5 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.
Recurrent laryngeal papillomatosis is a rare but significant pediatric condition caused by human papillomavirus types 6 and 11. Characterized by the repeated growth of benign exophytic lesions in the respiratory tract, recurrent laryngeal papillomatosis poses a considerable burden due to its recurrent nature, frequent need for surgical intervention, and potential impact on respiratory function. This study aims to describe the epidemiological profile of pediatric recurrent laryngeal papillomatosis in the Republic of Moldova, identify high-risk groups, and explore the socioeconomic implications of the disease.
A retrospective, descriptive observational study was conducted using national data from 198 pediatric patients diagnosed with recurrent laryngeal papillomatosis and treated at the Emilian Coțaga Pediatric Otorhinolaryngology Clinic between 1981 and 2013. Demographic, clinical, and epidemiological variables were analyzed, including age at onset, sex, incidence, prevalence, and geographic distribution. Statistical analysis included descriptive methods, correlation coefficients, and linear regression models. Data were processed using Microsoft Excel and Python, with significance set at p < 0.05, for the 95% confidence interval.
The average annual incidence was approximately 6 new cases, with a peak of 15 in certain years. The estimated prevalence reached 4.2 per 100 thousand children. Most patients were male, and the disease commonly manifested at ages 1 and 4. Correlation analysis revealed strong associations between age, sex, and disease onset, particularly in males. Linear regression confirmed the predictive value of demographic variables, though the model's robustness is limited by sample size. No progression into adulthood was observed, and seasonal or cyclical patterns were not evident.
Pediatric recurrent laryngeal papillomatosis in the Republic of Moldova shows a male predominance and early age of onset, with a consistent but relatively low incidence rate. Demographic indicators may aid in identifying at-risk populations, while early diagnosis and multidisciplinary management are essential to prevent complications. Expanding human papillomavirus vaccination coverage remains a critical public health priority. The findings support the need for prospective, multicenter research integrating vaccination status and immunological biomarkers to enhance disease prevention and control strategies.
Brain injury may affect both afferent and efferent visual pathways. In children it is quite difficult to determine visual disturbances since they are often non cooperative. Visual field examination is an objective evaluation method that can outline visual pathway alteration in the acute period of head trauma.
Forty-eight patients with persisting visual symptoms after mild traumatic brain injury were examined. A control group of the same size has been evaluated.
Patients in the research group showed an obvious alteration of the fixation capacity of more than 20% in 91.7%-95.8%, while in the control group the fixation capacity was up to 20% in 68.7%-70.8%. The ability to fix false positive points was up to 20% in 43.8%-45.8% patients in the research group and 70.8%-83.3% in the control group. The rate to fix false negative points was within the range of up to 20% for the research group in 93.7%-95.8% and the control group 91.7%-97.9%. The index of localized defects was up to 3dB in 62.5%-70.8% in the research group and predominantly 91.6%-95.8% for the control group. The average elevation index was within the range of < -3dB, 3dB> in 12.5%-20.8% research group and respectively 54.1%-56.2% control group. The graphic interpretation of changes in the visual field revealed a prevalence of the incidence of diffuse retinal depression with relative paracentral scotomas in 64.6%-68.7%.
Based on the results, we can conclude that perimetric examination in the case of brain injured pediatric patients fulfils the requirements of credibility. Perimetric examination could be a landmark in the initial phase of settling post brain injured visual disturbances.
Background
The presence of prolonged sinus pauses is quite rare in children and adolescents with structural normal heart. The decision of the optimal therapeutic tactics is always challenging.
Case report
The 16-years-old girl addressed with complains of palpitations and dizziness after the palpitations end. A Holter ECG monitoring was performed with the detection of prolonged sinus pauses after the paroxysm of atrial tachycardia. We decided to perform an electrophysiological study to diagnose the tachycardia type. The presence of atrial tachycardia originating from the ostium of the coronary sinus was demonstrated. We decided to manage the tachyarrhythmia with catheter ablation. During the application of the radiofrequency currents, the tachycardia stopped, and the sinus rhythm was restored. The ablation was preferred over medication taking into consideration the potential risk of worsening of the bradycardia by antiarrhythmic therapy.
The optimal therapeutic solution in similar pediatric cases should be directed towards the supraventricular tachycardia treatment and not to the bradyarrhythmia. The majority of supraventricular tachycardias could be cured by catheter ablation.
COVID-19 is currently considered a systemic disease affecting the immune system, primarily, lungs, heart, central nervous system, kidneys, intestines, liver and spleen. Impaired liver function and the presence of biochemical changes in liver can be found in approximately 14-53% of adults infected with SARS-CoV-2. Impaired liver function in patients infected with COVID-19 may occur due to a direct effect of the virus on hepatocytes, as well as being secondary to factors such as a systemic inflammatory response of the infected host, the onset of hypoxia (associated with lung damage), multiple organ failure, or due to abusive treatment using overlapping and hepatotoxic drugs.
The purpose of this article is to describe a clinical case study regarding the clinical and paraclinical manifestations of liver damage in a 12-year-old child infected with SARS-CoV-2, hospitalized at the Municipal Children’s Clinical Hospital „Valentin Ignatenco”, Republic of Moldova.
The epidemiological, clinical and paraclinical data were used to highlight this study, followed by the conclusions of multidisciplinary specialists, retrieved from the inpatient medical records of the 12-year-old child with moderate COVID-19 infection, who was admitted for emergency treatment.
A 12-year-old patient F. was admitted to the „Covid-19” subunit, complaining of severe general malaise, fever up to 39°C, cough, rhinorrhea. The objective clinical examination revealed hepatomegaly and lack of splenomegaly. Laboratory findings determined leukocytosis 15.88 x109/l, neutrophilia 72.2%, lymphopenia 26.1%, increased ESR (Erythrocyte Sedimentation rate) – 20 mm/h, increased CRP (C-reactive protein) >12.0 mg/l, increased ALT (alanine aminotransferase) by 16 (50.9-487-764 U/l) values compared to the normal reference and a 3-fold increase in AST (aspartate aminotransferase) that is higher than the normal range (55.8 - 113 - 181 U/l), an increased fibrinogen - 5.3 g/l, increased ferritin - 2834 pmol/l and D-dimer levels - 762 ng/ml. Hepatomegaly was detected on abdominal ultrasound. Covid-19 infection was confirmed by a rapid test of nasopharyngeal exudate for SARS-CoV-2 antigens.
Patients with the novel coronavirus (COVID-19) show varying degrees of liver dysfunction, especially those with increased levels of AST and ALT. A question arises within the clinical practice, as whether the liver damage occurred due to direct viral hepatotoxicity or due to the drugs used in COVID-19 treatment.