Psychosis and the self: How spontaneous discussions of subjective experiences compare in the clinical high-risk and first-episode psychosis populations.

Objective: Prior qualitative studies show that individuals with psychoticlike experiences express difficulties concerning their identity. However, previous work has studied individuals at clinical high risk for psychosis (CHR) and individuals with first-episode psychosis (FEP) separately. Here, we compare the experiences of individuals at CHR, individuals with FEP, and healthy individuals.

Self-reported awareness of genetic testing, the impact of family history, and access to clinical trials for people diagnosed with ovarian cancer in Australia.

Objectives: To assess the understanding of people diagnosed with ovarian cancer regarding genetic testing; to understand knowledge gaps among people diagnosed with ovarian cancer that may impact best practice care; and to monitor overall changes in understanding from 2015 to 2022.

Design: Longitudinal 'opt-in' study using an online survey tool at three timepoints: 2015, 2018 and 2022.

Participants: People in Australia (or their families / caregivers) diagnosed with ovarian cancer between 2010 and 2022).

Meralgia Paresthetica: A Report of a Rare Case.

Meralgia paresthetica (MP) is a painful condition caused by damage or constriction of the lateral femoral cutaneous nerve (LFCN). This entrapment condition typically arises due to various factors, including trauma, pelvic tumors, external compression from belts or snug attire, and weight gain. The prognosis is generally favorable since most cases are self-limiting or respond to conservative treatment.

A new class of 7-deazaguanine agents targeting autoimmune diseases: dramatic reduction of synovial fibroblast IL-6 production from human rheumatoid arthritis patients and improved performance against murine experimental autoimmune encephalomyelitis.

A simple assay involving the measurement of IL-6 production in human synovial fibroblasts from rheumatoid arthritis patients has been utilised to select candidates from a targeted library of queuine tRNA ribosyltransferase (QTRT) substrates for subsequent screening in murine experimental autoimmune encephalomyelitis (EAE - a model of multiple sclerosis). The activity assay discriminated between poor and excellent 7-deazaguanine QTRT substrates and allowed the identification of several structures which subsequently outperformed the previous lead in EAE. Two molecules were of significant promise: one rigidified analogue of the lead, and another considerably simpler structure incorporating an oxime motif which differs structurally from the lead to a considerable extent.

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.

From benign to malignant: unveiling invasive squamous cell carcinoma following resection of perianal condyloma acuminatum: a case report.

This case illustrates the surgical management of a perianal mass, initially misdiagnosed as condyloma acuminatum in a male patient in his late 50s, later identified as invasive squamous cell carcinoma following excision. Despite extensive preoperative evaluation, the lesion's malignancy was confirmed through histopathology. The significant, fungating mass required a multidisciplinary approach, culminating in a pT3 staging and additional wide excision with inferior gluteal artery perforator flap reconstruction.

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.

Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may not be the prominent presenting feature of these conditions, management of these issues is important for optimal outcomes in people with IMDs. Some disorders that are included in the nosology of inherited metabolic disorders, such as inherited disorders of red cell energy metabolism, have purely hematological features, and have typically been cared for by a hematologist.

Therapeutic plasma exchange in paediatric nephrology in Ireland.

Background: Therapeutic plasma exchange (TPE) is utilised in the management of a limited number of paediatric renal conditions. Despite its widespread acceptance and advancements in the practice of apheresis, there remains a paucity of data pertaining to paediatrics. We present a large retrospective review of our cohort of paediatric patients undergoing TPE for renal indications, outlining their outcomes and complications.

ChatGPT and Bard exhibit spontaneous citation fabrication during psychiatry literature search.

ChatGPT (Generative Pre-Trained Transformer) is a large language model (LLM), which comprises a neural network that has learned information and patterns of language use from large amounts of text on the internet. ChatGPT, introduced by OpenAI, responds to human queries in a conversational manner. Here, we aimed to assess whether ChatGPT could reliably produce accurate references to supplement the literature search process.

Differential Expression of Anomalous Self-Experiences in Spontaneous Speech in Clinical High-Risk and Early-Course Psychosis Quantified by Natural Language Processing.

Background: Basic self-disturbance, or anomalous self-experiences (ASEs), is a core feature of the schizophrenia spectrum. We propose a novel method of natural language processing to quantify ASEs in spoken language by direct comparison to an inventory of self-disturbance, the Inventory of Psychotic-Like Anomalous Self-Experiences (IPASE). We hypothesized that there would be increased similarity in open-ended speech to the IPASE items in individuals with early-course psychosis (PSY) compared with healthy individuals, with clinical high-risk (CHR) individuals intermediate in similarity.

Carcinoma of unknown primary (CUP): an update for histopathologists.

Carcinoma of unknown primary (CUP) is a heterogeneous group of metastatic cancers in which the site of origin is not identifiable. These carcinomas have a poor outcome due to their late presentation with metastatic disease, difficulty in identifying the origin and delay in treatment. The aim of the pathologist is to broadly classify and subtype the cancer and, where possible, to confirm the likely primary site as this information best predicts patient outcome and guides treatment.

