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1.
Artigo em Inglês | MEDLINE | ID: mdl-38794936

RESUMO

BACKGROUND: The lips are the transition zone between the facial skin and the oral mucosa and are the site of alterations related to a broad spectrum of etiologies. Squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) are the most prevalent neoplasms affecting lips. This study evaluated the demographic and clinicopathological features of the SCC and BCC in the lip. MATERIAL AND METHODS: A retrospective cross-sectional descriptive study (1994-2019) was carried out. Demographic and clinicopathologic data were collected from a hospital's dermatological service and an oncologic hospital. The data were submitted to descriptive analysis and Pearson's chi-square and Fisher's exact tests (p ≤ 0.05). RESULTS: 417 medical records were analyzed, of which 323 corresponded to SCC (77.5%) and 94 to BCC (22.5%). SCC showed more frequency in males (58.8%) and BCC in females (54.3%). The lower lip was significantly affected in male patients (p < 0.0001) and by both neoplasms (70.6% and 56.4%, respectively; p = 0.014). SCC and BCC were mainly treated with surgery (88.3% and 93.2%, respectively). Surgical margin was frequently negative in SCC and BCC (87%; 72.3%, respectively), and no recurrence was observed in 79.9% of SCC and 69.1% of BCC cases. CONCLUSIONS: SCC was more frequent in male patients, while BCC showed more frequency in female patients. Both neoplasms mainly affect the lower lip. Understanding the epidemiological profile of these lesions in the lip, as well as their etiology and clinical features, is fundamental for appropriate clinical conduct and the creation and/or amplification of preventive measures.

2.
J Transl Med ; 21(1): 814, 2023 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-37968647

RESUMO

BACKGROUND: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and post-COVID condition can present similarities such as fatigue, brain fog, autonomic and neuropathic symptoms. METHODS: The study included 87 patients with post-COVID condition, 50 patients with ME/CFS, and 50 healthy controls (HC). The hemodynamic autonomic function was evaluated using the deep breathing technique, Valsalva maneuver, and Tilt test. The presence of autonomic and sensory small fiber neuropathy (SFN) was assessed with the Sudoscan and with heat and cold evoked potentials, respectively. Finally, a complete neuropsychological evaluation was performed. The objective of this study was to analyze and compare the autonomic and neuropathic symptoms in post-COVID condition with ME/CFS, and HC, as well as, analyze the relationship of these symptoms with cognition and fatigue. RESULTS: Statistically significant differences were found between groups in heart rate using the Kruskal-Wallis test (H), with ME/CFS group presenting the highest (H = 18.3; p ≤ .001). The Postural Orthostatic Tachycardia Syndrome (POTS), and pathological values in palms on the Sudoscan were found in 31% and 34% of ME/CFS, and 13.8% and 19.5% of post-COVID patients, respectively. Concerning evoked potentials, statistically significant differences were found in response latency to heat stimuli between groups (H = 23.6; p ≤ .01). Latency was highest in ME/CFS, and lowest in HC. Regarding cognition, lower parasympathetic activation was associated with worse cognitive performance. CONCLUSIONS: Both syndromes were characterized by inappropriate tachycardia at rest, with a high percentage of patients with POTS. The prolonged latencies for heat stimuli suggested damage to unmyelinated fibers. The higher proportion of patients with pathological results for upper extremities on the Sudoscan suggested a non-length-dependent SFN.


Assuntos
COVID-19 , Síndrome de Fadiga Crônica , Síndrome da Taquicardia Postural Ortostática , Neuropatia de Pequenas Fibras , Humanos , Síndrome de Fadiga Crônica/diagnóstico , Síndrome de COVID-19 Pós-Aguda , COVID-19/complicações , Síndrome da Taquicardia Postural Ortostática/diagnóstico
4.
J Fish Dis ; 39(9): 1027-42, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26813312

