A novel frameshift mutation in ADCK1 identified in a case of chronic fatigue syndrome successfully treated with oral 5-ALA/SFC.

Chronic Fatigue Syndrome (CFS) is a complex disorder characterized by prolonged, unexplained fatigue and challenging diagnosis. We report the case of a 35-year-old Japanese woman with CFS who had experienced chronic fatigue since the age of 11 years. Despite treatment with modafinil, methylphenidate, levocarnitine, and ubiquinone, the symptoms persisted.

Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort study.

This study aims to determine the factors associated with mortality and neurodevelopmental morbidity in patients with Maple Syrup Urine Disease (MSUD) seen at a tertiary hospital in the Philippines during a 10-year period. The medical records of patients diagnosed with MSUD seen at Philippine General Hospital (PGH) from 2010 to 2019 were reviewed. Socioeconomic, healthcare, and clinical factors were determined.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Trifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.

sp. nov., isolated from a human colon tumor adheres to colonic epithelial cells and induces IL-8 secretion.

Cancerous tissue is a largely unexplored microbial niche that provides a unique environment for the colonization and growth of specific bacterial communities, and with it, the opportunity to identify novel bacterial species. Here, we report distinct features of a novel species, sp. nov.

The potential of Generative Pre-trained Transformer 4 (GPT-4) to analyse medical notes in three different languages: a retrospective model-evaluation study.

Background: Patient notes contain substantial information but are difficult for computers to analyse due to their unstructured format. Large-language models (LLMs), such as Generative Pre-trained Transformer 4 (GPT-4), have changed our ability to process text, but we do not know how effectively they handle medical notes. We aimed to assess the ability of GPT-4 to answer predefined questions after reading medical notes in three different languages.

Lost and found: dynamics of relationship and employment status over time in people with affective and psychotic spectrum disorders.

Background: Employment and relationship are crucial for social integration. However, individuals with major psychiatric disorders often face challenges in these domains.

Aims: We investigated employment and relationship status changes among patients across the affective and psychotic spectrum - in comparison with healthy controls, examining whether diagnostic groups or functional levels influence these transitions.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.

Myeloperoxidase and Thyrotropin-Releasing Hormone Within Leukaemia Stem Cells Increased Chemosensitivity in Acute Myeloid Leukaemia.

Leukaemia stem cells (LSCs) are major contributors to chemoresistance in acute myeloid leukaemia (AML). Identifying potential biomarkers within LSCs that can predict chemosensitivity in AML is key. This prospective study involved 20 consecutive de novo AML patients who underwent '7 + 3' induction therapy.

Unraveling the impact of SARS-CoV-2 mutations on immunity: insights from innate immune recognition to antibody and T cell responses.

Throughout the COVID-19 pandemic, the emergence of new viral variants has challenged public health efforts, often evading antibody responses generated by infections and vaccinations. This immune escape has led to waves of breakthrough infections, raising questions about the efficacy and durability of immune protection. Here we focus on the impact of SARS-CoV-2 Delta and Omicron spike mutations on ACE-2 receptor binding, protein stability, and immune response evasion.

Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts.

Background: Post-traumatic stress disorder (PTSD) and depression are common after mild traumatic brain injury (mTBI), but their biological drivers are uncertain. We therefore explored whether polygenic risk scores (PRS) derived for PTSD and major depressive disorder (MDD) are associated with the development of cognate TBI-related phenotypes.

Methods: Meta-analyses were conducted using data from two multicenter, prospective observational cohort studies of patients with mTBI: the CENTER-TBI study (ClinicalTrials.

Case report: Discovery of tuberculosis caused by in free-ranging vervet monkeys in the Greater Kruger Conservation Area.

Animal tuberculosis (TB) has been reported in several wildlife species in the Greater Kruger Conservation Area (GKCA), South Africa. This report describes the discovery of clinical tuberculosis, caused by (), in free-ranging vervet monkeys (). The "One Health" concept is especially relevant to TB since this is a multi-host disease with zoonotic potential and is endemic in GKCA.

