Sweat Testing and Recent Advances Gokdemir, Yasemin; Karadag, Bulent Taner
Frontiers in pediatrics,
05/2021, Letnik:
9
Journal Article
Recenzirano
Odprti dostop
Cystic fibrosis (CF) is the most common fatal genetic disease of the Caucasian population. Sweat testing is the principal diagnostic test for CF, and it is used for the evaluation of infants with ...positive CF newborn screening (NBS) and in patients with clinical findings suggesting CF. This article describes the classical sweat test method in detail and also provides an overwiew of recent advances.
To address the discrepancy in the quality of care and outcomes between cystic fibrosis centers (CFCs) in high‐income countries and limited resources countries (LRCs), a collaboration between our team ...at the University of Michigan CFC (UMCFC) and a CF center in Turkey (Marmara University CFC MUCFC, Istanbul) was established. The collaboration included evaluation of all aspects of care and initiation of quality improvement (QI) measures. Teaching and implementing QI tools has led to start of improvement in MUCFC care. Close monitoring and sharing resources like UMCFC algorithms, protocols, and QI processes were done.
Introduction
Caregiver burden impacts both the social and economic framework of society. Cystic fibrosis (CF) causes significant caregiver burden, but the current data is scarce. In the case of ...primary ciliary dyskinesia (PCD), even less is known. This study aims to compare the caregiver burden of the parents of patients with CF and PCD.
Methods
Patients with CF and PCD between the ages of 6 to 13 and their parents were included. Patients’ clinical information and parents’ demographics were recorded. Caregiver burden was measured with Zarit Caregiver Burden Scale (ZCB), while the quality of life (QOL) was measured with CFQOL—revised (CFQOL‐R) and PCD QOL questionnaire as the patients’ age and diagnosis indicated.
Results
A total of 63 patients, 44 with CF (69%) and 85 caregivers (35 mothers, 6 fathers, and 22 mother‐father dyads) participated in the study. Caregiver burden was significantly higher in mothers of the CF group with a mean ZCB of 30.5 ± 10.7 when compared to the PCD group with a mean ZCB of 21.93 ± 8.26 (P = .006). This was similar in fathers with mean ZCB of 27.5 ± 9.21 in the CF group and 20.36 ± 7.43 in the PCD group (P = .03). In correlation analyses, mothers’ caregiver burden moderately and inversely correlated with CFQOL‐R subscales in the CF population.
Conclusion
Caregiver burden is significantly higher in the CF population when compared to PCD. It is correlated with pulmonary functions and QOL in patients with CF.
Obstructive sleep apnea (OSA) is characterized by recurrent complete or partial obstruction of the upper airway. The prevalence is 1-4% in children aged between 2 and 8 years and rising due to the ...increase in obesity rates in children. Although persistent OSA following adenotonsillectomy is usually associated with obesity and underlying complex disorders, it can also affect otherwise healthy children. Medical treatment strategies are frequently required when adenotonsillectomy is not indicated in children with OSA or if OSA is persistent following adenotonsillectomy. Positive airway pressure treatment is a very effective modality for persistent OSA in childhood; however, adherence rates are low. The aim of this review article is to summarize medical treatment options for OSA in children.
Background
Depression and anxiety symptoms in patients with cystic fibrosis (CF) and their caregivers are 2–3 times higher than in the normal population. This study aims to evaluate the frequency and ...severity of depression and anxiety symptoms and to determine possible risk factors in CF patients and their mother and/or fathers at Marmara University CF center.
Methods
The study included 132 CF patients who were followed up at our CF center. Patient Health Questionnaire (PHQ‐9) and the Generalized Anxiety Disorder Questionnaire (GAD‐7) were used to screen depression and anxiety. The questionnaires were completed by 50 CF patients (aged 12–17 years) and 132 parents of patients (aged 0–17 years).
Results
While moderate to severe depressive symptoms were seen in 26% of patients, 33.7% of mothers and 14.6% of fathers; moderate to severe anxiety were present in 18%, 21.8% and 8.5%, respectively. None of the demographic characteristics was identified as a predictor of depression or anxiety. GAD‐7 scores have shown a higher prevalence of anxiety in mothers of patients with chronic methicillin‐resistant Staphylococcus aureus (p = .034). Additionally, hospitalization in the last 12 months was significantly correlated with higher PHQ‐9 scores in fathers (p = .043). Analysis of patients' adherence to medical treatment and airway clearance showed higher depression and anxiety in mothers of the nonadherent group (p = .002).
