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PURPOSE: GATA2 deficiency is an autosomal dominant disease that manifests with a range of clinical symptoms, including increased susceptibility to viral, bacterial, and fungal infections. Furthermore, the increased susceptibility to infections in GATA2 deficiency can trigger hemophagocytic lymphohistiocytosis (HLH) in these patients. Our systematic review evaluates reported cases of GATA2 deficiency and HLH in the literature. METHODS: A systematic review of case reports was conducted following PRISMA 2020 guidelines, encompassing studies retrieved from Ovid MEDLINE ALL, Embase via Ovid SP, Scopus, Web of Science, and Google Scholar from inception until June 14, 2024. This review included studies reporting patients diagnosed with GATA2 deficiency or having a documented history of the condition, who subsequently developed or were concurrently diagnosed with HLH. Various study types were considered, such as case reports, case series, letters to editors, original articles, correspondences, and commentaries, without any restrictions on language. RESULTS: In our systematic review, 15 studies from 2016 to 2024 were analyzed, encompassing 23 patients with GATA2 deficiency and HLH. the mean (SD) age of patients was 23.48 (10.54) years, ranging from 7 to 57 years. These patients exhibited diverse genetic mutations and a spectrum of infections, particularly Mycobacterium avium (M. avium), Mycobacterium kansasii (M. kansasii), Epstein-Barr virus (EBV), cytomegalovirus (CMV), varicella-zoster virus (VZV), herpes simplex virus (HSV), and influenza A, often leading to HLH. Family histories of GATA2-deficient patients with HLH occasionally reveal confirmed GATA2 mutations or suspicious cases among first-degree relatives. Hematopoietic stem cell transplantation (HSCT) was performed in 8 patients with GATA2 deficiency and HLH. Among them, 6 patients survived post-therapy, while 2 patients died following HSCT. Currently, 1 patient is being considered for HSCT. The overall mortality rate among GATA2 deficiency patients who experienced HLH was 39.13%. CONCLUSIONS: This systematic review highlights GATA2 deficiency's association with diverse infections triggering HLH, emphasizing early infection management to mitigate mortality risks. This comprehensive analysis contributes to scientific knowledge, offering important insights for clinicians and researchers in diagnosing and managing this rare condition.
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Deficiencia GATA2 , Linfohistiocitosis Hemofagocítica , Humanos , Linfohistiocitosis Hemofagocítica/genética , Deficiencia GATA2/genética , Deficiencia GATA2/complicaciones , Factor de Transcripción GATA2/genética , Factor de Transcripción GATA2/deficiencia , Adulto , Niño , Adolescente , Adulto Joven , Femenino , MasculinoRESUMEN
STUDY DESIGN: A Systematic Review OBJECTIVES: To determine the therapeutic efficacy of in vivo reprogramming of astrocytes into neuronal-like cells in animal models of spinal cord injury (SCI). METHODS: PRISMA 2020 guidelines were utilized, and search engines Medline, Web of Science, Scopus, and Embase until June 2023 were used. Studies that examined the effects of converting astrocytes into neuron-like cells with any vector in all animal models were included, while conversion from other cells except for spinal astrocytes, chemical mechanisms to provide SCI models, brain injury population, and conversion without in-vivo experience were excluded. The risk of bias was calculated independently. RESULTS: 5302 manuscripts were initially identified and after eligibility assessment, 43 studies were included for full-text analysis. After final analysis, 13 manuscripts were included. All were graded as high-quality assessments. The transduction factors Sox2, Oct4, Klf4, fibroblast growth factor 4 (Fgf4) antibody, neurogenic differentiation 1 (Neurod1), zinc finger protein 521 (Zfp521), ginsenoside Rg1, and small molecules (LDN193189, CHIR99021, and DAPT) could effectively reprogramme astrocytes into neuron-like cells. The process was enhanced by p21-p53, or Notch signaling knockout, valproic acid, or chondroitin sulfate proteoglycan inhibitors. The type of mature neurons was both excitatory and inhibitory. CONCLUSION: Astrocyte reprogramming to neuronal-like cells in an animal model after SCI appears promising. The molecular and functional improvements after astrocyte reprogramming were demonstrated in vivo, and further investigation is required in this field.
