RESUMEN
Intrapartum fetal surveillance for early detection of fetal acidosis in clinical practice focuses on reducing neonatal morbidity via early detection. It is the subject of on going research studies attempting notably to improve detection performance by reducing false positive rate. In that context, the present contribution tailors to fetal heart rate variability analysis a graph-based dimensionality reduction procedure performed on scattering coefficients. Applied to a high quality and well-documented database constituted by obstetricians from a French academic hospital, the low dimensional embedding enables to distinguish between the temporal dynamics of healthy and acidotic fetuses, as well as to achieve satisfactory detection performance detection compared to those obtained by the clinical-benchmark FIGO criteria.
Asunto(s)
Algoritmos , Frecuencia Cardíaca Fetal/fisiología , Femenino , Humanos , Embarazo , Factores de TiempoRESUMEN
Amyloidosis is a spectrum of disease characterized by the abnormal deposition of fibril amyloid-related proteins in the extracellular space. The most common types of amyloidosis are AL and AA amyloidosis. Amyloidosis is also classified according to the extent of the deposition as systemic or localized. Respiratory amyloidosis is classified as laryngeal, tracheobronchial or parenchymal amyloidosis. Tracheobronchial amyloidosis is classically known as a rare manifestation of the localized disease. A few cases only of systemic amyloidosis presenting as a tracheobronchial disease have been reported. We here report a 26-year-old man who presented with hemoptysis related to a systemic tracheal primary amyloidosis.
Asunto(s)
Amiloidosis/complicaciones , Enfermedades Bronquiales/etiología , Enfermedades de la Tráquea/etiología , Adulto , Humanos , MasculinoRESUMEN
BACKGROUND AND PURPOSE: Endothelial nitric oxide synthase (eNOS) gene polymorphisms were associated with reduced NO production, and were evaluated as risk factors for ischemic stroke (IS). We investigated the association between eNOS gene -786T>C (promoter), 27-bp repeat 4b/4a (intron 4), and Glu298Asp (exon 7) polymorphisms with IS in 329 IS patients and 444 controls. MATERIALS AND METHODS: Glu298Asp and -786T>C genotyping was done by PCR-RFLP, 4b/4a was assessed by PCR-ASA. The contribution of eNOS polymorphisms to IS was analyzed by haplotype and multivariate regression analysis. RESULTS: Higher frequency of 298Asp allele was seen in IS patients (P = 1.2 x 10(-10)), which remained independently associated with IS on multivariate analysis after controlling for traditional cerebrovascular risk factors. Allele and genotype distribution of 4b/4a and -786T>C polymorphisms were comparable between patient and controls. Significantly higher prevalence of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes were seen in IS cases, thus conferring a disease susceptibility nature to these haplotypes. Multivariate regression analysis confirmed the association of 298Asp/4b/-786T and 298Asp/4b/-786C haplotypes, and in addition identified 298Asp/4a/-786T haplotype to be independently associated with IS, after controlling for traditional cerebrovascular risk factors. CONCLUSIONS: Genetic variation at the eNOS locus represent genetic risk factor for increased susceptibility to IS.
Asunto(s)
Isquemia Encefálica/genética , Predisposición Genética a la Enfermedad , Óxido Nítrico Sintasa de Tipo III/genética , Polimorfismo Genético , Accidente Cerebrovascular/genética , Isquemia Encefálica/sangre , Estudios de Casos y Controles , Exones , Femenino , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Intrones , Masculino , Persona de Mediana Edad , Mutación Missense , Mutación Puntual , Regiones Promotoras Genéticas , Secuencias Repetitivas de Ácidos Nucleicos , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/sangreRESUMEN
OBJECTIVE: The association of renin C-4063T and angiotensinogen (AGT) T174M, AGT M235T and AGT A-6G polymorphisms with ischemic stroke of atherosclerotic etiology was investigated in 329 Tunisian patients with stroke and 444 controls. MATERIALS AND METHODS: Genotyping was performed using PCR-RFLP and the contributions of polymorphisms to the risk of stroke were analyzed using haplotype and multivariate regression analysis. RESULTS: AGT 235T and AGT-6G allele and AGT 235T/T, AGT-6A/G and AGT-6G/G genotype frequencies were higher in patients. Linkage disequilibrium (LD) was noted for AGT174T with AGT235M and AGT(-6)A in patients, while AGT235M was in LD with AGT(-6)A in controls and AGT235T was in LD with AGT(-6)G in both groups. The AGT 174T/235T/-6A and AGT 174T/235M/-6G haplotypes were positively and negatively associated with stroke respectively. Multivariate regression analysis identified AGT 174T/235M/-6A, AGT 174T/235T/-6G, AGT 174T/235T/-6A and AGT 174M/235T/-6A haplotypes to be significantly associated with an increased risk of stroke. CONCLUSIONS: Renin-angiotensin-aldosterone system polymorphisms influence the risk of atherosclerotic stroke in Tunisians.
