Glucose-6-phosphate dehydrogenase gene Ala365Thr mutation in an Iraqi family with confusing clinical differences

Objectives Glucose-6-phosphate dehydrogenase (G6PD) has role in the Embden Meyerhof road. Any loss of its function causes NADPH to cease, leaving erythrocytes susceptible to oxidative damage resulting in acute hemolytic anemia attacks secondary to drugs or infection and favism. Because of X-linked recessive inheritance males are mainly affected. Being heterozygous, females have less severe clinical presentation. Case presentation G6PD deficiency was suspected in a six-year-old girl from an Iraqi family with a history of yellowing of skin and darkening of urine after eating broad beans. Besides the patient, G6PD levels were found low in the father and in two sisters who showed no symptoms. The father was found hemizygous and the three sisters were found heterozygous for NM_000402.4c.1093G>A(p.A365T)(6.Ala365Thr) mutation while the mother was normal. Conclusions G6PD enzyme deficiency can be seen in both genders, and it may be presented with different clinical manifestations even within the people having the same mutation.

CT perfusion in hyper-acute ischemic stroke: the acid test for COVID-19 fear

Purpose The fear of COVID-19 infection may discourage patients from going to the hospital even in case of sudden onset of disabling symptoms. There is growing evidence of the reduction of stroke admissions and higher prevalence of severe clinical presentation. Yet, no studies have investigated the perfusion pattern of acute strokes admitted during the lockdown. We aimed to evaluate the effects of the COVID-19 pandemic on hyper-acute stroke CT perfusion (CTP) pattern during the first months of the pandemic in Italy. Methods In this retrospective observational study, we analyzed CTP images and clinical data of ischemic stroke patients admitted between 9 March and 2 June 2020 that underwent CTP (n = 30), to compare ischemic volumes and clinical features with stroke patients admitted during the same period in 2019 (n = 51). In particular, CTP images were processed to calculate total hypoperfused volumes, core volumes, and mismatch. The final infarct volumes were calculated on follow-up CT. Results Significantly higher total CTP hypoperfused volume (83.3 vs 18.5 ml, p = 0.003), core volume (27.8 vs 1.0 ml, p < 0.001), and unfavorable mismatch (0.51 vs 0.91, p < 0.001) were found during the COVID-19 period compared to no-COVID-19 one. The more unfavorable perfusion pattern at admission resulted in higher infarct volume on follow-up CT during COVID-19 (35.5 vs 3.0 ml, p < 0.001). During lockdown, a reduction of stroke admissions (− 37%) and a higher prevalence of severe clinical presentation (NIHSS ≥ 10; 53% vs 36%, p = 0.029) were observed. Conclusion The results of CTP analysis provided a better insight in the higher prevalence of major severity stroke patients during the COVID-19 period.

Unrecognized tuberculosis in a patient with COVID-19

Introduction. COVID-19 is responsible for the current global pandemic. Globally, over 15 million people are currently infected, and just over 600,000 have died due to being infected. It is known that people with chronic illnesses and compromised immune systems can develop more severe clinical presentation. Tuberculosis is still one of the biggest epidemiological problems worldwide. Both of these diseases can be misdiagnosed and can manifest in a similar way. We will present a case study of a patient who was initially treated as a COVID-19 infection, with Tuberculosis being diagnosed later on. The recovery began only after being treated for both diseases simultaneously. Case report. The patient is a 27-year-old male, non-smoker, with no history of any significant diseases. He presented with fever, fatigue and hemoptysis. Computed tomography pulmoangiography had shown massive consolidations and excavations, which could be caused by COVID-19. Despite being treated for COVID-19, there was no clinical improvement. On the follow-up chest X-radiograohy, beside signs of COVID-19, there were also changes that could indicate Tuberculosis. Tuberculosis was detected in sputum, using PCR and Mycobacteria Growth Indicator Tube, and only after being treated for both diseases did his condition improve. Conclusion. There are a few reported cases of COVID-19 and Tuberculosis coinfections, and we believe that there are many more patients with this coinfection being unrecognized.

Neuroparacoccidioidomycosis: A 13-Year Cohort Study, Rio de Janeiro, Brazil

Neuroparacoccidioidomycosis (NPCM) is a rare and severe clinical presentation of paracoccidioidomycosis (PCM). We performed a retrospective cohort study at the Evandro Chagas National Institute of Infectious Diseases (INI/Fiocruz), a reference center for PCM in the state of Rio de Janeiro, Brazil. All cases of PCM admitted to the INI/Fiocruz from January 2007 to December 2019 were reviewed. Eight (3.9%) among 207 patients met the diagnostic criteria for NPCM. The mean age was 44.6 years and the male:female ratio was 7:1. All cases presented multifocal disease, 5 (62.5%) the chronic form and 3 (37.5%) the acute/subacute form. All patients presented the pseudotumoral pattern and 6 (75.0%) had multiple lesions in the cerebral hemispheres. Seizures and motor symptoms were the most frequent clinical manifestations (50.0%, each). The treatment of choice was sulfamethoxazole/trimethoprim (SMZ-TMP) and fluconazole, in association (87.5%). Most patients responded well to the treatment. Sequela and death occurred in one (12.5%) patient, each.

Neuroprognostication of Consciousness Recovery in a Patient with COVID-19 Related Encephalitis: Preliminary Findings from a Multimodal Approach

Predicting the functional recovery of patients with severe neurological condition due to coronavirus disease 2019 (COVID-19) is a challenging task. Only limited outcome data are available, the pathophysiology is poorly understood, and the time-course of recovery is still largely unknown. Here, we report the case of a patient with COVID-19 associated encephalitis presenting as a prolonged state of unresponsiveness for two months, who finally fully recovered consciousness, functional communication, and autonomy after immunotherapy. In a multimodal approach, a high-density resting state EEG revealed a rich brain activity in spite of a severe clinical presentation. Using our previously validated algorithms, we could predict a possible improvement of consciousness in this patient. This case report illustrates the value of a multimodal approach capitalizing on advanced brain-imaging and bedside electrophysiology techniques to improve prognosis accuracy in this complex and new aetiology.