In vivo hyperphosphorylation of tau is associated with synaptic loss and behavioral abnormalities in the absence of tau seeds.

Tau pathology is a hallmark of several neurodegenerative diseases, including frontotemporal dementia and Alzheimer's disease. However, the sequence of events and the form of tau that confers toxicity are still unclear, due in large part to the lack of physiological models of tauopathy initiation and progression in which to test hypotheses. We have developed a series of targeted mice expressing frontotemporal-dementia-causing mutations in the humanized MAPT gene to investigate the earliest stages of tauopathy.

Genomic and transcriptomic profiling of radioresistant prostate and head and neck cancers implicate a BAHD1-dependent modification of DNA damage at the heterochromatin.

Radiotherapy is an integral modality in treating human cancers, but radioresistance remains a clinical challenge due to the involvement of multiple intrinsic cellular and extrinsic tumour microenvironment factors that govern radiosensitivity. To study the intrinsic factors that are associated with cancer radioresistance, we established 4 radioresistant prostate (22Rv1 and DU145) and head and neck cancer (FaDu and HK1) models by irradiating their wild-type parentals to 90 Gy, mimicking the fractionated radiotherapy schema that is often using in the clinic, and performed whole exome and transcriptome sequencing of the radioresistant and wild-type models. Comparative genomic analyses detected the enrichment of mismatch repair mutational signatures (SBS6, 14, 15, 20) across all the cell lines and several non-synonymous single nucleotide variants involved in pro-survival pathways.

The role of personality traits and life stress in alcohol use disorder: Insights from NGF gene polymorphisms of Han Chinese population in Taiwan.

Objective: Alcohol use disorder (AUD) is a complex neuropsychiatric condition influenced by genetic and environmental factors. Nerve growth factor (NGF) plays a crucial role in neuronal neuroplasticity and chronic alcohol consumption may alter NGF levels in specific brain regions. The study investigates the associations between NGF gene polymorphisms, susceptibility to AUD, and specific stress and personality characteristics.

Description of Cohnella rhizoplanae sp. nov., isolated from the root surface of soybean (Glycine max).

A Gram-staining-positive, aerobic bacterium, designated strain JJ-181, was isolated from the root surface of soybean. Based on the 16S rRNA gene sequence similarities, strain JJ-181 was grouped into the genus Cohnella, most closely related to Cohnella hashimotonis F6_2S_P_1 (98.85%) and C.

Electronically Monitored Antidepressant Adherence in Adolescents with Anxiety Disorders: A Pilot Study.

Antidepressant medication adherence patterns are inconsistent in adolescents with anxiety and related disorders, and the clinical and demographic features predicting adherence are poorly understood. In an ongoing single-site prospective trial involving adolescents (aged 12-17) with the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition anxiety disorders treated with escitalopram, adherence was measured for 12 weeks using electronic monitoring caps. Adherence patterns were examined using qualitative and unsupervised clustering approaches, and predictors of adherence were evaluated using logistic regression, with demographic (age, sex, and race) and clinical variables (e.

Does cognitive intra-individual variability predict change in everyday functioning performance in women with and without HIV in the Women's Interagency HIV Study?

This study examined the association between cognitive intra-individual variability (IIV), a non-mean-based indicator of underlying neuropathology, and self-reported everyday functioning of 1,086 women with HIV (WWH) and 494 socio-demographically similar women without HIV (WWoH). Objective cognitive performance across seven domains and the self-rated Lawton & Brody scale of Instrumental Activities of Daily Living (IADL) were assessed among participants of the Women's Interagency HIV Study. Two types of cognitive IIV were calculated by taking the standard deviation across seven cognitive domains to calculate dispersion: 1) intra-individual standard deviation (denoted as IIV) and 2) coefficient of variation (denoted as IIV).

Dietary polyunsaturated fatty acids and gastric cancer.

Polyunsaturated fatty acids (PUFAs) are fatty acids, containing more than one double bond and have both anti-inflammatory properties and inhibit tumor progression effects as well as carcinogenic properties. There is inconclusive evidence regarding the effect of PUFA intake on gastric cancer in diverse populations. We, therefore, aimed to determine the association between PUFA intake and risk of gastric cancer in a hospital-based case-control study comprising 1182 incident cases of gastric cancer and 2965 controls in Vietnam.

