Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.

Fuente:Molecular Genetics & Genomic Medicine

Extracto: Both patients were clinically diagnosed with Cornelia de Lange syndrome 3 (CdLS3). The newly identified SMC3 gene variants can expand the understanding of CdLS3 and provide reliable evidence for genetic counseling to the affected family.

Claves:SMC3, CdLS3, Cornelia de Lange syndrome, mosaic

Cita:Mol Genet Genomic Med 2024 May; 12 (5) : e2447.

Autor/es:Lei, Zhi (a)
Song, Xiaorui (b)

institución:(a) Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou Children's Hospital, Zhengzhou, Henan, China.
(b) Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou Children's Hospital, Zhengzhou, Henan, China.

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

Formato:Informe impreso

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1002/mgg3.2447

Bilateral Prefrontal Cortex Blood Flow Dynamics during Silent and Oral Reading Using Near-Infrared Spectroscopy.

Fuente:The Journal of Medical Investigation Jmi

Extracto: 71 : 92-101, February, 2024.

Claves:developmental dyslexia, frontal lobe, near-infrared spectroscopy (NIRS), oral and silent reading

Cita:J Med Invest 2024; 71 (1.2) : 92-101.

Autor/es:Nozaki, Natsue (a)
Mori, Kenji (b)

institución:(a) PhD Student, Graduate School of Health Sciences, Tokushima University, Tokushima, Japan.
(b) Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Japón

Sitio web:http://dx.doi.org/10.2152/jmi.71.92

Machine Learning for Clinical Decision Support of Acute Streptococcal Pharyngitis: A Pilot Study.

Fuente:The Israel Medical Association Journal Imaj

Tipo de trabajo:Guía

Extracto: Applying the machine-learning strategy resulted in a high positive predictive value for the detection of streptococcal pharyngitis and can contribute as a medical decision aid in the diagnosis and treatment of GAS-P.

Cita:Isr Med Assoc J 2024 May; 26 (5) : 299-303.

Autor/es:Hoffer, Oshrit (a)
Cohen, Moriya (b)

institución:(a) Department of Electrical Engineering, Afeka Tel Aviv, Academic College of Engineering, Tel Aviv.
(b) Department of Microbiology, Ariel University, Ariel, Israel.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Israel

Sitio web:

Recurrent and novel fusions detected by targeted RNA sequencing as part of the diagnostic workflow of soft tissue and bone tumours.

Fuente:The Journal of Pathology. Clinical Research

Extracto: Overall, targeted RNA-seq has proven extremely valuable in the diagnostic workflow of soft tissue and bone tumours.

Claves:FISH, RNA‐seq, bone tumours, sarcomas, soft tissue tumours

Cita:J Pathol Clin Res 2024 May; 10 (3) : e12376.

Autor/es:Zago Baltazar, Rafael (a)
Claerhout, Sofie (b)

institución:(a) Department of Human Genetics, University Hospitals KU Leuven, Leuven, Belgium.
(b) Department of Human Genetics, University Hospitals KU Leuven, Leuven, Belgium.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1002/2056-4538.12376

Management of a large traumatic hemipelvectomy defect following a truck crush injury

Fuente:Ulusal Travma Ve Acil Cerrahi Dergisi = Turkish Journal of Trauma & Emergency Surgery Tjtes

Tipo de trabajo:Caso clínico

Extracto: Familiarization with the principles discussed here is crucial to minimizing mortality rates and optimizing outcomes for this rare injury.

Cita:Ulus Travma Acil Cerrahi Derg 2024 May; 30 (5) : 370-373.

Autor/es:Temizsoy, Mutluhan (a)
Sakarya, Ahmet Hamdi (b)

institución:(a) Department of Plastic, Reconstructive and Aesthetic Surgery, Marmara University Faculty of Medicine, İstanbul-Türkiye.
(b) Department of Plastic, Reconstructive and Aesthetic Surgery, Marmara University Faculty of Medicine, İstanbul-Türkiye.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Turquía

Sitio web:http://dx.doi.org/10.14744/tjtes.2024.64226

Children and adolescents hospitalized with chronic conditions: sleep patterns, resilience and quality of life.

