RESUMEN
OBJECTIVES: To evaluate the effectiveness of an innovative supervised exercise programme to mitigate the loss of lean body mass, functional capacity and quality of life in people with head and neck cancer, as well as to identify the optimal moment to apply it, before or after radiotherapy treatment, compared with the prescription of a physical activity plan carried out autonomously. METHODS: Patients with squamous cell carcinoma of the head and neck (n = 144), treated with radiotherapy, will be randomly assigned to one of 3 comparison groups: pre-radiotherapy supervised exercise, post-radiotherapy supervised exercise and autonomous exercise, stratifying by human papillomavirus infection and previous surgery. The exercise programme will be carried out in 36 sessions over 12 weeks, combining moderate and high intensity strength and aerobic exercises. The main outcome variable is the change in lean body mass at 6 months measured by bioimpedance, while secondary variables are functional capacity, symptoms, quality of life and adverse effects. Longitudinal generalised mixed models will be used for the analyses of the repeated measurements at 3, 6, and 12 months after baseline. CONCLUSIONS: The pilot study supports the feasibility and safety of the project. However, as the programme progressed, attendance at the sessions decreased. Strategies will be necessary for increasing attendance, as well as involving the patient in their recovery and other incentives. Follow-up after treatment to assess acute/late toxicity will enable us to know the response to both the exercise programme and its adherence. TRIAL REGISTRATION: NCT04658706 Date and version identifier: March 1, 2023. Version 1.1.
Asunto(s)
Terapia por Ejercicio , Neoplasias de Cabeza y Cuello , Humanos , Terapia por Ejercicio/métodos , Calidad de Vida , Proyectos Piloto , Ejercicio Físico , Neoplasias de Cabeza y Cuello/terapia , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire ABO coding sequence, splice junctions, proximal promoter, and intron 1 enhancer. Amplification products were sequenced by next-generation or Sanger dideoxy methods, either directly or after cloning into a bacterial plasmid vector. Eight unreported alleles were found in the 15 cases analyzed. Alleles ABO*A(28+1C) and ABO*A(29-5G) harbor variants that alter the consensus sequence at the intron 1 donor and acceptor splice sites, respectively. The other alleles harbor variants that alter the consensus sequence at transcription factor-binding sites in the intron 1 enhancer: specifically, ABO*A(28+5792T), ABO*A(28+5859A), and ABO*A(28+5860G) at GATA-1 sites; ABO*B(28+5877T) and ABO*B(28+5878G) at a RUNX1 site; and ABO*A(28+5843A) at or near a C/EBP site. Molecular and serologic characterization of ABO alleles can help in their future identification and in the resolution of discrepancies.Unusual and discrepant ABO phenotypes are often due to genetic variants that lead to altered levels or activity of ABO transferases and consequently to altered expression of ABO antigens. This report describes eight genetic alterations found in 15 cases with reduced or undetectable expression of ABO antigens. Forward and reverse ABO grouping was performed by standard gel or tube methods. Adsorption-heat elution and saliva testing for H and A substances followed the AABB technical manual procedures. Genomic DNA extracted from whole blood was PCR-amplified to cover the entire ABO coding sequence, splice junctions, proximal promoter, and intron 1 enhancer. Amplification products were sequenced by next-generation or Sanger dideoxy methods, either directly or after cloning into a bacterial plasmid vector. Eight unreported alleles were found in the 15 cases analyzed. Alleles ABO*A(28+1C) and ABO*A(295G) harbor variants that alter the consensus sequence at the intron 1 donor and acceptor splice sites, respectively. The other alleles harbor variants that alter the consensus sequence at transcription factorbinding sites in the intron 1 enhancer: specifically, ABO*A(28+5792T), ABO*A(28+5859A), and ABO*A(28+5860G) at GATA-1 sites; ABO*B(28+5877T) and ABO*B(28+5878G) at a RUNX1 site; and ABO*A(28+5843A) at or near a C/EBP site. Molecular and serologic characterization of ABO alleles can help in their future identification and in the resolution of discrepancies.
