scholarly journals Young children with Noonan syndrome: evaluation of feeding problems

2020 ◽  
Vol 179 (11) ◽  
pp. 1683-1688
Author(s):  
Jos M. T. Draaisma ◽  
Joris Drossaers ◽  
Lenie van den Engel-Hoek ◽  
Erika Leenders ◽  
Joyce Geelen
Keyword(s):  
Young Children ◽  
Noonan Syndrome ◽  
Early Onset ◽  
Late Onset ◽  
Tube Feeding ◽  
Genetic Mutation ◽  
First Year ◽  
Feeding Problems ◽  
Genetic Syndrome ◽  
First Year Of Life

Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion: Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1. Feeding problems develop most often in infancy and decrease with age. What is Known:• Young children with Noonan syndrome may have transient feeding problems.• Most of them will need tube feeding. What is New:• This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome.• Feeding problems most often develop in infancy and resolve between the age of 1 and 2.

scholarly journals Early Introduction of Sugar-Sweetened Beverages and Caries Trajectories from Age 12 to 48 Months

2020 ◽  
Vol 99 (8) ◽  
pp. 898-906 ◽  
Author(s):  
E. Bernabé ◽  
H. Ballantyne ◽  
C. Longbottom ◽  
N.B. Pitts
Keyword(s):  
Dental Caries ◽  
Young Children ◽  
Later Life ◽  
Rate Of Change ◽  
First Year ◽  
Sugar Sweetened Beverages ◽  
Sweetened Beverages ◽  
The Mean ◽  
First Year Of Life ◽  
Over Time

Early exposure to sweet tastes predicts similar food preferences and eating behavior in later life and is associated with childhood obesity. The aim of this study was to explore the associations of early (during the first year of life) and subsequent intake of sugar-sweetened beverages (SSBs) with 4-y caries trajectories among Scottish young children. We used data from 1,111 Scottish children who were followed annually from age 12 to 48 mo (4 sweeps in total). SSB intake was reported by parents in every sweep. SSB intake was broken down into 2 components, the initial SSB intake and the deviation over time from that initial value. Childhood dental caries was clinically determined (including noncavitated and cavitated lesions) every year. The association of SSB intake with baseline decayed, missing, and filled tooth surfaces (dmfs) (intercept) and rate of change in dmfs over time (slope) was examined in 2-level linear mixed-effects models, with repeated observations nested within children. Both the initial SSB intake and the deviation from the initial SSB intake were positively associated with steeper caries trajectories. By sweep 4, the predicted mean dmfs difference was 1.73 between children with low and high initial SSB intake (1 standard deviation below and above the mean) and 1.17 between children with low and high deviation from their initial SSB intake (1 SD below and above the mean). The findings of this prospective study among Scottish young children provide evidence that the introduction of SSBs during the first year of life can put children in a trajectory of high levels of dental caries. They support current recommendations to avoid sugars for very young children and interventions targeting early feeding practices for caries prevention.

Aging-related satellite cell differentiation defect occurs prematurely after Ski-induced muscle hypertrophy

2002 ◽  
Vol 283 (4) ◽  
pp. C1228-C1241 ◽  
Author(s):  
Sophie B. P. Chargé ◽  
Andrew S. Brack ◽  
Simon M. Hughes
Keyword(s):  
Cell Differentiation ◽  
Satellite Cell ◽  
Satellite Cells ◽  
Genetic Background ◽  
Late Onset ◽  
Early Event ◽  
First Year ◽  
Muscle Aging ◽  
First Year Of Life ◽  
Differentiation Efficiency

To investigate the cause of skeletal muscle weakening during aging we examined the sequence of cellular changes in murine muscles. Satellite cells isolated from single muscle fibers terminally differentiate progressively less well with increasing age of donor. This change is detected before decline in satellite cell numbers and all histological changes examined here. In MSVski transgenic mice, which show type IIb fiber hypertrophy, initial muscle weakness is followed by muscle degeneration in the first year of life. This degeneration is accompanied by a spectrum of changes typical of normal muscle aging and a more marked decline in satellite cell differentiation efficiency. On a myoD-null genetic background, in which satellite cell differentiation is defective, the MSVski muscle phenotype is aggravated. This suggests that, on a wild-type genetic background, satellite cells are capable of repairing MSVski fibers and preserving muscle integrity in early life. We propose that decline in myogenic cell differentiation efficiency is an early event in aging-related loss of muscle function, both in normal aging and in some late-onset muscle degenerative conditions.

