Discoveries (Craiova, Romania)最新文献

Cardiovascular (CV) imaging is rapidly transforming with the advent of artificial intelligence (AI), automating and augmenting diagnostic pipelines in echocardiography, computed tomography (CT), magnetic resonance imaging (MRI), and nuclear imaging. In this review, we summarize recent developments in convolutional neural networks for real-time echocardiographic interpretation, deep learning for coronary artery calcium scoring that achieves near-perfect agreement with manual methods, and AI-driven plaque quantification and stenosis detection on coronary CT angiography, which achieves an accuracy of ≥ 96%. FDA-approved platforms (e.g., Aidoc, HeartFlow, Caption Health) emphasize clinical translation, while automated segmentation and perfusion analysis in cardiac MRI produce Dice coefficients ≥ 0.93. We critically analyze persistent issues, algorithmic bias, explainability, data privacy, regulatory heterogeneity, and medico-legal liability. We also discuss risk-reduction tactics, such as federated learning and human-in-the-loop oversight. Reactive diagnostics will allow proactive, personalized treatment in the future, assuming we look ahead, thanks to multimodal AI, wearable sensors, and predictive analytics. For AI to fully optimize cardiovascular care, thorough validation, open algorithmic design, and interdisciplinary cooperation will be necessary.

Acute scrotum in neonates is a rare condition with multiple causes, including incarcerated hernia, testicular torsion, birth trauma, gross hydrocele, and neonatal adrenal haemorrhage, the least common aetiology. Early diagnosis and intervention are essential to prevent testicular ischemia. Due to the continuity between the retroperitoneum and the scrotum via the processus vaginalis and inguinal canal, blood from an adrenal haemorrhage may track down into the scrotum, leading to swelling and discoloration.  We report a case of a 1-day-old male neonate born via emergency caesarean section at 37 weeks due to foetal distress. The baby initially admitted to the NICU for transient tachypnoea, developed a right hemi-scrotal swelling with bluish discoloration on the second day of life. Scrotal ultrasound suggested testicular torsion, but Doppler imaging showed absent blood flow. Further abdominal ultrasound confirmed a right adrenal haemorrhage. The neonate was managed conservatively with intravenous fluids, antibiotics, oxygen support, and coagulation management. Serial ultrasounds showed gradual resolution, and he was discharged on the 17th postnatal day. Follow-up at 1 and 3 months showed complete recovery with normal growth.  Neonatal adrenal haemorrhage should be considered in cases of acute scrotum, especially in neonates with birth asphyxia. Abdominal ultrasound can aid in diagnosis, preventing diagnostic delays, unnecessary surgery, and anaesthesia exposure. This case highlights the importance of thorough imaging and awareness of rare differential diagnoses, contributing to improved clinical practice and better neonatal outcomes.

Low-grade fibromyxoid sarcoma (LGFMS) is a rare fibroblastic neoplasm with an indolent clinical course. It is a distinctive subclass of soft tissue sarcoma with metastasizing potential and sometimes a long interval between tumor presentation and metastasis. This case report describes a 60-year-old female with an unresectable pleural LGFMS initially misdiagnosed as malignant mesothelioma. Pleural LGFMS remains exceedingly rare, with only four prior cases reported. Given its histologically benign appearance, LGFMS poses diagnostic challenges and risks of local recurrence or metastasis. This case underscores the importance of accurate diagnosis using MUC4 and it explores endocrine therapy as a promising palliative option for unresectable LGFMS, contributing valuable insights into management strategies for this rare entity.

Ganaxolone, a neuroactive steroid that increases GABAergic inhibition, has been tested in many trials for the resolution of different epileptic disorders. Based on these, our study implemented a systematic review to evaluate the general benefit of ganaxolone for seizures. Pubmed, google scholar, European PubMed Central, Cochrane Library, and U.S. National Library of Medicine Clinical Trials were searched for relevant randomized controlled trials (RCTs) up to March 2023 and 12 RCTs were included in this review. We included 1337 patients from 12 RCTs to evaluate the efficacy and safety of ganaxolone. As results showed, across all trials, 26.3% of participants reported >50% reduction from baseline in seizure frequency. The analysis revealed that the nervous system was the most impacted, with dizziness, somnolence, headache, and seizures being the most frequently reported treatment-related adverse events (TRAEs). The results of these trials suggest that ganaxolone may be effective in reducing seizure frequency in patients with various types of epilepsy, including CDKL5 deficiency disorder, Lennox-Gastaut syndrome, and Protocadherin 19. However, further studies are needed to determine its safety and efficacy in a larger patient population.

This comprehensive review explores the intricate relationship between stimulants abuse, particularly involving caffeine, amphetamines, methylphenidate and cocaine, offering a detailed and insightful overview of the multifaceted consequences of stimulant drug use on the cardiovascular system. Substance abuse is a medical and socioeconomic issue, which should be regarded properly with respect to its multifaceted implications. For instance, chronic usage exponentially increases the cardiovascular risk, leading to high morbidity and mortality rates. Arrhythmias, atherosclerosis, thrombosis and ischemia are just some of the direct effects of stimulants on vessels and heart, which lead in time to more severe pathological changes, such as hypertension, cardiomyopathies, valvulopathies, myocardial infarction, peripheral artery disease and other cerebrovascular diseases. The different approaches and diverse perspectives of this review, highlight the clinical significance of this complex field. Moreover, opportunities for further research and exploration are pointed out, thus  promoting public education, personalized medical approaches, and targeted interventions to mitigate the substantial morbidity and mortality linked to stimulant abuse. Hopefully, this effort will enhance public cardiovascular well-being.