RESUMO

The dynamics of disseminated neoplasia (DN) affecting cockles Cerastoderma edule (L.) in Galicia was addressed at individual and population levels. Early stage of DN was characterized by isolated neoplastic cells occurring in branchial vessels or in the connective tissue of gills, mantle, gonad or digestive gland. As disease progressed, the neoplastic cells appeared loose in foci and became widely distributed throughout the organs. In advanced stages, the connective tissue of most organs was infiltrated by neoplastic cells, which displaced normal cells, leading to the loss of the normal tissue/organ architecture. Host defence reaction was occasionally observed. A field survey performed for 7 years, in two cockle beds located in different Galician Rías, showed that DN is a hyperendemic disease usually present all year-round at high prevalence in adult cockles but with annual prevalence minima in spring likely due to the death of heavily affected cockles, concurrently with gonad ripeness-spawning. DN was detected in the cockles ranging from 10 to 39 mm in size; the highest DN prevalence and severity corresponded to the cockles of intermediate size/age (22-29 mm/0.7-1 year old). Sex did not appear to influence DN occurrence. An inhibitory effect of DN on cockle gametogenesis was detected.


Assuntos
Cardiidae/fisiologia , Meio Ambiente , Animais , Estações do Ano , Espanha
5.
Environ Toxicol Pharmacol ; 39(3): 1008-18, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25867686

RESUMO

The present study aimed to investigate the protective effects of luteolin (L), chlorogenic acid (ChlA) and caffeic acid (CafA) against cyto-genotoxic effects caused by OTA. Vero cells and rat lymphocytes were used and viability was measured by neutral red uptake, MTT and trypan blue dye exclusion method. L (50 and 100µg/mL), ChlA (100 and 200µg/mL) and CafA (10-50µg/mL) reduced the damage induced by OTA (10µg/mL) on both cells type shown a good protective effect. The comet and micronucleus tests in Balb/c mice were performed. ChlA (10mg/kg bw) reduced OTA (0.85mg/kg bw)-induced DNA damage on blood and bone marrow cells, CafA (10mg/kg bw) showed protective effect only in blood cells and luteolin (2.5mg/kg bw) failed to protect DNA integrity on cells. In conclusion, polyphenols tested reduced the toxicity caused by OTA on different target cells with good protective effect, being ChlA the compound that showed the best effects.


Assuntos
Antioxidantes/farmacologia , Carcinógenos/toxicidade , Dano ao DNA/efeitos dos fármacos , Ocratoxinas/toxicidade , Polifenóis/farmacologia , Animais , Ácidos Cafeicos/farmacologia , Sobrevivência Celular/efeitos dos fármacos , Chlorocebus aethiops , Ácido Clorogênico/farmacologia , Luteolina/farmacologia , Linfócitos/efeitos dos fármacos , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Especificidade de Órgãos , Ratos , Células Vero
6.
Vox Sang ; 106(1): 83-91, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23869647

RESUMO

BACKGROUND: Postoperative blood loss may be a risk factor for allogeneic blood transfusion (ABT) in patients undergoing subcapital hip fracture (SHF) repair. We investigated the utility and costs of using a low-vacuum reinfusion drain (Bellovac ABT) within a blood management protocol for reducing ABT requirements in consecutive SHF. METHODS: The blood management protocol consisted of the application of a restrictive transfusion trigger (Hb < 8 g/dl), the peri-operative administration of IV iron sucrose (3 × 200 mg/48 h) ± recombinant erythropoietin (1 × 40 000 IU sc) and the use of Bellovac ABT (Group 2, n = 117). An immediate previous SHF series managed without Bellovac ABT served as control (Group 1, n = 138). RESULTS: Overall, 72 out of 255 (28%) received at least one ABT unit (2·1 ± 1·0 U/transfused patient) without differences between groups. However, in the subgroup of patients with admission Hb < 13 g/dl, the use of Bellovac ABT reduced postoperative ABT rates (16% vs. 46%, for groups 2 and 1, respectively; P = 0·001), although only 3 were reinfused, and was cost-saving. The use of Bellovac ABT also resulted in fewer wound bleeding complications, but there were no differences in Hb at postoperative days 7 and 30 between groups. CONCLUSIONS: In SHF patients with admission Hb < 13 g/dl and managed with peri-operative IV iron ± recombinant erythropoietin plus restrictive transfusion indication, the use of Bellovac ABT was associated with reduced ABT requirements, without increasing postoperative complications, and cost-savings.