scholarly journals Causes of violation of vaccination schedule in young children

2019 ◽  
Vol 10 (3) ◽  
pp. 31-36
Author(s):  
Tatyana M. Chernova ◽  
Vladimir N. Timchenko ◽  
Nadezhda A. Myskina ◽  
Maria A. Lapina ◽  
Anna E. Orekhova ◽  
...  
Keyword(s):  
Young Children ◽  
Infectious Diseases ◽  
High Frequency ◽  
Maternity Hospital ◽  
Vaccination Schedule ◽  
First Year ◽  
Age Group ◽  
Immunization Schedule ◽  
Significant Delay ◽  
First Year Of Life

The high frequency of severe and complicated forms of infectious diseases in young children, with the possibility of death, confirms the importance of timely specific protection of this age group. In order to identify the causes of violation of the terms of vaccination of young children, 469 histories of children from 0 to 12 months of life were studied. The analysis showed that only 77% of the observed children in the first year of life were vaccinated according to the immunization schedule, whereas in 23% of cases, violations of the vaccination status were found. In 45% of children, the time of immunization was violated already at the stage of the maternity hospital: only every fifth child was not vaccinated because of health reasons, while 79% of children did not receive prophylactic vaccinations due to the mother’s refusal. Medical abductions prevailed in the structure of violations of vaccination terms in the сhildren’s оutpatient: 39% of children were vaccinated with deviations from the schedule due to temporary contraindications, 22% were vaccinated later than terms due to unreasonable medical leads. In 39% of cases of violation of vaccine status is associated with a misunderstanding of the parents of the risk of infectious diseases and the effectiveness of the child’s protection through immunization. Of these, 22% of children were denied, 10% of children were vaccinated with a significant delay, 7% of children did not reach the сhildren’s оutpatient during the year without an explanation of the reasons. Thus, the analysis showed that the majority of the observed children (57%) did not receive timely protection against infectious diseases due to attitudes towards vaccinations of parents, 43% of children were not vaccinated due to medical abductions.

scholarly journals Prevalence and risk factors for epilepsy in children with spastic cerebral palsy

2016 ◽  
Vol 50 (1) ◽  
pp. 11
Author(s):  
Dedy Rahmat ◽  
Irawan Mangunatmadja ◽  
Bambang Tridjaja ◽  
Taralan Tambunan ◽  
Rulina Suradi
Keyword(s):  
Risk Factors ◽  
Central Nervous System ◽  
Nervous System ◽  
Cerebral Palsy ◽  
Central Nervous System Infection ◽  
First Year ◽  
Genetic Syndrome ◽  
Female Ratio ◽  
Increased Risk ◽  
First Year Of Life

Background Epilepsy in cerebral palsy (CP) is usually difficult to treat and can lead to poor prognosis due to increased risk for motor and cognitive disorders. The prevalence and risk factors of epilepsy in children with CP vary among studies.Objective To determine the prevalence and risk factors for epilepsy in spastic CP.Methods We performed a retrospective study using medical records of patients with spastic CP at the Departement of Child Health, Cipto Mangunkusumo Hospital from January 2003 until December 2008. Prevalence ratio was calculated by comparing the prevalence of epilepsy in subjects with and without risk factors. We excluded patients with metabolic disorder, genetic syndrome, and onset of CP after 3 years of age.Results Two hundred thirty six out of 238 spastic CP patients were analyzed. The mean age at diagnosis of spastic CP was 28.8 months. Male to female ratio was 1.4:1. The prevalence of epilepsy in spastic CP was 39%. The risk factors for epilepsy in spastic CP were central nervous system infection, the ocurrence of seizure in the first year of life, and abnormality of EE G.Conclusions The prevalence of epilepsy in spastic CP is 39%. The risk factors for epilepsy in spastic CP are post central nervous system infection, and ocurrence of seizure in the first year of life. [Paediatr Indones. 2010;50:11-7].