Fuente:Revista Da Escola de Enfermagem Da U S P

Extracto: Children and adolescents hospitalized with chronic conditions experience significant sleep disturbances and have a low quality of life, but have satisfactory levels of resilience.

Cita:Rev Esc Enferm USP 2024; 58 : e20230363.

Autor/es:Xavier, Welker da Silva (a)
Nunes, Michelle Darezzo Rodrigues (b)

institución:(a) Universidade do Estado do Rio de Janeiro, Faculdade de Enfermagem, Rio de Janeiro, RJ, Brazil.
(b) Universidade do Estado do Rio de Janeiro, Faculdade de Enfermagem, Rio de Janeiro, RJ, Brazil.

Formato:Informe virtual

Idioma:eng, por

País de fuente:Brasil

Sitio web:http://dx.doi.org/10.1590/1980-220X-REEUSP-2023-0363en

Evaluating the Feasibility, Acceptance, and Beneficial Effects of Online Occupational Therapy for Post-COVID-19 Condition: Protocol for a Randomized Controlled Trial (ErgoLoCo Study).

Fuente:Jmir Research Protocols

Tipo de trabajo:Estudio aleatorizado y controlado

Extracto: Despite the enormous clinical need, effective and scalable treatment options for OT clients who have PCS remain scarce. The ErgoLoCo study will assess whether online-delivered OT is a feasible treatment approach in PCS. Furthermore, this study will assess the effect of the intervention on cognitive symptoms, QoL, and occupational performance and participation in everyday life. Particular emphasis will be placed on the experiences of clients and occupational therapists with digitally delivered OT. This study will pave the way for novel and effective treatment strategies in PCS. TRIAL REGISTRATION: German Clinical Trial Registry DRKS00029990; https://drks.de/search/de/trial/DRKS00029990. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/50230.

Claves:COVID-19, RCT, SARS-CoV-2, acceptability, cognitive deficits, controlled trials, digital health, digital intervention, effectiveness, feasibility, internet based, long Covid, occupational therapy, online therapy, online treatment, pandemic, post COVID-19 condition, prerecorded, randomized controlled trial, video

Cita:JMIR Res Protoc 2024 May 13; 13 : e50230.

Autor/es:Müllenmeister, Christina (a)
Stoelting, Andrea (b)

institución:(a) Department of General Practice, University Medical Center Goettingen, Goettingen, Germany.
(b) Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Canadá

Sitio web:http://dx.doi.org/10.2196/50230

Diet's Cariogenicity and Healthfulness Index (DCHI) - A Novel, Comprehensive Index for Children.

Fuente:Indian Journal of Dental Research Official Publication of Indian Society For Dental Research

Extracto: The current scientific paper presents a novel Diet's Cariogenicity and Healthfulness Index that assesses the cariogenicity and healthfulness of a child's diet objectively to guide the professional to achieve a logical diet modification.

Cita:Indian J Dent Res 2023 Oct 1; 34 (4) : 381-386.

Autor/es:Shanbhog, Raghavendra (a)
Chanchala, H P (b)

institución:(a) Department of Pediatric and Preventive Dentistry, JSS Dental College and Hospital, JSSAHER, Mysuru, Karnataka, India.
(b) Department of Pediatric and Preventive Dentistry, JSS Dental College and Hospital, JSSAHER, Mysuru, Karnataka, India.

Formato:Informe impreso

Idioma:Inglés

País de fuente:India

Sitio web:http://dx.doi.org/10.4103/ijdr.ijdr_186_21

Salivary Biomarker Levels in Children with Sleep Problems Before and After Twin Block Therapy.

Fuente:Indian Journal of Dental Research Official Publication of Indian Society For Dental Research

Extracto: The measurement of TNF-α and MDA could be used as an alternative and noninvasive method to evaluate prognosis of twin block therapy for children with sleep-disordered breathing (SDB).