Assuntos
Transfusão de Sangue/métodos , Fraturas do Quadril/cirurgia , Hemorragia Pós-Operatória/prevenção & controle , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Eritropoetina/administração & dosagem , Feminino , Humanos , Ferro/administração & dosagem , Masculino , Sucção , Vácuo
7.
Artigo em Espanhol, Inglês | LILACS-Express | LILACS | ID: biblio-1052508

RESUMO

Objetivo: Determinar los factores asociados a Multidrogoresistencia en pacientes con Tuberculosis. Materiales y métodos: Estudio analítico, retrospectivo y transversal de casos y controles realizado en 41 pacientes Multidrogorresistentes (casos) y 3 controles por cada caso (Tuberculosis Pulmonar no MDR). Se recolectaron los datos directamente de las historias clínicas y de las fichas empleadas por la DIRESA de Lambayeque. Se realizó el análisis a través del programa estadístico SPSS 13. Resultados: Se encontró que la irregularidad en el tratamiento es un factor de riesgo con OR = 6,857 (IC: 95%, [2,480 - 18,961]). La presencia de comorbilidad mostró un OR = 3,068 (IC: 95%, [1,439 - 6,541]), mientras que el contacto con TB tuvo un OR = 2,119 (IC: 95%, [1,004 -4,472]) y el desempleo un OR = 2,143 (IC: 95%, [1,035 - 4,439]). Conclusiones: La mayor fuerza de asociación para el desarrollo de Multidrogorresistencia corresponde a la irregularidad en el Tratamiento. Además, el desempleo, el contacto con TB y, la presencia de comorbilidad son también factores de riesgo en paciente con TB para desarrollar TB-MD

8.
J Pathol ; 230(2): 154-64, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23620094

RESUMO

DICER1 is an endoribonuclease central to the generation of microRNAs (miRNAs) and short interfering RNAs (siRNAs). Germline mutations in DICER1 have been associated with a pleiotropic tumour predisposition syndrome and Wilms tumour (WT) is a rare manifestation of this syndrome. Three WTs, each in a child with a deleterious germline DICER1 mutation, were screened for somatic DICER1 mutations and were found to bear specific mutations in either the RNase IIIa (n = 1) or the RNase IIIb domain (n = 2). In the two latter cases, we demonstrate that the germline and somatic DICER1 mutations were in trans, suggesting that the two-hit hypothesis of tumour formation applies for these examples of WT. Among 191 apparently sporadic WTs, we identified five different missense or deletion somatic DICER1 mutations (2.6%) in four individual WTs; one tumour had two very likely deleterious somatic mutations in trans in the RNase IIIb domain (c.5438A>G and c.5452G>A). In vitro studies of two somatic single-base substitutions (c.5429A>G and c.5438A>G) demonstrated exon 25 skipping from the transcript, a phenomenon not previously reported in DICER1. Further we show that DICER1 transcripts lacking exon 25 can be translated in vitro. This study has demonstrated that a subset of WTs exhibits two 'hits' in DICER1, suggesting that these mutations could be key events in the pathogenesis of these tumours.


Assuntos
RNA Helicases DEAD-box/genética , Mutação em Linhagem Germinativa , Neoplasias Renais/genética , Ribonuclease III/genética , Tumor de Wilms/genética , Animais , Células COS , Pré-Escolar , Chlorocebus aethiops , Éxons , Feminino , Humanos , Neoplasias Renais/diagnóstico , Masculino , Mutação de Sentido Incorreto , Tumor de Wilms/diagnóstico
9.
Braz. j. med. biol. res ; 45(1): 49-57, Jan. 2012. ilus
Artigo em Inglês | LILACS | ID: lil-610545