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Traumatismos de la Médula Espinal , Animales , Astrocitos/metabolismo , Neuronas , Transducción de Señal , Médula Espinal/metabolismoRESUMEN
PURPOSE: To determine the prevalence of different extracranial internal carotid artery (EICA) variations in CT angiography (CTA) of the neck and its predisposing factors. METHODS: In this retrospective study from 2021 to 2023 conducted in the radiology department of Shafa Hospital, Kerman, Iran, all patients who had undergone neck CTA were included. Expert radiologists blindly examined each CTA image for the following: EICA variations-coiling, kinking, straight morphology, and tortuosity-and the distance between the internal carotid artery and the apex of the epiglottis and the C2 lower margin. RESULTS: Of the 106 patients, the mean age was 55.9 ± 16.9 years. 64.2% were men, and 35.8% were women. Considering each patient's bilateral anatomy, the reported 70.28% (149/212) frequency of EICA variations of all arteries. Tortuosity, kinking, and coiling variation were found in 61.8%, 4.2%, and 4.2% of arteries, respectively. Also, 54.72%, 1.89%, and 0.94% of the participants had bilateral tortuosity, kinking, and coiling, respectively. There was a significant relationship between the prevalence of EICA variations and female sex, age, and hypertension. CONCLUSION: The frequency of EICA variations in arteries and patients was 70.28% and 73.58%, respectively. Tortuosity was the most common variation. Female sex, old age, and hypertension were significant risk factors for EICA variations.
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Variación Anatómica , Arteria Carótida Interna , Angiografía por Tomografía Computarizada , Humanos , Femenino , Masculino , Persona de Mediana Edad , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/anatomía & histología , Arteria Carótida Interna/anomalías , Estudios Retrospectivos , Factores de Riesgo , Prevalencia , Adulto , Anciano , Irán/epidemiologíaRESUMEN
PURPOSE: To determine existing trends concerning in-hospital mortality in patients with traumatic subaxial cervical spinal cord injury (SCI) over the last four decades. METHODS: We searched MEDLINE and EMBASE to assess the role of the following factors on in-hospital mortality over the last four decades: neurological deficit, age, surgical decompression, use of computed tomography (CT) and magnetic resonance imaging (MRI), use of methylprednisolone in the acute post-injury period, and study location (developing versus developed countries). RESULTS: Among 3333 papers after deduplication, 21 studies met the eligibility criteria. The mortality rate was 17.88% [95% confidence interval (CI): 12.9-22.87%]. No significant trend in mortality rate was observed over the 42-year period (meta-regression coefficient = 0.317; p = 0.372). Subgroup analysis revealed no significant association between acute subaxial cervical SCI-related mortality when stratified by use of surgery, administration of methylprednisolone, use of MRI and CT imaging, study design (prospective versus retrospective study), and study location. The mortality rate was significantly higher in complete SCI (20.66%, p = 0.002) and American Spinal Injury Association impairment scale (AIS) A (20.57%) and B (9.28%) (p = 0.028). CONCLUSION: A very low level of evidence showed that in-hospital mortality in patients with traumatic subaxial cervical SCI did not decrease over the last four decades despite diagnostic and therapeutic advancements. The overall acute mortality rate following subaxial cervical SCI is 17.88%. We recommend reporting a stratified mortality rate according to key factors such as treatment paradigms, age, and severity of injury in future studies.
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Médula Cervical , Traumatismos del Cuello , Traumatismos de la Médula Espinal , Humanos , Mortalidad Hospitalaria , Médula Cervical/diagnóstico por imagen , Médula Cervical/cirugía , Estudios Prospectivos , Estudios Retrospectivos , Traumatismos de la Médula Espinal/diagnóstico por imagen , Traumatismos de la Médula Espinal/cirugía , Metilprednisolona/uso terapéuticoRESUMEN
BACKGROUND: Opalski syndrome, a subtype of lateral medullary syndrome (LMS), poses challenges due to its diverse clinical presentations and potential atypical symptoms. Understanding its epidemiology, clinical manifestations, and outcomes is crucial for optimizing patient care. METHODS: A systematic review, following PRISMA 2020 guidelines, was conducted to comprehensively analyze Opalski syndrome. Data from PubMed, Scopus, Web of Science, and Embase were included, with the search conducted in May 2023. Eligible studies spanned from included case reports, case series, and editorial letters. RESULTS: In the final analysis of 80 studies from 1984 to 2024, a total of 96 patients were evaluated. The analysis revealed a male predominance (76.60â¯%) with a male-to-female ratio of 3.1:1. Common risk factors included hypertension (63.54â¯%), diabetes mellitus (32.29â¯%), smoking (32.39â¯%), and alcohol consumption (22.91â¯%). Opalski syndrome cases were reported in 22 countries across 5 continents, with Asia being the most prevalent region (77.08â¯%). Initial presentations commonly included ataxia or positive finger-to-nose and knee-to-heel tests, dizziness or vertigo, hemiparesis, nystagmus, Horner's sign, and 5th or 7th cranial nerve palsy, all occurring in more than 50â¯% of cases. Neuroimaging techniques such as magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) were crucial for diagnosis. Despite a mortality rate of 4.16â¯%, no deaths have been reported since 2014, indicating advancements in clinical management. CONCLUSION: Targeted risk factor management, early recognition of symptoms, and utilization of advanced neuroimaging techniques are essential for optimizing patient outcomes. Clinicians must remain informed about Opalski syndrome to enhance diagnostic accuracy and tailor treatment strategies.
