The dynamic of changes of pNFH levels in the CSF compared with the motor scales’ scores during three years of nusinersen treatment in children with spinal muscular atrophy types 2 and 3

Neurofilaments are crucial in neuronal cytoskeleton formation, influencing axonal growth and impulse modulation. This study focuses on understanding the dynamics of the phosphorylated neurofilament heavy subunit (pNFH) in pediatric spinal muscular atrophy (SMA) patients un-dergoing Nusinersen treatment. The presence of five neurofilament types, particularly pNFH, is explored as a potential biomarker. SMA, an autosomal recessive disease impacting motor neu-rons, is characterized by disease severity linked to the number of SMN2 gene copies. Approved drugs, including Nusinersen, have demonstrated efficacy in enhancing motor activity. Methods: A retrospective analysis was conducted on 18 pediatric SMA patients treated with Nusinersen from October 2018 to July 2023. Cerebrospinal fluid (CSF) samples were utilized to assess pNFH levels. Motor scales were employed to evaluate performance, focusing on patients with varying SMN2 gene copies. Results: Following the initiation of Nusinersen treatment, a substantial de-crease in pNFH levels was observed in CSF samples. Motor scales indicated improved perfor-mance, particularly in patients with more SMN2 copies. However, the correlation between pNFH levels and motor improvement was not strongly evident, suggesting a limited role as a prognostic indicator within this timeframe. Conclusion: Nusinersen effectively reduced pNFH levels in pediatric SMA patients, showcasing promising outcomes in motor function. However, the predictive value of pNFH remains inconclusive, emphasizing the need for further research. Study limitations, including the rarity of SMA, the absence of a control group, and the disease's dynamic nature over time, should be considered when interpreting these finding

Pregnancy implanted in the scar of caesarean section and the role of the general practitioner

The increase in the number of cesarean sections led to severe complications, such as the ectopic scar pregnancy and the morbidly adherent placenta. The incidence of scar pregnancy is 1/2000 of pregnancies, the more frequently associated with the higher the number of cesarean sections. These can cause severe bleeding, rupture of the uterus, bladder or digestive injury or maternal mortality. The general practitioner has an important role in the diagnosis and monitoring of these patients. He knows the patient's history, is asked in permanent by it and sometimes is in the situation of being the only one checking pregnancy. This work aims to review the diagnostic and monitoring criteria for ectopic scar pregnancy helpful to family physicians. Addressing all patients with a scarred uterus for early screening ultrasound may increase the rate of diagnosis. The family doctor is an essential partnership in monitoring these high risk cases

SĂ PUNEM PUNCTUL PE „i“: CU CE SE CONFRUNTĂ MEDICII IN TIMPUL PANDEMIEI COVID-19?

The COVID-19 pandemic has led to millions of deaths and to several global changes and challenges, hampering everyone's access to health systems in developed countries. The health care system in Romania had periods in this pandemic in which it barely managed the daily cases during this pandemic. Physicians are an essential element for the effective response to public health crises. However, they are not immune to malady or death, stress and overtime, morbidity and mortality problems. The medical staff remains at the base of the pyramid of the healthcare system, so weak during the pandemic. Medical staff need to be protected both mentally and physically, and this can be achieved by working together as a medical team. Continuous mask use in hospitals, advanced knowledge of SARS-CoV-2 infection transmission, the impact of asymptomatic and pre-symptomatic infections, optimizing triage systems, testing patients and vaccination faster outbreak alerts and responses.   Keywords: healthcare system, medical staff, COVID-19 pandemicPandemia COVID-19 a dus la milioane de decese și la mai multe schimbări și provocări globale, împiedicând accesul tuturor la sistemele de sănătate din țările dezvoltate. Sistemul de sănătate din România a avut perioade în această pandemie în care abia a gestionat cazurile zilnice în timpul acestei pandemii. Medicii sunt un element esențial pentru răspunsul eficient la crizele de sănătate publică. Cu toate acestea, nu sunt imuni la boli sau moarte, stres și ore suplimentare, probleme de morbiditate și mortalitate. Personalul medical rămâne la baza piramidei sistemului de sănătate, atât de încercat în timpul pandemiei. Personalul medical trebuie protejat atât mental, cât și fizic, iar acest lucru se poate realiza lucrând împreună ca echipă medicală. Utilizarea continuă a măștilor în spitale, cunoștințe avansate despre transmiterea infecției SARS-CoV-2, impactul infecțiilor asimptomatice și presimptomatice, optimizarea sistemelor de triaj, testarea pacienților și vaccinarea in mod alert și răspunsurilor la focare mai rapide