Asunto(s)
Sistema del Grupo Sanguíneo ABO , Sistema del Grupo Sanguíneo ABO/genética , Alelos , Humanos , Intrones , Mutación , FenotipoRESUMEN
Background: ConQoL questionnaire assesses health related quality of life among children with congenital heart diseases. It has a version for children aged 8 to 11 years and anotherfor children aged 12 to 16years. Aim: To validate ConQol questionnaire for Chilean children with a congenital heart disease. Material and Methods: Using a multicentric cross sectional design, 334 children from four hospitals (54% males), were surveyed. Among them 45% were aged 8 to 11 years and 55%, 12 to 16 years. The study involved three stages: cross cultural adjustment of the original questionnaire, pre-test study, and estimation of its psychometric properties. Content, construct and criterion validity and internal consistency with Cronbach's alpha, were assessed. Results: The version for children aged 8 to 11 years and comprised by three domains (symptoms, activity and relationships), obtained and α ≥ 0.60. In the questionnaire for children aged 12 to 16years, there is one more domain called coping, which obtained an α of 0.53, that was different to the other three domains that obtained an α > 0.70. The correlation between Health Quality of Life and Perception of Health Quality of Life was statistically significant for both groups. The association between Health Quality ofLife and health capability was only significant among children aged 12 to 16years (p < 0.01). Conclusions: The adapted ConQol questionnaire matched properly with the original one. The adapted questionnaire is valid and reliable to assess Health Quality ofLife among Chilean children with congenital heart diseases.
Asunto(s)
Adolescente , Niño , Femenino , Humanos , Masculino , Cardiopatías Congénitas/psicología , Calidad de Vida , Encuestas y Cuestionarios/normas , Chile , Estudios Transversales , Psicometría , Reproducibilidad de los ResultadosRESUMEN
Fueron analizadas retrospectivamente 27 pacientes con lesiones del tracto urinario tras cirugía ginecológica durante el periodo de estudio desde el 1 de enero de 2001 al 31 de diciembre de 2009, considerando tipo y momento de la lesión, métodos diagnósticos y manejo de las fístulas urinarias. En los 6276 procedimientos de cirugía ginecológica realizados, sucedieron 27 lesiones urológicas, lo cual supuso una incidencia de 0,43%, incluyendo 12 lesiones ureterales y 15 lesiones vesicales, con una incidencia de 0,19% y 0,24% respectivamente. Las lesiones del tracto urinario fueron diagnosticadas intraoperatoriamente en 15 pacientes (55,5%) y en el postoperatorio en 12 pacientes (44,5%). Las fístulas urinarias aparecieron en 9 pacientes (33%).La mayor parte de las lesiones del tracto urinario secundarias a la cirugía ginecológica tuvieron un resultado óptimo cuando se diagnosticaron temprano y se manejaron correctamente (AU)
We retrospectively analyzed 27 patients with urinary tract injuries who underwent gynecologic surgery from January 1, 2001 to December 31, 2009. The type and timing of injury, diagnostic methods and management of urinary fistulas were evaluated.Twenty-seven urological injuries were incurred during 6,276 gynecologic surgical procedures, representing an incidence of 0.43%. There were 12 urethral injuries and 15 bladder injuries, with an incidence of 0.19% and 0.24%, respectively. Urinary tract injury was diagnosed intraoperatively in 15 patients (55.5%) and postoperatively in 12 (44.5%). Urinary fistulas occurred in nine patients (33%).Most of the urinary tract injuries occurring in gynecologic surgery had optimal results when diagnosed early and managed correctly (AU)
Asunto(s)
Humanos , Femenino , /efectos adversos , Sistema Urinario/lesiones , Enfermedades de los Genitales Femeninos/cirugía , Enfermedad Iatrogénica , Estudios RetrospectivosRESUMEN
BACKGROUND: Cardiac tumors are very uncommon at all ages. There are important clinical differences between children and adults in the behavior of these tumors. AIM: To compare the behavior of primary and secondary cardiac tumors, from fetal age to adults. PATIENTS AND METHOD: Multicentric retrospective analysis of 38 children and adults with cardiac tumors, evaluated with echocardiography between January 1995 and August 2001. Medical records, echocardiographic and radiological examinations, surgical protocols and pathologic examinations were reviewed. Follow-up was obtained through data on medical records or calling patients by telephone. RESULTS: Tumors were diagnosed in 38 patients (13 children and 25 adults), from a total of 31.800 echocardiograms. In children the diagnosis was made by fetal, transthoracic or transesophageal echocardiography in 23.6% and 8% of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15%, secondary tumors. Fifty four percent were rhabdomyomas and 75% regressed spontaneously. Seventy seven percent were symptomatic and 31% were treated with surgery. During a follow up of 44+/-35 months, 31% of patients died. In adults, 76% of tumors were diagnosed by transthoracic and 20% by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24% secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84% were treated surgically. Twenty percent of patients died in the early postoperative period. No adult patients had a follow-up. CONCLUSIONS: Rhabdomyomas were solely found in children. In adults, myxomas are the predominant cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.
