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1.
Eur Rev Med Pharmacol Sci ; 12(3): 183-90, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18700690

RESUMEN

Coronary artery disease (CAD) represents the primary cause of death in Western Countries with an high incidence on human health and community social costs. Oxidative stress induced by reactive oxygen species (ROS) plays an important role in the aetiology of this disease. In particular, the LDL-oxidization has a key role in the pathogenesis of atherosclerosis and cardiovascular heart diseases through the initiation of plaque formation process. Dietary phytochemical products such antioxidant vitamins (A,C,E) and bioactive food components (alpha- and beta-carotene) have shown an antioxidant effect in reducing both oxidative markers stress and LDL-oxidization process. Scientifical evidences support the beneficial roles of phytochemicals in the prevention of some chronic diseases. Lycopene, an oxygenated carotenoid with great antioxidant properties, has shown both in epidemiological studies and supplementation human trials a reduction of cardiovascular risk. However, controlled clinical trials and dietary intervention studies using well-defined subjects population haven't been provided a clear evidence of lycopene in the prevention of cardiovascular diseases. The present short review aims to evaluate the beneficial effect of lycopene in the prevention of cardiovascular disease.


Asunto(s)
Antioxidantes/administración & dosificación , Enfermedades Cardiovasculares/prevención & control , Carotenoides/administración & dosificación , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiología , Carotenoides/química , Carotenoides/farmacología , Suplementos Dietéticos , Humanos , Licopeno , Estrés Oxidativo
2.
Curr Med Chem ; 14(18): 1966-77, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17691939

RESUMEN

Cysteinyl leukotrienes (Cys-LTs) are potent proinflammatory mediators derived from arachidonic acid through the 5-lypoxigenase (5-LO) pathway. They exert important pharmacological effects by interaction with at least two different receptors: Cys-LT(1) and Cys-LT(2). By competitive binding to the Cys-LT(1) receptor, leukotriene receptor antagonist drugs such as montelukast, zafirlukast, and pranlukast, block the effects of Cys-LTs and alleviate the symptoms of many chronic diseases, especially bronchial asthma and allergic rhinitis. Evidence obtained by randomized clinical trials as also by direct experience derived from patients suffering from asthma and allergic rhinitis justifies a broader role for leukotrienes receptor antagonists (LTRAs). Recently published studies and case reports have demonstrated beneficial effects of LTRAs on other diseases commonly associated with asthma (exercise induced asthma, rhinitis, chronic obstructive pulmonary disease, interstitial lung disease, chronic urticaria, atopic dermatitis, allergic fungal disease, nasal polyposis, and paranasal sinus disease) as well as other diseases not connected to asthma (migraine, respiratory syncytial virus postbronchiolitis, systemic mastocytosis, cystic fibrosis, pancreatitis, vulvovaginal candidiasis, cancer, atherosclerosis, eosinophils cystitis, otitis media, capsular contracture, and eosinophilic gastrointestinal disorders). The aim of this review is to show the most recent applications and effectiveness in clinical practice of the LTRAs.


Asunto(s)
Antiasmáticos/uso terapéutico , Asma/tratamiento farmacológico , Antagonistas de Leucotrieno/uso terapéutico , Leucotrienos/metabolismo , Rinitis/tratamiento farmacológico , Antiasmáticos/efectos adversos , Antiasmáticos/farmacología , Araquidonato 5-Lipooxigenasa/metabolismo , Ácido Araquidónico/metabolismo , Enfermedad Crónica/clasificación , Enfermedad Crónica/tratamiento farmacológico , Cisteína/metabolismo , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Humanos , Antagonistas de Leucotrieno/efectos adversos , Antagonistas de Leucotrieno/farmacología , Resultado del Tratamiento
3.
Clin Ter ; 158(4): 363-70, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17953289

