Assuntos
Sarcoidose , Dermatopatias , Emolientes , Humanos , Pomadas , Pirróis , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológicoRESUMO
BACKGROUND: Woolly hair is a hereditary disorder characterized by fine and tightly curled hair. Autosomal recessive woolly hair (ARWH) was recently determined to result from mutations in either the lipase H (LIPH) or the LPAR6 (P2RY5) gene. CASE REPORT: An 8-year-old boy (proband) and his 11-year-old brother presented with tightly coiled and sparse scalp hair. The boys did not have cardiomyopathy, palmoplantar keratoderma, or facial dysmorphism. Their parents had normal hair growth and no woolly hair. The sequence analysis of their genomic DNA revealed that the proband and his brother had a homozygous mutation of c.736T > A in the LIPH gene. On the basis of these findings, these patients were diagnosed with ARWH. CONCLUSIONS: To the best of our knowledge, only 20 cases of ARWH have been previously reported in Japan. However, several reports showed that one mutation was detected in the 4/200 normal and unrelated alleles in healthy Japanese control individuals, indicating the presence of ARWH in patients with extremely mild symptoms.
Assuntos
Doenças do Cabelo/genética , Cabelo/anormalidades , Lipase/genética , Criança , Doenças do Cabelo/diagnóstico , Homozigoto , Humanos , Masculino , Mutação , Análise de Sequência de DNARESUMO
Autosomal dominant polycystic kidney disease (ADPKD), the most common hereditary disease affecting the kidneys, is caused in 85% of cases by mutations in the PKD1 gene. The protein encoded by this gene, polycystin-1, is a renal epithelial cell membrane mechanoreceptor, sensing morphogenetic cues in the extracellular environment, which regulate the tissue architecture and differentiation. However, how such mutations result in the formation of cysts is still unclear. We performed a precise characterization of mesenchymal differentiation using PAX2, WNT4 and WT1 as a marker, which revealed that impairment of the differentiation process preceded the development of cysts in Pkd1(-/-) mice. We performed an in vitro organ culture and found that progesterone and a derivative thereof facilitated mesenchymal differentiation, and partially prevented the formation of cysts in Pkd1(-/-) kidneys. An injection of progesterone or this derivative into the intraperitoneal space of pregnant females also improved the survival of Pkd1(-/-) embryos. Our findings suggest that compounds which enhance mesenchymal differentiation in the nephrogenesis might be useful for the therapeutic approach to prevent the formation of cysts in ADPKD patients.
Assuntos
Diferenciação Celular/efeitos dos fármacos , Cistos/prevenção & controle , Túbulos Renais/anormalidades , Mesoderma/efeitos dos fármacos , Rim Policístico Autossômico Dominante/prevenção & controle , Progesterona/administração & dosagem , Animais , Cistos/embriologia , Cistos/genética , Dilatação Patológica/embriologia , Dilatação Patológica/prevenção & controle , Feminino , Mesoderma/citologia , Camundongos , Camundongos Mutantes , Rim Policístico Autossômico Dominante/embriologia , Rim Policístico Autossômico Dominante/genética , Gravidez , Canais de Cátion TRPP/genéticaRESUMO
OBJECTIVES: To evaluate the antitumor effect of the coincident administration of intravesical gemcitabine (Gem) plus bacillus Calmette-Guérin (BCG) in an orthotopic bladder cancer model. METHODS: We evaluated the cytotoxic effect of gemcitabine against MBT-2 cells in vitro. Orthotopic tumors were established by implanting MBT-2 cells into the bladder of syngeneic female C3H mice. Intravesical Gem administration was evaluated at various doses: 0 mg (control); 1, 2, 4, and 8 mg (n = 8 for each group). Next, a comparative evaluation of tumor growth among the control, Gem-alone, BCG-alone, and combined Gem + BCG groups was performed (n = 16 for each group). Therapy was administered at 3-day intervals starting on day 5 and repeated 6 times. To evaluate the proliferative activity among the groups, Ki-67 immunostaining of the tumor was performed. RESULTS: Gemcitabine exhibited a dose-dependent antitumor effect. Of the 8 mice in each group treated with a dose of 0, 1, 2, 4, or 8 mg of Gem, 1, 4, 4, 4, 5, and 4 mice failed to develop tumors and survived, respectively. The combination of Gem + BCG (54.1 ± 9.4 days) provided a significant survival advantage compared with BCG-alone (39.0 ± 16.4 days) (P = .02). Ki-67 expression, representing tumor proliferation, was significantly lower in the combined Gem + BCG group than in the BCG-alone group (P < .01). CONCLUSIONS: Our results suggest that intravesical Gem + BCG treatment induces an enhanced antitumor effect against bladder tumors.
