T. Repetto

End of life care for patients with cystic fibrosis

Palliative care is an approach that improves quality of life for patients and their families facing problems associated with a life-threatening illness. Care planning is particularly important in CF, where predicting a time of death is extremely difficult. The patient and family should receive realistic information about health status and further options of care. Particularly important is the explanation that treatment does not stop during the terminal phase of the disease, instead the primary aim is to alleviate unpleasant symptoms. More invasive end of life care is becoming the norm in patients awaiting lung transplantation. Terminal care should be organised in the place chosen by the patient and their family. Ideally terminal care should not end when the patient dies, instead psychological and spiritual support should continue to bereaved families.

Growth assessment of paediatric patients with CF comparing different auxologic indicators: a multicentre Italian study.

Objectives:To evaluate growth in Italian patients with cystic fibrosis (CF). Patients and Methods:A multicentre cross-sectional study was carried out on patients with CF attending Italian reference centres. Anthropometric data were evaluated using the Centers for Disease Control and Prevention 2000 reference data. Nutritional failure was defined as height-for-age percentile (HAP) <5th (all patients); weight-for-length percentile (WLP) <10th (patients <2 years); body mass index percentile (BMIp) <15th (patients between 2 and 18 years). The risk of malnutrition (defined as HAP, WLP, and BMIp <25th) and the proportion of patients below the “BMIp goal” (BMIp ≥50th) were also evaluated. Nutritional status was evaluated in the whole population and in relation to age, sex, pancreatic insufficiency, meconium ileus, and lung function. Results:A total of 892 patients with CF (50.7% males, mean age 9.2 years, range 0.1–18 years) were enrolled. The proportion of children with HAP <5th, WLP<10th and BMIp<15th was 12.2%. 12.9%, 20.9%, respectively, and 54.4% did not fulfill the BMIp ≥50th goal. HAP <25th identified the highest proportion of children at risk of malnutrition, whereas BMIp <15th identified the highest proportion of children with nutritional failure. Whatever the criterion used to define malnutrition, the highest proportion of children with nutritional failure was found in adolescence (11–18 years). z scores for height, weight, and BMI were significantly associated with pancreatic status and lung function. Differences among centres for the auxologic parameters were not significant, except for BMIp. Conclusions:Nutritional failure is present in a minority of Italian patients with CF, particularly during adolescence. Different auxologic indicators should be used for identifying children at risk for or with actual malnutrition.

Influenza A/H1N1 in patients with cystic fibrosis in Italy: a multicentre cohort study

The clinical consequences of influenza are severe in cystic fibrosis (CF), but the impact of A/H1N1 virus infection remains poorly defined.1 2 Pandemic influenza A/H1N1 started in Italy in September 2009 and CF patients were included among those at risk of complications and recommended to receive A/H1N1 vaccine. Better characterisation of the impact of influenza A/H1N1 in comparison with other flu-like illnesses in CF would provide a rational basis for antiviral treatment and vaccination strategies for the next flu season. Within the Italian Cystic Fibrosis Society, we sent a questionnaire to 30 centres to collect follow-up data for all patients with influenza-like symptoms consecutively seen between November 2009 and March 2010. Realtime RTPCR test was performed to define A/H1N1 status.3 Continuous variables are reported as medians, IQR (see online supplement for details of study methods). Nineteen centres reported data from 127 patients: 68 were ‘A/H1N1+ve’ and 59 were ‘A/H1N1–ve’ for the RT-PCR test. Symptom …

Birth weight for gestational age centiles for Italian neonates

Objective: To provide centiles for birth weight (BW) according to gestational age (GA) and sex for infants born in Italy. Methods: We used records of the whole neonatal population of Tuscany, a region in Italy, from July 1991 to June 2002 as resulting from the database of the cystic fibrosis neonatal screening program (n = 290 129). We excluded as unlikely for GA those BW that were more than two interquartile ranges above the 75th centile or below the 25th centile for each GA and gender group. Results: We present the 3rd, 10th, 25th, 50th, 75th, 90th and 97th centiles of BW for GA from the 24th to 43rd week of gestation for male and female Italian neonates, as both tables and smoothed curves. Conclusions: The large size of the examined population allows us to provide up-to-date, reliable BW for GA centiles for Italian newborns, especially for lower GAs.

Breast-feeding in a woman with cystic fibrosis undergoing antibiotic intravenous treatment

We report the case of a 30-year-old woman with cystic fibrosis (CF) chronically infected with Pseudomonas aeruginosa who delivered and breast-fed a healthy boy. While breast-feeding the woman had to undergo an i.v. antibiotic course with tobramycin, due to pulmonary exacerbation. Tobramycin was not detected in her milk and lactation could be continued. This is the first time that the presence of tobramycin in the milk of a CF woman during i.v. administration has been investigated.

