4 articles
DiGeorge syndrome, known also as 22q11.2 deletion syndrome, is a rare multisystemic disorder characterized by a wide range of clinical features and may include thymic aplasia and subsequent immunodeficiency, conotruncal cardiac anomalies, typical facial features, palatal abnormalities, and hypocalcemia due to hypoparathyroidism.
Data were collected for 10 patients genetically confirmed with DiGeorge syndrome at the Institute of Mother and Child. This included general information, laboratory results, and clinical features.
The mean age at diagnosis was 74.6 months (3 months – 28 years). Most cases were sporadic, with only 2 patients having a history of DGS (n=1), or close relatives with cardiac malformations (n=1). The most common symptoms that led to diagnosis were congenital heart defects (90%), and facial dysmorphism (90%). Common clinical features included recurrent infections (40%) and ENT disorders (20%). Weight was within normal percentiles for the entire group, but a delay in height growth was noted. Regarding the immunological characteristics: lymphopenia was recorded in 20% of patients, and thrombocytopenia in 2 patients.
Given the diverse array of symptoms associated with DiGeorge syndrome, physicians should be knowledgeable about both typical and less common characteristics of the syndrome to facilitate optimal treatment and potentially enable early diagnosis.
According to specialized literature, X-rays are also used in the diagnosis and suspicion of chronic broncho-pulmonary disease (bronchopulmonary dysplasia (BPD)), in premature children.
The study included 105 premature babies who were divided into the study group – premature babies with bronchopulmonary dysplasia (BPD) and the control group – premature babies without BPD. Data were statistically analyzed using Microsoft Excel, MedCalc, SPSS and Contingency Table Analysis as a method of evaluating the performance of a diagnostic test.
Radiological changes of discoidal atelectasis type in subjects with BPD were detected in 49.1% in the basic group versus 13.5% in the control group (χ2 = 15.431; p < 0.0001), subsegmental ones 47.2% vs 25.0% (χ2 = 5.586; p = 0.018); pulmonary emphysema areas 62.3% vs 5.8% (χ2 = 37.182; p < 0.0001), opaque fibrosis sectors 50.9% vs 11.5% (χ2 = 18.911; p < 0.0001); signs of pulmonary hypertransparency 47.2% vs 1.9% (χ2 = 28.843; p < 0.0001); microcystic formations 41.5% vs 5.8% (χ2 = 18.482; p < 0.0001). Depending on the severity degrees of BPD, changes such as discoidal atelectasis were noted, in those with mild grade – 50% medium grade – 38.5%, severe grade – 56.3% (χ2 = 16.502; p < 0.001), subsegmental atelectasis 41.7%, vs 38.5% (χ2 = 7.956; p = 0.047), pulmonary emphysema areas 58.3%, vs 38.5%, vs 87.5% (χ2 = 45.138; p < 0.0001); microcystic formations, 33.3%, vs 53.8%, vs 43.8% (χ2 = 20.502; p < 0.0001).
The changes recorded on radiological examination in mild, moderate, and severe cases of BPD in premature babies are of the type discoidal atelectasis, areas of emphysema, opaque sectors of fibrosis, pulmonary hypertransparency, microcystic formations.
COVID-19 infection affects people of any age or gender. It was found that children up to 6 months of age have a major risk of developing a severe form of the infection. Contemporary diagnostic imaging methods of high sensitivity, such as lung CT, allow to establish the degree of lung damage, the volume and the sequelae arising from enduring the COVID-19 infection. The long-term consequences of the COVID-19 infection are still being researched. Pneumonia in the infection of COVID-19 can lead to the long-term development pulmonary fibrosis, atelectasis, bronchiectasis.
The 5-month-old boy is admitted to the Pneumology Clinic with dyspnea, tachypnea, acrocyanosis, agitation, food refusal. It is known from the anamnesis that at the age of 4 months the child suffered a severe form of the COVID-19 infection. Non-contrast lung CT was performed which suggests fibro-atelectatic changes in both lungs, predominantly in the apical and basal segments.
Infants show an increased vulnerability to develop bronchopulmonary changes after COVID-19. The case is suggestive from a clinical point of view, emphasizing the connection between the form, the evolution of the disease, and the consequences arising from the COVID-19 infection. Fibrotic pulmonary evolutionary changes are suggestive of SARS-CoV-2 virus infection.
Oxidative stress can be defined as the imbalance of the redox state of a certain system including living one (organelle, cell, organ/tissue), which excessively produces reactive oxygen and/or reactive nitrogen species (ROS/RNS) that exceed the capacity of the antioxidant defense system, which have the ability to slow down or even prevent the oxidative damage of macromolecules. Oxidative stress is a pathogenic mechanism of a large variety of diseases, including pulmonary one.
81 preterm born children included in the study were divided into the main group – preterm children with bronchopulmonary dysplasia (BPD), and the control group – preterm children without BPD. The comparison groups were prospectively evaluated clinical, instrumental and laboratory (TPA, prooxidant-antioxidant balance, nitric oxide metabolistes and MDA). Data were statistically analyzed using Microsoft Excel, MedCalc and SPSS and Contingency Table Analysis as a way to evaluate the performance of a diagnostic test.
In preterm children with BPD were found to be decreased by 29% (p < 0.001) the prooxidant-antioxidant balance (PAB) and the nitric oxide metabolistes (NO) level by 12% (p < 0.001) compared to children in the control group. The assessment of tissue oxidative damage markers revealed a significant 62% (p < 0.001) increase in malonic dialdehyde (MDA) content and a 4.86-fold (p < 0.001) increase in total prooxidant activity (TPA) in children with bronchopulmonary dysplasia compared to children in the control group. Our study confirms that TPA, PAB, MDA and NO values are reliable markers of hypoxic tissue damage at children with bronchopulmonary dysplasia and can be recommended for assessing the intensity of oxidative stress.
Pulmonary bronchodysplasia is characterized by the imbalance of prooxidant-antioxidant processes with the exacerbation of prooxidant ones that trigger the oxidative/nitrosative stress and the deterioration of vital chemical compounds.