syndrome. A decline of probably pleiotropic and fundamental function of helicases in these disorders is, therefore, implied to underlie not only the various age-related phenotypes of the disorders but also the pleiotropic and universal nature of ordinary aging. Consistent with this implication, studies of these seven disorders suggest that their various age-related phenotypes are caused by aberrations in multiple processes, especially transcription. Furthermore, a few studies imply some association between aberration of the helicases and phenotypes in ordinary aging.
Assuntos
Envelhecimento/metabolismo , DNA Helicases/metabolismo , Envelhecimento/genética , Síndrome de Bloom/genética , Síndrome de Bloom/metabolismo , Síndrome de Cockayne/genética , Síndrome de Cockayne/metabolismo , DNA Helicases/química , DNA Helicases/genética , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/metabolismo , Mutação , Progéria/genética , Progéria/metabolismo , Síndrome , Síndrome de Werner/genética , Síndrome de Werner/metabolismo , Xeroderma Pigmentoso/genética , Xeroderma Pigmentoso/metabolismo , Talassemia alfa/genética , Talassemia alfa/metabolismoAssuntos
Progéria/genética , DNA Helicases/genética , Genes/genética , Humanos , Mutação , Fenótipo , SíndromeRESUMO
Sustained monomorphic ventricular tachycardia (VT) developed in a 58-year-old man with acute myocardial infarction and end-stage renal disease. Amiodarone was effective in preventing VT recurrence. Sustained VT was not induced during an electrophysiologic study. However, VT recurred during accidental hyperkalemia, which was caused by the change of dialysis therapy from peritoneal dialysis to hemodialysis. VT subsided with correction of hyperkalemia. Thereafter, VT did not recur as long as the serum potassium concentration was kept within the normal range. Several months later, the patient died suddenly because poor dietary compliance resulted in an increase in his potassium concentration. This case suggests that hyperkalemia may reverse the potent antiarrhythmic effects of amiodarone.
Assuntos
Amiodarona/farmacologia , Antiarrítmicos/farmacologia , Hiperpotassemia , Taquicardia Ventricular/tratamento farmacológico , Taquicardia Ventricular/metabolismo , Injúria Renal Aguda/complicações , Injúria Renal Aguda/metabolismo , Amiodarona/uso terapêutico , Antiarrítmicos/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Infarto do Miocárdio/metabolismo , Taquicardia Ventricular/etiologiaRESUMO
MNF1 is a factor which specifically binds to a 318 bp fragment (-1012 to -695) in the 5'-flanking region of the C4-type phosphoenolpyruvate carboxylase gene in Zea mays (Yanagisawa et al., Mol Gen Genet 224 (1990) 325-332). The most preferred binding site of MNF1 determined by a 2 bp mutation-scanning assay was an octamer sequence, GTGCCCTT, which is located within the repeated sequences (RS1; -886 to -849, -846 to -807). Furthermore, a PCR-mediated selection-amplification assay identified both the octamer sequence, GTGCCC(A/T)(A/T), and an additional sequence. CC(G/A)CCC, the latter of which was similar to the Sp1 sites in vertebrates. Specific binding of MNF1 to each of the supposed binding sites was confirmed with double-stranded monomers as probes. Considering native molecular mass of MNF1 (ca. 500 kDa), a protein complex is expected. In addition, MNF1 is anticipated to have two distinct DNA-binding proteins since the MNF1 binding to CCGCCC element was 1,10-phenanthroline-dependent whereas the MNF1 binding to the octamer was independent. Wide distribution of the MNF1 binding sequences within the 1 kb promoter region accounts for broad interactions of MNF1. Moreover, specific DNA binding due to MNF1, which was not observed in the nuclear extract derived from germinated and cultivated plants in darkness, appeared after a white-light pulse. This finding suggests the involvement of the protein complex in the light-dependent transcriptional control in the gene expression.