ACTUAL ANALYSIS OF MODERN THERAPEUTICAL ASPECTS IN HTA TREATMENT AND ASSOCIATED COMORBIDITIES

High blood pressure is a global threat due to its consequences on morbidity and mortality through cardiovascular diseases such as myocardial infarction, stroke or chronic kidney disease. In Romania the prevalence of hypertension has registered an upward trend of 45% of the general population equivalent of 7.4 million persons compared to 40% in 2011

VITAMIN D DEFICIENCY IN PRIMARY CARE

Vitamin D is required to maintain normal blood levels of calcium and phosphate, which are in turn needed for the normal mineralization of bone, also play a role in muscle function, nerve conduction, the immune system and general cellular function in all cells of the body. Populations at risk for vitamin D deficiency are infants, adolescents, eldery, pregnant and lactating women. The actions of the vitamin D hormone 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) are mediated by the vitamin D receptor (VDR), a ligand-activated transcription factor that functions to control gene expression. Epidemiological data underline a strong correlation between vitamin D deficiency and higher risk for chronic inflammatory illnesses or autoimmune diseases. Evidence is not sufficiently to draw conclusions regarding the benefits of vitamin D supplementation for the prevention of cancer. Literature increasingly supports the inverse relationship of vitamin D level and diabetes, metabolic syndrome, cardiovascular disease mortality

GENETIC AND THERAPEUTIC NOVELTIES IN ATOPIC DERMATITIS

Atopic dermatitis (atopic eczema) is a common affection in children, characterized by exacerbations and remissions. The forms may be mild, moderate or severe, the problem of treatment is in moderate and severe forms. Fully understanding this condition can revolutionize the therapy used so far. New generations of target drugs are being studied, some of which have promising results. By reviewing these results, new research opportunities are opened up

Predictors of Atrial Fibrillation Recurrences after a First Radiofrequency Catheter Ablation Intervention for Paroxysmal Atrial Fibrillation—Experience of a Low Volume Ablation Centre

Background and Objectives: Atrial fibrillation recurrences (AFR) after radiofrequency catheter ablation (RFCA) are not uncommon, up to 65% of patients having relapses in the first year. However, current data are based mainly on studies from centres with a large volume of ablations, as they include technically inhomogeneous interventions, and populations with different types of AF. The aim of our study was to assess and stratify the risk at 6 and 12 months for AFR after a single RFCA, in patients with paroxysmal AF, in a centre with low volume activity. Materials and Methods: We enrolled 40 patients who underwent an initial RFCA, followed by continuous 48 h ECG monitoring at 1, 3, 6, and 12 months. Patients self-monitored their cardiac activity by random daily radial pulse palpation or in the presence of palpitations. Results: Ten independent predictors for late AFR were identified, and a 6-month risk score was computed using three of them: AFR duration in the first month, number of AFR between 1 and 3 months, and supraventricular ectopics per 24 h at 6 months. The score can explain 59% of the AFR (p = 0.001). A further 12-month assessment identified three independent predictors. The presence of AFR between 6–12 months is the most important of them (OR = 23.11, 95% CI = 3.87–137.83, p = 0.001), explaining 45% of AFR over 1 year. The risk scores at 6 and 12 months were internally validated. Conclusions: The 6-month score proved to be a useful tool in guiding further strategy for patients with a low risk, while a longer follow-up to 12 months may avoid unnecessary early reinterventions