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Síndrome Medular Lateral , Femenino , Humanos , Masculino , Síndrome Medular Lateral/epidemiología , Síndrome Medular Lateral/complicaciones , Síndrome Medular Lateral/diagnóstico por imagen , Factores de RiesgoRESUMEN
A 67-year-old male presented to the emergency department with a 7-day history of fever, malaise, myalgia, headache, and a seizure episode. Physical examination showed stable vital signs but a fever. Laboratory tests indicated leukocytosis, anemia, thrombocytosis, and elevated inflammatory markers. Imaging revealed multiple intracranial lesions, and cerebrospinal fluid analysis confirmed the presence of acid-fast bacilli. The patient responded well to anti-tuberculosis therapy, showing significant clinical improvement within 8 weeks.
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The COVID-19 pandemic has exerted a notable impact on worldwide health across diverse age groups. Although children and adolescents were initially considered less vulnerable, they have also shown susceptibility to the virus, emphasizing the importance of understanding associated risk factors. Epidemiological data reveal an increasing number of COVID-19 cases in this age group. The aim is to conduct a systematic assessment of the association between the level of vitamin D and COVID-19 infection in children and adolescents following Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive literature search was performed across various databases up to October 7, 2023. Studies assessing laboratory-confirmed COVID-19 patients, the level of 25-hydroxyvitamin D in serum, and clinical outcomes were encompassed. Quality assessment was performed using the Newcastle-Ottawa Scale. Thirteen studies, conducted across six countries and involving 1,071 pediatric patients, were included. Vitamin D deficiency was prevalent among children and adolescents with COVID-19. Some studies suggested that vitamin D deficiency significantly increased the risk of COVID-19 infection and was linked to disease progression. Furthermore, deficiency in vitamin D demonstrated an association with increased levels of inflammatory markers, reduced lymphocyte counts, and heightened clinical symptoms, including fever and cough. Maintaining adequate vitamin D levels may be a crucial strategy for reducing COVID-19 severity and associated complications in children and adolescents. Nevertheless, there is a requirement for additional high-quality research to establish specific guidelines regarding vitamin D supplementation in this population amid the ongoing COVID-19 pandemic.
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Aim: Femoral fractures are one of the most debilitating injuries presenting to the emergency departments (EDs). The pain caused by these fractures is typically managed with opioids and adjunctive regional analgesia. These approaches are often associated with adverse side effects. Thus, appropriate alternative methods should be thoroughly investigated. To evaluate ultrasound-guided femoral nerve block (FNB) with ultrasound-guided fascia iliaca compartment block (FICB) in femoral fractures, to determine which provides better analgesia and less opioid requirement. Methods: This study was a randomized clinical trial performed on adult patients presenting to the ED within 3 h of isolated femoral fracture with initial numerical pain rating scale (NRS-0) score of more than 5. The patients were randomized to receive FNB or FICB. The outcomes were block success rates, pain at 20 (NRS-20) and 60 (NRS-60) min after the end of the procedures, as well as the number and total dose of fentanyl administration during ED stay. Results: Eighty-seven patients were recruited (40 FNB and 47 FICB). Success rates were 82.5% in FNB and 83.0% in FICB group, with no significant difference between the groups. NRS-20, NRS-60, the number of patients who received supplemental fentanyl, and the total dose of administered fentanyl were significantly lower following FNB. However, the length of the procedure was significantly lower in the FICB group. Conclusion: Both FNB and FICB are effective in pain reduction for fractures of femur, but FNB provides more pain relief and less need for supplemental fentanyl.
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Glioblastoma (GBM) is the most typical and aggressive form of primary brain tumor in adults, with a poor prognosis. Successful glioma treatment is hampered by ineffective medication distribution across the blood-brain barrier (BBB) and the emergence of drug resistance. Although a few FDA-approved multimodal treatments are available for glioblastoma, most patients still have poor prognoses. Targeting epigenetic variables, immunotherapy, gene therapy, and different vaccine- and peptide-based treatments are some innovative approaches to improve anti-glioma treatment efficacy. Following the identification of lymphatics in the central nervous system, immunotherapy offers a potential method with the potency to permeate the blood-brain barrier. This review will discuss the rationale, tactics, benefits, and drawbacks of current glioma therapy options in clinical and preclinical investigations.