RESUMEN

Bronchial asthma represents the commonest chronic respiratory disease in industrialized countries and its prevalence is increasing throughout the world. This is a chronic inflammatory disease in which the inflammation constitutes an important predisposing condition for airway remodelling and secondary irreversible airflow obstruction. The current approach for the treatment involves many classes of drugs, particularly anti-inflammatory such inhaled and oral corticosteroids and cysteinyl-leukotriene receptor antagonist. The pharmacology of drugs used in asthma represents an important factor that conditioning the effectiveness of therapy. In fact, many studies have demonstrated that some asthmatic patients have particular problems that deserve special treatment. Another important factor of asthma treatment is represented by delivery devices for the inhalation of medications and their correct use because, at the present, it is estimated that compliance to controller anti-asthmatic therapy is no more than 50%. The aim of this review is to focus on the compliance in the treatment of asthma and the use of antiinflammatory therapies with inhaled corticosteroids and leukotriene receptor antagonist drugs.


Asunto(s)
Corticoesteroides/administración & dosificación , Antiasmáticos/administración & dosificación , Antiinflamatorios/administración & dosificación , Asma/tratamiento farmacológico , Antagonistas de Leucotrieno/administración & dosificación , Cooperación del Paciente , Administración por Inhalación , Humanos , Nebulizadores y Vaporizadores
4.
Eur Rev Med Pharmacol Sci ; 3(6): 261-3, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-11261737

RESUMEN

The authors report their data on 344 cases of small-cell lung cancer treated according to indications with combined chemoradiotherapy and in selected cases with surgical intervention. In patients with limited disease, the results of pharmacologic therapy significantly improve the prognosis only in association with surgery. The role of surgery has been reappraised in the treatment of small-cell lung cancer which appears, nowadays, multidisciplinary.


Asunto(s)
Carcinoma de Células Pequeñas/cirugía , Carcinoma de Células Pequeñas/terapia , Neoplasias Pulmonares/cirugía , Neoplasias Pulmonares/terapia , Terapia Combinada , Humanos , Pronóstico
5.
Hepatogastroenterology ; 46(25): 508-13, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10228852

RESUMEN

Cystic neoplasms of the pancreas constitute about 9% of all cystic lesions of the pancreas and less than 1% of all pancreatic neoplasms. Authors report the case of a 70 year-old woman with microcystic cystadenoma. Computed tomography (CT) scan of the abdomen diagnosed a 5 cm multilocular septated cyst, with calcifications in the context, localized in the head-uncinate process of the pancreas. The mass was well separated by a sharp cleavage plane with portal vein and superior mesenteric vessels. An endoscopic retrograde cholangiopancreatography (ERCP) showed cephalic symmetrical stenosis (diameter: 3 mm) of the main pancreatic duct (MPD), mildly dilated in the remaining tract (diameter: 6 mm). An intra-operative biopsy of the cystic wall had been performed. Therefore, it was decided to proceed with a duodenum-preserving resection of the head of the pancreas (DPPHR), including stenosis tract of the MPD in the surgical specimen. The reconstructive procedure consisted, by i.v. jejunal loop transposition, of a side-to-side pancreatico-jejunostomy, including in the anastomosis both corpocaudal stump and the resection cavity of the pancreatic head, and an end-to-side Roux-en-Y jejuno-jejunostomy. With respect to long-lasting pain relief and preservation of the endocrine and exocrine functions of the pancreas, duodenum-preserving resection of the head of the pancreas is a highly effective surgical procedure with low early and late morbidity and mortality due to limited surgical resections. This technique, introduced into surgical practice in 1972 by Beger, is indicated in patients with chronic pancreatitis with an inflammatory mass in the head of the pancreas. The authors conclude that this procedure can also be performed in cases of pancreatic benign tumors, such as microcystic cystadenoma. Advantages of this technique make DPPHR an attractive alternative to pylorus-preserving pancreatico-duodenectomy (PPPD).


