Asunto(s)
Brotes de Enfermedades , Inmunoglobulinas Intravenosas/uso terapéutico , Fiebre del Nilo Occidental/tratamiento farmacológico , Virus del Nilo Occidental , Anciano , Anticuerpos Antivirales/sangre , Anticuerpos Antivirales/líquido cefalorraquídeo , Femenino , Humanos , Israel/epidemiología , Resultado del Tratamiento , Fiebre del Nilo Occidental/fisiopatología , Fiebre del Nilo Occidental/virología , Virus del Nilo Occidental/inmunología , Virus del Nilo Occidental/aislamiento & purificaciónRESUMEN
We present 2 cases in which the transfusion of small volumes of packed RBC was sufficient to precipitate symptomatic hypocalcemia. Subsequent inquiry revealed that both of the patients had preexisting, untreated, and asymptomatic hypocalcemia, 1 following partial thyroidectomy many years earlier and the other with documented hypocalcemia but without a definitive diagnosis.
Asunto(s)
Transfusión de Eritrocitos/efectos adversos , Transfusión de Eritrocitos/métodos , Hipocalcemia/etiología , Adulto , Anciano , Femenino , HumanosRESUMEN
The aim of the study was to examine an aspect of male fertility in patients with Type 1 diabetes mellitus (n = 17) compared to healthy control subjects (n = 16) using parameters of sperm motility, measured using a computerized image analysis system (the Hamilton Thorn Research HTM-2030 Motility Analyzer), as indicators of potential fertility. Within the diabetic group no correlations were found between sperm motility and age, age of onset of diabetes, duration of diabetes or glycated haemoglobin. When the diabetic and control groups were compared, track speed, path velocity, progressive velocity, and lateral head displacement were not significantly different, whereas linearity and linear index, measures of straightness of swimming, were significantly greater in the diabetic subjects (59.2% vs 69.8%, p = 0.0005 and 76.4% vs 83.6%, p = 0.0016, respectively). We conclude that diabetic men, in the absence of complications, do not appear to be at a disadvantage in terms of sperm motility compared to healthy individuals.
Asunto(s)
Diabetes Mellitus Tipo 1/fisiopatología , Motilidad Espermática , Adulto , Análisis de Varianza , Intervalos de Confianza , Diabetes Mellitus Tipo 1/sangre , Hemoglobina Glucada/análisis , Humanos , Masculino , Microscopía por Video/métodos , Persona de Mediana Edad , Valores de ReferenciaRESUMEN
Although selective transsphenoidal surgery is an effective treatment for pituitary-dependent Cushing's syndrome the definition of cure as distinct from improvement is unclear. Complete tumor removal should be associated with very low serum cortisol levels because of long-term suppression of normal corticotrophs but the optimum timing of this investigation after surgery has not been established. Eleven consecutive patients with surgical and histological confirmation of a corticotroph adenoma removed at transsphenoidal surgery for proven Cushing's disease were studied with 0900 h serum cortisol levels at 5-14 days and 6-12 weeks postoperatively. Patients were maintained on hydrocortisone 10 mg three times daily (final dose at 1800 h) pending recovery of the hypothalamic-pituitary axis which was assessed by periodic short tetracosactrin tests and continued remission of the condition was confirmed by low dose dexamethasone suppression testing. All patients achieved clinical resolution of their disease but four subsequently developed biochemical evidence of recurrence with incomplete suppression on low dose dexamethasone testing at 2-48 months after surgery. These patients had 0900 h serum cortisol levels of 124, 95, 186, and 265 nmol/L at 5-14 days and 334, 52, 130, and 240 nmol/L at 6-12 weeks postoperatively. The remaining seven patients, who are in remission after 8-83 (median 24) months of follow-up, demonstrated 0900 h serum cortisol levels of 30-75 (median 31) nmol/L at 5-14 days but lower levels at 6-12 weeks (< 20 nmol/L in three patients and 22, 30, 30, and 33 nmol/L in the remainder). In this series, serum cortisol measurements at 6-12 weeks after transsphenoidal surgery for Cushing's disease are lower than levels obtained within 2 weeks of surgery and appear to give better discrimination of continuing remission; levels less than 35 nmol/L suggest a favorable long-term outcome.
