Williams-Beuren syndrome--a rare cause of recurrent hemoptysis.

Williams-Beuren syndrome (WBS) is a rare genetic disease with a distinctive constellation of clinical findings. The disease can be diagnosed clinically by a recognizable pattern of malformations, including cardiovascular malformations, a characteristic facial dysmorphism, as well as neurological and cognitive features. We present the case of a 23-years-old woman repeatedly admitted to Pulmonology Clinic for massive hemoptysis. Diagnosis of Williams-Beuren syndrome was revealed by clinical findings and confirmed by CT-angiography data of cardiovascular malformations and fluorescence in situ hybridization (FISH) genetic test. WBS is a multisystem disorder and usually is recognized by clinician. If clinical impression is not clearly consistent with WBS, FISH remains the most widely used test.

A rare genetic cause of bronchiectasis.

Bronchiectasis, defined as an abnormal and irreversible dilatation of the bronchi, frequently associated with inflammation, is the most common complication of recurrent infections. Effective pulmonary immunity is necessary to prevent chronic bronchial damage due to bacterial infection. Primary immune deficiencies comprise a heterogeneous group of genetically determined disorders that affect development and/or the function of innate or adaptive immunity. In multiple series reported in literature, common variable immunodeficiency (CVID), X-linked agammaglobulinemia (XLA) and chronic granulomatous disease (CGD) were the most common forms of primary immune deficiencies (PIDs) associated with bronchiectasis (1,15). Despite advances in the molecular knowledge of PIDs during the past two decades, there are many undiagnosed or late diagnosed patients (6,14). We report a case of Bruton's disease late diagnosed, already with bronchiectasis, with an early onset of recurrent respiratory infections.

Interstitial pneumonitis after treatment for hepatitis C virus infection.

Pulmonary toxicity is a rare side effect of interferon treatment with a wide spectrum of lung tissue conditions, including interstitial pneumonitis, pulmonary sarcoidosis, bronchiolitis obliterans organizing pneumonia, pleural effusion, exacerbation of bronchial asthma, reversible pulmonary hypertension and acute respiratory distress syndrome. We report a case of interstitial pneumonitis in a patient treated with pegylated interferon α2-a and ribavirin for chronic hepatitis C virus infection, genotype 1. The case was marked by progression of the respiratory symptoms even after the withdrawn of the pegylated interferon. One-year treatment with systemic corticosteroid ensured a considerable resorption of CT lesions but only a moderate improvement of symptoms and diffusion capacity without a complete recovery.

[Cryptococcosis--a common fungal infection in immunosuppressed patient]. / Criptococoza--infectie fungica frecventa a imunocompromisululi.

Cryptococcus is a leading mycological cause of morbidity among HIV-infected patients. In many patients, cryptococcosis is the first indication of AIDS. The lung is invariably the portal of entry and initial site of infection for C. neoformans. In immunosuppressed patients all areas of the body can be infected, and central nervous sistem involvement is the most severe complication. Cryptococcosis is an important fungal infection thatshould be considered in the differential diagnosis of the pulmonary infiltrates in the immunosuppressed patient. The purpose of this paper is to review the current knowledge of the management and treatment strategies of cryptococcosis.

Francis Bacon: constructing natural histories of the invisible.

The natural histories contained in Francis Bacon's Historia naturalis et experimentalis seem to differ from the model presented in De augmentis scientiarum and the Descriptio globi intellectualis in that they are focused on the defining properties of matter, its primary schematisms and the spirits. In this respect, they are highly speculative. In this paper I aim to describe the Historia naturalis et experimentalis as a text about matter theory, the histories of which are ascending from what is most evident to the senses to what is least accessible to them. Moreover, the Latin natural histories are parts of a methodological procedure in which the provisional rules and axioms obtained in one history can be used as theoretical assumptions for another history, thereby permitting one to delve ever more profoundly into the structure of nature.

[Efficiency of prognostic scores for the assessment of patients with severe influenza pneumonias]. / Eficienta scorurilor prognostice în evaluarea pneumoniilor gripale severe.

AIM: To compare the efficiency of some prognostic scores in patients with severe influenza pneumonias. MATERIALS AND METHODS: The study was performed on a cohort of 75 cases of 2009 AH1N1 influenza associated pneumonias. Clinical and laboratory features at admission were used to calculate retrospectively the following prognostic scores: SCAP (Severe Community Acquired Pneumonia), CAP-PIRO (Community Acquired Pneumonia--Predisposition Infection Reaction, Organ failure), SMRT-CO (Systolic blood pressure, Multilobar infiltrates, Respiration rate, Tachycardia, Confusion, Oxygen), IDSA/ATS (Infectious Diseases Society of America/American Thoracic Society). The scores were used to assess two different outcomes--death and need for invasive mechanical ventilation (IMV). The performance of the prognostic tools were assessed using the area under receiver operating characteristic (AUC), and the sensitivity and specificity for identifying high risk patients for severe course of pneumonia. RESULTS: IMV was applied in 29 (38.7%) of studied cases, in 15 (20%) the diseases had a fatal outcome. Despite the fact that all scores had a very good discriminatory power in predicting both outcomes (AUC > 0,8), some of them have a very low sensitivity, in classes corresponding to sever pneumonias, in predicting mortality (IDSA/ATS-0%; 95% CI, 0-21.8%), as well as the need for IMV (IDSA/ATS-0%; 95% CI, 0-11.9%); SCAP-58.6% (95% CI, 38.9-76.5%); CAP-PIRO-58,6% (95% CI, 38.9-76.5%). CONCLUSIONS: The CAP-PIRO and SMRT-CO scores were found to have the best performances to predict death from influenza associated severe pneumonias and the last, also in predicting the need for IVM. Other analyzed scores underestimate the risk of occurrence of both assessed outcomes.