scholarly journals Developmental Trajectory of Height, Weight, and BMI in Children and Adolescents at Risk for Huntington’s Disease: Effect of mHTT on Growth

2020 ◽  
Vol 9 (3) ◽  
pp. 245-251
Author(s):  
Alexander Tereshchenko ◽  
Ellen van der Plas ◽  
Katherine D. Mathews ◽  
Eric Epping ◽  
Amy L. Conrad ◽  
...  

Background: The gene (Huntingtin or HTT) causing Huntington’s disease (HD) is vital for development and is expressed throughout the brain and body lifelong. The mutant form (mHTT) may influence growth and development. Objective: To determine the impact of mHTT on human measures of growth, including height, weight, and body mass index (BMI), between child and adolescent carriers of mHTT and control peers. Methods: Children ages 6–18 years of age (n = 186) at risk for HD were enrolled in the KidsHD study. For research purposes only, genetic testing was performed to classify participants as Gene-Expanded (GE = 78) or as Gene Non-Expanded (GNE = 108). Outcome measures included height, weight, and body mass index (BMI). Mixed models were used to determine if non-linear age trends differed between groups for BMI, height, and weight. Results: Differences were seen in the trajectory of BMI in which the GE group reached a plateau in late adolescence with no further increase, compared with a nearly linear increase in the GNE group. There was a significant sex interaction pattern where GE males were taller than GNE males in adolescence, in the presence of similar weight. In contrast, GE females weighed significantly less than their GNE counterparts in adolescence, in the presence of similar height. Conclusion: Measures of growth are abnormal in child and adolescent carriers of mHTT, decades before HD onset. Although further studies are needed for replication, the current findings suggest that developmental aberrations may be systemic and a vital part of disease pathology.

2016 ◽  
Vol 3 (5) ◽  
pp. 452-459
Author(s):  
Esther Cubo ◽  
Jessica Rivadeneyra ◽  
Natividad Mariscal ◽  
Asunción Martinez ◽  
Diana Armesto ◽  
...  

2020 ◽  
Vol 3 (2) ◽  
pp. 15
Author(s):  
Kanako Eiwa ◽  
Naomi Nakayama ◽  
Yumi Takami ◽  
Shuko Iwasaki ◽  
Yoshinori Hino ◽  
...  

Background: Home-based medical care is expanding rapidly in Japan.Objectives: We aimed to identify the factors associated with outcomes of therapy in patients receiving home-visit rehabilitation.Methods: One hundred twenty-one patients receiving home-based rehabilitation were investigated. Nutritional status was assessed by the Mini Nutritional Assessment Short Form (MNA-SF). The Functional Independence Measure (FIM) was employed to assess the activities of daily living (ADL). The body mass index (BMI), medical history, and orthopedic disease-related pain were also recorded. The primary outcome was the improvement in FIM scores in one year.Results: A total of 19 (17%) patients were malnourished and 58 (48%) were at risk of malnutrition. Malnourished patients had a lower FIM score at initiation than those at risk of malnutrition or with normal nutritional status. Only changes in patients’ BMI and MNA-SF scores over one year were significantly associated with improved FIM scores (p = 0.0079 and p = 0.0049, respectively). No association was noted with the other factors.Conclusions: This is the first report to demonstrate that changes in MNA-SF scores and BMI are significantly associated with rehabilitation outcomes in home-based care. Nutritional management is essential along with rehabilitation to improve ADL in the long-term home care setting.


2016 ◽  
Vol 119 ◽  
pp. S558
Author(s):  
L. Pettit ◽  
A. Welsh ◽  
C. Puzey-Kibble ◽  
M. Williams ◽  
J. Santos ◽  
...  

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 2-3
Author(s):  
Dai Chihara ◽  
Melissa C. Larson ◽  
Dennis P. Robinson ◽  
Carrie A. Thompson ◽  
Matthew J. Maurer ◽  
...  

