Prospective validation of a virtual post-operative clinic in vitreoretinal surgery.

PURPOSE: To evaluate the clinical efficacy and safety of asynchronous virtual post-operative assessments following vitreoretinal surgery and procedures compared to traditional face-to-face assessments in a high-volume tertiary eye centre. METHODS: Prospective comparative clinical series study of patients who had undergone vitreoretinal surgery or post-laser retinopexy. Patients received both virtual and face-to-face assessments. The virtual assessment included clinical questions, visual acuity measurement, and virtual retinal imaging using ultra-wide field (UWF) imaging and macular optical coherence tomography (OCT). Face-to-face assessments involved standard clinical examinations. RESULTS: We included 142 patients undergoing a variety of vitreoretinal procedures. We showed comparable results between virtual and face-to-face assessments in both, post-operative and post-laser treatments. UWF imaging with macular OCT demonstrated potential for effective virtual post-operative assessment. The virtual assessment has a sensitivity of 91% and specificity of 100% for detecting retinal detachments with 100% specificity and 100% sensitivity for detecting new retinal tears or insufficient laser treatment. CONCLUSIONS: The implementation of asynchronous virtual post-operative assessments following a variety of vitreoretinal procedures is a promising alternative to traditional face-to-face assessments. Virtual assessments using UWF imaging and macular OCT showed high sensitivity and specificity. Virtual post-operative clinics offer the potential to improve patient access and decrease the clinical burden, especially with the continuing evolution of telemedicine technologies and imaging modalities.

YOUNG USERS OF ELECTRONIC CIGARETTES EXHIBIT REDUCED CARDIORESPIRATORY FITNESS.

BACKGROUND: Electronic nicotine delivery systems, often referred to as e-cigarettes, are popular tobacco products frequently advertised as safer alternatives to traditional cigarettes despite preliminary data suggesting a potential negative cardiovascular impact. Cardiorespiratory fitness is a critical cardiovascular health marker that is diminished in individuals who consume traditional tobacco products. Whether the use of e-cigarettes impacts cardiorespiratory fitness is currently unknown. Thus, the purpose of this study was to investigate the impact of regular e-cigarette use on cardiorespiratory fitness in young healthy adults. METHODS: Twenty-six users of e-cigarettes (ECU, 13 males, and 13 females; age: 24±3 yr; e-cigarette usage 4±2 yr.) and sixteen demographically matched non-users (NU, 6 males, and 10 females; age: 23±3 yr.) participated in this study. Cardiorespiratory fitness was measured by peak oxygen consumption (VO2peak) during a cardiopulmonary exercise test. Measurements of chronotropic response, hemodynamic, oxygen extraction and utilization were also evaluated. RESULTS: Our results suggest that regular users of e-cigarettes exhibited significantly lower peak oxygen consumption when compared to non-users, even when controlled by fat-free mass and lean body mass. Hemodynamic changes were not different between both groups during exercise, while lower chronotropic responses and skeletal muscle oxygen utilization were observed in users of e-cigarettes. CONCLUSIONS: Results from the present study demonstrate that young, apparently healthy, regular users of e-cigarettes exhibit significantly reduced cardiorespiratory fitness, lower chronotropic response, and impaired skeletal muscle oxygen utilization during exercise. Overall, our findings contribute to the growing body of evidence that supports adverse effects of regular e-cigarette use on cardiovascular health.

A Comparative In Vitro Physicochemical Analysis of Resin Infiltrants Doped With Bioactive Glasses.

