Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 25
Filtrar
Más filtros

Bases de datos
País/Región como asunto
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Colorectal Dis ; 18(5): 459-67, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26408287

RESUMEN

AIM: Although the oncological adequacy of laparoscopic rectal resection (LR) appears equivalent to open resection (OR), its benefit is controversial in the elderly. The aim of this study was to investigate the influence of LR on morbidity and mortality in octogenarians. METHOD: This was a retrospective analysis of all patients who underwent rectal surgery for cancer between 2003 and 2013 in a teaching hospital. The primary aim of the study was to assess the influence of surgical approach on mortality and morbidity of rectal resection in patients ≥ 80 years old. Regression analysis was performed to control the effect of covariables on the clinical outcome. RESULTS: Of 408 patients 203 were in the LR group and 205 in the OR group including 303 (74.3%) less than 80 years and 105 (25.7%) over 80 years. The mortality was lower in the LR group compared with the OR group for patients under 80 years (0% vs 4.6%; P = 0.049) and no different in the over 80 group (11.5% vs 9.4%; P = 0.859). In younger patients, the OR group showed longer hospital stay (9 vs 7 days; P < 0.001) and more complications (44.1% vs 29.8%; P = 0.042). Medical complications were more frequent in LR group than OR group octogenarians (40.4% vs 20.8%; P = 0.009) as well as grade C anastomotic leakage (13.8 vs 10.7; P = 0.041). CONCLUSION: LR for rectal cancer showed clinical advantages in patients under 80 years and was as safe as OR in patients over 80 years, although the advantages of laparoscopic surgery were lost in the elderly group due to a higher rate of medical complications. OR may be an option in elderly patients with important comorbidities.


Asunto(s)
Factores de Edad , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Laparoscopía/métodos , Complicaciones Posoperatorias/epidemiología , Neoplasias del Recto/cirugía , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Morbilidad , Complicaciones Posoperatorias/etiología , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento
2.
Br J Cancer ; 112(2): 306-12, 2015 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-25461804

RESUMEN

BACKGROUND: Hyperthermic intraperitoneal chemotherapy (HIPEC) is advised as a treatment option for epithelial ovarian cancer (EOC) with peritoneal carcinomatosis. This study was designed to define the pharmacokinetics of cisplatin (CDDP) and paclitaxel (PTX) administered together during HIPEC. METHODS: Thirteen women with EOC underwent cytoreductive surgery (CRS) and HIPEC, with CDDP and PTX. Blood, peritoneal perfusate and tissue samples were harvested to determine drug exposure by high-performance liquid chromatography and matrix-assisted laser desorption ionization imaging mass spectrometry (IMS). RESULTS: The mean maximum concentrations of CDDP and PTX in perfusate were, respectively, 24.8±10.4 µg ml(-1) and 69.8±14.3 µg ml(-1); in plasma were 1.87±0.4 µg ml(-1) and 0.055±0.009 µg ml(-1). The mean concentrations of CDDP and PTX in peritoneum at the end of HIPEC were 23.3±8.0 µg g(-1) and 30.1±18.3 µg(-1)g(-1), respectively. The penetration of PTX into the peritoneal wall, determined by IMS, was about 0.5 mm. Grade 3-4 surgical complications were recorded in four patients, five patients presented grade 3 and two patients presented grade 4 hematological complications. CONCLUSIONS: HIPEC with CDDP and PTX after CRS is feasible with acceptable morbidity and has a favorable pharmacokinetic profile: high drug concentrations are achieved in peritoneal tissue with low systemic exposure. Larger studies are needed to demonstrate its efficacy in patients with microscopic postsurgical residual tumours in the peritoneal cavity.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/farmacocinética , Carcinoma/tratamiento farmacológico , Neoplasias Glandulares y Epiteliales/tratamiento farmacológico , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Peritoneales/tratamiento farmacológico , Adulto , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Área Bajo la Curva , Carcinoma/secundario , Cisplatino/administración & dosificación , Femenino , Humanos , Hipertermia Inducida , Infusiones Parenterales , Masculino , Persona de Mediana Edad , Neoplasias Glandulares y Epiteliales/secundario , Neoplasias Ováricas/patología , Paclitaxel/administración & dosificación , Neoplasias Peritoneales/secundario , Peritoneo/metabolismo
3.
Eur Surg Res ; 50(3-4): 262-72, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23751813

