Regression In Function Research Articles

Effects of detraining on neuromuscular function and structural adaptations following once- or twice-weekly eccentric resistance training in older adults

BackgroundEccentric resistance training elicits greater preservation of training-induced muscular adaptations compared with other training modalities, however the detraining profiles of different training dosages remain unknown.AimsTo examine the detraining effects following once- or twice-weekly eccentric-specific resistance training in older adults.MethodsTwenty-one older adults (age = 70.5 ± 6.0 year) completed a 12-week detraining period following the 12-week eccentric training programmes with neuromuscular function and muscle structure assessed six (mid-detraining) and 12 (post-detraining) weeks following training cessation.ResultsFrom post-training to post-detraining, no significant regression of the training-induced improvements (collapsed group data reported) occurred in power (0%), strength (eccentric = 0%, isometric = 39%), or explosive strength over numerous epochs (0–32%), resulting in values that remained significantly greater than at pre-training. However, significant regression in the improvements in muscle thickness (91%) and fascicle angle (100%) occurred, resulting in values that were not significantly greater than pre-training.DiscussionThe limited regression in neuromuscular function following a 12-week detraining period has important implications for supporting eccentric exercise prescription in older adults who often face periods of inactivity. However, further work is required to develop an effective maintenance dosage strategy that preserves improvements in muscle structure.ConclusionsEccentric resistance training elicits improvements in the neuromuscular function of older adults, which are sustained for at least 12 weeks after eccentric training cessation.

Age-related changes in serum anti-Müllerian hormone in women of reproductive age in Kenya

Background. Anti-Müllerian hormone (AMH) is produced by the granulosa cells of ovarian antral follicles and plays a role in therecruitment of dominant follicles during folliculogenesis. The serum level of AMH is proportional to the number of developing folliclesin the ovaries and reflects ovarian reserve. Nomograms of AMH variation with age exist from Caucasian populations, but there are none drawn from local African data.Objectives. To establish age-specific median serum AMH levels in an unselected East African population of women of reproductive age.Methods. We retrospectively analysed data on 1 718 women who underwent AMH testing using the Beckman Coulter AMH Gen IIenzyme-linked immunosorbent assay during the period 2015 - 2019 at Aga Khan University Hospital, Nairobi, Kenya. Age-specific median AMH levels were derived and presented in 5-year age bands. AMH levels were then log-transformed and, using linear regression in a natural spline function, presented on a scatter plot to demonstrate variation across reproductive age.Results. The median (interquartile range (IQR)) age of women who were tested for AMH was 38 (19 - 49) years. For the study population, the median (IQR) serum AMH level was 0.87 (0.01 - 17.10) ng/mL. The AMH concentration was inversely related to age, with a progressive decline whereby an increase of 1 year resulted in a corresponding decrease in AMH of 0.18 ng/mL. The proportion of women with decreased ovarian reserve increased exponentially with age from 14.9% in those aged 20 - 24 years to 48.7% at 35 - 39 years.Conclusion. From a large dataset of mainly black African women, this study confirms that serum AMH declines with advancing age,as reported elsewhere in Caucasian populations. There was, however, a higher than expected number of women with diminished ovarian reserve for age. Future studies prospectively exploring ovarian reserve in the general population could unravel underlying biological, reproductive and environmental factors that may influence AMH levels and reproductive capacity in this indigenous population.

Physics-informed machine learning methods for biomass gasification modeling by considering monotonic relationships

Machine learning methods have recently shown a broad application prospect in biomass gasification modeling. However, a significant drawback of the machine learning approaches is their poor physical interpretability when relying on limited experimental data. In the present work, a physics-informed neural network method (PINN) is developed to predict biomass gasification products (N2, H2, CO, CO2, and CH4). PINN simultaneously considers regression, structure, and physical monotonicity constraints in the loss function, providing physically feasible predictions. Specifically, the PINN models have outperformed prediction capability (average test R2 0.91–0.97) compared to five other machine learning methods through 50 times random sample classifications. Furthermore, it is demonstrated that the developed models can maintain correct monotonicity even if the feedstock characteristics or gasification conditions are outside the training data. By using a reliable physical mechanism to guide machine learning, the model can ensure better generalizability and scientific interpretability.