Objective This study aimed to investigate the longevity and effectiveness of bioactive glass (BAG)-based dental resin infiltrants. Materials and methods The three types of BAG - 45S5 bioglass (RIS), boron-substituted (RIB), and fluoride-substituted (RIF) - were incorporated with photoinitiated dimethacrylate monomers to create experimental resin infiltrants. ICON® (CN; DMG-America, Ridgefield Park, NJ) and pure resin (PR) were used as control groups in this study. Disc-shaped samples were prepared for the experimental and control groups. The samples were challenged with the pH cycle and immersed in the artificial saliva for 30 days. On Day 0 and Day 30, the pH cycle and artificial saliva immersion, Vicker's microhardness, surface roughness, and surface morphology were investigated. Results The RIF group's disc samples showed the highest Vicker's microhardness values (78.20 ±0.06) on Day 30 of artificial saliva immersion, whereas the CN group's values were the lowest (55.99 ±0.24). Following the pH cycling, the RIF displayed the highest hardness (64.15 ±1.89) whereas the CN group's values were the lowest (33.47 ±1.28). Regarding surface roughness, on Day 30, the RIB resin group exhibited the highest (1.14 ±0.001 µm). In contrast, the CN resin showed the lowest (1.07 ±0.06 µm) values, while immersed in the artificial saliva solution. In the same duration of time, in the pH cycling solution, PR showed the least (0.85 ±0.89 µm), while RIF showed the highest roughness value (0.94 ±0.54 µm). Morphological analysis revealed that following the artificial saliva immersion, the RIB, CN, and PR exhibited smoother surfaces compared to the RIS and RIF groups. However, when immersed in the pH cycling solution, RIB and RIF showed more resistance against acid attack. Conclusions Our results revealed that the experimental resin groups performed much better than the commercial resin infiltrants following artificial saliva and pH cycling challenges.

Unraveling the Rare Entity of KIT D816V-Negative Systemic Mastocytosis.

Systemic mastocytosis (SM) is a rare type of myeloproliferative neoplasm characterized by abnormal proliferation and infiltration of different tissue by clonal mast cells. The uncontrolled proliferation and activation of mast cells trigger the release of vasoactive and inflammatory mediators, resulting in a cascade of systemic symptoms. Around 95% of SM arise from a gain-of-function mutation at the KIT gene, specifically at codon 816, which highlights its essential role in SM and makes it an attractive target for therapy. Although KIT-negative SM is exceptionally rare, the increased number of cases documented in the literature makes it an intriguing dimension of this disorder. The reported clinical manifestations of KIT-negative SM are widely variable, but many are similar to KIT-positive SM. KIT-targeted therapeutic options have been a game-changer in KIT-positive SM, however their role in KIT-negative SM remains controversial. This report aimed to further understand KIT-negative SM by presenting two cases of KIT-negative SM, one of which was responsive to KIT-targeted therapy, and analyzing reported cases in the existing literature.

Management of Ischemic Stroke in a Tertiary Care Hospital in Khyber Pakhtunkhwa: Existing Status and Prospective Opportunities.

Background and objective Khyber Pakhtunkhwa is the third largest province of Pakistan by population and has a high incidence of ischemic stroke. We evaluated all patients who presented to the largest tertiary care facility in the province to learn about the current trends in the management of ischemic stroke and explore future opportunities in this regard.  Materials and methods This prospective observational research was carried out at the Lady Reading Hospital-Medical Teaching Institute (LRH-MTI), Peshawar, in the province of Khyber Pakhtunkhwa (KP). The hospital's ethics committee granted the required permissions for the research. Any patient with an ischemic stroke diagnosis, regardless of age, met the inclusion criteria if their diagnosis was confirmed by clinical assessment, imaging (such as CT or MRI), or both. The clinical parameters that were evaluated included the duration since the patient's reported onset of symptoms, the patient's first mode of transfer to the hospital (such as ambulance, private vehicle, or other means), and the date and time of admission to the hospital. A structured database containing the data was utilized, and IBM SPSS Statistics for Windows, Version 25 (released 2017; IBM Corp., Armonk, New York, United States) was used for statistical analysis. Results One hundred fifty-six stroke patients were diagnosed throughout the study period, with 76 of them having an ischemic stroke, accounting for 49% of all stroke cases. Approximately 43% (n = 33) of the patients were from Peshawar, with the remaining patients coming from adjacent districts. There was only a small percentage (19%, n = 15) of patients who were eligible for any thrombolytic therapy, and the majority (93%) were brought by private vehicles. There was a significant association between age and arrival in the emergency room (p = 0.003). Conclusion The study reveals subpar ischemic stroke management in Khyber Pakhtunkhwa, requiring coordinated efforts, modernization of treatment methods, and increased public awareness to improve patient outcomes.

Single-base tiled screen unveils design principles of PspCas13b for potent and off-target-free RNA silencing.