RESUMEN

BACKGROUND: A wide variety of meshes are available for surgical treatment of abdominal wall defects. These meshes are constructed with different materials with different biological properties. METHODS: A prospective database was instituted (January 2009-December 2010) to register biological prostheses (BPs) implanted in Italy. RESULTS: A total of 193 cases were registered. The mean age of the patients was 53.1 years (SD ±7.4). The ratio of males to females was 1.3 to 1. The mean body mass index was 28.2 (SD ±4.1). The breakdown of American Society of Anesthesiologists (ASA) scores was as follows: ASA I, 35.7%; ASA II, 27.5%; ASA III, 31.6%, and ASA IV, 5.2%. For ventral-incisional hernias, the mean duration of surgery was 101.1 min (SD ±25.3), while for inguinal-femoral hernias it was 49.2 min (SD ±19.1). The rate of urgent procedures was 36.7%. The surgical field was clean in 57.4% of cases, clean-contaminated in 21.3%, contaminated in 12.3% and dirty in 9%. Techniques used for inguinal-femoral hernias were as follows: Lichtenstein in 66.7%, plug and mesh in 3.8%, transabdominal-preperitoneal in 25.7% and intraperitoneal onlay mesh in 3.8%. The following prostheses were used: swine intestinal submucosa in 54.9%, porcine dermal collagen in 39.9% and bovine pericardium in 5.2%. In 45.1% of cases the prostheses were cross-linked. Techniques used for ventral-incisional hernias were as follows: onlay in 3.6%, inlay in 5.5%, sublay in 62.7% and underlay via laparoscopy in 28.2%. The mean overlap was 4.1 cm (SD ±1.2). No intestinal anastomosis was necessary in 65.3% of cases; however, small/large bowel resection and anastomoses were necessary in 22.3 and 12.4% of cases, respectively. Intraoperative blood transfusion was necessary in 10.4% of procedures. The skin was completely closed in 84% of procedures. At the 1-month follow-up, there were no complications in 54.4% of cases. Among the cases with complications, 10 patients (5.8%) experienced recurrence, and the postoperative readmission rate was 12.9%. The average visual analog scale (VAS) score for pain was 2.9 (SD ±1.2) at rest. At the 1-year follow-up, there were no complications in 96.4% of cases. Two patients experienced recurrence, and the postoperative readmission rate was 3.6%. The average VAS score for pain was 1.8 (SD ±0.8) at rest. CONCLUSIONS: This register shows that BPs are highly versatile and can be used in either open or laparoscopic surgery in all kinds of patients and in contaminated surgical fields. However, due to the very good outcomes of synthetic meshes and the high costs of BPs, the latter should only be used in selected cases.


Asunto(s)
Bioprótesis , Herniorrafia/métodos , Sistema de Registros , Animales , Bioprótesis/efectos adversos , Bovinos , Bases de Datos Factuales , Femenino , Hernia Abdominal/cirugía , Herniorrafia/efectos adversos , Humanos , Italia , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Mallas Quirúrgicas/efectos adversos , Porcinos
4.
Transplant Proc ; 40(6): 1956-60, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18675100

RESUMEN

Rates of overall graft survival after liver retransplantation (RETX) are still 20% lower than those after primary liver transplantation (TX). On the basis of previous mathematical approaches from other authors who tried to identify prognostic variables for survival and prognostic risk scores for liver RETX, we studied 12 categorical and 17 continuous variables from the donor, the recipient, and the surgical procedure, among patients who underwent liver retransplantation. Data were retrieved in a retrospective study over the last 12 years, in order to overcome the possible gap of other series that often included RETX performed many years ago. We considered 394 consecutive cadaveric liver TXs in adult patients, namely, 351 primary TXs and 43 RETXs. Using multivariate logistic regression, we calculated the following equation for 1-year risk of death for patients undergoing liver RETX: log(Odds)= -4.81+2.23 x Recipient Sex + 1.86 x Donor Age + 1.60 x MELD Score (where: Recipient Sex: F=0, M=1; Donor Age (years): <40=0, 40-59=1; 60+ =2; MELD Score: <26=0, 26+ =1). With this formula, we built a decision tree to predict the individual risk of death based on the subject's profile. Keeping in mind that mathematical models can only help our decisional process and are not conclusive, our data needs to be validated on a larger scale.