Background: Obesity is increasing worldwide, with the highest prevalence in the United States. High or low body mass index (BMI) is a well-established risk factor for increased all-cause mortality and also has been associated with cancer-specific mortality. However, the impact of BMI on survival following diagnosis with lymphoma currently remains controversial. We leveraged a prospective cohort of lymphoma patients to assess the relationship of BMI two years prior to diagnosis (BMI-2), at diagnosis (BMI-dx), and three-years post-diagnosis (BMI+3) with lymphoma-specific survival (LSS) as the primary endpoint and with event-free survival (EFS) and overall survival (OS) as secondary endpoints. Patient and Method: Patients were prospectively enrolled at lymphoma diagnosis to the SPORE Molecular Epidemiology Resource (MER) cohort at Mayo Clinic and University of Iowa from 2002-2015. BMI-2 and BMI+3 were self-reported in patient questionnaires, while BMI-dx was extracted from the medical chart. Patients with extreme BMI (BMI <14 and BMI ≥50) were excluded from the analysis. BMI change from BMI-2 to BMI-dx and from BMI-dx to BMI+3 was categorized as no change (-5% to 5%), decrease (>-5%), and increase (>+5%). Person-time at risk was assessed from lymphoma diagnosis until death or last follow-up, except for analyses of BMI change from BMI-dx to BMI+3, which started person-time at risk when the 3-year (+/- 6 months) follow-up questionnaire was returned. Cause of death was assigned by a study clinician. For all lymphoma patients combined and in the most common subtypes, we evaluated the association of BMI at each time point and change in BMI with EFS, LSS, and OS using hazard ratios (HRs) and 95% confidence intervals (CI) from multivariable adjusted Cox models. Results: A total of 4,009 lymphoma patients (including 670 diffuse large B-cell lymphoma [DLBCL], 689 follicular lymphoma [FL] and 1018 chronic lymphocytic leukemia/small lymphocytic lymphoma [CLL/SLL] and 1,632 others) with data on BMI-dx were included. Among them, 2,955 patients had BMI-2 and 2,004 had BMI+3 and were evaluable for change in BMI. The median age of all patients at diagnosis was 61 years (range 18-92 years), and 94% of patients had ECOG performance status <2. At the time of diagnosis, 28% were normal weight (BMI 18.5-25), 1% were underweight (BMI <18.5), 39% were overweight (BMI 25-30) and 32% were obese (BMI ≥30). With a median follow-up of 108 months from diagnosis (IQR 83-143 months), 1320 deaths were observed, 48% of which were due to lymphoma. Patients with FL who were obese at BMI-2 had significantly shorter LSS (HR: 3.02, 95%CI: 1.43-6.41, p=0.004). Associations between obesity at BMI-2 and LSS were not evident for DLBCL (HR: 1.04, 95%CI: 0.62-1.76, p=0.879) or CLL/SLL (HR: 1.10, 95%CI: 0.71-1.70, p=0.668) (Table). BMI-dx was not associated with LSS in any lymphoma patients, except that DLBCL patients who were underweight at BMI-dx (n=10) experienced shorter LSS (HR: 3.52, 95%CI: 1.22-10.1, p=0.020). This correlated significantly with presence of B symptoms (p=0.004) and may signify aggressive disease. Across all subtypes, >5% decrease in BMI from BMI-2 to BMI-dx was associated with significantly shorter LSS in patients with (HR: 2.02, 95%CI: 1.65-2.48, p<0.001). However, only for FL patients, >5% increase in BMI from BMI-dx to BMI+3 also was associated with significantly shorter LSS in subsequent years (HR: 3.74, 95%CI: 1.30-10.8, p=0.014). The associations reported for LSS generally were similar for EFS and OS. Conclusions: FL patients with obesity prior to diagnosis or who experienced increasing BMI after the diagnosis had significantly shorter LSS. The impact of weight control after the diagnosis of FL patient outcomes warrants investigation. Figure Disclosures Maurer: Celgene / BMS: Research Funding; Kite: Membership on an entity's Board of Directors or advisory committees; Morphosys: Membership on an entity's Board of Directors or advisory committees; Nanostring: Research Funding; Pfizer: Membership on an entity's Board of Directors or advisory committees. Flowers:Leukemia and Lymphoma Society: Membership on an entity's Board of Directors or advisory committees; Denovo Biopharma: Consultancy; Celgene: Consultancy, Research Funding; BeiGene: Consultancy; Kite: Research Funding; Bayer: Consultancy; Eastern Cooperative Oncology Group: Research Funding; Cancer Prevention and Research Institute of Texas: Research Funding; National Cancer Institute: Research Funding; AbbVie: Consultancy, Research Funding; V Foundation: Research Funding; TG Therapeutics: Research Funding; Burroughs Wellcome Fund: Research Funding; Millennium/Takeda: Consultancy, Research Funding; Acerta: Research Funding; Spectrum: Consultancy; Pharmacyclics/Janssen: Consultancy; Karyopharm: Consultancy; OptumRx: Consultancy; Gilead: Consultancy, Research Funding; Genentech, Inc./F. Hoffmann-La Roche Ltd: Consultancy, Research Funding. Cerhan:NanoString: Research Funding; BMS/Celgene: Research Funding.


