Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in SERAC1 and a mutation in SATB2. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.

Exploring the application of machine learning to the assembly line feeding problem

As a large number of companies are resorting to increased product variety and customization, a growing attention is being put on the design and management of part feeding systems. Recent works have proved the effectiveness of hybrid feeding policies, which consist in using multiple feeding policies in the same assembly system. In this context, the assembly line feeding problem (ALFP) refers to the selection of a suitable feeding policy for each part. In literature, the ALFP is addressed either by developing optimization models or by categorizing the parts and assigning these categories to policies based on some characteristics of both the parts and the assembly system. This paper presents a new approach for selecting a suitable feeding policy for each part, based on supervised machine learning. The developed approach is applied to an industrial case and its performance is compared with the one resulting from an optimization approach. The application to the industrial case allows deepening the existing trade-off between efficiency (i.e., amount of data to be collected and dedicated resources) and quality of the ALFP solution (i.e., closeness to the optimal solution), discussing the managerial implications of different ALFP solution approaches and showing the potential value stemming from machine learning application.

Optimal control of fish-feeding in a three-dimensional calm freshwater pond considering environmental concern

<p style='text-indent:20px;'>This paper describes the optimal fish-feeding in a three-dimensional calm freshwater pond based on the concentrations of seven water quality variables. A certain number of baby fishes are inserted into the pond simultaneously. They are then taken out of the pond simultaneously for harvest after having gone through a feeding program. This feeding program creates additional loads of water quality variables in the pond, which becomes pollutants. Thus, an optimal fish-feeding problem is formulated to maximize the final weight of the fishes, subject to the restrictions that the fishes are not under-fed and over-fed and the concentrations of the pollutants created by the fish-feeding program are not too large. A computational scheme using the finite element Galerkin scheme for the three-dimensional cubic domain and the control parameterization method is developed for solving the problem. Finally, a numerical example is solved.</p>

The clinical neurology of problems with oral feeding

Oral feeding comprises a number of composite functions, all of which have to be coordinated to ensure adequate nutrition and hydration. Voluntary swallowing is central to the process, but without preserved pulmonary function, including cough, the airway is vulnerable. Medical and surgical problems, and the environment in which the patient is nursed, also determine the success of attempted oral feeding. Using this framework of thinking may help structure the clinical approach to oral feeding failure and facilitate discussion of issues other than just swallowing and dysphagia when forming opinions about the diagnosis and prognosis of the underlying disease, the mechanism of the feeding problem, and the most appropriate therapy. The goals of any intervention should be informed by a detailed appreciation of clinical issues and a working knowledge of the relevant ethical and legal issues. The MEALTIME approach is suggested as an aide memoire to help ensure that the relevant issues are addressed.

Feeding behaviour and its determinants among healthy toddlers in an urban city of India

IntroductionGrowth and development of a child is largely influenced by feeding behaviour. Feeding problem in infancy and childhood is an important aspect since this may be associated with under-nutrition or even childhood obesity. Social, environmental and emotional factors, type and taste of food, perceptions and practices of parents, etc. may all determine feeding behaviour of child. This study tries to find out the proportion of normal toddlers presenting with feeding problem, factors associated with feeding behaviour and their association with physical growth among these toddlers.MethodsA total of 100 mothers of 1 to 3 year-old children visiting for immunization were interviewed using systematic sampling method. A tool was developed by modifying existing tools are review of literature, was pre-tested and used. Association of various factors with eating behaviour and body mass index (BMI) were studied. Variables measured included perceived feeding problem, anthropometric measures, socio-demographic, emotional, environmental, parental factors, etc. Analysis was done using Chi-square test, t-test or Mann-Whitney U test using IBM SPSS v 20.0.ResultsMedian age of the children was 19 months. 35% had a feeding problem. None of the socio-demographic variables were found to have any association with feeding problem. All children born preterm had eating problem. Feeding problem got undetected if fed by anyone other than mother. The mean TV viewing time for children with eating problem was significantly more (p = 0.017). Education status of mothers had a positive association with body mass index of the child (p=0.010). Anger, forced feeding and sleepy/drowsiness were reported to decrease feeding while happiness, caressing while feeding, semi-solid and liquid foods, eating with siblings and friends, and hearing short stories were reported to increase.ConclusionFeeding problem was present in 35% of the toddlers. Preterm birth, long hours of TV viewing during feeding, are associated with eating problem. Mothers are the best persons to identify this problem. Better maternal education decreases the burden of under nourished children though it increases those of overweight and obese.