scholarly journals Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes

2017 ◽  
Vol 102 (8) ◽  
pp. 2670-2677 ◽  
Author(s):  
Annette Grüters-Kieslich ◽  
Monica Reyes ◽  
Amita Sharma ◽  
Cem Demirci ◽  
Terry J DeClue ◽  
...  
Keyword(s):  
Early Onset ◽  
Clinical Evidence ◽  
Genetic Locus ◽  
Medical Attention ◽  
First Year ◽  
Α Subunit ◽  
Radiographic Findings ◽  
Genome Wide ◽  
Stimulatory G Protein ◽  
First Year Of Life

Abstract Context Early-onset obesity, characteristic for disorders affecting the leptin–melanocortin pathway, is also observed in pseudohypoparathyroidism type 1A (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein α-subunit (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type 1B (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities, they are considered distinct clinical entities. Objectives To further emphasize the overlapping features between both disorders, we report the cases of several children, initially brought to medical attention because of unexplained early-onset obesity, in whom PHP1B or PHP1A was eventually diagnosed. Patients and Methods Search for GNAS methylation changes or mutations in cohorts of patients with early-onset obesity. Results Severe obesity had been noted in five infants, with a later diagnosis of PHP1B due to STX16 deletions and/or abnormal GNAS methylation. These findings prompted analysis of 24 unselected obese patients, leading to the discovery of inherited STX16 deletions in 2 individuals. Similarly, impressive early weight gains were noted in five patients, who initially lacked additional Albright hereditary osteodystrophy features but in whom PHP1A due to GNAS mutations involving exons encoding Gsα was diagnosed. Conclusions Obesity during the first year of life can be the first clinical evidence for PHP1B, expanding the spectrum of phenotypic overlap between PHP1A and PHP1B. Importantly, GNAS methylation abnormalities escape detection by targeted or genome-wide sequencing strategies, raising the question of whether epigenetic GNAS analyses should be considered for unexplained obesity.

scholarly journals HGG-28. ONCOGENIC TYROSINE KINASE GENE FUSIONS IN SUPRATENTORIAL HIGH GRADE GLIOMAS OF YOUNG CHILDREN - COMPARISON OF RNA- AND DNA-BASED METHODS FOR THEIR RELIABLE DETECTION

2021 ◽  
Vol 23 (Supplement_1) ◽  
pp. i23-i23
Author(s):  
Torsten Pietsch ◽  
Gerrit Gielen ◽  
Andreas Waha ◽  
Evelyn Doerner ◽  
Andre O von Bueren ◽  
...  
Keyword(s):  
Young Children ◽  
Tyrosine Kinase ◽  
Rna Sequencing ◽  
First Year ◽  
High Grade ◽  
Gene Fusions ◽  
Kinase Gene ◽  
Tyrosine Kinase Gene ◽  
First Year Of Life ◽  
Rna And Dna

Abstract High-grade diffuse gliomas in early childhood are characterized by a more favorable outcome compared to older children. We have shown in previous studies that these tumors are characterized by stable genomes. The occurrence of tyrosine kinase gene fusions in high-grade gliomas of infancy may represent therapeutic targets. 50 glioblastomas (GBM) with supratentorial location occurring in children younger than four years were retrieved from the archives of the Brain Tumor Reference Center, Institute of Neuropathology, Bonn University. DNA and RNA were extracted from FFPE tumor samples. Gene fusions were identified on the DNA level by FISH using break-apart probes for ALK, NTRK1, -2, -3, ROS1 and MET and Molecular Inversion Probe (MIP) methodology. On the RNA level, fusion transcripts were detected by targeted RNA sequencing as well as Nanostring assay with fusion-specific probes. 37 supratentorial GBM occurred in the first year of life, 13 GBM between one and four years. 18 cases showed fusions of ALK to different partners; all occurred in the first year of life (18/37, 48.6%). Fusions of ROS1 were found in 5, MET in 3, NTRK1, -2, -3 in 10 cases. 12 cases showed no and two cases novel fusions. The different methods led to comparable results. Only recurrent fusions with known fusion partners were detectable with fusion sequence-specific Nanostring probes and library construction for targeted RNA sequencing failed in a fraction of cases. Break-apart FISH led to reliable results on the next day, and MIP technology represented the most sensitive method for analysis of FFPE samples. Gene fusions involving the tyrosine kinase genes ALK, MET, ROS1 and NTRK1, -2, -3 occurred in 72% of glioblastomas of young children; most frequent were ALK fusions occurring in infant GBM. DNA-based MIP technology represented the most robust and sensitive assay. A combination of RNA- and DNA-based methods to detect these fusions with high reliability is recommended.