Asunto(s)
Angiotensinógeno/genética , Predisposición Genética a la Enfermedad , Arteriosclerosis Intracraneal/genética , Renina/genética , Accidente Cerebrovascular/genética , Femenino , Genotipo , Haplotipos , Humanos , Arteriosclerosis Intracraneal/complicaciones , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Sistema Renina-Angiotensina/genética , Factores de Riesgo , Accidente Cerebrovascular/etiología , TúnezRESUMEN
BACKGROUND AND AIM: Decrease in heart rate variability (HRV) is a known risk factor for cardiovascular morbidity and mortality. The aim of our study is to evaluate HRV in chronic hemodialysis patients and to determine factors that might decrease or increase it. METHODS: This is a retrospective study including 51 patients, 23 males and 28 females, with a mean of age of 64.5 years (23-84 years) on chronic hemodialysis for end stage renal disease due to various causes. Twenty-four-hour heart rate monitoring was recorded in all patients to evaluate HRV. HRV of hemodialysis patients was compared to normal patients (control). We also looked for correlation between HRV and a number of clinical and biological factors. RESULTS: All HRV parameters were decreased in chronic hemodialysis patients compared to normal controls with a significant difference (p<0.0005). HRV decreases with age (p=0.012), and is lower in diabetic patients (p=0.026). Interestingly, we found that chronic hemodialysis patients on beta-blockers had higher HRV with p=0.011. CONCLUSION: HRV is reduced in chronic hemodialysis patients mainly in old and diabetic patients, but this decrease is less important in those receiving beta-blockers.
Asunto(s)
Frecuencia Cardíaca , Fallo Renal Crónico/fisiopatología , Fallo Renal Crónico/terapia , Diálisis Renal , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades Cardiovasculares/etiología , Femenino , Humanos , Fallo Renal Crónico/complicaciones , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de RiesgoRESUMEN
A retrospective study was conducted on all kidney transplantations performed between January 1993 and June 1996 in our multidisciplinary pediatric department. Thirteen children with a mean age of 6 years (3.5-12) were transplanted during the study period after an average waiting time of 2 years on dialysis for cadaveric transplants and 3.5 months for living related ones. No urologic complication was noted; however, intra-abdominal approach was decided to be performed only in children less than 9 kg. This decision was taken after the occurrence of one intestinal intussusception and two ileal obstructions. During these 3.5 years, five rejection episodes were treated: three were steroid responsive, two were resistant but responded respectively to plasmapheresis and to OKT3. The actuarial survival of the grafts and recipients were 100% for an average mean time of follow-up of 18 months. The latest serum creatinine and creatinine clearance averages were respectively 66 mumol/l and 105 ml/min/1.73 m2. In seven transplanted children for more than 18 months growth was satisfactory. Eleven children returned to school. Kidney transplantation is the optimal treatment for children and infants with chronic renal failure; however, this technique needs a highly experienced team and a permanent close follow-up. Some children with end stage renal disease can directly have preemptive transplantation which is becoming our recent choice to avoid the hemodialysis strain.
Asunto(s)
Fallo Renal Crónico/cirugía , Trasplante de Riñón , Complicaciones Posoperatorias/etiología , Niño , Preescolar , Femenino , Rechazo de Injerto/etiología , Rechazo de Injerto/mortalidad , Humanos , Fallo Renal Crónico/mortalidad , Líbano , Masculino , Complicaciones Posoperatorias/mortalidad , Análisis de Supervivencia , Resultado del TratamientoRESUMEN
A retrospective study was conducted in June 1997 concerning all Lebanese children with end stage renal failure. This study was able to recognize 20 children and infants (age less than 15) dialysed regularly in 8 hemodialysis centers. The other 23 centers are not following children. Thirteen children are dialysed on bicarbonate and seven on acetate. Children receive erythropoietin occasionally; 30% of them are polytransfused, 60% of them suffer from anemia. Four children have never received immunization against hepatitis B and three are seropositive for hepatitis C. None of these children has regular school attendance and psychological support for the child and his family do not exist. We conclude that the situation of children on hemodialysis in Lebanon is alarming. Solutions are possible and available; they need to be undertaken urgently.
Asunto(s)
Fallo Renal Crónico/terapia , Diálisis Renal , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Fallo Renal Crónico/epidemiología , Líbano/epidemiología , Masculino , Evaluación de Necesidades , Grupo de Atención al Paciente , Estudios RetrospectivosRESUMEN
We report the case of a 10-year-old girl who received a cadaveric kidney transplant for oxalosis after a period of 12 months on hemodialysis. The donor was a 6-year-old child. Cold ischemia was four hours. Diuresis occurred immediately in the operating room. Mean daily diuresis was maintained at 8 liters: first by i.v. perfusion, then by nocturnal continuous nasogastric hydration. In addition to the usual immunosuppressive drugs, she received pyridoxine, sodium citrate, phosphate, hydrochlorothiazide and magnesium. Daily hemodialysis was performed from Day 1 to Day 9 and four additional sessions every other day. The postoperative course was satisfactory. Oxaluria was elevated initially at 1074 mg/24 h (normal < 50 mg/24 h). One year later, mean daily diuresis is still 8 liters, renal function is normal and oxaluria is at 296 mg/24 h. Repeated graft sonography showed no nephrocalcinosis, but mild oxalate deposits are noted on renal biopsy. Isolated renal transplantation was successful in our patient. It allowed us to stop hemodialysis and to avoid extra-renal accumulation of oxalate. Despite this success, we are convinced that long term prognosis is uncertain and liver transplantation should be realized to correct definitely the biochemical defect.