Adaptively robust geographically weighted regression

We develop a new robust geographically weighted regression method in the presence of outliers. We embed the standard geographically weighted regression in robust objective function based on γ-divergence. A novel feature of the proposed approach is that two tuning parameters that control robustness and spatial smoothness are automatically tuned in a data-dependent manner. Further, the proposed method can produce robust standard error estimates and give us a reasonable quantity for local outlier detection. We demonstrate that the proposed method is superior to the existing robust geographically weighted regression through simulation and data analysis.

The relationship between the degree of brain edema regression and changes in cognitive function in patients with recurrent glioma treated with bevacizumab and temozolomide.

This retrospective study aims to assess the impacts on cognitive status and quality of life in recurrent high-grade glioma patients treated with temozolomide (TMZ), either alone or in combination with bevacizumab (BEV), and explore the relationship between the brain edema regression, BEV use, and cognitive status. A total of 125 patients with recurrent high-grade glioma were enrolled in this study, of which 65 patients were treated with BEV (5-10 mg/kg IV every 2 weeks) plus TMZ (200 mg/m2 every 28 days, d1-5), and 60 patients were treated with TMZ (200 mg/m2 every 28 days, d1-5) alone. The treatment response was evaluated using the Response Assessment in Neuro-Oncology (RANO) criteria. Tumor-associated edema was evaluated with T2WI magnetic resonance imaging (MRI) and quantitative T2 mapping sequence, and an Edema Regression Index was designed to quantify volumetric changes in edema imaging after every treatment cycle. Cognitive intelligence state and quality of life were evaluated using the Mini-Mental State Examination (MMSE) and the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (QLQ-C30). Radiologically, the partial response rate was 78.5% in the BEV + TMZ group and 38.3% in the TMZ group. After the first cycle of treatment, the mean score of the MMSE was 21.1±2.0 and 24.1±1.4 (P<0.001) in the TMZ group and the BEV + TMZ group, respectively. In the functioning domains of the QLQ-C30, scales of physical functioning, emotional functioning and cognitive functioning were 43.0±7.0 vs. 61.7±12.5 (P<0.001), 44.5±8.8 vs. 63.4±6.9 (P<0.001) and 42.4±8.8 vs. 63.7±12.0 (P<0.001) in the TMZ group and the BEV + TMZ group, respectively. In the BEV + TMZ group, a correlation between the Edema Regression Index and improvement in cognitive status and quality of life was observed. Patients with Edema Regression Index scores higher than 50% gained a 25.6% increase in the mean MMSE score from 19.9±1.6 to 25.0±1.1 (P<0.001). In the BEV + TMZ group, physical functioning, emotional functioning, and cognitive functioning increased by 76.8%, 53.1%, and 81.5%, respectively, while scores of nausea/vomiting decreased by 40.3% to 32.1. Patients with no evident edema observed in the pre-BEV MRI scans were given a prolonged four-cycle course of BEV. No significant improvement was observed in the MMSE score and the QLQ score with additional cycles of BEV. A close relationship was observed between Edema Regression Index and a change in cognitive function in patients treated with BEV and TMZ. Compared with TMZ alone, the combination of TMZ and BEV could improve the cognitive function and quality of life of patients with recurrent high-grade gliomas. The Edema Regression Index could be used as a surrogate imaging biomarker to predict patients who may or may not gain cognitive benefit from the combination therapy of TMZ and BEV, which warrants further prospective clinical studies for validation.