Queuine Analogues Incorporating the 7-Aminomethyl-7-deazaguanine Core: Structure-Activity Relationships in the Treatment of Experimental Autoimmune Encephalomyelitis.

A library of queuine analogues targeting the modification of tRNA isoacceptors for Asp, Asn, His and Tyr catalysed by queuine tRNA ribosyltransferase (QTRT, also known as TGT) was evaluated in the treatment of a chronic multiple sclerosis model: murine experimental autoimmune encephalomyelitis. Several active 7-deazaguanines emerged, together with a structure-activity relationship involving the necessity for a flexible alkyl chain of fixed length.

Elevated LDL-C, high blood pressure, and low peak O associate with platelet mitochondria function in children-The Arkansas Active Kids Study.

To evaluate the association of platelet (PL) mitochondria respiration with markers of cardiovascular health in children ages 7-10 years. PL mitochondrial respiration (n = 91) was assessed by high resolution respirometry (HRR): Routine (R) respiration, complex (C) I linked respiration (CI), and maximal uncoupled electron transport capacity of CII (CII) were measured. The respiratory control ratio (RCR) was calculated as the ratio of maximal oxidative phosphorylation capacity of CI and CI leak respiration (P/L).

Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder.

Background: Atypical auditory cortical processing is consistently found in scalp electrophysiological and magnetoencephalographic studies of Autism Spectrum Disorder (ASD), and may provide a marker of neuropathological brain development. However, the relationship between atypical cortical processing of auditory information and adaptive behavior in ASD is not yet well understood.

Methods: We sought to test the hypothesis that early (100-175 ms) auditory processing in ASD is related to everyday adaptive behavior through the examination of auditory event-related potentials (AEPs) in response to simple tones and Vineland Adaptive Behavior Scales in a large cohort of children with ASD (N = 84), aged 6-17, and in age- and IQ- matched neurotypically (NT) developing controls (N = 132).

Essential anatomy for core clerkships: A clinical perspective.

Clerkships are defining experiences for medical students in which students integrate basic science knowledge with clinical information as they gain experience in diagnosing and treating patients in a variety of clinical settings. Among the basic sciences, there is broad agreement that anatomy is foundational for medical practice. Unfortunately, there are longstanding concerns that student knowledge of anatomy is below the expectations of clerkship directors and clinical faculty.

The SPEAK study rationale and design: A linguistic corpus-based approach to understanding thought disorder.

Aim: Psychotic symptoms are typically measured using clinical ratings, but more objective and sensitive metrics are needed. Hence, we will assess thought disorder using the Research Domain Criteria (RDoC) heuristic for language production, and its recommended paradigm of "linguistic corpus-based analyses of language output". Positive thought disorder (e.

Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Advances in genomic diagnostics hold promise for improved care of rare hematologic diseases. Here, we describe a novel targeted therapeutic approach for Ghosal hematodiaphyseal dysplasia, an autosomal recessive disease characterized by severe normocytic anemia and bone abnormalities due to loss-of-function mutations in thromboxane A synthase 1 (TBXAS1). TBXAS1 metabolizes prostaglandin H2 (PGH2), a cyclooxygenase (COX) product of arachidonic acid, into thromboxane A2.

Fontaine progeroid syndrome-A case report.

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

An ion mobility mass spectrometer coupled with a cryogenic ion trap for recording electronic spectra of charged, isomer-selected clusters.

Infrared and electronic spectra are indispensable for understanding the structural and energetic properties of charged molecules and clusters in the gas phase. However, the presence of isomers can potentially complicate the interpretation of spectra, even if the target molecules or clusters are mass-selected beforehand. Here, we describe an instrument for spectroscopically characterizing charged molecular clusters that have been selected according to both their isomeric form and their mass-to-charge ratio.

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.

While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombocytopenia. Only a few XLN families have been reported so far, and their platelet phenotype was not described in detail. To date, no renal involvement was described in XLN.

Breastfeeding duration modifies the association between maternal weight status and offspring dietary palmitate oxidation.

Background: Offspring of obese rodents develop a metabolic phenotype that favors fat deposition. Data regarding the impact of maternal obesity programing of offspring fuel usage in humans is scarce.

Objective: The objective of this study was to explore the association between maternal weight status and dietary palmitate oxidation (DPO) in 2-y-old offspring, taking into consideration potential confounders and modifiers.

Electronic spectra of positively charged carbon clusters-C (n = 6-14).

Electronic spectra are measured for mass-selected C (n = 6-14) clusters over the visible and near-infrared spectral range through resonance enhanced photodissociation of clusters tagged with N molecules in a cryogenic ion trap. The carbon cluster cations are generated through laser ablation of a graphite disk and can be selected according to their collision cross section with He buffer gas and their mass prior to being trapped and spectroscopically probed. The data suggest that the C (n = 6-14) clusters have monocyclic structures with bicyclic structures becoming more prevalent for C and larger clusters.