Assuntos
Adjuvantes Imunológicos/administração & dosagem , Antimetabólitos Antineoplásicos/administração & dosagem , Vacina BCG/administração & dosagem , Desoxicitidina/análogos & derivados , Neoplasias da Bexiga Urinária/tratamento farmacológico , Administração Intravesical , Animais , Linhagem Celular Tumoral , Desoxicitidina/administração & dosagem , Relação Dose-Resposta a Droga , Feminino , Antígeno Ki-67/análise , Camundongos , Camundongos Endogâmicos C3H , Transplante de Neoplasias , Neoplasias da Bexiga Urinária/patologia , GencitabinaRESUMO
A 74-year-old woman presented with erythema of the extremities, a high fever and arthralgia after being bitten by a rat. The patient was diagnosed as having rat-bite fever based on the symptoms and clinical course, as well as the polymerase chain reaction detection of Streptobacillus moniliformis DNA in the crust of the bite site. This is the first case to be diagnosed using polymerase chain reaction on a crusted skin lesion specimen. Although clinical symptoms initially remitted with minocycline therapy, they relapsed. Subsequent administration of piperacillin sodium resulted in complete disappearance of the high fever and arthralgia.
Assuntos
Reação em Cadeia da Polimerase , Febre por Mordedura de Rato/diagnóstico , Streptobacillus/isolamento & purificação , Idoso , DNA Bacteriano/análise , Feminino , Humanos , Febre por Mordedura de Rato/microbiologia , Pele/microbiologia , Streptobacillus/genéticaRESUMO
OBJECTIVES: We conducted a nationwide multi-center survey using medical record-based data to investigate the relationship between hospital/surgeon volumes and various outcomes, including operative time, volume of blood loss, and incidence of perioperative complications, in radical nephrectomy for renal cell carcinoma. METHODS: We investigated a total of 1704 patients who underwent radical nephrectomy at 461 hospitals in Japan between November 2006 and February 2007. The association between hospital/surgeon volumes and operative time, volume of blood loss, and incidence of perioperative complications were independently analyzed using multivariate regression analysis against age, gender, operation site, cancer stage, serum creatinine levels, comorbid conditions, and surgical technique (open surgery or minimally invasive surgery). RESULTS: Neither hospital volume nor surgeon volume was a significant predictor of operative time or volume of blood loss. We did not identify any association between hospital volume and perioperative complications. High-volume (> 100) surgeons were unlikely to have perioperative complications compared to low-volume (< 20) surgeons, but the relation was not significant (odds ratio, 0.50; 95% confidence intervals, 0.14-1.87; P = 0.30). CONCLUSIONS: Volume-outcome relationships were not confirmed for radical nephrectomy. According to our study, the justification of regionalizing radical nephrectomy to centers of excellence is not yet clear.
Assuntos
Perda Sanguínea Cirúrgica/estatística & dados numéricos , Carcinoma de Células Renais/cirurgia , Competência Clínica/estatística & dados numéricos , Tamanho das Instituições de Saúde , Neoplasias Renais/cirurgia , Nefrectomia/efeitos adversos , Nefrectomia/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nefrectomia/normas , Complicações Pós-Operatórias/epidemiologia , Fatores de TempoRESUMO
INTRODUCTION AND OBJECTIVE: The goal of this study was to evaluate the efficiency of the PlasmaKinetic (PK) system by comparing the preoperative and postoperative results in patients with benign prostate hyperplasia (BPH) treated in this hospital. METHODS: From June 2004 to November 2006, the PK system was utilized for 46 cases of TUR-P in this Hospital. The patients International prostate symptom score (IPSS), QOL score, uroflowmetry, measurement of residual urine amount and ultrasonography were compared before and after the surgery (first month, third month and first year). In addition, the operation times, urethral catheterization times, preoperative and postoperative hemoglobin and serum sodium values of the patients were compared before and after the operations. RESULTS: At 1 and 3 months and 1 year, the IPSS decreased from 28.2 +/- 7.4 to 6.1 +/- 5.9, 2.7 +/- 3.5 and 6.6 +/- 5.3, respectively. The QOL score, decreased from 5.4 +/- 1.0 to 0.9 +/- 1.2, 0.6 +/- 0.9 and 1.3 +/- 1.1, respectively. The maximum urinary flow increased from 3.7 +/- 4.0 ml/s to 19.5 +/- 9.6, 17.9 +/- 7.3 and 18.7 +/- 9.9 ml/s, respectively. The post void residual urine decreased from 104.8 +/- 83.6 ml to 19.4 +/- 25.0, 11.1 +/- 24.7 and 17.9 +/- 28.5 ml, respectively. CONCLUSIONS: Acceptable outcomes with normal recovery from TUR-P were obtained using the PK system.