High incidence of cystic fibrosis in children born in Italy to Albanian immigrants

The incidence of cystic fibrosis (CF) can vary significantly among different racial groups; within white populations it has been reported to vary from 1/3419 in the USA to 1/2500 in the UK and 1/4700 in Italy. According to Lewis,1 the highest incidence that can be reliably expected in white populations is 1/2500, although a value as high as 1/936 has been reported in a well defined community.2 Italy and other European countries have experienced a heavy influx of immigrants from Albania in the last 10 years following political and economic upheaval occurring in that country. Although precise numbers are not available, since 1989 some tens of thousands of Albanian immigrants have settled in Tuscany, a region of central Italy populated by 3.5 million people in an area of 23 000 sq km. There are no data on the incidence of CF in Albanians, so we have calculated the incidence …

Sex ratio at birth among Chinese babies born in Italy is lower than in China

In industrial countries sex ratio at birth (SRB) (male/female) varies between 1.07 and 1.03, with a decreasing trend in the past few decades.1 Population statistics of the past 20 years report that SRB in China is constantly and considerably increasing. According to official census data, the SRB of Chinese newborn babies was 1.168 in 2000 but in some provinces it exceeded 1.3.2 The increase of SRB has been a cause of concern in China as it is considered a possible cause of relevant social problems for the future, because of the increasing surplus of adult men without a female partner. As no data are currently available about the SRB among Chinese living outside their homeland, we decided to calculate the SRB of an entire population of live births born during a decade to ethnic Chinese people settled abroad. Tuscany, a region in central Italy with 3.4 million inhabitants, has had a relevant influx of immigrants from China’s People Republic since the early 1990s. According to Italian Statistics Bureau data, 17 400 Chinese immigrants were living in Tuscany by the end of …

Incidence of cystic fibrosis in the Albanian population

BACKGROUND Cystic fibrosis (CF) is the most common life-threatening genetic disease in the Western world. Its incidence varies between 1:4,000 and 1:2,500 among Europeans. No data are available on the incidence of CF among Albanians, mainly due to difficulties of the local health system. GOALS To estimate the incidence of CF and the prevalence of healthy carrier status among Albanian ethnic people; to evaluate the incidence of hypertrypsinaemia at birth among Albanian newborns. METHODS We used the database of the newborn screening of Tuscany, Italy for the period 1991-2005. Children born to both Albanian parents in Tuscany were identified and incidences were calculated. RESULTS The incidence of CF among Albanians (1/555, 99% CI: 1/2,980-1/306) was significantly higher than the rest of the Tuscan population (1/4,101, 99% CI: 1/5,564-1/3,248). The prevalence of CF carrier status among Albanians living in Tuscany is estimated to be 1/12 (99%CI 1/27-1/9) while in the rest of the Tuscan population it is 1/32 (99%CI 1/37-1/28). The incidence of hypertrypsinaemia at birth among Albanian newborns (1/55 99%CI: 1/74-1/44) was significantly higher than in the rest of the population (1/84, 99%CI 1/88-1/82). CONCLUSION The incidence of CF among Albanians is considerably higher than expected. Albanian people have a risk to give birth to children with CF higher than the rest of Europeans. The implementation of a newborn screening program in Albania, together with a CF follow up program is highly advisable.

Long-term health outcomes of neonatal screening for cystic fibrosis

Balfour-Lynn’s review1 underlines the benefits of neonatal screening programmes for cystic fibrosis (CFNSP). However, long-term clinical outcomes still need to be clarified. In particular, only a few published studies have compared the clinical outcomes at age 15 years of screened and non-screened cystic fibrosis (CF) patients.2–4 In Tuscany, Italy (3.5 million inhabitants, CF incidence 1 in 4144)5 a CFNSP has been carried out since 1984 together with a centralised follow-up programme. We wanted to evaluate the clinical benefits of CFNSP in an entire population of CF patients 15 years after diagnosis. To this purpose, we compared the clinical conditions of CF patients born in Tuscany since the introduction of the CFNSP and diagnosed by screening with those of patients followed since diagnosis by our centre and born in the same period but diagnosed …

Birth weight of Chinese babies born in Italy.

Fok et al 1 note that the birth weight (BW) of the Chinese neonates they studied is lower than that of babies born in some western countries and state that a genuine genetic predisposition exists leading to the smaller size of Chinese infants. In Tuscany, an Italian region with 3.4 million inhabitants, about 0.5% of the population are immigrants from the People’s Republic of China. Since the early 1990s, Chinese immigrants in Tuscany …