Pharmacologic management of patients with hepatic and pancreatic diseases that involve immunosuppressive therapies. Position statement within the framework of the SARS-CoV-2 (COVID-19) pandemic. / Manejo farmacológico de pacientes con enfermedades hepáticas y pancreáticas que involucran terapias inmunosupresoras. Posicionamiento en el marco de la pandemia de SARS-CoV-2 (COVID-19).

The coronavirus disease 2019 (COVID-19) is caused by the severe acute respiratory syndrome coronavirus2 (SARS-CoV-2) virus. COVID-19 affected more than 6million persons worldwide in fewer than 4 months, after the report of the first cases in China in December 2019. The relation of the disease caused by SARS-Cov-2 to immunosuppressive treatment used in different gastrointestinal disorders is uncertain, resulting in debate with regard to suspending immunosuppressive therapy to improve infection outcome. Said suspension implies the inherent risk for graft rejection or autoimmune disease exacerbation that can potentially worsen the course of the infection. Based on the presently available evidence, a treatment stance has been established for patients with gastrointestinal diseases that require immunosuppressive therapy.

Pathophysiology of hepatic encephalopathy and future treatment options. / Fisiopatología y opciones de tratamiento a futuro en la encefalopatía hepática.

Understanding of the pathophysiology of hepatic encephalopathy has conditioned new treatment options. Ammonia detoxification in hepatic encephalopathy is regulated by two enzymes: glutaminase or glutamine synthetase. The first produces ammonia and the second detoxifies the ammonia, which is why treatments are aimed at glutaminase inhibition or glutamine synthetase activation. At present, we know that both enzymes are found not only in the liver, but also in the muscle, intestine, kidney, and brain. Therefore, current treatments can be directed at each enzyme at different sites. Awareness of those potential treatment sites makes different options of approach possible in the patient with hepatic encephalopathy, and each approach should be personalized.

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

Ataxia telangiectasia (A-T) is an autosomal recessive disorder with a broad range of clinical manifestations and a frequency of 1:40,000-100,000 live births. Epidemiological studies have suggested that A-T heterozygotes are at an elevated risk of breast cancer. ATM mutations occur worldwide over the entire ATM gene, making it difficult to identify heterozygotes in large populations. However, some founder-effect mutations are specific for certain populations. Here, we present four mutations in Costa Rican A-T patients that accounted for 86-93% of 41 patients studied in two batches. We have developed assays for rapid detection of these four mutations which can be used diagnostically. They will also enable the Costa Rican population to be used as a model for analyzing the role of ATM heterozygosity in cancer development and other disorders.

[Renal hypertrophy studied by techniques of nuclear medicine in post-nephrectomy patients]. / Estudio de la hipertrofia renal compensadora con técnicas de medicina nuclear en pacientes sometidos a nefrectomía.

Study of group of 61 patients, nephrectomized as a result of various diseases and who before and three months after surgery underwent blood pressure, effective renal plasma flow (EPFF) and unilateral renal function determinations in order to verify the compensating ability of the remaining kidney. Effective renal plasma flow was determined by a single injection and removal of six serial blood samples with 125-I-Hippuran. Unilateral renal function was determined from the relative uptake of 99mTc-DMSA 24 hours after injection. The patients were divided into four groups according to their overall and unilateral renal function as well as the presence or absence of hypertension. Patients with normal EPFF and symmetrical renal function showed a significantly increase in the function of the remaining kidney after surgery (p < 0.001). Patients with normal or slightly reduced EPFF (< 10%) and highly asymmetrical unilateral function as well as those with decreased EPFF (> 10%) and symmetrical or asymmetrical unilateral renal function did not increased the function of the remaining kidney after nephrectomy, and hypertensive patients whose blood pressure returned to normal values after nephrectomy had a decreased function of the remaining kidney after surgery (< 0.001). It is concluded that it is possible to predict the functional behaviour of the remaining kidney after nephrectomy, and that the compensating ability will basically depend on the previously existing (overall and unilateral) renal function as well as the presence or absence of hypertension.