Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis.

BACKGROUND AND OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed hereditary condition that promotes the development of lung and liver diseases, and the most common potentially life-threatening genetic condition in Caucasian adults. In this study, the clinical and genetic profile of pulmonary patients from a single center in La Palma Island (Canary Islands, Spain) was assessed to predict how to increase AATD diagnosis. METHODS: AATD was tested in 1,493 pulmonary outpatients without regard to respiratory symptoms and 465 newborns. Variants of the SERPINA1 gene were characterised by real-time PCR, DNA sequencing, molecular haplotyping and phenotyping (AAT isoelectric focusing). Different respiratory pathologies were diagnosed in patients and their levels of serum AAT were measured by nephelometry. RESULTS: The prevalence of pneumological patients with AATD alleles was 30.5%, including PI*S, PI*Z and 6 rare genetic variants. Certain deficiency genotypes were unevenly distributed among patients diagnosed with respiratory diseases: PI*ZZ (71.4%) and PI*SS (34.8%) genotypes were more represented in patients with chronic obstructive pulmonary disease (COPD), whereas PI*MZ (27.7%) and PI*SZ (34.5%) genotypes were more abundant in patients with bronchial asthma. The estimated frequency of PI*S and PI*Z alleles in the general population was 8.2% and 2.1%, respectively. A very significant enrichment (p< 0.01) of PI*S allele, independent of the PI*Z allele, was detected in the clinical population. CONCLUSIONS: AATD diagnosis would improve if both the COPD and the asthmatic patients were included to screening programs. The prevalence of PI*ZZ genotype in La Palma (1/2,162) was relatively high within Spain (average 1/3,344).

Prognostic value of lung ultrasound and its link with inflammatory biomarkers in patients with SARS-CoV-2 infection.

BACKGROUND: Lung ultrasound (LUS) has shown to correlate well with the findings obtained by chest computed tomography (CT) in acute-phase COVID-19. Although there is a significant correlation between blood biomarkers and CT radiological findings, a potential correlation between biochemical parameters and LUS images is still unknown. Our purpose was to evaluate whether mortality can be predicted from either of two lung ultrasound scoring systems (LUSS) as well as the potential association between lung lesions visualised by LUS and blood biomarkers. METHODS: We performed a retrospective observational study on 45 patients aged>70 years with SARS-CoV-2 infection who required hospitalisation. LUS was carried out at admission and on day 7, when the clinical course was favourable or earlier in case of worsening. Disease severity was scored by means of LUSS in 8 (LUSS8) and in 12 (LUSS12) quadrants. LUS and blood draw for inflammatory marker analysis were performed at the same time. RESULTS: LUSS8 vs LUSS12 predicted mortality in 93.3% vs 91.1% of the cases; their associated odds ratios (OR) were 1.67 (95% CI 1.20-2.31) and 1.57 (95% CI 1.10-2.23), respectively. The association between biochemical parameters and LUSS scores was significant for ferritin; the OR for LUSS12 was 1.005 (95% CI 1.001-1.009) and for LUSS8 1.005 (95% CI 1.0-1.1), using thresholds for both of them. CONCLUSIONS: The prognostic capacity of LUSS12 does not surpass that of LUSS8. There is a correlation between ferritin levels and LUSS.

[Psychopathological disorders and quality of life in patients with brain infarction]. / Trastornos psicopatológicos y calidad de vida en el infarto cerebral.

OBJECTIVES: To study the influence of various factors on the health related quality of life (HRQOL) of patients who have suffered a brain infarction (BI), with special attention to psychopathological disorders (PD). PATIENTS AND METHODS: Prospective observational study on 45 patients admitted due to a BI, evaluated at 4, 12 and 26 weeks of the acute event. Social and demographic data, and medical history were collected; the SF-36 scale was used for the assessment of HRQOL, and the Neuropsychiatric Inventory (NPI), MMSE, Canadian Neurological Scale, Modified Rankin Scale and other instruments for assessing psychopathological, cognitive, neurological and functional status. A linear regression analysis was performed to identify potential predictors of the SF-36 scores at 26 weeks, introducing, as independent variables, medical and psychiatric history, demographic characteristics and the functional, neuropsychological and psychopathological assessments at 4 weeks. RESULTS: Valid predictive models for all the SF-36 domains were obtained, in which a history of pre-morbid depression, higher scores in the NPI and Rankin Scale, and lowest in the Canadian Neurological Scale were the main predictors of a worse HRQOL in the long term. Psychopathology related caregiver's distress (assessed with the NPI) was associated with a lower score in the social function index. CONCLUSIONS: PDs and functional status were the main determinants of HRQOL in patients with BI.

[The Langerhans cell histiocytosis with thymic localization as initial and exclusive place]. / Histiocitosis de células de Langerhans con afectación tímica como manifestación única de la enfermedad.

The Langerhans' cell histiocytosis (LCH), also known as Histiocitosis X it is an illness not very frequent granulomatosus etiology not clarified yet, that it can have different manifestations and localizations, however the thymic localization as initial and exclusive place gives presentation HCL it is quite unusual. The present case is presented a patient that debuted with a clinical unspecific, where the tests give image they put she gives apparent a mass in previous mediastinum and that after the pathologic and immunohistochemical analysis they evidenced a proliferation Langerhans s cells and eosinophils it being positive for CD1a and S-100 confirming the diagnosis of the LCH.