D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings

D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings

Fuente:International Journal of Molecular Sciences

Tipo de trabajo:Revisión

Extracto: We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling.

Claves:D-bifunctional protein deficiency, neonatal hypotonia, neonatal seizures, peroxisomal disorders, whole-exome sequencing

Cita:Int J Mol Sci 2024 Apr 30; 25 (9)

Autor/es:Ognean, Maria Livia (a)
Mutică, Ioana Bianca (b)

institución:(a) Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.
(b) Neonatology Department, Clinical County Emergency Hospital, 550245 Sibiu, Romania.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094924

The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.

Fuente:International Journal of Molecular Sciences

Extracto: Taken together, our findings suggest that a relatively common variant in CCDC78 can impart profound muscle pathology in combination with a LMNA mutation and accounts for variability in skeletal muscle disease phenotypes.

Claves:core myopathy, genetic modifiers, laminopathy, lamins, limb–girdle muscular dystrophy

Cita:Int J Mol Sci 2024 Apr 30; 25 (9)

Autor/es:Mohar, Nathaniel P (a)
Cox, Efrem M (b)

institución:(a) Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, IA 52242, USA.
(b) Department of Biochemistry and Molecular Biology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094930

Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.

Fuente:International Journal of Molecular Sciences

Extracto: This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation-inhibition imbalances and to anomalies in brain volumes.

Claves:autism spectrum disorder, brain imaging, electroencephalography, functional magnetic resonance imaging, magnetic resonance imaging, neurogenetics, neuroimaging, systematic review

Cita:Int J Mol Sci 2024 Apr 30; 25 (9)

Autor/es:Vilela, Joana (a)
Rasga, Célia (b)

institución:(a) Departamento de Promoção da Saúde e Doenças Não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, Avenida Padre Cruz, 1649-016 Lisboa, Portugal.
(b) BioISI-Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, Campo Grande, C8, 1749-016 Lisboa, Portugal.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094938

Evaluation of the Effect of Parenting Style and Parental Mealtime Actions on the Eating Behavior of Children with Epilepsy.

Evaluation of the Effect of Parenting Style and Parental Mealtime Actions on the Eating Behavior of Children with Epilepsy.

Fuente:Nutrients

Extracto: Owing to the chronic disease, the effects of parent-child interaction on the child's eating behavior in the epilepsy group differed from those of healthy children reported in the literature.

Claves:childhood epilepsy, children, diet quality, eating behavior, growth, parental eating-time actions, parenting practices, parenting style, parents, parents’ mealtime behaviors

Cita:Nutrients 2024 May 2; 16 (9)

Autor/es:Balcı, Tutku (a)
Çakır Biçer, Nihan (b)

institución:(a) Department of Nutrition and Dietetics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Atasehir, Istanbul, Turkey.
(b) Department of Nutrition and Dietetics, Faculty of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Içerenköy Mahallesi Kayisdagi Caddesi No. 32, 34752 Atasehir, Istanbul, Turkey.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/nu16091384

Antibiotic impregnated catheters and intrathecal antibiotics for CSF shunt infection prevention in children undergoing low-risk CSF shunt surgery.

Antibiotic impregnated catheters and intrathecal antibiotics for CSF shunt infection prevention in children undergoing low-risk CSF shunt surgery.

Fuente:Bmc Pediatrics

Tipo de trabajo:Estudio de cohortes

Extracto: In a large, observational multicenter cohort, IT antibiotics and AICs do not confer a statistically significant risk reduction compared to standard care for pediatric patients undergoing low-risk (i.e., initial or revision) shunt surgeries.

Claves:Antibiotic impregnated catheter, CSF, Hydrocephalus, Infection

Cita:BMC Pediatr 2024 May 11; 24 (1) : 325.

Autor/es:Podkovik, Stacey (a)
Zhou, Chuan (b)

institución:(a) Department of Neurological Surgery, Riverside University Health Sciences Medical Center, Riverside, CA, USA.
(b) Center for Child Health, Seattle Children's Research Institute, Behavior, and Development, Seattle, WA, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12887-024-04798-9

Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis.

Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis.

Fuente:Journal of Neuroinflammation

Extracto: These findings may lead to new therapeutic approaches targeting HIF1A in the development of TAMG.

Claves:Hypoxia-inducible factor-1, Myasthenia gravis, Thymoma, Thymus

Cita:J Neuroinflammation 2024 May 11; 21 (1) : 126.

Autor/es:Altınönder, İlayda (a)
Kaya, Mustafa (b)

institución:(a) Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey.
(b) Department of Physiology, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey.

Conflicto:None of the authors has any potential financial conflict of interest related to this manuscript.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12974-024-03095-7

Adults with cerebral palsy exhibit uncharacteristic cortical oscillations during an adaptive sensorimotor control task.

