Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.

The increasing use of molecular tools in genetic diagnosis has produced a surge in the detection of genomic imbalances. Among the growing number of newly discovered chromosome alterations are the interstitial deletions 14q21-q23. In previous reports of this deletion, the patients appear to share ocular defects, pituitary alterations and hand/foot anomalies. Here, we present a 12-year-old girl with dysmorphic face, choanal atresia, gastroesophageal reflux, and moderate developmental delay, in whom an interstitial deletion 14q22.3-q23.2 was detected using a 180k array comparative genome hybridization. The 6.5 Mb deletion contains 27 genes, including three genes of the SIX family: SIX1, SIX4, and SIX6. In mammals, Six1 has been shown to be involved in ocular differentiation, whereas Six4 and Six6 are primarily expressed in the hypothalamus, pituitary gland, and facial bones. We used data on mouse embryos to evaluate the expression of the SIX genes, as well as other representative genes lost in the current patient and a previously published case with a similar phenotype, in order to correlate their pattern of expression with the functional anomalies that constitute the patient's phenotype. We also explored the possibility of other genetic influences, such as the existence of an imprinted region in chromosome 14q, which may provide a better understanding of the observed clinical variability.

Promoting sleep and rest in hospitalized children: a best practice implementation project.

OBJECTIVE: The objective of this project was to implement scientific evidence to promote sleep and rest in pediatric patients during hospitalization. INTRODUCTION: Hospitals are not conducive to quality sleep, as external factors such as light, noise, and interruptions from health care staff can disturb patients. Being hospitalized has a detrimental impact on children's sleep because it reduces how much sleep they get and the quality of that sleep. It has been reported that up to 20% to 30% of hospitalized children experience sleep problems. METHODS: This project was conducted at the Marqués de Valdecilla University Hospital in Cantabria, northern Spain. The project used the JBI Evidence Implementation Framework, which is grounded in an audit, feedback, and re-audit process, together with a structured approach to identifying and managing barriers to change. The study subjects were 100 children aged 2 to 16 years, who were admitted to the hospital's pediatric unit from November to December 2021, and 27 multi-disciplinary health care staff. RESULTS: Implementing the evidence-based strategies improved our care practices, with the follow-up audit results showing a marked improvement in compliance. Thus, training health care staff on pediatric sleep increased from 4% to 80%; using a multi-faceted approach to sleep promotion increased from 21% to 87%; and promoting relaxation techniques to promote sleep increased from 0% to 80%. CONCLUSIONS: The project met its objectives. Areas for improving children's sleep and rest during hospitalization were identified. To avoid resistance to change, it was necessary to involve the entire team and maintain training. We recommend follow-up audits once a year, to ensure the sustainability of the project. SPANISH ABSTRACT: http://links.lww.com/IJEBH/A252.

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.

INTRODUCTION: Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung development disorder. METHODS: This study describes the clinical, radiological, and functional characteristics and long-term outcomes (median 12 years) of nine infants diagnosed with isolated PIG associated with alveolar simplification in the absence of other diseases. RESULTS: All patients presented with tachypnea. Additionally, seven patients had breathing difficulties and hypoxemia. Abnormalities in chest-computerized tomography (CT) with a pattern of ground-glass opacity, septal thickening, and air trapping were observed in all individuals, with images suggesting abnormal alveolar growth (parenchymal bands and architectural distortion). All lung biopsies showed alveolar simplification associated with an increased number of interstitial cells, which appeared as accumulated cytoplasmic glycogen. In the follow-up, all patients were asymptomatic. The respiratory function test was normal in only two patients. Five children showed an obstructive pattern, and two children showed a restrictive pattern. Chest-CT, performed after an average of 6.5 years since the initial investigation, revealed a partial improvement of the ground-glass opacity pattern; however, relevant alterations persisted. CONCLUSION: Although the patients with PIG in the absence of other associated pathologies had a good clinical outcome, significant radiographic alterations and sequelae in lung function were still observed after a median follow-up of 12 years, suggesting that PIG is a marker of some other persistent abnormalities in lung growth, which have effects beyond the symptomatic period.

Investigating an outbreak of non-specific building-related symptoms in workers of a general hospital.

OBJECTIVE: To obtain a case definition and to describe variables associated with a cluster of unspecific symptoms in healthcare workers (HCW) in a hospital building. MATERIALS AND METHODS: A cross-sectional study was performed. All people working at the Residencia Cantabria building (a 200-bed building belonging to University Hospital Marqués de Valdecilla) in June 2009 were invited to complete a self-administered questionnaire, including questions on demographic data, working place and shift, working conditions and current symptoms. A cluster analysis was developed to obtain the case definition. The strength of the association between the studied variables and accomplishing the case definition was measured using odds ratios (OR) with the 95% confidence interval (CI). Multiple logistic regression was used to obtain a predictive model; its general validity was estimated with Receiver Operating Curves (ROC) and their Area Under the Curve (AUC). RESULTS: 357 completed questionnaires were obtained. The case was defined as having at least 5 symptoms out of the eleven included. Not being ascribed to a specific shift was the strongest protective variable related with "being a case" (OR = 0.30; 95% CI: 0.17-0.54), whereas the personal antecedent of distal pain or inflammation in arms or legs was the main risk factor (OR = 4.33, 95% CI: 2.75-6.82). A six-variable predictive model has AUC equaling to 0.7378. CONCLUSIONS: A disease associated with the indoor environment quality in a hospital was characterized. A multivariate score was drafted for identifying HCW with higher risk of developing the disease in order to apply administrative prevention measures.