scholarly journals Clinical assessment of urination in young children

2020 ◽  
Vol 24 (3) ◽  
pp. 167-173
Author(s):  
Ludmila A. Deryugina ◽  
T. V. Otpuschennikova
Keyword(s):  
Young Children ◽  
Clinical Evaluation ◽  
Postnatal Period ◽  
Hydrodynamic Characteristics ◽  
First Year ◽  
Functional Immaturity ◽  
Controlling Behavior ◽  
Volume Characteristics ◽  
First Year Of Life ◽  
Nighttime Sleep

The aim of the study was to study the formation of urination in young children, taking into account perinatal factors. Material and methods. the pattern of urination was studied in 42 patients at the stages of antenatal observation, after birth during the first year of life and at the age of three. Clinical evaluation of urination was performed in young children using a developed qualimetric table that takes into account the volume of the bladder and frequency of urination, the nature of urination, the presence of urge to urinate and behavioral reactions. At the age of three, a qualimetric table was used to evaluate E. L. Vishnevsky’s urination (2001). The observation group consisted of 42 patients whose urination pattern was studied at the stages of antenatal observation, during the first year of life and at the age of three. The features of the course of the antenatal and postnatal period of children’s development were taken into account: pregnancy complications, fetal pathological conditions, features of the morpho-functional state of infants, and neurological comorbidities. Results. According to the results of clinical evaluation of urination in children at 3 years of age, 3 groups of children were identified: with “Mature”,”delayed formation of “Mature” type of urination”, as well as “dysfunctional type of urination”. Conclusions. the manifestations of “maturity of urination” in infants at the age of 1 year are the compliance of hydrodynamic indicators with age standards, the formation of continuous urination, signs of controlling behavior: behavioral reaction to the urge, the absence of” missing urine “during the day, during daytime and nighttime sleep, “urination on request”. The “delay in the formation of mature urination type”, the formation of “dysfunctional urination type “ revealed the determining influence of the pathological course of the antenatal period of child development, the implementation of signs of pathological fetal urination, the presence of neurological symptoms and signs of morpho-functional immaturity of the postnatal period. “Dysfunctional urination” was manifested by: a decrease in the capacity of the bladder and the discrepancy between the hydrodynamic characteristics of the age parameters; monotony of the volume characteristics of the bladder during the day; imperative contractions of the bladder, that is, the presence of “wet gaps” between urination; urination during sleep; as well as a delay or lack of urge to urinate, behavioral responses and neatness skills.

COMPARATIVE FREQUENCY OF DETECTION OF ENTEROPATHOGENIC E. COLI, SALMONELLA AND SHIGELLA IN RECTAL SWAB CULTURES FROM INFANTS AND YOUNG CHILDREN

PEDIATRICS ◽  
1957 ◽  
Vol 19 (3) ◽  
pp. 411-423
Author(s):  
Merlin L. Cooper ◽  
Helen M. Keller ◽  
Edward W. Walters
Keyword(s):  
Young Children ◽  
Rectal Swab ◽  
Multiple Infections ◽  
First Year ◽  
Isolation And Identification ◽  
E Coli ◽  
Salmonella Infections ◽  
Number Of Patients ◽  
First Year Of Life ◽  
Infants And Young Children

