The heart and lithium. Apropos of a case of lithium poisoning with intracavitary electrocardiographic exploration]

Among the secondary effects of the salts of Li+, which are widely used in psychiatric treatment, cardiac toxicity appears to be rare. The authors report the case history of a female of 24 years of age, with no previous cardiac history, who presented with Li+ intoxication and a supra-His atrio-ventricular block, followed by episodes of sinus arrest (or of sino-atrial block), accompanied by either a junctional rhythm or by periods of prolonged asystole. The results of the endocavitary electrocardiographic investigation are described. These cardiac effects are compared with the general findings reported in the literature; ECG modifications of the T wave are more common, but Li+ may cause other changes: sinus, atrial or ventricular arrhythmiás, disorders of AV conduction, and cardiomyopathies. The main modes of action which have been suggested are of interference with the other cations (K+, Na+, Ca++) in exchanges across membranes, and an effect on membrane adenyl-cyclase stimulated by catechol-amines.     

ICON: The Early Diagnosis of Congenital Immunodeficiencies

Primary immunodeficiencies are intrinsic defects in the immune system that result in a predisposition to infection and are frequently accompanied by a propensity to autoimmunity and/or immunedysregulation. Primary immunodeficiencies can be divided into innate immunodeficiencies, phagocytic deficiencies, complement deficiencies, disorders of T cells and B cells (combined immunodeficiencies), antibody deficiencies and immunodeficiencies associated with syndromes. Diseases of immune dysregulation and autoinflammatory disorder are many times also included although the immunodeficiency in these disorders are often secondary to the autoimmunity or immune dysregulation and/or secondary immunosuppression used to control these disorders. Congenital primary immunodeficiencies typically manifest early in life although delayed onset are increasingly recognized. The early diagnosis of congenital immunodeficiencies is essential for optimal management and improved outcomes. In this International Consensus (ICON) document, we provide the salient features of the most common congenital immunodeficiencies.     

Guidelines of the Spanish Society of Cardiology for clinical practice in exercise testing

Most exercise testing is performed in adults with known or suspected ischemic heart disease. In the last few years cardiac imaging techniques have been applied in this field, improving the information obtained with the procedure. However, the exceptions to this rule are emerging rapidly not only in healthy people (asymptomatic individuals, athletes, handicapped people) but also in cardiac patients (advanced congestive heart failure, hypertension, rhythm disorders, congenital heart disease, etc.). All the-se issues justify the need for a multidisciplinary consensus document in Spain.This paper reviews and updates the methodological aspects of the stress test, including those related to oxygen consumption measurements. The main aim of this review was to determine the role of exercise testing in the evaluation of ischemic heart disease as well as the applications of imaging stress testing. The usefulness of this test in other non-ischemic cardiac disorders and in selected subsets of healthy people is also reviewed.     

Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease

Inborn errors of nucleic acid metabolism often cause aberrant activation of nucleic acid sensing pathways, leading to autoimmune or autoinflammatory diseases. The SKIV2L RNA exosome is cytoplasmic RNA degradation machinery that was thought to be essential for preventing the self-RNA–mediated interferon (IFN) response. Here, we demonstrate the physiological function of SKIV2L in mammals. We found that Skiv2l deficiency in mice disrupted epidermal and T cell homeostasis in a cell-intrinsic manner independently of IFN. Skiv2l-deficient mice developed skin inflammation and hair abnormality, which were also observed in a SKIV2L-deficient patient. Epidermis-specific deletion of Skiv2l caused hyperproliferation of keratinocytes and disrupted epidermal stratification, leading to impaired skin barrier with no appreciable IFN activation. Moreover, Skiv2l-deficient T cells were chronically hyperactivated and these T cells attacked lesional skin as well as hair follicles. Mechanistically, SKIV2L loss activated the mTORC1 pathway in both keratinocytes and T cells. Both systemic and topical rapamycin treatment of Skiv2l-deficient mice ameliorated epidermal hyperplasia and skin inflammation. Together, we demonstrate that mTORC1, a classical nutrient sensor, also senses cytoplasmic RNA quality control failure and drives autoinflammatory disease. We also propose SKIV2L-associated trichohepatoenteric syndrome (THES) as a new mTORopathy for which sirolimus may be a promising therapy.     

