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1.  Why women do not ask for information on preconception health? A qualitative study 
Background
Preconception care involves health promotion to reduce risk factors that might affect women and couples of childbearing age. The risk factors of adverse reproductive outcomes include recognized genetic diseases in the family or the individual, previous congenital diseases, miscarriage, prematurity, fetal growth restriction, infertility, chronic maternal diseases, lifestyle, and occupational or environmental factors.
Effective preconception care involves a range of preventive, therapeutic and behavioural interventions. Although in Italy there are national preconception care recommendations concerning the general population, they are usually encouraged informally and only for single risk factors. At present there is increasing interest in offering a global intervention in this field. The aim of this study was to investigate attitudes and behaviours of Italian women of childbearing age and healthcare professionals regarding preconception health.
Methods
We conducted a qualitative study among women of childbearing age and healthcare professionals between February 2014 and February 2015. Five focus groups were held: 2 with non-pregnant women aged 22 to 44 years and 3 with healthcare professionals. Discussion topics included women’s questions about preconception health, worries and barriers regarding preconception care interventions, attitudes and behaviours of women and healthcare professionals towards preconception health, women’s information sources. In the analysis of the focus groups priority was given to what was said by the women, supplemented by information from the healthcare professionals’ focus groups.
Results
Fourteen women of childbearing age (8 nulliparae and 6 multiparae) and 12 healthcare professionals (3 nurses, 4 midwives, 5 doctors) participated in the focus groups. The results indicate the presence of many barriers and a lack of awareness of preconception health relating to women, healthcare professionals and policies. Women’s knowledge and attitudes towards primary preconception care information are described. The main reference source of information in this field for Italian women seems to be their obstetric-gynaecologist.
Conclusions
The study indicates that several barriers influence preconception care in Italy. Moreover, a lack of awareness of preconception health and care among Italian women of childbearing age and healthcare professionals emerges. The findings might contribute to strategies for the implementation of preconception care guidelines.
doi:10.1186/s12884-016-1198-z
PMCID: PMC5217233  PMID: 28056865
Preconception health and care; Focus group; Risk factors; Adverse reproductive outcomes; Women of childbearing age; Healthcare professionals
3.  Web-Based Surveillance of Public Information Needs for Informing Preconception Interventions 
PLoS ONE  2015;10(4):e0122551.
Background
The risk of adverse pregnancy outcomes can be minimized through the adoption of healthy lifestyles before pregnancy by women of childbearing age. Initiatives for promotion of preconception health may be difficult to implement. Internet can be used to build tailored health interventions through identification of the public's information needs. To this aim, we developed a semi-automatic web-based system for monitoring Google searches, web pages and activity on social networks, regarding preconception health.
Methods
Based on the American College of Obstetricians and Gynecologists guidelines and on the actual search behaviors of Italian Internet users, we defined a set of keywords targeting preconception care topics. Using these keywords, we analyzed the usage of Google search engine and identified web pages containing preconception care recommendations. We also monitored how the selected web pages were shared on social networks. We analyzed discrepancies between searched and published information and the sharing pattern of the topics.
Results
We identified 1,807 Google search queries which generated a total of 1,995,030 searches during the study period. Less than 10% of the reviewed pages contained preconception care information and in 42.8% information was consistent with ACOG guidelines. Facebook was the most used social network for sharing. Nutrition, Chronic Diseases and Infectious Diseases were the most published and searched topics. Regarding Genetic Risk and Folic Acid, a high search volume was not associated to a high web page production, while Medication pages were more frequently published than searched. Vaccinations elicited high sharing although web page production was low; this effect was quite variable in time.
Conclusion
Our study represent a resource to prioritize communication on specific topics on the web, to address misconceptions, and to tailor interventions to specific populations.
doi:10.1371/journal.pone.0122551
PMCID: PMC4399910  PMID: 25879682
4.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene 
Nature genetics  2013;45(10):1160-1167.
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation to clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have empirical evidence that they cause cystic fibrosis. To address this gap, we collected both genotype and phenotype data for 39,696 cystic fibrosis patients in registries and clinics in North America and Europe. Among these patients, 159 CFTR variants had an allele frequency of ≥0.01%. These variants were evaluated for both clinical severity and functional consequence with 127 (80%) meeting both clinical and functional criteria consistent with disease. Assessment of disease penetrance in 2,188 fathers of cystic fibrosis patients enabled assignment of 12 of the remaining 32 variants as neutral while the other 20 variants remained indeterminate. This study illustrates that sourcing data directly from well-phenotyped subjects can address the gap in our ability to interpret clinically-relevant genomic variation.
doi:10.1038/ng.2745
PMCID: PMC3874936  PMID: 23974870
5.  GENETIC MODIFIERS OF LIVER DISEASE IN CYSTIC FIBROSIS 
Context
A subset (~3–5%) of patients with cystic fibrosis (CF) develops severe liver disease (CFLD) with portal hypertension.
Objective
To assess whether any of 9 polymorphisms in 5 candidate genes (SERPINA1, ACE, GSTP1, MBL2, and TGFB1) are associated with severe liver disease in CF patients.