Duration of COVID-19: Data from an Italian Cohort and Potential Role for Steroids

The diffusion of SARS-CoV-2, starting from China in December 2019, has led to a pandemic, reaching Italy in February 2020. Previous studies in Asia have shown that the median duration of SARS-CoV-2 viral shedding was approximately 12–20 days. We considered a cohort of patients recovered from COVID-19 showing that the median disease duration between onset and end of COVID-19 symptoms was 27.5 days (interquartile range (IQR): 17.0–33.2) and that the median duration between onset of symptoms and microbiological healing, defined by two consecutive negative nasopharyngeal swabs, was 38 days (IQR: 31.7–50.2). A longer duration of COVID-19 with delayed clinical healing (symptom-free) occurred in patients presenting at admission a lower PaO2/FiO2 ratio (p < 0.001), a more severe clinical presentation (p = 0.001) and a lower lymphocyte count (p = 0.035). Moreover, patients presenting at admission a lower PaO2/FiO2 ratio and more severe disease showed longer viral shedding (p = 0.031 and p = 0.032, respectively). In addition, patients treated with corticosteroids had delayed clinical healing (p = 0.013).

Performance assessment of 11 commercial serological tests for SARS-CoV-2 on hospitalized COVID-19 patients

Commercial availability of serological tests to evaluate immunoglobulins (Ig) towards severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has grown exponentially since the onset of COVID-19 outbreak. Their thorough validation is of extreme importance before using them as epidemiological tools to infer population seroprevalence, and as complementary diagnostic tools to molecular approaches (e.g. RT-qPCR). Here we assayed commercial serological tests (semiquantitative and qualitative) from 11 suppliers in 126 samples collected from hospitalized COVID-19 patients, and from 36 healthy and HIV-infected individuals (collected at the pre-COVID-19 pandemic). Specificity was above 95% in 9 tests. Samples from COVID-19 patients were stratified by days since symptoms onset (<10, 10-15, 16-21 and >21 days). Tests sensitivity increases with time since symptoms onset, and peaks at 16-21 days for IgM and IgA (maximum: 91.2%); and from 16-21 to >21 days for IgG, depending on the test (maximum: 94.1%). Data from semiquantitative tests show that patients with severe clinical presentation have lower relative levels of IgM, IgA and IgG at <10 days since symptoms onset in comparison to patients with non-severe presentation. At >21 days since symptoms onset the relative levels of IgM and IgG (in one test) are significantly higher in patients with severe clinical presentation, suggesting a delay in the upsurge of Ig against SARS-CoV-2 in those patients. This study highlights the high specificity of most of the evaluated tests, and sensitivity heterogeneity. Considering the virus genetic evolution and population immune response to it, continuous monitoring of commercially available serological tests towards SARS-CoV-2 is necessary.

The relation between ACEI/ARB use and COVID-19 severity in RT-PCR–confirmed cases: A retrospective case-control study

One hypothesis suggests that patients undergoing Angiotensin Converting Enzyme inhibitor (ACEI) or Angitensin Receptor Blocker (ARB) treatment might be at greater risk for severe COVID-19 disease. This retrospective study aims to elucidate whether patients with reverse transcription-polymerase chain reaction (RT-PCR)–confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection undergoing ACEI or ARB treatment present with a more severe clinical presentation or more severe lung injury than other patients, as evaluated by CT thorax scans. Comorbidities related to ACEI or ARB use, including arterial hypertension (AHT), heart disease (HD), and diabetes mellitus (DM), were found to be more frequent (p < 0.05 ) in the ACEI or ARB users’ group. The odds ratio of ACEI or ARB users for having a more severe clinical presentation was 1.12 (95% [CI] 0.59–2.13, p = 0.741). For having a severe CT severity score (with a cut-off of 12.5 on a total score of 25), the odds ratio was 1.46 (95% [CI] 0.73–2.94, p = 0.287). Furthermore, the odds ratio of the mortality outcome was 1.1 (95% [CI] 0.49–2.48, p = 0.824). Although the group of ACEI or ARB users had more comorbidities, we found no significant association between CT severity, clinical severity, or mortality and the use of these drugs. These findings bolster the argument against ACEI or ARB withdrawal in COVID-19 patients.

Identification of Serogroups Australis and Icterohaemorrhagiae in Two Dogs with a Severe Form of Acute Leptospirosis in Italy

Leptospirosis is an infectious disease that causes serious illness in dogs. For this reason, epidemiological and clinical studies focusing on disease characterization are widely advocated. The aim of this study was to characterize the leptospires identified in dogs with confirmed symptomatic acute leptospirosis. Leptospira spp. DNA detected in urine, blood, or both samples from nine infected dogs was analyzed using the multi-locus sequence typing (MLST) technique. Leptospires from two dogs were successfully typed: one was identified as belonging to Sequence Type (ST) 17 and one to ST198, both within the L. interrogans species, serogroups Icterohaemorrhagiae and Australis, respectively. Based on the results of routine serologic tests, antibodies reactive toward these serogroups are commonly revealed in dogs in Italy. This study provides the first molecular analysis that identifies infecting Leptospira directly on DNA from biological samples of dogs, showing that serogroup Australis can lead to a severe clinical presentation of leptospirosis in infected dogs.