Results 131 to 140 of about 112,890 (268)

Glutaric aciduria type 1 as a mimicker of abusive head trauma in the era of newborn screening. [PDF]

Child Abuse Negl
Lang SH, Shanghvi D, Divin K, Donaruma M, Sutton VR, Bachim A.   +5 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

The Swedish national guideline on immediate and uninterrupted skin-to-skin contact and mother-newborn couplet care. [PDF]

Front Pediatr
Klemming S, Seyed Alikhani V, Breding K, Bäcke P, Elvermark S, Gustafsson A, Hermansson Å, Jonsson E, Kjellqvist N, Mattisson M, Nelander M, Nilsson MC, Nyholm A, Lilliesköld S, Thernström Blomqvist Y, Wilson E, Arwehed S.   +16 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Deaths: Leading Causes for 2024.

Natl Vital Stat Rep
Tejada-Vera B, Bastian BA, Miniño AM.
europepmc   +1 more source

Effect of Automatic Infant Swing on Sleep-Wake Cycles and Comfort: A Randomized Controlled Study Protocol. [PDF]

Nurs Crit Care
Bolacali ET, Ertürk F, Özcan B, Kücükoğlu S.   +3 more
europepmc   +1 more source

Video‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review

Epilepsia, EarlyView.
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron, Robert Terziev, Maximilian Schöls, John McLaren, Tobias Loddenkemper, Jörg Wellmer, Sigrid Mues, Christian Meisel   +7 more
wiley   +1 more source

Maternal alcohol exposure and atopic dermatitis in offspring: A scoping review protocol. [PDF]

PLoS One
D'Souza PR, D'Souza PR.
europepmc   +1 more source

Severe skeletal fragility in SCN8A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized feature of the clinical spectrum associated with pathogenic SCN8A variants ...
Adélia Maria de Miranda Henriques‐Souza, Kette D. Valente   +1 more
wiley   +1 more source

Coverage and factors associated with receipt of early newborn postnatal care components in Afghanistan: findings from the 2022-2023 multiple indicator cluster survey. [PDF]

Glob Health Action
Tawfiq E, Stanikzai MH, Ezadi Z, Jafari M, Dadras F, Dadras O.   +5 more
europepmc   +1 more source