Asunto(s)
Neoplasias Cardíacas/diagnóstico por imagen , Rabdomioma/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Chile/epidemiología , Ecocardiografía , Femenino , Corazón Fetal/diagnóstico por imagen , Fibroma/diagnóstico por imagen , Fibroma/epidemiología , Estudios de Seguimiento , Neoplasias Cardíacas/epidemiología , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Mixoma/diagnóstico por imagen , Mixoma/epidemiología , Embarazo , Estudios Retrospectivos , Rabdomioma/epidemiología , Ultrasonografía PrenatalRESUMEN
Background: Cardiac tumors are very uncommon at all ages. There are important clinical differences between children and adults in the behavior of these tumors. Aim: To compare the behavior of primary and secondary cardiac tumors, from fetal age to adults. Patients and Method: Multicentric retrospective analysis of 38 children and adults with cardiac tumors, evaluated with echocardiography between January 1995 and August 2001. Medical records, echocardiographic and radiological examinations, surgical protocols and pathologic examinations were reviewed. Follow-up was obtained through data on medical records or calling patients by telephone. Results: Tumors were diagnosed in 38 patients (13 children and 25 adults), from a total of 31.800 echocardiograms. In children the diagnosis was made by fetal, transthoracic or transesophageal echocardiography in 23.6 percent and 8 percent of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15 percent, secondary tumors. Fifty four percent were rhabdomyomas and 75 percent regressed spontaneously. Seventy seven percent were symptomatic and 31 percent were treated with surgery. During a follow up of 44±35 months, 31 percent of patients died. In adults, 76 percent of tumors were diagnosed by transthoracic and 20 percent by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24 percent secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84 percent were treated surgically. Twenty percent of patients died in the early postoperative period. No adult patients had a follow-up. Conclusions: Rhabdomyomas were solely found in children. In adults, myxomas are the predominat cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.
Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Embarazo , Neoplasias Cardíacas , Rabdomioma , Chile/epidemiología , Ecocardiografía , Corazón Fetal , Fibroma/epidemiología , Fibroma , Estudios de Seguimiento , Neoplasias Cardíacas/epidemiología , Mixoma/epidemiología , Mixoma , Estudios Retrospectivos , Rabdomioma/epidemiología , Ultrasonografía PrenatalRESUMEN
Antecedentes: El reemplazo valvular mitral (RVM) y aórtico (RVA) es poco frecuente en pacientes pediátricos y las series publicadas reportan elevada morbi-mortalidad. Objetivo: Evaluar los resultados a mediano plazo en niños sometidos a RVM y RVA durante los últimos diez años, con el fin de determinar morbimortalidad y calidad de vida. Método: Análisis retrospectivo de 26 niños consecutivos (mediana de edad 5,6 años) sometidos a RVM y RVA, entre marzo 1992 y junio 2003. Diecisiete presentaban patología mitral y once aórtica. Resultados: Se realizaron 26 operaciones implantando 28 prótesis (26 mecánicas y 2 biológicas). Tres pacientes (12 por ciento) fallecieron durante el primer mes. La mediana de seguimiento fue de 6,2 años. Tres pacientes con RVM fallecieron alejadamente por causa no atribuible al reemplazo valvular con una sobrevida actuarial de 87 por ciento. Tres pacientes requirieron reoperación. Todos realizan actividades adecuadas a su edad, restringiéndose los deportes de contacto. Conclusión: Los resultados a mediano plazo del reemplazo valvular en niños con valvulopatía grave son satisfactorios.