Asunto(s)
Hiperoxaluria Primaria/terapia , Fallo Renal Crónico/terapia , Trasplante de Riñón , Diálisis Renal , Biopsia , Niño , Terapia Combinada , Femenino , Humanos , Hiperoxaluria Primaria/patología , Riñón/patología , Fallo Renal Crónico/patología , Pruebas de Función Renal , Trasplante HomólogoRESUMEN
Vascular rejection in a transplanted child is frequently associated with bad prognosis on the short and long term. All therapeutic modalities available nowadays as monoclonal antibodies, intravenous cyclosporine or plasma exchange have given conflicting results. We report the case of a boy who was transplanted from his mother at the age of three. His primary disease was a cortico-resistant rapidly progressive glomerulonephritis; the immediate postoperative period was satisfactory but he developed a severe vascular rejection on day 5 post-transplantation, while on triple immunosuppression therapy associating antithymocyte globuline, prednisolone and azathioprine. Acute vascular rejection was corticoresistant but responded well to plasma exchange. In our patient, we believe that plasmapheresis was efficaceous on the reversibility of vascular rejection and moreover that he had not responded to corticotherapy even a week post methylprednisolone in the absence of any change in immunosuppression during plasmapheresis. No randomized study was realized until now to prove the efficacy of plasmapheresis in children with vascular rejection. The sporadic cases reported on the reversibility of such rejection after plasmapheresis, the innocuity of this therapy, if well performed in children, encourage us to consider this treatment modality in resistant vascular rejection.
Asunto(s)
Rechazo de Injerto/terapia , Trasplante de Riñón/efectos adversos , Intercambio Plasmático , Enfermedad Aguda , Preescolar , Terapia Combinada , Rechazo de Injerto/etiología , Rechazo de Injerto/inmunología , Humanos , Inmunosupresores/uso terapéutico , Masculino , PlasmaféresisRESUMEN
Pseudotumor cerebri is a syndrome characterized by intracranial hypertension (intracranial pressure >200 mmH2O) and a normal ventricular system. The diagnosis should be made as early as possible to prevent impairment of vision. Several diseases have been reported in association with pseudotumor cerebri in pediatric patients, and have been occasionally also noted with chronic renal failure, heart and renal transplantation. We report a 7-year-old boy who complained of severe headaches and visual impairment 2 years after hemodialysis for renal hypoplasia. Pseudotumor cerebri was suspected and, despite treatment with corticosteroids, acetazolamide, and lumboperitoneal diversion, visual impairment worsened. Bilateral optic nerve sheath decompression (ONSD) was performed without success and the child completely lost his vision within 2 weeks. He was successfully transplanted 2 months later. Two years post transplantation, the blind child has a normal renal function and school performance. Pseudotumor cerebri must be rapidly suspected in a child with renal failure suffering from headaches and papilledema. Visual loss may progress rapidly and ONSD seems to be the best surgical treatment when medical treatment fails. In this patient renal transplantation was well tolerated, with no deterioration in the neurological status over 2 years of follow-up.
Asunto(s)
Fallo Renal Crónico/complicaciones , Trasplante de Riñón , Seudotumor Cerebral/complicaciones , Ceguera/etiología , Niño , Humanos , Fallo Renal Crónico/terapia , Masculino , Enfermedades del Nervio Óptico/etiología , Enfermedades del Nervio Óptico/cirugía , Diálisis RenalRESUMEN
Percutaneous renal biopsy in children is a safe procedure. It is used for definitive diagnosis, prognosis and evaluation of the response to therapy. Repeated percutaneous biopsies are currently performed especially in allograft kidneys and in native kidneys as well. No major complications were noted in our series. The use of the new automated technique with small disposable needles in a well sedated child and experienced operator minimizes the complication rate. The important clinical benefit of the percutaneous renal biopsy overcomes the minimal risk of the procedure. Mesangiocapillary glomerulonephritis and focal segmental glomerulosclerosis are the predominant histological findings in our series. More data from other centers are necessary to evaluate the real incidence of the different entities of renal diseases in our country.
Asunto(s)
Biopsia con Aguja , Riñón/patología , Adolescente , Factores de Edad , Biopsia con Aguja/efectos adversos , Niño , Preescolar , Femenino , Glomerulonefritis/patología , Glomeruloesclerosis Focal y Segmentaria/patología , Humanos , Lactante , Recién Nacido , Trasplante de Riñón , Líbano , Masculino , Síndrome Nefrótico/patología , Estudios RetrospectivosRESUMEN
Involvement of the thyroid gland in systemic amyloidosis is known since 1855, most frequently histologic than clinical. We report here a case of systemic amyloidosis associated with myxedema and Hashimoto's thyroiditis which has been rarely reported in the literature, and may represent a new example of auto-immune diseases associated with systemic amyloidosis.