Conclusion
Depression and anxiety were common in CF patients and their parents. These results illustrate the importance of depression/anxiety screening and psychosocial support for the CF patient and their parents.
Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent studies ...suggest it is underdiagnosed. This study aims to present the demographic, clinical, and genetic characteristics of CF patients among Arab refugees in Turkey. Additionally, a comparison is made between the findings in the National CF Registry 2021 in Turkey (NCFRT) and the refugee CF patient group. The study included refugee patients between the ages of 0 and 18 years who were diagnosed with CF and received ongoing care at pediatric pulmonology centers from March 2011 to March 2021. The study examined demographic information, age at diagnosis, age of diagnosis of patients through CF newborn screening (NBS), presenting symptoms, CF transmembrane conductance regulator (CFTR) mutation test results, sputum culture results, weight, height, and body mass index (BMI) z score. Their results were compared with the NCFRT results. The study included 14 pediatric pulmonology centers and 87 patients, consisting of 46 (52.9%) boys and 41 (47.1%) girls. All of the patients were Arab refugees, with 80 (92%) being Syrian. All the patients were diagnosed in Turkey. The median age at diagnosis of patients was 22.33 (interquartile range, 1–258) months. The median age of diagnosis of patients through NBS was 4.2 (interquartile range, 1–12) months. The median age of older patients, who were unable to be included in the NBS program, was 32.3 (interquartile range, 3–258) months. Parental consanguinity was observed in 52 (59.7%) patients. The mutation that was most frequently found was F508del, which accounted for 22.2% of the cases. It was present in 20 patients, constituting 32 out of the total 144 alleles. There was a large number of genetic variations. CFTR genotyping could not be conducted for 12 patients. These patients had high sweat tests, and their genetic mutations could not be determined due to a lack of data. Compared to NCFRT, refugee patients were diagnosed later, and long-term follow-up of refugee CF patients had significantly worse nutritional status and pseudomonas colonization.
Conclusion
: Although refugee CF patients have equal access to NBS programs and CF medications as well as Turkish patients, the median age at diagnosis of patients, the median age of diagnosis of patients through NBS, their nutritional status, and Pseudomonas colonization were significantly worse than Turkish patients, which may be related to the difficulties of living in another country and poor living conditions. The high genetic heterogeneity and rare mutations detected in the refugee patient group compared to Turkish patients. Well-programmed NBS programs, thorough genetic studies, and the enhancement of living conditions for refugee patients in the countries they relocate to can have several advantages such as early detection and improved prognosis.
What is Known:
• Children who have chronic diseases are the group that is most affected by wars.
• The outcome gets better with early diagnosis and treatment in patients with Cystic Fibrosis (CF).
What is New:
• Through the implementation of a newborn screening program, which has never been done in Syria previously, refugee patients, the majority of whom are Syrians were diagnosed with cystic fibrosis within a duration of 4 months.
• Despite equal access to the newborn screening program and CF medications for both Turkish patients and refugee patients, the challenges of living in a foreign country have an impact on refugees.
•Treatment of SMA within the first days of life may result in essentially normal outcome.•Early diagnosis of SMA is mandatory for the outcome of treatment.
New molecular therapies are available for ...the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.
Background
Chronic pulmonary infection is the leading cause of mortality and morbidity in patients with cystic fibrosis (CF). The most common pathogens isolated in CF are Staphylococcus aureus (SA) ...and Pseudomonas aeruginosa (PA). Chronic infection of PA and methicillin‐resistant S. aureus (MRSA) are associated with worse survival and antibiotic eradication treatment is recommended for both. This study compared the outcomes between intravenous (IV) and non‐IV antibiotics in eradication of PA and MRSA.
Methods
This was a single‐center retrospective study. All respiratory specimen cultures of 309 CF patients and eradication regimens between 2015 and 2019 were reviewed. Patients received eradication treatment in case of first ever isolation or new isolation after being infection‐free ≥1 year. The primary analysis was the comparison of the percentage of successful eradication after receiving IV and non‐IV eradication regimens. Demographic and clinical risk factors for eradication failure were also analyzed.
