Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region.

BACKGROUND: The West Midlands Newborn Bloodspot Screening Laboratory is one of 16 in the UK and serves two tertiary paediatric cystic fibrosis (CF) centres (Staffordshire Children's Hospital at Royal Stoke and Birmingham Children's Hospital). CF newborn bloodspot screening (NBS) in this region started in November 2006 prior to the UK national roll-out in 2007. It uses an immunoreactive trypsinogen (IRT)/DNA/IRT protocol. We report the outcomes from 15 years of CF screening. METHODS: The West Midlands CF NBS outcomes from 1 November 2006 to 31 October 2021 were reviewed. Clinical data were also obtained for babies referred to the CF centres as 'CF suspected'. RESULTS: 1 075 161 babies were screened, with 402 referred as 'CF suspected' and 205 identified as CF carriers. Of the 'CF suspected' babies, 268 were diagnosed with CF, 33 with CF screen positive, inconclusive diagnosis (CFSPID) and 17 as a CF carrier. Any CF-related diagnosis was excluded in 67. Outcome data were not available for 17, of whom 14 had died. Eighteen children with a negative CF NBS have subsequently been diagnosed with CF, 10 had meconium ileus and 8 were true 'affected not detected', presenting with respiratory symptoms or failure to thrive. This gives the West Midlands a CF birth prevalence of 1 in 4012 live births and the NBS protocol a sensitivity of 97.1% and a positive predictive value of 66.7%. CONCLUSIONS: This large regional data set has excellent case ascertainment and demonstrates successful performance of the CF NBS protocol, with low numbers identified as CFSPID or CF carriers.

Sexually transmitted infections in suspected child sexual abuse.

Making associations between sexually transmitted infections (STIs) and child sexual abuse can be controversial. To contribute to the paucity of research in this field, this service evaluation aims to (1) define the prevalence of STIs in children aged 0-13 years seen at a regional Children's Sexual Assault Referral Centre, (2) determine whether sexual transmission is the most likely mode of transmission for diagnosed STIs, (3) identify factors affecting application of STI screening and (4) assess follow-up. Methods consisted of retrospective analysis of an anonymous database for all patients seen between 1 July 2016 and 1 July 2019. Of 241 children seen, 114/241 (47.3%) received STI screening and 10/114 (8.8%) tested positive (4.1% of children seen overall). No asymptomatic child was diagnosed with an STI. Sexual transmission was the most likely mode of transmission based on child disclosure and physical examination findings for 6/10 children diagnosed with an STI.

Associations of the skin, oral and gut microbiome with aging, frailty and infection risk reservoirs in older adults.

Older adults represent a vulnerable population with elevated risk for numerous morbidities. To explore the association of the microbiome with aging and age-related susceptibilities including frailty and infectious disease risk, we conducted a longitudinal study of the skin, oral, and gut microbiota in 47 community- or skilled nursing facility-dwelling older adults vs. younger adults. We found that microbiome changes were not associated with chronological age so much as frailty: we identified prominent changes in microbiome features associated with susceptibility to pathogen colonization and disease risk, including diversity, stability, heterogeneity, and biogeographic determinism, which were moreover associated with a loss of Cutibacterium (C.) acnes in the skin microbiome. Strikingly, the skin microbiota were also the primary reservoir for antimicrobial resistance, clinically important pathobionts, and nosocomial strains, suggesting a potential role particularly for the skin microbiome in disease risk and dissemination of multidrug resistant pathogens.

Efficacy of Telephone Health Coaching Integration with Standard Multidisciplinary Care for Adults with Obesity Attending a Weight Management Service: A Pilot Study.