Cita:Indian J Dent Res 2023 Oct 1; 34 (4) : 391-395.

Autor/es:Bhosale, Trupti Balasaheb (a)
Shetty, Vabitha (b)

institución:Bhosale, Trupti Balasaheb (a)
Shetty, Vabitha (b)

Formato:Informe impreso

Idioma:Inglés

País de fuente:India

Sitio web:http://dx.doi.org/10.4103/ijdr.ijdr_88_23

Correlation between benign joint hypermobility syndrome and headache in children and adolescents.

Correlation between benign joint hypermobility syndrome and headache in children and adolescents.

Fuente:Bmc Musculoskeletal Disorders

Extracto: This study showed a significant correlation between BJHS and headache (especially migraine) in children and adolescents.

Claves:Benign joint hypermobility syndrome, Children, Headache

Cita:BMC Musculoskelet Disord 2024 May 2; 25 (1) : 347.

Autor/es:Jari, Mohsen (a)
Alesaeidi, Sogol (b)

institución:(a) Department of Pediatric Rheumatology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran. mjari14@yahoo.com.
(b) School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

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/s12891-024-07473-3

Enablers and barriers to primary health care access for Indigenous adolescents

Enablers and barriers to primary health care access for Indigenous adolescents

Fuente:Bmc Health Services Research

Tipo de trabajo:Revisión sistemática

Extracto: This review provides important evidence to inform how services, organizations and governments can create accessible primary health care services that specifically meet the needs of Indigenous adolescents. We identify nine recommendations for improving the accessibility of primary health care services for Indigenous adolescents.

Claves:Adolescents, Australia, Canada, Indigenous peoples, New Zealand, Primary health care, United States of America

Cita:BMC Health Serv Res 2024 Apr 30; 24 (1) : 553.

Autor/es:Harfield, Stephen (a)
Purcell, Tara (b)

institución:(a) UQ Poche Centre for Indigenous Health, University of Queensland, St Lucia, Australia. s.harfield@uq.edu.au.
(b) School of Public Health, University of Queensland, Herston, Australia. s.harfield@uq.edu.au.

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/s12913-024-10796-5

Toward evidence-based communication on overweight body mass index and mortality.

Toward evidence-based communication on overweight body mass index and mortality.

Fuente:Bmc Medicine

Tipo de trabajo:Guía

Extracto: Health communication that inaccurately conveys current evidence may do more harm than good; this applies to communication from health authorities to health practitioners as well as to communication from health practitioners to individual patients. We give three recommendations to better align health communication with the current evidence. First, recommendations to the public and health practitioners should distinguish overweight from obese BMI and at this time should not describe overweight BMI as a risk factor for all-cause mortality. Second, primary care physicians' widespread misconceptions about overweight BMI should be rectified. Third, the evidence basis for other potential risks or benefits of overweight BMI should be rigorously examined and incorporated appropriately into health communication.

Claves:Evidence-based medicine, Obesity, Physician–patient communication, Public health

Cita:BMC Med 2024 May 1; 22 (1) : 183.

Autor/es:Mathur, Maya B (a)
Mathur, Vandana S (b)

institución:(a) Quantitative Sciences Unit and Department of Pediatrics, Stanford University, Porter Drive, Palo Alto, CA, 94304, USA. mmathur@stanford.edu.
(b) MathurConsulting LLC, Woodside, CA, USA.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12916-024-03402-2

Melanotic neuroectodermal tumor of infancy

Melanotic neuroectodermal tumor of infancy

Fuente:Journal of Medical Case Reports

Tipo de trabajo:Caso clínico

Extracto: MNTI should be considered as a differential diagnosis for tumors occurring in the head region in infants and prolonged follow-up may be needed to check for possible recurrence of the tumor.

Claves:Case report, Melanotic, Neuroectodermal, Tumor of infancy

Cita:J Med Case Rep 2024 May 2; 18 (1) : 230.