RESUMO

Cell transplantation is a promising experimental treatment for spinal cord injury. The aim of the present study was to evaluate the efficacy of mononuclear cells from human umbilical cord blood in promoting functional recovery when transplanted after a contusion spinal cord injury. Female Wistar rats (12 weeks old) were submitted to spinal injury with a MASCIS impactor and divided into 4 groups: control, surgical control, spinal cord injury, and one cell-treated lesion group. Mononuclear cells from umbilical cord blood of human male neonates were transplanted in two experiments: a) 1 h after surgery, into the injury site at a concentration of 5 x 10(6) cells diluted in 10 µL 0.9 percent NaCl (N = 8-10 per group); b) into the cisterna magna, 9 days after lesion at a concentration of 5 x 10(6) cells diluted in 150 µL 0.9 percent NaCl (N = 12-14 per group). The transplanted animals were immunosuppressed with cyclosporin-A (10 mg/kg per day). The BBB scale was used to evaluate motor behavior and the injury site was analyzed with immunofluorescent markers to label human transplanted cells, oligodendrocytes, neurons, and astrocytes. Spinal cord injury rats had 25 percent loss of cord tissue and cell treatment did not affect lesion extension. Transplanted cells survived in the injured area for 6 weeks after the procedure and both transplanted groups showed better motor recovery than the untreated ones (P < 0.05). The transplantation of mononuclear cells from human umbilical cord blood promoted functional recovery with no evidence of cell differentiation.


Assuntos
Animais , Feminino , Humanos , Ratos , Sangue Fetal/citologia , Leucócitos Mononucleares/transplante , Traumatismos da Medula Espinal/cirurgia , Diferenciação Celular , Regeneração Nervosa , Ratos Wistar , Recuperação de Função Fisiológica , Transplante Heterólogo
10.
Braz J Med Biol Res ; 45(1): 49-57, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22183246

RESUMO

Cell transplantation is a promising experimental treatment for spinal cord injury. The aim of the present study was to evaluate the efficacy of mononuclear cells from human umbilical cord blood in promoting functional recovery when transplanted after a contusion spinal cord injury. Female Wistar rats (12 weeks old) were submitted to spinal injury with a MASCIS impactor and divided into 4 groups: control, surgical control, spinal cord injury, and one cell-treated lesion group. Mononuclear cells from umbilical cord blood of human male neonates were transplanted in two experiments: a) 1 h after surgery, into the injury site at a concentration of 5 x 10(6) cells diluted in 10 µL 0.9% NaCl (N = 8-10 per group); b) into the cisterna magna, 9 days after lesion at a concentration of 5 x 10(6) cells diluted in 150 µL 0.9% NaCl (N = 12-14 per group). The transplanted animals were immunosuppressed with cyclosporin-A (10 mg/kg per day). The BBB scale was used to evaluate motor behavior and the injury site was analyzed with immunofluorescent markers to label human transplanted cells, oligodendrocytes, neurons, and astrocytes. Spinal cord injury rats had 25% loss of cord tissue and cell treatment did not affect lesion extension. Transplanted cells survived in the injured area for 6 weeks after the procedure and both transplanted groups showed better motor recovery than the untreated ones (P < 0.05). The transplantation of mononuclear cells from human umbilical cord blood promoted functional recovery with no evidence of cell differentiation.


Assuntos
Sangue Fetal/citologia , Leucócitos Mononucleares/transplante , Traumatismos da Medula Espinal/cirurgia , Animais , Diferenciação Celular , Feminino , Humanos , Masculino , Regeneração Nervosa , Ratos , Ratos Wistar , Recuperação de Função Fisiológica , Transplante Heterólogo
11.
Acute Card Care ; 13(3): 164-9, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21877876

