scholarly journals Water Balance and ‘Salt Wasting' in the First Year of Life: The Role of Aldosterone-Signaling Defects

2016 ◽  
Vol 86 (3) ◽  
pp. 143-153 ◽  
Author(s):  
Carla Bizzarri ◽  
Stefania Pedicelli ◽  
Marco Cappa ◽  
Stefano Cianfarani
Keyword(s):  
Water Balance ◽  
First Year ◽  
Salt Wasting ◽  
First Year Of Life

scholarly journals Acute Bronchiolitis: Is There a Role for Lung Ultrasound?

Diagnostics ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. 172 ◽  
Author(s):  
Di Mauro ◽  
Ammirabile ◽  
Quercia ◽  
Panza ◽  
Capozza ◽  
...  
Keyword(s):  
Clinical Management ◽  
Lung Ultrasound ◽  
Ultrasound Examination ◽  
Diagnostic Algorithm ◽  
Current Evidence ◽  
Radiographic Examination ◽  
First Year ◽  
Pubmed Database ◽  
First Year Of Life

Introduction: Viral bronchiolitis is a common cause of lower respiratory tract infection in the first year of life, considered a health burden because of its morbidity and costs. Its diagnosis is based on history and physical examination and the role of radiographic examination is limited to atypical cases. Thus far, Lung Ultrasound (LUS) is not considered in the diagnostic algorithm for bronchiolitis. Methods: PubMed database was searched for trials reporting on lung ultrasound examination and involving infants with a diagnosis of bronchiolitis. Results: Eight studies were suitable. Conclusions: This review analyzed the current evidence about the potential usefulness of LUS in the clinical management of bronchiolitis. Literature supports a peculiar role of LUS in the evaluation of the affected children, considering it as a reliable imaging test that could benefit the clinical management of bronchiolitis.

scholarly journals Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose

2017 ◽  
Vol 89 (1) ◽  
pp. 7-12 ◽  
Author(s):  
Walter Bonfig ◽  
Friedhelm Roehl ◽  
Stefan Riedl ◽  
Jürgen Brämswig ◽  
Annette Richter-Unruh ◽  
...  
Keyword(s):  
Sodium Chloride ◽  
Congenital Adrenal Hyperplasia ◽  
Routine Care ◽  
Sodium Content ◽  
Adrenal Crisis ◽  
First Year ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
First Year Of Life ◽  
Oral Sodium

Introduction: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. Objective: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. Results: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males). Of these, 86 patients (27.7%) received oral sodium chloride supplementation in a mean dose of 0.9 ± 1.4 mmol/kg/day (excluding nutritional sodium content) during the first year of life. 225 patients (72.3%) were not treated with sodium chloride. The percentage of sodium chloride-supplemented patients rose from 15.2% in children born 1999–2004 to 37.5% in children born 2011–2015. Sodium chloride-supplemented and -unsupplemented infants did not significantly differ in hydrocortisone and fludrocortisone dose, target height-corrected height-SDS, and BMI-SDS during the first 2 years of life. Conclusion: In the AQUAPE CAH database, approximately one-third of infants with salt-wasting CAH receive sodium chloride supplementation. Sodium chloride supplementation is performed more frequently in recent years. However, salt supplementation had no influence on growth, daily fludrocortisone and hydrocortisone dose, and frequency of adrenal crisis.

No perceptual reorganization for Limburgian tones? A cross-linguistic investigation with 6- to 12-month-old infants

2017 ◽  
Vol 45 (2) ◽  
pp. 290-318 ◽  
Author(s):  
STEFANIE RAMACHERS ◽  
SUSANNE BROUWER ◽  
PAULA FIKKERT
Keyword(s):  
Language Acquisition ◽  
First Year ◽  
Lexical Tone ◽  
Linguistic Experience ◽  
Tone Languages ◽  
First Year Of Life ◽  
Visual Habituation ◽  
Degree Of Similarity

AbstractDespite the fact that many of the world's languages use lexical tone, the majority of language acquisition studies has focused on non-tone languages. Research on tone languages has typically investigated well-known tone languages such as Mandarin and Cantonese Chinese. The current study looked at a Limburgian dialect of Dutch that uses lexical pitch differences, albeit in a rather restricted way. Using a visual habituation paradigm, 6- to 12-month-old Limburgian and Dutch infants were tested for their ability to discriminate Limburgian tones. The results showed that both Limburgian and Dutch infants discriminate the Limburgian tones throughout their first year of life. The role of linguistic experience, acoustic salience, and the degree of similarity to the native prosodic system are discussed.