Asunto(s)
Cistoadenoma/cirugía , Pancreatectomía/métodos , Neoplasias Pancreáticas/cirugía , Anciano , Colangiopancreatografia Retrógrada Endoscópica , Cistoadenoma/diagnóstico por imagen , Femenino , Humanos , Neoplasias Pancreáticas/diagnóstico por imagen , Tomografía Computarizada por Rayos X
6.
Hepatogastroenterology ; 45(24): 2404-9, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9951932

RESUMEN

The authors report the complex case of a 51 year-old man admitted to his local hospital for gallbladder and common bile duct lithiasis, 1 year before admission to our hospital. There, he was treated by cholecystectomy and transduodenal biliary sphincteroplasty. He was readmitted after 3 months because of a painful episode and was discharged with the diagnosis of "relapsing acute pancreatitis in chronic pancreatitis." At our hospital, he underwent laparotomy and revision of the previous transduodenal biliary sphincteroplasty. Pancreatic sphincteroplasty and septectomy were also performed. The night after surgery, the patient suffered from acute post-operative pancreatitis complicated by severe hemorrhage due to erosion of the superior pancreaticoduodenal arteries, treated with gastroduodenal artery embolization by tungsten coils. Three months later, the patient suffered from another acute episode. An endoscopic retrograde colangio pancreatography (ERCP) showed the complete patency of the sphincteroplasties but clearly identified the persistence of a severe cephalic stricture. Therefore, the patient was readmitted to our hospital and underwent another laparotomy. A pylorus-preserving pancreaticoduodenectomy (PPPD) was performed. The post-operative course was uneventful and at 14 months follow-up the patient was in good health. The discussion focuses on the surgical treatment of chronic pancreatitis with cephalic Wirsung duct stenosis, stressing the increasing role of PPPD as a first-choice option.


Asunto(s)
Pancreaticoduodenectomía/métodos , Pancreatitis/cirugía , Colangiopancreatografia Retrógrada Endoscópica , Colestasis/cirugía , Enfermedad Crónica , Duodeno/irrigación sanguínea , Duodeno/cirugía , Embolización Terapéutica , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Páncreas/irrigación sanguínea , Páncreas/cirugía , Conductos Pancreáticos/diagnóstico por imagen , Conductos Pancreáticos/cirugía , Pancreaticoduodenectomía/mortalidad , Pancreatitis/diagnóstico , Readmisión del Paciente , Recurrencia , Resultado del Tratamiento
7.
Minerva Chir ; 53(10): 857-63, 1998 Oct.
Artículo en Italiano | MEDLINE | ID: mdl-9882981

RESUMEN

Cystic neoplasms of the pancreas constitute about 9% of all cystic lesions of the pancreas and less than 1% of all pancreatic neoplasms. The case of a 70 years-old woman with microcystic cystadenoma is reported. CT-scan of the abdomen diagnosed a 5 cm multilocular septated cyst, with calcifications in the context, localized in the head-uncinate process of the pancreas. The mass was well separated by a sharp cleavage plane with portal vein and superior mesenteric vessels. An ERCP showed cephalic symmetrical stenosis (diameter 3 mm) of the main pancreatic duct (MPD), mildly dilated in the remaining tract (diameter 6 mm). An intraoperative biopsy of the cystic wall was performed. Therefore, it was decided to proceed with a duodenum-preserving resection of the head of the pancreas (DPPHR), including the stenosis tract of the MPD in the surgical specimen. The reconstructive procedure consisted, by i.v. jejunal loop transposition, in a side-to-side pancreatico-jejunostomy, including in the anastomosis both corpocaudal stump and the resection cavity of the pancreatic head, and an end-to-side Roux-en-Y jejuno-jejunostomy. With respect to long-lasting pain relief and preservation of the endocrine and exocrine functions of the pancreas, DPPHR is a highly effective surgical procedure with a low early and late morbidity and mortality due to limited surgical resection. This technique, introduced into surgical practice by Beger, is indicated in patients with chronic pancreatitis with an inflammatory mass in the head of the pancreas. The authors conclude that this procedure can be performed also in case of pancreatic benign tumors, as microcystic cystadenoma. Advantages of this technique makes DPPHR an attractive alternative to Pylorus-Preserving-Pancreatico-Duodenectomy (PPPD).