RESUMO

BACKGROUND: The incidence of contrast-induced nephropathy (CIN) after percutaneous coronary intervention (PCI) is increasing. The aim of the study is to assess the benefits of prophylactic haemofiltration (PHF) in patients with high risk of developing CIN after PCI. METHODS: 20 patients who underwent PHF after PCI in the context of acute coronary syndrome were selected retrospectively and compared with 20 matched controls with similar risk characteristics. The main variable analysed was the appearance of CIN and the secondary variables were the development of acute clinical kidney failure, heart failure, therapeutic HF and mortality. RESULTS: The baseline characteristics were similar in both groups, with reference creatinine of 2.4 ± 1.3 mg/dl, contrast used 392 ± 213 cc and Mehran score of 21.9 ± 5.2 in the PHF group, as opposed to values of 2.0 ± 0.6 mg/dl, 368 ± 126 cc and 20.2 ± 6.9 respectively in controls. The incidence of CIN was of 6 patients (30%) in the PHF group and 13 patients (65%) in the control group (P=0.03). There were no significant differences in the rest of the variables studied. CONCLUSION: Haemofiltration after PCI may be an effective strategy for the prevention of CIN in patients at high risk of developing it.


Assuntos
Síndrome Coronariana Aguda/diagnóstico por imagem , Síndrome Coronariana Aguda/terapia , Meios de Contraste/efeitos adversos , Angiografia Coronária/efeitos adversos , Hemofiltração/métodos , Nefropatias/prevenção & controle , Idoso , Angioplastia Coronária com Balão/efeitos adversos , Estudos de Casos e Controles , Creatinina/sangue , Feminino , Humanos , Nefropatias/sangue , Nefropatias/induzido quimicamente , Masculino , Espanha , Resultado do Tratamento
12.
Oral Dis ; 15(7): 472-7, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19522745

RESUMO

OBJECTIVE: The aim of this study was to evaluate and compare the expression of metalloproteinases-1, -2, and -9 in solid ameloblastoma and adenomatoid odontogenic tumor. METHODS: A total of 20 cases of solid ameloblastoma and 10 cases of adenomatoid odontogenic tumors were selected and immunohistochemically assessed. Metalloproteinases-1, -2, and -9 immunoexpression and their distribution pattern were noted and semiquantitatively scored. The scores obtained were statistically analyzed. RESULTS: Matrix metalloproteinase (MMP)-1 showed a predominant expression in both tumors and was found in stroma and parenchyma. For MMP-2, there was a varied expression, with 80% and 60% of immunoreactive tumor cells in ameloblastoma and adenomatoid odontogenic tumor respectively. Regarding stromal cells, 65% of ameloblastomas and 80% of adenomatoid odontogenic tumors showed positivity. There was immunoexpression of the MMP-9 in parenchymal and stromal cells in all cases of both tumors analyzed. A statistically significant difference in the expression of MMP-1 in relation to the expression of MMP-2 and -9 in ameloblastomas (P < 0.001) was observed. CONCLUSION: The results suggest that these metalloproteinases are related to growth and progression of tumors analyzed, and particularly in ameloblastoma, its highest aggressiveness may be, in part, a result of the active participation of the stromal cells and their products, such as the MMPs studied.


Assuntos
Ameloblastoma/metabolismo , Metaloproteinase 1 da Matriz/biossíntese , Metaloproteinase 2 da Matriz/biossíntese , Metaloproteinase 9 da Matriz/biossíntese , Tumores Odontogênicos/metabolismo , Humanos , Imuno-Histoquímica
13.
Arch Soc Esp Oftalmol ; 81(7): 383-9, 2006 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-16888691

RESUMO

PURPOSE: To show the utility of optic coherence tomography (OCT) in the follow up of the idiopathic intracranial hypertension (IIH) in childhood. METHODS: Three girls, aged between 4 and 11 years, were diagnosed and subsequently followed with the help of OCT for an episode of idiopathic intracranial hypertension. All of them had presented with non-specific symptoms such as visual disturbance, headache, stomach ache, and in one case diplopia and torticolis. Brain imaging studies were normal, however lumbar puncture found an elevated intracranial pressure. Visual fields were tested using Octopus automated perimetry and the optic nerve fiber layer (ONF) was measured by OCT at each of the attendances. RESULTS: The visual acuity was normal in all cases, but two girls had evidence of an abducens nerve palsy. Fundus biomicroscopy revealed marked papilledema. The thickness of the ONF was increased 2-3 times over normally expected levels. The follow up and the treatment with prednisone and azetazolamide was monitored by OCT, with a good outcome and return of the ONF levels to normal. In one case, however, a recurrence was detected after three months without treatment. CONCLUSION: IIH in childhood is an uncommon condition, often with a different presentation from what is seen in teenagers and adults. OCT is a useful technique helping in both the diagnosis and the follow-up of this disorder in children (Arch Soc Esp Oftalmol 2006; 81: 383-390).