scholarly journals Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

2021 ◽  
Vol 12 ◽  
Author(s):  
Gianluca Piccolo ◽  
Giuseppe d'Annunzio ◽  
Elisabetta Amadori ◽  
Antonella Riva ◽  
Paola Borgia ◽  
...  
Keyword(s):  
Genetic Basis ◽  
First Year ◽  
Arthrogryposis Multiplex Congenita ◽  
Neurodevelopmental Delay ◽  
Pathogenic Variants ◽  
Phenotypic Spectrum ◽  
Distal Muscle ◽  
Neurodevelopmental Impairment ◽  
First Year Of Life

Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2, encoding a C4H2 type zinc-finger nuclear factor abundantly expressed in the developing human brain. The main clinical features described in WWS families carrying ZC4H2 pathogenic variants encompass having a short stature, microcephaly, birth respiratory distress, arthrogryposis, hypotonia, distal muscle weakness, and broad neurodevelopmental delay. We hereby report a Sicilian family with a boy clinically diagnosed with WWS and genetically investigated with exome sequencing (ES), leading to the identification of a c.593G>A (p. R198Q) hemizygous pathogenic variant in the ZC4H2 gene. During the first year of life, the onset of central hypoadrenalism led to recurrent hypoglycemic events, which likely contributed to seizure susceptibility. Also, muscle biopsy studies confirmed a pathology of the muscle tissue and revealed peculiar abnormalities of the neuromuscular junction. In conclusion, we expand the phenotypic spectrum of the WWS-related neurodevelopmental disorders and discuss the role of ZC4H2 in the context of the potential neuroendocrinological and neuromuscular features associated with this condition.

scholarly journals XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil

2022 ◽  
Vol 12 ◽  
Author(s):  
Ligia Pereira Castro ◽  
Danilo Batista-Vieira ◽  
Tiago Antonio de Souza ◽  
Ana Rafaela de Souza Timoteo ◽  
Jessica Dayanna Landivar Coutinho ◽  
...  
Keyword(s):  
Xeroderma Pigmentosum ◽  
High Throughput Sequencing ◽  
First Year ◽  
Genetic Condition ◽  
Genetic Cluster ◽  
High Incidence ◽  
Comoro Island ◽  
First Year Of Life ◽  
Defective Dna Repair

Xeroderma pigmentosum (XP) is a rare genetic condition in which exposure to sunlight leads to a high tumor incidence due to defective DNA repair machinery. Herein, we investigated seven patients clinically diagnosed with XP living in a small city, Montanhas (Rio Grande do Norte), in the Northeast region of Brazil. We performed high-throughput sequencing and, surprisingly, identified two different mutated genes. Six patients carry a novel homozygote mutation in the POLH/XPV gene, c.672_673insT (p.Leu225Serfs*33), while one patient carries a homozygote mutation in the XPC gene, c.2251-1G>C. This latter mutation was previously described in Southeastern Africa (Comoro Island and Mozambique), Pakistan, and in a high incidence in Brazil. The XP-C patient had the first symptoms before the first year of life with aggressive ophthalmologic tumor progression and a melanoma onset at 7 years of age. The XP-V patients presented a milder phenotype with later onset of the disorder (mean age of 16 years old), and one of the six XP-V patients developed melanoma at 72 years. The photoprotection is minimal among them, mainly for the XP-V patients. The differences in the disease severity between XP-C (more aggressive) and XP-V (milder) patients are obvious and point to the major role of photoprotection in the XPs. We estimate that the incidence of XP patients at Montanhas can be higher, but with no diagnosis, due to poor health assistance. Patients still suffer from the stigmatization of the condition, impairing diagnosis, education for sun protection, and medical care.

scholarly journals Things that can be changed in early intervention in childhood

2015 ◽  
Vol 68 (7-8) ◽  
pp. 267-272 ◽  
Author(s):  
Spela Golubovic ◽  
Jasminka Markovic ◽  
Lidija Perovic
Keyword(s):  
Early Intervention ◽  
First Year ◽  
Early Age ◽  
Special Educator ◽  
Professional Help ◽  
Early Intervention Services ◽  
Rehabilitation Professionals ◽  
Novi Sad ◽  
First Year Of Life

