Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leading to hepatosplenomegaly, cytopenia, and bone pain. Anemia in GD is typically considered to result from non-hemolytic processes. Although rare, a higher rate of hemolytic anemia of the autoimmune type has been reported in GD than in the general population. The literature on non-immune hemolytic anemia in GD is scarce. We review the literature on hemolytic anemia in GD and report on a case of non-immune hemolytic anemia secondary to GD. We believe this is the first description of a patient with confirmed GD and symptomatic non-immune hemolytic anemia that responded to GD-specific treatment.
Objective: This study examined the reliability of the various parameters obtained in diagnostic ureteroscopy for upper-tract urothelial carcinoma (UTUC) in predicting the degree of differentiation in the final pathological report after radical nephroureterectomy (RNU).
Methods: We conducted a retrospective review of patients undergoing RNU at a single tertiary hospital between 2000 and 2020. Only patients who underwent preoperative diagnostic ureteroscopy (URS) were included. The results of urine selective cytology, endoscopic appearance of the tumor, and biopsy taken during ureteroscopy were compared to the final pathological report.
Results: In total, 111 patients underwent RNU. A preliminary URS was performed in 54. According to endoscopic appearance, 40% of the “solid”-looking tumors were high grade (HG), while 52% of those with a papillary appearance were low grade (LG). Positive cytology predicted HG tumors in 86% of cases. However, 42% of patients with negative cytology had HG disease. The biopsies acquired during URS showed that HG disease findings matched the final pathology in 75% of cases. However, 25% of patients noted as being HG, based on URS biopsies, were noted to have LG disease based on nephroureterectomy biopsies. Full analyses revealed that 40% of the cases diagnosed as LG based on the URS biopsies actually had HG disease.
Conclusions: Direct tumor observation of papillary lesions, negative cytology, and biopsies indicating LG disease are of low predictive value for classifying the actual degree of tumor differentiation. No single test can accurately rule out HG disease. In light of the rising use of neo-adjuvant chemotherapy in UTUC, a reliable predictive model should be developed that accurately discriminates between HG and LG disease.
Coronavirus disease 2019 (COVID-19) is a global respiratory disease with unique features that have placed all medical professionals in an alarming situation. Preeclampsia is a hypertensive disorder of pregnancy affecting 8%–10% of India’s pregnant population. Assuming that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters host cells through the angiotensin-converting enzyme 2 (ACE2) receptor, the resulting symptoms are due to vasoconstriction, caused by disturbances in the renin–angiotensin system (RAS). Other features of preeclampsia include endothelial dysfunction due to placental ischemia, leading to imbalances in angiogenic and antiangiogenic factors which result in increased blood pressure, proteinuria, altered hepatic enzymes, renal failure, and thrombocytopenia, amongst others. The increased prevalence of preeclampsia that was seen among mothers with SARS-CoV-2 infection might be due to misdiagnosis, as COVID-19 and preeclampsia have coincidental medical features. The major similarities of SARS-CoV-2-infected and preeclamptic women are a rise in pro-inflammatory cytokines, and increased serum ferritin and thrombocytopenia. Therefore, differential diagnosis might be difficult in pregnant women with COVID-19 who present with hypertension and proteinuria, thrombocytopenia, or elevated liver enzymes. The most promising markers for earlier diagnosis of preeclampsia is soluble endoglin (sEng), pregnancy-associated plasma protein-A (PAPP-A), soluble fms-like tyrosine kinase 1 (sFlt-1), and placental growth factor (PlGF). Due to placental hypoxia, sFlt-1 will be overproduced, thus inhibiting PlGF, and this alteration will be observed in the circulation five weeks or more before the onset of symptoms. The sFlt-1/PlGF ratio may also be modified via infectious states, but unregulated levels of those mediators are related to placental insufficiency. Hence, pregnant women with COVID-19 may develop a preeclampsia-like syndrome that might be differentiated properly by angiogenic markers to avoid unnecessary interventions and induced preterm labor.
Background: The increasing resistance of many bacterial pathogens against antibiotic measures urgently requires new or repurposing therapeutic strategies. Gentian violet is a triarylmethane dye used as a histological stain and for Gram’s method of classifying bacteria. It also exerts an antimicrobial effect against certain pathogens, especially dermatological infections. Safranin is the most popular counterstain used in medical laboratories due to its low cost and safe laboratory usage. However, few studies have been conducted on the antimicrobial activity of safranin.
Objective: With the growing prevalence of multidrug-resistant bacteria, this study aimed to evaluate the antibacterial efficacy of gentian violet and safranin against multidrug-resistant Staphylococcus aureus (S. aureus) and Pseudomonas aeruginosa (P. aeruginosa).
Methods: All tested bacteria were multidrug-resistant (MDR) bacteria isolated from skin infections (abscesses and wounds). Using gentian violet and safranin, antibacterial effects were studied using the well-diffusion method against 20 samples of clinically isolated bacteria, 10 diagnosed as S. aureus, and 10 as P. aeruginosa. Bacteria were diagnosed using the VITEK 2 automated system (bioMérieux, Marcy-l’Étoile, France). Iodine served as the control agent, since both Gram-positive and Gram-negative bacteria are sensitive to it.