Assuntos
Papiledema/diagnóstico , Papiledema/etiologia , Pseudotumor Cerebral/complicações , Tomografia de Coerência Óptica , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos
14.
Eur Respir J ; 25(1): 104-9, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15640330

RESUMO

The aim of this study was to assess the expression of several metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) in exudative pleural effusions, and their relationship with inflammatory and fibrinolytic mediators in parapneumonic effusions. The study included 51 parapneumonic effusions (30 empyema or complicated parapneumonic, 21 noncomplicated parapneumonic), 28 tuberculous, 30 malignant and 30 transudates. Inflammatory markers (tumour necrosis factor-alpha, interleukin-8, polymorphonuclear elastase), fibrinolytic system variables (tissue plasminogen activator (PA), urokinase PA (u-PA), plasminogen activation inhibitor (PAI)-1, PAI-2), and several MMPs (MMP-1, MMP-2, MMP-8, MMP-9) and TIMPs (TIMP-1, TIMP-2) were determined by ELISA in plasma and pleural fluid. Elevated MMP-2 and TIMP-1 concentrations were observed in all the pleural fluid samples studied. The group of empyema or complicated parapneumonic effusions showed higher MMP-1, MMP-8 and MMP-9 concentrations than the remaining exudates. There was no correlation between MMP and TIMP levels in plasma and pleural fluid in this group of effusions. In parapneumonic effusions, MMP-1, MMP-8 and MMP-9 showed a positive correlation with the inflammatory markers and with u-PA and PAI-1. Moreover, there was a relationship between MMP-8 concentration in pleural fluid and pleural thickening at the end of treatment. In conclusion, elevated metalloproteinase-1, -8 and -9 expression was found in parapneumonic pleural effusions. These metalloproteinases could be implicated in the local inflammatory response existing in this group of effusions.


Assuntos
Mediadores da Inflamação/análise , Metaloendopeptidases/análise , Derrame Pleural/diagnóstico , Derrame Pleural/enzimologia , Inibidor Tecidual de Metaloproteinase-1/análise , Inibidor Tecidual de Metaloproteinase-2/análise , Estudos de Coortes , Empiema Pleural/diagnóstico , Empiema Pleural/enzimologia , Exsudatos e Transudatos , Feminino , Humanos , Mediadores da Inflamação/metabolismo , Masculino , Metaloendopeptidases/metabolismo , Derrame Pleural Maligno/diagnóstico , Derrame Pleural Maligno/enzimologia , Prognóstico , Medição de Risco , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Inibidor Tecidual de Metaloproteinase-1/metabolismo , Inibidor Tecidual de Metaloproteinase-2/metabolismo , Tuberculose Pleural/diagnóstico , Tuberculose Pleural/enzimologia
15.
J Invertebr Pathol ; 78(2): 87-97, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11812111

RESUMO

A survey of pathological conditions affecting cockle populations of the most economically important natural beds of Galician estuaries in NW Spain was performed. Samples of 30 adult cockles were collected from each of 34 natural beds in the spring of 1999 and processed by histological techniques. Disseminated neoplasia were seen in samples from most of the natural beds, in some cases with a high prevalence. The gregarine Nematopsis sp., larval trematode stages, and branchial extracellular large cysts enclosing bacteria-like microorganisms were the most prevalent parasites. Paravortex cardii, intracellular colonies of rickettsiae-like organisms in digestive and gill epithelium, Pseudoklossia sp. coccidians, Trichodina sp., and other ciliates were frequently seen in the samples. Copepods in gills and intestine and unidentified gregarines in intestine epithelia and surrounding connective tissue were less prevalent and were observed in samples of some natural beds. Large foci of heavy hemocytic infiltration were detected in a few sites only. Cysts of Steinhausia sp. and plasmodia and spores of a haplosporidian were seen in cockles from two localities. Inflammation was frequently observed in the samples. Some of the parasites and pathological conditions could be associated with mortality.