Results
One hundred and two patients with PA isolations and 48 patients with MRSA were analyzed. At 1 year, 21.6% in PA group and 35.4% in MRSA group were successfully eradicated. There was not any statistically significant difference between IV versus non‐IV antibiotic regimens on eradication in either group. Additionally, none of the clinical risk factors was significantly associated with eradication failure in PA and MRSA groups.
Conclusion
In the eradication of PA and MRSA, IV and non‐IV treatment regimens did not show any superiority to one another. Non‐parenteral eradication could be a better option considering the cost‐effectiveness and the treatment burden of IV treatments due to hospitalization and the need for IV access.
Airway clearance techniques, which include positive expiratory pressure (PEP) devices, are essential in the pulmonary rehabilitation of cystic fibrosis (CF). Bottle-PEP is a low-cost but an effective ...alternative.
The aim of this study is to document the sustainability and safety of Bottle-PEP therapy as a home rehabilitation aid.
The study has been designed as a prospective case series. Patients with CF at the age of 6-18 years in acute exacerbation period were included in the study. Bottle-PEP training was given by a competent physiotherapist to those patients who did not use any method, and those who currently use another device were followed up with their existing devices. Thus, patients divided into two groups were followed up for 1 year. The patients were evaluated by phone every 2 weeks for exacerbation, regular and proper use of the device, and satisfaction during their follow-up. The patients were evaluated every 3 months with pulmonary function tests, 6-minute walking test (6MWT) and quality of life.
Thirty-four patients were included in the study. The acute exacerbation score of the patients was 4.5 in the Bottle-PEP group and 6 in the other group, showing no significant difference (
= .1). Treatment compliance scores were compared, the median value of the Bottle-PEP group was 24 the other group was 27 and there was no significant difference (
= .6). During follow-up of, there were no significant differences in FEV1, 6MWT and quality of life data (
> .05).
Bottle-PEP treatment is not different from other devices in terms of long-term usability and safety in patients diagnosed with cystic fibrosis.
The childhood interstitial lung diseases (chILD) Turkey registry (chILD-TR) was established in November 2021 to increase awareness of disease, and in collaboration with the centers to improve the ...diagnostic and treatment standards. Here, the first results of the chILD registry system were presented. In this prospective cohort study, data were collected using a data‐entry software system. The demographic characteristics, clinical, laboratory, radiologic findings, diagnoses, and treatment characteristics of the patients were evaluated. Clinical characteristics were compared between two main chILD groups ((A) diffuse parenchymal lung diseases (DPLD) disorders manifesting primarily in infancy group1 and (B) DPLD disorders occurring at all ages group 2). There were 416 patients registered from 19 centers. Forty-six patients were excluded due to missing information. The median age of diagnosis of the patients was 6.05 (1.3–11.6) years. Across the study population (
n
= 370), 81 (21.8%) were in group 1, and 289 (78.1%) were in group 2. The median weight
z
-score was significantly lower in group 1 (− 2.0 − 3.36 to − 0.81) than in group 2 (− 0.80 − 1.7 to 0.20) (
p
< 0.001). When we compared the groups according to chest CT findings, ground-glass opacities were significantly more common in group 1, and nodular opacities, bronchiectasis, mosaic perfusion, and mediastinal lymphadenopathy were significantly more common in group 2. Out of the overall study population, 67.8% were undergoing some form of treatment. The use of oral steroids was significantly higher in group 2 than in group 1 (40.6% vs. 23.3%, respectively;
p
= 0.040).
Conclusion
: This study showed that national registry allowed to obtain information about the frequency, types, and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients.
What is Known:
• Childhood interstitial lung diseases comprise many diverse entities which are challenging to diagnose and manage.
What is New:
• This study showed that national registry allowed to obtain information about the frequency, types and treatment methods of chILD in Turkey and helped to see the difficulties in the diagnosis and management of these patients. Also, our findings reveal that nutrition should be considered in all patients with chILD, especially in A-DPLD disorders manifesting primarily in infancy.
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