Assuntos
DNA de Plantas/genética , DNA de Plantas/metabolismo , Proteínas de Ligação a DNA/metabolismo , Genes de Plantas , Fosfoenolpiruvato Carboxilase/genética , Proteínas de Plantas/metabolismo , Zea mays/genética , Zea mays/metabolismo , Sequência de Bases , Sítios de Ligação/genética , Ligação Competitiva , Primers do DNA/genética , Luz , Dados de Sequência Molecular , Zea mays/efeitos da radiaçãoAssuntos
Aromatase/deficiência , Densidade Óssea/efeitos dos fármacos , Estrogênios Conjugados (USP)/uso terapêutico , Osteoporose/tratamento farmacológico , Adulto , Remodelação Óssea/efeitos dos fármacos , Estrogênios Conjugados (USP)/farmacologia , Hormônios Esteroides Gonadais/sangue , Humanos , Masculino , Osteoporose/etiologiaRESUMO
A 70-year-old man, with mild-type myotonic dystrophy (MyD) diagnosed by molecular genetic analysis when he was 68 years old, complained of worsening intermittent claudication during the past 2 years. Doppler examination revealed severe stenosis and obstruction in his leg arteries, which we diagnosed as arteriosclerosis obliterans (ASO). We then found him to be suffering from dementia, which was confirmed by dementia scale tests (Mini Mental State, 20/30; Hasegawas' Dementia Scale-Revision, 15/30). Even in mild-type MyD, as MyD is one of the progeria syndromes, the abnormal genes of MyD may accelerate the aging processes.
Assuntos
Arteriosclerose Obliterante/complicações , Demência/complicações , Distrofia Miotônica/complicações , Idoso , Humanos , Masculino , Distrofia Miotônica/genéticaRESUMO
The goals of this presentation are to review the essential roles of aromatase, estrogens and the estrogen receptor in pubertal growth. Estrogen deficiency due to mutations in the aromatase gene (CYP19) and estrogen resistance due to disruptive mutations in the estrogen receptor gene have no effect on normal male sexual maturation in puberty. However, they lead to absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, continued growth into adulthood and very tall adult stature in both sexes. Gonadotropin and androgen levels are elevated in patients with either estrogen deficiency (aromatase deficiency) or estrogen resistance (estrogen receptor mutation). Glucose intolerance, hyperinsulinemia and lipid abnormalities are also present. Skeletal integrity is compromised. Increased bone turnover, reduced bone mineral density and osteoporosis develop in both sexes. Sexual orientation is appropriate in males and females. In females, aromatase deficiency in the ovary causes pubertal virilization and multicystic ovaries because of elevated gonadotropins and androgens. Simultaneously, secondary sexual maturation fails to occur. Placental aromatase deficiency results in virilization of the mother and her female fetus because of the accumulation of potent androgens which are not converted to estrogens. The male fetus has normal genitalia. In conclusion, estrogens are essential for normal female secondary sexual maturation, bone maturation, epiphyseal fusion, pubertal growth spurt and achievement of normal bone mineral mass. Estrogens also influence insulin sensitivity and lipid homeostasis. However, estrogens do not appear to be essential for fetal survival, placental growth, or female sexual differentiation.
Assuntos
Aromatase/genética , Estrogênios/fisiologia , Mutação , Puberdade , Receptores de Estrogênio/genética , Adulto , Aromatase/fisiologia , Desenvolvimento Ósseo , Epífises/crescimento & desenvolvimento , Feminino , Humanos , Recém-Nascido , Masculino , Receptores de Estrogênio/fisiologiaRESUMO
Werner syndrome (WS) is characterized by the premature occurrence of many age-related features. Before the cloning of the gene for WS (WRN), several reports suggested that transcriptional defects of genes may relate to the mechanisms of the occurrence of WS and natural aging. Because WRN, which encodes a helicase (WRN-H), has been cloned, we are attempting to clarify the mechanism of the transcriptional abnormalities found in WS cells, using WRN and WRN-H. In this article, we studied transcriptional activation of a promoter by WRN-H in a yeast assay system as a first step. The results showed that WRN-H functions as a transcriptional activator in the system. Furthermore, we performed additional transcriptional assays using various parts of WRN to define the critical region of WRN-H for transcriptional activation in yeast. The results revealed the critical region for the activation most likely mapped to the region of 315 to 403 aa. The region of 404 to 1309 aa may also effect activation in the presence of the critical region. The two regions contain an acidic domain, and the region of 404 to 1309 aa also contains a helicase domain. If this transcriptional activation by WRN-H occurs also in human cells in vivo, direct activation of the promoters by WRN-H could explain the results of somatic cell hybrid studies as well as the overexpressed genes detected in WS cells. However, our results should be interpreted with caution, because thus far, the transcriptional activation by WRN-H were only demonstrated using one promoter in a yeast system.