2015 ◽  
Vol 4 (3) ◽  
pp. 231-238 ◽  
Author(s):  
Alexander Tereshchenko ◽  
Michael McHugh ◽  
Jessica K. Lee ◽  
Pedro Gonzalez-Alegre ◽  
Kaitlin Crane ◽  
...  

2020 ◽  
Vol 32 (4) ◽  
pp. 523-532 ◽  
Author(s):  
Praveen V. Mummaneni ◽  
Mohamad Bydon ◽  
John Knightly ◽  
Mohammed Ali Alvi ◽  
Anshit Goyal ◽  
...  

OBJECTIVEDischarge to an inpatient rehabilitation facility or another acute-care facility not only constitutes a postoperative challenge for patients and their care team but also contributes significantly to healthcare costs. In this era of changing dynamics of healthcare payment models in which cost overruns are being increasingly shifted to surgeons and hospitals, it is important to better understand outcomes such as discharge disposition. In the current article, the authors sought to develop a predictive model for factors associated with nonroutine discharge after surgery for grade I spondylolisthesis.METHODSThe authors queried the Quality Outcomes Database for patients with grade I lumbar degenerative spondylolisthesis who underwent a surgical intervention between July 2014 and June 2016. Only those patients enrolled in a multisite study investigating the impact of fusion on clinical and patient-reported outcomes among patients with grade I spondylolisthesis were evaluated. Nonroutine discharge was defined as those who were discharged to a postacute or nonacute-care setting in the same hospital or transferred to another acute-care facility.RESULTSOf the 608 patients eligible for inclusion, 9.4% (n = 57) had a nonroutine discharge (8.7%, n = 53 discharged to inpatient postacute or nonacute care in the same hospital and 0.7%, n = 4 transferred to another acute-care facility). Compared to patients who were discharged to home, patients who had a nonroutine discharge were more likely to have diabetes (26.3%, n = 15 vs 15.7%, n = 86, p = 0.039); impaired ambulation (26.3%, n = 15 vs 10.2%, n = 56, p < 0.001); higher Oswestry Disability Index at baseline (51 [IQR 42–62.12] vs 46 [IQR 34.4–58], p = 0.014); lower EuroQol-5D scores (0.437 [IQR 0.308–0.708] vs 0.597 [IQR 0.358–0.708], p = 0.010); higher American Society of Anesthesiologists score (3 or 4: 63.2%, n = 36 vs 36.7%, n = 201, p = 0.002); and longer length of stay (4 days [IQR 3–5] vs 2 days [IQR 1–3], p < 0.001); and were more likely to suffer a complication (14%, n = 8 vs 5.6%, n = 31, p = 0.014). On multivariable logistic regression, factors found to be independently associated with higher odds of nonroutine discharge included older age (interquartile OR 9.14, 95% CI 3.79–22.1, p < 0.001), higher body mass index (interquartile OR 2.04, 95% CI 1.31–3.25, p < 0.001), presence of depression (OR 4.28, 95% CI 1.96–9.35, p < 0.001), fusion surgery compared with decompression alone (OR 1.3, 95% CI 1.1–1.6, p < 0.001), and any complication (OR 3.9, 95% CI 1.4–10.9, p < 0.001).CONCLUSIONSIn this multisite study of a defined cohort of patients undergoing surgery for grade I spondylolisthesis, factors associated with higher odds of nonroutine discharge included older age, higher body mass index, presence of depression, and occurrence of any complication.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
So-Ryoung Lee ◽  
Kyung-Do Han ◽  
Eue-Keun Choi ◽  
Seil Oh ◽  
Gregory Y. H. Lip

