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1.
Int Wound J ; 12(1): 32-9, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23445302

RESUMEN

The purpose of this uncontrolled study was to evaluate the clinical effectiveness of ReCell(®) system in the treatment of chronic ulcers. From October 2011 to July 2012, 20 patients, 8 men and 12 women with a mean age of 70 years, with chronic ulcers of different aetiology that were unresponsive to conventional therapies were recruited and treated using the ReCell(®) system. Patient pain rate, scar aesthetics and patient satisfaction were assessed using a Visual Analogue Scale, Manchester Scar Scale and the Rosenberg Self-Esteem Scale, respectively. Complete ulcer healing, defined as 100% reepithelialisation was observed between 40 and 60 days in 14 patients (70%) depending on the type of ulcer and comorbidity. At day 60 postprocedure, 80% reepithelialisation was present in five patients (25%), while one patient with concomitant psoriasis had 50% reepithelialisation. Pain scores improved by day 7 postprocedure. The function and aesthetics of the ReCell-treated patients were good. It is concluded that the ReCell technique may have provided the regenerative tissue stimulation necessary for the rapid healing of chronic ulcers, including those not responsive to more traditional methods.


Asunto(s)
Vendajes , Trasplante de Piel/métodos , Úlcera Cutánea/cirugía , Piel Artificial , Anciano , Anciano de 80 o más Años , Enfermedad Crónica , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Úlcera Cutánea/etiología , Úlcera Cutánea/patología , Resultado del Tratamiento , Cicatrización de Heridas
2.
Clin Exp Dermatol ; 35(7): 776-80, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-19958370

RESUMEN

BACKGROUND: Epidermal replacement is an important step in the management of patients with post-traumatic and iatrogenic scars. Skin-colour variation from disease or trauma causes significant changes in self-image and appearance. AIM: The aim of our study was to analyse the results obtained with a novel autologous cell-harvesting system (ReCell) for epidermal replacement in patients with post-traumatic scars that had not improved with any other surgical procedure. METHODS: We recruited 30 patients with post-traumatic or iatrogenic scars admitted to our department over 2 years. The primary endpoints of the study were: (i) time for complete epithelialization (both treated area and biopsy site) and (ii) aesthetic and functional quality of the epitheliaization (colour, joint contractures). Infections, inflammations or any adverse effects of the procedure were also reported. RESULTS: In total, 30 patients were analysed. The aesthetic and functional outcomes were rated by both patient and surgeon. Pigmentation was rated by the Vancouver Scar Scale. Most (80%) of the patients had an excellent or good outcome, with pigmentation rated as normal in 60% of the group. CONCLUSIONS: The procedure is a feasible, simple and safe technique. It gives similar results to skin grafting but because it harvests from much smaller areas, can open possible future applications in the management of patients with large scars.


Asunto(s)
Cicatriz/cirugía , Epidermis/trasplante , Pigmentación de la Piel , Recolección de Tejidos y Órganos/métodos , Adulto , Biopsia , Cicatriz/patología , Estética , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias , Piel/patología , Resultado del Tratamiento , Adulto Joven
3.
Eur Rev Med Pharmacol Sci ; 14(8): 691-4, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20707289

RESUMEN

BACKGROUND: The aim of this report was to analyze the results obtained with the ReCell system for the surgical treatment of stable vitiligo hands. MATERIALS AND METHODS: One patient with stable vitiligo of the hands was admitted at the Department of Plastic and Reconstructive Surgery, University of Rome Tor Vergata. The patient underwent to ReCell system for the treatment of stable vitiligo hands. RESULTS: The repigmentation was assessed using the Vitiligo Area Scoring index (VASI). The extent of pigmentation was scored as excellent, good, fair, and poor depending on the percentage of the repigmentation in the previously depigmented site. The color of the repigmented area was compared with the adjacent normally pigmented area. The patient had an excellent repigmentation. CONCLUSIONS: ReCell system is a simple, safe and feasible technique. The method that uses noncultured autologous epidermal suspension is simpler, cheaper, less time consuming and does not require sophisticated laboratory facilities, when compared with methods employing cultured melanocytes.


