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Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century. Deliberations encompass discrete delineations of each diagnostic modality and the elucidation of potential diagnostic quandaries encountered in select instances, as well as the delineation of genotype–phenotype correlations germane to genetic counseling endeavors. The synthesis underscores that, notwithstanding the availability and strides in diagnostic methodologies, including genetic assays, the sweat test (ST) retains its position as the preeminent diagnostic standard for CF, serving as a robust surrogate for CFTR functionality. Prospective clinical investigations in the realm of CF should be orchestrated with the objective of discerning novel diagnostic modalities endowed with heightened specificity and sensitivity.

Cystic fibrosis (CF) is a multifaceted disorder predominantly investigated for its pulmonary manifestations, yet patients with CF also exhibit a spectrum of extrapulmonary manifestations, notably those involving the hepatobiliary system. The latter constitutes the third leading cause of morbidity and mortality in individuals with CF. Cystic fibrosis-related liver disease (CFLD), with an escalating prevalence, manifests diverse clinical presentations ranging from hepatomegaly to cirrhosis and hepatopulmonary syndrome. Consequently, early detection and appropriate management are imperative for sustaining the health and influencing the quality of life of CF patients afflicted with CFLD. This review aims to consolidate existing knowledge by providing a comprehensive overview of hepatobiliary manifestations associated with CF. It delineates the clinical hepatobiliary manifestations, diagnostic methodologies, incorporating minimally invasive markers, and therapeutic approaches, encompassing the impact of novel CFTR modulators on CFLD. Given the exigency of early diagnosis and the intricate management of CFLD, a multidisciplinary team approach is essential to optimize care and enhance the quality of life for this subset of patients. In conclusion, recognizing CF as more than solely a pulmonary ailment, the authors underscore the imperative for further clinical investigations to establish a more robust evidence base for CFLD management within the continuum of this chronic disease.

Cystic fibrosis (CF) is primarily known for its pulmonary consequences, which are extensively explored in the existing literature. However, it is noteworthy that individuals with CF commonly display gastrointestinal (G-I) manifestations due to the substantial presence of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the intestinal tract. Recognized as pivotal nonpulmonary aspects of CF, G-I manifestations exhibit a diverse spectrum. Identifying and effectively managing these manifestations are crucial for sustaining health and influencing the overall quality of life for CF patients. This review aims to synthesize existing knowledge, providing a comprehensive overview of the G-I manifestations associated with CF. Each specific G-I manifestation, along with the diagnostic methodologies and therapeutic approaches, is delineated, encompassing the impact of innovative treatments targeting the fundamental effects of CF on the G-I tract. The findings underscore the imperative for prompt diagnosis and meticulous management of G-I manifestations, necessitating a multidisciplinary team approach for optimal care and enhancement of the quality of life for affected individuals. In conclusion, the authors emphasize the urgency for further clinical studies to establish a more robust evidence base for managing G-I symptoms within the context of this chronic disease. Such endeavors are deemed essential for advancing understanding and refining the clinical care of CF patients with G-I manifestations.

This paper delineates several aspects of cystic fibrosis-related diabetes (CFRD)—a common complication of cystic fibrosis (CF). CFRD exhibits a predilection for older individuals with CF, yet it also extends its influence on children and adolescents. Scientific insights postulate a potential link between CFRD and the aberrant mucus production within the pancreas, thereby culminating in pancreatic insufficiency. This, in turn, perturbs the synthesis of insulin, a pivotal endocrine hormone responsible for the regulation of glycemic levels. Standardized protocols advocate for the systematic screening of CFRD among all individuals with CF, commencing at the age of 10 years using the oral glucose tolerance test (OGTT). Therapeutic modalities encompass insulin therapy, dietary adjustments, and the vigilant monitoring of glycemic parameters. The overarching objective is to maintain blood glucose levels within a targeted range to mitigate the advent of diabetic complications. Untreated or sub-optimally managed CFRD can precipitate a spectrum of deleterious health ramifications, encompassing cardiovascular afflictions, neuropathy, renal dysfunction, and ocular complications.

Foreign body aspiration (FBA) is a frequent diagnosis in children. In the absence of other lung conditions, such as asthma or chronic pulmonary infections, this manifests as a sudden onset of cough, dyspnea, and wheezing. The differential diagnosis is based on a scoring system which takes into account the clinical picture as well as the radiologic aspects. The treatment that is considered the gold-standard for FBA in children remains to be rigid fibronchoscopy, however it comes with several potentially crucial local complications such as airway edema, bleeding, and bronchospasm, along inherent issues due to general anesthesia. Material and methods: Our study is a retrospective study analyzing the medical files of the cases from our hospital over the span of 9 years. The study group consisted of 242 patients aged 0–16 years diagnosed with foreign body aspiration in the Emergency Clinical Hospital for Children “Sfânta Maria” Iași, between January 2010–January 2018. Clinical and imaging data were extracted from the patients’ observation sheets. Results: In our cohort, the distribution of children with foreign body aspiration was uneven, with the highest incidence being reported in children from rural areas (70% of cases), whereas the most affected age group was 1–3 years, amounting to 79% of all cases. The main symptoms which led to emergency admittance were coughing (33%) and dyspnea (22%). The most important factors that determined the unequal distribution were socio-economic status, which relates to a lack of adequate supervision by parents, as well as the consumption of food inappropriate for their age. Conclusions: Foreign body aspiration is a major medical emergency that may be associated with dramatic clinical manifestations. Several scoring algorithms designed to establish the need for bronchoscopy have been proposed, taking into account both the clinical and radiological results. The issue with asymptomatic or mild symptomatic cases, as well as difficulties managing cases with radiolucent foreign bodies, remains a challenge.