Assuntos
Infecções Bacterianas/veterinária , Moluscos/parasitologia , Neoplasias/veterinária , Doenças Parasitárias/epidemiologia , Doenças dos Animais/epidemiologia , Animais , Neoplasias/epidemiologia , Prevalência , Espanha
17.
Am J Hum Genet ; 67(6): 1598-604, 2000 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11047756

RESUMO

Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype without kidney involvement have been described. The clinical presentation and histological features of polycystic liver disease in the presence or absence of ADPKD are indistinguishable, raising the possibility that the pathogenetic mechanisms in the diseases are interrelated. We ascertained two large families with polycystic liver disease without kidney cysts and performed a genomewide scan for genetic linkage. A causative gene, PCLD, was mapped to chromosome 19p13.2-13.1, with a maximum LOD score of 10.3. Haplotype analysis refined the PCLD interval to 12.5 cM flanked by D19S586/D19S583 and D19S593/D19S579. The discovery of genetic linkage will facilitate diagnosis and study of this underdiagnosed disease entity. Identification of PCLD will be instrumental to an understanding of the pathogenesis of cyst formation in the liver in isolated PCLD and in ADPKD.


Assuntos
Cromossomos Humanos Par 19/genética , Cistos/genética , Cistos/patologia , Genes Dominantes/genética , Hepatopatias/genética , Hepatopatias/patologia , Adulto , Mapeamento Cromossômico , Cistos/complicações , Feminino , Haplótipos/genética , Humanos , Hepatopatias/complicações , Escore Lod , Masculino , Linhagem , Doenças Renais Policísticas/complicações , Doenças Renais Policísticas/patologia
18.
Dig Dis Sci ; 44(2): 385-8, 1999 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10063927

RESUMO

Autosomal dominant polycystic liver disease occurs commonly in association with autosomal dominant polycystic kidney disease, types 1 and 2. It may also exist as a separate entity, genetically distinct from autosomal dominant polycystic kidney disease types 1 and 2, as has been recently established to exist in a Belgian family. We report here a large Argentinian family of Spanish-Belgian ancestry with autosomal dominant polycystic liver disease, where proximal and distal markers for both polycystic kidney disease 1 and 2 failed to demonstrate genetic linkage. The data support the notion that polycystic liver disease and autosomal dominant polycystic kidney disease may have separate chromosomal loci.


Assuntos
Cistos/genética , Hepatopatias/genética , Doenças Renais Policísticas/genética , Adulto , Idoso , Argentina , Bélgica/etnologia , Feminino , Genes Dominantes , Ligação Genética , Humanos , Masculino , Linhagem , Espanha/etnologia
20.
Prenat Diagn ; 17(8): 777-9, 1997 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9267904

RESUMO

Chorionic villus sampling (CVS) and amniocentesis were performed on a pregnant woman during her 24th week of amenorrhoea following an ultrasound scan which showed a fetus with hydrocephaly, intrauterine growth retardation (IUGR), and a single umbilical artery. The direct karyotype from the cytotrophoblast was non-mosaic 47,XXX,+16, while in amniotic fluid and several fetal tissues, studied post-mortem, a normal 46,XX karyotype was found in more than 400 cells. Uniparental disomy (UPD) was excluded by molecular genetic studies. Autopsy confirmed the echographic findings; in addition, agenesis of the corpus callosum and polysplenia were observed. This is the second example of congenital abnormality associated with confined placental mosaicism (CPM) for trisomy 16, without evidence of either UPD or an apparent contribution of abnormal cells to the fetus.


Assuntos
Cromossomos Humanos Par 16 , Anormalidades Congênitas/genética , Placenta , Trissomia , Ultrassonografia Pré-Natal , Adulto , Amniocentese , Amostra da Vilosidade Coriônica , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/genética , Idade Gestacional , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Mosaicismo , Gravidez , Artérias Umbilicais/diagnóstico por imagem
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