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  • 1
    Online Resource
    Online Resource
    Metabolic equivalent: one size does not fit all
    American Physiological Society ; 2005
    In:  Journal of Applied Physiology Vol. 99, No. 3 ( 2005-09), p. 1112-1119
    Details
    In: Journal of Applied Physiology, American Physiological Society, Vol. 99, No. 3 ( 2005-09), p. 1112-1119
    Abstract: The metabolic equivalent (MET) is a widely used physiological concept that represents a simple procedure for expressing energy cost of physical activities as multiples of resting metabolic rate (RMR). The value equating 1 MET (3.5 ml O 2 ·kg −1 ·min −1 or 1 kcal·kg −1 ·h −1 ) was first derived from the resting O 2 consumption (V̇o 2 ) of one person, a 70-kg, 40-yr-old man. Given the extensive use of MET levels to quantify physical activity level or work output, we investigated the adequacy of this scientific convention. Subjects consisted of 642 women and 127 men, 18–74 yr of age, 35–186 kg in weight, who were weight stable and healthy, albeit obese in some cases. RMR was measured by indirect calorimetry using a ventilated hood system, and the energy cost of walking on a treadmill at 5.6 km/h was measured in a subsample of 49 men and 49 women (26–45 kg/m 2 ; 29–47 yr). Average V̇o 2 and energy cost corresponding with rest (2.6 ± 0.4 ml O 2 ·kg −1 ·min −1 and 0.84 ± 0.16 kcal·kg −1 ·h −1 , respectively) were significantly lower than the commonly accepted 1-MET values of 3.5 ml O 2 ·kg −1 ·min −1 and 1 kcal·kg −1 ·h −1 , respectively. Body composition (fat mass and fat-free mass) accounted for 62% of the variance in resting V̇o 2 compared with age, which accounted for only 14%. For a large heterogeneous sample, the 1-MET value of 3.5 ml O 2 ·kg −1 ·min −1 overestimates the actual resting V̇o 2 value on average by 35%, and the 1-MET of 1 kcal/h overestimates resting energy expenditure by 20%. Using measured or predicted RMR (ml O 2 ·kg −1 ·min −1 or kcal·kg −1 ·h −1 ) as a correction factor can appropriately adjust for individual differences when estimating the energy cost of moderate intensity walking (5.6 km/h).
    Type of Medium: Online Resource
    ISSN: 8750-7587 , 1522-1601
    URL: Article
    DOI: 10.1152/japplphysiol.00023.2004
    RVK:
    WA 15000
    RVK:
    XA 52094
    Language: English
    Publisher: American Physiological Society
    Publication Date: 2005
    detail.hit.zdb_id: 1404365-8
    SSG: 12
    SSG: 31
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  • 2
    Online Resource
    Online Resource
    Development and validation of anthropometric prediction equations for estimation of lean body mass and appendicular lean soft tissue in Indian men and women
    American Physiological Society ; 2013
    In:  Journal of Applied Physiology Vol. 115, No. 8 ( 2013-10-15), p. 1156-1162
    Details
    In: Journal of Applied Physiology, American Physiological Society, Vol. 115, No. 8 ( 2013-10-15), p. 1156-1162
    Abstract: Lean body mass (LBM) and muscle mass remain difficult to quantify in large epidemiological studies due to the unavailability of inexpensive methods. We therefore developed anthropometric prediction equations to estimate the LBM and appendicular lean soft tissue (ALST) using dual-energy X-ray absorptiometry (DXA) as a reference method. Healthy volunteers ( n = 2,220; 36% women; age 18-79 yr), representing a wide range of body mass index (14–44 kg/m 2 ), participated in this study. Their LBM, including ALST, was assessed by DXA along with anthropometric measurements. The sample was divided into prediction (60%) and validation (40%) sets. In the prediction set, a number of prediction models were constructed using DXA-measured LBM and ALST estimates as dependent variables and a combination of anthropometric indices as independent variables. These equations were cross-validated in the validation set. Simple equations using age, height, and weight explained 〉 90% variation in the LBM and ALST in both men and women. Additional variables (hip and limb circumferences and sum of skinfold thicknesses) increased the explained variation by 5–8% in the fully adjusted models predicting LBM and ALST. More complex equations using all of the above anthropometric variables could predict the DXA-measured LBM and ALST accurately, as indicated by low standard error of the estimate (LBM: 1.47 kg and 1.63 kg for men and women, respectively), as well as good agreement by Bland-Altman analyses (Bland JM, Altman D. Lancet 1: 307–310, 1986). These equations could be a valuable tool in large epidemiological studies assessing these body compartments in Indians and other population groups with similar body composition.
