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Jedidah Olayinka Johnson Department of Pediatrics, University of Sierra Leone Teaching Hospital Complex, Freetown, Sierra LeoneCorrespondence: Jedidah Olayinka Johnson, Department of Pediatrics, University of Sierra Leone Teaching Hospital Complex, Freetown, Sierra Leone, Tel +232 79533962, Email jedidahj18@gmail.comPurpose: To assess the feasibility of implementing family centered care and the impact this would have on parental satisfaction in a special care baby unit in Sierra Leone.Patients and Methods: A cross-sectional, mixed methods study was conducted at the Rokupa Government Hospital, Sierra Leone. 16 nursing staff of the Special Care Baby Unit and 7 caregivers of neonates admitted in the unit participated in the study. Quantitative data on feasibility was obtained from nursing staff using a five-point Likert scale administered to staff before and after implementation of family centered care in the unit. Qualitative data on perception of impact was obtained through focus group discussions for caregivers whose neonates had received family centered care and a control group who had received standard unit care. Quantitative data was analyzed using univariate analysis and thematic analysis was undertaken for qualitative data.Results: Before implementation, most nursing staff felt implementation of family centred care was not feasible (87.5%) and more than half of nursing staff either strongly agreed or agreed with each of the negative statements regarding the practice of family centred care indicating a generally negative perception. After implementation there was improvement in nursing staff perception of family centred care, however the majority still doubted the continued feasibility of this practice (68.8%). Qualitative discussions with caregivers demonstrated that caregivers whose babies received family centered care were less distressed and more satisfied during the period of admission than those who received routine care.Conclusion: Family centered care improved the experiences of caregivers in the unit. Nursing staff also demonstrated a better understanding of the benefits of family centered care after it was implemented. Concerns regarding understaffing and the unit being too small to accommodate caregivers and staff at the same time need to be addressed. There is need to integrate family centered care into hospital policy.Keywords: family centered care, neonates, nursing care, Sierra Leone

Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondroitin-6-sulfate. Homozygous or compound heterozygous pathogenic variants in the GALNS result in the deficiency of the enzyme and consequent GAG accumulations. DNA sequence and copy number analysis of the GALNS coding region fails to identify biallelic causative pathogenic variants in up to 15% of patients with Morquio syndrome A. RNA transcript analysis was performed to identify pathogenic alterations in two unrelated families with Morquio syndrome A in whom a single heterozygous or no pathogenic alteration was detected by standard analysis of the GALNS gene. RNA sequencing and quantitative expression analysis identified the overabundance of an aberrant GALNS transcript isoform and a reduction of the clinically relevant isoform (NM_000512.4) in the Morquio syndrome A patients from both families. The aberrant isoform (ENST00000568613.1) was produced by alternative splicing and contained intronic sequence that was likely a cryptic exon predicted to result in a reading frame shift and generation of a premature termination codon. These findings indicated that the aberrant splicing is likely the novel molecular defect in our patients. RNA transcript analysis could be useful to identify pathogenic alterations and increase the yield of molecular diagnosis in patients with Morquio syndrome A whose genetic variants are not found by standard sequencing or gene dosage analysis.

This paper systematically identifies, maps and evaluates specific types of provision for autistic students published on university websites at 120 institutions throughout the UK. Within these data we identify trends in relation to geographical region, university group, and the Teaching Excellence Framework rating. We employ Nancy Fraser's theory of social justice to unpack the reasons that underlie the differentials in provision across UK higher education institutions. Findings identify eight categories of provision tailored specifically for autistic students from 'supporting transition to university' to 'social groups' and suggest that there are institutions across the UK with evidence of more developed provision. Our data show, however, that resources and provision are not distributed equitably, raising implications for autistic students' parity of participation in higher education.

BACKGROUND: Fetal Medicine Foundation (FMF) studies suggest that preterm preeclampsia can be predicted in the first trimester by combining biophysical, biochemical, and ultrasound markers and prevented using aspirin. We aimed to evaluate the FMF preterm preeclampsia screening test in nulliparous women. METHODS: We conducted a prospective multicenter cohort study of nulliparous women recruited at 11 to 14 weeks. Maternal characteristics, mean arterial blood pressure, PAPP-A (pregnancy-associated plasma protein A), PlGF (placental growth factor) in maternal blood, and uterine artery pulsatility index were collected at recruitment. The risk of preterm preeclampsia was calculated by a third party blinded to pregnancy outcomes. Receiver operating characteristic curves were used to estimate the detection rate (sensitivity) and the false-positive rate (1-specificity) for preterm (<37 weeks) and for early-onset (<34 weeks) preeclampsia according to the FMF screening test and according to the American College of Obstetricians and Gynecologists criteria. RESULTS: We recruited 7554 participants including 7325 (97%) who remained eligible after 20 weeks of which 65 (0.9%) developed preterm preeclampsia, and 22 (0.3%) developed early-onset preeclampsia. Using the FMF algorithm (cutoff of ≥1 in 110 for preterm preeclampsia), the detection rate was 63.1% for preterm preeclampsia and 77.3% for early-onset preeclampsia at a false-positive rate of 15.8%. Using the American College of Obstetricians and Gynecologists criteria, the equivalent detection rates would have been 61.5% and 59.1%, respectively, for a false-positive rate of 34.3%. CONCLUSIONS: The first-trimester FMF preeclampsia screening test predicts two-thirds of preterm preeclampsia and threequarters of early-onset preeclampsia in nulliparous women, with a false-positive rate of ≈16%. [ABSTRACT FROM AUTHOR]

BackgroundBenign breast disease is an important risk factor for breast cancer. We studied a large group of women with benign breast disease to obtain reliable estimates of this risk.MethodsWe identified all women who received a diagnosis of benign breast disease at the Mayo Clinic between 1967 and 1991. Breast-cancer events were obtained from medical records and questionnaires. To estimate relative risks, we compared the number of observed breast cancers with the number expected on the basis of the rates of breast cancer in the Iowa Surveillance, Epidemiology, and End Results registry.ResultsWe followed 9087 women for a median of 15 years. The histologic findings were nonproliferative lesions in 67 percent of women, proliferative lesions without atypia in 30 percent, and atypical hyperplasia in 4 percent. To date, 707 breast cancers have developed. The relative risk of breast cancer for the cohort was 1.56 (95 percent confidence interval, 1.45 to 1.68), and this increased risk persisted for at least 25 years after biopsy. The relative risk associated with atypia was 4.24 (95 percent confidence interval, 3.26 to 5.41), as compared with a relative risk of 1.88 (95 percent confidence interval, 1.66 to 2.12) for proliferative changes without atypia and of 1.27 (95 percent confidence interval, 1.15 to 1.41) for nonproliferative lesions. The strength of the family history of breast cancer, available for 4808 women, was a risk factor that was independent of histologic findings. No increased risk was found among women with no family history and nonproliferative findings. In the first 10 years after the initial biopsy, an excess of cancers occurred in the same breast, especially in women with atypia.ConclusionsRisk factors for breast cancer after the diagnosis of benign breast disease include the histologic classification of a benign breast lesion and a family history of breast cancer.