The development of precise RNA-editing tools is essential for the advancement of RNA therapeutics. CRISPR (clustered regularly interspaced short palindromic repeats) PspCas13b is a programmable RNA nuclease predicted to offer superior specificity because of its 30-nucleotide spacer sequence. However, its design principles and its on-target, off-target and collateral activities remain poorly characterized. Here, we present single-base tiled screening and computational analyses that identify key design principles for potent and highly selective RNA recognition and cleavage in human cells. We show that the de novo design of spacers containing guanosine bases at precise positions can greatly enhance the catalytic activity of inefficient CRISPR RNAs (crRNAs). These validated design principles (integrated into an online tool, https://cas13target.azurewebsites.net/ ) can predict highly effective crRNAs with ~90% accuracy. Furthermore, the comprehensive spacer-target mutagenesis revealed that PspCas13b can tolerate only up to four mismatches and requires ~26-nucleotide base pairing with the target to activate its nuclease domains, highlighting its superior specificity compared to other RNA or DNA interference tools. On the basis of this targeting resolution, we predict an extremely low probability of PspCas13b having off-target effects on other cellular transcripts. Proteomic analysis validated this prediction and showed that, unlike other Cas13 orthologs, PspCas13b exhibits potent on-target activity and lacks collateral effects.

Understanding the Role of Large Language Models in Personalizing and Scaffolding Strategies to Combat Academic Procrastination.

Traditional interventions for academic procrastination often fail to capture the nuanced, individual-specific factors that underlie them. Large language models (LLMs) hold immense potential for addressing this gap by permitting open-ended inputs, including the ability to customize interventions to individuals' unique needs. However, user expectations and potential limitations of LLMs in this context remain underexplored. To address this, we conducted interviews and focus group discussions with 15 university students and 6 experts, during which a technology probe for generating personalized advice for managing procrastination was presented. Our results highlight the necessity for LLMs to provide structured, deadline-oriented steps and enhanced user support mechanisms. Additionally, our results surface the need for an adaptive approach to questioning based on factors like busyness. These findings offer crucial design implications for the development of LLM-based tools for managing procrastination while cautioning the use of LLMs for therapeutic guidance.

Prevalence of post-traumatic stress disorder and depressive symptoms among civilians residing in armed conflict-affected regions: a systematic review and meta-analysis.

Background: Globally, populations afflicted by armed conflict are known to have high rates of mental health disorders. Aims: This meta-analysis aims to estimate the prevalence of post-traumatic stress disorder (PTSD) and depressive symptoms among civilians residing in armed conflict-affected regions. Methods: This meta-analysis was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. A literature search employing MEDLINE(R), Embase Classic+Embase, APA PsycINFO, Ovid Healthstar, Journal@Ovid Full Text, Cochrane, PTSDpubs and CINAHL was conducted from inception until 19 March 2024 to identify relevant studies. Quality assessment was performed using the Joanna Briggs Institute Critical Appraisal Checklist for Prevalence Studies, and a Comprehensive Meta-Analysis was used to conduct the statistical analysis. Results: The search yielded 38 595 articles, of which 57 were considered eligible for inclusion. The included studies comprised data from 64 596 participants. We estimated a prevalence of 23.70% (95% CI 19.50% to 28.40%) for PTSD symptoms and 25.60% (95% CI 20.70% to 31.10%) for depressive features among war-afflicted civilians. The subgroup analysis based on time since the war and the country's economic status revealed the highest prevalence for both PTSD and depressive symptoms was present during the years of war and in low/middle-income countries. Conclusions: The results of this study provide conclusive evidence of the detrimental impacts of armed conflict on mental health outcomes. Hence, it is crucial to emphasise the significance of both physical and mental health in the aftermath of war and take appropriate humanistic measures to overcome challenges in the management of psychiatric illnesses. PROSPERO registration number: CRD42023416096.

Amisulpride as the antipsychotic of choice in severe psychotic disorder with comorbid impaired glucose tolerance.

Antipsychotics are the mainstay treatment for the majority of severe mental illnesses. Such patients are also more prone to develop medical comorbidities, which complicate the treatment decisions. It is estimated that up to 40% of individuals with schizophrenia have impaired glucose tolerance (IGT) or diabetes, which can be attributed to a combination of genetic, lifestyle, and medication-related factors. Some widely used antipsychotic medications like olanzapine, risperidone, and clozapine have been associated with an increased risk of weight gain, insulin resistance, and other metabolic abnormalities, which can worsen IGT and increase the risk of developing diabetes. Among second-generation antipsychotics (SGAs), amisulpride, aripirazole, and ziprasidone have a fairly low potency to cause obesity and hyperglycemia. In this context, clinicians must balance the benefits and risks of different antipsychotic medications and consider the individual's specific needs and preferences. Here, we shall discuss three cases, to ascertain how the use of amisulpride helped in glycemic control, and also reflect on probable etiologies leading to deranged glucose levels.