Asunto(s)
Mano/patología , Melanocitos/metabolismo , Vitíligo/terapia , Adulto , Humanos , Masculino , Pigmentación de la Piel , Trasplante de Piel/métodos , Factores de Tiempo , Recolección de Tejidos y Órganos/métodos , Trasplante Autólogo/métodos , Resultado del Tratamiento
4.
Eur Rev Med Pharmacol Sci ; 14(5): 491-3, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20556931

RESUMEN

Labial fusion is defined as either partial or complete adherence of the labia minora (1), and also called vulvar fusion, adhesions of the labia minor or conglutination of the labia minora and sinechia of the vulva. The complete and severe labial fusion is a rare pathology with a small number of cases reported in the literature in adults. We present a case report of a postmenopausal woman who presented with voiding difficulty and incontinence and was treated by surgical division of the adhesions and immediate resolution of the urinary incontinence confirmed by multichannel urodynamic test postoperatively.


Asunto(s)
Incontinencia Urinaria/etiología , Enfermedades de la Vulva/complicaciones , Anciano , Femenino , Humanos , Posmenopausia , Índice de Severidad de la Enfermedad , Adherencias Tisulares/complicaciones , Adherencias Tisulares/cirugía , Resultado del Tratamiento , Incontinencia Urinaria/cirugía , Enfermedades de la Vulva/cirugía
5.
J Wound Care ; 19(5): 186, 188-90, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20505591

RESUMEN

Platelet rich plasma was used as an autologous scaffold for cellular growth, in combination with hyaluronic acid as a temporary dermal substitute. This aided healing of acute and chronic open wounds of the foot and ankle.


Asunto(s)
Traumatismos del Tobillo/terapia , Traumatismos de los Pies/terapia , Ácido Hialurónico/uso terapéutico , Plasma Rico en Plaquetas , Traumatismos de los Tendones/terapia , Viscosuplementos/uso terapéutico , Cicatrización de Heridas/fisiología , Adulto , Anciano , Anciano de 80 o más Años , Vendajes , Femenino , Geles , Humanos , Masculino , Persona de Mediana Edad , Piel Artificial , Resultado del Tratamiento
6.
Clin Genet ; 74(1): 39-46, 2008 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-18435798

RESUMEN

Fibrillin-1 gene (FBN1) mutations cause Marfan syndrome (MFS), an inherited connective tissue disorder with autosomal dominant transmission. Major clinical manifestations affect cardiovascular and skeletal apparatuses and ocular and central nervous systems. We analyzed FBN1 gene in 99 patients referred to our Center for Marfan Syndrome and Related Disorders (University of Florence, Florence, Italy): 85 were affected by MFS and 14 by other fibrillinopathies type I. We identified mutations in 80 patients. Among the 77 different mutational events, 46 had not been previously reported. They are represented by 49 missense (61%), 1 silent (1%), 13 nonsense (16%), 6 donor splice site mutations (8%), 8 small deletions (10%), and 3 small duplications (4%). The majority of missense mutations were within the calcium-binding epidermal growth factor-like domains. We found preferential associations between The Cys-missense mutations and ectopia lentis and premature termination codon mutations and skeletal manifestations. In contrast to what reported in literature, the cardiovascular system is severely affected also in patients carrying mutations in exons 1-10 and 59-65. In conclusion, we were able to detect FBN1 mutations in 88% of patients with MFS and in 36% of patients with other fibrillinopathies type I, confirming that FBN1 mutations are good predictors of classic MFS.


Asunto(s)
Síndrome de Marfan/genética , Proteínas de Microfilamentos/genética , Mutación , Adolescente , Adulto , Análisis Mutacional de ADN , Femenino , Fibrilina-1 , Fibrilinas , Pruebas Genéticas , Humanos , Masculino
7.
Free Radic Res ; 49(1): 67-77, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25348343

