Results 171 to 180 of about 759,603 (318)

Soft, Multi‐Wavelength Photoplethysmography Enables Reliable Neonatal Blood Pressure Monitoring Via Error Stratification

open access: yesAdvanced Science, EarlyView.
A soft hybrid multi‐wavelength PPG wearable acquires neonatal signals. Synchronized PPG and invasive ABP data are segmented into fixed windows. A 1D‐EfficientNet model predicts segment‐level SBP and DBP. Model performance is examined with retrospective subgroup analysis across acquisition conditions.
Wenqi Shi   +12 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Analysis of neonatal hearing screening coverage by State in Brazil. [PDF]

open access: yesBraz J Otorhinolaryngol
Jesus GC, Câmara VA, Castilho AM.
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

Determinants of preterm neonatal mortality in two rural district hospitals of Gatsibo, Rwanda. [PDF]

open access: yesMatern Health Neonatol Perinatol
Uwambajimana E, Ndagijimana A, Kalisa R.
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

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