Results 231 to 240 of about 66,364 (302)

The efficacy and safety of reducing intraocular pressure to single‐digit levels in Normal‐tension glaucoma: A systematic review and meta‐analysis

Acta Ophthalmologica, EarlyView.
Abstract Purpose This systematic review and meta‐analysis aim to evaluate the efficacy and safety of further lowering intraocular pressure (IOP) to single‐digit levels in treated patients with progressive normal‐tension glaucoma (NTG). Methods A literature search was conducted in MEDLINE (via PubMed), Scopus and Web of Science. We selected studies that
Beatriz Araújo‐Azevedo, Renato Ferreira‐da‐Silva, João Barbosa‐Breda   +2 more
wiley   +1 more source

Early Diagnosis and Targeted Therapy in SLC39A8-Congenital Disorder of Glycosylation: A Case Report From Bulgaria. [PDF]

Cureus
Varbanova V, Tacheva G, Paneva T, Krasteva M, Stamatov D, Litvinenko I.   +5 more
europepmc   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

The Emergence of Self‐Awareness in Preterm Infants: Insights From the Rooting Reflex

Acta Paediatrica, EarlyView.
ABSTRACT Aim Touch is the first sense to develop during fetal life. Sensory exploration in preterm infants may underlie early sensory self‐awareness. This study aimed to demonstrate the emergence of sensory self‐awareness in preterm infants by analysing behavioural responses of the rooting reflex.
Alessia Touraton, Fleur Lejeune, Frédérique Berne Audéoud, Thierry Debillon, Marie Chevallier, Edouard Gentaz, Julia Doutau   +6 more
wiley   +1 more source

Suboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation. [PDF]

Cureus
Babiker AI, Alkabbani H, AlMaraghi S, Al Sulaiti N, Abbas O, Al Serhan AAA, Al-Kadasi W, Yousef M, Mohamed K.   +8 more
europepmc   +1 more source

Age Does Not Affect Respiratory Characteristics in Children With Prader‐Willi Syndrome Before and After Growth Hormone Therapy

Acta Paediatrica, EarlyView.
ABSTRACT Aim Children with Prader‐Willi syndrome (PWS) are at increased risk of both central (CSA) and obstructive sleep apnoea (OSA). Studies examining the effects of growth hormone have focused on older children; however, therapy is often initiated before the age of 2 years.
Michelle Ip, Sze Lut Cheng, Okkes R. Patoglu, Georgina Plunkett, Lauren C. Nisbet, Gillian M. Nixon, Margot J. Davey, Rosemary S. C. Horne   +7 more
wiley   +1 more source

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report. [PDF]

Reports (MDPI)
Gragnaniello V, Pozza A, Cazzorla C, Gueraldi D, Di Salvo G, Burlina AB.   +5 more
europepmc   +1 more source

Midwives' Physiological Approach at the Third Stage of Labour: A Scoping Review

Birth, EarlyView.
Midwives play a crucial role in supporting a physiological third stage of labour by balancing trust in the woman's body with safety measures to prevent postpartum haemorrhage. This scoping review identifies key midwifery practices that promote natural placenta and highlights the importance of undisturbed, woman‐centred care.
Elena Tarlazzi, Virginia Berini, Lorenzo Brevi, Rosalba Ferrandino, Mara Tormen, Dila Parma, Rosaria Cappadona, Simona Fumagalli, Antonella Nespoli, Giuliana Simonazzi   +9 more
wiley   +1 more source

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]

Clin Case Rep
Dababseh BH, Ghnimat AS, AbuHamdiya LW, Atatre MH, Batran A, Suboh MW.   +5 more
europepmc   +1 more source

In‐depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis

British Journal of Haematology, EarlyView.
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
Jonathan R. A. de Wilde, Geoffrey Z. L. Kuppens, Maryse E. Boesveld, Annelies J. van Vuren, Wouter W. van Solinge, Esmé Waanders, Eduard J. van Beers, Minke A. E. Rab, Marije Bartels, Richard van Wijk   +9 more
wiley   +1 more source