Improving PD-1 blockade plus chemotherapy for complete remission of lung cancer by nanoPDLIM2.

Immune checkpoint inhibitors (ICIs) and their combination with other therapies such as chemotherapy, fail in most cancer patients. We previously identified the PDZ-LIM domain-containing protein 2 (PDLIM2) as a bona fide tumor suppressor that is repressed in lung cancer to drive cancer and its chemo and immunotherapy resistance, suggesting a new target for lung cancer therapy improvement. In this study, human clinical samples and data were used to investigate genetic and epigenetic changes in lung cancer.

Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.

Background: Systemic juvenile idiopathic arthritis-related lung disease (sJIA-LD) is a severe complication in patients with treatment-refractory systemic juvenile idiopathic arthritis (sJIA). The objective of this study was to evaluate the effect of allogeneic haematopoietic stem-cell transplantation (HSCT) in a cohort of children with sJIA-LD.

Methods: This international, retrospective cohort study was performed in nine hospitals across the USA and Europe in children with sJIA-LD who had received allogeneic HSCT.

Next generation brain health: transforming global research and public health to promote prevention of dementia and reduce its risk in young adult populations.

Efforts to prevent dementia can benefit from precision interventions delivered to the right population at the right time; that is, when the potential to reduce risk is the highest. Young adults (aged 18-39 years) are a neglected population in dementia research and policy making despite being highly exposed to several known modifiable risk factors. The risk and protective factors that have the biggest effect on dementia outcomes in young adulthood, and how these associations differ across regions and groups, still remain unclear.

Contrasting genetic burden for bipolar disorder: Early onset versus late onset in an older adult bipolar disorder sample.

Older Adults with Bipolar Disorder (OABD) represent a heterogeneous group, including those with early and late onset of the disorder. Recent evidence shows both groups have distinct clinical, cognitive, and medical features, tied to different neurobiological profiles. This study explored the link between polygenic risk scores (PRS) for bipolar disorder (PRS-BD), schizophrenia (PRS-SCZ), and major depressive disorder (PRS-MDD) with age of onset in OABD.

Human Cytomegalovirus Replication Enhanced By Placental MicroRNAs.

Placental trophoblasts constitute the interface between the fetal and maternal environments and physically prevent maternal-fetal viral transmission. However, congenital human cytomegalovirus (HCMV) infection in the early stages of pregnancy results in severe symptoms in the fetus. HCMV is the most common causative agent of intrauterine infection.

Design, Synthesis, and Evaluation of Novel 2,4-disubstituted Pyrimidine Derivatives as Double Mutant Epidermal Growth Factor Receptor-L858R/T790M Tyrosine Kinase Inhibitors.

A series of 2,4-disubstituted pyrimidine derivatives bearing 5-substituted-1,3,4 thidiazole were devised and synthesized based on the binding mode of the approved drug Osimertinib with the ATP competitive site of EGFR-L858R/T790M in order to increase selectivity towards double mutant EGFR and potent antitumor activity. Their cellular bioactivity and corresponding enzyme inhibition were studied, and it was revealed that several compounds had significant biological activity and selectivity when compared to the control compounds. One of the most promising compound 8, substantially suppressed the proliferation of H1975 cells and showed significant inhibition of double mutant EGFR-L858R/T790M TK with IC values of 0.

Genome-wide epigenetic profiling and transcriptome analysis in pediatric Obstructive Sleep Apnea: A focus on Black female children.

Obstructive Sleep Apnea (OSA) is a common sleep-related breathing disorder characterized by airway obstruction during sleep. Diagnosing pediatric OSA is challenging, particularly in underrepresented populations, leading to disparities in treatment and long-term negative health outcomes. Our study aimed to identify alternative diagnostic tools by investigating genome-wide epigenetic changes and associated transcriptomic alterations in Black female, pediatric patients with OSA.