Asunto(s)
Trasplante de Hígado/efectos adversos , Trasplante de Hígado/estadística & datos numéricos , Reoperación/estadística & datos numéricos , Medición de Riesgo , Adolescente , Adulto , Cadáver , Femenino , Supervivencia de Injerto/fisiología , Humanos , Tiempo de Internación , Pruebas de Función Hepática , Trasplante de Hígado/fisiología , Masculino , Persona de Mediana Edad , Análisis de Supervivencia , Sobrevivientes , Donantes de Tejidos/estadística & datos numéricos , Insuficiencia del Tratamiento
5.
Eur J Surg Oncol ; 42(12): 1881-1889, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27266816

RESUMEN

BACKGROUND: Gastrectomy with extended lymphadenectomy is considered the gold standard treatment for advanced gastric cancer, with no age- or comorbidity-related limitations. We evaluated the safety and efficacy of curative gastrectomy with extended nodal dissection, verifying survival in elderly and highly co-morbid patients. METHODS: In a retrospective multicenter study, we examined 1322 non-metastatic gastric-cancer patients that underwent curative gastrectomy with D2 versus D1 lymphadenectomy from January 2000 to December 2009. Postoperative complications, overall survival (OS), and disease-specific survival (DSS) according to age and the Charlson Comorbidity Score were analyzed in relation to the extent of lymphadenectomy. RESULTS: Postoperative morbidity was 30.4%. Complications were more frequent in highly co-morbid elderly patients, and, although general morbidity rates after D2 and D1 lymphadenectomy were similar (29.9% and 33.2%, respectively), they increased following D2 in highly co-morbid elderly patients (39.6%). D2-lymphadenectomy significantly improved 5-year OS and DSS (48.0% vs. 37.6% in D1, p < 0.001 and 72.6% vs. 58.1% in D1, p < 0.001, respectively) in all patients. In elderly patients, this benefit was present only in 5-year DSS. D2 nodal dissection induced better 5-year OS and DSS rates in elderly patients with positive nodes (29.7% vs. 21.2% in D1, p = 0.008 and 47.5% vs. 30.6% in D1, p = 0.001, respectively), although it was present only in DSS when highly co-morbid elderly patients were considered. CONCLUSION: Extended lymphadenectomy confirmed better survival rates in gastric cancer patients. Due to high postoperative complication rate and no significant improvement of the OS, D1 lymphadenectomy should be considered in elderly and/or highly co-morbid gastric cancer patients.


Asunto(s)
Adenocarcinoma/cirugía , Gastrectomía/métodos , Escisión del Ganglio Linfático/métodos , Complicaciones Posoperatorias/epidemiología , Neoplasias Gástricas/cirugía , Adenocarcinoma/epidemiología , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Enfermedades Cardiovasculares/epidemiología , Comorbilidad , Demencia/epidemiología , Diabetes Mellitus/epidemiología , Supervivencia sin Enfermedad , Femenino , Humanos , Hepatopatías/epidemiología , Masculino , Persona de Mediana Edad , Enfermedad Pulmonar Obstructiva Crónica/epidemiología , Estudios Retrospectivos , Neoplasias Gástricas/epidemiología , Tasa de Supervivencia
6.
Transplant Proc ; 37(2): 1170-3, 2005 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-15848659