Contemporary Outcomes after Durable Left Ventricular Assist Device Explantation in Patients with Evidence of Cardiac Recovery

<h3>Purpose</h3> In patients with durable left ventricular assist devices, cardiac recovery allowing device explanation is a rare and poorly understood phenomenon. The aim of this study was to describe the clinical features and outcomes of patients with cardiac recovery who underwent LVAD explantation or decommission with no formal recovery protocol at two large academic medical centers. <h3>Methods</h3> We identified all patients with nonischemic cardiomyopathy (NICM) with a continuous flow durable LVAD implanted at two centers through 2017 who had evidence of cardiac recovery as determined by a multidisciplinary assessment of cardiac surgeons and heart failure specialists, and underwent either explant of the LVAD or its decommission (turned off but left in-situ). Clinical, laboratory, echocardiographic features, and outcomes were analyzed. <h3>Results</h3> Twenty individuals met entry criteria. Indications for LVAD explant/decommission included pump thrombosis (45%, N=9/20), driveline infection (30%, N=6/20), or cardiac recovery without concurrent LVAD complication (25%, N=5/20). The average age at LVAD explant/decommission was 41±13 years and the median duration of support was 656 (265-1,089) days. The average left ventricular ejection fraction (LVEF) was 13±4% at implant, 45±11% at explant/decommission, and 32±18% at last-follow-up. There were 4 deaths (3 within 369 days) and 5 LVAD reimplantations (4 within 16 days and 1 at 62 days) over 12,986 person-days of follow-up after explant/decommission. Only 15% of the total cohort (N=3/20) had sustained LVEF recovery (Figure). <h3>Conclusion</h3> A minority of patients with NICM who had evidence of cardiac recovery allowing LVAD explant/decommission maintained their improved function. In nearly one-half of patients, regression in cardiac function was catastrophic and resulted in death or required reimplantation of a durable LVAD. These observations highlight the need to better define predictors allowing safe withdrawal of durable LVAD support.

Delirium and Functional Recovery in Patients Discharged to Skilled Nursing Facilities After Hospitalization for Heart Failure

A substantial number of patients discharged to skilled nursing facilities (SNFs) after heart failure (HF) hospitalization experience regression in function or do not improve. Delirium is one of few modifiable risk factors in this patient population. Therefore, understanding the role of delirium in functional recovery may be useful for improving outcomes. To assess the association of delirium with 30-day functional improvement in patients discharged to SNFs after HF hospitalization. This retrospective cohort study included patients hospitalized for HF in 129 US Department of Veterans Affairs hospitals who were discharged to SNFs from October 1, 2010, to September 30, 2015. Data were analyzed from June 14 to December 18, 2020. Delirium, as determined by the Minimum Data Set (MDS) 3.0 Confusion Assessment Method, with dementia as a covariate, determined via International Classification of Diseases, Ninth Revision (ICD-9) coding. The difference between admission and 30-day MDS 3.0 Activities of Daily Living (ADL) scores. A total of 20 495 patients (mean [SD] age, 78 [10.3] years; 78.9% White; and 97% male) were included in the analysis. Of the total sample, 882 patients (4.3%) had delirium on an SNF admission. The mean (SD) baseline ADL score on admission to SNF was significantly worse among patients with delirium than without (18.3 [4.7] vs 16.1 [5.2]; P < .001; d = 0.44.). On the 30-day repeated assessment, mean (SD) function (ADL scores) improved for both patients with delirium (0.6 [2.9]) and without delirium (1.8 [3.6]) (P < .001; d = -0.38). In the multivariate adjusted model, delirium was associated with statistically significant lower ADL improvement (difference in ADL score, -1.07; 95% CI, -1.31 to -0.83; P < .001). In this retrospective cohort study, patients with HF discharged to SNFs with delirium were less likely to show improvement in function compared with patients without delirium. Findings suggest a potential need to reexamine how and when health care professionals assess delirium in HF patients throughout their hospitalization and SNF course. Identifying and treating delirium for HF patients earlier in their care trajectory may play an important role in improving care and long-term functional outcomes in this population. Future research is warranted to further investigate the association between delirium and functional recovery for HF and other patient populations.

Semiparametric method and theory for continuously indexed spatio-temporal processes

Spatio-temporal processes with a continuous index in space and time are useful for modeling spatio-temporal data in many scientific disciplines such as environmental and health sciences. However, approaches that enable simultaneous estimation of the mean and covariance functions for such spatio-temporal processes are limited. Here, we propose a flexible spatio-temporal model with partially linear regression in the mean function and local stationarity in the covariance function. We develop a profile likelihood method for estimation and an effective bandwidth selection in the presence of spatio-temporally correlated errors. Specifically, we employ a family of bimodal kernels to alleviate bias, which may be of independent interest for semiparametric spatial statistics. The theoretical properties of our profile likelihood estimation, including consistency and asymptotic normality, are established. A simulation study is conducted and suggests sound empirical properties, while a health hazard data example further illustrates the methodology.