    Type of Medium: Online Resource
    ISSN: 8750-7587 , 1522-1601
    URL: Article
    DOI: 10.1152/japplphysiol.00777.2013
    RVK:
    WA 15000
    RVK:
    XA 52094
    Language: English
    Publisher: American Physiological Society
    Publication Date: 2013
    detail.hit.zdb_id: 1404365-8
    SSG: 12
    SSG: 31
    Location Call Number Limitation Availability
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  • 3
    Online Resource
    Online Resource
    Deep immune profiling of COVID-19 patients reveals distinct immunotypes with therapeutic implications
    American Association for the Advancement of Science (AAAS) ; 2020
    In:  Science Vol. 369, No. 6508 ( 2020-09-04)
    Details
    In: Science, American Association for the Advancement of Science (AAAS), Vol. 369, No. 6508 ( 2020-09-04)
    Abstract: Coronavirus disease 2019 (COVID-19) is currently a global pandemic, but human immune responses to the virus remain poorly understood. We used high-dimensional cytometry to analyze 125 COVID-19 patients and compare them with recovered and healthy individuals. Integrated analysis of ~200 immune and ~50 clinical features revealed activation of T cell and B cell subsets in a proportion of patients. A subgroup of patients had T cell activation characteristic of acute viral infection and plasmablast responses reaching 〉 30% of circulating B cells. However, another subgroup had lymphocyte activation comparable with that in uninfected individuals. Stable versus dynamic immunological signatures were identified and linked to trajectories of disease severity change. Our analyses identified three immunotypes associated with poor clinical trajectories versus improving health. These immunotypes may have implications for the design of therapeutics and vaccines for COVID-19.
    Type of Medium: Online Resource
    ISSN: 0036-8075 , 1095-9203
    URL: Article
    DOI: 10.1126/science.abc8511
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: American Association for the Advancement of Science (AAAS)
    Publication Date: 2020
    detail.hit.zdb_id: 128410-1
    detail.hit.zdb_id: 2066996-3
    detail.hit.zdb_id: 2060783-0
    SSG: 11
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  • 4
    Online Resource
    Online Resource
    Catalogue of inherited disorders found among the Irish Traveller population
    BMJ ; 2018
    In:  Journal of Medical Genetics Vol. 55, No. 4 ( 2018-04), p. 233-239
    Details
    In: Journal of Medical Genetics, BMJ, Vol. 55, No. 4 ( 2018-04), p. 233-239
    Abstract: Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population. Key clinicians and scientists with experience in managing rare disorders seen in this population have developed a de facto advisory service on differential diagnoses to consider when faced with specific clinical scenarios. Objective(s) To catalogue all known inherited disorders found in the Irish Traveller population. Methods We performed detailed literature and database searches to identify relevant publications and the disease mutations of known genetic disorders found in Irish Travellers. Results We identified 104 genetic disorders: 90 inherited in an autosomal recessive manner; 13 autosomal dominant and one a recurring chromosomal duplication. Conclusion We have collated our experience of inherited disorders found in the Irish Traveller population to make it publically available through this publication to facilitate a targeted genetic approach to diagnostics in this ethnic group.
    Type of Medium: Online Resource
    ISSN: 0022-2593 , 1468-6244
    URL: Article
    URL: Article
    DOI: 10.1136/jmedgenet-2017-104974
    DOI: 10.1136/jmedgenet-2017-104974.supp1
    RVK:
    WA 15000
    Language: English
    Publisher: BMJ
    Publication Date: 2018
    detail.hit.zdb_id: 2009590-9
    SSG: 12
    Location Call Number Limitation Availability
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  • 5
    Online Resource
    Online Resource
    Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia
    Oxford University Press (OUP) ; 2022
    In:  European Journal of Endocrinology Vol. 186, No. 4 ( 2022-04-01), p. 417-427
    Details
    In: European Journal of Endocrinology, Oxford University Press (OUP), Vol. 186, No. 4 ( 2022-04-01), p. 417-427
    Abstract: The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multicentre paediatric cohort of patients with HNF4A or HNF1A mutations presenting with HH over a 25-year period (1995–2020). Methods Clinical and genetic analysis data from five centres were obtained. Diazoxide responsiveness was defined as the ability to maintain normoglycaemia without intravenous glucose. Macrosomia was defined as a birth weight ≥90th centile. SPSS v.27.1 was used for data analysis. Results A total of 34 patients (70.6% female, n   = 24) with a mean age of 7.1 years ( s.d. 6.4) were included. A total of 21 different heterozygous HNF4A mutations were identified in 29 patients (four novels). Four different previously described heterozygous HNF1A mutations were detected in five patients. Most (97.1%, n   = 33) developed hypoglycaemia by day 2 of life. The mean birth weight was 3.8 kg ( s.d. 0.8), with most infants macrosomic ( n  = 21, 61.8%). Diazoxide was commenced in 28 patients (82.3%); all responded. HH resolved in 20 patients (58.8%) following a median of 0.9 years (interquartile range (IQR): 0.2–6.8). Nine patients ( n  = 9, 26.5%) had developmental delay. Two patients developed Fanconi syndrome (p.Arg63Trp, HNF4A ) and four had other renal or hepatic findings. Five (14.7%) developed MODY at a median of 11.0 years (IQR: 9.0–13.9). Of patients with inherited mutations ( n  = 25, 73.5%), a family history of diabetes was present in 22 (88.0%). Conclusions We build on the knowledge of the natural history and pancreatic and extra-pancreatic phenotypes of HNF4A/HNF1A mutations and illustrate the heterogeneity of this condition.
    Type of Medium: Online Resource
    ISSN: 0804-4643 , 1479-683X
    URL: Article
    DOI: 10.1530/EJE-21-0897
    RVK:
    WA 15000
    Language: Unknown
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1485160-X
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