Floppy baby syndrome

2020 ◽  
pp. 4-8
Author(s):  
Sergey Panchenko
Keyword(s):  
Metabolic Diseases ◽  
Neurological Diseases ◽  
Comprehensive Treatment ◽  
Degenerative Diseases ◽  
Muscular Hypotonia ◽  
Topical Diagnosis ◽  
Hereditary Metabolic Diseases ◽  
Inclusion Period ◽  
Peripheral Origin

Issue of clinical polymorphism is especially important in the diagnosis of conditions that are clinically manifested by the complex of symptoms of a «floppy baby». It is not a separate nosological form, its clinical features are not specific, the course and outcome are variable. Diffuse muscular hypotonia can be a sign of a large number of somatic and neurological diseases, in particular, hereditary metabolic diseases and degenerative diseases of the nervous system. According to the level of damage, it can be classified into hypotonia of central and peripheral origin. Their differential diagnosis is carried out according to a number of criteria. Differences in treatment tactics and prognosis of opportunities during inclusion period determine importance of topical diagnosis of the degree of damage. Timely determination of this syndrome in a child allows to start searching for the causes of this condition and comprehensive treatment.

COMMITTEE ON NUTRITION

PEDIATRICS ◽  
1967 ◽  
Vol 40 (2) ◽  
pp. 289-304
Author(s):  
CHARLES U. LOWE ◽  
DAVID BAIRD COURSIN ◽  
FELIX P. HEALD ◽  
MALCOLM A. HOLLIDAY ◽  
DONOUGH O'BRIEN ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Metabolic Diseases ◽  
Dietary Treatment ◽  
Nutritional Therapy ◽  
The United States ◽  
Detection Methods ◽  
Dietary Therapy ◽  
Treatment Practices ◽  
Hereditary Metabolic Diseases ◽  
Number Of Patients

THIRTEEN YEARS AGO a dietary approach to the therapy of phenylketonuria was proposed, and data on the usefulness as well as the very real limitations of this program have accumulated in the intervening years. At the present time studies on the application of special diets for use in this disease, as well as for many other hereditary metabolic diseases, are in progress. As wider use is made of procedures for detection of hereditary metabolic disease in the newborn, an increasingly larger number of patients who may benefit from appropriate nutritional therapy will be identified very early in life. For example, calculations based on the current birth rate and apparent incidence of phenylketonuria indicate that as many as 4,000 infants with this disorder in the United States alone could require dietary therapy in the next decade. There is, therefore, a need to evaluate the principles governing nutritional management of hereditary metabolic disease in order to develop optimal treatment facilities for use in conjunction with new detection methods. It seems anomalous that comparatively little has been done either to establish good treatment practices in hereditary metabolic disease or to mobilize scientific resources to ensure an optimistic out-come for therapeutic endeavors, while so much emphasis has been placed on detection. Dietary treatment of hereditary metabolic disease is simple in theory; however, practical application may be unexpectedly difficult, or even hazardous, if not carefully supervised. It should be determined whether: (1) the untreated disease is in fact harmful, (2) the treatment is useful in preventing or reversing the unfavorable progression of the disease, (3) the therapy may be harmful by interfering with growth or development, and (4) the program may be harmful to others to whom it is inadvertently or inappropriately given.

An HPLC method for the determination of adenosine diphosphate: An important marker of hexokinase activity in metabolic diseases

2019 ◽  
Vol 33 (4) ◽  
pp. e4473
Author(s):  
Rodrigo Brito Santos ◽  
Railmara Pereira da Silva ◽  
Felipe Akihiro Melo Otsuka ◽  
Danielle de Jesus Trindade ◽  
Aline Costa Santos ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Adenosine Diphosphate ◽  
Hplc Method ◽  
Hexokinase Activity ◽  
Important Marker

scholarly journals Aetiological aspects of west syndrome

2006 ◽  
Vol 134 (Suppl. 1) ◽  
pp. 45-49
Author(s):  
Borivoj Marjanovic ◽  
Milena Djuric ◽  
Dragan Zamurovic ◽  
Ruzica Kravljanac ◽  
Gordana Vlahovic ◽  
...  
Keyword(s):  
Metabolic Diseases ◽  
Neurological Impairment ◽  
Epileptic Encephalopathy ◽  
Psychomotor Retardation ◽  
West Syndrome ◽  
Clinical Feature ◽  
Perinatal Complications ◽  
Hereditary Metabolic Diseases ◽  
Number Of Patients ◽  
Aetiological Diagnosis

INTRODUCTION. West Syndrome involves epileptic encephalopathy in infants, occurring with an incidence of 5/10000 live births. Its main clinical feature are spasms that occur in clusters, which are associated with an EEG pattern called hypsarrhythmia and psychomotor retardation in most patients. West Syndrome is associated with many underlying conditions and the terms idiopathic, cryptogenic, and symptomatic are used for its aetiological subgroups. OBJECTIVE. The objective of this investigation was to determine the aetiological diagnosis of patients with West Syndrome and to compare the results with other studies. METHOD. In this 34-year longitudinal prospective one-centre study, 404 patients were studied. All patients exhibiting the diagnostic criteria for West Syndrome were investigated by clinical and neurological examination, EEG, ophthalmologic, psychological, metabolic, genetic, as well as neuroradiological methods, according to their particular indications. RESULTS. 36 (8.9%) patients had normal development, in whom infantile spasms occurred without any identifiable underlying cause, forming the idiopathic group. 51 patients (12.6%) with neurological impairment of unknown aetiology formed the cryptogenic group. The greatest number of patients (317 or 78.5%) formed the symptomatic group, in which neurological features and developmental delay preceded the onset of spasms. Disgenetic disorders and hereditary metabolic diseases were aetiological factors 44 (10.8%) patients. Prenatal and perinatal aetiological factors were revealed in one third of the patients (134 or 31%). Postnatal aetiological factors were revealed in 42 (10.2%) patients. In our study, disgenetic disorders were registered less frequently and perinatal complications more frequently than in other studies. CONCLUSION. Our results indicate the possibility of preventing West Syndrome with good quality obstetric and neonatal care, as well as the early prenatal diagnosis of brain malformations. Modern, sophisticated investigation makes the more accurate aetiological diagnosis of West Syndrome possible.