RESUMEN

In situ split liver transplants represent a technical progression from ex situ split procedures conceived to retrieve grafts for pediatric recipients. The transection line runs along the falciform ligament, so the main artery to the right graft is the right proper artery, whereas the left graft retains the main arterial axis with the celiac trunk. Although the major advantages are for pediatric recipients, due to the expanded pool of grafts available, for adult recipients the results of right split in situ grafts must be compared with whole grafts. We considered two groups of consecutive grafts transplanted since 1993 as first grafts: 20 of the former and 261 of the latter. Groups were comparable for donor gender, recipient age and gender, perfusion solution, ischemia time, and follow-up time, but not for donor age and for the number of arterial anastomoses. Although there were more major surgical complications in the former compared with the latter group (40% vs 25%), the only statistically significant difference was found in retransplantation rate for arterial complications (15% vs 2.2%). No statistical difference was observed in graft or patient actuarial survival rates at 1, 3, or 6 years after transplantation; for right split grafts these were 85%, 69%, and 69% and 95%, 79%, and 79%, respectively.


Asunto(s)
Hepatectomía/métodos , Trasplante de Hígado/métodos , Recolección de Tejidos y Órganos/métodos , Adulto , Anastomosis Quirúrgica , Niño , Femenino , Estudios de Seguimiento , Supervivencia de Injerto , Arteria Hepática/cirugía , Humanos , Arteria Ilíaca/cirugía , Hepatopatías/clasificación , Hepatopatías/cirugía , Trasplante de Hígado/mortalidad , Trasplante de Hígado/fisiología , Masculino , Arteria Mesentérica Superior/cirugía , Persona de Mediana Edad , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Análisis de Supervivencia , Factores de Tiempo
7.
Minerva Anestesiol ; 2015 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-26154446

RESUMEN

INTRODUCTION: Systemic response to cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) causes the activation of endocrine, metabolic, hemodynamic and inflammatory processes. The aim of this work is to describe and analyze the time course of the inflammatory markers concentration during CRS+HIPEC in plasma and peritoneal fluids and the association with hemodynamic and metabolic parameters. MATERIAL AND METHODS: Pre-, Intra- and Post-operative data were collected. Tumor necrosis factor (TNF), interleukine 6, procalcitonine (PCT), cancer antigen 125 (CA-125) in blood and in peritoneal fluids were evaluated. RESULTS: Thirty-eight patients included, 29 (76.3%) female. Mean/median PCI: 9.2/5. Primary malignancy: 5 colo-rectal (13.2%), 5 gastric (13.2%), 23 ovarian (60.5%) and 5 others (13.2%). CCR 0-1 reached in all patients. Cardiac Index, Heart rate and Central Venous Pressure, increased during the procedure while Stroke Volume Variation showed a decrease. Mean Arterial Pressure and Superior Vena Cava Oxygenation were stable through the whole procedure. TNF and CA-125 were steady during the whole procedure; IL-6 had a relevant increase from baseline to start of perfusion (p<0.01); PCT had a steady increase at every time point. Peritoneal sampling showed a statistically significant increase (p<0.01) between start and end of the perfusion phase for all markers but TNF. Serum and peritoneal marker concentration were similar for TNF, PCT and CA-125. IL-6 showed a sharp difference. CONCLUSION: The most significant variations are those of IL-6 and PCT. The cytokines level parallel the hemodynamic derangements. Treatment during HIPEC should mimic the established treatment during sepsis and septic shock.

8.
J Hypertens ; 8(10): 909-11, 1990 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-2174942

RESUMEN

The heating and restraint inherent to tail-cuff measurement of systolic blood pressure (SBP) in rats may alter SBP and introduce a 'biological' error in its estimation by this technique. This problem was examined in unanesthetized normotensive and hypertensive rats fitted with an arterial catheter. All SBP values recorded in unrestrained rats during a 2 h period were averaged by computer and compared with intra-arterial SBP measurements observed while the rat was being subjected to the tail-cuff procedure. With the latter procedure, SBP was 16 +/- 2 mmHg lower in normotensive rats (P less than 0.001) and 7 +/- 3 mmHg higher in hypertensive rats (P less than 0.05) than when the rats were unrestrained. The effects of heat and restraint, both separately and in combination, on SBP were evaluated during four additional 30-min monitoring periods. In both groups of rats, restraint failed to alter SBP and heat lowered it slightly. The two stimuli, combined, lowered SBP in normotensive rats, but raised it by 12 +/- 2 mmHg in hypertensive rats (P less than 0.01). Thus, tail-cuff SBP measurements represent under- and overestimates in normotensive and hypertensive rats, respectively, since the two groups respond to the procedure in opposite manners.