Embolization techniques of spontaneous direct carotid-cavernous fistulae: a single-center experience.

PURPOSE: Spontaneous direct carotid-cavernous fistula (CCF) are usually caused by a ruptured carotid cavernous aneurysm. We studied treatment of spontaneous direct CCFs in a single-center cohort of a high-volume tertiary referral center, reporting anatomical details, technical approaches of treatment, and outcomes. METHODS: Adult patients with a spontaneous direct CCF treated between 2010-2022 with follow-up MRI and/or DSA imaging available were retrospectively analyzed. We studied age, sex, clinical presentation, angiographic findings, treatment techniques, outcomes, and complications. RESULTS: Out of 80 patients with CCFs, twelve patients were treated for a non-traumatic direct CCF (15%) in 13 sessions. Median age was 65 years. Two patients had an underlying connective tissue disorder. In 10 cases, the direct CCF was caused by a ruptured cavernous carotid aneurysm. The direct CCFs were treated by endovascular transarterial embolization (10 cases), transvenous embolization (1 case), or surgery (1 case). Selective closure of the shunt was possible in 10 patients. Two patients were treated with parent vessel occlusion (PVO; one endovascular; one surgical, with bypass). Complications occurred in 2 / 12 patients (17%), with permanent morbidity in two patients (17%): trigeminal neuralgia after PVO and new infarct after surgical PVO and bypass. Selective closure of CCF resulted in no morbidity. There was no mortality in our series. CONCLUSION: Spontaneous direct CCFs are caused by rupture of a cavernous carotid aneurysm in most cases. Selective closure of the shunt, usually feasible transarterially with coils, achieves good results. Reconstructive endovascular techniques are preferred to minimize treatment related neurological complications.

Optimizing PCSK9 Inhibitor Integration for Cardiovascular Disease Management in Pakistan.

Cardiovascular illnesses (CVDs), particularly Coronary Artery Disease (CAD) and Ischemic Heart Disease (IHD), are major global health burdens, with a growing incidence in Pakistan. The development of PCSK9 inhibitors offers encouraging advantages in lowering LDL cholesterol and lowering cardiovascular risk, even though conservative treatments are still essential. However, access to them is severely hampered by their high cost, especially in environments with little resources. The financial limitations and scarcity of healthcare resources while examining the difficulties in obtaining PCSK9 inhibitors in Pakistan is essential. In order to develop solutions for affordability and fair access, it emphasizes the urgent need for multi-stakeholder collaboration, including governmental action, healthcare sector involvement, and pharmaceutical company engagement. It also emphasizes the need for data-specific research and the use of PCSK9 inhibitors in conventional treatment protocols.

Electronic Heart (ECG) Monitoring at Birth and Newborn Resuscitation.

BACKGROUND: Approximately 10% of newborns require assistance at delivery, and heart rate (HR) is the primary vital sign providers use to guide resuscitation methods. In 2016, the American Heart Association (AHA) suggested electrocardiogram in the delivery room (DR-ECG) to measure heart rate during resuscitation. This study aimed to compare the frequency of resuscitation methods used before and after implementation of the AHA recommendations. METHODS: This longitudinal retrospective cohort study compared a pre-implementation (2015) cohort with two post-implementation cohorts (2017, 2021) at our Level IV neonatal intensive care unit. RESULTS: An initial increase in chest compressions at birth associated with the introduction of DR-ECG monitoring was mitigated by focused educational interventions on effective ventilation. Implementation was accompanied by no changes in neonatal mortality. CONCLUSIONS: Investigation of neonatal outcomes during the ongoing incorporation of DR-ECG may help our understanding of human and system factors, identify ways to optimize resuscitation team performance, and assess the impact of targeted training initiatives on clinical outcomes.

Association of demographics, lumbar active range of motion and disability in chronic low back: a baseline data analysis of a randomized controlled trial from Pakistan.