Assuntos
Eletrocirurgia/instrumentação , Hiperplasia Prostática/cirurgia , Ressecção Transuretral da Próstata/métodos , Idoso , Idoso de 80 Anos ou mais , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Hiperplasia Prostática/fisiopatologia , Qualidade de Vida , Resultado do TratamentoRESUMO
UNLABELLED: Clinical guideline for decontamination of endoscopes in urological field has not been provided, although endoscopic examination should be done in aseptic circumstance. MATERIAL AND METHOD: From decontamination processes, following 3 points were selected for verification: 1) Volume of residual water in flexible scope after rinsing, estimated by weight change. 2) Concentration of eluted disinfectant from flexible scope after standard rinsing procedure for gastrointestinal endoscope. 3) Observation of possible damage of telescope, caused by repeat autoclaving. RESULTS: Wet condition of flexible scope could be suspected in 60 hours in room temperature. Eluted disinfectants were detected, but in harmless level. Repeated autoclaving merely caused minor damage, which does not interfere clinical use. CONCLUSION: We obtained a couple of evidences with cautions in decontamination processes for endoscopes. Urgent requirement of standardization in this field should be discussed widely.
Assuntos
Desinfetantes , Endoscópios/microbiologia , Contaminação de Equipamentos/prevenção & controle , Guias como Assunto , Esterilização , Humanos , Urologia/normas , o-FtalaldeídoRESUMO
BACKGROUND: Langerhans cell histiocytosis affects mainly young children and features an accumulation of CD1a+ dendritic Langerhans cells in the bone, skin, and other organs. A few cases of Langerhans cell histiocytosis on the penis have been reported in the literature. We present a case of Langerhans cell histiocytosis on the penis and review the similar cases in the literature. CASE PRESENTATION: The patient was a 13-year-old boy who had a history of lymph node, femur bone, and pituitary-thalmic axis lesions from Langerhans cell histiocytosis who noticed a painful nodule on the prepuce of his penis. The histological and immunohistochemical examination fulfilled the criteria of Langerhans cell histiocytosis. CONCLUSION: We herein describe the case reported of Langerhans cell histiocytosis on the penis.
Assuntos
Histiocitose de Células de Langerhans/patologia , Doenças do Pênis/patologia , Adolescente , Humanos , MasculinoRESUMO
BACKGROUND: It is difficult to explain ectopic thyroid beneath the diaphragm because during the development the thyroid descends from the tongue to the anterior of the trachea. A few cases of ectopic lesions have been reported in the literature for abdominal organs including the adrenal glands, but the mechanism by which the thyroid components migrate into the abdomen has been poorly understood. CASE PRESENTATION: A 54-year-old woman was diagnosed as having an adrenal mass. Laparoscopic adrenalectomy was carried out. Microscopically, the mass was composed of normal adrenal and ectopic thyroid tissues. CONCLUSION: We herein describe the fourth case reported of ectopic thyroid in the adrenal gland.
Assuntos
Doenças das Glândulas Suprarrenais , Coristoma , Glândula Tireoide , Doenças das Glândulas Suprarrenais/diagnóstico , Doenças das Glândulas Suprarrenais/cirurgia , Coristoma/diagnóstico , Coristoma/cirurgia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Between 2% and 5% of malignant germ-cell tumors in men arise at extragonadal sites. Of extragonadal germ cell tumors, testicular carcinoma in situ (CIS) are present in 31-42% of cases, and CIS are reported to have low sensitivity to chemotherapy in spite of the various morphology and to have a high likelihood of developing into testicular tumors. A testicular biopsy may thus be highly advisable when evaluating an extragonadal germ cell tumor. CASE PRESENTATION: A 36-year-old man was diagnosed as having an extragonadal non-seminomatous germ cell tumor, that was treated by cisplatin-based chemotherapy, leading to a complete remission. In the meantime, testicular tumors were not detected by means of ultrasonography. About 4 years later, a right testicular tumor was found, and orchiectomy was carried out. Microscopically, the tumor was composed of seminoma. CONCLUSIONS: We herein report a case of metachronous occurrence of an extragonadal and gonadal germ cell tumor. In the evaluation of an extragonadal germ cell tumor, a histological examination should be included since ultrasonography is not sufficient to detect CIS or minute lesions of the testis.
