Analysis of the reasons for requesting HIV serology in the emergency department other than those defined in the targeted screening strategy of the "Urgències VIHgila" program and its potential inclusion in a future consensus document.

OBJECTIVE: To describe other reasons for requesting HIV serology in emergency departments (ED) other than the 6 defined in the SEMES-GESIDA consensus document (DC-SEMES-GESIDA) and to analyze whether it would be efficient to include any of them in the future. METHODS: Review of all HIV serologies performed during 2 years in 20 Catalan EDs. Serologies requested for reasons not defined by the DC-SEMES-GESIDA were grouped by common conditions, the prevalence (IC95%) of seropositivity for each condition was calculated, and those whose 95% confidence lower limit was >0.1% were considered efficient. Sensitivity analysis considered that serology would have been performed on 20% of cases attended and the remaining 80% would have been seronegative. RESULTS: There were 8044 serologies performed for 248 conditions not recommended by DC-SEMES-GESIDA, in 17 there were seropositive, and in 12 the performance of HIV serology would be efficient. The highest prevalence of detection corresponded to patients from endemic countries (7.41%, 0.91-24.3), lymphopenia (4.76%, 0.12-23.8), plateletopenia (4.37%, 1.20-10.9), adenopathy (3.45%, 0.42-11.9), meningoencephalitis (3.12%, 0.38-10.8) and drug use (2.50%, 0.68-6.28). Sensitivity analysis confirmed efficiency in 6 of them: endemic country origin, plateletopenia, drug abuse, toxic syndrome, behavioral-confusional disorder-agitation and fever of unknown origin. CONCLUSION: The DC-SEMES-GESIDA targeted HIV screening strategy in the ED could efficiently include other circumstances not previously considered; the most cost-effective would be origin from an endemic country, plateletopenia, drug abuse, toxic syndrome, behavioral-confusional-agitation disorder and fever of unknown origin.

First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.

Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disorder characterized by the proliferation and infiltration of macrophages and hyperactivated T lymphocytes that escape from the physiological control pathways and favour the existence of an environment of excessive inflammation and tissue destruction. HLH has been classified into two types: a primary or familial autosomal recessive form, caused by mutations in genes encoding proteins involved in the granule-dependent cytotoxic pathway (familial hemophagocytic lymphohistiocytosis [FHL] types 1-5); and other secondary or acquired form, generally associated with infections, malignancy, autoimmune diseases, metabolic disorders or primary immunodeficiencies. Since the first familial hemophagocytic lymphohistiocytosis-2 (FHL2) causative mutation in the PRF1 gene was described in 1999, more than 200 mutations have been identified to date. Here, we report the first case of very late-onset FHL2 in a Spanish 72-year-old female with splenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia and marrow hemophagocytosis harbouring in heterozygosity two PRF1 variants proposed as causative in this study. The heterozygous mutation c.445G>A (p.Gly149Ser) identified in the exon 2 results in a missense mutation previously described as a probable pathogenic variant associated with the development of FHL2. Affecting the same exon, c.272C>T (p.Ala91Val) is the most prevalent variant of this gene. Although it was initially classified as benign, recent studies support its potential pathogenic role, considering it a variant of uncertain significance associated with a risk of developing FHL2. The genetic confirmation of FHL made possible an adequate counselling to the patient and direct relatives and provided important information for her control and follow-up.

Factores asociados con displasia de alto grado y cáncer en adenomas colorrectales / Associated factors with high grade dysplasia and cancer in colorectal adenomas

Con el objetivo de determinar los factores de riesgo asociados a displasia de alto grado(DAG) y cáncer (CA), se estudiaron en forma prospectiva todos los pólipos colorrectados durante un período de dos años y medio (6/91 a 12/93). Las variables analizadas fueron: edad, sexo y síntomas de presentación de los pacientes y números, localización, tamaño e histología de los pólipos. Los adenomas fueron clasificados de acuerdo con el porcentaje de componente velloso en: tubulares y vellosos A (1 por ciento-25 por ciento de componente velloso), vellosos B (26 por ciento-75 por ciento), vellosos C (76 por ciento-99 por ciento) y vellosos D (100 por ciento). Se resecaron 100 pólipos en 67 pacientes (1.49 pólipos/paciente). La edad promedio fue 63.9 +/- 10.3 años y 47 eran hombres (70 por ciento). El motivo de consulta más frecuente fue la hematoquezia (46 por ciento) y todos estos pacientes presentaron pólipos en recto y colon sigmoides. Noventa y tres (93 por ciento) pólipos fueron adenomas: tubulares 40 (43 por ciento), vellosos A 17 (18 por ciento). velloso B 16 (17 por ciento), vellosos C 12 (13 por ciento) y vellosos D 8 (9 por ciento); 5 (5 por ciento) hiperplásicos, 1 (1 por ciento) hamartoma y 1 (1 por ciento) inflamatorio. Del total de los adenomas, tenían focos de adenocarinoma 10 (11 por ciento), displasia leve 28 (30 por ciento), moderada 42 (45 por ciento) y DAG 20 (14 por ciento). El 20 por ciento de los adenomas vellosos C Y D tenían CA contra el 3.6 por ciento de los vellosos A (p:adenomas vellosos C y D tenían DAG contra el 10.7 por ciento de los vellosos A (p:pólipos con DAG fue 1.78 +/- 0.6 cm y el los sin DAG, 1.28 +/- 0.7 cm (NS). No se observaron complicaciones de la polipectomía. Concluimos que los pólipos predominaron en el sexo masculino con una relación 2 a 1 y que los pólipos se localizaban en rectosigma en los pacientes que consultaron por hematoquezia. La displasia de alto grado y el cáncer se asociaron significativamente al porcentaje de componente velloso del pólipo, pero no a su tamaño ni a la edad y sexo de los pacientes.