RESUMEN

Reperfusion injury after oxygen starvation is a key pathogenic step in ischemic diseases. It mainly consists in oxidative stress, related to mitochondrial derangement and enhanced generation of reactive oxygen species (ROS), mainly superoxide anion (O2(•2)), and peroxynitrite by cells exposed to hypoxia. This in vitro study evaluates whether Mn(II)(4,10-dimethyl-1,4,7,10-tetraazacyclododecane-1,7-diacetate).2H2O, or Mn(II)(Me2DO2A), a new low molecular weight, Mn(II)-containing O2(•) scavenger, has a direct protective action on H9c2 rat cardiac muscle cells subjected to hypoxia and reoxygenation. Mn(II)(Me2DO2A) (1 and 10 µmol/l) was added to the culture medium at reoxygenation and maintained for 2 h. In parallel experiments, the inactive congener Zn(II)(Me2DO2A), in which Zn(II) replaced the functional Mn(II) center in the same organic scaffold, was used as negative control. Mn(II)(Me2DO2A) (10 µmol/l) significantly increased cardiac muscle cell viability (trypan blue assay), improved mitochondrial activity (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide test, membrane potential Δψ), reduced apoptosis (mitochondrial permeability transition pore opening, caspase-3, terminal deoxynucleotidyl transferase deoxyuridine triphosphate nick end labeling assay), decreased intracellular ROS levels (2',7'-dichlorodihydrofluorescein diacetate and MitoSOX assays), and decreased protein nitroxidation (nitrotyrosine [NT] expression) and DNA oxidation (8-hydroxy-deoxyguanosine levels). Of note, Zn(II)(Me2DO2A) had no protective effect. The mechanism of Mn(II)(Me2DO2A) relies on concentration-dependent removal of harmful O2(•) generated at reoxygenation from dysfunctional mitochondria in hypoxia-induced cells, as indicated by the MitoSOX assay. This study suggests that Mn(II)(Me2DO2A) is a promising antioxidant drug capable of reducing O2(•)-mediated cell oxidative stress which occurs at reoxygenation after hypoxia. In perspective, Mn(II)(Me2DO2A) might be used to reduce ischemia-reperfusion organ damage in acute vascular diseases, as well as to extend the viability of explanted organs before transplantation.


Asunto(s)
Complejos de Coordinación/farmacología , Depuradores de Radicales Libres/farmacología , Manganeso/farmacología , Daño por Reperfusión Miocárdica/prevención & control , Miocitos Cardíacos/efectos de los fármacos , Superóxidos/metabolismo , Animales , Antioxidantes/farmacología , Hipoxia de la Célula/efectos de los fármacos , Hipoxia de la Célula/fisiología , Línea Celular , Peso Molecular , Daño por Reperfusión Miocárdica/metabolismo , Miocitos Cardíacos/metabolismo , Estrés Oxidativo/efectos de los fármacos , Ratas , Especies Reactivas de Oxígeno/metabolismo
8.
J Thromb Haemost ; 2(9): 1657-62, 2004 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-15333044

RESUMEN

BACKGROUND: The K5 polysaccharide obtained from Escherichia coli strain 010:K5:H4 is a polymer of the disaccharidic unit formed by D-glucuronic acid and N-acetylglucosamine. This structure is akin to N-acetylheparosan, the precursory polymer of heparin and of heparan sulfate. This structural affinity with N-acetylated heparin and with de-sulfated heparin makes the K5 polysaccharide extremely useful for the preparation of sulfated heparin-like semi-synthetic derivatives. It has been demonstrated that heparins are able to inhibit tissue factor and cytokine production and expression by human monocytes. OBJECTIVE: The aim of this study was to evaluate the effects of four different heparin-like semi-synthetic derivatives on inflammatory cytokine production and expression by human mononuclear cells. RESULTS: The simultaneous addition of lipopolysaccharide (LPS; 0.2 and 10 micro g mL(-1)) and the K5 polysaccharide did not inhibit interleukin (IL)-1beta, IL-6 or tumor necrosis factor (TNF)-alpha production by stimulated mononuclear cells. IL-1beta, IL-6 and TNF-alpha concentrations in supernatants of LPS-stimulated mononuclear cells were not influenced by the addition of N,O-sulfated K5 polysaccharide (K5-N, OS) and epimerized N-sulfated K5 polysaccharide (K5 NS epi) at 5 and 10 microg mL(-1), whereas the addition of epimerized N,O-sulfated K5 polysaccharide (K5-N, OS epi) (5 and 10 microg mL(-1)) and O-sulfated K5 polysaccharide (K5-OS) (5 and 10 microg mL(-1)) to LPS-stimulated cells caused a significant dose-dependent inhibition of IL-1beta, IL-6 and TNF-alpha. All sulfated heparin-like semi-synthetic derivatives did not influence the IL-10 production by LPS-stimulated mononuclear cells. In LPS-stimulated cells (0.2 and 10 microg mL(-1)), K5-OS or K5-N, OS epi at 5 and 10 microg mL(-1) markedly decreased TNF-alpha mRNA expression. CONCLUSIONS: These results indicate that the sulfated heparin-like semi-synthetic derivatives K5-OS and K5-N, OS epi are able to inhibit both expression and production of inflammatory cytokines, whereas they do not influence the anti-inflammatory cytokine IL-10, suggesting a potential role for these products as modulators of inflammatory reactions.