Adults with cerebral palsy exhibit uncharacteristic cortical oscillations during an adaptive sensorimotor control task.

Fuente:Scientific Reports

Extracto: These results may suggest that alterations in the theta and gamma cortical oscillations play a role in the altered hand dexterity and uncharacteristic adaptive sensorimotor control noted in adults with CP.

Claves:Brain imaging, Dexterity, Hand, Magnetoencephalography, Neuroimaging

Cita:Sci Rep 2024 May 11; 14 (1) : 10788.

Autor/es:Hinton, Erica H (a)
Busboom, Morgan T (b)

institución:(a) Institute for Human Neuroscience, Boys Town National Research Hospital, Omaha, NE, USA.
(b) Center for Pediatric Brain Health, Boys Town National Research Hospital, Boys Town, NE, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61375-x

Best practices for the management of febrile seizures in children.

Best practices for the management of febrile seizures in children.

Fuente:Italian Journal of Pediatrics

Extracto: Our thorough literature search resulted in a compilation of references, with carefully selected papers thoughtfully integrated into this review.

Claves:Children, Febrile seizure, Management, Prognostic factors, Recommendations for caregivers, Red flags

Cita:Ital J Pediatr 2024 May 12; 50 (1) : 95.

Autor/es:Ferretti, Alessandro (a)
Riva, Antonella (b)

institución:(a) Pediatrics Unit, Neurosciences, Mental Health and Sensory Organ (NESMOS) Department, Faculty of Medicine and Psychology, S. Andrea Hospital, Sapienza University, via di Grottarossa 1035/1039, Rome, 00189, Italy. alessandro.ferretti@uniroma1.it.
(b) IRCCS Giannina Gaslini, Genoa, Italy.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s13052-024-01666-1

Severe pertussis in infants

Severe pertussis in infants

Fuente:Annals of Medicine

Tipo de trabajo:Revisión

Extracto: The literature reviewed suggests that studies on severe pertussis in infants covered a variety of clinical concerns. However, these studies were observational, and experimental studies are needed to provide high-quality evidence.

Claves:Pertussis, infants, whooping cough

Cita:Ann Med 2024 Dec; 56 (1) : 2352606.

Autor/es:Guo, Shuai (a)
Zhu, Yu (b)

institución:(a) Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
(b) Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

Conflicto:No potential conflict of interest was reported by the author(s).

Formato:Informe impreso

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1080/07853890.2024.2352606

Hungarian general practice paediatricians' antibiotic prescribing behaviour for suspected respiratory tract infections: a qualitative study.

Hungarian general practice paediatricians' antibiotic prescribing behaviour for suspected respiratory tract infections: a qualitative study.

Fuente:Bmj Open

Extracto: Our findings suggest that a more prudent attitude toward antibiotic prescribing may have become more common but also highlight relevant gaps in both physicians' and public knowledge of antibiotics and AMR. To reinforce awareness and close remaining gaps, Hungary should adopt its national AMR National Action Plan and further increase its efforts towards active professional communication and feedback for primary care physicians.

Claves:GENERAL MEDICINE (see Internal Medicine), Health policy, Public health

Cita:BMJ Open 2024 May 10; 14 (5) : e081574.

Autor/es:Babarczy, Balázs (a)
Hajdu, Ágnes (b)

institución:(a) Syreon Research Institute, Budapest, Hungary.
(b) National Center for Public Health and Pharmacy, Budapest, Hungary.

Conflicto:Competing interests: The National Center for Public Health and Pharmacy received funding and language editing support from the WHO Regional Office for Europe, for conducting this piece of research and preparing this manuscript.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1136/bmjopen-2023-081574

Evaluation of serological assays for the diagnosis of childhood tuberculosis disease: a study protocol.

Evaluation of serological assays for the diagnosis of childhood tuberculosis disease: a study protocol.

Fuente:Bmc Infectious Diseases

Tipo de trabajo:Orientaciones y guía

Extracto: GOV IDENTIFIER: NCT03044509.

Claves:Antibody, Antigen, Childhood TB, Paediatric, Serodiagnosis, Serology

Cita:BMC Infect Dis 2024 May 10; 24 (1) : 481.

Autor/es:Neudecker, Daniela (a)
Fritisch, Nora (b)

institución:(a) Mycobacterial and Migrant Health Research Group, Department of Clinical Research, University of Basel Children's Hospital Basel, University of Basel, Spitalstrasse 33, Basel, CH-4031, Switzerland.
(b) Mycobacterial and Migrant Health Research Group, Department of Clinical Research, University of Basel Children's Hospital Basel, University of Basel, Spitalstrasse 33, Basel, CH-4031, Switzerland.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12879-024-09359-0

The Immune Response of OAS1, IRF9, and IFI6 Genes in the Pathogenesis of COVID-19.