Design, Setting, and Participants
A 2-stage design was used in this case–control study. CFLD subjects were enrolled from 63 U.S., 32 Canadian, and 18 CF centers outside of North America, with the University of North Carolina at Chapel Hill (UNC) as the coordinating site. In the initial study, we studied 124 CFLD patients (enrolled 1/1999–12/2004) and 843 CF controls (patients without CFLD) by genotyping 9 polymorphisms in 5 genes previously implicated as modifiers of liver disease in CF. In the second stage, the SERPINA1 Z allele and TGFB1 codon 10 genotype were tested in an additional 136 CFLD patients (enrolled 1/2005–2/2007) and 1088 CF controls.
Main Outcome Measures
We compared differences in distribution of genotypes in CF patients with severe liver disease versus CF patients without CFLD.
Results
The initial study showed CFLD to be associated with the SERPINA1 (also known as α1-antiprotease and α1-antitrypsin) Z allele (P value=3.3×10−6; odds ratio (OR) 4.72, 95% confidence interval (CI) 2.31–9.61), and with transforming growth factor β-1 (TGFB1) codon 10 CC genotype (P=2.8×10−3; OR 1.53, CI 1.16–2.03). In the replication study, CFLD was associated with the SERPINA1 Z allele (P=1.4×10−3; OR 3.42, CI 1.54–7.59), but not with TGFB1 codon 10. A combined analysis of the initial and replication studies by logistic regression showed CFLD to be associated with SERPINA1 Z allele (P=1.5×10−8; OR 5.04, CI 2.88–8.83).
Conclusion
The SERPINA1 Z allele is a risk factor for liver disease in CF. Patients who carry the Z allele are at greater odds (OR ~5) to develop severe liver disease with portal hypertension.
doi:10.1001/jama.2009.1295
PMCID: PMC3711243  PMID: 19738092
6.  Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening 
Archives of Disease in Childhood  2007;92(10):842-846.
Objective
To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive trypsin/mutation screening program.
Design
A prospective evaluation of pancreatic function in infants with CF at the time of neonatal diagnosis and up to the age of 12.
Setting
Two different centres (Verona, Italy and Westmead, Australia) to enable comparison of results between two regions where <60% or ⩾90% of patients, respectively, have at least one single ΔF508 a mutation.
Patients
315 children with CF including 149 at Verona and 166 at Westmead.
Interventions
Fat balance studies over 3–5 days and pancreatic stimulation tests with main outcome measures being faecal fat or pancreatic colipase secretion. Patients with malabsorption are pancreatic insufficient (PI) or with normal absorption and pancreatic sufficient (PS).
Results
34 infants (23%) at Verona and 46 (28%) at Westmead were PS at diagnosis. 15% of those with two class I, II or III “severe” mutations and 26/28 (93%) of those with class IV or V mutations were PS at this early age. Of the 80 infants with PS, 20 became PI before the age of 12. All 20 had two severe mutations.
Conclusion
Neonatal mutational screening programs for CF are less likely to detect PS patients with non‐ΔF508 mutations. Of PS patients who are detected, those with two severe class I, II or III mutations are at particularly high risk of becoming PI during early childhood.
doi:10.1136/adc.2006.107581
PMCID: PMC2083233  PMID: 17449517
7.  Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report 
The Journal of pediatrics  2008;153(2):S4-S14.
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF.
doi:10.1016/j.jpeds.2008.05.005
PMCID: PMC2810958  PMID: 18639722
8.  A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis 
Nature genetics  2006;38(6):668-673.
Chronic pancreatitis (CP) is a common inflammatory disease of the pancreas. Mutations in the genes encoding cationic trypsinogen (PRSS1)1 and the pancreatic secretory trypsin inhibitor (SPINK1)2 are associated with CP. Since increased proteolytic activity due to mutated PRSS1 enhances the risk for CP, mutations in the gene encoding anionic trypsinogen (PRSS2) may also act disease predisposing. Here we analyzed PRSS2 in CP patients and controls and found, to our surprise, that a variant of codon 191 (G191R) is overrepresented in control subjects: G191R was present in 220/6,459 (3.4 %) controls but only in 32/2,466 (1.3 %) patients (odds ratio 0.37; P = 1.1 × 10-8). Upon activation by enterokinase or trypsin, purified recombinant G191R protein showed a complete loss of trypsin activity due to the introduction of a novel tryptic cleavage site that renders the enzyme hypersensitive to autocatalytic proteolysis. In conclusion, the G191R variant of PRSS2 mitigates intrapancreatic trypsin activity and thereby plays a protective role against chronic pancreatitis.
doi:10.1038/ng1797
PMCID: PMC2746914  PMID: 16699518
9.  Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations 
The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000). The importance of organizing regional or national laboratory networks, to provide both primary and comprehensive CFTR mutation screening, is stressed. Current guidelines focus on strategies for dealing with increasingly complex situations of CFTR testing. Diagnostic flow charts now include testing in CFTR-related disorders and in fetal bowel anomalies. Emphasis is also placed on the need to consider ethnic or geographic origins of patients and individuals, on basic principles of risk calculation and on the importance of providing accurate laboratory reports. Finally, classification of CFTR mutations is reviewed, with regard to their relevance to pathogenicity and to genetic counselling.
doi:10.1038/ejhg.2008.136
PMCID: PMC2985951  PMID: 18685558
guidelines; recommendations; genetic testing; cystic fibrosis; CFTR; CFTR-related disorders

Results 1-9 (9)