Assuntos
DNA Helicases/fisiologia , Saccharomyces cerevisiae/genética , Transcrição Gênica/fisiologia , DNA Helicases/genética , Exodesoxirribonucleases , Expressão Gênica/fisiologia , Humanos , RecQ Helicases , Helicase da Síndrome de WernerRESUMO
Werner syndrome (WS) is an autosomal recessive genetic disease characterized by many age-related features. The gene responsible for WS (WRN) has been isolated and contains a helicase domain, but its function is unknown. Six different mutations throughout the WRN gene have been reported in the Japanese population. We have studied whether patients with a specific mutation exhibit distinct phenotypes from others. Fourteen patients with different mutations showed almost the same signs and symptoms and, therefore, the C terminal part of the product appears to be crucial for its functions, although other parts may be important as well. Haplotype analyses using 13 microsatellites covering the 2.8-3.0 cM WRN region showed that two out of six different mutations had founder chromosomes. These two founder chromosomes may be evenly distributed throughout the western part of Japan, suggesting that these mutations go back to a time earlier than 1400 years ago.
Assuntos
Genes Recessivos , Síndrome de Werner/genética , Mapeamento Cromossômico , Genótipo , Haplótipos , Humanos , Japão/epidemiologia , Mutação , Linhagem , Fenótipo , Síndrome de Werner/epidemiologiaRESUMO
The psychoendocrinology of the development of normal gender identity and its variations is poorly understood. Studies of gender development in individuals born with endocrinologically well-characterized intersex conditions are heuristically valuable for the disaggregation of factors that are acting in concert during normal development. Four 46,XX individuals with classical congenital adrenal hyperplasia (CAH) and atypical gender identity entered a comprehensive research protocol including systematic interviews and self-report inventories on gender role behavior and identity, sexual history, and psychiatric history. Some of the data on gender variables were compared to data from 12 CAH women with the salt-wasting variant (CAH-SW) with female gender identity. The four patients (ages 28, 35, 38, and 30 years) represented three different subtypes of classical early-onset CAH: 21-OH deficiency, simple virilizing (CAH-SV); 21-OH deficiency, salt-wasting (CAH-SW); and 11-beta-OH deficiency. Their medical histories were characterized by delay beyond infancy or lack of surgical feminization of the external genitalia and progressive virilization with inconsistent or absent glucocorticoid replacement therapy. Although three patients had undergone one or more genital surgeries, all had retained at least some orgasmic capacity. In regard to childhood gender-role behavior, the four gender-change patients tended to be more masculine or less feminine than (behaviorally masculinized) CAH-SW controls. All patients were sexually attracted to females only. The process of gender change was gradual and extended well into adulthood. The most plausible factors contributing to cross-gender identity development in these patients appeared to be neither a particular genotype or endocrinotype nor a sex-typing bias on the part of the parents but a combination of a gender-atypical behavioral self-image, a gender-atypical body image, and the development of erotic attraction to women. Implications for psychosocial management are also discussed.
Assuntos
Hiperplasia Suprarrenal Congênita/fisiopatologia , Desenvolvimento Psicossexual/fisiologia , Caracteres Sexuais , Adulto , Feminino , Humanos , MasculinoRESUMO
Werner syndrome (WRN) is a rare autosomal recessive disorder, one of the progeroid syndromes, and is characterized by features of premature aging. The incidence of WRN in the Japanese population, 1 in 200,000, is higher than than that in the Caucasian population. The genetic defect of WRN is unknown. But genetic linkage to several markers on the short arm of chromosome 8 has been reported recently. Here, we studied one family with WRN in which an affected individual had a papillary thyroid carcinoma and myelodysplastic syndrome. Using 4 microsatellites closely located to the WRN locus: D8S360, D8S1055, D8S339 and ANK1, we analyzed the genotypes of this patient, her three siblings and her parents, who were first cousins. The mutative haplotype, identified through the generations in pedigree, helps detect a carrier or a presymptomatic patient. The eldest sister inherited two normal haplotypes, but the second sister inherited one mutative haplotype. There was no difference in clinical signs and symptoms between these sisters. when the WRN gene is isolated, it will help us understand the mechanism of aging.
