Search Results (9)

Introduction: Cystic fibrosis (CF) is a genetic condition affecting several organs and systems, including the pancreas, colon, respiratory system, and reproductive system. The detection of a growing number of CFTR variants and genotypes has contributed to an increase in the CF population which, in turn, has had an impact on the overall statistics regarding the prognosis and outcome of the condition. Given the increase in life expectancy, it is critical to better predict outcomes and prognosticate in CF. Thus, each person’s choice to aggressively treat specific disease components can be more appropriate and tailored, further increasing survival. The objective of our narrative review is to summarize the most recent information concerning the value and significance of clinical parameters in predicting outcomes, such as gender, diabetes, liver and pancreatic status, lung function, radiography, bacteriology, and blood and sputum biomarkers of inflammation and disease, and how variations in these parameters affect prognosis from the prenatal stage to maturity. Materials and methods: A methodological search of the available data was performed with regard to prognostic factors in the evolution of CF in children and young adults. We evaluated articles from the PubMed academic search engine using the following search terms: prognostic factors AND children AND cystic fibrosis OR mucoviscidosis. Results: We found that it is crucial to customize CF patients’ care based on their unique clinical and biological parameters, genetics, and related comorbidities. Conclusions: The predictive significance of more dynamic clinical condition markers provides more realistic future objectives to center treatment and targets for each patient. Over the past ten years, improvements in care, diagnostics, and treatment have impacted the prognosis for CF. Although genotyping offers a way to categorize CF to direct research and treatment, it is crucial to understand that a variety of other factors, such as epigenetics, genetic modifiers, environmental factors, and socioeconomic status, can affect CF outcomes. The long-term management of this complicated multisystem condition has been made easier for patients, their families, and physicians by earlier and more accurate identification techniques, evidence-based research, and centralized expert multidisciplinary care. Full article

Cystic fibrosis (CF), also known as mucoviscidosis, is the most common autosomal recessive genetic disease in the Caucasian population, with an estimated frequency of 1:2000–3000 live births. CF results from the mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene localized in the long arm of chromosome 7. The product of CFTR gene expression is CFTR protein, an adenosine triphosphate (ATP)-binding cassette (ABC) transporter that regulates the transport of chloride ions (Cl⁻) across the apical cell membrane. Primary manifestations of CF include chronic lung and pancreas function impairment secondary to the production of thick, sticky mucus resulting from dehydrated secretions. It is well known that CF can cause both anterior and posterior ocular abnormalities. Conjunctival and corneal xerosis and dry eye disease symptoms are the most characteristic manifestations in the anterior segment. In contrast, the most typical anatomical and functional changes relating to the posterior segment of the eye include defects in the retinal nerve fiber layer (RNFL), vascular abnormalities, and visual disturbances, such as reduced contrast sensitivity and abnormal dark adaptation. However, the complete background of ophthalmic manifestations in the course of CF has yet to be discovered. This review summarizes the current knowledge regarding ocular changes in cystic fibrosis. Full article

The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop–Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies. Full article

Since the onset of the coronavirus disease, COVID-19 pandemic, concern arose for those who might be at higher risk of a worse COVID-19 prognosis, such as those with cystic fibrosis (CF). In this context, we evaluated the features of hospitalized patients with CF due to severe acute respiratory infection (SARI) in Brazil and we also performed a systematic review including all the studies published from the beginning of the first case of COVID-19 (17 November 2019) to the date of this search (23 May 2022) which included, concomitantly, patients with CF and COVID-19 in the worldwide population. In our Brazilian data, we evaluated the period from December 2019 to March 2022, and we included 33 demographical and clinical patients’ features. We classified the patients into groups: (G1) SARI due to another viral infection than severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (23; 5.4%), (G2) SARI due to an unknown etiological agent (286; 67.1%), and (G3) SARI due to SARS-CoV-2 infection (117; 27.5%). The individuals in G3 tended to be older, especially over 50 years old, and presented a higher prevalence of dyspnea, peripheral capillary oxygen saturation (SpO₂) <95%, and cardiopathy. The highest prevalence for intensive care unit (ICU) treatment (52; 44.4%) and invasive mechanical ventilation (29; 24.8%) was for patients in G3. Almost half of the patients in G3 died (51; 43.6%); in contrast, none in G1 died. However, we observed 43 (15.0%) deaths in G2. In addition, 12 (4.2%) and one (0.9%) death not associated with SARI occurred, respectively, in the G2 and G3. The patients who died due to SARS-CoV-2 infection had a higher frequency of SpO₂ <95% (46; 90.2%), ICU treatment (34; 66.7%), and invasive mechanical ventilation (27; 52.9%) when compared to those who recovered. The systematic review comprised a total of 31 papers published as observational studies. These studies comprised 661,386 patients in total, including children, adults, and elderly age groups. However, only 19,150 (2.9%) patients were diagnosed with CF and, from these patients, 2523 (0.4%) were diagnosed with both CF and COVID-19. It was observed that the most common outcome was the need for hospitalization (n = 322 patients with CF), and the need for oxygen support (n = 139 patients with CF). One hundred patients with CF needed intensive care units, fifty patients needed non-invasive mechanical ventilation support, and only three patients were described as receiving invasive mechanical ventilation support. Deaths were described in 38 patients with CF. Importantly, lung-transplanted patients with CF represented an increased risk of death in one publication; in accordance, another study described that lung transplantation and moderate to severe lung disease were independent risk factors for severe outcomes after SARS-CoV-2 infection. In contrast with the literature, in conclusion, Brazilian patients in G3 presented a severe phenotype, even though most of the other studies did not observe worse outcomes in patients with CF and COVID-19. Full article

