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Background: Thoracic aortic dissection (TAD) is an uncommon complication in patients with Tetralogy of Fallot (TOF). Information concerning risk factors for TAD in patients with TOF is very limited. Methods: We report a case of Stanford type A TAD in a female patient with previously repaired TOF. Whole exome sequencing (WES); Novogene UK, Agilent V6 capture kit, Illumina HiSeq 100x depth) was performed to identify genetic variants in genes known to be associated with TAD. A systematic literature review was performed in the NCBI PubMed database to identify case reports of TAD in patients with TOF. Results: The patient was a 31-year-old female who developed Stanford type A aortic dissection having had TOF repair at the age of four years. The thoracic aorta was only minimally dilated (sinus of Valsalva 43 mm) on clinical review 16 months prior to TAD. Of note the patient had completed pregnancy 5 months prior to the dissection. There were no other high-risk features predisposing to TAD. WES identified rare genetic variant in a gene previously associated with TAD: MYLK (p.Arg1405His). The literature review identified nine other case reports of TAD in patients with TOF. The reported patients, had no clinical characteristics that distinguished them from the wider population of patients with TOF. Conclusions: The presence of a rare genetic variant in MYLK is a plausible explanation for the clinical presentation. The variant will need further verification to confirm pathogenicity. Pathogenic MYLK variants have been previously reported in context of dissection with minimally dilated aortas.

Intraocular foreign bodies (IOFBs) remain a severe complication of ocular trauma commonly encountered worldwide. This literature review aimed to discuss current practice patterns, areas of controversy, and advances in the management of IOFBs. Injuries involving IOFBs carry significant ocular morbidity and management can be extremely challenging. A systematic approach to preoperative evaluation and IOFB surgical management is detailed in this article and should be applied in each case. The location and composition of an IOFB have important implications on surgical approach and timing, especially in cases of toxic metals and vegetable matter. The advantages, disadvantages, and previous literature regarding immediate versus delayed foreign body removal are presented. Surgical approaches are described, with an emphasis on posterior chamber IOFB management and removal via pars plana vitrectomy. Final visual acuity is variable, but approaches have been used to prognosticate outcomes including the Ocular Trauma Score. By synthesizing current IOFB literature, the goal is to provide practitioners with guidance that will maximize the chances of surgical success and patient outcomes.

Author(s): Ester Conversano [sup.1] , Hanna Debiec [sup.2] , Manuela Colucci [sup.3] , Francesco Emma [sup.1] , Pierre Ronco [sup.2] , Marina Vivarelli [sup.1] [sup.3] Author Affiliations: (1) https://ror.org/02sy42d13, grid.414125.7, [...], Background Membranous nephropathy is a glomerular disease characterized by the presence of immune-complexes deposited in the subepithelial space of the glomerular basement membrane. It is the main cause of nephrotic syndrome in adults, while in children it is very infrequent. Anti-CD20 monoclonal antibodies, mainly rituximab, represent a specific treatment for this disease. Case report We report the case of a child presenting at 2 years of age with steroid-resistant nephrotic syndrome diagnosed upon kidney biopsy as semaphorin 3B (SEMA3B)-associated primary membranous nephropathy. The patient responded to treatment with cyclosporine, but invariably relapsed upon tapering of this agent. Therefore, at age 9, he was successfully treated with rituximab to overcome cyclosporine dependence. However, after the second rituximab infusion, a rapid reconstitution of CD19 + B cells and a relapse of proteinuria occurred, requiring reintroduction of cyclosporine. Obinutuzumab, a type II anti-CD20 monoclonal antibody, was then infused inducing prolonged CD19 + B cell depletion and remission of proteinuria despite discontinuation of cyclosporine. A greater reduction in circulating anti-SEMA3B antibodies assessed by Western blot was observed after obinutuzumab compared with rituximab infusion. Discussion Obinutuzumab was safe and well-tolerated, and may therefore represent an effective therapeutic alternative in children with primary MN and rituximab resistance.

As technology continues to evolve, the possibility for a wide range of dangers to people, organizations, and countries escalate globally. The United States federal government classifies types of threats with the capability of inflicting mass casualties and societal disruption as Chemical, Biological, Radiological, Nuclear, and Energetics/Explosives (CBRNE). Such incidents encompass accidental and intentional events ranging from weapons of mass destruction and bioterrorism to fires or spills involving hazardous or radiologic material. All of these have the capacity to inflict death or severe physical, neurological, and/or sensorial disabilities if injuries are not diagnosed and treated in a timely manner. Ophthalmic injury can provide important insight into understanding and treating patients impacted by CBRNE agents; however, improper ophthalmic management can result in suboptimal patient outcomes. This review specifically addresses the biological agents the Center for Disease Control and Prevention (CDC) deems to have the greatest capacity for bioterrorism. CBRNE biological agents, encompassing pathogens and organic toxins, are further subdivided into categories A, B, and C according to their national security threat level. In our compendium of these biological agents, we address their respective CDC category, systemic and ophthalmic manifestations, route of transmission and personal protective equipment considerations as well as pertinent vaccination and treatment guidelines.