The effect of intra-articular ozone injection on pain and physical function in knee osteoarthritis: A prospective study

Introduction: This study aims to evaluate the effect of intra-articular ozone treatment on pain and physical functionality by measuring Numerical Pain Rating Scale (NRS), WOMAC Osteoarthritis Index (WOMAC-OI), and Active Joint Range of Motion (AROM) in patients diagnosed with osteoarthritis. Material and methods: A total of 30 patients diagnosed with stage 2-3 osteoarthritis according to the Kellgren-Lawrence Classification System (K-L) were included in the study. Ozone gas was administered (10 ml of 10 mcg/ml per session) twice weekly for a total of four sessions. AROM examination was performed at pre-treatment baseline (BL), post-treatment (PT), and two weeks after treatment (PT2). During these periods, NRS was assessed and WOMAC-OI questionnaire was administered. Results: Significant improvement in NRS and WOMAC-OI total index scores were observed at PT and PT2 periods compared to BL (6.9±1.2; 2.1±1.3; 3.3±1.1; WOMAC-OI total index: 48.1±10.1; 25.5±10.4; 29.1±11.1 respectively; p˂0.001 for all). However, in both of these evaluation methods, the recovery at PT2 had decreased compared to the PT period (NRS p˂0.001; WOMAC-OI p˂0.05). Significant improvement was observed in the AROM values measured during the PT and PT2 periods, compared to baseline (105.6 ± 10.4°; 118.8 ± 8.1°; 117.5 ± 9.2°, respectively) (p˂0.001). There was no difference between the PT and PT2 periods in terms of AROM measurements (p˃0.05). Conclusion: Our study demonstrates that intra-articular ozone injection treatment provides improvement in pain and physical functionality in osteoarthritis patients. In our two-month follow-up assessment, although evaluation methods indicated that there was regression in recovery, AROM measurements showed that there was no regression in function. Therefore, we believe that future studies may include AROM as an objective measurement among evaluation methods.

Dog Ear Regression in Function of Skin Elasticity.

Dog Ear Regression in Function of Skin Elasticity.

Follow-up and genetic study of 43 Chinese children with type Ⅰ Alexander disease

Objective: To identify the clinical and genetic characteristics in 43 Chinese children diagnosed with type Ⅰ Alexander disease (AxD). Method: Forty-three type Ⅰ AxD cases identified by glial fibrillary acidic protein (GFAP) gene mutations in Peking University First Hospital from 2005 to 2016 were followed up. The data of medical history, physical examination and magnetic resonance imaging (MRI) were collected. All these patients were followed up in December 2010, Febury 2012, June 2014 and January 2016, respectively. Result: Forty-three patients were genetically confirmed as type I AxD and the median age at the last visit was 11.71 years (10.27, 13.15). The characteristic clinical manifestations of these type Ⅰ AxD patients were developmental delay (79%, 34/43), seizures (86%, 37/43), macrocephaly (the median percentile of head circumference is 90%), and paroxysmal deterioration (27%, 13/43). All the 43 patients' brain MRI satisfied typical MRI features proposed by van der Knaap. According to the analysis of the long-term follow-up, patients with type Ⅰ AxD began to have obvious regression in motor function after 7 years of age, and the social life ability was milally impaired 8(6, 10)scores at the last follow-up. Seventeen heterozygous missense mutations of GFAP were identified in 43 genetically confirmed patients, and 4 mutations were novel. The mutations in 41 patients (95%, 41/43) were de novo. Three hot spots of mutation in Chinese patients were found: p. Arg239(35%, 15/34), p. Arg79 (26%, 11/43) and p. R88 (16%, 7/43). Conclusion: The characteristic clinical manifestations of type Ⅰ AxD patients are developmental delay, seizures, macrocephaly and paroxysmal deterioration. Moreover, a few patients may present with brain stem symptoms, mental abnormalities, scoliosis or kyphosis. Patients with type Ⅰ AxD may show significant regression in motor function after 7 years of age.