Asunto(s)
Cistoadenoma/cirugía , Neoplasias Pancreáticas/cirugía , Anciano , Anastomosis en-Y de Roux , Colangiopancreatografia Retrógrada Endoscópica , Cistoadenoma/diagnóstico , Femenino , Humanos , Neoplasias Pancreáticas/diagnóstico , Pancreaticoduodenectomía , Pancreatoyeyunostomía , Tomografía Computarizada por Rayos X
8.
Chir Ital ; 52(1): 41-7, 2000.
Artículo en Italiano | MEDLINE | ID: mdl-10832525

RESUMEN

This retrospective study compares recurrence and postoperative complication rates after isthmo-lobectomy and subtotal thyroidectomy (group I) vs near-total and total thyroidectomy (group II) for benign thyroid disease. Seven hundred and forty-three patients were operated on for thyroid diseases over the period from 1977 to 1998. We considered 202 patients operated on for benign thyroid disease from 1988 to 1998. The follow-up ranged from 1 to 10 years (mean: 3.4 yrs). One hundred and thirty-two patients (65.3%) were operated on for bilateral nodular goitre, 35 (17.3%) for unilateral nodular goitre, 14 (6.9%) for toxic goitre and 21 (10.4%) for thyroiditis. Over the period 1988-1992, 19 patients underwent isthmo-lobectomy and 71 subtotal thyroidectomy (group I). From 1993 to 1998, 39 patients underwent near-total thyroidectomy and 61 total thyroidectomy (group II). The relapse rate was 14.4% in group I, while there were no recurrences in group II (p = 0.000064). Temporary hypocalcaemia was significantly higher (p = 0.000001) in group II (29%) than in group I (2.2%). Within group II, the rate was significantly higher (p = 0.0013) after total thyroidectomy (37.7%) than after near-total thyroidectomy (15.4%). In our experience, near-total and total thyroidectomy are an appropriate approach for preventing recurrence in patients with benign thyroid disease despite the fact that the risk of temporary hypocalcaemia is higher than after less radical surgery. Near-total thyroidectomy and the exercise of all due care in the surgical technique may help to reduce its incidence.


Asunto(s)
Enfermedades de la Tiroides/cirugía , Tiroidectomía , Adulto , Anciano , Femenino , Estudios de Seguimiento , Bocio/cirugía , Bocio Nodular/cirugía , Enfermedad de Graves/cirugía , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias , Recurrencia , Estudios Retrospectivos , Tiroiditis/cirugía , Factores de Tiempo
9.
Ann Ital Chir ; 69(1): 49-62, 1998.
Artículo en Italiano | MEDLINE | ID: mdl-11995039

RESUMEN

Authors report their own experience on the treatment of pancreatic neoplasms. Two-hundred-ninety-four patients were observed during the years 1959-95. Resectability rate was 18%. Fifty-three patients underwent pancreatic resection: 22 distal pancreatectomies (41.5%), 2 total pancreatectomies (3.7%) and 29 pancreaticoduodenectomies (54.7%) (7 PPPD). Overall morbidity rate was 15.6% with decrease during the years of major postoperative complications. More frequent complications were renal failure (4%), bleeding (1.7%) and acute pancreatitis (5.6%), which was absent during the 1981-95 period. Pancreatic fistula occurred in 5.6%, but in the years 1981-95 only one patient suffered from it (1.8%). During the years 1959-70 operative mortality rate after pancreatic resection was 22.7%, during 1971-80 was 12.5% and during 1981-95 decreased to 4.3%. Patients with stage I tumours survived curative pancreatic resection for about 18.2 months, compared with those with stage II and III tumours, who survived for about 15 and 13 months, respectively. Recent studies have demonstrated a reduction in the morbidity and mortality of pancreatic resections and improvement in the actuarial 5-year survival for patients with resected ductal adenocarcinoma. In the presence of lymphnode metastases, pancreaticoduodenectomy offers good palliation and meaningful survival. In the absence of lymphnode metastases, pancreaticoduodenectomy offers encouraging long-term survival rates and a chance for cure.