Asunto(s)
Masculino , Adolescente , Humanos , Femenino , Lactante , Preescolar , Niño , Prótesis Valvulares Cardíacas , Implantación de Prótesis de Válvulas Cardíacas , Válvula Aórtica/cirugía , Válvula Mitral/cirugía , Anticoagulantes/uso terapéutico , Bioprótesis , Estudios de Seguimiento , Implantación de Prótesis de Válvulas Cardíacas/instrumentación , Implantación de Prótesis de Válvulas Cardíacas/mortalidad , Falla de Prótesis , Reoperación , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del TratamientoRESUMEN
Background : Streptococcus agalactiae or group B streptococcus, GBS, is the leading cause of neonatal and maternal infections and an opportunistic pathogen in adults with underlying disease. In the last decade, a dramatic increase in the resistance of this microorganism to erythromycin and clindamycin has been observed. Aim: To determine the serotype distribution and antimicrobial susceptibility of isolates of S agalactiae collected from infections and colonization and to assess the genetic mechanisms of macrolide and clindamycin resistance. Material and methods: A total of 100 GBS isolates were collected between 1998 and 2002, in Santiago, Chile. They were isolated from the amniotic fluid from patients with premature rupture of membranes (7 isolates), blood from neonatal sepsis (10 isolates), neonate colonizations (2 strains), skin and soft tissue infections (7 isolates), urinary tract infections (5 isolates), genital infections (3 isolates), articular fluid (one isolate), and 65 strains were recovered from vaginal colonization55. Results: Serotypes Ia, II and III were the predominant serotypes identified in our study, accounting for 90 (90 percent) of the strains. Five isolates belonged to serotypes Ib (5 percent) and two (2 percent) to serotype V respectively; no strains belonging to serotype IV were found. All strains were susceptible to penicillin G, ampicillin and cefotaxime, and four isolates (4 percent) were resistant to both erythromycin (MIC >64 µg/ml) and clindamycin (MIC >64 µg/ml). The strains had a constitutive macrolide-lincosamide-streptogramin (cMLSB) resistance phenotype and the erm(A) gene was present in the four isolates. Conclusions: Serotypes Ia, II and III were the predominant serotypes in this study. All strains were susceptible to penicillin G, ampicillin and cefotaxime, and four (4 percent) strains were resistant to both erythromycin and clindamycin. The cMLSB resistance phenotype, and the erm(A) gene was detected in resistant strains (Rev MÚd Chile 2004; 132: 549-55).
Asunto(s)
Streptococcus agalactiae/aislamiento & purificación , Streptococcus agalactiae , Ampicilina/farmacología , Cefotaxima/farmacología , Clindamicina/farmacología , Eritromicina/farmacocinética , Penicilinas/farmacología , Farmacorresistencia Microbiana , Serotipificación , Pruebas de Sensibilidad Microbiana/métodos , Tetraciclina/farmacologíaRESUMEN
Background: Norwood procedure is used as the first stage in the palliative treatment of the hypoplastic heart syndrome and can be used, with some technical modifications, in other forms of univentricular heart with aortic stenosis or hypoplasia. These patients have a high mortality (50 percent), derived from the procedure itself and from their abnormal physiological status. Aim: To report our experience with the Norwood procedure. Patients and methods: Retrospective analysis of all patients subjected to the Norwood procedure between February 2000 and June 2003. Results: Thirteen patients (9 females, age range 5-60 days and median weight of 3.3 kg) were operated. Eight had hypoplastic heart syndrome and five had a single ventricle with aortic arch hypoplasia. The diagnosis was done in utero in eight patients. All technical variations, according to the disposition and anatomy of the great vessels, are described. Cardiac arrest with profound hypothermia was used in all and regional cerebral perfusion was used in nine. Three patients died in the perioperative period and three died in the follow up (two, four and 10 months after the procedure). Gleen and Fontan procedures were completed in five and one patients, respectively. Conclusions: Our results with the Norwood procedure are similar to other series. There is an important mortality in the immediate operative period and prior to the Glenn procedure (Rev MÚd Chile 2004; 132: 556-63).