scholarly journals LIPID METABOLISM DISEASES BY EXAMPLE GM2 GANGLIOZIDOSIS AND PREDISPOSITION TO THEM OF CERTAIN ETHNIC GROUPS OF PEOPLE

2020 ◽  
Vol 3 (2(71)) ◽  
pp. 34-36
Author(s):  
Z.V. Zyukina ◽  
T.A. Lobaeva
Keyword(s):  
Ethnic Groups ◽  
Metabolic Diseases ◽  
Scientific Literature ◽  
Research Result ◽  
The United States ◽  
Eastern European ◽  
Gm2 Gangliosidosis ◽  
Ashkenazi Jews ◽  
Hereditary Metabolic Diseases ◽  
Analytical Review

The relevance of the study is due to the fact that the scientific literature does not have sufficient data on the predisposition of certain ethnic groups of people to metabolic diseases on the example of GM2 gangliosidosis, so the purpose of the work is to clarify and analyze this predisposition of some ethnic groups of people to Tey — Sachs disease (GM2 gangliosidosis, amaurotic idiocy). The research materials and methods are a scientific and analytical review of modern publications on this topic. Research result: a review of the scientific literature has shown that the Jewish population of Eastern European origin (Ashkenazi Jews) has a higher incidence of TaySachs disease and other lipid accumulation diseases. Conclusions: the frequency of hereditary metabolic diseases ranges from 1: 2000 newborns to 1:1000000, and many of these diseases are characterized by differences in the frequency of occurrence in different ethnic groups and populations. In relation to GM2 gangliosidosis, it is shown that 1 in 27-30 Ashkenazi Jews in the United States is a recessive carrier of this disease. BTS affects 1 in 3,600 newborn Jews. One in 20 Jews have a hereditary predisposition to the disease.

MODELS AND METHODS OF INFORMATION TECHNOLOGY OF ADVANCED NEONOTAL SCREENING

2021 ◽  
Vol 6 ◽  
pp. 129-147
Author(s):  
Yekaterina Kovalоva ◽  
◽  
Vladimir Lyfar ◽  
◽  
Keyword(s):  
Information Technology ◽  
Neonatal Screening ◽  
Metabolic Diseases ◽  
Block Diagram ◽  
Information Model ◽  
Blood Analysis ◽  
Hereditary Diseases ◽  
Information Support ◽  
Information Flows ◽  
Hereditary Metabolic Diseases

The paper considers the problems of informational implementation of neonatal screening of newborns in order to improve the overall picture of the nation's health and prevent the development of hereditary diseases. The methodology for solving the problems of complete neonatal screening is based on the methods and mathematical apparatus of discrete mathematics, web technologies, data warehouses, and data mining methods. An information model of the dynamic processes of neonatal screening is proposed, based on the specific processing of data presented by a tuple, which contains coherent sequential processes for obtaining the results of tests for blood analysis of newborns, conducting genetic studies and determining pathologies and deviations from an expanded list (currently up to 44 indicators for the purpose of exiting for more than 60). The block diagram of information support of information technology in the decision support system for carrying out neonatal screening of hereditary metabolic diseases is presented. On the basis of LLC «CDC «PHARMBIOTEST», the research of the algorithm for performing sequential procedures of neonatal screening was carried out. The described algorithm of actions has been tested and fully tested for the continuity of information flows, the stability of the information model graph. As a result of the research, the sufficiency and completeness of the chronological indicators of the processing of information flows have been proved. The criteria for confirming the authenticity of methods for obtaining a diagnosis have been developed.

Hereditary Metabolic Diseases

2004 ◽  
pp. 219-248
Author(s):  
Douglas C. Anthony ◽  
Hans H. Goebel ◽  
Jacqueline Mikol
Keyword(s):  
Metabolic Diseases ◽  
Hereditary Metabolic Diseases

Hereditary Metabolic Diseases

2013 ◽  
pp. 227-256
Author(s):  
Frédéric Sedel ◽  
Hans H. Goebel ◽  
Douglas C. Anthony
Keyword(s):  
Amino Acids ◽  
Clinical Features ◽  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
The Other ◽  
Structural Protein ◽  
Cellular Organelle ◽  
Biochemical Pathways ◽  
Hereditary Metabolic Diseases ◽  
Intermediate Metabolite

This chapter describes and illustrates the morphologic CNS changes in hereditary metabolic disorders. In some disorders, the metabolic derangements are most prominent in the cytosol and are linked to the dysfunction of a single cellular organelle. In these disorders there may be intracellular accumulation of an intermediate metabolite, resulting in a “storage disease” or accumulation of the abnormal substance within the cell. The organelles most commonly involved in these disorders are lysosomes, peroxisomes, mitochondria, and the cytoplasmic compartment. The other disorders are not linked to a specific cellular organelle. They are defined by an enzyme deficiency, the biochemical pathways involved (metabolic disorders of sugars, copper, amino acids, or structural protein), or only by morphologic/clinical features.

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