Asunto(s)
Citocinas/biosíntesis , Citocinas/genética , Heparina/análogos & derivados , Leucocitos Mononucleares/efectos de los fármacos , Leucocitos Mononucleares/inmunología , Cápsulas Bacterianas , Expresión Génica/efectos de los fármacos , Heparina/síntesis química , Heparina/farmacología , Humanos , Técnicas In Vitro , Interleucina-1/biosíntesis , Interleucina-1/genética , Interleucina-10/biosíntesis , Interleucina-10/genética , Interleucina-6/biosíntesis , Interleucina-6/genética , Lipopolisacáridos/farmacología , Polisacáridos Bacterianos/farmacología , Factor de Necrosis Tumoral alfa/biosíntesis , Factor de Necrosis Tumoral alfa/genética
10.
Minerva Med ; 68(22): 1475-90, 1977 May 05.
Artículo en Italiano | MEDLINE | ID: mdl-300860

RESUMEN

Personal experience with acute enzymatic pancreatitis in 113 cases observed, over 11 years, at the Santa Croce Hospital Surgical Division is described. Only 58 cases (51,3%) were submitted to surgery and the remaining 55 cases (48,7%) were treated with medical therapy. A mortality of 16,8% was observed.


Asunto(s)
Pancreatitis/enzimología , Enfermedad Aguda , Adulto , Anciano , Amilasas/metabolismo , Aprotinina/uso terapéutico , Femenino , Glucosidasas/metabolismo , Humanos , Lipasa/metabolismo , Masculino , Persona de Mediana Edad , Pancreatitis/tratamiento farmacológico , Pancreatitis/cirugía , Péptido Hidrolasas/metabolismo
11.
Minerva Med ; 68(22): 1509-18, 1977 May 05.
Artículo en Italiano | MEDLINE | ID: mdl-859705

RESUMEN

A personal series of 395 cases of malignant tumours of the large intestine observed at the Surgical Division of the Cuneo Hospital from 1963 to 1973 is reported. Of the series examined, 206 cases involved the sigmoid colon and rectum and 33 the remaining colon. The percentage in which radical surgery was possible was of the order of 52%. Survival at 5 years after the operation was: 1) carcinoma of the colon 30%, 2) of the sigmoid 42.1% and 3) of the rectum 45%.


Asunto(s)
Neoplasias del Colon/cirugía , Neoplasias del Recto/cirugía , Adulto , Anciano , Neoplasias del Colon/epidemiología , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/mortalidad , Neoplasias del Recto/epidemiología , Neoplasias del Colon Sigmoide/cirugía , Factores de Tiempo
12.
Minerva Med ; 68(22): 1495-502, 1977 May 05.
Artículo en Italiano | MEDLINE | ID: mdl-193070

RESUMEN

A series of 592 cases of gastric carcinoma operated on between January 1960 and December 1974 at the S. Croce Hospital at Cuneo is reported. The following observations were made: greater frequency in males (68.25%). The following localizations: cardiac portion 31 cases; fundus 20; body 93 and antropyloric 249. Cancer ulcer in 5.06% of cases. Cancer on the gastric stump in ulcer resections in two cases. The following operations were performed: Gastric resection in 325 cases: operative mortality (O.M.) 5%; 5-year survival: 18%. Total gastrectomy in 38 cases: O.M. 13.1%; 2-year survival: 21%, 5-year survival 5.2%. E.A.G. in 61 cases; O.M. 17.8%; survival: 6 months; maximum 26 months. Gastrostomy in 16 cases; Expl. laparotomy in 150 cases. Survival was only a few months in these two latter groups. Out of all operations 5-year survival was 6.7% and 27.4% in so-called curative interventions. In principle, gastric resection is still considered to be the most valid approach.