Seasonal variation of Hepatozoon spp. (Apicomplexa, Hepatozoidae) parasitemia from Boa constrictor amarali (Serpentes, Boidae) and Hydrodynastes gigas (Serpentes, Colubridae)

The aim of this study was to evaluate the parasitemia variation of three Hepatozoon species in Brazilian snakes. This study was conducted between 2001 and 2003 and included Hepatozoon terzii from Boa constrictor amarali, and Hepatozoon migonei and Hepatozoon cyclagrasi from Hydrodynastes gigas. It was observed that the parasitemia tended to decrease in all three Hepatozoon species but the parasites were not eliminated. This data suggest that Hepatozoon infection may be similar to Toxoplasma gondii infection, in that it persists throughout host life.     

The impact of the SARS‐CoV‐2 infection,with special reference to the hematological setting

Severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) is a disease known from a few months, caused by a recently arisen virus and, consequently, it is little known. The disease has a benign course in most infected subjects (children and young adults), is often symptomatic in adults over the age of 50 and often serious and life threatening in people with comorbidities and the elderly. The few data published on coronavirus disease‐2019 (COVID‐19) in the blood‐oncology field report a serious clinical presentation, a serious course of the disease, and a high mortality rate, as has also been reported for other cancer contexts. The current strategy for treating patients with SARS‐CoV‐2 includes antivirals that are effective against other viral infections and drugs that can moderate the cytokine storm. There is no specific vaccine and consequently all possible precautions must be taken to prevent SARS‐CoV‐2 infection in the areas of oncology, oncohematology, and bone marrow transplantation. In this reviewer's article, we report the information currently available on SARS‐CoV‐2 infection to help young doctors and hematologists to successfully manage patients with COVID‐19.     

Presence of human papillomavirus and Epstein-Barr virus in the cervix of women infected with the human immunodeficiency virus

The presence of human papillomavirus (HPV) and Epstein-Barr virus (EBV) was sought in cervical scrapings from 110 human immunodeficiency virus (HIV)-infected women to evaluate the role of these viruses as risk factors for squamous intraepithelial lesions of the cervix. By using PCR, presence of HPV-DNA and EBV-DNA was found in 60.9% (67/110) and in 10% (11/110) of clinical samples, respectively. Identification of oncogenic group of HPV by hybrid capture (HC II, Murex-Digene) indicated the presence of low-risk HPV in 13 (19.4%) patients, high-risk HPV in 28 (41.8%), and both types of HPV in 26 (38.8%) patients. Squamous intraepithelial lesions were present in 59 cases, being low-grade (n = 52) and high-grade (n = 7) lesions. HPV was detected in 84.7% of patients with lesions, in association with low-grade (43/52) and high-grade lesions (7/7), and in 33% of patients without lesions. EBV-DNA was detected in 8 patients with low-grade lesions and in 3 patients without lesions. Concurrent genital HPV and EBV infection was observed in 9 cases. HPV was associated with detection of squamous intraepithelial lesions [OR = 3.55; 95% CI = (1.96; 6.48)]. No significant association was found between presence of EBV and detection of lesions, both in case of EBV infection alone [OR = 1.4; 95% CI = (0. 93; 2.12)] and in case of HPV/EBV combined infection [OR = 0.87; 95%CI = (0.54; 1.42)]. These data confirm the significant role of HPV as risk factor for squamous intraepithelial lesions and suggest that EBV could not be involved in the pathogenesis of the lesions that arise in the cervix of HIV-positive women.     

Plasma chemistry reference values in the gyr falcon (Falco rusticolus)

Blood samples were collected from 102 clinically healthy gyr falcons (Falco rusticolus) over a time period of approximately 3 years as part of routine examination procedures. Standard blood chemistry analyses were carried out to establish normal reference values for the species. Plasma chemistry analyses included alkaline phosphatase (ALP), amylase, blood urea nitrogen, bile acids, calcium, cholesterol, creatinine, creatine kinase (CK), aspartate aminotransferase (AST), alanine aminotransferase (ALT), lactate dehydrogenase (LDH), glucose, phosphate, iron, total protein, total bilirubin, and uric acid. Reference intervals were determined using a quantile approach with 90 % confidence intervals of the limits. Juveniles and adults differ in ALT, creatinine, AST, glucose, LDH, and uric acid. Sexes differ in ALP, CK, AST, and phosphorus. This study provides valuable information on the plasma biochemistry values for gyr falcons that may help in the medical management of this endangered and commonly used falconry species.