Asunto(s)
Determinación de la Presión Sanguínea/veterinaria , Presión Sanguínea/fisiología , Hipertensión/diagnóstico , Animales , Femenino , Calor , Masculino , Ratas , Ratas Endogámicas SHR , Ratas Endogámicas , Restricción Física , Cola (estructura animal)/irrigación sanguínea
9.
Arch Dermatol Res ; 281(7): 502-3, 1989.
Artículo en Inglés | MEDLINE | ID: mdl-2532876

RESUMEN

The prevalence of polycystic ovaries was determined by pelvic ultrasound imaging in 119 women (mean age, 23.6 +/- 6.06 years; range, 14-45 years) with acne but with no menstrual disorders, obesity, or hirsutism, and in 35 healthy controls (mean age, 25 +/- 5.8 years; range, 21-40 years). Polycystic ovaries were found in 54 out of 119 patients with acne (45.37%) and in 6 out of 35 controls (17.14%). The results of this study indicate that polycystic ovaries are common in women with acne and not necessarily associated with menstrual disorders, obesity, or hirsutism.


Asunto(s)
Acné Vulgar/complicaciones , Síndrome del Ovario Poliquístico/complicaciones , Adolescente , Adulto , Androstenodiona/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Hormona Luteinizante/sangre , Persona de Mediana Edad , Síndrome del Ovario Poliquístico/diagnóstico , Síndrome del Ovario Poliquístico/epidemiología , Prevalencia , Testosterona/sangre , Ultrasonografía
10.
J Int Med Res ; 26(2): 87-92, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9602987

RESUMEN

The aim of this study was to assess the efficacy of PGE2 in enhancing bladder function after vaginal hysterectomy. A total of 110 women with or without urinary incontinence underwent vaginal hysterectomy and cystourethropexy surgery because of grade II or III genital prolapse. Preoperatively the patients were randomly assigned to two groups: group 1 (n = 50) received on the fourth post-operative day, before removal of the bladder catheter, an intravesicular solution of 1.50 mg PGE2 (2 x 0.75 mg); group 2 (n = 60) did not receive any prophylaxis for urinary retention. In the PGE2-treated group significantly fewer patients had urinary retention for 3 days or more (10%, P < 0.05) than in the control group (27%). The use of intravesicular PGE2 reduced the time taken to restore detrusor function.


Asunto(s)
Dinoprostona/administración & dosificación , Histerectomía Vaginal/efectos adversos , Oxitócicos/administración & dosificación , Retención Urinaria/prevención & control , Anciano , Sistemas de Liberación de Medicamentos , Femenino , Humanos , Persona de Mediana Edad , Retención Urinaria/etiología
11.
Clin Exp Obstet Gynecol ; 21(1): 49-56, 1994.
Artículo en Inglés | MEDLINE | ID: mdl-8020178

RESUMEN

The FHR monitoring in 320 patients with fetal distress were randomly analyzed and revised over 16 years. The aim of our study, in so long a period, was to evaluate the role of cardiotocography in order to preserve the fetus from irreversible damage. The results show a progressive improvement of neonatal outcome, due to the development of the experience with this method, and to the improvement in interpretative criteria. However, cardiotocography showed its limits, and the moment has come to seek new integrative methods to associate cardiotocography with a continuous monitoring of the fetal status.