Asunto(s)
Adenoma/cirugía , Síndrome de Cushing/cirugía , Neoplasias Hipofisarias/cirugía , Adulto , Anciano , Dexametasona , Femenino , Humanos , Hidrocortisona/sangre , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Periodo Posoperatorio , Factores de TiempoRESUMEN
Type 1 diabetes is associated with extended haplotypes defined by combinations of specific alleles of genes in the MHC. We have used pulsed field gel electrophoresis mapping to examine the gross structure of the Class II region of the MHC and its relationship to susceptibility to Type 1 diabetes. We have studied heterozygous members of a family in which susceptibility to Type 1 diabetes is associated with an A1/B8/DR3 haplotype and resistance with A2/B7/DR2, an unrelated diabetic DR3,4 patient and a healthy DR4,w10 subject and a DR2/Dw2 cell line. Digestion was performed with the enzymes Sst II, Mlu I, and Pvu I and hybridization with 21-hydroxylase, DRA, DQB, DOB and DPA probes. Within the DQ/DR region the DR4- and DR7-bearing haplotypes studied contain insertions of 140-150kb relative to the DR3 haplotypes whilst the DR2 haplotype in the family was smaller than the DR3 haplotypes by 130kb, whilst that in the cell line was smaller by up to 220kb. This cell line, previously thought to be homozygous by consanguinity, was also shown to be heterozygous in the DP region. Although no differences between diabetic and healthy subjects were observed within the family, these differences in long-range structure may be of importance to the etiology of Type 1 diabetes, as well as to the evolution of the MHC.
Asunto(s)
Mapeo Cromosómico , Diabetes Mellitus Tipo 1/genética , Haplotipos/genética , Complejo Mayor de Histocompatibilidad/genética , Sondas de ADN de HLA , Diabetes Mellitus Tipo 1/inmunología , Electroforesis/métodos , Femenino , Antígeno HLA-A1/genética , Antígeno HLA-B8/genética , Antígenos HLA-DQ/genética , Antígeno HLA-DR3/genética , Humanos , Masculino , Oxigenasas de Función Mixta/genética , LinajeRESUMEN
We investigated polymorphism of HLA-DP genes in three DR3 related diseases, confirming an association of coeliac disease with a Bgl II DP alpha polymorphism (a restriction fragment sized 3.5 kb present in 75% of patients compared to 34% of control subjects, p less than 0.001), and finding a weaker association with dermatitis herpetiformis (57% v 34%, p = 0.01) and no association with insulin dependent diabetes mellitus. The association with coeliac disease was further investigated. Msp I DP beta polymorphism was studied in 52 healthy subjects and 59 patients: a 4.9 kb fragment was present in 51% of patients with coeliac disease compared to 11.5% of control subjects (p less than 0.001). Furthermore, nearly all subjects with the DP alpha 3.5 kb fragment also had the DP beta 4.9 kb fragment. However, disease frequency was still increased in the DP alpha 3.5 positive/DP beta 4.9 negative group. In seven families, each with at least two affected members, while the DP alpha 3.5 fragment was frequently present in patients it did not preferentially segregate with any particular HLA haplotype--for example, those associated with DR3 or DR7--and therefore is not part of an extended haplotype associated with coeliac disease. We therefore conclude that a gene(s) in the HLA-DP region predisposes to coeliac disease independently of the HLA-DR/DQ regions.
Asunto(s)
Enfermedad Celíaca/genética , Antígenos HLA-DP/genética , Enfermedad Celíaca/inmunología , Familia , Femenino , Humanos , Masculino , Linaje , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
We have investigated the distribution of genotypes of a restriction fragment length polymorphism of the T-cell receptor beta-subunit gene in Caucasoid controls and patients with insulin-dependent diabetes mellitus, celiac disease, dermatitis herpetiformis, and idiopathic membranous nephropathy and also in South Indian controls and diabetics. We found no significant differences between the controls and patients with any disease in either ethnic group, a result which contrasts with previous reports of associations with both insulin-dependent diabetes mellitus and idiopathic membranous nephropathy. However, the most striking finding was a marked disparity between the genotype distribution in our Caucasoid control population and that previously reported by other investigators.