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). In 1949, it's been identified as a monogenic disease and was thought to primarily affect individuals of Northern European descent. It was the most prevalent autosomal recessive disease that shortens life. With the availability of multiple testing methodologies nowadays, there is a chance to create novel and enhanced treatment options. Even in the absence of a high sweat chloride test (SCT) result, the discovery of two causal mutations is diagnostic for cystic fibrosis (CF). For a CF diagnosis, however, at least two positive E sweat chloride tests are still required. In order to achieve early and active intervention to manage cystic fibrosis (CF) and its comorbidities, treatment regimens for pediatric patients should be evaluated, improved, and closely monitored. New developments in the treatment of cystic fibrosis (CF) have led to the development of medications derived from molecules that target the pathogenetic pathway of the illness. These options are very efficient and allow pediatric patients to receive individualized care. However, in order to better direct patient care and enhance patient outcomes, it is crucial to research uncommon CF mutations, which can provide crucial information about the prognosis of the disease and the relationships between genotype and phenotype. To ensure the success of creating novel, safer, and more efficient treatment approaches, a deeper understanding of the pathogeny of the illness is required. In the age of customized medicine, genetic research will be essential to improving patient care and quality of life for those with uncommon mutations.

Exercise-induced bronchoconstriction (EIB) is a dysfunction of the respiratory tract consisting of transient airflow obstruction that occurs during or immediately after physical exercise, being the preferred term to define what was known for years as exercise-induced asthma. Symptoms develop when airways narrow as a result of physical activity. As many as 90 percent of people with asthma also have EIB, but not everyone with EIB has asthma. EIB is defined as the coexistence of at least two of the following symptoms: dyspnea, cough, wheezing, shortness of breath and chest pain, combined with the decrease of forced expiratory volume in one second (FEV1). Perception of these symptoms may restrain children’s ability and willingness to exercise. The pathophysiology of the process and the severity of bronchospasm depend on the level of ventilation, temperature and humidity of the inspired air. The mechanism is related to thermal hyperemia and congestion of small vessels in the bronchial wall. Most of the symptoms are non-specific, the differential diagnosis including chronic lung diseases and certain cardiovascular diseases or gastroesophageal reflux. For the diagnosis of this entity, a series of challenge tests can be used: at graded exercise, voluntary hyperpnea, methacholine, mannitol, hypertonic saline or histamine, FEV1 decreasing by 10-20% depending on the chosen test. Effective treatment includes preventive therapy – prior administration of a beta 2 agonist and/or antileukotriens, or regular CSI treatment in children with asthma that reduce the number of mast cells required for this type of response.

Vasculitis are disorders characterized by the presence of an inflammatory process in the blood vessel wall, resulting in damage or necroses of certain tissues or organs. Numerous clinical symptoms, ranging from acute localized hypersensitivity reactions to severe auto-immune systemic disorders that are incurable and life-threatening, can be attributed to the types and locations of affected arteries as well as the level of inflammation. Typical oral or facial symptoms of several forms of vasculitis can help in an early diagnosis of vasculitis. IgA vasculitis and Kawasaki disease (KD) are the two predominant types of pediatric vasculitis that involve the mouth, followed by ANCA vasculitis. Furthermore, SLE, a connective tissue disease, is one of the most prevalent autoimmune illnesses in children and can proceed rapidly across multiple organs or start mildly and gradually. Numerous more systemic conditions, such as infection, autoinflammatory disorders and neoplasia, can also primary or secondary localize in the oral cavity, infections being more frequent. Many various professionals, including dentists, family physicians, pediatricians, rheumatologists, hematologists, gastroenterologists, and otorhinolaryngologists, examine and treat children with oral symptoms. In 87.7% of patients overall and over 90% of patients with KD and IgA vasculitis (formerly known as Henoch-Schönlein purpura), cutaneous involvement was observed. Recurrent oral aphthous ulcers were present in all Behçet syndrome patients (1).

Within the pediatric population, bronchial asthma is one of the most prevalent chronic respiratory system diseases. The number of exacerbations, severity, and duration of symptoms all have a significant impact on children’s life quality. In the last decades, the prevention and management strategies of this pathology have focused on maintaining or even increasing the pulmonary function to maximum levels in early childhood, as it has been demonstrated that functional deficits at this level occurring before school age cause pathological manifestations later, in adulthood. The epithelium of the airways and implicitly that of the lung is the first barrier against the lesions caused by pro-oxidative factors. Both oxidative and antioxidative factors can be of endogenous origin (produced by the body) or exogenous (from the environment or diet). Good functioning of antioxidant defense mechanisms from the molecular level to the tissue level, and a balance between pro-oxidative factors and anti- oxidative factors, influence the occurrence of compensatory mechanisms at the level of the respiratory epithelium, causing the delay of local responses to the stress induced by chronic inflammation (bronchial remodeling, thickening of airway smooth muscles, bronchoconstriction, bronchial hyper-reactivity). These mechanisms underlie the pathophysiological changes in asthma. Numerous studies carried out among the pediatric population inclusively have demonstrated the effectiveness of antioxidants in the prophylaxis, slowing down and preventing the progression of this pathology. This review complements the scientific articles, aiming at emphasizing the complexity of oxidative physio-pathological pathways and their importance in the occurrence, development, and therapeutic response in asthma, providing a good understanding of the relationship between oxidative and antioxidative factors, and being a source of future therapeutic strategies.