Asunto(s)
Pancreatectomía , Neoplasias Pancreáticas/cirugía , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/epidemiología , Estudios Retrospectivos
10.
Ann Ital Chir ; 69(2): 185-93, 1998.
Artículo en Italiano | MEDLINE | ID: mdl-9718787

RESUMEN

At least two thirds of patients with pancreatic cancer are still unsuitable for resection, because of the extent of their disease or because of their high-risk conditions. In these cases, a palliative treatment is indicated to maximize the quality of life, in spite of the poor prognosis. During the years 1959-95, two-hundred-ninety-four patients, affected with pancreatic neoplasm, were observed. Resectability rate was 18%. One-hundred patients underwent surgical palliation (34%): 58 biliary-bypasses, 15 gastroenterostomies and 27 double-bypasses. Sixty-nine explorative laparotomies were performed (23.4%), of which thirty-six were carried out during the years 1959-70. Sixty-three patients did not undergo surgical treatment (21.6%), of which twenty-two underwent percutaneous biliary drainage, during the years 1981-95. Overall morbidity rate was 13% with decrease during the years of major postoperative complications. During the years 1959-70 operative mortality rate after surgical bypass was 13.6%, during 1971-80 was 10.5% and during 1981-95 decreased to 8.1%. Major percentages were reported after explorative laparotomies. During the years 1959-70 and 1971-80, operative mortality rate was 16.6%, compared with 9.5% during the years 1981-95. Patients with stage II tumours survived palliative surgery for about 12.8 months, compared with those with stage III and IV tumours, who survived for about 10.6 and 5 months, respectively. Patients who did not undergo surgical treatment survived 8.3, 4 and 1.3 months, respectively in II-III and IV stages. In this paper the authors examine advantages and disadvantages of palliative procedures, on the bases of their aims: relief of obstructive jaundice, duodenal obstruction and pain.


Asunto(s)
Cuidados Paliativos/métodos , Pancreatectomía/métodos , Neoplasias Pancreáticas/cirugía , Anciano , Colestasis/etiología , Colestasis/terapia , Obstrucción Duodenal/etiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/complicaciones , Neoplasias Pancreáticas/mortalidad , Neoplasias Pancreáticas/patología , Estudios Retrospectivos , Tasa de Supervivencia
11.
Ann Ital Chir ; 73(2): 197-209; discussion 209-10, 2002.
Artículo en Italiano | MEDLINE | ID: mdl-12197294

RESUMEN

AIM: The purpose of this retrospective review of the charts of 51 Jehovah's Witness patients, who underwent surgery without blood transfusions, was to compare two study groups (major surgery vs minor-medium surgery). METHODS: We compared the following variables: age, sex, length of stay, type of surgical operation, use of intraoperative red cell salvaging devices, hemodilution, number of drainages and their stay, postoperative blood loss, complications, need of reoperation and mortality rate. Between medical variables we focused on blood production therapy and nutritional support (administration of iron, folate, erythropoietin and albumin) and blood tests (at the first day of admission; intraoperative; at the first postoperative day; at the discharge). RESULTS: In the two study groups, we detected statistically significant differences in the following variables: total of postoperative blood loss (p < 0.00001), complications rate (p = 0.0122) and in Hgb values (intraoperative: p = 0.0197; at the first postoperative day: p = 0.0028; at the discharge: p = 0.0100). DISCUSSION: The aims of a bloodless surgery program are: 1) minimize blood loss, reducing iatrogenic anemia and intraoperative hemorrhage loss; 2) maximize blood production by administration of erythropoietin, iron and folate; 3) maximize cardiac output by alternatives to blood transfusions, as crystalloids, colloids and blood substitutes; 4) increase oxygen content; 5) decrease metabolic rate. We focused on advantages and disadvantages of the suggested procedures. Most interesting techniques are the normovolemic hemodilution and the intraoperative red cell salvaging devices, indispensable in emergency. CONCLUSIONS: A close team-work between surgeons, anesthesiologists and hematologists is determinant in a reference center that guarantees experience, organization, professionality, respect for the patients' will and, above all, low morbidity and mortality rates, as those reported by our series.