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Síndrome del Corazón Izquierdo Hipoplásico , Cardiopatías Congénitas/cirugía , Chile , Selección de PacienteRESUMEN
Background: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus. Aim: To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency. Patients and methods: A three years retrospective chart review from three hospitals of Santiago, Chile was conducted. We included patients with neonatal diagnosis of DiGeorge syndrome. Clinical and immuno-logic data were collected from their initial evaluation. Results: We found 9 patients with DiGeorge syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Three patients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallot and 1 had coarctation of aorta. Six patients had other malformations and associated diseases. FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients had low CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and 3,664/mm3, for CD4 T cells, between 224/mm3 and 2,649/mm3, for CD8 T cells, between 26/mm3 and 942/mm3. Three patients had CD4 T cells counts <400/mm3 and one had a phytohemagglutinin stimulation index <10. Airway malformations and primary hypoparathyroidism were present in 3 out of 4 patients that died before 18 months compared with the surviving patients (p=0.048). Conclusions: We found variable clinical manifestations as well as CD3, CD4 and CD8 T cell counts in patients with DiGeorge syndrome. Airway malformations were associated with a higher mortality (Rev Méd Chile 2004; 132: 26-32).
Asunto(s)
Humanos , Síndrome de DiGeorge/inmunología , Chile , Trastornos de los CromosomasRESUMEN
Introducción: El sistema inmune no es capaz de reconocer los cambios en células transformadas por mutaciones en la leucemia linfática crónica de estirpe B (LLC-B). Su incubación con linfocitos autólogos no induce citotoxicidad. Puede deberse a la ausencia de linfocitos T citotóxicos o a la incapacidad de las células de LLC en expresar moléculas coestimulatorias (CD80, CD86), a pesar de tener expresión de HLA clase I y II. El ADN bacteriano y los ODNs que contienen motivos PyNTTrrGT, CpG y otros motivos, pueden activar a los monocitos, las células dendríticas y los linfocitos B. Aparte, algunos ODNs tienen efectos directos sobre las células LLC-B. Material y métodos: se incubaron células leucémicas provenientes de 20 pts. con LLC-B con 3 diferentes ODNs: a) IMT504, con motivos PyNTTrrGT b) 2006 con motivos CpG y c) ODN inactivo de control. Previo y posterior a la incubación se efectuaron determinaciones de CD80, CD86, CD40, MHC clase I y II, CD5, CD19 y CD20 por citometría de flujo. Además se determinó (por medio de la detección de fosfatidilserina por la unión ala Anexina V) la capacidad de inducir la apotosis de las células transformadas, y se estudió la morfología de las células en cultivo. Resultados: Se observó el aumento de la detección de fosfatidilserina por la unión ala Anexina V) la capacidad de inducir la apotosis de las células transformadas, y se estudió la morfología de las células en cultivo. Resultados: Se observó el aumento de la expresión de CD80, CD86 y CD40 en las células incubadas con IMT504 y 2006. Además las células LLC-B expresaron significativamente mayor cantidad de Anexina v. La morfología de las células en cultivo a largo plazo mostró las características de apoptosis. Los estudios efectuados con el ODN de control no mostraron ninguna de las características descritas. Conclusión: La incubación de ODN con motivos PyNTTTTGT (IMT504) y con motivos CpG (2006) induce en las células de LLC-B un fenotipo considerado de células presentadoras de antígenos, y además apoptosis. Perspectiva: En otros estudios preclínicos y clínicos los ODNs han demostrado muy baja toxicidad, lo que permitiria efectuar estudios de Fase I/II en LLC-B