Predictors of Atrial Fibrillation Recurrences after a First Radiofrequency Catheter Ablation Intervention for Paroxysmal Atrial Fibrillation—Experience of a Low Volume Ablation Centre

Background and Objectives: Atrial fibrillation recurrences (AFR) after radiofrequency catheter ablation (RFCA) are not uncommon, up to 65% of patients having relapses in the first year. However, current data are based mainly on studies from centres with a large volume of ablations, as they include technically inhomogeneous interventions, and populations with different types of AF. The aim of our study was to assess and stratify the risk at 6 and 12 months for AFR after a single RFCA, in patients with paroxysmal AF, in a centre with low volume activity. Materials and Methods: We enrolled 40 patients who underwent an initial RFCA, followed by continuous 48 h ECG monitoring at 1, 3, 6, and 12 months. Patients self-monitored their cardiac activity by random daily radial pulse palpation or in the presence of palpitations. Results: Ten independent predictors for late AFR were identified, and a 6-month risk score was computed using three of them: AFR duration in the first month, number of AFR between 1 and 3 months, and supraventricular ectopics per 24 h at 6 months. The score can explain 59% of the AFR (p = 0.001). A further 12-month assessment identified three independent predictors. The presence of AFR between 6–12 months is the most important of them (OR = 23.11, 95% CI = 3.87–137.83, p = 0.001), explaining 45% of AFR over 1 year. The risk scores at 6 and 12 months were internally validated. Conclusions: The 6-month score proved to be a useful tool in guiding further strategy for patients with a low risk, while a longer follow-up to 12 months may avoid unnecessary early reinterventions

Management of the Two-Week Wait Pathway for Skin Cancer Patients, before and during the Pandemic: Is Virtual Consultation an Option?

Background: Although telemedicine emerged more than 100 years ago, the recent pandemic underlined the role of remote assessment of different diseases. The diagnoses of cutaneous conditions, especially malignant lesions, have placed significant stress on the fast-track pathway for general practitioners (GPs), dermatologists, and plastic surgeons. The aim of the study was to compare (pre- and during the pandemic) the ability of professionals to face the challenge. Methods: The study was composed of 1943 consecutive patients (mean age 61.9 ± 18.3, 53.8% female) assessed by GPs, face-to-face (988 patients, 50.8%, between October 2019 and March 2020) and by virtual (video/photo) visits (955 patients, 49.2%, between March 2020 and October 2020) for skin lesions, and referred to secondary care via the two-week wait pathway for suspected skin malignancy. Results: The two groups had similar primary skin malignancies identification rates (24.3% vs. 22.1%, p = 0.25). The virtual visits identified squamous cell carcinoma (SCC) better than face-to-face consultations (p = 0.04), but identified basal cell carcinoma less-well (BCC, p = 0.02), whereas malignant melanoma (MM) was equally identified in the two groups (p = 0.13). There was no difference in the median breach time (days) of the two-week wait pathway (12, IQR = 6 vs. 12, IQR = 5, p = 0.16) in the two groups. Virtual assessments (by GPs) of skin lesions suspected of malignancy, and referred via the two-week wait pathway, increased the probability of diagnosing SCC by 42.9% (p = 0.03), while for malignant melanomas, face-to-face and virtual consultations were alike (p = 0.12). Conclusions: The equivalent outcomes in the management of skin cancers (SCC, MM) via the two-week pathway through virtual consultations and face-to-face appointments underline the role of telemedicine as a reliable alternative to face-to-face assessments

PREDICTION OF HIV PREVALENCE UNTIL 2022 IN ROMANIA AND THE EUROPEAN UNION

In the last decade, AIDS diagnosis has decreased, most likely through easier access to treatment and faster management of HIV infections. Due to the decrease in the number of AIDS patients, the reduction of deaths and the idea of eradication of AIDS can be considered. For all of this, we need to look at the HIV infection that causes AIDS. HIV infection at European level has been declining in recent years, yet there are still countries that continue to grow. Late diagnosis, pre-exposure prophylaxis and the lack of proper education in prevention are still a problem in some European Union countries