Chemical agents have been utilized for centuries in warfare and pose a health threat to civilians and military personnel during armed conflict. Despite treaties and regulations against their use, chemical agent exposure remains a threat and measures to understand their effects and countermeasures for systemic and organ-specific health are needed. Many of these agents have ocular complications, both acute and chronic. This mini-review focuses on key chemical agents including vesicants (mustards, lewisite), nerve agents (sarin, VX), knockdown gasses (hydrogen cyanide), and caustics (hydrofluoric acid). Their ophthalmic manifestations and appropriate treatment are emphasized. Acute interventions include removal of the source and meticulous decontamination, as well as normalization of pH to 7.2–7.4 if alteration of the ocular pH is observed. Besides vigorous lavage, acute therapies may include topical corticosteroids and non-steroid anti-inflammatory therapies. Appropriate personal protective equipment (PPE) and strict donning and doffing protocols to avoid healthcare provider exposure are also paramount in the acute setting. For more severe disease, corneal transplantation, amniotic membrane graft, and limbal stem cell transplantation may be needed. Orbital surgery may be required in patients in whom cicatricial changes of the ocular surface have developed, leading to eyelid malposition. Multidisciplinary care teams are often required to handle the full spectrum of findings and consequences associated with emerging chemical threats.

Introduction: Uterine leiomyomas, solid benign monoclonal tumors, are the most common pelvic tumor in women. Sex steroid hormones are thought to play a role in their pathogenesis, and they are known to increase with age in premenopausal women. Leiomyomas are exceedingly rare in the pediatric and adolescent population and even more so in premenarchal females. Case presentation: An 11-year-old premenarchal patient presented with a large abdominal mass, which had been increasing in size for the previous year. Laboratory studies were normal. Magnetic Resonance Imaging (MRI) confirmed a solid, circumscribed 8.5× 16.5 × 15.9 cm mass. Open biopsy was consistent leiomyoma. Exploratory laparotomy via infraumbilical vertical midline incision was performed. After exteriorizing the uterus, compressing the uterine arteries with a Penrose drain and injecting dilute vasopressin into the serosa of the uterus, the plane beneath the serosa, between the leiomyoma and normal myometrium was identified. The mass was completely resected without entering the endometrium. The uterus was closed transversely, from cornua to cornua in three layers. Menarche occurred 4 months after surgery. Three years post-operatively, the patient remains menstruating normally and free of recurrent leiomyoma. Conclusion: Though rare in premenarchal patients, leiomyoma should be considered in the differential for pelvic and uterine masses. An understanding of the surgical technique for uterine preservation is important. The underlying factors for stimulation of this large benign uterine mass remain unknown.

Undifferentiated mesenchymal tumors from the intimal layer (intimal sarcomas) are rare within the ventricles and exceptional in children. A rare case of an intimal sarcoma located in the right ventricle in a young child is presented with need for urgent surgical resection due to mechanical flow obstruction. Tumor cells showed amplification of MDM2 gene and a homozygous loss of CDKN2A on 9p21. A review of the literature regarding primary cardiac malignancies and intimal sarcoma in children is provided.

The application of ureolytic bacteria for bioremediation of soil contaminated with heavy metals, including cadmium (Cd), allows for the efficient immobilization of heavy metals by precipitation or coprecipitation with carbonates. Microbially-induced carbonate precipitation process may be useful also in the case of the cultivation of crop plants in various agricultural soils with trace but legally permissible Cd concentrations, which may be still uptaken by plants. This study aimed to investigate the influence of soil supplementation with metabolites containing carbonates (MCC) produced by the ureolytic bacterium Ochrobactrum sp. POC9 on the Cd mobility in the soil as well as on the Cd uptake efficiency and general condition of crop plants (Petroselinum crispum). In the frame of the conducted studies (i) carbonate productivity of the POC9 strain, (ii) the efficiency of Cd immobilization in soil supplemented with MCC, (iii) crystallization of cadmium carbonate in the soil enriched with MCC, (iv) the effect of MCC on the physico-chemical and microbiological properties of soil, and (v) the effect of changes in soil properties on the morphology, growth rate, and Cd-uptake efficiency of crop plants were investigated. The experiments were conducted in soil contaminated with a low concentration of Cd to simulate the natural environmental conditions. Soil supplementation with MCC significantly reduced the bioavailability of Cd in soil with regard to control variants by about 27-65% (depending on the volume of MCC) and reduced the Cd uptake by plants by about 86% and 74% in shoots and roots, respectively. Furthermore, due to the decrease in soil toxicity and improvement of soil nutrition with other metabolites produced during the urea degradation (MCC), some microbiological properties of soil (quantity and activity of soil microorganisms), as well as the general condition of plants, were also significantly improved. Soil supplementation with MCC enabled efficient Cd stabilization and significantly reduced its toxicity for soil microbiota and plants. Thus, MCC produced by POC9 strain may be used not only as an effective Cd immobilizer in soil but also as a microbe and plant stimulators.

