Distrofia facioescapulohumeral de presentación temprana en dos hermanas / Early onset facioscapulohumeral dystrophy in two sisters

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Cordón indurado en la pared torácica anterior / Indurated cord in the anterior thoracic wall

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Aplasia pulmonar: un hallazgo infrecuente en adultos / Pulmonary hypoplasia: an infrecuent disease in adults

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[Primary antiphospholipid syndrome: characteristics and course of a series of 17 cases]. / Síndrome antifosfolipídico primario: características y evolución de una serie de 17 casos.

BACKGROUND: Primary antiphospholipid syndrome (APS) is a thrombophilic disorder which is not associated with connective tissue diseases or with other diseases. METHOD: Retrospective review of patients diagnosed of primary APS in an Internal Medicine service between January 1996 and December 2000. RESULTS: We identified 17 patients with primary APS. The most common presenting manifestations were deep vein thrombosis (7 cases) and ischemic stroke (3 cases). Eleven patients (65%) had vein thrombosis, 4 (24%) arterial thrombosis and no patient had both types of thrombosis. The 15 patients with thrombosis received treatment with indefinite oral anticoagulation (INR between 2.5 and 3.5). There was no recurrence of thrombosis or major hemorrhagic complications after a median follow-up time of 36 months (range 10-52 months). CONCLUSIONS: The most common presenting manifestation of primary APS is deep vein thrombosis. Venous thrombosis is more frequent than arterial thrombosis. The occurrence of both types of thrombosis seems to be exceptional. Long-term oral anticoagulation is an effective and safe treatment to prevent the recurrence of thrombosis in patients with primary APS.

Hipertensión arterial con alta variabilidad / Arterial hypertension with high variation

La hipertensión arterial esencial es la entidad que el clínico trata con más frecuencia en la práctica diaria.Los pacientes con gran variabilidad de la presión arterial (PA) representan un problema terapéutico y, con mayor frecuencia aún, un enigma diagnóstico. Se presenta un caso de enferma con crisis hipertensivas severas seguidas de baches hipotensivos en la cual, tras comprobarse la elevada variabilidad de su PA mediante medición ambulatoria de la presión arterial, se descubrió en el estudio posterior la existencia de una trombosis del seno transverso (AU)

[Antineutrophil cytoplasmic antibodies (ANCA): clinico-pathologic correlations iin a series of 82 cases]. / Anticuerpos frente al citoplasma de los neutrófilos (ANCA): correlaciones clínico-patológicas de una serie de 82 casos.

OBJECTIVE: Antineutrophil cytoplasmic antibodies (ANCA) have been described in a great variety of diseases in addition to the ANCA-associated systemic vasculitis (Wegener's granulomatosis (WG), microscopic polyangiitis (MPA) and Churg-Strauss syndrome (CSS)) and the pauci-immune rapidly progressive glomerulonephritis (RPGN). The objective of this work is to describe the clinical-pathological diagnosis of a series of patients with ANCA. MATERIAL AND METHODS: Retrospective review of patients with positive ANCA by indirect immunofluorescence in our hospital between January 1997 and December 1998. RESULTS: We identify 82 patients with ANCA. Six cases (7.3%) showed a C-ANCA pattern, 19 (23.2%) a P-ANCA pattern and 57 (69.5%) an atypical pattern. Eight patients (9.7%) had an ANCA-associated systemic vasculitis (5 WG, 2 MPA and 1 SCS). Four patients (4.9%) had a pauci-immune RPGN without systemic vasculitis. One only case (1.2%) in our series presented a C-ANCA pattern without evidence of an ANCA-associated systemic vasculitis or a pauci-immune RPGN. CONCLUSIONS: The atypical pattern is the most frequent in patients with ANCA. A minority of patients with ANCA have an ANCA-associated systemic vasculitis (WG, MPA or SCS) or a pauci-immune RPGN. The occurrence of a C-ANCA pattern is exceptional in patients without an ANCA-associated systemic vasculitis or a pauci-immune RPGN.

[The current clinical spectrum of pulmonary thromboembolism]. / El espectro clínico actual del tromboembolismo pulmonar.

