Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency

BACKGROUND: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. However, comparison of screening outcomes has been hampered by use of disparate terminology and imprecise or variable case definitions for non-SCID conditions with T-cell lymphopenia. OBJECTIVES: This study sought to determine whether standardized screening terminology could overcome a Babylonian confusion and whether improved case definitions would promote international exchange of knowledge. METHODS: A systematic literature review highlighted the diverse terminology in SCID NBS programs internationally. While, as expected, individual screening strategies and tests were tailored to each program, we found uniform terminology to be lacking in definitions of disease targets, sensitivity, and specificity required for comparisons across programs. RESULTS: The study’s recommendations reflect current evidence from literature and existing guidelines coupled with opinion of experts in public health screening and immunology. Terminologies were aligned. The distinction between actionable and nonactionable T-cell lymphopenia among non-SCID cases was clarified, the former being infants with T-cell lymphopenia who could benefit from interventions such as protection from infections, antibiotic prophylaxis, and live-attenuated vaccine avoidance. CONCLUSIONS: By bringing together the previously unconnected public health screening community and clinical immunology community, these SCID NBS deliberations bridged the gaps in language and perspective between these disciplines. This study proposes that international specialists in each disorder for which NBS is performed join forces to hone their definitions and recommend uniform registration of outcomes of NBS. Standardization of terminology will promote international exchange of knowledge and optimize each phase of NBS and follow-up care, advancing health outcomes for children worldwide

Xenon Anesthesia Improves Respiratory Gas Exchanges in Morbidly Obese Patients

Background. Xenon-in-oxygen is a high density gas mixture and may improve PaO2/FiO2 ratio in morbidly obese patients uniforming distribution of ventilation during anesthesia. Methods. We compared xenon versus sevoflurane anesthesia in twenty adult morbidly obese patients (BMI > 35) candidate for roux-en-Y laparoscopic gastric bypass and assessed PaO2/FiO2 ratio at baseline, at 15 min from induction of anaesthesia and every 60 min during surgery. Differences in intraoperative and postoperative data including heart rate, systolic and diastolic pressure, oxygen saturation, plateau pressure, eyes opening and extubation time, Aldrete score on arrival to the PACU were compared by the Mann-Whitney test and were considered as secondary aims. Moreover the occurrence of side effects and postoperative analgesic demand were assessed. Results. In xenon group PaO2-FiO2 ratio was significantly higher after 60 min and 120 min from induction of anesthesia; heart rate and overall remifentanil consumption were lower; the eyes opening time and the extubation time were shorter; morphine consumption at 72 hours was lower; postoperative nausea was more common. Conclusions. Xenon anesthesia improved PaO2/FiO2 ratio and maintained its distinctive rapid recovery times and cardiovascular stability. A reduction of opioid consumption during and after surgery and an increased incidence of PONV were also observed in xenon group

Drug Testing for Newborn Exposure to Illicit Substances in Pregnancy: Pitfalls and Pearls

Estimates of the prevalence of drug usage during pregnancy vary by region and survey tool used. Clinicians providing care to newborns should be equipped to recognize a newborn who has been exposed to illicit drugs during pregnancy by the effects the exposure might cause at the time of delivery and/or by drug testing of the newborn. The purpose of this paper is to provide an overview of the literature and assess the clinical role of drug testing in the newborn. Accurate recognition of a newborn whose mother has used illicit drugs in pregnancy cannot only impact decisions for healthcare in the nursery around the time of delivery, but can also provide a key opportunity to assess the mother for needed services. While drug use in pregnancy is not an independent predictor of the mother's ability to provide a safe and nurturing environment for her newborn, other issues that often cooccur in the life of a mother with a substance abuse disorder raise concerns for the safety of the discharge environment and should be assessed. Healthcare providers in these roles should advocate for unbiased and effective treatment services for affected families

Central vault after phakic intraocular lens implantation : correlation with anterior chamber depth, white-to-white distance, spherical equivalent, and patient age

To compare the central postoperative vault of a phakic intraocular lens (pIOL) to correct myopia, myopic astigmatism, and hyperopia and identify ocular and lens parameters that might predict the vault amount.Supported in part by Ministerio de Ciencia e Innovacion research grants (SAF2008-01114 and SAF2009-13342) (Dr. Montes-Mico) and a Fundacao para a Ciencia e Tecnologia of Portugal grant (FCT-SFRH-BD-34303-2007) (Dr. Fernandes)

Incontinence, bladder neck mobility, and sphincter ruptures in primiparous women

<p>Abstract</p> <p>Objective</p> <p>To compare the function of the pelvic floor in primiparae before and during pregnancy with the status post partum concerning symptoms of incontinence, sphincter ruptures, bladder-neck mobility and the influence of the different modes of deliveries.</p> <p>Methods</p> <p>Questionnaire evaluating symptoms of urinary and anal incontinence in nulliparous women before and after delivery and correlating these symptoms with functional changes of the pelvic floor based on a careful gynaecologic examination as well as perineal and endoanal ultrasound.</p> <p>Results</p> <p>112 women were included in our study and came for the first visit, 99 women returned for follow-up 6 months after childbirth. Stress and flatus incontinence significantly increased from before pregnancy (3 and 12%) to after childbirth (21 and 28%) in women with spontaneous delivery or vacuum extraction. No new symptoms occurred after c-section. There was no significant difference between the bladder neck position before and after delivery. The mobility of the bladder neck was significantly higher after vaginal delivery using a vacuum extraction compared to spontaneous delivery or c-section.</p> <p>The bladder neck in women with post partum urinary stress incontinence was significantly more mobile than in continent controls. The endoanal ultrasound detected seven occult sphincter defects without any correlation to symptoms of anal incontinence.</p> <p>Conclusion</p> <p>Several statistically significant changes of the pelvic floor after delivery were demonstrated. Spontaneous vaginal delivery or vacuum extraction increases the risk for stress or anal incontinence, delivery with vacuum extraction leads to higher bladder neck mobility and stress incontinent women have more mobile bladder necks than continent women.</p

