VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imaging at 20 months of age showed left focal cerebellar hypoplasia. Genetic analysis revealed a homozygous missense variant of c.202C > T (p.Arg68Ter) in the VAMP1 gene. Treatment with oral pyridostigmine was started, which resulted in mild improvement in muscle strength. Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report presents novel findings such as focal cerebellar hypoplasia and nephrolithiasis in VAMP1-related CMS-25. Consequently, this case report extends the clinical spectrum. Further studies are needed to expand the genotype-phenotype correlations in VAMP1-related CMS-25.

Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war.

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.

Childhood interstitial lung disease in Turkey: first data from the national registry.

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.

Management of respiratory problems in children on home invasive mechanical ventilation.

The management of respiratory problems in children on home invasive mechanical ventilation (HIMV) is a complex and challenging task. In recent years, with appropriate family education, these patients have been able to be discharged from the hospital and continue their treatment at home. The population of pediatric patients dependent on HIMV has been increasing worldwide, presenting unique and varying care needs. Management of these patients involves addressing ventilator settings, monitoring respiratory status, ensuring airway safety, and providing continuous support and education to patients and their caregivers. Despite the completion of home settings and family education, children on HIMV may encounter various respiratory problems during home follow-up. Prevention and timely management of these complications are crucial to improving patient outcomes. This article summarizes the most significant respiratory problems in children on HIMV and the management strategies for each problem are discussed, emphasizing the importance of appropriate aspiration techniques, regular monitoring, adequate training of caregivers, and a well-prepared emergency plan.

Prevalence and Clinical Characteristics of Pediatric Lower Airway Malacia: Case Series from a Tertiary Center in Turkey.

Introduction: Lower airway malacia (LAM) is characterized by a reduction in the cross-sectional luminal area during quiet respiration. There is no gold standard diagnostic test; however, flexible fiberoptic bronchoscopy (FFB) is most frequently utilized. The exact prevalence and incidence of LAM are unknown. This study aimed to determine the prevalence rates of pediatric patients diagnosed with LAM, offer a detailed understanding of their demographic and clinical characteristics, and investigate distinctions between two specific types of LAM, namely, tracheomalacia (TM) and bronchomalacia (BM). Materials and Methods: Patients younger than 18 years diagnosed with LAM using FFB were included in this retrospective case series. Demographic and clinical characteristics and comorbid disorders were compared between patients with isolated BM and those with isolated TM or tracheobronchomalacia (TM/TBM). Results: Among 390 patients who underwent FFB, 65 (16.6%) were diagnosed with LAM, 16 (24.6%) with TM, and 56 (86.2%) with BM. The median age at diagnosis was 15 months. Among them, 59 (90.8%) had other comorbidities; gastrointestinal (GI) disorders were the most common (38.5%). The most common indications for bronchoscopy were recurrent/prolonged lower respiratory tract infections (LRTI) or wheezing (43.1%), while the most frequently observed respiratory physical examination finding was stridor (35.4%). Patients with TM/TBM had significantly higher frequencies of premature births, stridor, retraction, and GI disorders. Conclusion: Patients with stridor without typical laryngomalacia features or recurrent or prolonged LRTI should undergo prompt evaluation for LAM. The potential coexistence of GI disorders such as gastroesophageal reflux disease and swallowing dysfunction should also be considered.

Psychosocial factors affecting the quality of life of parents who have children with home mechanical ventilation.

INTRODUCTION: Most children with medical complexity have to live with home mechanical ventilation (HMV). Undertaking the care of a child with HMV creates a psychosocial burden on parents. This study investigated the impact of selected potential determinants on the quality of life of parents who have children with HMV. METHODS: A cross-sectional survey study was conducted using a structured questionnaire to determine the sociodemographic characteristics of the parents. The World Health Organization Quality of Life Assessment-Brief version, the Beck Depression Inventory (BDI), and the Multidimensional Scale of Perceived Social Support were applied. RESULTS: A total of 35 participants responded to the questionnaires. Paired data from mothers and fathers were obtained from 12 families. A moderately significant positive correlation was found between the perceived social support levels of the parents and all domains of the quality of life scale (for the physical domain: r = .455, p = .006; for the psychological domain: r = .549, p = .001; for the social domain: r = .726, p = .000; and for the environment domain: r = .442, p = .008). A moderate negative relationship was found between parents' perceived social support levels and BDI scores (r = -.557, p = .001). The multivariate regression analysis determined that being a mother, quitting a job to become a caregiver, being the only caregiver at home, and having a neurological/neuromuscular disease as the primary disease of the child were associated with lower scores in more than one quality of life domain. CONCLUSION: Our results emphasize that appropriate social support is important for improving the quality of life scores of parents of children with HMV.

Risk factors for first nonscheduled hospital admissions of pediatric patients on home mechanical ventilation.

OBJECTIVES: The number of children on home mechanical ventilation (HMV) has increased. Understanding the reasons for nonscheduled hospital admissions during HMV is critical. This study aims to investigate the risk factors of first nonscheduled hospital admissions of pediatric patients on HMV. METHODS: A retrospective analysis of patients on HMV between May 1, 2014 and October 1, 2020 was performed. Patients' demographic characteristics, duration of the education of the primary caregiver; time of first nonscheduled visit; and type of HMV (noninvasive mechanical ventilation [NIV] or invasive mechanical ventilation [IMV]) were analyzed. The reasons for first nonscheduled hospital visits were categorized as respiratory problems and other reasons. RESULTS: Of 97 patients, 41 were female (42.3%), and 70 (72%) were on IMV. The median age was 23 months (IQR, 10-91). Twenty-nine patients (30%), were admitted to hospital before scheduled visit with a mean duration of 18.1 ± 11.6 days; of them, 14 (48.2%) admitted because of respiratory problems. IMV increases the risk of first nonscheduled visit compared to NIV (OR, 16.3; 95% CI, 2.1-127.4; p = .008). If a caregiver spends less than 14 days in hospital for education, risk of nonscheduled visits increases (OR, 4.0; 95% CI, 1.5-11.2; p = .007). CONCLUSION: A minimum 14 days seems to be necessary for education of the caregivers of the patients with HMV to reduce the number of nonscheduled visits, which is a burden for both patients and healthcare system.