Autor/es:Asefa, Mesfin (a)
Hailu, Tedros (b)

institución:(a) Department of Pathology, St. Paul's Hospital Millennium Medical College (SPHMMC), Addis Ababa, Ethiopia. mesfin.asefa@sphmmc.edu.et.
(b) Department of Pediatrics, Medical Faculty, Tikur Anbesa Specialized Hospital, Addis Ababa University, Addis Ababa, Ethiopia.

Conflicto:The authors declare that there are no competing interests.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s13256-024-04550-y

Molecular and functional characterization of reversible-sunitinib-tolerance state in human renal cell carcinoma.

Molecular and functional characterization of reversible-sunitinib-tolerance state in human renal cell carcinoma.

Fuente:Journal of Cellular and Molecular Medicine

Extracto: Our study described molecular events contributing to the reversible switch into sunitinib-tolerance, providing possible novel therapeutic opportunities in RCC.

Claves:acquired drug‐tolerance, renal cell carcinoma, sunitinib, targeted therapy, tyrosine kinases

Cita:J Cell Mol Med 2024 May; 28 (9) : e18329.

Autor/es:Zaccagnino, Angela (a)
Vynnytska-Myronovska, Bozhena (b)

institución:(a) Department of Urology and Pediatric Urology, Saarland University, Homburg, Germany.
(b) Department of Urology and Pediatric Urology, Saarland University, Homburg, Germany.

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

Formato:Informe impreso

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1111/jcmm.18329

Relationship between perceived physical literacy and obesity-related outcomes in adolescents: the EHDLA study.

Relationship between perceived physical literacy and obesity-related outcomes in adolescents: the EHDLA study.

Fuente:Frontiers in Public Health

Extracto: Physical literacy could play a crucial role in maintaining more desirable obesity-related outcomes in adolescents. Adolescents with high perceived physical literacy showed lower obesity-related indicators (i.e., body mass index, body mass index z score, waist circumference, waist-to-height ratio, skinfolds), as well as a lower probability of having excess weight, obesity, and abdominal obesity.

Claves:adiposity, anthropometric indicators, body mass index, overweight, physical education, physical fitness, waist circumference, youths

Cita:Front Public Health 2024; 12 : 1321361.

Autor/es:Domínguez-Martín, Gabriel (a)
Tárraga-López, Pedro J (b)

institución:(a) Consejería de Educación, Region of Murcia, Murcia, Spain.
(b) Departamento de Ciencias Médicas, Facultad de Medicina, Universidad de Castilla-La Mancha, Albacete, Spain.

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/fpubh.2024.1321361

Alternative Augmentative Communication in paediatric dentistry: a mighty tool to amplify mother tongue's power.

Alternative Augmentative Communication in paediatric dentistry: a mighty tool to amplify mother tongue's power.

Fuente:European Journal of Paediatric Dentistry

Extracto: • The relationship with one's mother language plays a central role in children's growth and in the relationship they can develop with the world, "motherised" by the words of the caregiver. • The interaction between immigrant children from different linguistic and cultural backgrounds and dentists providing their care requires the integration of traditional paediatric dental techniques with AAC strategies that can compensate for deficient oral communication. • Dentists treating immigrant children should follow the suggestions proposed in this article to establish the best and most tailored paediatric setting for the child's specific needs.

Cita:Eur J Paediatr Dent 2024 Apr 1; 24 : 1.

Autor/es:Torchia, V (a)
Tettamanti, L (b)

institución:(a) Postgraduate School of Paediatric Dentistry, University of Insubria, Varese, Italy.
(b) Postgraduate School of Paediatric Dentistry, University of Insubria, Varese, Italy.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Italia

Sitio web:http://dx.doi.org/10.23804/ejpd.2024.2139

From diagnosis to intervention

From diagnosis to intervention

Fuente:Archives of Dermatological Research

Tipo de trabajo:Revisión

Extracto: Nevertheless, its role in facilitating the evaluation of skin malignancies is gaining recognition within the dermatologic community and fostering high approval rates from patients due to its practicality and ability to provide timely access to specialized care.

