Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.

Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA changes in COQ8B, a gene involved in the biosynthesis of coenzyme Q10.

Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity.

Oxalate is a metabolic end-product whose systemic concentrations are highly variable among individuals. Genetic (primary hyperoxaluria) and non-genetic (e.g.

Adult Colocolic Intussusception: A Rare Case of Intestinal Obstruction.

Intussusception occurs when a part of the intestine slides into its distal adjacent portion and is a surgical emergency. Adult colocolic intussusception is rare, but it is a severe condition and is usually associated with a presence of a tumoral process. We present the case of a frail male patient admitted to our emergency department with abdominal pain, prostration, and dyspnea.

Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants.

Familial Renal Glucosuria (FRG) is a co-dominantly inherited trait characterized by orthoglycaemic glucosuria. From 2003 to 2015 we have reported several cohorts validating SLC5A2 (16p11.2), encoding SGLT2 (Na+/glucose cotransporter family member 2), as the gene responsible for FRG.

"Mãos de Conforto" (Hands of Comfort): A novel non-pharmacological intervention to ease agitation in elderly persons with dementia.

Behavioral symptoms associated with dementia, such as agitation, are frequent and associated with well-known negative consequences for patients, their carers, and their environment. Pharmacological treatments for agitation using sedatives and antipsychotics are known to have several undesirable side effects and modest efficacy. Non-pharmacological alternatives are recommended as first-line options for agitation in persons with dementia with few side effects, but there is limited evidence of efficacy.

Marine fish and benthic biota before the 2019 oil spill: A baseline dataset for monitoring programs and impact assessments at Rio Grande Norte state, Northeastern Brazil.

In 2019 an oil spill spread over more than 4000 km of the Brazilian coastline. Monitoring programs that allow for the evaluation of potential impacts on communities and ecosystems and their recovery through time are needed and rely on baseline information previous to the oil spill. Here we compiled qualitative and quantitative data available from 8 studies on fish and benthic species from different habitats of Rio Grande do Norte (RN) from 2007 to 2018.

Nuclear-localized, iron-bound superoxide dismutase-2 antagonizes epithelial lineage programs to promote stemness of breast cancer cells via a histone demethylase activity.

The dichotomous behavior of superoxide dismutase-2 (SOD2) in cancer biology has long been acknowledged and more recently linked to different posttranslational forms of the enzyme. However, a distinctive activity underlying its tumor-promoting function is yet to be described. Here, we report that acetylation, one of such posttranslational modifications (PTMs), increases SOD2 affinity for iron, effectively changing the biochemical function of this enzyme from that of an antioxidant to a demethylase.

Abdominal Cocoon Syndrome: A Rare Cause of Intestinal Obstruction.

Abdominal cocoon syndrome, also known as Sclerosing Encapsulating Peritonitis, is characterized by a fibro-collagenous membrane that involves abdominal viscera and it's a rare cause of intestinal obstruction. We present here two cases. Two male patients, 29 and 75 years old, were admitted to our emergency department with abdominal pain, vomiting, tender and painful abdomen but without changes in intestinal transit or peritoneal reaction.

Cysteine as a Multifaceted Player in Kidney, the and Its Implications for Precision Medicine.

In this review encouraged by original data, we first provided in vivo evidence that the kidney, comparative to the liver or brain, is an organ particularly rich in cysteine. In the kidney, the total availability of cysteine was higher in cortex tissue than in the medulla and distributed in free reduced, free oxidized and protein-bound fractions (in descending order). Next, we provided a comprehensive integrated review on the evidence that supports the reliance on cysteine of the kidney beyond cysteine antioxidant properties, highlighting the relevance of cysteine and its renal metabolism in the control of cysteine excess in the body as a pivotal source of metabolites to kidney biomass and bioenergetics and a promoter of adaptive responses to stressors.

Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Polycystic Kidney Disease.

In autosomal dominant polycystic kidney disease (ADPKD), kidney cyst growth requires the recruitment of CFTR (cystic fibrosis transmembrane conductance regulator), the chloride channel that is defective in cystic fibrosis. We have been studying cyst inflation using the zebrafish Kupffer's vesicle (KV) as model system because we previously demonstrated that knocking down polycystin 2 (PC2) induced a CFTR-mediated enlargement of the organ. We have now quantified the PC2 knockdown by showing that it causes a 73% reduction in the number of KV cilia expressing PC2.

Celiac Disease Revisited.

Celiac disease (CD) is a systemic disease triggered by gluten ingestion in genetically predisposed individuals. It manifests primarily as an autoimmune enteropathy associated with specific circulating autoantibodies and a human leukocyte antigen haplotype (HLA-DQ2 or HLA-DQ8). It afflicts roughly 1% of the population, though the majority of patients remain undiagnosed.

Ingestion of anthropogenic materials by yellow-legged gulls (Larus michahellis) in natural, urban, and landfill sites along Portugal in relation to diet composition.

Pollution is a global concern, increasing rapidly throughout marine and terrestrial ecosystems, and affecting many species. Urbanization enhances waste production, leading to the opening of landfills that constitute a spatially and temporally predictable food source for opportunistic species. Several species of gulls are known to exploit and breed in urban areas, taking advantage of accessible and diverse food resources.

Effect of Nitrosative Stress on the -Nitroso-Proteome of .

The fungi and are the causative agents of paracoccidioidomycosis (PCM), a systemic mycosis endemic to Latin America. This fungus is considered a facultative intracellular pathogen that is able to survive and replicate inside macrophages. The survival of the fungus during infection depends on its adaptability to various conditions, such as nitrosative/oxidative stress produced by the host immune cells, particularly alveolar macrophages.

Disseminated tuberculosis associated with reactive arthritis of Poncet in an immunocompetent patient.

Cutaneous tuberculosis is a rare extrapulmonary manifestation of tuberculosis which, like disseminated tuberculosis, commonly occurs in immunocompromised patients. Poncet reactive arthritis is a seronegative arthritis affecting patients with extrapulmonary tuberculosis, which is uncommon even in endemic countries. We report a previously healthy 23-year-old male patient with watery diarrhea associated with erythematous ulcers on the lower limbs and oligoarthritis of the hands.

Effect of empagliflozin beyond glycemic control: Cardiovascular benefit in patients with type 2 diabetes and established cardiovascular disease.

The prevalence of type 2 diabetes (T2D) continues to increase, and its association with cardiovascular (CV) disease has led to the inclusion of CV endpoints in clinical trials on the treatment of T2D. This article explores the various trials already performed and under development in this field, with particular focus on the EMPA-REG OUTCOME trial. In this trial, empagliflozin, a sodium-glucose co-transporter 2 inhibitor, demonstrated a reduction in CV risk in patients with T2D and established CV disease, in addition to CV safety and a decrease in glycated hemoglobin.

Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C.

A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported. Chronic hepatitis C and presence of high levels of porphyrins in urine were demonstrated. There was complete remission with the use of hydroxychloroquine, photoprotection, and treatment of hepatitis.

An Atypical Presentation of Thrombotic Microangiopathy After Lung Transplant: A Case Report.

Thrombotic microangiopathy (TMA) is a pathologic condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ injury due to microvascular endothelial lesions and thrombosis. It occurs in a variety of diseases and, unless recognized and treated, leads to severe morbidity and mortality. We present the case of a 48-year-old woman who underwent lung transplantation, initially under tacrolimus, mycophenolate mofetil (MMF), and prednisolone.

Cross-talk between the Ras GTPase and the Hog1 survival pathways in response to nitrosative stress in Paracoccidioides brasiliensis.

Paracoccidioides brasiliensis is a temperature-dependent dimorphic fungus that cause paracoccidioidomycosis (PCM), the major systemic mycosis in Latin America. The capacity to evade the innate immune response of the host is due to P. brasiliensis ability to respond and to survive the nitrosative stress caused by phagocytic cells.

Antimicrobial resistance and molecular characteristics of Neisseria gonorrhoeae isolates from men who have sex with men.

Objectives: To analyze the susceptibility of Neisseria gonorrhoeae isolates to penicillin (Pen), cefixime (Cfm), ceftriaxone (Cro), tetracycline (Tet), ciprofloxacin (Cip), azithromycin (Azm), and spectinomycin (Spt), and to verify the presence of mutations in resistance genes.

Methods: Antibiotic susceptibility testing was performed by Etest method on 30 N. gonorrhoeae isolates collected from the MSM (men who have sex with men) population.

Synthesis of zinc oxide nanorods or nanotubes on one side of a microcantilever.

Cantilevers are really promising sensitive sensors despite their small surface. In order to increase this surface and consequently their sensitivity, we nanostructured them with zinc oxide (ZnO) nanorods or nanotubes having a diameter of approximately 100 nm and a length of 1 µm. The nanostructure growth was first optimized on a silicon wafer and then transferred to the cantilevers.

The Na -coupled glucose transporter SGLT2 interacts with its accessory unit MAP17 in vitro and their expressions overlap in the renal proximal tubule.

Na -glucose cotransporter 2 is the renal Na -coupled glucose transporter responsible for the tubular glucose reabsorption, while MAP17 was recently identified as its accessory unit. Mutations in either of the proteins' coding genes, SLC5A2 and PDZK1IP1, lead to urinary glucose excretion. To investigate whether MAP17 interacts with SGLT2 in vitro, we engineered a V5-tagged SGLT2 construct and evaluated HEK293T cells coexpressing it together with a HA tagged MAP17 construct.

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.

The renal proximal tubule reabsorbs 90% of the filtered glucose load through the Na-coupled glucose transporter SGLT2, and specific inhibitors of SGLT2 are now available to patients with diabetes to increase urinary glucose excretion. Using expression cloning, we identified an accessory protein, 17 kDa membrane-associated protein (MAP17), that increased SGLT2 activity in RNA-injected Xenopus oocytes by two orders of magnitude. Significant stimulation of SGLT2 activity also occurred in opossum kidney cells cotransfected with SGLT2 and MAP17.