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Case Report: Recurrent pathogenic mutation c.110G>A in DHDDS gene

Recent studies have demonstrated the close association of mutations in the dehydrodolichyl diphosphate synthase (DHDDS) gene with neurodevelopmental disorders and the onset of epilepsy. This report describes a female patient harboring a de novo heterozygous variant c.110G>A (p.Arg37His) in the DHDDS gene, characterized by childhood-onset myoclonus-like movement disorder (at age 6) and late-onset epilepsy (at age 17). The movement disorder was remarkably improved through the levetiracetam+ clonazepam+ haloperidol triple therapy, and epileptic seizures were also effectively controlled. A retrospective analysis of 59 epilepsy patients with DHDDS gene variants revealed significant clinical heterogeneity in disease phenotypes caused by DHDDS mutations. Epilepsy was identified as the predominant symptom, commonly accompanied by movement disorders and varying degrees of intellectual disability. Furthermore, while pathogenic mutations in DHDDS tend to be relatively clustered, no definitive genotype-phenotype correlation has been established. This study highlights the clinical manifestations, imaging features, treatment experiences, and genetic testing results through case reports and literature review, thereby providing crucial references for the clinical diagnosis, treatment, and further research of such diseases.
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Application of neuromodulation techniques in irritable bowel syndrome

Irritable bowel syndrome (IBS) is a gut-brain interaction disorder characterized by abdominal pain/abdominal discomfort accompanied by changes in bowel motility. Its pathogenesis involves the interaction of multiple factors, including abnormalities of the brain-gut axis, intestinal microbiota dysbiosis, and visceral hypersensitivity. Traditional treatment strategies mainly focus on symptomatic relief, which have limitations such as insufficient targeting and significant side effects. Neuromodulation techniques, as an emerging treatment modality, modulate the central or peripheral nervous system through electrical and electromagnetic means, targeting key pathways of the brain-gut axis. These techniques can regulate gut motility and suppress inflammatory responses, thereby alleviating IBS symptoms. Currently, several techniques are widely applied, including electroacupuncture (EA), Sacral Nerve Stimulation (SNS), transcutaneous auricular vagus nerve stimulation (taVNS), and transcutaneous electrical nerve stimulation (TENS). Multiple clinical trials have confirmed their effectiveness in relieving abdominal pain, improving bowel dysfunction, and enhancing quality of life. However, there are still issues such as significant individual differences and insufficient long-term efficacy data. Future research should focus on the development of personalized treatment plans, exploration of combination therapy strategies, and technological innovation to further enhance their clinical value.
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Long-term neurodevelopment in preterm neonates with necrotizing enterocolitis: systematic review and meta-analysis

IntroductionNecrotizing enterocolitis (NEC) is a common complication in preterm infants and is associated with significant mortality and long-term morbidity, including gastrointestinal sequelae, brain injury, and developmental delays. This systematic review and meta-analysis examines long-term neurodevelopmental outcomes in infants born at less than 34 weeks’ gestation who survive NEC and identifies specific developmental domains most vulnerable to neurodevelopmental impairment.MethodsThe systematic review was performed according to the PRISMA guidelines. We systematically searched Pubmed (including MEDLINE), Embase and Web of Science for relevant articles. Studies were graded for quality using the GRADE system and bias was assessed using the ROBINS-E Risk of Bias tool. We performed gestational-age stratified subgroup analyses (22–28 weeks versus 29–34 weeks) and evaluated the risk of impairment in different neurodevelopmental domains.ResultsSurvivors of NEC are at increased risk of neurodevelopmental impairment (RR 1.42, 95% CI 1.32–1.53). Several neurodevelopmental domains are negatively impacted, such as motor skills (RR 2.08, 95% CI 1.86–2.32), cognition (RR 1.75, 95% CI 1.57–1.96), vision (RR 4.36, 95% CI 2.91–6.55), hearing (RR 4.09, 95% CI 2.91–5.77) and cerebral palsy (RR 2.48, 95% CI 2.15–2.86). The risk of epilepsy and behavioral problems does not differ between NEC survivors and age-matched controls. This increased risk of impairment after NEC persists after stratification for gestational age and extends into school-age.ConclusionNEC Survivors face an elevated risk of neurodevelopmental impairment, irrespective of gestational age, with deficits spanning multiple developmental domains. These findings highlight the need for targeted, long-term follow-up to enable timely detection and individualized interventions for developmental delays throughout childhood.Systematic review registrationhttp://www.crd.york.ac.uk/PROSPERO, identifier CRD42022322564.
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Association between childhood ADHD problems and premature mortality: identifying modifiable cardiovascular mechanisms in a UK population cohort