(1) Background: Since 2013, weekly screening for multidrug-resistant Gram-negative (MDRGN) bacteria has been performed in German neonatal intensive care units (NICU). National guidelines recommend considering these colonization analyses for antibiotic treatment regimens. Our retrospective single center study provides insight into the clinical dichotomy of bacterial colonization and infection rates in neonates. (2) Methods: We analyzed microbiological data of neonates admitted to our tertiary level NICU over nine years. Colonization with MDRGN/Serratia marcescens (SERMA) was compared to microbiological findings in sepsis and pneumonia. (3) Results: We analyzed 917 blood and 1799 tracheal aspirate samples. After applying criteria from the Nosocomial Infection Surveillance for Neonates (NEO-KISS), we included 52 and 55 cases of sepsis and pneumonia, respectively; 19.2% of sepsis patients and 34.5% of pneumonia patients had a prior colonization with MDRGN bacteria or SERMA. In these patients, sepsis was not attributable to MDRGN bacteria yet one SERMA, while in pneumonias, ten MDRGN bacteria and one SERMA were identified. We identified late-onset pneumonia and cesarean section as risk factors for MDRGN/SERMA acquisition. (4) Conclusions: Colonization screening is a useful tool for hygiene surveillance. However, our data suggest that consideration of colonization with MDRGN/SERMA might promote extensive use of last resort antibiotics in neonates. Full article

Neonatal screening has proven its usefulness over time by discovering conditions that can profoundly affect the quality of life and the incidence of mortality and morbidity in the pediatric age. Current neonatal screening in Romania consists of metabolic screening (congenital hypothyroidism, phenylketonuria, and mucoviscidosis), screening for hearing loss, and screening for congenital hip dislocation. A separate category is represented by premature newborns who were admitted to the neonatal intensive care unit and subjected to retinopathy screening. Neonatal metabolic screening has helped in the early detection of inborn errors of metabolism. Since the middle of the 20th century, even though simple and effective test methods for the detection of metabolic diseases have been identified, currently no worldwide consensus has been found regarding the content of neonatal metabolic screening panels. There are vast differences between countries in terms of the number of metabolic diseases identified through the national metabolic screening programs, the number varying from zero to several dozen, the most frequent testing being done for phenylketonuria and congenital hypothyroidism (including in Romania). Given that rare diseases recently identified can be treated effectively, reducing the financial burden on the health system, we can count on their introduction into the national neonatal metabolic screening program. Full article

There is an increasing interest in father–child interactions and their effects. Due to the rising number of working mothers, marital interruptions, divorces, and child custody arrangements, paternal duties and the relevance of fathering continue to be re-evaluated. As there are rising expectations for men to undertake more childcare and household responsibilities, it was hypothesized that the presence of a disabled or chronically ill child would have a significant impact on the couple’s future family situation, marital conduct due to paternal dissatisfaction, and increased stress levels. Therefore, the purpose of this study was to examine paternal intimacy problems, stress levels, and couple satisfaction inside families that have children with cystic fibrosis. The study followed a cross-sectional design with five questionnaires that were answered by a total of 107 fathers of children with cystic fibrosis from the “cases” group as the reference group, and 124 fathers of healthy children from the “control” group. The statistically significant findings of the current study show that men who were taking care of their child with mucoviscidosis engaged less frequently in sexual activity. A significantly higher number of these respondents were smokers. A higher proportion of them reported marital distress (OR = 2.54) and inhibited sexual desire (OR = 2.02), all in association with a higher number of men taking psychiatric medication (7.5% vs. 1.6%). More than 40% of all respondents declared high levels of general stress and parenting distress, while the most frequently used coping mechanism for stress was avoidance-oriented (45.8% vs. 25.8%). Other important findings were the high levels of dissatisfaction and lower levels of marital quality on the SII scale, equivalent to the intimacy problems on the MIQ scale. It is likely that paternal stress is higher when parenting children with cystic fibrosis, and the lack of intervention in this vulnerable group seem to be associated with intimacy problems, couple dissatisfaction, and maladaptive coping mechanisms. It is recommended that these concerns should not only be raised for the mothers of children with mucoviscidosis, but also for the child’s father or the male caretaker partner since they might experience the same problems as the opposite gender. Full article