Autonomous corner modules as an enabler for new vehicle chassis solutions

Demands for new functions and refined attributes in vehicle dynamics areleading to more complex and more expensive chassis design. To overcome this, there hasbeen increasing interest in a novel chassis design that could be reused in the developmentprocess for new vehicle platforms and mainly allow functions to be regulated by software.The Autonomous Corner Module (ACM) was invented at Volvo Car Corporation (VCC) in1998. The invention is based upon actively controlled functions and distributed actuation. Themain idea is that the ACM should enable individual control of the functions of each wheel;propulsion/braking, alignment/steering and vertical wheel load. This is done by using hubmotorsand by replacing the lower control arm of a suspension with two linear actuators,allowing them to control steering and camber simultaneously. Along with activespring/damper and wheel motors, these modules are able to individually control each wheel\u27ssteering, camber, suspension and spin velocity. This provides the opportunity to replacemechanical drive, braking, steering and suspension with distributed wheel functions which, inturn, enable new vehicle architecture and design.The aim of this paper is to present the vehicle dynamic potential of the ACM solution, bydescribing its possible uses and relating them to previous research findings. Associated worksuggests chassis solutions where different fractions of the functions of the ACM capabilityhave been used to achieve benefits in vehicle dynamics. For instance, ideas on how to useactive camber control have been presented. Other studies have reported well-knownadvantages, such as, good transient yaw control from in-wheel motor propulsion and stablechassis behaviour from four-wheel steering, when affected by side wind. However, thistechnology also presents challenges. One example is how to control the relatively largeunsprung mass that occurs due to the extra weight from the in-wheel motor. The negativeinfluence from this source can be reduced by using active control of vertical forces. Theimplementation of ACM, or similar technologies, requires a well-structured hierarchy andcontrol strategy. Associated work suggests methods for chassis control, where tyre forces canbe individually distributed from a vehicle path description. The associated workpredominately indicates that the ACM introduces new opportunities and shows itself to be apromising enabler for vehicle dynamic functions

The whole story: treatment outcomes with Symbicort®

AbstractAsthma is a chronic inflammatory disorder of the airways that has a considerable socioeconomic impact. Asthma management guidelines have been introduced to help provide better long-term control of asthma. Although recommended guidelines may increase the direct medication costs, the overall direct costs of asthma may be reduced due to fewer exacerbations. In addition, indirect costs due to lost productivity and mortality are reduced and patients have an improved quality of life. Inhaled corticosteroids are first-line therapy in the treatment of persistent asthma. Against this background, we have assessed the cost-effectiveness of Symbicort® (budesonide and formoterol in a single inhaler), atreatmentthat provides better control of asthma compared with budesonide alone.While the prescribing costs of Symbicort® were found to be higher than for budesonide alone, these were partially offset by reduced costs due to fewer asthma exacerbations and a reduced need for other medications. Combined long-term therapy with budesonide and formoterol also improves patient quality of life compared with budesonide alone. Two other factors associated with asthma treatment success and cost-effectiveness are patient/physician education and good patient adherence to prescribed therapy. The introduction of a single inhaler that is easy to use in simple treatment regimens may improve patient adherence to prescribed medication, thus resulting in improved asthma control and fewer exacerbations.Treatment with Symbicort® is more cost-effective than treatment with budesonide alone

Poor glycemic control as a risk factor for pseudophakic cystoid macular edema in patients with diabetes

Purpose: To specify the risk factors for pseudophakic cystoid macular edema (CME) in patients with diabetes. Setting: Kymenlaakso Central Hospital, Unit of Ophthalmology, Kotka, Finland. Design: Prospective case series. Methods: Patients with type 1 or type 2 diabetes having routine cataract surgery were evaluated. Spectral-domain optical coherence tomography imaging was performed before surgery and 1 month postoperatively. Results: The study comprised 93 patients (95 eyes). The central retinal thickness increase was 9.7 mu m 1.7 (SEM) in diabetic patients with no retinopathy, 22.7 +/- 8.6 mu m in those who had nonproliferative retinopathy, and 73.8 +/- 37.4 mu m in those who had proliferative retinopathy (P Conclusions: Young patient age and poor glycemic control were risk factors for postoperative central retinal thickness increase. This study showed it is necessary to identify, effectively treat, and followup with patients with diabetes who are at a greater risk for pseudophakic CME. (C) 2017 ASCRS and ESCRSPeer reviewe

Prevalence and incidence of asthma related to waist circumference and BMI in a Swedish community sample

AbstractBoth asthma and obesity have become more common in affluent societies during the recent decades and several studies have shown a correlation between the presence of asthma and obesity.In order to further study this association we have investigated a population from a community in southern Sweden, where almost all inhabitants had their body indices measured as part of a study on diabetes at a primary care centre. An asthma unit working with a structured care programme for asthma was available. This organisation enabled us to study whether body mass index and waist circumference was associated with having or developing asthma.There was a significant association between both overweight, increased waist circumference and asthma, P<0.01. The risk for developing asthma was associated with increased body weight and abdominal circumference, P<0.05. The increase in asthma morbidity in the overweight subjects was found almost exclusively in the non-atopic asthma patients.This study confirms earlier findings of an increased prevalence of asthma in obese and overweight patients. Increased obesity and especially abdominal obesity is thus a risk factor for asthma, which probably contributes to the high prevalence of asthma in affluent societies