AbstractWe evaluated the association between nonalcoholic fatty liver disease (NAFLD) and incident atrial fibrillation (AF) and analyzed the impact of NAFLD on AF risk in relation to body mass index (BMI). A total of 8,048,055 subjects without significant liver disease who were available fatty liver index (FLI) values were included. Subjects were categorized into 3 groups based on FLI: < 30, 30 to < 60, and ≥ 60. During a median 8-year of follow-up, 534,442 subjects were newly diagnosed as AF (8.27 per 1000 person-years). Higher FLI was associated with an increased risk of AF (hazard ratio [HR] 1.053, 95% confidence interval [CI] 1.046–1.060 in 30 ≤ FLI < 60, and HR 1.115, 95% CI 1.106–1.125 in FLI ≥ 60). In underweight subjects (BMI < 18.5 kg/m2), higher FLI raised the risk of AF (by 1.6-fold in 30 ≤ FLI < 60 and by twofold in FLI ≥ 60). In normal- and overweight subjects, higher FLI was associated with an increased risk of AF, but the HRs were attenuated. In obese subjects, higher FLI was not associated with higher risk of AF. NAFLD as assessed by FLI was independently associated with an increased risk of AF in nonobese subjects with BMI < 25 kg/m2. The impact of NAFLD on AF risk was accentuated in lean subjects with underweight.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Barbara Iyen ◽  
Stephen Weng ◽  
Yana Vinogradova ◽  
Ralph K. Akyea ◽  
Nadeem Qureshi ◽  
...  

Abstract Background Although obesity is a well-recognised risk factor for cardiovascular disease (CVD), the impact of long-term body mass index (BMI) changes in overweight or obese adults, on the risk of heart failure, CVD and mortality has not been quantified. Methods This population-based cohort study used routine UK primary care electronic health data linked to secondary care and death-registry records. We identified adults who were overweight or obese, free from CVD and who had repeated BMI measures. Using group-based trajectory modelling, we examined the BMI trajectories of these individuals and then determined incidence rates of CVD, heart failure and mortality associated with the different trajectories. Cox-proportional hazards regression determined hazards ratios for incident outcomes. Results 264,230 individuals (mean age 49.5 years (SD 12.7) and mean BMI 33.8 kg/m2 (SD 6.1)) were followed-up for a median duration of 10.9 years. Four BMI trajectories were identified, corresponding at baseline, with World Health Organisation BMI classifications for overweight, class-1, class-2 and class-3 obesity respectively. In all four groups, there was a small, stable upwards trajectory in BMI (mean BMI increase of 1.06 kg/m2 (± 3.8)). Compared with overweight individuals, class-3 obese individuals had hazards ratios (HR) of 3.26 (95% CI 2.98–3.57) for heart failure, HR of 2.72 (2.58–2.87) for all-cause mortality and HR of 3.31 (2.84–3.86) for CVD-related mortality, after adjusting for baseline demographic and cardiovascular risk factors. Conclusion The majority of adults who are overweight or obese retain their degree of overweight or obesity over the long term. Individuals with stable severe obesity experience the worst heart failure, CVD and mortality outcomes. These findings highlight the high cardiovascular toll exacted by continuing failure to tackle obesity.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
K Giesinger ◽  
JM Giesinger ◽  
DF Hamilton ◽  
J Rechsteiner ◽  
A Ladurner

Abstract Background Total knee arthroplasty is known to successfully alleviate pain and improve function in endstage knee osteoarthritis. However, there is some controversy with regard to the influence of obesity on clinical benefits after TKA. The aim of this study was to investigate the impact of body mass index (BMI) on improvement in pain, function and general health status following total knee arthroplasty (TKA). Methods A single-centre retrospective analysis of primary TKAs performed between 2006 and 2016 was performed. Data were collected preoperatively and 12-month postoperatively using WOMAC score and EQ-5D. Longitudinal score change was compared across the BMI categories identified by the World Health Organization. Results Data from 1565 patients [mean age 69.1, 62.2% women] were accessed. Weight distribution was: 21.2% BMI < 25.0 kg/m2, 36.9% BMI 25.0–29.9 kg/m2, 27.0% BMI 30.0–34.9 kg/m2, 10.2% BMI 35.0–39.9 kg/m2, and 4.6% BMI ≥ 40.0 kg/m2. All outcome measures improved between preoperative and 12-month follow-up (p < 0.001). In pairwise comparisons against normal weight patients, patients with class I-II obesity showed larger improvement on the WOMAC function and total score. For WOMAC pain improvements were larger for all three obesity classes. Conclusions Post-operative improvement in joint-specific outcomes was larger in obese patients compared to normal weight patients. These findings suggest that obese patients may have the greatest benefits from TKA with regard to function and pain relief one year post-op. Well balanced treatment decisions should fully account for both: Higher benefits in terms of pain relief and function as well as increased potential risks and complications. Trial registration This trial has been registered with the ethics committee of Eastern Switzerland (EKOS; Project-ID: EKOS 2020–00,879)


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