BACKGROUND. Mortality in pulmonary thromboembolism (PTE) decreases considerable when it is diagnosed early. The suspicion based on clinical and complementary data is essential for an early diagnosis. METHODS. Retrospective review of the clinical features in patients diagnosed of PTE in an Internal Medicine department from January 1993 to December 1999. RESULTS. A total of 117 patients with PTE were identified. The median age was 68.8 years. Sixty-six patients (56.4%) had one or more risk factors for PTE. The most common risk factor was immobilization (37.6%). Dyspnea was the most common symptom (74.4%) and tachypnea the most common sign (66.7%). Fever/low grade fever and leukocytosis were present in 16.2% and 31.6% of patients, respectively. Respiratory failure, alkalosis and hypocapnia were present in 44.4%, 38.5% and 47% of patients, respectively. An alveolar-arterial oxygen gradient > 20 mmHg was demonstrated in 96.6% of patients. Chest radiographs and electrocardiograms were normal in 52.1% and 23.9% of patients, respectively. A vein echo-duplex of the lower limbs demonstrated deep vein thrombosis (DVT) in 52.1% of patients. The hospital mortality rate was 6.8%. CONCLUSIONS. PTE still affects older patients mainly and frequently known risk factors are not detected. The presence of fever/low grade fever and/or leukocytosis does not rule out PTE. Both chest radiographs and electrocardiograms may be normal. Not demonstrating DVT in the lower limbs by the vein echo-duplex does not rule out PTE. The hospital mortality rate has not decreased considerably in the last few years.

El espectro clínico actual del tromboembolismo pulmonar / The current clinical spectrum of pulmonary thromboembolism

Fundamento. La mortalidad del tromboembolismo pulmonar (TEP) disminuye de manera considerable cuando es diagnosticado precozmente. La sospecha basada en los datos clínicos y complementarios es fundamental en el diagnóstico precoz. Métodos. Revisión retrospectiva de las características de los pacientes diagnosticados de TEP en un servicio de Medicina Interna entre enero de 1993 y diciembre de 1999. Resultados. Identificamos 117 pacientes con TEP. La edad media fue 6 8 ,8 años. Sesenta y seis pacientes (5 6 ,4 %) tuvieron uno o varios factores de riesgo conocidos para TEP. El factor de riesgo más frecuente fue la inmovilización (3 7 ,6 %). La disnea (7 4 ,4 %) y la taquipnea (6 6 ,7 %) fueron, respectivamente, el síntoma y el signo más frecuente. Un 16,2% y un 31,6% de los casos presentó fiebre/ febrícula y leucocitosis. Un 44,4%, un 38,5% y un 47% de los pacientes presentaron insuficiencia respiratoria, alcalosis e hipocapnia, respectivamente. Un 9 6 ,6 % tuvo un gradiente alvéolo-arterial de oxígeno > 2 0 mmHg. La radiografía de tórax y el electrocardiograma fueron normales en el 52,1% y en el 23,9% de los casos, respectivamente. El eco-dúplex venoso de miembros inferiores demostró una trombosis venosa profunda (TVP) en el 5 2 ,5 % de los casos. La mortalidad intrahospitalaria fue del 6 ,8 %. Conclusiones. El TEP sigue afectando preferentemente a personas mayores, y con frecuencia no existe un factor de riesgo conocido. La presencia de fiebre/ febrícula y/ o leucocitosis no excluye un TEP. Un gradiente alvéolo-arterial de oxígeno normal es excepcional en el TEP. La radiografía de tórax y el electrocardiograma pueden ser normales. La no demostración de una TVP en miembros inferiores mediante eco-dúplex venoso no permite excluir un TEP. La mortalidad intrahospitalaria del TEP no ha disminuido considerablemente en los últimos años (AU)

Background. Mortality in pulmonary thromboembolism (PTE) decreases considerable when it is diagnosed early. The suspicion based on clinical and complementary data is essential for an early diagnosis. Methods. Retrospective review of the clinical features in patients diagnosed of PTE in an Internal Medicine department from January 1993 to December 1999. Results. A total of 117 patients with PTE were identified. The median age was 6 8 .8 years. Sixty- six patients (5 6 .4 %) had one or more risk factors for PTE. The most common risk factor was immobilization (37.6%). Dyspnea was the most common symptom (7 4 .4 %) and tachypnea the most common sign (6 6 .7 %). Fever/ low grade fever and leukocytosis were present in 1 6 .2 % and 3 1 .6 % of patients, respectively. Respiratory failure, alkalosis and hypocapnia were present in 4 4 .4 %, 3 8 .5 % and 4 7 % of patients, respectively. An alveolar-arterial oxygen gradient > 2 0 mmHg was demonstrated in 9 6 .6 % of patients. Chest radiographs and electrocardiograms were normal in 5 2 .1 % and 2 3 .9 % of patients, respectively. A vein echo-duplex of the lower limbs demonstrated deep vein thrombosis (DVT) in 5 2 .1 % of patients. The hospital mortality rate was 6 .8 %. Conclusions. PTE still affects older patients mainly and frequently known risk factors are not detected. The presence of fever/ low grade fever and/ or leukocytosis does not rule out PTE. Both chest radiographs and electrocardiograms may be normal. Not demonstrating DVT in the lower limbs by the vein echo-duplex does not rule out PTE. The hospital mortality rate has not decreased considerably in the last few years (AU)

Síndrome del embolismo graso: presentación de un caso y revisión de la literatura / Fat embolism syndrome: report of a case and literature review

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[Differences between tuberculous spondylitis and brucellar spondylitis]. / Diferencias entre la espondilitis tuberculosa y la espondilitis brucelar.

