Subject(s)
Neoplasms , Spirituality , Terminal Care , Humans , Neoplasms/psychology , Neoplasms/therapy , Adolescent , Child , Terminal Care/psychology , Female , MaleSubject(s)
Divorce , Neoplasms , Humans , Divorce/psychology , Neoplasms/psychology , Child , Risk Factors , Female , Male , Parents/psychology , Adolescent , Adult , Child, PreschoolSubject(s)
Adaptation, Psychological , Neoplasms , Humans , Neoplasms/psychology , History, 21st Century , History, 20th Century , ReligionSubject(s)
Bibliotherapy , Neoplasms , Humans , Neoplasms/therapy , Child , Adolescent , Bibliotherapy/methods , Male , FemaleABSTRACT
The above article published in Journal of Pediatric Intensive Care on November 21, 2022 (DOI: 10.1055/s-0042-1758739), has been retracted as it is lacking scientific base.
ABSTRACT
The above article published in Journal of Pediatric Genetics in Volume 12, Number 02 (DOI: 10.1055/s-0043-1761268), has been retracted as it is lacking scientific base.
ABSTRACT
An investigation by the publisher found a number of articles, including this one, published in Journal of Pediatric Genetics in Volume 12, Number 03, 185-186, in September 2023 (DOI: 10.1055/s-0043-1764300), with a number of concerns, including but not limited to undeclared conflicts of interest and manipulated peer review procedures. As a result, the publisher has retracted and removed this article.
ABSTRACT
An investigation by the publisher found a number of articles, including this one, published in Journal of Pediatric Genetics in Volume 12, Number 02, 95-96, in June 2023 (DOI: 10.1055/s-0042-1759781), with a number of concerns, including but not limited to undeclared conflicts of interest and manipulated peer review procedures. As a result, the publisher has retracted and removed this article.
ABSTRACT
Lenz-Majewski hyperostotic dwarfism (LMHD) is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, dysmorphic facial features, brachydactyly, symphalangism and cutis laxa. Nineteen cases have been reported in the literature so far, eleven of them with PTDSS1 mutations. Although studies have had clinically similar findings, in some cases the authors have reported even rarer features such as hydrocephalus, facial paralysis, and cleft palate. We, hereby, report the case of the first patient with Lenz-Majewski syndrome (LMS) with molecular confirmation from Turkey. Although our patient had characteristic features described in the literature, she also had immunodeficiency, which has not been reported before. Although there is no established phenotype-genotype correlation, molecular mechanisms can be explained with the reporting of more patients.
Subject(s)
Abnormalities, Multiple , Bone Diseases, Developmental , Intellectual Disability , Otitis Media , Short Rib-Polydactyly Syndrome , Female , Humans , Intellectual Disability/genetics , Bone Diseases, Developmental/geneticsABSTRACT
Intellectual disability is characterized by impairment in at least two of the following areas: social skills, communication skills, self-care tasks, and academic skills. These impairments are evaluated in relation to the expected standards based on the individual's age and cultural levels. Additionally, intellectual disability is typically defined by a measurable level of intellectual functioning, represented by an intelligence quotients core of 70 or below. Autism spectrum disorder is a developmental disability resulting from differences in the brain, often characterized by problems in social communication and interaction, and limited or repetitive behaviors or interests. Hereditary spherocytosis is a disease characterized by anemia, jaundice, and splenomegaly as a result of increased tendency to hemolysis with morphological transformation of erythrocytes from biconcave disc-shaped cells with central pallor to spherocytes lacking central pallor due to hereditary injury of cellular membrane proteins. An 11-year-old female patient was referred to Pediatric Genetics Subdivision due to the presence of growth retardation and a diagnosis of hereditary spherocytosis. Since she also had dysmorphic facial features, such as frontal bossing, broad and prominent forehead, tubular nasal structure, and thin vermillion, genetic tests were performed. Chromosomal microarray analysis revealed a 2.5â Mb deletion in the 14q23.2q23.3 region. Deletion was also identified in the same region in her father, who had the same phenotypic characteristics, including hereditary spherocytosis and learning difficulties. We propose that the PLEKHG3 and AKAP5 genes, which are located in this region, may contribute to the development of intellectual disability.
Subject(s)
Chromosome Deletion , Haploinsufficiency , Intellectual Disability , Humans , Intellectual Disability/genetics , Female , Child , Haploinsufficiency/genetics , A Kinase Anchor Proteins/genetics , Spherocytosis, Hereditary/geneticsSubject(s)
Adaptation, Psychological , Neoplasms , Parents , Humans , New Zealand , Child , Neoplasms/psychology , Parents/psychology , Female , Male , Adult , AdolescentABSTRACT
Abstract Background: Headache represents the most common neurologic symptom in children. In this study, we investigated the relationship between watching television, listening to music with headphones, smartphone, tablet, and computer use, and primary headaches in children. We aimed to determine whether primary headache in children is associated with excessive use of digital display devices and headphones and whether reducing the use of digital display devices and headphones affects primary headache. Methods: The study included 69 children with primary headaches and 64 with no headaches as a control group. All subjects were evaluated for demographic and headache characteristics and the use of digital display devices and headphones. Our recommendation for patients and families was to decrease the use of digital display devices and headphones, and the headache burden was re-evaluated after one month. Results: Headache frequency was more common in patients who watched television and used smartphones or tablets for more than 6 hours per day. Using a smartphone or tablet for more than 3 hours daily was more common in the study group than the control group. Headache frequency decreased in all patients one month after the digital imaging device and headphones were restricted. Conclusions: Watching television and using a smartphone or tablet strongly associates with primary headaches during childhood.
Resumen Introducción: La cefalea representa el síntoma neurológico más común en los niños. En este estudio se investigó la relación entre ver televisión, escuchar música con auriculares, el uso del teléfono inteligente o tableta y computadora y el dolor de cabeza primario en niños. Nuestro objetivo fue determinar la asociación entre la cefalea primaria en niños y el uso excesivo de dispositivos de visualización digital y auriculares, y el efecto de la disminución del uso de dispositivos de visualización digital y auriculares sobre la cefalea primaria. Métodos: El estudio incluyó a 69 niños con cefaleas primarias y 64 niños sin cefaleas como grupo control. Se evaluaron las características demográficas y de dolor de cabeza y uso de dispositivos de visualización digital y auriculares de los participantes. Se aconsejó a los pacientes y familiares que disminuyeran el uso del dispositivo de pantalla digital y los auriculares y se volvió a evaluar la carga de dolor de cabeza después de 1 mes. Resultados: La frecuencia de la cefalea fue más frecuente en los pacientes que veían televisión y utilizaban un teléfono inteligente o una tableta más de 6 horas al día. El uso de más de 3 horas al día fue más común en el grupo de estudio que en el grupo control. La frecuencia del dolor de cabeza disminuyó en todos los pacientes 1 mes después de la restricción del dispositivo de imagen digital y los auriculares. Conclusiones: Ver la televisión y el uso de un teléfono inteligente o tableta se asocian estrechamente con el dolor de cabeza primario en la infancia.