Background: Adnexal torsion is the sixth most common pediatric surgical emergency, and one that requires high clinical suspicion and prompt surgical intervention in order to preserve adnexal function. Patients presenting with one or more additional acute medical concerns during an episode of torsion must be managed carefully and effectively to ensure both safe perioperative care and expeditious surgical management. Case Presentation: We review a case of adnexal torsion in a seventeen-year-old female who was found incidentally to have severe hyponatremia, with serum sodium concentration 117 mEq/L. Further workup was initiated for this significant electrolyte derangement. This demonstrated low serum osmolality and high urine osmolality, consistent with syndrome of inappropriate antidiuretic hormone (SIADH). This case represents the first case report of SIADH in the setting of adnexal torsion. Optimizing surgical management was uniquely challenging in this case. In order to preserve fertility in this young patient, urgent detorsion was needed. This had to be balanced with aggressive but safe preoperative normalization of sodium to minimize intraoperative risk. Although serum sodium improved with medical management, it only returned to normal range after the patient underwent surgical detorsion of the adnexa, and resolution of her pain. Conclusions: Although this represents the first reported case of SIADH in the setting of adnexal torsion, the linkage between pain afferents and SIADH has been well documented, suggesting that patients with severe pain from torsion may be at risk for hyponatremia via this mechanism. As such, providers should be aware of the management of SIADH, as well as potential perioperative risks. This case, along with our review of the literature, supports surgical intervention as integral to the definitive coffection of hyponatremia in patients with adnexal masses resulting in SIADH.

Objective The aim of the study was to assess the clinical effectiveness of the national cardiovascular disease (CVD) prevention programme—National Health Service Health Check (NHSHC) in reduction of CVD risk.Design Prospective cohort study.Setting 147 primary care practices in Leicestershire and Northamptonshire in England, UK.Participants 27 888 individuals undergoing NHSHC with a minimum of 18 months of follow-up data.Outcome measures The primary outcomes were NHSHC attributed detection of CVD risk factors, prescription of medications, changes in values of individual risk factors and frequency of follow-up.Results At recruitment, 18% of participants had high CVD risk (10%–20% 10-year risk) and 4% very high CVD risk (>20% 10-year risk). New diagnoses or hypertension (HTN) was made in 2.3% participants, hypercholesterolaemia in 0.25% and diabetes mellitus in 0.9%. New prescription of stains and antihypertensive medications was observed in 5.4% and 5.4% of participants, respectively. Total cholesterol was decreased on average by 0.38 mmol/L (95% CI −0.34 to −0.41) and 1.71 mmol/L (−1.48 to −1.94) in patients with initial cholesterol >5 mmol/L and >7.5 mmol/L, respectively. Systolic blood pressure was decreased on average by 2.9 mm Hg (−2.3 to −3.7), 15.7 mm Hg (−14.1 to −17.5) and 33.4 mm Hg (−29.4 to −37.7), in patients with grade 1, 2 and 3 HTN, respectively. About one out of three patients with increased CVD risk had no record of follow-up or treatment.Conclusions Majority of patients identified with increased CVD risk through the NHSHC were followed up and received effective clinical interventions. However, one-third of high CVD risk patients had no follow-up and therefore did not receive any treatment. Our study highlights areas of focus which could improve the effectiveness of the programme.Trial registration number NCT04417387.

Heart failure (HF) is a clinical syndrome consisting of typical symptoms and signs due to structural and/or functional abnormalities of the heart, resulting in elevated intracardiac pressures and/or inadequate cardiac output. The vascular system plays a crucial role in the development and progression of HF regardless of ejection fraction, with endothelial dysfunction (ED) as one of the principal features of HF. The main ED manifestations (i.e., impaired endothelium-dependent vasodilation, increased oxidative stress, chronic inflammation, leukocyte adhesion, and endothelial cell senescence) affect the systemic and pulmonary haemodynamic and the renal and coronary circulation. The present review is aimed to discuss the contribution of ED to HF pathophysiology—in particular, HF with preserved ejection fraction—ED role in HF patients, and the possible effects of pharmacological and non-pharmacological approaches. For this purpose, relevant data from a literature search (PubMed, Scopus, EMBASE, and Medline) were reviewed. As a result, ED, assessed via venous occlusion plethysmography or flow-mediated dilation, was shown to be independently associated with poor outcomes in HF patients (e.g., mortality, cardiovascular events, and hospitalization due to worsening HF). In addition, SGLT2 inhibitors, endothelin antagonists, endothelial nitric oxide synthase cofactors, antioxidants, and exercise training were shown to positively modulate ED in HF. Despite the need for future research to better clarify the role of the vascular endothelium in HF, ED represents an interesting and promising potential therapeutic target.