Asunto(s)
Leucemia Linfocítica Crónica de Células B , OligonucleótidosRESUMEN
Introducción: El sistema inmune no es capaz de reconocer los cambios en células transformadas por mutaciones en la leucemia linfática crónica de estirpe B (LLC-B). Su incubación con linfocitos autólogos no induce citotoxicidad. Puede deberse a la ausencia de linfocitos T citotóxicos o a la incapacidad de las células de LLC en expresar moléculas coestimulatorias (CD80, CD86), a pesar de tener expresión de HLA clase I y II. El ADN bacteriano y los ODNs que contienen motivos PyNTTrrGT, CpG y otros motivos, pueden activar a los monocitos, las células dendríticas y los linfocitos B. Aparte, algunos ODNs tienen efectos directos sobre las células LLC-B. Material y métodos: se incubaron células leucémicas provenientes de 20 pts. con LLC-B con 3 diferentes ODNs: a) IMT504, con motivos PyNTTrrGT b) 2006 con motivos CpG y c) ODN inactivo de control. Previo y posterior a la incubación se efectuaron determinaciones de CD80, CD86, CD40, MHC clase I y II, CD5, CD19 y CD20 por citometría de flujo. Además se determinó (por medio de la detección de fosfatidilserina por la unión ala Anexina V) la capacidad de inducir la apotosis de las células transformadas, y se estudió la morfología de las células en cultivo. Resultados: Se observó el aumento de la detección de fosfatidilserina por la unión ala Anexina V) la capacidad de inducir la apotosis de las células transformadas, y se estudió la morfología de las células en cultivo. Resultados: Se observó el aumento de la expresión de CD80, CD86 y CD40 en las células incubadas con IMT504 y 2006. Además las células LLC-B expresaron significativamente mayor cantidad de Anexina v. La morfología de las células en cultivo a largo plazo mostró las características de apoptosis. Los estudios efectuados con el ODN de control no mostraron ninguna de las características descritas. Conclusión: La incubación de ODN con motivos PyNTTTTGT (IMT504) y con motivos CpG (2006) induce en las células de LLC-B un fenotipo considerado de células presentadoras de antígenos, y además apoptosis. Perspectiva: En otros estudios preclínicos y clínicos los ODNs han demostrado muy baja toxicidad, lo que permitiria efectuar estudios de Fase I/II en LLC-B(AU)
Asunto(s)
Oligonucleótidos , Leucemia Linfocítica Crónica de Células BRESUMEN
Between 1994-2001 we have performed 57 bone biopsies for diagnostic purposes in symptomatic CRF patients. We analyzed here 52 samples where the material was optimal for study, and divided them into 2 periods according to when the biopsy was performed: 1994-1996 and 1997-2001, to verify changes in the spectrum of renal osteodystrophy. Mean serum values were: serum calcium 9.9 +/- 1.8 mg/dl, phosphate 5.8 +/- 3.2 mg/dl, alkaline phosphatase 693.9 +/- 968.9 Ul/L, iPTH 562.0 +/- 598.5 pg/ml, serum aluminum 65.7 +/- 79.3 ug/L and bone aluminum 22.8 +/- 22.4 ug/g. Hyperparathyroidism was the most common histological diagnosis as severe in 13 patients (25%), or as mild in 14 (27%). Ten patients had osteomalacia (19%), adynamic bone disease was diagnosed in 5 (9.6%) and mixed renal osteodystrophy in 10 (19.2%). Low bone turnover patients showed higher bone and serum aluminum than high bone turnover patients. We observed a relative increment in high turnover bone disease in the later period (1997-2001) without changes in low turnover bone disease. These data showed a high prevalence of hyperparathyroidism and aluminum-related low turnover bone disease, with no significant changes between the two time-periods analyzed here.
