scholarly journals An algorithm of diagnostics of pharmacoresistent epilepsy in children of different age groups

2018 ◽  
Keyword(s):  
Molecular Genetic ◽  
Age Groups ◽  
Diagnostic Algorithm ◽  
Epileptic Seizures ◽  
Epileptic Encephalopathy ◽  
Laboratory Research ◽  
Older Children ◽  
Molecular Genetic Study ◽  
Pharmacoresistant Epilepsy ◽  
Choice Of Treatment

WHO estimates that seizures persist in 30% of patients with epilepsy, despite treatment with antiepileptic drugs. In this regard, one of the main tasks is to find the reasons for the formation of pharmacoresistance, leading to neurological deficit and cognitive impairment. To create a diagnostic algorithm for pharmacoresistant epilepsy, we examined 256 children aged 1 day to 18 years who had uncontrollable seizures. All patients were divided into 3 groups: the first group - children of neonatal age - up to 1 month of life, the second group - children of early age from 1 month to 5 years, the third group - children over 5 years. All patients underwent anamnestic, clinical, neurophysiological (EEG, EEGvideo monitoring), neurovisualization (NSG, high-field MRI in the “Epilepsy” mode), laboratory research methods. It has been shown that in the neonatal period, metabolic parameters, acid-base blood balance, bacteriological and virological studies, including cerebrospinal fluid, are of significant importance. In young children, when there is a high risk of the formation of epileptic encephalopathy, increased attention is directed to a medical genetic examination with a molecular genetic study. In non-removable epileptic seizures in older children, a significant place is given to etiological factors, in case of structural epilepsy to localization and size of the focus and complex somatic examination with an assessment of the cytochrome P450 system and immunological status. The revealed patterns of the formation of pharmacological resistance influence the choice of treatment tactics.

scholarly journals On the study of seizures in newborns and early age children (features of diagnosis and clinical and genetic characteristics of epileptic encephalopathies)

2021 ◽  
pp. 37-50
Author(s):  
V.Yu. Martyniuk ◽  
◽  
T.K. Znamenska ◽  
V.B. Shveikina ◽  
V.A. Galagan ◽  
...  
Keyword(s):  
Young Children ◽  
Metabolic Disorders ◽  
Molecular Genetic ◽  
Nerve Impulse ◽  
Epileptic Seizures ◽  
Short Review ◽  
Epileptic Encephalopathy ◽  
Genetic Characteristics ◽  
Epileptic Encephalopathies ◽  
Metabolic Defects

The article is devoted to the urgent problem of neonatology and pediatric neurology — seizures in newborns and young children. In the work, a short review of the clinical and genetic characteristics of monogenic epilepsy is presented, in particular, the main attention is paid to the variants that begin in neonatal and early childhood. It has been shown that a significant number of epileptic encephalopathies are caused by mutations in genes whose protein products form voltage-dependent (sodium and potassium), ligan(dependent (γ-aminobutyric acid — GABA) channels, the functioning of which ensures the passage of a nerve impulse in neurons of the cerebral cortex. The necessity of including the molecular genetic methods into the algorithm for examining a child with epilepsy, in particular with epileptic encephalopathy, is emphasized. It is noted that congenital metabolic disorders are one of the etiological reasons for the development of epileptic seizures in children, in particular in newborns and young children. It was shown that congenital metabolic disorders have phenotypic manifestations of epileptic encephalopathy. Some curable metabolic defects that are accompanied by seizures, their diagnosis and timely treatment are described. No conflict of interest was declared by the authors. Key words: newborn, epilepsy, epileptic encephalopathy, diagnosis, genetic examination, metabolic defects, review.

Differences in Cyto- and Molecular Genetic Abnormalities between Children <2 Years and Older Children with Acute Myeloid Leukemia.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1830-1830
Author(s):  
Brian V. Balgobind ◽  
Iris H. Hollink ◽  
Dirk Reinhardt ◽  
Jutta Bradtke ◽  
Andrea Teigler-Schlegel ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Young Children ◽  
Myeloid Leukemia ◽  
Molecular Genetic ◽  
Age Groups ◽  
Normal Karyotype ◽  
Older Children ◽  
Ras Mutations ◽  
Genetic Abnormalities ◽  
Acute Myeloid

