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This paper reports a case of Kagami-Ogata syndrome in a preterm infant with gestational age of 30 weeks. Prenatal ultrasonography suggested excess amniotic fluid, large biparietal diameter and abdominal circumference, and widening of the lateral ventricles, renal pelvis, and intestinal tubes in several places. Postnatal examination showed a small jaw, collapsed nose, and upturned nostrils; the chest was narrow and bell-shaped, and the abdominal wall showed diastasis recti and a bowel pattern. Chest radiographs showed 'hanger sign' ribs. Ultrasound showed widening of the lateral ventricles, hydronephrosis in both kidneys and cryptorchidism. Thyroid function tests suggested congenital hypothyroidism. Prenatal amniocentesis results obtained on day 6 after birth revealed the presence of a microdeletion of approximately 268.2 kb in the known genomic imprinted region 14q32.2 from the mother. The diagnosis of Kagami-Ogata syndrome was confirmed on the basis of the prenatal amniocentesis results and the clinical presentation of the infant after birth. The family gave up treatment after the infant was treated with ventilator, nutritional support, and antibiotics without significant improvement. In this paper, we summarize the diagnosis and treatment of this infant and review the literature inorder to enrich the clinical knowledge of this disease.

With the increasing usage of quality improvement (QI) methodology, the application of QI in healthcare field is gradually gaining attention. QI in healthcare field, guided by the specific aim, is to use the methodology of continuous and cyclic interventions to transform existing knowledge into clinical practice and to measure whether the interventions are effective through monitoring of quantifiable indicators, so as to improve the medical process and outcomes. In this paper, we introduce the structures of QI projects and reporting elements, including the title and abstract, introduction, results and discussion section, and offer examples for detailed explanation, with the hope of helping medical staff to better understand QI in the field of healthcare.

Objectives JDM is a rare autoimmune inflammatory muscle disease with a pronounced IFN signature. Treatment for children with JDM has improved over the years with the use of steroids and immunosuppressive agents. However, there remains a subset of children who have refractory disease. Janus kinase and type I IFN signalling production are suspected to contribute to the pathogenesis of JDM. Our pilot study investigated the use of tofacitinib, a Janus kinase inhibitor, in refractory JDM cases to provide new therapeutic options for better treatment. Methods Refractory JDM was defined as patients who failed two or more steroid sparing agents or high-dose steroids. Tofacitinib was given to three refractory JDM patients with a dose of 5 mg twice per day for at least 6 months. Core set measures defined by Pediatric Rheumatology International Trials Organization were evaluated at month 0, 3 and 6 along with other systemic evaluations. A literature review was conducted to identify all the cases using Janus kinase inhibitors in JDM. Results All three subjects tolerated and responded well to tofacitinib with significant improvement in Child Myositis Assessment Scale, manual muscle testing-8, physician global disease activity and inflammatory indices without occurrence of severe adverse events. Conclusion This pilot study showed improvement of muscle strength, resolution of cutaneous lesions, increased daily quality of life and successful tapering of steroids when tofacitinib used in selected cases. Tofacitinib can be considered with caution when treating refractory JDM cases. Further randomized controlled trials are warranted to assess its efficacy in JDM. [ABSTRACT FROM AUTHOR]

Background: In extremely premature infants, arterial hypotension in the first days after birth has been associated with an increased risk for bronchopulmonary dysplasia (BPD). Some infants present with hypotension at a later postnatal age, but the relationship between late onset hypotension (LOH) and BPD has not been evaluated. Objective: To evaluate the association between LOH and BPD and to identify pre- and postnatal factors associated with LOH. Methods: Prospectively collected data from a cohort of 23–28 weeks gestational age (GA) infants born during years 2005–2015 and alive at day 28 were analyzed. LOH was defined as the receipt of vasopressor treatment during days 8–28. BPD was defined as need for oxygen at 36 weeks postmenstrual age. Late mortality was defined as death after day 28. Results: Of 1,058 infants in the cohort, 90 (9%) had LOH during days 8–28. Infants with LOH had a higher incidence of BPD than normotensive infants (55 vs. 21%, p < 0.001). Multivariate logistic regression analysis (LRA) showed that LOH was associated with an increased risk for BPD (OR 1.87, 95% CI 1.10–3.17). LOH was also associated with an increased risk for late mortality. LRA showed the risk for LOH increased with lower GA, sepsis and patent ductus arteriosus during days 8–28. Conclusions: In this cohort of extremely premature infants, LOH was associated with an increased the risk for BPD. This association could be secondary to underlying factors that predispose to LOH and BPD or to the deleterious effects of LOH or its treatments on the lung. Further investigation is needed to assess causality. [ABSTRACT FROM AUTHOR]