BACKGROUND: The disability and significant economic costs accredited to Low back pain (LBP) are likely to rise which is an essential problem in low and middle-income countries like Pakistan. The associated factors of LBP are age, sex, and race including physical activity, high spinal load, lifting, bending, and twisting occupations. The literature highlighted there is substantial differences in associated factors of LBP within available studies in developing countries. The objective is to investigate the association of demographic factors and lumbar range of motion with disability in patients with chronic low back. METHODS: A baseline data analysis was performed as an analytical cross-sectional study among 150 patients with chronic low back in a randomized controlled trial with a duration from March 2020 and January 2021. After recording demographics, Modified-Modified Schober's test was used to measure lumbar flexion and extension and Oswestry disability index for disability. After the descriptive analysis the continuous variables, age and pain were analyzed with Spearman's correlation. Variables that were significant in bivariate analysis were then fitted in a multivariable linear regression. The Kruskal-Wallis test was used to analyze variations of disability in gender, marital status, work status, education level, and duration of pain. The p-value of 0.05 was significant. RESULTS: The results showed a significant correlation between age and pain in sitting (rh=-0.189, p = 0.021 and rh = 0.788, p < 0.001) with the disability but no significant effects of age and pain in sitting (B=-0.124, p = 0.212 and B = 1.128, p = 0.082) on disability were found. The decrease in lumbar flexion and extension was found to increase disability (B=-6.018 and - 4.032 respectively with p < 0.001). Female gender (x2(1) = 15.477, p = < 0.001) and unmarried marital status (x2(1) = 4.539, p = 0.033) had more disability than male gender and married marital status, respectively. There was a significance between groups of the duration of pain regarding disability (x2 (2) = 70.905, p < 0.001). Age, education level, and work status showed no significance (p > 0.05). CONCLUSIONS: The female gender and unmarried marital status are associated with functional disability. Decreased lumbar range of motion accompanies more disability, while age, education level, and work status do not effect on disability.

Anti-N-Methyl-D-Aspartate Receptor Encephalopathy in a Young Female.

Widely distributed in the central nervous system (CNS), N-methyl-D-aspartate receptors (NMDARs) are believed to be involved in long-term potentiation, essential in regulating and forming memory. This condition primarily occurs in young females because of autoantibodies forming against the N-methyl-D-aspartate receptor-1 (NR1) or N-methyl-D-aspartate receptor-2 (NR2) subunits of NMDAR in the CNS, ultimately portraying a unique psychoneurological phenomenon. Patients with antibodies against NMDAR present with a combination of neurological and psychiatric signs and symptoms. This article presents a case of a young female with no significant past medical, psychological, or surgical history. While being previously diagnosed with acute psychosis, upon arrival at the emergency department (ED), she also displayed an acute decline in judgment, hallucinations, severe agitation, and peculiar behavior, prompting family members to seek medical attention. Consequently, she was evaluated for metabolic and infectious encephalopathy. Following a thorough examination and extensive laboratory imaging, the patient was found to have NMDAR antibody encephalopathy. After dedicated treatment, her two-month follow-up presented a complete resolution of symptoms.

Epidemiology of Sports Injuries Among High School Athletes in the United States: Data From 2015 to 2019.

Background: Nearly 8 million high school students in the United States participate in sports each year. With the lack of recent population data, an update to previous studies on US high school athletes is needed. Purpose: To update the epidemiology of sports injuries in high school athletes in the United States. Study Design: Descriptive epidemiology study. Methods: The data from the National Health School Sports-Related Injury Surveillance Study, including 100 nationally representative high schools, were obtained for 9 high school sports (boys' football, soccer, basketball, wrestling, and baseball and girls' soccer, basketball, volleyball, and softball) between the 2015 and 2019 academic years. Injury rates were calculated as the ratio of injuries per 1000 athlete exposures (AEs), defined as 1 athlete participating in 1 practice or competition. Data on injured body area, injury type (sprains/strains, concussions, contusions, and fractures), time loss, and need for surgery were also obtained. Rate ratios (RRs) with 95% CIs and P values were calculated. Results: Athletic trainers reported 15,531 injuries during 6,778,209 AEs, with an overall rate of 2.29 injuries per 1000 AEs. Injury rates were highest in football (3.96), girls' soccer (2.65), and boys' wrestling (2.36). The overall injury rate was lower in girls' sports (1.86) compared with boys' sports (2.52) (RR, 0.74 [95% CI, 0.71-0.76]; P < .001) and was higher in competition compared with practice (RR, 3.39 [95% CI, 3.28-3.49]; P < .001). The most commonly injured body areas were the head/face (24.2%), ankle (17.6%), and knee (14.1%). Sprains/strains (36.8%) and concussions (21.6%) were the most common diagnoses. Overall, 39.2% and 34% of injuries resulted in a time loss of <1 week and 1 to 3 weeks, respectively. Surgery was required in 6.3% of injuries, with wrestling (9.6%), girls' basketball (7.6%), and boys' baseball (7.4%) being the sports with the highest proportion of injuries needing surgery. Conclusion: Study findings demonstrated that boys' football, girls' soccer, and boys' wrestling had the highest injury rates, with boys' sports overall having higher injury rates than girls' sports. Sprains/strains and concussions were the most common diagnoses. Few injuries required surgery.

