Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (). Patients usually exhibit early-onset bone marrow failure with pancytopenia including megaloblastic anemia. The latter can remain isolated or patients may present developmental delay and rarely macular dysfunction.

Psychometric Properties of the Spanish Version of the Cognitive Problems and Strategies Assessment in Patients with Bipolar Disorder.

Cognitive deficits play an important role in Bipolar Disorder (BPD). The Cognitive Problems and Strategies Assessment (CPSA) is a measure that evaluates the patient's perception of cognitive difficulties, and the spontaneous use of compensatory strategies and could thus have potential utility for clinical practice in patients with BPD. Our aim was to determine the validity and reliability of the Cognitive Problems and Strategies Assessment (CPSA) in Bipolar Disorder (BPD).

Uncovering a Rare Case of Hepatic Round Ligament Epigastric Hernia.

Abdominal wall hernias are one of the most common surgical diseases present in both males and females nowadays. However, with only a few cases reported in the literature, hepatic round ligament hernias are a rare clinical manifestation. This case shows how a common symptom such as epigastric pain can be associated with this rare condition.

Cutaneous biomarkers of therapeutic efficacy in early treatment of hereditary ATTR amyloid polyneuropathy with tafamidis.

Background: ATTR (ATTRv) amyloidosis neuropathy is characterized by progressive sensorimotor and autonomic nerve degeneration secondary to amyloid deposition caused by a misfolded transthyretin protein (TTR). Small nerve fiber neuropathy is an early clinical manifestation of this disease resulting from the dysfunction of the Aδ and C small nerve fibers. Tafamidis, a selective TTR stabilizer, has proven its efficacy in the earlier stages of hATTR.

Digitally-enabled, person-centred care (PCC) in allergen immunotherapy: An ARIA-EAACI Position Paper.

In rhinitis and asthma, several mHealth apps have been developed but only a few have been validated. However, these apps have a high potential for improving person-centred care (PCC), especially in allergen immunotherapy (AIT). They can provide support in AIT initiation by selecting the appropriate patient and allergen shared decision-making.

Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring.

Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the gene. The impaired creatine uptake in the brain leads to developmental delays with intellectual disability. We hypothesized that deficient creatine uptake in CTD cerebral cells impact methylation balance leading to alterations of genes and proteins expression by epigenetic mechanism.

Correction to: VEIN STEP: A Prospective, Observational, International Study to Assess Effectiveness of Conservative Treatments in Chronic Venous Disease.

Video Abstract.

The Relationship between Pathogenesis and Possible Treatments for the MASLD-Cirrhosis Spectrum.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a term that entails a broad spectrum of conditions that vary in severity. Its development is influenced by multiple factors such as environment, microbiome, comorbidities, and genetic factors. MASLD is closely related to metabolic syndrome as it is caused by an alteration in the metabolism of fatty acids due to the accumulation of lipids because of an imbalance between its absorption and elimination in the liver.

Combining deep learning and droplet microfluidics for rapid and label-free antimicrobial susceptibility testing of colistin.

Efficient tools for rapid antibiotic susceptibility testing (AST) are crucial for appropriate use of antibiotics, especially colistin, which is now often considered a last resort therapy with extremely drug resistant Gram-negative bacteria. Here, we developed a rapid, easy and miniaturized colistin susceptibility assay based on microfluidics, which allows for culture and high-throughput analysis of bacterial samples. Specifically, a simple microfluidic platform that can easily be operated was designed to encapsulate bacteria in nanoliter droplets and perform a fast and automated bacterial growth detection in 2 h, using standardized samples.

Gluten-free pasta as an alternative in the diet of patients with celiac disease.

Celiac disease (CD) is an autoimmune disorder that produces inflammation in the gut mucosa, affecting nutrient digestion and absorption. CD affects 0.3% to 1.

[Avascular necrosis of the hip secondary to long-standing COVID].

Long COVID is a term used to describe the long-terms effects of COVID-19 infection that continue for weeks or months after the patient has recovered from COVID-19. Long COVID is defined by the persistence of symptoms beyond 12 weeks from the onset of the disease. Corticosteroids are part of the treatment in this period with good results in controlling the disease; however, it is a predisposing factor for the development of avascular necrosis.

Atraumatic Spontaneous Transvaginal Small Bowel Evisceration: A Rare Surgical Emergency.

Abdominal pain ranks as the predominant cause for emergency department consultations. Although rare, transvaginal evisceration of the small intestine necessitates immediate surgical intervention due to its potential to induce intestinal ischemia and peritonitis. Key risk factors include postmenopausal status, a history of gynecologic surgery, and heightened abdominal pressure.

MAFLD predicts cardiovascular disease risk better than MASLD.

Background And Aim: Metabolic dysfunction-associated steatotic liver disease (MASLD) has been proposed as an alternative for the validated definition of metabolic dysfunction-associated fatty liver disease (MAFLD). We compared the abilities of MAFLD and MASLD to predict the risk of atherosclerotic cardiovascular disease (ASCVD).

Methods: Six thousand and ninety six participants from the 2017 to 2020 National Health and Nutrition Examination Survey cohort who received a thorough medical health check-up were chosen for the study.

Implementation of a roadmap for the comprehensive diagnosis, follow-up, and research of childhood leukemias in vulnerable regions of Mexico: results from the PRONAII Strategy.

The main objective of the National Project for Research and Incidence of Childhood Leukemias is to reduce early mortality rates for these neoplasms in the vulnerable regions of Mexico. This project was conducted in the states of Oaxaca, Puebla, and Tlaxcala. A key strategy of the project is the implementation of an effective roadmap to ensure that leukemia patients are the target of maximum benefit of interdisciplinary collaboration between researchers, clinicians, surveyors, and laboratories.

Predictors for liver fibrosis in non-alcoholic patients with psoriatic diseases: A multicenter cross sectional-study.

Psoriasis has been related to metabolic dysfunction-associated fatty liver disease and, liver fibrosis. This study aimed to evaluate the prevalence of liver fibrosis in psoriasis and identify predictors for fibrosis. This is a cross-sectional study conducted from December 2012 to June 2016 assessing psoriasis and psoriatic arthritis patients attended at four centers in Mexico City.

Psychometric network analysis of the Patient Health Questionnaire-4 (PHQ-4) in Paraguayan general population.

Background: Depression and anxiety are two of the most prevalent and disabling mental disorders worldwide, both in the general population and in outpatient clinical settings.

Objective: This study aimed to analyze the psychometric properties of the Patient Health Questionnaire-4 (PHQ-4) based on network analysis metrics.

Methods: A total of 911 Paraguayans (23.

Underlying Mechanisms behind the Brain-Gut-Liver Axis and Metabolic-Associated Fatty Liver Disease (MAFLD): An Update.

Metabolic-associated fatty liver disease (MAFLD) includes several metabolic dysfunctions caused by dysregulation in the brain-gut-liver axis and, consequently, increases cardiovascular risks and fatty liver dysfunction. In MAFLD, type 2 diabetes mellitus, obesity, and metabolic syndrome are frequently present; these conditions are related to liver lipogenesis and systemic inflammation. This study aimed to review the connection between the brain-gut-liver axis and MAFLD.