Assuntos
Tumor do Seio Endodérmico/tratamento farmacológico , Segunda Neoplasia Primária/etiologia , Seminoma/etiologia , Neoplasias Testiculares/tratamento farmacológico , Neoplasias Testiculares/etiologia , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Bleomicina/administração & dosagem , Cisplatino/administração & dosagem , Etoposídeo/administração & dosagem , Humanos , Masculino , Segunda Neoplasia Primária/diagnóstico por imagem , Segunda Neoplasia Primária/cirurgia , Orquiectomia , Indução de Remissão , Seminoma/diagnóstico por imagem , Seminoma/cirurgia , Neoplasias Testiculares/cirurgia , UltrassonografiaRESUMO
A 77-year-old woman was admitted for a renal biopsy to evaluate a case of nephrotic syndrome. In the course of the examination, a right renal tumor was incidentally found. We performed a right radical nephrectomy in advance of the renal biopsy. Histologically, the tumor was diagnosed as a renal cell carcinoma (clear cell carcinoma) and the non-neoplastic renal cell tissue showed membranous nephropathy (MN). After surgery, the nephrotic syndrome remitted without any further medical treatment and the MN was considered to be a malignancy associated syndrome. There have been few case reports in the literature regarding this association and we wish to describe another case.
Assuntos
Carcinoma de Células Renais/complicações , Glomerulonefrite Membranosa/etiologia , Neoplasias Renais/complicações , Síndrome Nefrótica/etiologia , Idoso , Carcinoma de Células Renais/diagnóstico , Carcinoma de Células Renais/cirurgia , Feminino , Glomerulonefrite Membranosa/cirurgia , Humanos , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Nefrectomia , Síndrome Nefrótica/cirurgiaRESUMO
Autosomal dominant polycystic kidney disease is a systemic disorder that primary affects the kidney which is characterized by the formation of fluid-filled cysts in both kidneys that leads to progressive renal failure. Mutated genes, polycystin-1 and polycystin-2, are identified, and evidence has emerged that polycystins are ion channels or regulators of ion channels. In spite of extensive characterization of polycystins, how polycystin channel signaling may be involved in cyst formation in ADPKD is still unclear. We found a mutant mouse which exhibits polycystic kidney and bone deformity in the course of making a transgenic mouse carrying the Drosophila sex-lethal gene. We identified a mutated gene Makorin1 by positional cloning. Makorin1 carries a typical RING-finger motif, suggesting that Makorin1 belongs to ubiquitinase E3 family. Makorin1 would open a new avenue to understand pathogenesis of polycystic kidney, and become a new therapeutic target of polycystic kidney.
Assuntos
Terapia Genética/métodos , Proteínas de Membrana/genética , Rim Policístico Autossômico Dominante/genética , Proteínas/genética , Ribonucleoproteínas/genética , Animais , Terapia Genética/tendências , Humanos , Canais Iônicos/genética , Camundongos , Camundongos Knockout , Camundongos Mutantes , Mutagênese Insercional , Mutação , Proteínas do Tecido Nervoso , Transdução de Sinais/genética , Canais de Cátion TRPPRESUMO
We established a new renal carcinoma cell line that produces parathyroid hormone-related protein (PTHrP) and interleukin-6 in culture. The cellular production of PTHrP was confirmed by Northern blot analysis and immunofluorescence examination. Bone and lung metastases occurred simultaneously 3.5 years after surgery. The patient did not show hypercalcemia at this time, despite the presence of multiple osteolytic metastases. About 7 months after bone metastasis was first shown, serum PTHrP was detected by means of an immunoradiometric assay and the calcium level was found to be elevated to 3.29 mmol/l. The hypercalcemia was successfully controlled by i.v. administration of bisphosphonates.