Asunto(s)
Anemia/prevención & control , Pérdida de Sangre Quirúrgica/prevención & control , Sustitutos Sanguíneos , Transfusión Sanguínea , Cristianismo , Eritropoyetina/administración & dosificación , Hemodilución , Procedimientos Quirúrgicos Menores , Religión y Medicina , Procedimientos Quirúrgicos Operativos , Adolescente , Adulto , Anciano , Anemia/etiología , Niño , Urgencias Médicas , Ácido Fólico/administración & dosificación , Humanos , Enfermedad Iatrogénica , Hierro/administración & dosificación , Persona de Mediana Edad , Reoperación , Estudios Retrospectivos , Procedimientos Quirúrgicos Operativos/mortalidad
12.
Ann Ital Chir ; 71(5): 599-602, 2000.
Artículo en Italiano | MEDLINE | ID: mdl-11217478

RESUMEN

Lymphangiomatosis confined to the spleen is a very are condition. The authors in this article describes one new case and briefly reviews the literature. In this case, after the exclusion of an hydatidosis of the spleen, a total splenectomy was performed. The histologic findings confirmed the lymphangiomatosis of the spleen. The authors emphasize the surgical strategy in splenic lymphangiomyomatosis, infact the total splenectomy is mandatory, because the splenic parenchyma is nearly completely substitute by the cysts. For this reason is preferably, before surgery, to perform the antibateric profilaxis against the OPSI.


Asunto(s)
Quistes/cirugía , Enfermedades del Bazo/cirugía , Quistes/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Enfermedades del Bazo/diagnóstico
13.
Nurse Pract ; 9(3): 27-32, 79, 1984 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-6424067

RESUMEN

Many nurse practitioners are involved in providing care to patients who believe they have either been exposed to or contracted hepatitis. Discoveries and new developments in the field of viral hepatitis have made the diagnosis of hepatitis A and hepatitis B more definitive. Until recently viral hepatitis was simply classified as either infectious or serum hepatitis. This article will focus on recent developments and management of hepatitis A, hepatitis B and non-A and non-B.


Asunto(s)
Hepatitis Viral Humana/diagnóstico , Anticuerpos Antivirales/análisis , Hepatitis A/transmisión , Hepatitis B/transmisión , Anticuerpos contra la Hepatitis B/análisis , Antígenos de Superficie de la Hepatitis B/análisis , Hepatitis C/diagnóstico , Virus de Hepatitis/inmunología , Hepatitis Viral Humana/sangre , Humanos
16.
J Asthma ; 44(6): 429-32, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17654127

RESUMEN

OBJECTIVE: Scientific evidence suggests that lycopene and antioxidant vitamins have significant antioxidant and protective effects. METHODS: This case-control study included 96 subjects (40 asthmatics, 56 healthy control subjects). Baseline blood samples, pulmonary function tests, and clinical and alimentary histories were collected. All subjects were grouped by age, sex, cigarette smoking habit, body mass index, alimentary intake, and atopic status. RESULTS: Serum lycopene concentration was significantly lower in asthmatic subjects than in healthy control subjects (0.10+/-0.7 micromoL/L vs. 0.16+/-0.8 micromoL/L--p<0.001). Serum vitamin A concentration was significantly lower in asthmatics (2.38+/-0.37 micromoL/L) in respect to control subjects (3.06+/-0.56 micromoL/L) (p<0.01). Plasma serum concentration of vitamin E and beta-carotene were not found to be different in the two groups. CONCLUSIONS: Dietary supplementation or adequate intake of lycopene and vitamin A rich foods may be beneficial in asthmatic subjects.