Asunto(s)
Huesos/patología , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/epidemiología , Adolescente , Adulto , Anciano , Fosfatasa Alcalina/sangre , Aluminio/análisis , Argentina/epidemiología , Biomarcadores , Biopsia , Remodelación Ósea , Huesos/química , Calcio/sangre , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/sangre , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/etiología , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/patología , Femenino , Humanos , Fallo Renal Crónico/sangre , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/patología , Masculino , Persona de Mediana Edad , Hormona Paratiroidea/sangre , Fósforo/sangreRESUMEN
Mostramos el tipo histológico de osteodistrofia renal en pacientes de Argentina. Entre 1994 y 2001 biopsiamos 57 pacientes con IRC que poseían signos y/o síntomas de osteodistrofia renal. Analizamos las muestras de 52 pacientes cuyo material resultó apto para su estudio y para observar la evolución en el tiempo los dividimos en biopsias realizadas entre 1994-1996 y 1997-2001. Los valores bioquímicos encontrados fueron: calcio sérico 9,9 ± 1,8 mg/dl, fósforo 5,8 ± 3,2 mg/dl, FA 693,9 ± 968,9 UI/L, PTHi 562,0 ± 598,5 pg/ml, aluminio sérico 65,7 ± 79,3 ug/L y óseo 22,8 ± 22,4 ug/g. El diagnóstico histológico fue hiperparatiroidismo severo en 13 pacientes (25%), hiperparatiroidismo leve en 14 (27%), osteomalacia en 10 (19%), enfermedad ósea adinámica en 5 (9,6%) y formas mixtas en 10 (19,2%). Los pacientes con formas histológicas de bajo remodelado mostraron niveles significativamente superiores de aluminio sérico y óseo respecto a los de alto remodelado. En el período 1997-2001 hubo un incremento relativo de las formas histológicas de alto remodelado con respecto al período 1994-1996 (64 vs 40,7%), sin cambios en las de bajo remodelado. Estos datos sugieren una elevada prevalencia de formas de alto remodelado en relación al hiperparatiroidismo y de bajo remodelado relacionadas al aluminio (AU)
Between 1994-2001 we have performed 57 bone biopsies for diagnostic purposes in symptomatic CRF patients. We analyzed here 52 samples where the material was optimal for study, and divided them into 2 periods according to when the biopsy was performed: 1994-1996 and 1997-2001, to verify changes in the spectrum of renal osteodystrophy. Mean serum values were: serum calcium 9.9 ± 1.8 mg/dl, phosphate 5.8 ± 3.2 mg/dl, alkaline phosphatase 693.9 ± 968.9 UI/L, iPTH 562.0 ± 598.5 pg/ml, serum aluminum 65.7 ± 79.3 ug/L and bone aluminum 22.8 ± 22.4 ug/g. Hyperparathyroidism was the most common histological diagnosis as severe in 13 patients (25%), or as mild in 14 (27%). Ten patients had osteomalacia (19%), adynamic bone disease was diagnosed in 5 (9.6%) and mixed renal osteodystrophy in 10 (19.2%). Low bone turnover patients showed higher bone and serum aluminum than high bone turnover patients. We observed a relative increment in high turnover bone disease in the later period (1997-2001) without changes in low turnover bone disease. These data showed a high prevalence of hyperparathyroidism and aluminumrelated low turnover bone disease, with no significant changes between the two time-periods analyzed here (AU)
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/epidemiología , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/sangre , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/etiología , Trastorno Mineral y Óseo Asociado a la Enfermedad Renal Crónica/patología , Huesos/patología , Huesos/química , Hormona Paratiroidea/sangre , Fosfatasa Alcalina/sangre , Aluminio/análisis , Argentina/epidemiología , Biopsia , Calcio/sangre , Fósforo/sangre , Fallo Renal Crónico/sangre , Fallo Renal Crónico/patología , Fallo Renal Crónico/complicaciones , Biomarcadores , Remodelación ÓseaRESUMEN