Introduction. Early intervention implies a model of support focused on a child, family and a broader community from early childhood. The aim of this study was to analyze the elements of the successful early intervention in childhood, as well as to assess the role of a special educator and rehabilitator and level of their involvement in implementing the program on the territory of Novi Sad. Material and Methods. The study sample included 100 parents of children with disabilities (aged 3-7), who completed the questionnaire designed for the purposes of this research, based on a similar questionnaire design. Results. Speech delay is one of the most common reasons (over 50%) why parents seek professional help. By the end of the first year of life of their child, 43% of parents responded that they had noticed the first problems, that is, a problem was identified in 25% of children of this age group, and the same number was included in the treatment. About 55% of children were involved in organized treatment from 3 years of age onwards. Special educators and rehabilitators are usually involved in treatment when the team consists of three or more professionals. Conclusions. It is necessary to improve early intervention services, to educate staff, and provide conditions which would make it possible to overcome the existing disadvantages in treating children from an early age. In addition, the involvement of special education and rehabilitation professionals in treatment teams since children?s early age is vital.

Hox and Tale transcription factors in heart development and disease

2018 ◽  
Vol 62 (11-12) ◽  
pp. 837-846 ◽  
Author(s):  
Fabienne Lescroart ◽  
Stephane Zaffran
Keyword(s):  
Transcription Factors ◽  
Congenital Heart Defects ◽  
Heart Development ◽  
Congenital Heart ◽  
Hox Genes ◽  
Heart Defects ◽  
First Year ◽  
First Year Of Life ◽  
Cardiac Mesoderm

Hox genes are highly conserved transcription factors with critical functions during development, in particular for patterning the antero-posterior axis of the embryo. Their action is very often associated with cofactors including the TALE family transcription factors. From Drosophila to vertebrates, Hox genes have been shown to have a major role in heart development. In this review, we focus on the increasing evidence implicating the anterior Hox genes and the Tale family members during heart development both in the cardiac mesoderm and in neural crest cells. Congenital heart defects are the leading cause of death in the first year of life and a better understanding of the role of Hox and Tale factors is highly relevant to human pathologies and will provide novel mechanistic insights into the underlying defects.

The Emergence of Intentional Communication in Ontogeny, Phylogeny, and Pathology

1997 ◽  
Vol 2 (3) ◽  
pp. 216-225 ◽  
Author(s):  
Luigia Camaioni
Keyword(s):  
Children With Autism ◽  
First Year ◽  
Gestural Communication ◽  
Human Infants ◽  
Intentional Communication ◽  
Communicative Development ◽  
Language And Social Interaction ◽  
First Year Of Life ◽  
Special Case

The emergence of intentional gestural communication around the end of the first year of life is widely recognized as a basic milestone in the infant's communicative development. Two types of comparison are carried out in this paper. The first comparison concerns the gestural communication of human infants and of our nearest primate relatives, the apes, and especially the well-studied chimpanzees. The second comparison considers a special case of gestural communication, namely children with autism, who fail to develop some important forms of communication, language, and social interaction that normal infants develop in the first 2 years of life. In seeking to explain the patterns of similarities and differences derived from these two comparisons, the possible role of several developmental processes will be considered and evaluated: social sensitivity, sensitivity to eye contact and gaze, understanding of agency, and understanding of subjectivity.

Oculocardiac Reflex in Near Miss for Sudden Infant Death Syndrome Infants

PEDIATRICS ◽  
1983 ◽  
Vol 71 (1) ◽  
pp. 49-52 ◽  
Author(s):  
André Kahn ◽  
Jalil Riazi ◽  
Denise Blum
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Near Miss ◽  
Cardiac Response ◽  
Control Group ◽  
Sudden Infant ◽  
First Year ◽  
First Year Of Life

To gain insight into the role of the vagus nerve in sudden infant death syndrome (SIDS), 180 infants ranging in age from 1 to 66 weeks were examined with respect to cardiac response to ocular compression. There were 35 near-miss infants, 76 normal siblings of SIDS victims, and 69 normal control infants. Asystoles within the control group ranged from 0.3 to 1.8 seconds. Ten of 35 (28%) near-miss infants and 10/76 (13%) siblings had asystoles >2.0 seconds when first tested. When statistically compared, the near-miss infants were significantly different from both the control infants and the siblings (Kruskal-Wallis procedure: P < .01, and P < .05, respectively). It is concluded that in the first year of life a significant number of near-miss infants have an exaggerated cardiac response to ocular compression. Furthermore, the presence of prolonged asystoles in certain siblings indicates that vagal hypersensitivity, as manifested by ocular compression, may be, in part, hereditary.

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