Asunto(s)
Neoplasias Gástricas/cirugía , Adenocarcinoma/cirugía , Adenocarcinoma Mucinoso/cirugía , Adulto , Anciano , Carcinoma/cirugía , Estudios de Evaluación como Asunto , Femenino , Gastrectomía , Humanos , Italia , Masculino , Persona de Mediana Edad , Metástasis de la Neoplasia , Síndromes Posgastrectomía/mortalidad , Factores Sexuales , Factores de Tiempo
13.
Minerva Chir ; 57(4): 527-9, 2002 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-12145588

RESUMEN

BACKGROUND: In laparoscopic surgery serious complications caused by the blind insertion of the first trocar have been reported even after the pneumoperitoneum is established by means of a Veress needle. As a consequence, some techniques to safely insert the first port have been developed. Many surgeons advocate a minilaparotomy to position the first port. However, especially in obese patients, the dissection to insert the Hasson's trocar may be difficult and time consuming. As an alternative, optical disposable trocars have been studied and produced to be safely positioned under direct visualization. METHODS: A new technique to insert, under adequate optical control, a non disposable standard port is described. Personal experience in 126 consecutive patients is reviewed. Data were recorded prospectically and insertion time was recorded in every case. RESULTS: Medium time of trocar insertion was 55 sec (range 30-160 sec). Identification of distinct layers of the abdominal wall was always possible. There were no complications related to the insertion of the first reusable cannula under visual control. CONCLUSIONS: This technique may be considered a safe, simple and cost effective method to insert the first trocar.


Asunto(s)
Laparoscopía/métodos , Instrumentos Quirúrgicos , Adulto , Anciano , Anciano de 80 o más Años , Colecistectomía Laparoscópica/instrumentación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Óptica y Fotónica , Complicaciones Posoperatorias , Factores de Tiempo
14.
Minerva Chir ; 44(11): 1569-72, 1989 Jun 15.
Artículo en Italiano | MEDLINE | ID: mdl-2771108

RESUMEN

Certain aspects of OPSI (Overwhelming Post-Splenectomy Infection) are examined, mainly its considerable gravity, its relatively high incidence, especially in children; its difficult prophylaxis with a report on personal experience of ectopic autotransplant of spleen tissue in two young patients after splenectomy for traumatic rupture. The technique was found to be simple and quickly performed. Scintigraphic follow-up for over 4 years after the operation showed satisfactory growth in the transplanted spleen tissue.


Asunto(s)
Bazo/trasplante , Esplenectomía , Rotura del Bazo/cirugía , Adolescente , Preescolar , Humanos , Masculino , Cintigrafía , Bazo/diagnóstico por imagen , Trasplante Autólogo
15.
G Chir ; 17(6-7): 362-6, 1996.
Artículo en Italiano | MEDLINE | ID: mdl-9272981

RESUMEN

Laparoscopic cholecystectomy has brought about an important and to some extent provocative revolution introducing the new dimension of minimally invasive surgery. The intrinsic limits of this new technique are analysed, as well as those that need to be established for its adoption to respect the rules of traditional surgery. Author's experience suggests that the explorative stage is widely indicated as a first step. This does not preclude early, reasoned and cautious conversion to laparotomy, but allows a safe and more generous use of the technique thanks to the possibility to check on patient selection.


Asunto(s)
Colecistectomía Laparoscópica , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Colecistectomía , Colecistectomía Laparoscópica/efectos adversos , Humanos , Laparotomía , Persona de Mediana Edad
16.
G Chir ; 20(11-12): 500-3, 1999.
Artículo en Italiano | MEDLINE | ID: mdl-10645069

RESUMEN

Conditions of predictivity seem to make treatment of common bile duct (CBD) stones during VLC more safe and adequate. IV cholangiography (or, nowadays, MRI and echoendoscopy) drive to a selective use of ERCP and cholangiography, help to reduce the incidence of residual lithiasis and give a "topographical map" of the CBD that can be useful, during VLC, in the search of the hilum structures, especially when the anatomical situation is not clear.