Objetivo: evaluar retrospectivamente el rendimiento del cierre del ductus arterioso persistente (DAP) con técnica transcatéter, utilizando espirales (coils) de Gianturco. Pacientes y Métodos: entre octubre de 1996 y septiembre de 2000, 22 pacientes de peso mayor de 10 kg (10,5 a 59), portadores de DAP de hasta 4 mm en su diámetro menor, fueron sometidos a esta técnica de cierre. Bajo sedación con midazolam y ketamina, se efectuó sondeo cardíaco vía arteria y vena femoral derechas, y aortografía. Por medio de un catéter multipropósito se avanzó espiral de Gianturco a través del ductus desde su extremo aórtico hasta posicionario en el DAP. Resultados: se logró cierre angiográfico ductal en 22 pacientes (100 por ciento), observándose mínima filtración residual por ecocardiograma con Doppier color en 3 pacientes (14 por ciento), consignándose ausencia de filtración a los 15 días en dos de ellos. Todos los pacientes fueron dados de alta a las 24 horas. Cuatro pacientes presentaron embolización del espiral, los que fueron recuperados durante el procedimiento. Conclusión: el cierre transcateterismo de DAP con espirales de Gianturco es una técnica segura y efectiva, contituyendo una muy buena alternativa al cierre quirúrgico, con el beneficio adicional de no requerir anestesia general ni toracotomía
Asunto(s)
Humanos , Masculino , Adolescente , Adulto , Femenino , Lactante , Preescolar , Cateterismo Cardíaco/instrumentación , Conducto Arterioso Permeable , Embolización Terapéutica/instrumentación , Aortografía , Cateterismo Cardíaco/métodos , Conducto Arterioso Permeable , Embolización Terapéutica/métodos , Estudios RetrospectivosRESUMEN
The exact processes by which interstellar matter condenses to form young stars are of great interest, in part because they bear on the formation of planets like our own from the material that fails to become part of the star. Theoretical models suggest that ejection of gas during early phases of stellar evolution is a key mechanism for removing excess angular momentum, thereby allowing material to drift inwards towards the star through an accretion disk. Such ejections also limit the mass that can be accumulated by the stellar core. To date, these ejections have been observed to be bipolar and highly collimated, in agreement with theory. Here we report observations at very high angular resolution of the proper motions of an arc of water-vapour masers near a very young, massive star in Cepheus. We find that the arc of masers can be fitted to a circle with an accuracy of one part in a thousand, and that the structure is expanding. Only a sphere will always produce a circle in projection, so our observations strongly suggest that the perfectly spherical ejection of material from this star took place about 33 years earlier. The spherical symmetry of the ejecta and its episodic nature are very surprising in the light of present theories.
RESUMEN
Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications
Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Cromosomas Humanos Par 22/genética , Deleción Cromosómica , Aberraciones Cromosómicas/genética , Fenotipo , Hibridación in Situ , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/etiologíaRESUMEN
En los últimos años se ha observado un progresivo aumento de publicaciones que describen alteraciones del ritmo cardíaco graves, e incluso muerte súbita, en pacientes pediátricos que reciben fármacos habituales de la terapéutica pediátrica. Entre los fármacos mencionados destacan cisaprida y otros de uso gastroenterológico, antibióticos macrólidos, antifúngicos, antihistamínicos y psicotrópicos. Estas complicaciones son poco frecuentes, ocurren en relación a sobredosis, uso combinado de ellos o en determinadas condiciones de mayor susceptibilidad de los pacientes. Estos fármacos pueden prolongar anormalmente el intervalo QT del electrocardiograma, lo que predispone a arritmias ventriculares graves y a muerte súbita. Se revisan algunos de estos fármacos, se describen los mecanismos a través de los cuales producen estas arritmias y se dan recomendaciones para su uso seguro en pediatría, especialmente en pacientes con mayor susceptibilidad, y así prevenir esta seria complicación de la farmacoterapia pediátrica