Claves:Artificial intelligence, Cutaneous malignancy, Diagnostic accuracy, Mohs surgery, Skin cancer, Teledermoscopy

Cita:Arch Dermatol Res 2024 May 2; 316 (5) : 139.

Autor/es:Mashoudy, Kayla D (a)
Perez, Sofia M (b)

institución:(a) University of Miami Miller School of Medicine, 1600 NW 10th Ave #1140, Miami, FL, 33136, USA. kmashoudy@med.miami.edu.
(b) University of Miami Miller School of Medicine, 1600 NW 10th Ave #1140, Miami, FL, 33136, USA.

Conflicto:The authors declare that they have no conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Alemania

Sitio web:http://dx.doi.org/10.1007/s00403-024-02884-7

IT-Related Barriers and Facilitators to the Implementation of a New European eHealth Solution, the Digital Survivorship Passport (SurPass Version 2.0): Semistructured Digital Survey.

IT-Related Barriers and Facilitators to the Implementation of a New European eHealth Solution, the Digital Survivorship Passport (SurPass Version 2.0): Semistructured Digital Survey.

Fuente:Journal of Medical Internet Research

Extracto: This study provides essential insights into the information and IT-related influencing factors that need to be considered when implementing the SurPass (version 2.0) in clinical practice. We recommend the adoption of Health Level Seven Fast Healthcare Interoperability Resources and data security measures such as encryption, pseudonymization, and multifactor authentication to protect personal health data where applicable. In sum, this study offers practical insights into integrating digital health solutions into existing EHISs.

Claves:SurPass, eHealth, Survivorship Passport, cancer survivors, information and technology, long-term follow up care, pediatric oncology, survivorship

Cita:J Med Internet Res 2024 May 2; 26 : e49910.

Autor/es:de Beijer, Ismay A E (a)
van den Oever, Selina R (b)

institución:(a) Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.
(b) Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Canadá

Sitio web:http://dx.doi.org/10.2196/49910

Perceptions and behaviors of healthcare providers towards rehabilitation support to children with severe malaria-related disability in Ethiopia: A qualitative descriptive study using the Theoretical Domains Framework.

Perceptions and behaviors of healthcare providers towards rehabilitation support to children with severe malaria-related disability in Ethiopia: A qualitative descriptive study using the Theoretical Domains Framework.

Fuente:Plos One

Tipo de trabajo:Guía

Extracto: The findings of this study suggest the need for interventions to support healthcare providers in acute phases (prevention and control of severe malaria) and post-acute phases (disability screening, referral, and rehabilitation care). Recommended interventions should focus on developing clinical guidelines, training clinicians, addressing institutional factors, and modifying external social influences such as socio-cultural factors.

Cita:PLoS One 2024; 19 (5) : e0298769.

Autor/es:Engeda, Eshetu Haileselassie (a)
Aldersey, Heather M (b)

institución:(a) Department of Pediatric and Child Health Nursing, School of Nursing, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
(b) Queen's University School of Rehabilitation Therapy, Kingston, Ontario, Canada.

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

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0298769

Relapses of juvenile idiopathic arthritis in adulthood: A monocentric experience.

Fuente:Plos One

Extracto: In JIA patients, the risk of relapse after transitioning to adult care remains high, irrespective of disease subtype and treatment. The main risk factor for the early occurrence of articular activity is monoarticular involvement.

Cita:PLoS One 2024; 19 (5) : e0298679.

Autor/es:Scagnellato, Laura (a)
Cozzi, Giacomo (b)

institución:(a) Rheumatology Unit, Department of Medicine DIMED, Padova University Hospital, Padova, Italy.
(b) Rheumatology Unit, Department of Medicine DIMED, Padova University Hospital, Padova, Italy.

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

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0298679