Abstract Young children (defined as &lt;2 years old) with acute myeloid leukemia (AML) do not differ in outcome when compared with older children with AML. Previously, distinct cytogenetic aberrations specific for AML in young children have been reported, such as t(7;12), and t(1;22), which is found exclusively in FAB M7. Moreover, young children with AML are characterized by a high frequency of 11q23-rearrangements. However, so far, no information is available on differences in the molecular genetic background of these two age groups. We therefore retrospectively investigated the distribution of different cytogenetic and molecular aberrations in a large cohort (n=435) of pediatric AML cases, of which 75 (17%) were young children. The predominant cytogenetic aberration in infant AML consisted of 11q23-rearrangements, which occurred in 44% of young children versus 17% in older children (p=&lt;0.005), without differences in the distribution of 11q23-translocation partners. We also found significant differences in other cytogenetic subgroups of AML between young and older children, i.e. normal karyotype, 5% vs. 18%, respectively (p=0.008) and complex karyotype, 12% vs. 5% (p=0.03). t(7;12) (n=3) and t(8;16) (n=3) were only detected in young children, in contrast to t(15;17) (n=16) and t(8;21) (n=44), which were only seen in older children. Patients were also screened for molecular abnormalities, including the mutational hotspots of c-KIT (n=229), FLT3 (n=230), N-RAS (n=187), K-RAS (n=187), PTPN11 (n=216), MLL-partial tandem duplications (MLL-PTD) (n=240) and NPM1 (n=291). In the overall cohort, a significantly different age distribution was found for NPM1 mutations (0% young vs. 9% in older children; p=0.05) and FLT3-ITD (0% vs. 21%, respectively; p=0.005). Mutations in the other genes showed no clear correlation with age. Several non-random associations between molecular and cytogenetic abnormalities were detected. 89% of c-KIT mutations were associated with core-binding factor AML in children ≥2 years old. In young children, 2/4 c-KIT-mutated cases were associated with an MLL-rearrangement. NPM1 and FLT3-ITD mutations in older children were significantly correlated with normal karyotype AML (57% of NPM1 mutations, and 75% of FLT3/ITD; p=&lt;0.005). In young children, 71% of RAS mutations were associated with an 11q23-rearrangement vs. 28% in older children (p=0.08). In older children however, 41% of the RAS mutations were associated with a normal karyotype. These data suggest that young children with AML are characterized by differences in the type and frequency of cytogenetic and molecular genetic abnormalities when compared with older children with AML, possibly reflecting differences in underlying biology between these age-groups. These differences may become clinically relevant in the era of molecularly targeted therapy.

scholarly journals Step by step diagnosis of hereditary tyrosinemia type I in children

2019 ◽  
Vol 19 (3) ◽  
pp. 132-137
Author(s):  
L. S. Namazova-Baranova ◽  
Galina V. Volynets ◽  
A. V. Nikitin ◽  
T. A. Skvortsova ◽  
A. S. Karulina ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Diagnostic Algorithm ◽  
Type I ◽  
Molecular Genetic Study ◽  
Timely Initiation ◽  
Early Beginning ◽  
Tyrosinemia Type I ◽  
Sick Children ◽  
Hereditary Tyrosinemia ◽  
Prevention Of Disability

Tyrosinemia type I (HT1) is a rare genetic disease that leads to the development of cirrhosis of the liver, liver failure, and tubulopathy. In this connection there is necessary the early diagnosis and timely initiation of the pathogenetic treatment. The aim of the work was the elaboration of algorithm for a diagnostics of hereditary HT1 in children. We observed 17 children (8 boys and 9 girls) with HT1. There were investigated data of both of the life and disease history ofpatients, there were evaluated changes in clinical and laboratory indices at the onset of the disease. There are established significant clinical and laboratory diagnostic criteria at the onset of HT1 in infants with consequent construction of diagnostic algorithm of this form of pathology. Stepwise diagnosis allows to early detect this disease yet at the first level of the delivery of medical aid in conditions ofprimary health care. Early beginning of specific therapy of HT1 provides for the prevention of disability and death of sick children. Step-by-step diagnostics of HT1 allows to implement the selection ofpatients who need performing of molecular genetic study.

RTS,S/AS01, a vaccine targeting pre-erythrocytic stages of Plasmodium falciparum

2017 ◽  
Vol 1 (6) ◽  
pp. 533-537
Author(s):  
Lorenz von Seidlein ◽  
Borimas Hanboonkunupakarn ◽  
Podjanee Jittmala ◽  
Sasithon Pukrittayakamee
Keyword(s):  
Protective Efficacy ◽  
Age Groups ◽  
Sub Saharan Africa ◽  
Phase Iii ◽  
European Medicines Agency ◽  
Older Children ◽  
Pivotal Phase ◽  
Malaria Epidemiology ◽  
Maximum Benefit ◽  
Sub Saharan