Towards blockchain based federated learning in categorizing healthcare monitoring devices on artificial intelligence of medical things investigative framework.

Categorizing Artificial Intelligence of Medical Things (AIoMT) devices within the realm of standard Internet of Things (IoT) and Internet of Medical Things (IoMT) devices, particularly at the server and computational layers, poses a formidable challenge. In this paper, we present a novel methodology for categorizing AIoMT devices through the application of decentralized processing, referred to as "Federated Learning" (FL). Our approach involves deploying a system on standard IoT devices and labeled IoMT devices for training purposes and attribute extraction. Through this process, we extract and map the interconnected attributes from a global federated cum aggression server. The aim of this terminology is to extract interdependent devices via federated learning, ensuring data privacy and adherence to operational policies. Consequently, a global training dataset repository is coordinated to establish a centralized indexing and synchronization knowledge repository. The categorization process employs generic labels for devices transmitting medical data through regular communication channels. We evaluate our proposed methodology across a variety of IoT, IoMT, and AIoMT devices, demonstrating effective classification and labeling. Our technique yields a reliable categorization index for facilitating efficient access and optimization of medical devices within global servers.

Leveraging ANFIS with Adam and PSO optimizers for Parkinson's disease.

Parkinson's disease (PD) is an age-related neurodegenerative disorder characterized by motor deficits, including tremor, rigidity, bradykinesia, and postural instability. According to the World Health Organization, about 1 % of the global population has been diagnosed with PD, and this figure is expected to double by 2040. Early and accurate diagnosis of PD is critical to slowing down the progression of the disease and reducing long-term disability. Due to the complexity of the disease, it is difficult to accurately diagnose it using traditional clinical tests. Therefore, it has become necessary to develop intelligent diagnostic models that can accurately detect PD. This article introduces a novel hybrid approach for accurate prediction of PD using an ANFIS with two optimizers, namely Adam and PSO. ANFIS is a type of fuzzy logic system used for nonlinear function approximation and classification, while Adam optimizer has the ability to adaptively adjust the learning rate of each individual parameter in an ANFIS at each training step, which helps the model find a better solution more quickly. PSO is a metaheuristic approach inspired by the behavior of social animals such as birds. Combining these two methods has potential to provide improved accuracy and robustness in PD diagnosis compared to existing methods. The proposed method utilized the advantages of both optimization techniques and applied them on the developed ANFIS model to maximize its prediction accuracy. This system was developed by using an open access clinical and demographic data. The chosen parameters for the ANFIS were selected through a comparative experimental analysis to optimize the model considering the number of fuzzy membership functions, number of epochs of ANFIS, and number of particles of PSO. The performance of the two ANFIS models: ANFIS (Adam) and ANFIS (PSO) focusing at ANFIS parameters and various evaluation metrics are further analyzed in detail and presented, The experimental results showed that the proposed ANFIS (PSO) shows better results in terms of loss and precision, whereas, the ANFIS (Adam) showed the better results in terms of accuracy, f1-score and recall. Thus, this adaptive neural-fuzzy algorithm provides a promising strategy for the diagnosis of PD, and show that the proposed models show their suitability for many other practical applications.

Combined or High Dose Immunosuppression in Inflammatory Bowel Disease patients who are NUDT15 Homozygous Harbors Risk of Developing Invasive Fungal Infections: A Case Series.

NUDT15 homozygous mutations predispose patients to severe leucopenia, which invites risk of disseminated fungal infections when high doses or a combination of immunosuppressives are administered in this patient population.