Australia has one of the highest prevalences of obesity in the developed world with recognised gaps in patient access to obesity services. This non-randomised before and after study investigated the health benefits and patient acceptability of integrating the Get Healthy Service, a state-funded telephone-delivered coaching service in Australia, as an adjunct to multidisciplinary care for adults attending a public obesity service. Forty-one participants received multidisciplinary care alone while 39 participants were subsequently allocated to receive adjunctive treatment with the Get Healthy Service. Weight, body mass index, glycosylated haemoglobin, measurement of hepatic steatosis and liver enzymes were collected at baseline and 6 months. Participant evaluation was obtained post intervention. Statistically significant reductions from baseline were achieved for both control and intervention with respect to weight (-6.7 ± 2.2 kg, p = 0.01; -12.6 ± 3.2, p = 0.002), body mass index (-2.3 ± 0.8, p = 0.01; -4.8 ± 1.2 kg/m2, p = 0.002) and glycosylated haemoglobin (-0.2 ± 0.2%, p = 0.2 (NS); -0.7 ± 0.2%, p = 0.02), respectively. There were no significant differences in steatosis or liver enzymes or in outcomes between control and intervention cohorts. A high level of patient acceptability was reported. Integrating telephone-delivered coaching provided non-inferior care and high levels of patient satisfaction. Telephone coaching aligned with the principles of an obesity service should be trialled to improve patient access to obesity interventions.

See no evil, hear no evil .

A 32-year-old woman presented with right-sided visual loss, hearing loss and diffuse headache. Examination confirmed CN-II, V1/2, and VIII neuropathies. MRI showed an infiltrative skull-base process involving the pachymeninges. Serology and histopathology confirmed idiopathic hypertrophic pachymeningitis.

Intra-arterial chemotherapy for retinoblastoma in eyes with vitreous and/or subretinal seeding: 2-year results.

BACKGROUND/AIMS: To review the effectiveness of intra-arterial chemotherapy for advanced intra-ocular retinoblastoma with vitreous and/or subretinal seeds in naive (untreated) and previously treated eyes. METHODS: Retrospective study, approved by the institutional review board, of 76 eyes of 67 patients with retinoblastoma with subretinal and/or vitreous seeding treated with intra-arterial chemotherapy at Memorial Sloan-Kettering Cancer Center between May 2006 and August 2010. RESULTS: Despite advanced intraocular disease with seeding, the majority (56/76) of eyes were saved; 20/76 eyes were enucleated. Among treatment-naive eyes, the 2-year probability of ocular salvage was 83% (95% CI 27% to 97%) for eyes with subretinal seeding only, 64% (95% CI 24% to 87%) for eyes with vitreous seeding only, and 80% (95% CI 40% to 95%) for eyes with both. Among eyes that received previous treatment and had progressed, the 2-year probability of ocular salvage was 50% (95% CI 15% to 78%) for eyes with only subretinal seeding, 76% (95% CI 48% to 91%) for eyes with vitreous seeding only, and 54% (95% CI 20% to 79%) for eyes with both. Nine of 29 naive eyes (31%) were cured with intra-arterial (super-selective ophthalmic artery infusion of chemotherapy) chemotherapy alone. CONCLUSION: Unlike radiation or systemic chemotherapy, intra-arterial chemotherapy can usually prevent the need for enucleation in naive eyes with advanced intraocular retinoblastoma with seeding-especially if the seeding is subretinal. Treatment appears to be less effective in previously treated eyes when subretinal seeding is present (50% at 2 years), but may be more effective in eyes that failed to respond to previous systemic chemotherapy and have only vitreous seeding.

Publication rates of registered clinical trials in macular degeneration.

PURPOSE: The purpose of this study was to evaluate the rate of publication of registered clinical trials concerning age-related macular degeneration (AMD). METHODS: The National Institutes of Health's ClinicalTrials.gov registry was searched to identify all trials concerning AMD. Trials that were actively recruiting, not interventional, terminated, or did not actually concern AMD were excluded. Only trials completed 2 or more years before this analysis was started were included, to allow for adequate time to pass before publication was expected to occur. PubMed.gov was then searched to evaluate the publication status of each study. RESULTS: Three hundred and eight-six studies were initially identified, and 64 (16.5%) were included in the final evaluation. Three hundred and twenty-one studies were not included for the following reasons: 171 did not involve AMD or were not interventional; 141 were not completed by January 1, 2007; and 9 trials were terminated. Of the 64 trials included, 35 (54%) were published. Early phase trials were published at a lower rate (41.6% [15/36]) than late-phase trials (71.4% [20/28]). This difference was statistically significant (P = 0.02). The sponsor type, date of study initiation, and location did not influence the publication rate. CONCLUSION: Using broad study parameters, 54% of registered interventional clinical trials in AMD have been reported in the peer-reviewed literature.