Results 81 to 90 of about 55,941 (207)
HeliyonBackgroundobjectives: To compare the structural anatomy of the anterior segment in pediatric Trisomy 21 (T21) subjects with and without cataracts to age-matched controls. Design: Prospective case-control study.
Dhruv M. Shah +7 more
doaj +1 more source
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome
Clinical Endocrinology, EarlyView.ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle +9 more
wiley +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
Developmental Medicine &Child Neurology, EarlyView.In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
Cutaneous involvement by myeloid leukaemias: challenging cases with important implications
Histopathology, EarlyView.Myeloid leukaemias and precursors involving the skin are often challenging to diagnose with varied and overlapping clinical and histopathologic features. Nonetheless, they are critical for pathologists to recognize and accurately classify. This review discusses the clinical, histopathological and genetic features of myelodysplasia cutis (A) and ...
Alexandra C. Hristov
wiley +1 more source
International Journal of Dental Hygiene, EarlyView.ABSTRACT Objectives This study aimed to investigate the relationship between functional independence, oral hygiene habits and periodontal status in patients with Down syndrome (DS). Methods A cross‐sectional observational study was conducted with 49 patients with Down Syndrome. Sociodemographic data, oral hygiene habits and functional independence were
Joana Albuquerque Bastos de Sousa +6 more
wiley +1 more source
Journal of Advanced Nursing, EarlyView.ABSTRACT Aim To explore how fathers in Singapore experience, interpret, and cope with the emotional and mental health demands of raising an autistic child, and how stigma and support contexts influence coping and help‐seeking. Design Qualitative. Methods Interpretative phenomenological analysis guided this qualitative study.
Brenda Jinyu Ng +4 more
wiley +1 more source
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background People with intellectual disability experience significant gaps in healthcare delivery resulting in poor health outcomes. Appropriately designed healthcare is required to meet the needs of this population and achieve better health outcomes.
Jenny Downs +6 more
wiley +1 more source