BackgroundIndividuals with attention deficit hyperactivity disorder (ADHD) are at increased risk of premature mortality, but the mechanisms that underlie this association after young adulthood are unknown. As ADHD is associated with cardiovascular disease, modifiable cardiovascular risk factors could contribute to links between ADHD and premature mortality.AimsThis study aims to investigate whether specific cardiovascular risk factors explain the association between childhood ADHD problems and a higher risk of premature mortality.MethodsWe used the UK 1958 birth cohort, the National Child Development study (NCDS), and linked death register data to examine whether children with ADHD problems at age 7 years were at higher risk of premature mortality by age 58 and if specific modifiable cardiovascular risk factors, measured at midlife (age 44 years), mediated this association using path analysis.ResultsA total of 8,016 individuals completed both the age 7 ADHD assessment and the age 44/45 biomedical assessment. Of these individuals, 231 (3.1%) were grouped as likely having ADHD. The odds ratio (OR) for deaths (n = 251) in the ADHD group versus the non-ADHD group was 1.86 (95% CI 1.08–3.17). The risk was largely explained by cigarette smoking status at midlife and by a higher waist–hip ratio (a measure of obesity).ConclusionsChildhood ADHD problems are associated with a higher risk of premature mortality by age 58. This risk seems to be mainly explained by two potentially modifiable cardiovascular risk factors: obesity and smoking. These risks should be prioritized for preventative interventions to reduce the risk of premature mortality in those with a history of ADHD.
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Erratum

Erratum to: “The Link Between Weight Gain and Hippocampal Atrophy in Bipolar Disorder: A Longitudinal Investigation in 934 Participants,” by Fraiha-Pegado et al. (Biol Psychiatry 2026); https://doi.org/10.1016/j.biopsych.2026.01.020.

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Stable Producer Cell Line Generation Platform Adds to VIVEbiotech’s Lentiviral Vector Manufacturing Capabilities

VIVEbiotech, a Spanish lentiviral vector (LVV) CDMO, has added EvoLVcell to its catalog of LVV-manufacturing products. EvoLVcell is a stable producer cell line (SCL) generation platform designed to reduce batch‑to‑batch variability, improve vector quality, and provide a more predictable long‑term production strategy for LVVs. The fully integrated platform requires only the addition of a developer’s transgenic element to the fully characterized monoclonal PCL, avoiding transfection, explained a VIVEbiotech spokesperson, who added that this simplifies the manufacturing workflow, improving long-term predictability and reducing reliance on plasmid and transfection reagent supply chains.

The characterized, inducible, monoclonal lentiviral packaging cell line (PCL) derisks SCL generation by incorporating the therapeutic transgene that typically would be transfected together with the helper plasmids, noted Andrés Lamsfus-Calle, PhD, product development manager at VIVEbiotech. This SCL platform generation enables VIVEbiotech to get a prototype cell line in three months, pointed out Lamsfus-Calle.

EvoLVcell reduces variability and produces fewer impurities, of particular importance to gene therapeutics, according to a company statement. “At the same time, the platform’s extensive characterization enables rapid yield assessment through a rapid proof-of-concept, allowing developers to reach a clear go/no-go inflection point in just three months,” continued the statement.

“Achieving cost efficiency and high reproducibility is essential for the scalable production of lentiviral vectors and for expanding patient access. Stable producer cell lines provide a reliable and scalable manufacturing platform to support this goal,” said Lamsfus-Calle.

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