Asunto(s)
Antioxidantes/análisis , Asma/sangre , Carotenoides/sangre , Vitaminas/sangre , Adulto , Análisis de Varianza , Asma/fisiopatología , Índice de Masa Corporal , Estudios de Casos y Controles , Ingestión de Energía , Femenino , Volumen Espiratorio Forzado , Humanos , Licopeno , Masculino , Persona de Mediana Edad , Ápice del Flujo Espiratorio , Fumar , Capacidad Vital , Vitamina A/sangre , Vitamina E/sangre , beta Caroteno/sangre
17.
Am J Med Genet A ; 140(11): 1203-7, 2006 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-16652357

RESUMEN

We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy-Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto- and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, with a decreased level of aggression. To define the extension of the duplicated region, we performed FISH analyses by using YAC probes. The analyses revealed a tandem duplication of the 12q22q24.33 region, with the proximal breakpoint located between 96.5 and 97.6 cM and the distal one between 154 and 161 cM. This is the first case of pure de novo duplication involving the 12q22q24.33 region. To better define the clinical phenotype associated with 12q partial duplication, we compared our case with the four patients with similar pure duplications previously described.


Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 12/genética , Anomalías Múltiples/patología , Trastorno por Déficit de Atención con Hiperactividad/patología , Niño , Bandeo Cromosómico , Síndrome de Dandy-Walker/patología , Duplicación de Gen , Humanos , Hibridación Fluorescente in Situ , Discapacidad Intelectual/patología , Cariotipificación , Masculino
18.
Mod Probl Ophthalmol ; 16: 80-94, 1976.
Artículo en Inglés | MEDLINE | ID: mdl-946325

RESUMEN

Rabbit lenses exposed to unrelated Ag/Ab interactions and to heterologous anti-lens and anti-uveo-retinal antibodies show alterations of their permeability with loss of Rb+ followed by efflux of macromolecular intracellular constituents; these phenomena take place also without complement when the ratio of the unrelated Ag/ab is in Ag excess, while complement is strictly required for the action of anti-tissue antibodies. The possible role of these findings as regards the pathogenesis of complicated cataracts in uveitis and the self-maintenance of recurrent uveitis is briefly discussed.


Asunto(s)
Reacciones Antígeno-Anticuerpo , Cristalinas/metabolismo , Animales , Anticuerpos , Anticuerpos Heterófilos , Cationes Bivalentes , Bovinos , Cristalinas/inmunología , Cobayas , Permeabilidad , Conejos , Retina/inmunología , Úvea/inmunología , Uveítis/inmunología
19.
Ophthalmologica ; 176(3): 164-9, 1977.
Artículo en Inglés | MEDLINE | ID: mdl-613290

RESUMEN

Normal rabbit lenses exposed in vitro to heterologous antibody (Ab)--antigen (Ag) interactions lose control of the intracellular 86Rb; this membrane damage, which seems to be related to the quantitative ratio Ab/Ag, is relatively complement independent and is followed by a subsequent leakage of lenticular proteins. A possible implication of these findings in the development of complicated cataracts in uveitis (as 'permeability cataracts') and in the self-maintenance of recurrent uveal inflammation is shortly discussed.


Asunto(s)
Reacciones Antígeno-Anticuerpo , Proteínas del Ojo/metabolismo , Cristalino/inmunología , Animales , Permeabilidad de la Membrana Celular , Proteínas del Sistema Complemento , Cristalino/metabolismo , Conejos , Radioisótopos , Rubidio
20.
Ophthalmologica ; 176(4): 230-4, 1978.
Artículo en Inglés | MEDLINE | ID: mdl-662274

RESUMEN

Normal rabbit lenses exposed in vitro to heterologous antilens and antiuveoretina antibodies lose control of the intracellular 86Rb and this effect is followed by a late leakage of lenticular proteins; both phenomena take place only in the presence of complement. This antibody-induced complement-dependent membrane damage might be involved in the pathogenesis of complicated cataracts in uveitis and in the self-maintenance of recurrent uveal inflammations.


Asunto(s)
Autoanticuerpos , Proteínas del Ojo/metabolismo , Cristalino/inmunología , Animales , Permeabilidad de la Membrana Celular , Proteínas del Sistema Complemento , Sueros Inmunes , Cristalino/metabolismo , Conejos , Radioisótopos , Retina/inmunología , Rubidio , Úvea/inmunología
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