1,721,106 research outputs found
Update on α1-antitrypsin deficiency
No full textα1-Antitrypsin deficiency (AATD) is an inherited metabolic disorder in which mutations in the coding sequence of the SERPINA1 gene prevent secretion of α1-antitrypsin (α1-AT) and cause predisposition to pulmonary and liver diseases. The heterogeneity of clinical manifestations in AATD is related to the complexity of biological function of α1-AT. The role of smoking is crucial in the natural history of lung damage progression in severe AATD individuals, even if it also partly explains the heterogeneity in lung disease. Lung damage progression in AATD can also be related to body mass index, exacerbation rate, sex, environmental exposure and specific mutations of SERPINA1. Recent randomised controlled trials, together with previous observational work, have provided compelling evidence for the importance of early detection and intervention in order to enable patients to receive appropriate treatment and preserve functional lung tissue
Letter: potential selection bias in real‐world comparison of ustekinumab versus vedolizumab as a second‐line treatment for Crohn’s disease—authors’ reply
No full textSonographic detection of massive colonic pseudopolyposis in inflammatory bowel diseases
No full textPurpose: Colonic pseudopolyps are a frequent finding in inflammatory bowel disease (IBD). Yet there are no published data describing the characteristics of pseudopolyposis in intestinal ultrasound (IUS). This study aimed at identifying the key features of pseudopolyposis in IUS. Methods: This case-control study included 12 patients with ulcerative colitis or Crohn's colitis with extensive left colon pseudopolyposis and 18 matched IBD patients without pseudopolyps at colonoscopy. Luminal (diameters, thickening, stratification, margins, and vascularity) and intraluminal (vascular signals at color Doppler), and extraluminal (mesenteric fat) parameters of the left colon were compared. Anonymized still images and videos of these patients were blindly reviewed to estimate the accuracy in detecting this condition. Results: Among the IUS parameters assessed, the anteroposterior diameter ≥ 12 mm and the presence of luminal vascular signals were significantly correlated with pseudopolyposis. The detection of both these findings were able to detect extensive pseudopolyposis a sensitivity of 75% (CI 95%: 42.8-94.5%) and a specificity of 100% (CI 95%: 81.5-100%). Conclusion: This is the first study describing the IUS features of pseudopolyposis in IBD. The potential use of IUS to assess pseudopolyposis might have an impact on IUS monitoring and surveillance of IBD patients with condition
The Italian register for diffuse infiltrative lung disorders (RIPID): a four-year report
No full textINTRODUCTION: RIPID (Italian register for diffuse infiltrative lung disorders) is a register aimed to create a national database of diffuse infiltrative lung disorders, also known as interstitial lung diseases.MATERIAL AND METHODS: The RIPID register collected prevalent data on patients affected by infiltrative diffuse lung disorders. The data form contains socio-demographic information (sex, age, years of education), existence in life, smoking habits, clinical data, diagnostic procedures (chest high resolution computed tomography (HRCT), bronchoalveolar lavage (BAL), transbronchial biopsies (TBB), surgical biopsies) and respiratory function tests at the time of diagnosis.RESULTS: Up to 18/01/2005 a total of 3152 patients had been included in the register. Seventy-nine centers and 138 physicians in all 20 regions of Italy contributed to patient enrolment. The vast majority of cases were from Northern Italy (2343 cases, 75%). The most frequently reported diagnoses were Sarcoidosis (1063 patients) and Idiopathic Pulmonary Fibrosis (IPF, 864 patients).DISCUSSION: The data in the RIPID confirm that epidemiological registries can be useful tools to investigate rare or relatively rare disorders (e.g. Sarcoidosis and IPF), in order to design multicentric clinical studies of adequate sample size, aimed at providing standardized diagnostic, management and follow up criteria with a particular regard to outcome
Cardiac adaptation to severe congenital diaphragmatic hernia
No full textABSTRACT
Objective Prenatal heart adaptations to congenital diaphragmatic hernia (CDH) could help define postnatal outcome. Methods We retrospectively
analyzed post-mortem tissues from fetuses with severe CDH (n = 7). Histology and immunohistochemical distribution of desmin, muscle actin [HHF35], endothelin-1 [ET-1] and TGF-β were evaluated. Results In the atrium, desmin, HHF35, ET-1, TGF-β were found expressed only in preterm CDH. Dishomogeneous ventricular distribution of cardiac growth factors were detected in term CDH. The cardiomyocyte nucleus/cytoplasmatic ratio in CDH was higher compared with controls (p = 0.01). Small intramyocardial artery density and vascular wall thickness was increased in CDH compared with controls (p = 0.03 and p < 0.01). In comparison with the ventricles, the interventricular septum showed a greater vessel density (p = 0.01) and a greater vascular wall thickness, particularly compared with the CDH right ventricle (p =
0.02). Conclusion Left ventricle immaturity seems to be a cardiac adaptive response of severe CDH in utero
Immunogenicity of hepatitis A-inactivated vaccine administered to seronegative infants, and serological follow-up 12 months after second dose.