Assuntos
Neoplasias Ósseas/secundário , Carcinoma de Células Renais/secundário , Hipercalcemia/diagnóstico , Neoplasias Renais/patologia , Hormônios Peptídicos/biossíntese , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Carcinoma de Células Renais/cirurgia , Difosfonatos/uso terapêutico , Seguimentos , Humanos , Hipercalcemia/tratamento farmacológico , Infusões Intravenosas , Neoplasias Renais/cirurgia , Masculino , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Proteína Relacionada ao Hormônio Paratireóideo , Cintilografia , Medição de RiscoRESUMO
OBJECTIVE: CPT-11 is one of the most widely used camptothecin analogues and is converted to form the active metabolite SN-38. Clinical trials are ongoing to better characterize its spectra of clinical activity, to determine the optimal schedules of administration, and to define the usage in combination with other chemotherapeutic compounds. MATERIALS AND METHODS: KU-MT, an AFP-producing testicular carcinoma cell line, was exposed to SN-38, etoposide, or cisplatin for 24 h, and the resulting cytotoxicity was determined by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazonium bromide (MTT) assay. This paper describes the effects of SN-38 on the cell proliferation and cell cycle of testicular tumor cells in culture. RESULTS: SN-38 was shown to inhibit KU-MT cell growth more potently than either etoposide or cisplatin. A marked decrease in the percentage of S phase cells was accompanied by the enhancement of cyclin E levels. In concentrations of >30 nmol/l, SN-38 arrested the cell cycle in G2 and induced cell death via apoptosis. The apoptosis was promoted by Bax and p53 protein, which were both shown to be present by flow cytometric and Western blot analyses. CONCLUSION: These results suggest that CPT-11, a pro-drug of SN-38, may be clinically useful for the treatment of testicular cancer, and that the mechanism of this agent's cytotoxicity consists of cell cycle arrest and concomitant apoptosis.
Assuntos
Antineoplásicos Fitogênicos/farmacologia , Camptotecina/análogos & derivados , Camptotecina/farmacologia , Ciclo Celular/efeitos dos fármacos , Apoptose/efeitos dos fármacos , Western Blotting , Linhagem Celular , Cisplatino/farmacologia , DNA/efeitos dos fármacos , Etoposídeo/farmacologia , Fase G1/efeitos dos fármacos , Humanos , Marcação In Situ das Extremidades Cortadas , Irinotecano , Masculino , Neoplasias Testiculares , Sais de Tetrazólio , TiazóisRESUMO
We investigated bcl-2 and androgen receptor (AR) expression in an androgen-independent subline derived from mouse androgen-dependent mammary carcinoma cells. The androgen-independent SCAI cells were subcloned by cultivating androgen-dependent SC2G cells in serum-free, androgen-free conditions. The growth of the SCAI cells was not affected by testosterone. Western blot analysis showed greater expression of Bcl-2 protein in SCAI cells than in SC2G cells. A four-day culture with 4 microM antisense oligonucleotide complementary to mouse bcl-2 significantly decreased the viability of SCAI cells, when compared with sense control. The amount of the AR-mRNA expression in SCAI cells was slightly weaker. Direct sequence analysis showed no mutations in the AR of either androgen-dependent or -independent cells. These data indicate that the increased expression of Bcl-2 protein plays an important role in acquiring tolerance for the testosterone ablation, although it is not related to AR gene alteration.
Assuntos
Androgênios/farmacologia , Apoptose/genética , Regulação Neoplásica da Expressão Gênica , Genes bcl-2/genética , Neoplasias Mamárias Animais/fisiopatologia , Proteínas Proto-Oncogênicas c-bcl-2/biossíntese , Receptores Androgênicos/genética , Animais , Apoptose/efeitos dos fármacos , Western Blotting , Feminino , Camundongos , RNA Mensageiro/biossíntese , Receptores Androgênicos/biossíntese , Testosterona/farmacologia , Células Tumorais CultivadasRESUMO
A 69-year-old male patient was diagnosed with right-sided renal cell carcinoma and humoral hypercalcemia of malignancy caused by an excessive production of parathyroid hormone-related protein. The hypercalcemia led to acute tubular necrosis, so the patient had to be put on hemodialysis. The renal failure was accompanied by hyponatremic encephalopathy. Rapid correction of the hyponatremia might have initiated central pontine myelinolysis.