Mutations in the CFTR chloride channel result in intestinal obstructive episodes in cystic fibrosis (CF) patients and in CF animal models. In this study, we explored the possibility of reducing the frequency of obstructive episodes in cftr^−/− mice through the oral application of a gut-selective NHE3 inhibitor tenapanor and searched for the underlying mechanisms involved. Sex- and age-matched cftr^+/+ and cftr^−/− mice were orally gavaged twice daily with 30 mg kg⁻¹ tenapanor or vehicle for a period of 21 days. Body weight and stool water content was assessed daily and gastrointestinal transit time (GTT) once weekly. The mice were sacrificed when an intestinal obstruction was suspected or after 21 days, and stool and tissues were collected for further analysis. Twenty-one day tenapanor application resulted in a significant increase in stool water content and stool alkalinity and a significant decrease in GTT in cftr^+/+ and cftr^−/− mice. Tenapanor significantly reduced obstructive episodes to 8% compared to 46% in vehicle-treated cftr^−/− mice and prevented mucosal inflammation. A decrease in cryptal hyperproliferation, mucus accumulation, and mucosal mast cell number was also observed in tenapanor- compared to vehicle-treated, unobstructed cftr^−/− mice. Overall, oral tenapanor application prevented obstructive episodes in CFTR-deficient mice and was safe in cftr^+/+ and cftr^−/− mice. These results suggest that tenapanor may be a safe and affordable adjunctive therapy in cystic fibrosis patients to alleviate constipation and prevent recurrent DIOS. Full article

Cystic fibrosis (CF) is one of the most frequent genetic disorders in those with Northern European ancestry. Prenatal testing for cystic fibrosis may be used to plan and prepare for the birth of a child with the disease or to determine whether to terminate the pregnancy. The accessibility of prenatal detection for women with a high genetic risk of delivering a child with cystic fibrosis is determined by CF carriers and those affected by the disease. Moreover, prenatal testing for CF is mainly dependent on invasive diagnostic tests that can influence the mental health of the pregnant woman, and it is assumed that the birth of a CF child will have a serious influence on the couple’s subsequent family planning and marital behavior. The purpose of this research was to examine the marital attitudes of women at risk for cystic fibrosis and the psychological effect of screening for CF among pregnant women. The study followed a cross-sectional design with five questionnaires comprising Prenatal Attachment Interview (PAI), Maternal Antenatal Attachment Scale (MAAS), Pregnancy-Related Anxiety Questionnaire (PRAQ-R2), the Prenatal Psychosocial Profile (PPP), and the Marital Intimacy Questionnaire (MIQ). A total of 84 pregnant women were included in the “carriers” group for CFTR and 91 in the “non-carrier” group. CFTR-carrier mothers were likely to be more affectionate to the fetus, with better maternal–fetal quality and intensity of attachment. The same group of pregnant women was less scared of giving birth or worried about bearing a physically or mentally handicapped child compared to women who were expecting the prenatal diagnosis test for being at risk of delivering a newborn with malformations. CFTR-carrier pregnant women did not score significantly different results in the Prenatal Psychosocial Profile regarding stress levels, social support, and self-esteem. It was also found that intimacy and consensus problems inside the marriage were significantly more often experienced by CFTR carriers. Based on the current findings, it is likely that CFTR-carrier mothers have a better perception of the possible pregnancy outcomes by knowing their abnormal gene carrier status. Therefore, the psychological impact of invasive diagnostic tests is lower in this category compared with those who are unaware of the possible pregnancy outcomes. However, we promote a future analysis for pregnant women with moderate risk of giving birth to a child with single-gene mutations such as cystic fibrosis or other congenital malformations that undergo noninvasive prenatal diagnosis tests, as they become more accurate and might cause lower pre-diagnosis stress levels. Full article