Asunto(s)
Cardiotocografía , Sufrimiento Fetal/diagnóstico , Adulto , Cesárea , Femenino , Muerte Fetal , Sufrimiento Fetal/etiología , Monitoreo Fetal , Humanos , Recién Nacido , Trabajo de Parto Prematuro/diagnóstico , Trabajo de Parto Prematuro/fisiopatología , Embarazo , Complicaciones del Embarazo/fisiopatología , Resultado del Embarazo
12.
Transplant Proc ; 42(4): 1240-3, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20534271

RESUMEN

To expand the donor pool, split-liver transplantation has been implemented in recent years. In the classic technique, the arterial axis with the artery for segment 4 (S4) coming from the left hepatic artery (HA) is included with the right graft. To give a surgical advantage to pediatric recipients in our center, the left HA, the common HA, and the celiac trunk are generally retained with the left liver. Thus the artery for S4 is sacrificed. We compared the outcomes of S4 in 290 whole grafts (WG; group A) with 28 right in situ split-liver grafts (SSLG; group B), which were transplanted over the past 10 years (January 1999-December 2009). The rates of major biliary and of hemorrhagic complications were similar. In most of cases (16/24, 66%) S4, on computerized tomographic scan appeared to show signs of hypoperfusion, sometimes with a peripheral aspect of hyperperfusion in the arterial phase. S1 showed signs of hypoperfusion in only 2 cases. A biliary collection near the resection line present in 8 cases was treated in 6 of them with percutaneous drainage and in 2 with laparotomy. These complications did not influence graft or patient survival. Graft survivals at 1, 5, and 10 years for WG and SSLG were not different among the groups: 85%, 74%, and 66% vs 89%, 79%, and 63%, respectively (P = .8). Although our technique cannot be considered to be anatomically correct, the ischemia of S4 did not influence the outcome. The rate of retransplantations for hepatic artery thrombosis was 17.9% in RSSG and 3.4% in WG (P = .001), which was probably due at least in part to the insertion of interposition grafts.


Asunto(s)
Hepatectomía/métodos , Trasplante de Hígado/fisiología , Hígado/anatomía & histología , Adulto , Anciano , Femenino , Supervivencia de Injerto , Arteria Hepática/patología , Arteria Hepática/trasplante , Humanos , Complicaciones Intraoperatorias/epidemiología , Hígado/irrigación sanguínea , Trasplante de Hígado/métodos , Trasplante de Hígado/mortalidad , Trasplante de Hígado/patología , Espectroscopía de Resonancia Magnética , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Tasa de Supervivencia , Sobrevivientes , Donantes de Tejidos , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
14.
19.
Neuroradiology ; 34(4): 316-7, 1992.
Artículo en Inglés | MEDLINE | ID: mdl-1528442

RESUMEN

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.


Asunto(s)
Encefalopatías Metabólicas/genética , Encéfalo/patología , Displasia Ectodérmica/genética , Discapacidad Intelectual/genética , Imagen por Resonancia Magnética , Espasticidad Muscular/genética , Ganglios Basales/patología , Encefalopatías Metabólicas/diagnóstico , Ventrículos Cerebrales/patología , Niño , Displasia Ectodérmica/diagnóstico , Femenino , Humanos , Discapacidad Intelectual/diagnóstico , Espasticidad Muscular/diagnóstico
20.
Ann Genet ; 34(1): 30-2, 1991.
Artículo en Inglés | MEDLINE | ID: mdl-1952789

RESUMEN

The authors report on cytogenetic results of six patients with hypomelanosis of Ito. Karyotypes from peripheral lymphocytes prometaphases and skin fibroblasts metaphases were normal. A review of the literature revealed no specific chromosomal abnormality but a close association between mosaicism and HI syndrome. The X-chromosome was involved in 53% of the abnormal cases.


Asunto(s)
Aberraciones Cromosómicas , Trastornos de la Pigmentación/genética , Niño , Preescolar , Anomalías Congénitas/genética , Femenino , Fibroblastos/ultraestructura , Humanos , Linfocitos/ultraestructura , Masculino , Mosaicismo , Enfermedades del Sistema Nervioso/complicaciones , Enfermedades del Sistema Nervioso/genética , Fenotipo , Trastornos de la Pigmentación/complicaciones , Cromosoma X
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA