norrie's disease

Serial blood and mucosal samples were characterized for 102 participants enrolled a median of 7.0 days post-COVID-19 diagnosis. Mucosal RNA was detectable a median 31.5 (95% CI 20.5 - 63.5) days, with persistence ≥1 month associated with obesity (BMI ≥30, OR 3.9, 95% CI 1.2 - 13.8) but not age, sex, or chronic conditions. Fifteen participants had likely reinfection; lower serum anti-S IgG levels were associated with reinfection risk. Nearly half of participants (47%) reported symptoms lasting ≥2-3 months; persistence ≥3 months was associated with BMI ≥30 (OR = 4...

Immune checkpoint inhibitors (ICIs) are now the first-line treatment for patients with advanced melanoma. Despite promising clinical results, many patients fail to respond to these therapies. BH3 mimetics, a novel class of small molecule inhibitors that bind and inhibit anti-apoptotic members of the BCL2 family proteins such as BCL2 or MCL1, have been very successful in treating hematologic malignancies. However, there are limited studies on the immunomodulatory role of the BH3 mimetics. Several factors contribute to ICI resistance including myeloid-derived suppressor cells (MDSCs) that exert immunosuppressive effects through direct and indirect inhibition of antitumor immunity...

To the Editor, Pelvi-ureteric junction obstruction (PUJO) is a well-recognised clinical entity characterised by functionally significant impairment of drainage of urine at the level of the pelvi-ureteric junction due to extrinsic or intrinsic obstruction and is encountered both by adult and paediatric urologists alike. Management of PUJO has been surgical historically, and the gold standard has been an open Anderson-Hynes dismembered pyeloplasty. [...].

BACKGROUND: A patient-centered, human-rights based approach to maternal care moves past merely reducing maternal mortality and morbidity, towards achieving a positive pregnancy experience. When evaluating an intervention, particularly in the context of the complex challenges facing maternal care in South Africa, it is therefore important to understand how intervention components are experienced by women. We aimed to qualitatively explore (i) factors influencing the pregnancy and postpartum experience amongst young women in Soweto, South Africa, and (ii) the influence of Bukhali, a preconception, pregnancy, and early childhood intervention delivered by community health workers (CHWs), on these experiences...

Animal migration has fascinated scientists and the public alike for centuries, yet migratory animals are facing diverse threats that could lead to their demise. The Anthropocene is characterised by the reality that humans are the dominant force on Earth, having manifold negative effects on biodiversity and ecosystem function. Considerable research focus has been given to assessing anthropogenic impacts on the numerical abundance of species/populations, whereas relatively less attention has been devoted to animal migration...

OBJECTIVES: To investigate immune dysregulation in the peripheral blood that contributes to the pre-rheumatoid arthritis (RA) stage of RA development in anti-citrullinated protein antibody (ACPA)+ individuals. METHODS: Using 37 markers by mass cytometry, we investigated peripheral blood mononuclear cells (PBMCs) from ACPA+ at-risk individuals (ARI), ACPA+ early untreated RA patients, and ACPA- controls in the Tokyo Women's Medical University (TWMU) cohort (n = 17 in each group)...

Neurological disorders such as Parkinsonism cause serious socio-economic problems as there are, at present, only therapies that treat their symptoms. The well-established hallmark alpha-synuclein (SYN) is enriched in the inclusion bodies characteristic of Parkinsonism. We discovered a prominent partner of SYN, termed Tubulin Polymerization Promoting Protein (TPPP), which has important physiological and pathological activities such as the regulation of the microtubule network and the promotion of SYN aggregation...

Type IV P-type ATPases (P4-ATPases) are a family of transmembrane enzymes that translocate lipid substrates from the outer to the inner leaflet of biological membranes and thus create an asymmetrical distribution of lipids within membranes. On the cellular level, this asymmetry is essential for maintaining the integrity and functionality of biological membranes, creating platforms for signaling events and facilitating vesicle trafficking. On the organismal level, this asymmetry has been shown to be important in maintaining blood homeostasis, liver metabolism, neural development, and the immune response...

INTRODUCTION: Prior research on the effects of social media promotion of tobacco products has predominantly relied on survey-based self-report measures of marketing exposure, which potentially introduce endogeneity, recall, and selection biases. New approaches can enhance measurement and help better understand the effects of exposure to tobacco-related messages in a dynamic social media marketing environment. We used geolocation-specific tweet rate as an exogenous indicator of exposure to smokeless tobacco (ST)-related content and employed this measure to examine the influence of social media marketing on ST sales...

We investigate how matrix stiffness regulates chromatin reorganization and cell reprogramming and find that matrix stiffness acts as a biphasic regulator of epigenetic state and fibroblast-to-neuron conversion efficiency, maximized at an intermediate stiffness of 20 kPa. ATAC sequencing analysis shows the same trend of chromatin accessibility to neuronal genes at these stiffness levels. Concurrently, we observe peak levels of histone acetylation and histone acetyltransferase (HAT) activity in the nucleus on 20 kPa matrices, and inhibiting HAT activity abolishes matrix stiffness effects...

Acute leukemia continues to be a major cause of death from disease worldwide and current chemotherapeutic agents are associated with significant morbidity in survivors. While better and safer treatments for acute leukemia are urgently needed, standard drug development pipelines are lengthy and drug repurposing therefore provides a promising approach. Our previous evaluation of FDA-approved drugs for their antileukemic activity identified disulfiram, used for the treatment of alcoholism, as a candidate hit compound...

BACKGROUND: Chronic rhinosinusitis (CRS) is common in people with cystic fibrosis (PwCF). Rhinologic symptom prioritization and areas that influence CRS treatment choices, including pursuing endoscopic sinus surgery (ESS), remain understudied. METHODS: Adult PwCF + CRS were enrolled at eight centers into a prospective, observational study (2019-2023). Participants were administered the 22-SinoNasal Outcome Test (SNOT-22) survey and a modified SNOT-22 instrument examining symptom importance...

BACKGROUND: Priming is a psychological phenomenon where subconscious cues in the environment impact our behavioral responses in certain situations. Well studied in the worlds of business, marketing, and even politics, it is unclear how the priming phenomenon impacts patient perception of their own disease state nor how they report that perception using tools like the Sinonasal Outcomes Test (SNOT-22), used to measure that perception in chronic rhinosinusitis. OBJECTIVE: To determine the impact of positive or negative priming on self-reported patient perception of their chronic rhinosinusitis disease using the SNOT-22 disease-specific quality of life instrument...

Fc gamma receptor (FcγR) IIIA is an important receptor for IgG and is involved in immune defense mechanisms as well as tissue destruction in some autoimmune diseases including immune thrombocytopenia (ITP). FcγRIIIA on macrophages can trigger phagocytosis of IgG-sensitized platelets and prior pilot studies observed blockade of FcγRIIIA increased platelet counts in ITP patients. Unfortunately, while blockade of FcγRIIIA in ITP patients increased platelet counts, its engagement by the blocking antibody drove serious adverse inflammatory reactions...

Moyamoya disease is a cerebrovascular disease characterized by stenosis of large intracranial arteries and the development of smaller collateral vessels. Moyamoya may cause strokes and stroke-like symptoms in young patients. It has also been linked to autoimmune diseases and neuropsychiatric conditions. We present a case of moyamoya disease in a young patient with concomitant hyperaldosteronism, uncontrolled hypertension, and cocaine use disorder, along with features of antisocial personality disorder. This is a unique presentation of an underlying neurological disease causing psychiatric features exacerbated by cocaine use, and it describes a rare clinical presentation that physicians should consider in patients with moyamoya disease...

No abstract text is available yet for this article.

BACKGROUND: Prostate-specific antigen (PSA), a biomarker of vaginal semen exposure, is less susceptible to bias than self-reported condom use behaviors. We examined the agreement of self-reported recent condomless sex (RCS) within couples and how these reports related to PSA detection. METHODS: We analyzed data from a study conducted in Vietnam, 2017-2020, of 500 different-sex couples using condoms, and no other contraceptive method, to prevent pregnancy for six months...

No abstract text is available yet for this article.

Proteinaceous brain inclusions, neuroinflammation, and vascular dysfunction are common pathologies in Alzheimer's disease (AD). Vascular deficits include a compromised blood-brain barrier, which can lead to extravasation of blood proteins like fibrinogen into the brain. Fibrinogen's interaction with the amyloid-beta (Aβ) peptide is known to worsen thrombotic and cerebrovascular pathways in AD. Lecanemab, an FDA-approved antibody therapy for AD, shows promising results in facilitating reduction of Aβ from the brain and slowing cognitive decline...

Feline infectious peritonitis (FIP) is a potentially fatal coronavirus-driven disease of cats. Treatment with nucleoside analogue GS-441524 and or prodrug remdesivir (RDV) have produced remission in both experimentally induced and naturally occurring FIP, yet information regarding metabolism of RDV into GS-441524 in cats is scarce. This study assessed possible phase I metabolism of RDV in cats, utilising an in vitro  feline microsome model with in vitro t1/2 and  in vitro  Clint  calculated using the substrate depletion method...