Results: Gentian violet dye has been shown to be 100% sensitive to both Gram-positive and Gram-negative bacterial isolates. Although safranin also had high sensitivity (100%) to S. aureus isolates, its sensitivity to P. aeruginosa was only 20%. Staphylococcus aureus was more resistant to iodine (40% sensitivity) compared to P. aeruginosa, which was 100% sensitive to iodine.
Conclusions: Gentian violet and safranin are low-cost and better tolerated topical agents that have potential for use in dermatological applications. Gentian violet had good antibacterial activity against both Gram-positive and Gram-negative bacteria, making it useful for treating bacterial skin pathogens such as S. aureus and P. aeruginosa especially for MDR bacteria. While safranin has good efficacy against Gram-positive bacteria (S. aureus), its effect against Gram-negative bacteria (e.g. P. aeruginosa) is poor.
Purpose: This case series analyzed the appropriateness of computed tomography (CT) and magnetic resonance imaging (MRI) for visualization of rhinoorbitocerebral mucormycosis (ROCM) patterns associated with type 2 diabetes (T2D) post-recovery from coronavirus disease 2019 (COVID-19).
Methods: The study included 24 patients with invasive ROCM after having recovered from COVID-19. All patients underwent CT examinations and microbiological and histological verification; 5 patients underwent MRI.
Results: The CT and MRI patterns noted in our patients revealed involvement of skull orbits, paranasal sinuses, large arteries, and optic nerves, with intracranial spread and involvement of the cranial base bones. Using brain scan protocol for CT provided better soft-tissue resolution. We found that extending the MRI protocol by T2-sequence with fat suppression or STIR was better for periantral fat and muscle evaluations.
Conclusion: Computed tomography of the paranasal sinuses is the method of choice for suspected fungal infections, particularly mucormycosis. However, MRI is recommended if there is suspicion of orbital, vascular, or intracranial complications, including cavernous sinus extension. The combination of both CT and MRI enables determination of soft tissue invasion and bony destruction, thereby facilitating the choice of an optimal ROCM treatment strategy. Invasive fungal infections are extremely rare in Europe; most of the related data are provided from India and Middle Eastern or African nations. Hence, this study is notable in its use of only diagnosed ROCM cases in Russia.
This case study describes the successful short-term outcome of staged minimally invasive pectus excavatum correction and endoscopic mitral valve repair in a patient with severe mitral valve regurgitation and pectus excavatum.
Late-onset nasolacrimal duct obstruction (NLDO) as a result of inflammatory processes causing dacryostenosis is a common entity affecting mostly women. While a few mechanisms have been suggested as contributors to the expression of NLDO, the trigger for the inflammation remains mostly unknown. Familial predilection for this condition has not been previously reported. We present two families with multiple individuals affected with congenital or late-onset NLDO, describe the signs and symptoms of the affected individuals, and explore their medical history for any contributing factors. Family A, spanning four generations, included 7 female patients affected by late-onset NLDO. Family B, spanning two generations, included 8 individuals affected by either congenital or late-onset NLDO. This case series suggests a familial predisposition to NLDO, apparently with an autosomal dominant inheritance pattern. Further studies are needed to elucidate the molecular basis of this genetic predisposition.
The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were elaborated to allow authors of such papers to identify quality articles for inclusion in their scholarly work. However, we have identified several issues that point to an over-reliance on the PRISMA guidelines. Firstly, we question the rigor of implementation by authors and the rigor of verification by peer reviewers and editors, and whether they have screened papers to ensure adherence to the PRISMA guidelines. Secondly, we have identified cases where the PRISMA criteria led to as much as 99.97% of the published literature being ignored, suggesting that valid publications meeting these criteria might be at risk of being ignored. Thirdly, we have noted that exclusion is not only a quantitative problem—it is also a qualitative one, since the screening procedure groups all non-conforming literature into one basket. Fourthly, we have noted that seven copies of the PRISMA guidelines exist. This being the case, which one should be cited? To replace over-reliance on PRISMA screening, we encourage authors, peer reviewers, and editors to publish systematic reviews and meta-analyses that respect the dual criteria of scientific plausibility and diversity of included papers.
At the time of writing, in July 2020, the recently emerging SARS-CoV-2 pandemic has attracted major attention to viral diseases, in particular coronaviruses. In spite of alarming molecular evidence, documentation of interspecies transmission in livestock, and the emergence of two new and relatively virulent human coronaviruses within a 10-year period, many gaps remain in the study and understanding of this family of viruses. This paper provides an overview of our knowledge regarding the coronavirus family, while highlighting their key biological properties in the context of our overall understanding of viral diseases.
The COVID-19 pandemic is different from previous pandemic diseases in many ways. One of them relates to the literature. There is an exponential increase in the number of articles since April 2020. Also, and equally drastic, is how readily available they are to the general reader. It will be interesting to analyze (in the future) if advances in information age have played any significant role in the battle against our current pandemic.