No full textAIM:
To evaluate a) the safety and immunogenicity of anti-HAV-inactivated vaccine administered during the first year of life to anti-HAV seronegative babies, and b) the antibody persistence in a low/intermediate endemic area.
METHODS:
After having obtained informed written consent from mothers, 92 babies were vaccinated at 4 and 10 mo of age. All babies were seronegative at birth and did not present HAV-RNA shedding in three serial stool samples taken at 1, 2 and 3 mo of age.
RESULTS:
No general side effects (fever > 38 degrees C) were observed. After the first dose of vaccine, 70/82 (85.4%) babies developed anti-HAV > 10 mIU/ml and 36/82 (43.9%) > 20 mIU/ml. After the second dose of vaccine, all babies developed a titre > 20 mIU/ml, and GMT was 877 mIU/ml. After 1 y of follow-up, the decreasing rate was similar to that reported for adult populations. Furthermore, three babies doubled the titre observed 1 mo after the second dose, indicating the possible spread of HAV even in a low/intermediate endemic area.
CONCLUSION:
Anti-HAV vaccine is safe, immunogenic and able to induce immune memory, and can be integrated into the routine infant immunization schedule during the first year of life
Daptomycin Exposure Prediction With a Limited Sampling Strategy
No full textBackground:Daptomycin is a cyclic lipopeptide antibiotic used to treat serious infectious endocarditis caused by Staphylococcus aureus. The pharmacodynamic parameter correlating best with efficacy is the ratio of the estimated area under the concentration (AUC0-24)-time curve to the minimum inhibitory concentration. The aim of the study is to develop a limited sampling strategy to estimate AUC0-24 using a reduced number of samples.Methods:Sixty-eight daptomycin AUC0-24 values were calculated for 50 White patients who underwent treatment for at least 5 consecutive days. Plasma concentrations were detected using a validated high-performance liquid chromatography-tandem mass spectrometry analytical method, with daptomycin-d5 as an internal standard. Multiple regression was used to evaluate the ability of 2 concentration-time points to predict the AUC0-24 calculated from the entire pharmacokinetic profile. Prediction bias was calculated as the mean prediction error, whereas prediction precision was estimated as the mean absolute prediction error. The development and validation datasets comprised 40 and 10 randomly selected patients, respectively.Results:The AUC0-24 (mg∗h/L) was best estimated using the daptomycin trough concentration and plasma concentrations detected 2 hours after dosing. We calculated a mean prediction error of 1.6 (95% confidence interval, -10.7 to 10.9) and a mean absolute prediction error of 11.8 (95% confidence interval, 5.3-18.3), with 73% of prediction errors within ±15%.Conclusions:An equation was developed to estimate daptomycin exposure (AUC0-24), offering clinical applicability and utility in generating personalized dosing regimens, especially for individuals at high risk of treatment failure or delayed response
Sézary Syndrome: a clinico-pathological study of 9 cases and review of the literature
No full textBACKGROUND: Sezary Syndrome (SS) is a rare and aggressive variant of cutaneous T-cell lymphoma characterized by erythroderma, generalized lymphadenopathy and atypical lymphocytes in peripheral blood. The aim of the study is to describe our experience with SS patients.METHODS: 9 SS patients were retrospectively identified within 288 patients with cutaneous Tcell lymphomas (CTCLs) followed from 1977 to 2017 in the Unit of Dermatology, IRCCS Policlinico San Matteo Foundation, Pavia.RESULTS: 9 SS patients were described: 5 males and 4 females, mean age at diagnosis 66.1 years (49-87 ys), overall survival (OS) after SS diagnosis was 2.6 years (31.5 ms). All the patients showed erythroderma, pruritus and lymphadenopathy. Palmo-plantar hyperkeratosis, nail lesions, alopecia and ectropion were also present. One patient was excluded for significative differences in management. Three lines treatment -extracorporeal photopheresis plus immunomodulator/s plus photo-photochemotherapy- was the most used first-line option for induction of remission, reached in 4 patients out of 8: 3 with Complete Remission (CR), 1 with Partial Remission (PR). Prognostic variables were investigated by univariate analysis: hypereosinophilia, highly elevated beta2muglobulin >3500 mug/l, male sex and highly elevated LDH >450 U/l resulted with statistical power.CONCLUSIONS: The improved comprehension of SS pathogenesis is progressively increasing the -still poor- survival: 38.5 months (3.2 years) considering only the 6 patients followed in the last five years, versus overall 31.5 months (2.6 years). The correct identification of SS patients remains determinant for the proper overall management. Among unfavorable prognostic markers, levels of beta2muglobulin allow stratification of patients
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