Carotid-Cavernous Fistulas (CCFs) are abnormal arteriovenous connections between the carotid artery and the cavernous sinus, resulting from trauma. This case report presents a 47-year-old male who developed a CCF following a road traffic accident. The patient exhibited symptoms such as pulsatile exophthalmos and an ocular bruit, characteristic of CCFs. Diagnosis was confirmed through Digital Subtraction Angiography (DSA), revealed the origin of the fistula. The patient was treated using a novel combined approach of microsurgery and endovascular intervention, involving ligation of the internal carotid artery and transarterial coil embolization. The treatment resulted in rapid resolution of symptoms, including the pulsatile exophthalmos and ocular bruit. This case highlights the importance of a multidisciplinary approach, blending microsurgical and advanced endovascular techniques, in effectively managing traumatic CCFs. The study underscores the value of early diagnosis and the evolving role of minimally invasive procedures in improving patient outcomes.

Gastrointestinal stromal tumours (GIST) are rare mesenchymal tumours which represent 1% to 3% of all gastrointestinal neoplasms. Rectal location of GIST is extremely rare accounting for 5% of GIST and only 0.1% of rectal tumours. They usually metastasise to the liver (65%). We hereby report a case of rectal stromal tumour with hepatic metastasis. A 55-year-old female presented with pelvic pain, associated with rectal bleeding. A thoracoabdominal computed tomography showed a large heterogeneous enhancing mass, arising from the rectum, anal canal and distal sigmoid colon measuring 12.3x8.7x7.6cm. Based on histopathological examination followed by immunohistochemistry, she was diagnosed with locally advanced rectal GIST. The tumour reduced in size after neoadjuvant-targeted treatment with imatinib. A local resection of the rectal GIST was successfully performed, and a diversion colostomy was done, later colostomy bag was attached. Following the operation, oral imatinib treatment was continued. On subsequent follow-up, her triple phase CECT whole abdomen showed multiple small well-defined peripherally enhancing hypodense liver lesions, the largest measuring 29x18mm suggestive of metastases. Ultrasound-guided fine needle aspiration from a liver lesion was reported as metastatic GIST. The patient underwent surgery, sunitinib was started and was discharged in stable condition. Thus, cytologic examination provides rapid interpretation, is a less invasive technique than open biopsy, and provides a cost-effective modality for diagnosing and managing inaccessible lesions.

Clear cell adenocarcinoma of the cervix is a rare neoplasm that accounts for about 4-9% of all uterine cervical adenocarcinoma. It was first reported in young women with in-utero exposure of diethylstilbesterol (DES). However, many cases have been reported post-ban of DES that are not associated with diethylstilbesterol (DES). Here, we are reporting a case of clear cell adenocarcinoma in an 18-year-old woman without any exposure history of DES. An exophytic mass arising from the anterior lip was found in MRI. Biopsy from the mass was diagnosed as Clear cell adenocarcinoma of the cervix based on histopathological and immunohistochemical findings. The patient then underwent a total hysterectomy and bilateral salpingo-oophorectomy. One each of the right pelvic lymph nodes and external iliac lymph nodes showed metastatic deposits. The patient was staged as FIGO stage I [AJCC TNM staging (8th Edition): pT2b pN1]. Post 6 months follow up there is no evidence of any recurrence.

Triton X-100 is a cell-permeabilizing agent, widely used in molecular studies to enhance the permeability of cellular membranes. It has detrimental effects on the cell surface receptors thereby not suitable for surface receptor protein studies. Therefore, in the present study the protein expression of Notch surface receptor was analyzed with and without exposure of cell surfactant i.e. Triton X-100. It was observed that cultured cortical cells treated with Triton X-100 gave false protein expression due to the disruption of cellular membrane. On the contrary, cells without surfactant treatment exhibit fluorescence proportional to the true presence of Notch 1 receptors. This method can be followed for the analysis of any surface receptor protein through immunofluorescence to exclude any false expression.

Human metapneumovirus is a respiratory pathogen that infects children, the elderly, and immunocompromised individuals. Despite its global prevalence, underdiagnosis persists because of clinical overlap with other respiratory viruses. The current approach is mostly supportive, with oxygen therapy and hydration being crucial interventions. Ribavirin contains antiviral properties but has little clinical application. Vaccine development is moving forward, with prospects including live-attenuated, subunit-based, and virus-like particle vaccines. Molecular diagnostics, such as RT-PCR and metagenomic sequencing, have increased detection rates, which aids epidemiological monitoring. Monoclonal antibodies targeting the fusion (F) protein are being studied for passive immunity, while immunomodulatory treatments such as corticosteroids and intravenous immunoglobulins may help treat severe cases. Emerging treatments include fusion inhibitors and pan-pneumovirus vaccinations that protect against HMPV and RSV. Future research should concentrate on optimizing antiviral methods, increasing vaccination trials, and improving surveillance to detect outbreaks. A multidisciplinary approach that combines virology, immunology, and epidemiology is required to reduce HMPV's effect and improve patient outcomes. This review serves as a comprehensive literature about HMPV which provides all the crucial clinical perspectives and the latest advancements in management, antivirals, patient prognosis as well and diagnostic modalities.