Results 111 to 120 of about 8,037 (213)

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1‐Related Noonan Syndrome

Clinical Genetics, EarlyView.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Hammersmith Infant Neurological Examination global scores for predicting neurodevelopmental outcomes after 2 years of age: A systematic review and meta‐analysis

Developmental Medicine &Child Neurology, EarlyView.
Population: n = 21studies, 7299 infants Assessment: Hammersmith Infant Neurological Examination (HINE) Global Scores at 3 months (Corrected age), 6 months, 9 months, and 12 months. Crucial Finding: A HINE score <58 at 3 months predicts cerebral palsy (Sensitivity: 79.6%, Specificity: 88.7%).
Ting‐Ju Kuo, Hung‐Chou Chen, Yuan‐Hung Wang, Sung‐Hui Tseng   +3 more
wiley   +1 more source

Importance of Hypercortisolism in BP Control, Cardiovascular Risk and in Patients With Difficult‐to‐Control Hypertension: An Overview for Primary Care Physicians

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Hypertension remains one of the most prevalent and consequential modifiable cardiovascular risk factors worldwide, affecting approximately 1.28 billion adults globally and nearly half of the United States population. Despite the availability of effective therapies, optimal blood pressure control is achieved in fewer than one in four ...
Matthew A. Cavender
wiley   +1 more source

Socioeconomic and Linguistic Factors in Paediatric Type 1 Diabetes: Exploring Glycemic Outcomes, Technology Use, and Residual Beta‐Cell Function in Migrant‐Background Populations

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To investigate associations between migrant status, socioeconomic factors (SES), and residual beta‐cell function and glycemic outcomes in paediatric type 1 diabetes. Methods Retrospective study of 208 children (median [IQR] age 11 [8–14] years; 119 Italian, 89 from migrant‐background families) with glucometric (HbA1c, TIR, TITR, TAR, CV),
Silvia Savastio, Andrea E. Scaramuzza, Erica Pozzi, Valeria Castorani, Eleonora Chiarle, Aurora Craici, Valentina Todescato, Claudio Cavalli, Ivana Rabbone   +8 more
wiley   +1 more source

UltRaSoUnd‐guided evaLuAtion of metabolic health in a cohort of midlife women with HIV: The URSULA study

HIV Medicine, EarlyView.
Abstract Objectives We aimed to determine the prevalence of metabolic disorders, liver steatosis and metabolic dysfunction‐associated steatotic liver disease (MASLD) in a cohort of middle‐aged women with HIV (WoWH) and to explore associations between liver steatosis, visceral fat depots and carotid atherosclerosis.
Mariacristina Poliseno, Davide Capruzzi, Antonio Cianciaruso, Nicola Colavito, Felicia Dalitto, Vincenzo Giliberti, Vittoria Lobalsamo, Giuliana Metrangolo, Marica Noviello, Alessandra Vigna, Maurizio Zarcone, Francesco Di Gennaro, Vincenzo Ostilio Palmieri, Annalisa Saracino   +13 more
wiley   +1 more source

Swiss Practice Recommendations for Chronic Prurigo Including Prurigo Nodularis

International Journal of Dermatology, EarlyView.
Chronic prurigo, including prurigo nodularis, is a chronic, often treatment‐refractory condition characterized by persistent pruritus and chronic scratch lesions. Advances in the understanding of its underlying pathophysiology have enabled the development of novel targeted therapies; however, management remains challenging due to the expanding range of
Simon M. Mueller, Helmut Beltraminelli, Wolf‐Henning Boehncke, Maximilian Böhm, Antonio Cozzio, Peter Häusermann, Ahmad Jalili, Antonios G. A. Kolios, Claudia Lang, Eva Loos, Christoph Schlapbach, Curdin Conrad   +11 more
wiley   +1 more source

Refining Residual Ischemic Stroke Risk in Anticoagulated Atrial Fibrillation Using Index Outpatient LA Diameter: The CHA2DS2‐VALa Score

Journal of Cardiovascular Electrophysiology, EarlyView.
In anticoagulated atrial fibrillation, residual ischemic stroke risk persists despite guideline‐directed therapy. In this single‐center cohort, an enlarged index outpatient left atrial diameter independently predicted stroke and improved risk stratification when added to CHA2DS2‐VA (CHA2DS2‐VALa), supporting a simple, clinically implementable ...
Sefa Erdi Ömür, Emin Koyun, Gülşen Genç Tapar, Kayıhan Karaman, Metin Karayakali, Ataç Çelik, Uğur Kulu, Yasin Taşkin   +7 more
wiley   +1 more source

European S2k guidelines for hidradenitis suppurativa/acne inversa Part 1. Epidemiology, diagnosis and clinical assessment

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Updated S2k hidradenitis suppurativa (HS) guidelines provide expert consensus on diagnosis, assessment and comorbidities. Expanded substantially since the 2015 version, they reflect rapid growth in HS literature and aim to improve generalist‐level patient care through evidence‐informed, consensus‐based guidance.
G. B. E. Jemec, B. Villumsen, K. R. van Straalen, H. H. van der Zee, S. Valiukevičienė, T. Tzellos, J. C. Szepietowski, A. Szegedi, D. M. L. Saunte, M. Romanelli, H. Raynal, F. Prignano, E. P. Prens, M. Podda, A. Nassif, A. Molina‐Leyva, Ł. Matusiak, A. V. Marzano, B. M. McGrath, A. I. Liakou, B. Kirby, L. Kemény, E. Just, D. Ioannidis, J. R. Ingram, R. E. Hunger, B. Horváth, P. Guillem, Ø. Grimstad, E. J. Giamarellos‐Bourboulis, M. Dolenc‐Voljč, V. Del Marmol, Z. Bukvić Mokos, V. Bettoli, F. Benhadou, F. G. Bechara, C. C. Zouboulis   +36 more
wiley   +1 more source

Body size of male Atlantic salmon (Salmo salar L.) at introduction of a 5‐week LD12:12 winter signal influences their decision to mature early or smoltify

Journal of Fish Biology, EarlyView.
Abstract Sexual maturation of male Atlantic salmon post‐smolts (‘jacking’) is undesired in aquaculture and seems to occur due to the intensification in modern facilities. Maturation depends on internal and external factors (temperature, photoperiod, feed availability, energy levels, body size, genetic background) that act on the brain‐pituitary‐gonad ...
Enrique Pino‐Martinez, Kristine F. Staveland, Mitchell S. Fleming, Pablo Balseiro, Cindy Pedrosa, Sigurd O. Handeland   +5 more
wiley   +1 more source

Intramuscular pathways of maladaptation in overtraining syndrome

The Journal of Physiology, EarlyView.
Abstract figure legend The transition from adaptive overreaching to maladaptive overtraining and mechanisms through which excessive training load can lead to performance decline. Four interconnected pathophysiological domains are highlighted: neural fatigue, involving both central and peripheral components such as altered sensory feedback and reflex ...
Emily Shorter, Oscar Horwath, Sabrina Tzivia Barsky, Ferdinand von Walden, Johanna T. Lanner   +4 more
wiley   +1 more source