OBJECTIVE: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID.
METHODS: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study.
RESULTS: A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus Calmette-Guérin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 10(9)/L with over 88% patients below 3 × 10(9)/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis.
CONCLUSION: FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 10(9)/L.
AIM: To investigate whether the endometrium of women with PCOS possesses gene expression changes similar to those found in EC.
DESIGN AND METHODS: Patients with EC, PCOS and control women unaffected by either PCOS or EC were recruited into a cross-sectional study at the Nottingham University Hospital, UK. For RNA sequencing, representative individual endometrial biopsies were obtained from women with EC, PCOS and a woman unaffected by PCOS or EC. Expression of a subset of differentially expressed genes identified by RNA sequencing, including NAD(P)H quinone dehydrogenase 1 (NQO1), was validated by quantitative reverse transcriptase PCR validation (n = 76) and in the cancer genome atlas UCEC (uterine corpus endometrioid carcinoma) RNA sequencing data set (n = 381). The expression of NQO1 was validated by immunohistochemistry in EC samples from a separate cohort (n = 91) comprised of consecutive patients who underwent hysterectomy at St Mary's Hospital, Manchester, between 2011 and 2013. A further 6 postmenopausal women with histologically normal endometrium who underwent hysterectomy for genital prolapse were also included. Informed consent and local ethics approval were obtained for the study.
RESULTS: We show for the first that NQO1 expression is significantly increased in the endometrium of women with PCOS and EC. Immunohistochemistry confirms significantly increased NQO1 protein expression in EC relative to nonmalignant endometrial tissue (P
METHODS: Computed tomography scans from 74 patients were retrospectively evaluated between January 2008 and December 2012. Pedicle perforations were classified by two types of grading systems. For medial, lateral, superior and inferior perforations: grade 0 - no violation; grade 1 - <2 mm; grade 2 - 2-4 mm and grade 3 - >4 mm. For anterior perforations: grade 0 - no violation; grade 1 - <4 mm; grade 2 - 4-6 mm and grade 3 - >6 mm.
RESULTS: There were 35 (47.3%) male and 39 (52.7%) female patients with a total 260 thoracic pedicle screws (T1-T6) analysed. There were 32 screw perforations which account to a perforation rate of 12.3% (11.2% grade 1, 0.7% grade 2 and 0.4% grade 3). None led to pedicle screw-related complications. The perforation rate was highest at T1 (33.3%, all grade 1 perforations), followed by T6 (14.5%) and T4 (14.0%).
CONCLUSION: Fluoroscopic guided percutaneous pedicle screws of the upper thoracic spine (T1-T6) are technically more demanding and carry potential risks of serious complications. Extra precautions need to be taken when fluoroscopic guided percutaneous pedicle screws are placed at T1 and T2 levels, due to high medial pedicular angulation and obstruction of lateral fluoroscopic images by the shoulder girdle and at T4-T6 levels, due to smaller pedicular width.
DESIGN: A multicenter, retrospective, descriptive cohort study.
SETTING: Ten multidisciplinary PICUs in Asia.
PATIENTS: All mechanically ventilated children meeting the Pediatric Acute Lung Injury Consensus Conference criteria for PARDS between 2009 and 2015.
INTERVENTIONS: None.
MEASUREMENTS AND MAIN RESULTS: Data on epidemiology, ventilation, adjunct therapies, and clinical outcomes were collected. Patients were followed for 100 days post diagnosis of PARDS. A total of 373 patients were included. There were 89 (23.9%), 149 (39.9%), and 135 (36.2%) patients with mild, moderate, and severe PARDS, respectively. The most common risk factor for PARDS was pneumonia/lower respiratory tract infection (309 [82.8%]). Higher category of severity of PARDS was associated with lower ventilator-free days (22 [17-25], 16 [0-23], 6 [0-19]; p < 0.001 for mild, moderate, and severe, respectively) and PICU free days (19 [11-24], 15 [0-22], 5 [0-20]; p < 0.001 for mild, moderate, and severe, respectively). Overall PICU mortality for PARDS was 113 of 373 (30.3%), and 100-day mortality was 126 of 317 (39.7%). After adjusting for site, presence of comorbidities and severity of illness in the multivariate Cox proportional hazard regression model, patients with moderate (hazard ratio, 1.88 [95% CI, 1.03-3.45]; p = 0.039) and severe PARDS (hazard ratio, 3.18 [95% CI, 1.68, 6.02]; p < 0.001) had higher risk of mortality compared with those with mild PARDS.
CONCLUSIONS: Mortality from PARDS is high in Asia. The Pediatric Acute Lung Injury Consensus Conference definition of PARDS is a useful tool for risk stratification.
OBJECTIVE: To collect evidence from published systematic reviews that have evaluated pharyngeal airway changes related to mandibular advancement with or without maxillary procedures.
METHODOLOGY: PubMed, EMBASE, Web of Science, and Cochrane Library were searched without limiting language or timeline. Eligible systematic reviews evaluating changes in pharyngeal airway dimensions and respiratory parameters after mandibular advancement with or without maxillary surgery were identified and included.
RESULTS: This overview has included eleven systematic reviews. Maxillomandibular advancement (MMA) increases linear, cross-sectional plane and volumetric measurements of pharyngeal airways significantly (p<0.0001), while reducing the apnea-hypopnea index (AHI) and the respiratory disturbance index (RDI) significantly (p<0.0001). Two systematic reviews included primary studies that have evaluated single-jaw mandibular advancement, but did not discuss their effect onto pharyngeal airways. Based on the included primary studies of those systematic reviews, single-jaw mandibular advancement was reported to significantly increase pharyngeal airway dimensions (p<0.05); however, conclusive long-term results were lacking.
CONCLUSION: MMA increases pharyngeal airway dimensions and is beneficial to patients suffering from OSA. However, more evidence is still needed to draw definite conclusion related to the effect of single-jaw mandibular advancement osteotomies on pharyngeal airways.