RTS,S/AS01 is the most advanced vaccine to prevent malaria. It is safe and moderately effective. A large pivotal phase III trial in over 15 000 young children in sub-Saharan Africa completed in 2014 showed that the vaccine could protect around one-third of children (aged 5–17 months) and one-fourth of infants (aged 6–12 weeks) from uncomplicated falciparum malaria. The European Medicines Agency approved licensing and programmatic roll-out of the RTSS vaccine in malaria endemic countries in sub-Saharan Africa. WHO is planning further studies in a large Malaria Vaccine Implementation Programme, in more than 400 000 young African children. With the changing malaria epidemiology in Africa resulting in older children at risk, alternative modes of employment are under evaluation, for example the use of RTS,S/AS01 in older children as part of seasonal malaria prophylaxis. Another strategy is combining mass drug administrations with mass vaccine campaigns for all age groups in regional malaria elimination campaigns. A phase II trial is ongoing to evaluate the safety and immunogenicity of the RTSS in combination with antimalarial drugs in Thailand. Such novel approaches aim to extract the maximum benefit from the well-documented, short-lasting protective efficacy of RTS,S/AS01.

Can conversation analytic findings help with differential diagnosis in routine seizure clinic interactions?

2016 ◽  
Vol 12 (1) ◽  
pp. 13-24 ◽  
Author(s):  
Katie Ekberg ◽  
Markus Reuber
Keyword(s):  
Differential Diagnosis ◽  
Correct Diagnosis ◽  
Diagnostic Errors ◽  
Epileptic Seizures ◽  
Routine Clinical Setting ◽  
Choice Of Treatment ◽  
Transient Loss ◽  
Factual Content ◽  
Patient’S History ◽  
Linguistic Methods

There are many areas in medicine in which the diagnosis poses significant difficulties and depends essentially on the clinician’s ability to take and interpret the patient’s history. The differential diagnosis of transient loss of consciousness (TLOC) is one such example, in particular the distinction between epilepsy and ‘psychogenic’ non-epileptic seizures (NES) is often difficult. A correct diagnosis is crucial because it determines the choice of treatment. Diagnosis is typically reliant on patients’ (and witnesses’) descriptions; however, conventional methods of history-taking focusing on the factual content of these descriptions are associated with relatively high rates of diagnostic errors. The use of linguistic methods (particularly conversation analysis) in research settings has demonstrated that these approaches can provide hints likely to be useful in the differentiation of epileptic and non-epileptic seizures. This paper explores to what extent (and under which conditions) the findings of these previous studies could be transposed from a research into a routine clinical setting.

Challenges in the differential diagnosis of multiple endocrine neoplasia syndrome type 1 with isolated family hyperparathyroidism

2020 ◽  
Vol 98 (3) ◽  
pp. 218-225
Author(s):  
J. A. Krupinova ◽  
N. G. Mokrysheva ◽  
N. Y. Kalinchenko ◽  
A. K. Eremkina ◽  
A. N. Polyakov ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Molecular Genetic ◽  
Pancreatic Neuroendocrine Tumor ◽  
Family Type ◽  
Dynamic Monitoring ◽  
Heterozygous Mutation ◽  
Molecular Genetic Study ◽  
Men 1 ◽  
Endocrine Neoplasia

Multiple endocrine neoplasia type 1 (MEN-1) is the most common cause of the hereditary type of primary hyperparathyroidism (PHPT). If a family type of PHPT is suspected, a dynamic monitoring of patients and their close relatives should be carried out throughout their lives. We present a clinical case of a family in which four members of a pedigree were diagnosed with familial isolated hyperparathyroidism (FIHP). The diagnosis was changed to MEN-1, because it appeared that one of the patients had pancreatic neuroendocrine tumor. Molecular genetic study of MEN1 by direct by means of Sanger sequencing revealed that six family members had a new heterozygous mutation in exon 9: s. 1252 G> T p. D418Y.

Hematologic and serum biochemistry reference intervals using defined ASCVP methodology for laboratory natal multimammate mice (Mastomys natalensis)

2021 ◽  
pp. 002367722110185
Author(s):  
Brian J Smith ◽  
Patrick W Hanley ◽  
Ousmane Maiga ◽  
Maarit N Culbert ◽  
Marissa J Woods ◽  
...  
Keyword(s):  
Complete Blood Count ◽  
Age Groups ◽  
Serum Biochemistry ◽  
Reference Intervals ◽  
Laboratory Research ◽  
Data Sets ◽  
Mastomys Natalensis ◽  
Complete Blood Counts ◽  
Multimammate Mice ◽  
Female Laboratory

Complete blood count, serum chemistry values, and biological reference intervals were compared between two age groups (34–49 and 84–120 days old) of healthy male and female laboratory raised natal multimammate mice ( Mastomys natalensis). Blood was collected via cardiocentesis under isoflurane anesthesia. Data sets of machine automated complete blood counts and clinical chemistries were analyzed. Significant differences between sex and age groups of the data sets were defined. The baseline hematologic and serum biochemistry values described here can improve interpretation of laboratory research using natal multimammate mice.

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