Congenital stromal corneal dystrophy in a Spanish family: Clinical, genetic and histological analysis.

PURPOSE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date. METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed. RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene. CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.

Rapid molecular detection of pulmonary tuberculosis in HIV-infected patients in Santiago, Chile.

SETTING: Santiago, Chile, has a mean annual tuberculosis (TB) rate of 13 per 100 000 population; however, TB incidence in human immunodeficiency virus (HIV) infected individuals is at least 20 times higher. OBJECTIVE: To assess the accuracy of rapid molecular testing for pulmonary TB (PTB) detection in routine care in HIV-infected patients. DESIGN: Cross-sectional study, conducted prospectively in five hospitals between March 2010 and June 2011. HIV-positive subjects with suspected PTB provided sputum or mouth wash samples that were directly processed for acid-fast smear, mycobacterial cultures and Xpert® MTB/RIF. Positive test results were reported on the same day. RESULTS: We enrolled 166 subjects into the study; 50.6% provided two sputum samples, 33.1% only one sputum sample and 16.3% a mouth wash sample. The prevalence of TB was 8.1% (13/160). Diagnostic sensitivity increased from 66.7% (95%CI 39.1-86.2) for acid-fast smear to 91.7% (95%CI 64.6-98.5) for Xpert MTB/RIF, with comparable specificity at 98.6% (146/148, 95%CI 95.2-99.6) and 99.3% (147/148, 95%CI 96.3-99.9). Xpert MTB/RIF allowed early detection of rifampicin resistance in 16.6% of cases, with rapid adjustment to multidrug-resistant treatment. CONCLUSION: Xpert MTB/RIF provided earlier TB diagnosis in 25% more cases than acid-fast smear alone. Its implementation should be considered for TB diagnosis in HIV-positive patients even outside TB-endemic areas.

Contrast-enhanced 3.0-T breast MRI for characterization of breast lesions: increased specificity by using vascular maps.

PURPOSE: To assess the diagnostic accuracy of contrast-enhanced 3.0-T breast magnetic resonance imaging (MRI) for differentiating benign from malignant breast masses and subsequently to test if specificity could be further improved by scoring of the overall ipsilateral breast vascularity. MATERIALS AND METHODS: Fifty-four patients were prospectively enrolled in the study and underwent contrast-enhanced 3.0-T breast MRI. MR images were evaluated and classified according to the MRI BI-RADS lexicon criteria. Lesion size, number of lesions, and localization in the breast were systematically assessed. Maximum intensity projections (MIPS) were obtained by using high-resolution contrast-enhanced (0.1 mmol/kg gadobutrol) fat-saturated T1-weighted images. Breast vascularization was scored according to the methods from Sardanelli et al. by measuring the number, diameter, and length of the vessels on the MIPS. The score ranged from 0 (indicating absent or low breast vascularity) to 3 (indicating high breast vascularity). RESULTS: Final analysis of 56 lesions revealed 25 (45%) malignant lesions and 31 (55%) benign lesions. Correlation with the MRI BI-RADS classification revealed cancer in none (0%) of the BI-RADS II lesions, in 1 (12%) of the BI-RADS III lesions, in 5 (83%) of the BI-RADS IV lesions, and in 19 (100%) of the BI-RADS V lesions. Based on morphologic and kinetic data analysis, the sensitivity and specificity of 3.0-T breast MRI was 100% (25/25) and 74% (23/31), respectively. After adjustment for the breast vascularity score, specificity significantly (p = 0.048) increased to 87% (27/31) without affecting sensitivity. CONCLUSION: Diagnostic accuracy of contrast-enhanced 3.0-T breast MRI increased significantly when the vascularity score was added to the standard morphologic and kinetic data analysis, resulting in a specificity of 87% without affecting sensitivity, which remained 100%.

[Acute renal failure due to sulfadiazine crystalluria]. / Insuficiencia renal aguda por depósito de cristales de Sulfadiacina.

Focal necrotizing encephalitis due to Toxoplasma gondii infection represents one of the most common opportunistic infection in patients with the acquired inmunodeficiency syndrome (AIDS), and the treatment is commonly with a combination sulphadiazine, and pyrimethamine. A major side effect of sulfadiazine therapy is the occurrence of crystallization in the urinary collecting system. We report a patient with AIDS and Toxoplasmic encephalitis treated with sulfadiazine who developed acute renal failure. Renal ultrasound demonstrated echogenic areas within the renal parenchyma, presumed to be sulfa crystals. Renal failure and ultrasound findings resolved rapidly with hydratation and administration of alkali. Patients infected with AIDS frequently have characteristic that increase intratubular crystal precipitation and they require treatment with one or more of the drugs that are associated with crystal-induced renal failure. Controlled alkalinization of the urine and high fluid intake are recommended for prophylaxis of crystalluria. The literature concerning crystalluria and renal failure due to sulfadiazine is reviewed.

Targeting difficult accessible breast lesions: MRI-guided needle localization using a freehand technique in a 3.0 T closed bore magnet.