The Immune Response of OAS1, IRF9, and IFI6 Genes in the Pathogenesis of COVID-19.

Fuente:International Journal of Molecular Sciences

Extracto: In conclusion, the relevance of OAS1, IRF9, and IFI6 in controlling the viral infection was confirmed.

Claves:COVID-19, SARS-CoV-2, antiviral genes, gene expression, immune response

Cita:Int J Mol Sci 2024 Apr 24; 25 (9)

Autor/es:Gajate-Arenas, Malena (a)
Fricke-Galindo, Ingrid (b)

institución:(a) Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias (IUETSPC), Universidad de La Laguna, 38029 San Cristóbal de La Laguna, Spain.
(b) HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosío Villegas, Mexico City 14080, Mexico.

Conflicto:The authors declare that this research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflicts of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094632

Differences in the Course, Diagnosis, and Treatment of Food Allergies Depending on Age-Comparison of Children and Adults.

Differences in the Course, Diagnosis, and Treatment of Food Allergies Depending on Age-Comparison of Children and Adults.

Fuente:Nutrients

Extracto: This article aims to systematize the latest knowledge and highlight the differences between food allergies in pediatric and adult populations.

Claves:IgE, anaphylaxis, basophil activation test, food allergy, lipid transfer protein, non-IgE mediated food allergy, omalizumab, oral food challenge test, oral immunotherapy, quality of life, skin prick test

Cita:Nutrients 2024 Apr 27; 16 (9)

Autor/es:Kuźniar, Julia (a)
Kozubek, Patrycja (b)

institución:(a) Student Scientific Group of Internal Medicine and Allergology, Wroclaw Medical University, 50-369 Wroclaw, Poland.
(b) Student Scientific Group of Internal Medicine and Allergology, Wroclaw Medical University, 50-369 Wroclaw, Poland.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/nu16091317

A mixed-methods study to investigate feasibility and acceptability of an early warning score for preterm infants in neonatal units in Kenya: results of the NEWS-K study Neonatal early warning scores in Kenya.

A mixed-methods study to investigate feasibility and acceptability of an early warning score for preterm infants in neonatal units in Kenya: results of the NEWS-K study Neonatal early warning scores in Kenya.

Fuente:Bmc Pediatrics

Extracto: Newborn unit infant to staff ratios varied between 10 and 53 staff per 1 infant, depending upon time of shift and staff type. A randomised trial of neonatal EWS in Kenya is possible and acceptable, though adaptations are required to the form before implementation.

Claves:Early warning score, Neonatal, Newborn unit

Cita:BMC Pediatr 2024 May 11; 24 (1) : 326.

Autor/es:Mitchell, Eleanor J (a)
Aluvaala, Jalemba (b)

institución:(a) Nottingham Clinical Trials Unit, School of Medicine, University of Nottingham, Nottingham, UK. Eleanor.mitchell@nottingham.ac.uk.
(b) Department of Paediatrics, University of Nairobi, Nairobi, Kenya.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12887-024-04778-z

Seasonal human coronavirus NL63 epidemics in children in Guilin, China, reveal the emergence of a new subgenotype of HCoV-NL63.

Seasonal human coronavirus NL63 epidemics in children in Guilin, China, reveal the emergence of a new subgenotype of HCoV-NL63.

Fuente:Frontiers in Cellular and Infection Microbiology

Extracto: Future studies are needed to further investigate the biological significance of the observed mutation and its potential impact on the virus's transmissibility and pathogenicity.

Claves:clinical characteristics, human coronavirus NL63, molecular epidemiology, new subgenotype, whole-genome sequencing

Cita:Front Cell Infect Microbiol 2024; 14 : 1378804.

Autor/es:Zhu, Renhe (a)
Cao, Rundong (b)

institución:(a) National Key Laboratory of Intelligent Tracking and Forecasting for Infectious Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.
(b) National Key Laboratory of Intelligent Tracking and Forecasting for Infectious Diseases, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, China.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fcimb.2024.1378804

Bilateral bartholin's gland abscesses in a 4-year-old girl with vitamin a deficiency

Bilateral bartholin's gland abscesses in a 4-year-old girl with vitamin a deficiency

Fuente:Bmc Infectious Diseases

Tipo de trabajo:Caso clínico

Extracto: Decreased immunocompetence and mucosal barrier function due to vitamin A deficiency is thought to be the underlying cause of Bartholin's gland abscesses. Although prepubertal Bartholin's gland abscesses have been reported, they are rare. To the best of our knowledge, no reports of bilateral Bartholin's gland abscesses potentially caused by vitamin A deficiency have been reported. When prepubertal girls present with Bartholin's gland abscesses, the presence of immunodeficiency due to vitamin or trace element deficiency should also be considered.