The effect of sugammadex on postoperative cognitive function and recovery

Sugammadex is the first selective relaxant binding agent. When compared with neostigmine, following sugammadex administration patients wake earlier and have shorter recovery times. In this study, we hypothesized that fast and clear awakening in patients undergoing general anesthesia has positive effects on cognitive functions in the early period after operation. Approved by the local ethical committee, 128 patients were enrolled in this randomized, prospective, controlled, double-blind study. Patients were allocated to either Sugammadex group (Group S) or the Neostigmine group (Group N). The primary outcome of the study was early postoperative cognitive recovery as measured by the Montreal Cognitive Assessment (MoCA) and Mini Mental State Examination (MMSE). After baseline assessment 12-24h before the operation. After the operation, when the Modified Aldrete Recovery Score was ≥9 the MMSE and 1h later the MoCA tests were repeated. Although there was a reduction in MoCA and MMSE scores in both Group S and Group N between preoperative and postoperative scores, there was no statistically significant difference in the slopes (p>0.05). The time to reach TOF 0.9 was 2.19min in Group S and 6.47min in Group N (p<0.0001). Recovery time was 8.26min in Group S and 16.93min in Group N (p<0.0001). We showed that the surgical procedure and/or accompanying anesthetic procedure may cause a temporary or permanent regression in cognitive function in the early postoperative period. However, better cognitive performance could not be proved in the Sugammadex compared to the Neostigmine.

Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology: A case report of first child with a genetically confirmed diagnosis of Angelman Syndrome on a hospital-based setting in Iraq

In this case report we discuss essential issue to be considered with regard to the clinical genetic testing in the epilepsies. The identification of genes that influence risk for the epilepsies has extremely important implications for both research and clinical practice. In a research context, information obtained may lead to the development of new treatments targeted to specific mechanisms, or even to ways of preventing epileptogenesis. In clinical practice, the use of genetic information can either clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk of developing epilepsy because of a family history (predictive testing). This 8-year old girl presented because of rapid regression in the cognitive function and had disturbed consciousness which started few weeks before admission. History of delayed milestones, epilepsy, subtle facial dysmorphology, ataxic gait and happy demeanor collectively raised suspicion of genetic/metabolic disorder. Genetic study discovered a deletion involving the maternally derived chromosome 15q11 region and this deletion is associated with Angelman Syndrome.

Statin Induced Regression of Cardiomyopathy Trial: A Randomized, Placebo-controlled Double-blind Trial.

Background:Hypertrophic cardiomyopathy (HCM), characterized by a thickened, fibrotic myocardium, remains the most common cause of sudden cardiac death in young adults. Based on animal and clinical data, we hypothesized that atorvastatin would induce left ventricular (LV) mass regression.Methods:Statin Induced Regression of Cardiomyopathy Trial (SIRCAT) was a randomized, placebo-controlled study. The primary endpoint was change in LV mass measured by cardiac magnetic resonance imaging 12 months after treatment with once-daily atorvastatin 80 mg or placebo. A key secondary endpoint was diastolic dysfunction measured echocardiographically by transmitral flow velocities. SIRCAT is registered with www.clinicaltrials.gov (NCT00317967).Results:Of 222 screened patients, 22 were randomized evenly to atorvastatin and placebo. The mean age was 47 ± 10 years, and 15 (68%) were male. All subjects completed the protocol. At baseline, LV masses were 197 ± 76 g and 205 ± 82 g in the placebo and atorvastatin groups, respectively. After 12 months treatment, the LV masses in the placebo and atorvastatin groups were 196 ± 80 versus 206 ± 92 g (P = 0.80), respectively. Echocardiographic indices were not different in the two groups at baseline. After 12 months, diastolic dysfunction as assessed using transmitral flow velocities E/E', A/A', and peak systolic mitral velocity showed no benefit from atorvastatin.Conclusions:In patients with HCM, atorvastatin did not cause LV mass regression or improvements in LV diastolic function.