Assuntos
Síndrome de Werner/genética , Adulto , Sequência de Bases , Saúde da Família , Feminino , Heterozigoto , Homozigoto , Humanos , Masculino , Repetições de Microssatélites , Dados de Sequência MolecularRESUMO
The aromatase enzyme complex catalyzes the conversion of androgens to estrogens in a wide variety of tissues, including the ovary, testis, placenta, brain, and adipose tissue. Only a single human gene encoding aromatase P450 (CYP19) has been isolated; tissue-specific regulation is controlled in part by alternative promoters in a tissue-specific manner. We report a novel mutation in the CYP19 gene in a sister and brother. The 28-yr-old XX proband, followed since infancy, exhibited the cardinal features of the aromatase deficiency syndrome as recently defined. She had nonadrenal female pseudohermaphrodism at birth and underwent repair of the external genitalia, including a clitorectomy. At the age of puberty, she developed progressive signs of virilization, pubertal failure with no signs of estrogen action, hypergonadotropic hypogonadism, polycystic ovaries on pelvic sonography, and tall stature. The basal concentrations of plasma testosterone, androstenedione, and 17-hydroxyprogesterone were elevated, whereas plasma estradiol was low. Cyst fluid from the polycystic ovaries had a strikingly abnormal ratio of androstenedione and testosterone to estradiol and estrone. Hormone replacement therapy led to breast development, menses, resolution of ovarian cysts, and suppression of the elevated FSH and LH values. Her adult height is 177.6 cm (+2.5 SD). Her only sibling, an XY male, was studied at 24 yr of age. During both pregnancies, the mother exhibited signs of progressive virilization that regressed postpartum. The height of the brother was 204 cm (+3.7 SD) with eunuchoid skeletal proportions, and the weight was 135.1 kg (+2.1 SD). He was sexually fully mature and had macroorchidism. The plasma concentrations of testosterone (2015 ng/dL), 5 alpha-dihydrotestosterone (125 ng/dL), and androstenedione (335 ng/dL) were elevated; estradiol and estrone levels were less than 7 pg/mL. Plasma FSH and LH concentrations were more than 3 times the mean value. Plasma PRL was low; serum insulin-like growth factor I and GH-binding protein were normal. The bone age was 14 yr at a chronological age of 24 3/12 yr. Striking osteopenia was noted at the wrist. Bone mineral densitometric indexes of the lumbar spine (cancellous bone) and distal radius (cortical bone) were consistent with osteoporosis; the distal radius was -4.7 SD below the mean value for age- and sex-matched normal men; indexes of bone turnover were increased. Hyperinsulinemia, increased serum total and low density lipoprotein cholesterol, and triglycerides and decreased high density lipoprotein cholesterol were detected.(ABSTRACT TRUNCATED AT 400 WORDS)
Assuntos
Aromatase/deficiência , Aromatase/genética , Estrogênios/fisiologia , Núcleo Familiar , Mutação Puntual , Adulto , Sequência de Bases , DNA Complementar/genética , Éxons , Feminino , Humanos , Masculino , Sondas Moleculares/genética , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da PolimeraseRESUMO
To evaluate the cardiac dysfunction of the cerebral infarction (cerebral thrombosis) patients in the chronic period, non-invasive studies were performed on 45 cerebral infarction patients (CI group: 25 males and 16 females, mean age 64.1 y). Forty hospitalized patient without cerebral infarction served as controls (non-CI group: 23 males and 19 females, mean age 64.8 y). The CI and non-CI group were divided into two sub-groups: patients with a past history of hypertension (HT) and without (NT). In each sub-group, the cardiac functions were compared between CI and non-CI by M-mode and Doppler echocardiography. In echocardiography, research based on the premise that the function of the left ventricle can be divided into preload (EDVi), afterload (SVR), contractility (EF, mVcf, SBP/ESV) and distensibility (E/A). On results show that there were no significant differences in preload, afterload and contractility of the left ventricle between CI and non-CI group in each HT and NT sub group. However, a significant difference was demonstrated in the diastolic function the left ventricle between the two groups in the HT (p = 0.007) and NT (p = 0.04) sub-groups. In conclusion, left ventricle diastolic function was deteriorated in cerebral infarction patients although systolic function not deteriorated. Because diastolic dysfunction may be caused by existing latent heart failure and/or silent myocardial ischemia, echocardiographic study is useful for early detection of left ventricle impairments in cerebral infarction patients.
Assuntos
Ecocardiografia Doppler , Embolia e Trombose Intracraniana/fisiopatologia , Função Ventricular Esquerda , Idoso , Infarto Cerebral/fisiopatologia , Doença Crônica , Feminino , Humanos , Embolia e Trombose Intracraniana/diagnóstico por imagem , Masculino , Pessoa de Meia-IdadeRESUMO
The outpatient clinic attendance patterns of 115 consecutively referred 10- to 18-year-old suicide attempters and of 110 nonattempters were compared. The two groups did not differ in number of appointments scheduled or missed, but attempters kept significantly fewer appointments than did nonattempters. Seventy-seven percent of each group dropped out of treatment, but attempters dropped out significantly faster. Attendance and dropout were unrelated to age, reason for referral, or previous attempts. Girls missed more appointments than did boys, and Hispanic patients kept a smaller percentage of scheduled appointments than did other ethnic groups. We conclude that adolescent attempters are not more likely to drop out of treatment but keep fewer appointments and remain in care more briefly than do other outpatients. Recommendations for triage and brief case management are made.