Claves:Prevotella bivia, Streptococcus constellatus, Bartholin’s gland abscesses, Case report, Infant

Cita:BMC Infect Dis 2024 May 11; 24 (1) : 487.

Autor/es:Kihara, Tomoko (a)
Kenzaka, Tsuneaki (b)

institución:(a) Department of Obstetrics, Hyogo Prefectural Kobe Children's Hospital, 1-6-7, Minatojimaminamimachi, Chuo-ku, Kobe, Hyogo, 650-0047, Japan. tomosukeusababy@gmail.com.
(b) Department of Internal Medicine, Hyogo Prefectural Tamba Medical Center, Tamba, Japan.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12879-024-09382-1

Carbohydrate-Mediated Pregnancy Gut Microbiota and Neonatal Low Birth Weight.

Carbohydrate-Mediated Pregnancy Gut Microbiota and Neonatal Low Birth Weight.

Fuente:Nutrients

Extracto: Microbiota-accessible carbohydrates can modify the composition and function of the pregnancy gut microbiota, thus providing a potential marker to modulate deviations from dietary patterns, particularly in women at risk of hypertension during pregnancy, to prevent neonatal LBW.

Claves:carbohydrates intake, fetal growth, gut microbiota, low birth weight, macronutrients, maternal health, pregnancy

Cita:Nutrients 2024 Apr 28; 16 (9)

Autor/es:Yu, Hong-Ren (a)
Yeh, Yao-Tsung (b)

institución:(a) Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital, Graduate Institute of Clinical Medical Science, Chang Gung University College of Medicine, Kaohsiung 833, Taiwan.
(b) Aging and Disease Prevention Research Center, Department of Medical Laboratory Sciences and Biotechnology, Fooyin University, Kaohsiung 831, Taiwan.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/nu16091326

Positive resection margins in Crohn's disease are a relevant risk factor for postoperative disease recurrence.

Positive resection margins in Crohn's disease are a relevant risk factor for postoperative disease recurrence.

Fuente:Scientific Reports

Extracto: Prospective studies are required to determine whether extended resection or postoperative medical prophylaxis is beneficial for patients with positive resection margins.

Claves:Crohn’s disease, Ileocecal resection, Postoperative disease recurrence

Cita:Sci Rep 2024 May 11; 14 (1) : 10823.

Autor/es:Kelm, Matthias (a)
Benatzky, Clara (b)

institución:(a) Department for General, Visceral, Transplant, Vascular and Pediatric Surgery, University Hospital of Würzburg, Oberduerrbacher Str., 697080, Würzburg, Germany.
(b) Department for General, Visceral, Transplant, Vascular and Pediatric Surgery, University Hospital of Würzburg, Oberduerrbacher Str., 697080, Würzburg, Germany.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61697-w

Calcium, Phosphate, and Vitamin D in Children and Adolescents with Chronic Diseases: A Cross-Sectional Study.

Calcium, Phosphate, and Vitamin D in Children and Adolescents with Chronic Diseases: A Cross-Sectional Study.

Fuente:Nutrients

Extracto: These results show the coincident risk of altered Ca, P, and Vit-D metabolism in children and adolescents with chronic diseases.

Claves:body fat percentage, energy expenditure, obesity, physical activity, undernutrition

Cita:Nutrients 2024 Apr 29; 16 (9)

Autor/es:Escobedo-Monge, Marlene Fabiola (a)
Bahillo-Curieses, Pilar (b)

institución:(a) Department of Pediatrics of the Faculty of Medicine, University of Valladolid, Avenida Ramón y Cajal, 7, 47005 Valladolid, Spain.
(b) Section of Pediatric Endocrinology, University Clinical Hospital of Valladolid, Avenida Ramón y Cajal, 7, 47005 Valladolid, Spain.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/nu16091349

Effectiveness of leuprolide acetate administered monthly compared to three-monthly in the treatment of central precocious puberty: evaluation at the end of treatment.

Effectiveness of leuprolide acetate administered monthly compared to three-monthly in the treatment of central precocious puberty: evaluation at the end of treatment.

Fuente:Frontiers in Endocrinology

Tipo de trabajo:Estudio de cohortes

Extracto: The 3-monthly treatment showed greater hormonal and growth suppression effects, but there was no significant difference in PAH between the two groups.

Claves:3-monthly formulation, central precious puberty, effectiveness, leuprolide acetate, monthly formulation

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1390674.

Autor/es:Thaneetrakool, Thanaporn (a)
Aroonparkmongkol, Suphab (b)

institución:(a) Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, ;Thailand.
(b) Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, ;Thailand.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1390674