Asunto(s)
Enfermedades Autoinmunes/inmunología , Proteínas Bacterianas , Receptores de Antígenos de Linfocitos T/genética , Enfermedad Celíaca/inmunología , Desoxirribonucleasas de Localización Especificada Tipo II , Dermatitis Herpetiforme/inmunología , Diabetes Mellitus Tipo 1/inmunología , Glomerulonefritis Membranosa/inmunología , Antígeno HLA-DR3/inmunología , Humanos , India/etnología , Polimorfismo Genético , Polimorfismo de Longitud del Fragmento de Restricción , Receptores de Antígenos de Linfocitos T alfa-beta , Reino Unido , Población BlancaRESUMEN
Susceptibility to both insulin-dependent and non-insulin dependent diabetes mellitus is determined to a substantial extent by genetic factors. These probably interact with an environmental trigger to induce expression of the disease state. Significant progress has been made in defining these genetic factors in IDDM. The major contribution comes from a gene or genes within the HLA region, on the short arm of chromosome 6, at least one of which lies close to or within the DQ subregion. Other loci also contribute, most notably the insulin gene, or another closely linked gene on the short arm of chromosome 11, and possibly the T-cell receptor and immunoglobulin genes. In contrast very little is known for NIDDM and such associations as have been described remain controversial.
Asunto(s)
Diabetes Mellitus/genética , Mapeo Cromosómico , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 6 , Susceptibilidad a Enfermedades , Enfermedades en Gemelos , Antígenos HLA/genética , Humanos , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
In this study we have examined the results of probing with synthetic oligomers at the DR beta III locus, together with restriction fragment length polymorphisms defined by BglII digestion and a cDNA DR alpha probe, and Taq 1 digestion and a genomic DQ alpha probe. We have demonstrated heterogeneity of the human leukocyte antigen DR3 and close association of the DR alpha, DR beta III, and DX alpha genes. Two DR3-related preferential allelic associations have been identified, which may prove useful in family analysis as well as for investigations of DR3-related diseases.
Asunto(s)
Antígenos HLA-D/genética , Antígenos HLA-DQ , Antígenos HLA-DR/genética , Alelos , Enfermedad Celíaca/genética , Enfermedad Celíaca/inmunología , ADN/genética , Dermatitis Herpetiforme/genética , Dermatitis Herpetiforme/inmunología , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/inmunología , Subtipos Serológicos HLA-DR , Antígeno HLA-DR3 , Humanos , Polimorfismo de Longitud del Fragmento de Restricción , Conformación ProteicaRESUMEN
We have investigated DNA polymorphism of the class II alpha chain genes in HLA typed patients with insulin dependent diabetes mellitus (IDDM; n = 79), celiac disease (CD; n = 46), dermatitis herpetiformis (DH; n = 53), and controls (n = 86). Preferential allelic associations of HLA genes and gene products have thus been constructed for susceptibility to these diseases. DR alpha and DQ alpha gene polymorphisms indicated heterogeneity of HLA DR3, DRw6, and DR7, and HLA DR2 and DRw6, respectively. In DR7 positive CD patients a 3.8-kilobase (kb) DR alpha fragment, which correlated with DQw3, was found in only 11% of patients compared with 45% of corresponding controls (P less than 0.05). An increased frequency of a DX alpha genotype UU in all three diseases was found (IDDM 59%, DH 45%, CD 48%, compared to 21% in controls, P less than 0.001), which is not explained solely by the increased frequencies of DR3-DX alpha U. We therefore conclude part of the genetic susceptibility for these three conditions is encoded by genes within the DQ-DX subregion.