PURPOSE: To report the accuracy of magnetic resonance imaging (MRI)-guided needle localization for diagnosis of MRI detected suspicious breast lesions located in difficult accessible regions of the breast, using the freehand method in a 3.0 T closed bore magnet. MATERIALS AND METHODS: In five patients with five MRI-only breast lesions underwent MRI-guided needle localization for histopathologic evaluation of the lesions. All interventional procedures were performed in a 3.0 T MRI system with the patient in prone position and by using a dedicated phased array breast coil. MRI-guided needle localizations were performed by using a freehand technique. In our study, the high-resolution scan allowed preprocedural localization of all lesions without use of contrast enhancement. In all cases contrast-enhanced MRI was performed after insertion of the wire to confirm the tip of the wire in direct contact with the enhancing lesion. RESULTS: Needle localizations were performed in five patients. Histopathologic evaluation of tissue after surgery excision biopsy revealed one lymph node, three invasive ductal carcinoma and one ductal carcinoma in situ. Lesion size varied from 6 to 30 mm. Mean duration time was 25 min. No complications occurred during the intervention method. In the patient with the benign lesion control MRI of the breast after 6 months confirmed lesion removal. CONCLUSIONS: MRI-guided needle localization by using a freehand technique in a 3.0 T closed bore magnet is a safe and accurate method for diagnosis of difficult accessible breast lesions only visible on MRI.

[MRI-guided biopsy of suspicious abnormalities in the breast]. / MRI-geleide biopsie van verdachte afwijkingen in de borst.

In a 55-year-old woman, an echographically occult breast tumour was only visible in one direction on mammography. MRI-guided needle localisation of the lesion followed by surgical excision biopsy were then carried out for diagnostic purposes. In a second woman, 61 years of age, mammographic needle localisation of a deep, echographically occult, lesion was unsuccessful. She then also underwent MRI-guided needle localisation followed by surgical excision biopsy. A third woman, also 61 years of age, with known carcinoma underwent an MRI staging study. This revealed a second, mammographically and echographically occult, lesion for which MRI-guided large-core needle biopsy was done. MRI of the breast has a high sensitivity for the detection of invasive breast carcinoma. MRI of the breast reveals suspicious lesions that cannot be seen on the conventional mammogram or by echography in 15-25% of the cases. In order to obtain tissue from these lesions for histopathology, MRI-guided biopsy techniques have been developed. The most commonly used methods are MRI-guided needle localisation followed by surgical excision biopsy and MRI-guided large-core needle biopsy. The demand for MRI-guided breast interventions is growing because of the increasing use of MRI of the breast in clinical practice.

[Shönlein-Henoch nephritis complicated with pulmonary renal syndrome]. / Síndrome pneumo-renal en paciente con vasculitis de Schönlein-Henoch.

Schönlein-Henoch purpura is a systemic vasculitic disorder involving both arterioles and capillaries. Although it is mainly a disease of early chilhood, it can occur at any age. The disease may be more severe in the few adults who develop this disorder. The clinical manifestations include a classic tetrad: rash, arthralgias, abdominal pain and renal disease. However it may affect almost every other bodily organ such us myocardium, lungs, ureter and nervous system. Pulmonary hemorrhage, a rare complication of Schönlein-Henoch purpura, has been found mainly in adolescents and adults, and it is associated with significant mortality. We present a case of 76-year-old men with Schönlein-Henoch purpura, pulmonary haemorrhage and severe renal involvement. Therapy with intravenous prednisolone resulted in resolution of the pulmonary lesions and renal failure.

[Atheroembolic disease and pulmonary haemorrhage]. / Enfermedad ateroembólica y hemorragia pulmonar.

The cholesterol embolism syndrome is a multisystemic disease resulting from cholesterol crystal emboli deriving from ulcerous atherosclerotic plaques of the aorta or large arteries. Cholesterol crystal embolization can affect multiple organ, including the skin, kidney, brain, eyes, gastrointestinal tract and extremities, and mimic other systemic diseases like vasculitis. Cholesterol crystal embolization of lungs has been described and should be included in the differential diagnostic of pulmonary-renal syndromes. The diagnosis of cholesterol embolism should be considered in elderly patients with pre-existing atherosclerotic disease who develop renal failure and clinical features of peripheral cholesterol crystal embolization in association with precipitating event, without the need for histological demonstration of cholesterol clefts. This syndrome is associated with high morbidity and mortality but recent reports suggest that an aggressive therapeutic management with patient-tailored supportive measures, avoids precipitating factors, and the use of corticosteroids may be associated with a favorable clinical outcome.

Analysis of aplidine (dehydrodidemnin B), a new marine-derived depsipeptide, in rat biological fluids by liquid chromatography-tandem mass spectrometry.

Aplidine (dehydrodidemnin B) is a new marine-derived depsipeptide with a powerful cytotoxic activity, which is under early clinical investigation in Europe and in the US. In order to investigate the pharmacokinetic properties of this novel drug, an HPLC-tandem mass spectrometry method was developed for the determination of aplidine in biological samples. Didemnin B, a hydroxy analogue, was used as internal standard. After protein precipitation with acetonitrile and extraction with chloroform, aplidine was chromatographed with a RP octadecylsilica column using a water-acetonitrile linear gradient in the presence of formic acid at the flow-rate of 500 microliters/min. The method was linear over a 5-100 ng/ml range (LOD = 0.5 ng/ml) in plasma and over a 1.25-125 ng/ml range (LOD = 0.2 ng/ml) in urine with precision and accuracy below 14.0%. The intra- and inter-day precision and accuracy were below 12.5%. The extraction procedure recoveries for aplidine and didemnin B were 69% and 68%, respectively in plasma and 91% and 87%, respectively in urine. Differences in linearity, LOQ, LOD and recoveries between plasma and urine samples seem to be matrix-dependent. The applicability of the method was tested by measuring aplidine in rat plasma and urine after intravenous treatment.

Gamma globulins in the mice vaginal fluids: cyclic and experimental variations.

The study of the gamma globulins in the vaginal fluids reveals that the lowest values were found in mice at estrus and in castrated mice 8 days after the estrogen treatment. We suggest that the variation of gamma globulins in the vaginal fluids is influenced both under physiological and experimental conditions by estrogens.