The present report supplies the details and results of a study of 2,865 patients during a period of 2 years, March 1, 1954, to March 1, 1956. The purpose of the study was to determine the comparative frequency of isolation of Salmonella, Shigella and nine serotypes of enteropathogenic E. coli from rectal swab cultures obtained from infants and young children admitted to the Children's Hospital. The technic for the isolation and identification of enteropathogenic E. coli is described. A diagnostic polyvalent E. coli antiserum prepared in our laboratory was very helpful in the preliminary detection of nine serotypes of enteropathogenic E. coli. Salmonellae were isolated from 85 patients, Shigellae from 88 and one of the nine serotypes of enteropathogenic E. coli from each of 188 patients. Seventeen serotypes of Salmonella were isolated from 85 patients. Salmonella sp. (Type oranienburg) and Sal. typhimurium were isolated most frequently. Shigellae were isolated from a total of 88 patients; Sh. sonnei from 53 and five serotypes of Sh. flexneri from 35 patients. One of the nine serotypes of enteropathogenic E. coli was isolated from each of 188 patients. E. coli 055:B5 was detected in cultures from 63 patients and was detected most frequently. E. coli 0111:B4, 0126:B16 and 026:B6 were found next most frequently. Of the 361 patients from whom Salmonella, Shigella or enteropathogenic E. coli were isolated, rectal swab cultures were obtained at the time of admission from 317. Of these, 287 (91%) were positive. The incidence of diarrhea in the three groups was comparable: 95% of the patients from whom Salmonellae were isolated, 98% of patients from whom Shigellae were isolated and 92% of patients harboring enteropathogenic E. coli. Infections due to Salmonella or enteropathogenic E. coli were more frequent in the first year of life and infections due to Shigella occurred more frequently in the second year of life. The majority of patients with diarrhea and with rectal swab cultures negative for Salmonella, Shigella and enteropathogenic E. coli were in the first year of life. The incidence of Salmonella infections did not show any seasonal predominance; the Shigella infections were most frequent in September and October and the enteropathogenic E. coli infections in November and October. The highest incidence of diarrheal infections among patients whose rectal swab cultures were negative for these three groups of bacteria occurred in December and January of each of the 2 years of this study. The incidence of enteropathogenic E. coli infections exceeded those due to Shigella or Salmonella during 15 of the 24 months of this study. Sporadic infections due to these three groups of bacteria occurred throughout the 2-year period. Successive and/or multiple infections with Salmonella, Shigella or enteropathogenic E. coli occurred in 15 paients. Infection with one serotype of enteropathogenic E. coli did not protect seven patients from subsequent infection with another serotype. The convalescent carrier rate was 36.6% for the patients with Salmonella infections, 2.6% for those with Shigella infections and 8.3% for those from whom enteropathogenic E. coli had been isolated. The mortality rate was 1.2% among patients with Salmonella infections and 1.6% among the patients from whom enteropathogenic E. coli had been isolated. None of the patients with Shigella infections died. The large number of patients, 889, with diarrhea and with rectal swab cultures negative for Salmonella, Shigella and enteropathogenic E. coli indicates a need for continued investigation into the etiology of diarrhea in infants and young children.

scholarly journals Early and lethal neurodegeneration with myasthenic and myopathic features

Neurology ◽  
2017 ◽  
Vol 89 (7) ◽  
pp. 657-664 ◽  
Author(s):  
David C. Schorling ◽  
Simone Rost ◽  
Dirk J. Lefeber ◽  
Lauren Brady ◽  
Clemens R. Müller ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Clinical Phenotype ◽  
Cerebral Atrophy ◽  
First Year ◽  
Genetic Syndrome ◽  
Electrophysiologic Testing ◽  
Whole Exome ◽  
Heterozygous Carriers ◽  
First Year Of Life

Objective:To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.Methods:This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation.Results:All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. Three patients had congenital contractures. All patients died during their first year of life. In 2 of our patients, electrophysiologic testing showed abnormal decrement, but treatment with pyridostigmine led only to temporary improvement. Causative mutations in ALG14 were identified in all patients. The mutation c.220 G>A (p.Asp74Asn) was homozygous in 2 patients and heterozygous in the other 3 patients. Additional heterozygous mutations were c.422T>G (p.Val141Gly) and c.326G>A (p.Arg109Gln). In all cases, parents were found to be heterozygous carriers. None of the identified variants has been described previously.Conclusions:We report a genetic syndrome combining myasthenic features and severe neurodegeneration with therapy-refractory epilepsy. The underlying cause is a glycosylation defect due to mutations in ALG14. These cases broaden the phenotypic spectrum associated with ALG14 congenital disorders of glycosylation as previously only isolated myasthenia has been described.

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