Asunto(s)
Colecistectomía Laparoscópica , Cálculos Biliares/diagnóstico , Cálculos Biliares/cirugía , Cirugía Asistida por Video , Ampolla Hepatopancreática , Colangiografía , Colangiopancreatografia Retrógrada Endoscópica , Colestasis Extrahepática/diagnóstico , Diagnóstico Diferencial , Humanos
17.
G Chir ; 11(3): 174-6, 1990 Mar.
Artículo en Italiano | MEDLINE | ID: mdl-2223494

RESUMEN

The Authors report their experience concerning 237 stapled sutures performed during 93 gastro-intestinal operations. Intraoperative technical advantages are described and improved postoperative courses are outlined; in particular earlier recovery of intestinal function, minimal rate of complications and 11-day average post-operative stay are reported.


Asunto(s)
Engrapadoras Quirúrgicas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Colon/cirugía , Urgencias Médicas , Humanos , Intestinos/cirugía , Tiempo de Internación , Persona de Mediana Edad , Complicaciones Posoperatorias , Estómago/cirugía
18.
Curr Pharm Des ; 20(9): 1338-44, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-23978101

RESUMEN

The histamine H4 receptor (H4R), recently cloned and identified, is a G-protein coupled histamine receptor family expressed in immune cells which plays an important role in inflammation. Recent data evidentiated that H4R antagonists can decrease airway inflammation and hyperreactivity in animal models of asthma. In the present study we evaluated the effect of the selective H4R antagonist JNJ7777120 (JNJ) in carrageenan-induced pleurisy, an in vivo model of inflammation, well characterized for cellular and molecular mechanisms. Intra-pleural administration of λ-carrageenan (1% w/v in 0.2 ml sterile saline) determined an intense recruitment of leucocytes in pleural exudates and in lung tissues, activated inducible nitric oxide (NO) synthase and cyclooxygenase-2, thus increasing the generation of harmful autacoids such as NO and pro-inflammatory prostaglandins, PgE2 and 6-ketoPgF(1α), increased cellular and DNA oxidative stress, measured as malondialdehyde and 8-OH-deoxyguanosine and the local generation of IL-1ß and TNF-α. Moreover, the activity of caspase-3, an early marker of apoptosis was also activated by λ-carrageenan injection. The pre-treatment with JNJ (5-10 mg Kg⁻¹ b.wt., given intrapleurally), 60 min before carrageenan markedly reduced all the studied parameters. This study clearly demonstrated that histamine H4R antagonists have anti-inflammatory effects and could have potential therapeutic application for the treatment of inflammatory diseases.


Asunto(s)
Indoles/farmacología , Inflamación/tratamiento farmacológico , Piperazinas/farmacología , Pleuresia/tratamiento farmacológico , Receptores Acoplados a Proteínas G/antagonistas & inhibidores , Animales , Antiinflamatorios/farmacología , Apoptosis/efectos de los fármacos , Carragenina/toxicidad , Caspasa 3/metabolismo , Ciclooxigenasa 2/metabolismo , Modelos Animales de Enfermedad , Antagonistas de los Receptores Histamínicos/farmacología , Inflamación/fisiopatología , Masculino , Óxido Nítrico Sintasa de Tipo II/metabolismo , Pleuresia/fisiopatología , Ratas , Ratas Wistar , Receptores Histamínicos , Receptores Histamínicos H4
19.
Eur J Med Genet ; 53(5): 299-302, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20538085

RESUMEN

The Fibrillin-1 gene (FBN1; chromosome 15q21.1) encodes a major glycoprotein component of the extracellular matrix. Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder. In the present study, we describe five novel missense FBN1 mutations in five Marfan patients that have the peculiarity to activate two contemporary mutational mechanisms: a missense mutation and exon skipping.


Asunto(s)
Sustitución de Aminoácidos , Síndrome de Marfan , Proteínas de Microfilamentos/genética , Mutación Missense , Adulto , Niño , Exones , Femenino , Fibrilina-1 , Fibrilinas , Heterocigoto , Humanos , Masculino , Proteínas de Microfilamentos/metabolismo , Persona de Mediana Edad
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