A survey of newborn screening for cystic fibrosis in Europe.

BACKGROUND: Cystic fibrosis (CF) is a recessively inherited condition caused by mutation of the CFTR gene. Newborn infants with CF have raised levels of immuno-reactive trypsinogen (IRT) in their serum. Measurement of IRT in the first week of life has enabled CF to be incorporated into existing newborn screening (NBS) blood spot protocols. However, IRT is not a specific test for CF and NBS therefore requires a further tier of tests to avoid unnecessary referral for diagnostic testing. Following identification of the CFTR gene, DNA analysis for common CF-associated mutations has been increasingly used as a second tier test. The aim of this study was to survey the current practice of CF NBS programmes in Europe. METHOD: A questionnaire was sent to 26 regional and national CF NBS programmes in Europe. RESULTS: All programmes responded. The programmes varied in number of infants screened and in the protocols employed, ranging from sweat testing all infants with a raised first IRT to protocols with up to four tiers of testing. Three different assays for IRT were used; in the majority (24) this was a commercially available kit (Delfia). A number of programmes employed a second IRT measurement in the 4th week of life (as the IRT is more specific at this point). Nineteen programmes used DNA analysis for common CFTR mutations on samples with a raised first IRT. Three programmes used a second IRT measurement on infants with just one recognised mutation to reduce the number of infants referred for sweat testing. Referral to clinical services was prompt and diagnosis was confirmed by sweat testing, even in infants with two recognised mutations in most programmes. Subsequent clinical pathways were less uniform. Multivariate analysis demonstrated a relationship between the age of diagnosis and the timing of the first IRT. More sweat tests were undertaken if the first IRT was earlier and the diagnosis was later. CONCLUSIONS: Annually these programmes screen approximately 1,600,000 newborns for CF and over 400 affected infants are recognised. The findings of this survey will guide the development of European evidence based guidelines and may help new regions or nations in the development and implementation of NBS for cystic fibrosis.     

Incontinence pad use in patients admitted to medical wards: an Italian multicenter prospective cohort study.

PURPOSE: The purpose of the study was to evaluate the incidence of incontinence pad use among patients admitted to medical wards, the reasons why nurses decide to use an incontinence pad, the extent to which the use of pads is avoidable, and the outcome of inappropriate pad use after discharge from the hospital. METHODS: A prospective cohort study was conducted; patients admitted to medical wards were observed during hospitalization and a 7-day follow-up period after discharge. SUBJECTS AND SETTING: The study was conducted in 2 acute-care units in Northern Italy. All new patients admitted to the units were recruited. RESULTS: At the time of admission to the hospital, in addition to the 120 patients who already used incontinence pads, there was a 34% incidence of new cases (98/286). The most frequent reason why nurses decided to use this aid was incontinence caused by space-time disorientation, followed by limited mobility, incontinence, patient request, nursing shortage, and involuntary urine leakage not perceived by patient. Seventy patients out of 208 used incontinence pads unnecessarily for a total of 544 days. CONCLUSIONS: Decisions about the use of the incontinence pads are not always consistent with research-based or literature-based suggestions. Nurses should develop clinical guidelines or protocols for the appropriate use of incontinence pads.     

Robot-assisted thoracoscopic brachytherapy for lung cancer: comparison of the ZEUS robot, VATS, and manual seed implantation.

OBJECTIVE: Interstitial brachytherapy is becoming an accepted treatment option for lung cancer patients for whom surgery poses a high risk. Robotic surgery has the potential to deliver brachytherapy seeds into tumors while keeping surgeons at a safe distance from the radioactive source. Our aim was to compare the accuracy, number of attempts, and time needed to place seeds next to a target when using a manual technique, video-assisted thoracoscopic surgery (VATS), and the ZEUS robot for minimally invasive surgery (MIS). METHODS: A brachytherapy seed injector was developed and attached to one of the ZEUS robotic arms. Four subjects each inserted inactive dummy brachytherapy seeds into clear agar-gelatin cubes containing a 1.6-mm stainless steel ball target. Two orthogonal radiographs were taken of each agar cube, and the corresponding distances were measured in triplicate using ImageJ processing software. The mean distance between the center of each seed and the corresponding target was calculated using the Pythagorean theorem. Comparisons were made using analysis of variance, t-tests, and Kruskal-Wallis tests, as appropriate. RESULTS: A total of 384 tests (128 for each technique) were performed. The median accuracies for the manual technique, VATS, and ZEUS were 1.8 mm (range: 0.9-6.7 mm), 2.4 mm (range: 1.0-11.3 mm), and 3.6 mm (range: 1.3-16.7 mm), respectively (p < 0.01). The median numbers of attempts for the manual technique, VATS, and ZEUS were 1 (range: 1-5), 4 (range: 1-14), and 3 (range: 1-20), respectively (p < 0.01). The median times for the manual technique, VATS, and ZEUS were 3.0 s (range: 1-43 s), 86.5 s (range: 6-372 s), and 64.5 s (range: 5-356 s), respectively (p < 0.01). CONCLUSIONS: The manual technique is the most accurate, least traumatic, and fastest method of inserting seeds into tumors. The ZEUS robotic platform was able to place seeds beside a target within a clinically acceptable distance, with an acceptable amount of trauma and time required. It achieved results equal to or better than those obtained with VATS.     

Case report: Leishmaniasis of the upper lip.

We report a case of leishmaniasis localized to the upper lip in a 77-year-old Italian man. The disease was characterized by a severe swelling which involved the right side of the upper lip. The swelling was slightly erythematous with crusts and scaling. Consistency was parenchymatous-hard. The lesion was asymptomatic. Histopathologic examination showed an inflammatory infiltrate consisting of lymphocytes, histiocytes, and plasma cells. Several Leishmania spp. amastigotes were observed in the cytoplasm of macrophages. Cultural examination on Novy-MacNeal-Nicolle medium was positive for Leishmania spp. Polymerase chain reaction was positive for Leishmania infantum. The patient was treated with i.m. N-methylglucamine antimonate, with complete remission in approximately 6 weeks. During follow-up of 9 months, no relapses were observed.     

Effects of the new vagolytic compound ciclotropium bromide on heart rate and atrial vulnerability

The effects of the new vagolytic compound alpha-phenylcyclopentane-acetic acid-N-isopropyl-nortropine ester methobromide (ciclotropium bromide) on heart rate and atrial vulnerability were assessed in the animal experiment. Therefore, the comparative effects of atropine (A) and ciclotropium bromide (C) on heart rate (HR) and electrical stimulation thresholds for repetitive atrial extrasystoles (RET) and fibrillation (AFT) were established in 14 mongrel dogs (BW 20-30 kg, artificial ventilation, piritramide-N2O anaesthesia). AFT and RET were determined using trains of rectangular current pulses (13 single pulses, 2 ms, 200 Hz) applied to the right atrial endocardium via bipolar platinum electrodes during the vulnerable period of atrial excitation, which was determined by scanning of the relative refractory period in steps of 10 ms. A (0.025 mg/kg) caused a small transient increase in the AFT; HR rose from 82 +/- 7 to 138 +/- 10/min. Control values were regained after 30 min. RET did not show any significant change. C (0.25 mg/kg) effected a significant increase in the AFT from 7.7 +/- 2 to 34 +/- 6 mA and in HR from 93 +/- 5 to 148 +/- 6/min. The effects lasted about 2 h. RET was not altered.     

Outcome of hospitalized patients with COVID-19 pneumonia treated with high-dose immunoglobulin therapy in a prospective case series

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