Coordinates: 51°31′23″N 0°07′13″W / 51.523166°N 0.120194°W / 51.523166; -0.120194The UCL Great Ormond Street Institute of Child Health (ICH) is an academic department of the Faculty of Population Health Sciences of University College London (UCL) and is located in London, United Kingdom. It was founded in 1946 and together with its clinical partner Great Ormond Street Hospital (GOSH), forms the largest concentration of children's health research in Europe. In 1996 the Institute merged with University College London. Current research focusses on broad biomedical topics within child health, ranging from developmental biology, to genetics, to immunology and epidemiology.
Background: Dermatology AI has mainly focused on image-based diagnosis, while chronic disease workflows have received less attention. We surveyed Indian dermatologists to map routine clinical challenges, with a focus on atopic dermatitis (AD), and assess current AI use. Methods: A nationwide cross-sectional survey commissioned by the Society for Eczema Studies included 377 practicing Indian dermatologists. The survey assessed clinical challenges, AD workflow barriers, AI use, adoption barriers, and ethical concerns. Analyses used descriptive statistics, chi-square tests, false discovery rate correction, and multivariable logistic regression. Results: Patient adherence (61.3 Conclusion: Respondents reported using general-purpose AI mainly for cognitive and administrative tasks, while their clinical needs centered on chronic disease management and AD workflow support. Clinician-supervised workflow tools may be more useful than standalone diagnostic applications.
Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Central Europe. This study aimed to evaluate the current status of NBS in 16 countries of SE and Central Europe and assess progress since the previous survey in 2021. A structured questionnaire was distributed to national experts between April and December 2025, collecting data on program organization, coverage, diseases included, laboratory methods, confirmatory testing, consent practices, and future expansion plans. All countries reported universal screening for congenital hypothyroidism, except Kosovo, where a national NBS is in the process of being established. Expanded NBS using tandem mass spectrometry was available in Austria, Bulgaria, Croatia, Cyprus, Greece, Hungary, North Macedonia, Romania, and Slovenia. Spinal muscular atrophy screening became universal in Austria, Croatia, Hungary, Serbia, and Slovenia. Most countries reported plans for further expansion, with congenital adrenal hyperplasia, severe combined immunodeficiency, spinal muscular atrophy, and cystic fibrosis being the most frequently targeted conditions. Although notable infrastructural progress has been achieved, financial constraints, lack of staff, and organizational barriers remain key challenges. The study’s assessment of program effectiveness was further limited by the absence of region-wide systems for capturing end-to-end performance indicators, such as the age of the infant at treatment initiation or missed cases. Regional collaboration and adoption of best practices are therefore vital to ensure equitable access and continuous advancement of NBS programs.
Objectives: To evaluate real-world evidence on the clinical effectiveness and safety of faropenem in the management of upper respiratory tract infections (URTIs) in Indian paediatric patients. Methods: This multicentre, retrospective study analyzed medical records of paediatric patients (≤12 years) treated with faropenem oral suspension for URTIs. Records with complete and evaluable clinical data were included. Data collected comprised type of URTI, prescribed and actual duration of therapy, dosage and dosing frequency, laboratory parameters such as white blood cell (WBC) count and C-reactive protein (CRP) levels (where available), clinical outcomes, and adverse events. Assessments were conducted at baseline and follow-up, and results were analyzed using descriptive statistics. Results: A total of 965 records (673 males; 292 females) were evaluated, with a mean age of 7.65 ± 2.87 years. Diagnoses included undifferentiated URTI (n=648), acute otitis media (n=142), tonsillitis (n=81), pharyngitis (n=79), and acute sinusitis (n=15). The mean prescribed and actual treatment durations were 5.96 ± 1.83 and 5.87 ± 1.81 days, respectively. Faropenem was administered twice daily in 309 patients and thrice daily in 656 patients. Clinical cure was achieved in 505 patients (52.33%), while 460 (47.67%) showed improvement. Among patients with available laboratory data, elevated baseline CRP and WBC values normalized in the majority at follow-up (CRP: 88%; WBC: 84%). No major adverse events were reported. Conclusion: Faropenem demonstrated excellent real-world effectiveness and safety in paediatric URTIs. Consistent clinical improvement and normalization of inflammatory markers support its role as a well-tolerated therapeutic option in this population. Key words: Oral carbapenem, Real-world data, Clinical outcomes, Inflammatory biomarkers
Atopic dermatitis (AD) is the most common inflammatory skin disease and carries the highest disability-adjusted life-years burden, ranking 15th among all non-fatal diseases globally. It is characterized by intensely itchy skin and is associated with multiple comorbidities, such as food allergy, asthma, allergic rhinitis and eosinophilic oesophagitis, which are mainly driven by type 2 immune responses. Other comorbidities include mental health disorders, disordered bone health, and cutaneous and extracutaneous infections. AD is also associated with other immune-mediated inflammatory diseases, including alopecia areata, vitiligo and inflammatory bowel disease. AD most often starts in the first 2 years of life but can occur at any life stage and onset at >60 years of age is increasingly common. The twenty-first century has brought greater insights into disease pathology, with an understanding of the complex interplay between the skin barrier, cutaneous and systemic immune pathways, cutaneous microbiome and neural networks. This improved mechanistic understanding has enabled rational drug design and a shift from non-specific broad immunomodulation to targeted biologic therapies and small molecules for severe disease and from topical corticosteroids to next-generation therapies for mild and moderate disease. Yet, considerable global inequity remains in access to these novel therapeutics.
Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders. A total of 184 patients with suspected rare neurological disorders were enrolled in this study. Detailed demographic and clinical data were collected, and WES was performed to identify pathogenic and likely pathogenic variants. Variants were annotated and interpreted using standard guidelines, and inheritance patterns were determined. The cohort showed a slight male predominance, with the majority of cases presenting in early childhood (mean age at onset: 29.62 ± 27.69 months). The most common clinical features included developmental delay (82.06
