50 research outputs found
Maternal use of selective serotonin reuptake inhibitors during pregnancy is associated with Hirschsprung’s disease in newborns – a nationwide cohort study
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of functional enzymes that contribute to the degradation of glycosaminoglycans (GAGs). The progressive systemic deposition of GAGs results in multi-organ system dysfunction that varies with the particular GAG deposited and the specific enzyme mutation(s) present. Cardiac involvement has been reported in all MPS syndromes and is a common and early feature, particularly for those with MPS I, II, and VI. Cardiac valve thickening, dysfunction (more severe for left-sided than for right-sided valves), and hypertrophy are commonly present; conduction abnormalities, coronary artery and other vascular involvement may also occur. Cardiac disease emerges silently and contributes significantly to early mortality
Experience of parents who have suffered a perinatal death in two Spanish hospitals: a qualitative study
Background: Perinatal grief is a process that affects families in biological, psychological, social and spiritual terms. It is estimated that every year there are 2.7 million perinatal deaths worldwide and 4.43 deaths for every 1000 births in Spain. The aim of this study is to describe and understand the experiences and perceptions of parents who have suffered a perinatal death. Methods: A qualitative study based on Gadamer’s hermeneutic phenomenology. The study was conducted in two hospitals in the South of Spain. Thirteen mothers and eight fathers who had suffered a perinatal death in the 5 years prior to the study participated in this study. In-depth interviews were carried out for data collection. Inductive analysis was used to find themes based on the data. Results: Eight sub-themes emerged, and they were grouped into three main themes: ‘Perceiving the threat and anticipating the baby’s death: “Something is going wrong in my pregnancy”’; ‘Emotional outpouring: the shock of losing a baby and the pain of giving birth to a stillborn baby’; “We have had a baby”: The need to give an identity to the baby and legitimise grief’. Conclusion: The grief suffered after a perinatal death begins with the anticipation of the death, which relates to the mother’s medical history, symptoms and premonitions. The confirmation of the death leads to emotional shock, characterised by pain and suffering. The chance to take part in mourning rituals and give the baby the identity of a deceased baby may help in the grieving and bereavement process. Having empathy for the parents and notifying them of the death straightaway can help ease the pain. Midwives can help in the grieving process by facilitating the farewell rituals, accompanying the family, helping in honouring the memory of the baby, and supporting parents in giving the deceased infant an identity that makes them a family member
Cationic Host Defence Peptides:Potential as Antiviral Therapeutics
There is a pressing need to develop new antiviral treatments; of the 60 drugs currently available, half are aimed at HIV-1 and the remainder target only a further six viruses. This demand has led to the emergence of possible peptide therapies, with 15 currently in clinical trials. Advancements in understanding the antiviral potential of naturally occurring host defence peptides highlights the potential of a whole new class of molecules to be considered as antiviral therapeutics. Cationic host defence peptides, such as defensins and cathelicidins, are important components of innate immunity with antimicrobial and immunomodulatory capabilities. In recent years they have also been shown to be natural, broad-spectrum antivirals against both enveloped and non-enveloped viruses, including HIV-1, influenza virus, respiratory syncytial virus and herpes simplex virus. Here we review the antiviral properties of several families of these host peptides and their potential to inform the design of novel therapeutics
Optimal V̇O2max-to-mass ratio for predicting 15 km performance among elite male cross-country skiers
Tomas Carlsson,1,2 Magnus Carlsson,1,2 Daniel Hammarström,3 Bent R Rønnestad,3 Christer B Malm,2 Michail Tonkonogi1 1School of Education, Health and Social Studies, Dalarna University, Falun, 2Sports Medicine Unit, Umeå University, Umeå, Sweden; 3The Lillehammer Research Center for Medicine and Exercise Physiology, Lillehammer University College, Lillehammer, Norway Abstract: The aim of this study was 1) to validate the 0.5 body-mass exponent for maximal oxygen uptake (V̇O2max) as the optimal predictor of performance in a 15 km classical-technique skiing competition among elite male cross-country skiers and 2) to evaluate the influence of distance covered on the body-mass exponent for V̇O2max among elite male skiers. Twenty-four elite male skiers (age: 21.4±3.3 years [mean ± standard deviation]) completed an incremental treadmill roller-skiing test to determine their V̇O2max. Performance data were collected from a 15 km classical-technique cross-country skiing competition performed on a 5 km course. Power-function modeling (ie, an allometric scaling approach) was used to establish the optimal body-mass exponent for V̇O2max to predict the skiing performance. The optimal power-function models were found to be race speed = 8.83 • (V̇O2max m-0.53)0.66 and lap speed = 5.89 • (V̇O2max m-(0.49+0.018lap))0.43e0.010age, which explained 69% and 81% of the variance in skiing speed, respectively. All the variables contributed to the models. Based on the validation results, it may be recommended that V̇O2max divided by the square root of body mass (mL • min-1 • kg-0.5) should be used when elite male skiers’ performance capability in 15 km classical-technique races is evaluated. Moreover, the body-mass exponent for V̇O2max was demonstrated to be influenced by the distance covered, indicating that heavier skiers have a more pronounced positive pacing profile (ie, race speed gradually decreasing throughout the race) compared to that of lighter skiers. Keywords: allometric scaling, maximal oxygen uptake, cross-country skiing, pacin
Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation
The effects of a multi-ingredient supplement on markers of muscle damage and inflammation following downhill running in females
BACKGROUND: The effects of a multi-ingredient performance supplement (MIPS) on markers of inflammation and muscle damage, perceived soreness and lower limb performance are unknown in endurance-trained female athletes. The purpose of this study was to determine the impact of MIPS (NO-Shotgun®) pre-loaded 4 weeks prior to a single-bout of downhill running (DHR) on hsC-Reactive Protein (hsCRP), interleukin (IL)-6, creatine kinase (CK), muscle soreness, lower limb circumferences and performance. METHOD: Trained female runners (n = 8; 29 ± 5.9 years) (VO(2max): ≥ 50 ml(-1).kg(-1).min(-1), midfollicular phase (7-11 days post-menses) were randomly assigned in a double-blind manner into two groups: MIPS (n = 4) ingested one serving of NO Shotgun daily for 28 days prior to DHR and 30 min prior to all post-testing visits; Control (CON) (n = 4) consumed an isocaloric maltodextrin placebo in an identical manner to MIPS. hsCRP, IL-6, CK, perceived soreness, limb circumferences, and performance measures (flexibility, squat jump peak power) were tested on 5 occasions; immediately before (PRE), immediately post-DHR, 24, 48 and 72 h post-DHR. RESULTS: There were main effects of time for CK (p = 0.05), pain pressure threshold (right tibialis anterior (p = 0.010), right biceps femoris (p = 0.01), and left iliotibial band (ITB) (p = 0.05) across all time points), and maximum squat jump power (p = 0.04). Compared with 24 h post-DHR, maximum squat jump power was significantly lower at 48 h post-DHR (p = 0.05). Lower body perceived soreness was significantly increased at 24 h (p = 0.02) and baseline to 48 h (p = 0.02) post DHR. IL-6 peaked immediately post-DHR (p = 0.03) and hsCRP peaked at 24 h post-DHR (p = 0.06). Calculation of effect sizes indicated a moderate attenuation of hsCRP in MIPS at 72 h post-DHR. CONCLUSIONS: Consumption of MIPS for 4 weeks prior to a single bout of DHR attenuated inflammation three days post, but did not affect perceived soreness and muscle damage markers in endurance trained female runners following a single bout of DHR