The effect of sugammadex on postoperative cognitive function and recovery

Background and objectiveSugammadex is the first selective relaxant binding agent. When compared with neostigmine, following sugammadex administration patients wake earlier and have shorter recovery times. In this study, we hypothesized that fast and clear awakening in patients undergoing general anesthesia has positive effects on cognitive functions in the early period after operation. MethodsApproved by the local ethical committee, 128 patients were enrolled in this randomized, prospective, controlled, double-blind study. Patients were allocated to either Sugammadex group (Group S) or the Neostigmine group (Group N). The primary outcome of the study was early postoperative cognitive recovery as measured by the Montreal Cognitive Assessment (MoCA) and Mini Mental State Examination (MMSE). After baseline assessment 12–24h before the operation. After the operation, when the Modified Aldrete Recovery Score was ≥9 the MMSE and 1h later the MoCA tests were repeated. ResultsAlthough there was a reduction in MoCA and MMSE scores in both Group S and Group N between preoperative and postoperative scores, there was no statistically significant difference in the slopes (p>0.05). The time to reach TOF 0.9 was 2.19min in Group S and 6.47min in Group N (p<0.0001). Recovery time was 8.26min in Group S and 16.93min in Group N (p<0.0001). ConclusionWe showed that the surgical procedure and/or accompanying anesthetic procedure may cause a temporary or permanent regression in cognitive function in the early postoperative period. However, better cognitive performance could not be proved in the Sugammadex compared to the Neostigmine.

Corticosteroid therapy in regressive autism: Preliminary findings from a retrospective study.

Some children with autism spectrum disorders (ASD; 15% to 30% of patients) show a significant and persistent regression in speech and social function during early childhood. There are no established treatments for the regressive symptoms. However, there are some known causes of this type of regression, such as Rett syndrome and Landau-Kleffner syndrome (LKS). In LKS, steroids have been used as a treatment. Some evidence suggests an autoimmune contribution to the pathophysiology of autism (Chez MG, Guido-Estrada N: Immune therapy in autism: historical experience and future directions with immunomodulatory therapy. Neurotherapeutics 2010, 7:293–301, Wasilewska J, Kaczmarski M, Stasiak-Barmuta A, Tobolczyk J, Kowalewska E: Low serum IgA and increased expression of CD23 on B lymphocytes in peripheral blood in children with regressive autism aged 3-6 years old. Arch Med Sci 2012, 8:324–331, Stefanatos G: Changing perspectives on Landau-Kleffner syndrome. Clin Neuropsychol 2011, 25:963–988), raising the possibility that steroids might be a useful therapy for regression in ASD. A retrospective study published in BMC Neurology by Duffy et al. (Duffy, et al: Corticosteroid therapy in regressive autism: A retrospective study of effects on the Frequency Modulated Auditory Evoked Response (FMAER), language, and behavior. BMC Neurol 2014, 14:70) reviewed 20 steroid treated R-ASD (STAR) patients and 24 ASD control patients not treated with steroids (NSA). Improvements in clinical function and in a neurophysiological biomarker were seen in the steroid-treated children pre- to post-prednisolone treatment. This research provides a rationale for a randomized trial with steroid therapy to determine the longer term benefits and complications of steroids in this population.Please see related article http://www.biomedcentral.com/1471-2377/14/70/abstract.

Left ventricular reverse remodeling after transcatheter aortic valve implantation: a cardiovascular magnetic resonance study.

BackgroundIn patients with severe aortic stenosis, left ventricular hypertrophy is associated with increased myocardial stiffness and dysfunction linked to cardiac morbidity and mortality. We aimed at systematically investigating the degree of left ventricular mass regression and changes in left ventricular function six months after transcatheter aortic valve implantation (TAVI) by cardiovascular magnetic resonance (CMR).MethodsLeft ventricular mass indexed to body surface area (LVMi), end diastolic volume indexed to body surface area (LVEDVi), left ventricular ejection fraction (LVEF) and stroke volume (SV) were investigated by CMR before and six months after TAVI in patients with severe aortic stenosis and contraindications for surgical aortic valve replacement.ResultsTwenty-sevent patients had paired CMR at baseline and at 6-month follow-up (N=27), with a mean age of 80.7±5.2 years. LVMi decreased from 84.5±25.2 g/m2 at baseline to 69.4±18.4 g/m2 at six months follow-up (P<0.001). LVEDVi (87.2±30.1 ml /m2vs 86.4±22.3 ml/m2; P=0.84), LVEF (61.5±14.5% vs 65.1±7.2%, P=0.08) and SV (89.2±22 ml vs 94.7±26.5 ml; P=0.25) did not change significantly.ConclusionsBased on CMR, significant left ventricular reverse remodeling occurs six months after TAVI.

Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and Leigh syndrome. Wolff-Parkinson-White (WPW) syndrome and optic atrophy were reported in a high proportion of patients with this mutation. We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertrophic cardiomyopathy, in association with Leigh syndrome. Supplementation with coenzyme Q10, thiamine and carnitine prevented further regression in gross motor function but the patient's heart function deteriorated and dilated cardiomyopathy developed 11 months later. She was found to have a mutation of mtDNA G13513A. We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy, and serial heart function monitoring by echocardiography is recommended in this group of patients.

MODELOS MATEMÁTICOS PARA ESTIMAR EL CRECIMIENTO DEL FRUTO DE CHILE MANZANO (Capsicum pubescens R and P)

Apple pepper inter-varietal hybrid (Capsicum pubescens R y P) “Puebla x Zongolica” is high-yielding due to its volume, pericarp thickness, and fruit weight. Fruit yield is explained mainly by its size, and it is of interest to describe fruit growth dynamics. Fruit growth analysis generally has been based on destructive sampling since it is impossible to use the same fruit throughout the growing season. Competition among the different plant organs decrease fruit size and weight, negatively affecting fruit quality and yield. For these reasons, this study was conducted to assess and identify mathematical models that describe fruit growth without destructive sampling. Simple linear regression, multiple linear regression, and four non-linear models were tested. The hypothesis was that one of the six models efficiently explains fruit growth using the independent variable volume of displaced water. Chili plants were cultivated under an intensive production system in 2004 and 2005. The dependent variable was fresh fruit weight and the independent variables were fruit growth time, and average fruit length and width at shoulder, volume of displaced water and fruit volume. Significant differences were found between the means of the evaluated variables in the two sampling periods (Pd”0.0). The models that best explained fruit growth were simple linear regression (only in 2004) in function of volume of displaced water and fruit volume and the multiple linear regression model which adequately describes growth using, besides the above mentioned variables, growth time and average length and width, in both 2004 and 2005. However, the monomolecular method (in both sampling periods) estimates fresh fruit weight simply and precisely using a single non-destructive variable, either the volume of displaced water or volume, making this model the most practical for the description of fruit growth.

Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

Mucopolysaccharidosis types IIIA through IIID (Sanfilippo syndrome) are caused by deficiencies of enzymes involved in the degradation of heparan sulfate. The onset and severity of the disease are highly variable. The purpose of this study was to describe the natural course of mucopolysaccharidosis type IIIA in a large cohort of patients. The natural course of mucopolysaccharidosis type IIIA was assessed in 71 patients by using a detailed questionnaire and a 4-point scoring system and compared with the course of the disease in 14 patients with mucopolysaccharidosis type IIIB and 4 patients with mucopolysaccharidosis type IIIC. In the cohort of patients with mucopolysaccharidosis type IIIA, first symptoms of disease were observed, on average, at 7 months of age. Speech and motor development were delayed in 66.2% and 33.9% of patients, respectively. The median age at diagnosis was 4.5 years. The onset of regression in speech, motor, and cognitive function was observed at an average age of 3.3 years. The loss of all 3 of the assessed abilities was observed at an average age of 12.5 years. Speech was lost before motor and cognitive functions. In a small group of patients who were >12.5 years of age (9.9%), speech, motor, and cognitive skills were partially preserved up to a maximum age of 23.8 years. To our knowledge, this is the first systematic and comprehensive study on the natural course of mucopolysaccharidosis type IIIA. The 4-point scoring system may be used to classify patients into groups with a rapid or slower course of the disease. This may have an important impact on parental counseling as well as therapeutic interventions.