OBJECTIVE: To identify potential differences in the clinical and laboratory characteristics between tuberculous spondylitis (TS) and brucellar spondylitis (BS). PATIENTS AND METHODS: Retrospective study of patients with TS and BS diagnosed in our hospital between january 1992 and december 1998. RESULTS: TS was diagnosed in 17 patients and BS in 10 patients. In our series, a higher delay in the diagnosis (27.9 +/- 24.6 vs. 16 +/- 5.6 weeks, p = 0.02) was found in TS. There was a higher frequency, but without stadistic significance, of immunosuppression, one or several paravertebral or epidural abscesses, spinal cord compression, anemia and an elevated erythrocyte sedimentation rate in TS, and a higher frequency of fever/febricule and residual vertebral pain in BS. Lumbar location was the most frequent in both groups (58.8% in TS and 70% in BS). CONCLUSIONS: It is possible that there were some differences in the clinical and laboratory characteristics between TS and BS which may be an aid in the differential diagnosis of both entities and orient the empirical treatment in these cases without a definitive microbiological diagnosis or while awaiting the diagnostic confirmation.

Diferencias entre la espondilitis tuberculosa y la espondilitis brucelar / Differences between tuberculous spondylitis and brucellar spondylitis

Objetivo: Identificar posibles diferencias en las características clínicas y analíticas entre la espondilits tuberculosa (ET) y la espondilitis brucelar (EB). Pacientes y métodos: Estudio retrospectivo de los pacientes diagnosticados de ET y EB en nuestro hospital entre enero de 1992 y diciembre de 1998. Resultados: Diecisiete pacientes fueron diagnosticados de ET y 10 de EB. La ET se caracterizó en nuestra serie por un mayor tiempo de evolución de la clínica hasta el momento del diagnóstico (27,9 ± 24,6 vs.16 ± 5,6 semanas, p= 0,02). Encontramos una mayor frecuencia, pero sin alcanzar la significación estadística, de inmunosupresión, de uno o varios abscesos paravertebrales y/o epidurales, de compresión medular, de anemia y de velocidad de sedimentación globular elevada en la ET, y una mayor frecuencia de fiebre/febrícula y de dolor vertebral residual en la EB. La localización lumbar fue la más frecuente en ambos grupos (58,8 por ciento en la ET y 70 por ciento en la EB). Conclusiones: Es posible que existan algunas diferencias en las características clínicas y analíticas de la ET y de la EB que puedan ser de ayuda en el diagnóstico diferencial de ambas entidades y orientar el tratamiento empírico en los casos sin un diagnóstico definitivo microbiológico o a la espera de la confirmación diagnóstica (AU)

[Giant-cell arteritis: a descriptive study in southwestern Spain]. / Arteritis de células gigantes: un estudio descriptivo en el suroeste de España.

OBJECTIVE: To study the clinical and laboratory features of a series of patients with giant cell arteritis (GCA) or temporal arteritis in south-western Spain (Extremadura). PATIENTS AND METHODS: Retrospective study of 25 patients with GCA diagnosed by temporal artery biopsy between 1990 and 1998. RESULTS: Nine patients were males and 16 (64%) females. Sixteen cases (64%) presented polymyalgia rheumatica (PMR). Other clinical findings were: fever/febricula (64%), constitutional syndrome (64%), new headache (96%), visual symptoms (48%), jaw claudication (17%) and abnormal temporal arteries (17%). All patients had an ESR of more than 50 mm/hour and a raised C-reactive protein. Thirteen patients (52%) had anemia (hemoglobin level < 12 g/dl). Eleven cases (44%) presented a platelet count higher than 400,000/mm3. Four patients (16%) had an elevated AST and/or ALT levels and 8 patients (32%) had an elevated GGT and/or alkaline phosphatase levels. In patients with PMR, there was a higher frequency of constitutional syndrome (81 vs 33%, p = 0.02). In females, there was a higher frequency of anemia (75 vs 11%, p < 0.01), platelet count higher than 400,000/mm3 (75 vs 0%, p < 0.01) and elevated AST and/or ALT (25 vs 0%, p < 0.01) and elevated GGT and/or alkaline phosphatase (50 vs 0%, p < 0.01) levels. CONCLUSIONS: The clinical and laboratory features of GCA in our series of patients in south-western Spain are similar to that described in other spanish populations, with the exception of a slightly higher frequency of PMR and a lower frequency of jaw claudication and abnormal temporal arteries. In our study, the clinical picture of GCA was more severe in patients with PMR and in females.