Results 151 to 160 of about 47,561 (284)

Examining the association between placental malperfusion assessed by histopathological examination and child and adolescent neurodevelopment: a systematic review

Journal of Child Psychology and Psychiatry, EarlyView.
Background Placental malperfusion, categorised into maternal vascular malperfusion (MVM) and foetal vascular malperfusion (FVM), is a main placental pathology known to affect placental functioning and offspring outcomes. The aim of this review is to evaluate the association between exposure to placental malperfusion and offspring neurodevelopment from ...
Noha Ibrahim, Sydni A. Weissgold, Lucy Brink, Ibtihal Mahgoub, Ben Carter, Vaheshta Sethna, Hein Odendaal   +6 more
wiley   +1 more source

Novel variant in <i>OTOG</i> gene in consanguineous family with sensorineural hearing loss. [PDF]

BMJ Case Rep
An Y, Chan D, Wallerstein R.
europepmc   +1 more source

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, EarlyView.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source

Syndromic congenital hypoacusis associated with premature birth and a variant of the SPEN gene: A case report and literature review. [PDF]

Exp Ther Med
Neagu AC, Budișteanu M, Domuța ME, Gheorghe DC, Mocanu AI, Pavel DM, Neacșa R, Mocanu H.   +7 more
europepmc   +1 more source

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes

Journal of Diabetes Investigation, EarlyView.
We report a case of SHORT syndrome caused by a novel PIK3R1 mutation. The diagnosis of SHORT syndrome was made based on typical clinical features suggestive of the syndrome. ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia.
Kumiko Tajima, Yushi Hirota, Tomofumi Takayoshi, Wataru Ogawa   +3 more
wiley   +1 more source

Granulomatosis with polyangiitis presenting as isolated ear involvement: a case series and literature review. [PDF]

Acta Otorhinolaryngol Ital
Zorzi S, Testa G, Tomasoni M, Taboni S, Nassif N, Gregorini GA, Sorrentino T, Piazza C, Redaelli de Zinis LO.   +8 more
europepmc   +1 more source

X-LINKED CONGENITAL ADRENAL HYPOPLASIA, GONADOTROPIN DECICIENCY AND HIGH FREQUENCIES SENSORINEURAL HEARING LOSS [PDF]

, 1993
R Balducci, Giorgio Conti, Anna Maria Pasquino, Vincenzo Toscano, A. Mangiantini, Giovanna Municchi, Alberto Burlina, B Boscherini   +7 more
openalex   +1 more source

Cognitive and Behavioural Associations of Visual and Hearing Impairments Across the Lifespan in People With Down Syndrome, a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Hearing and visual impairments are common in individuals with Down syndrome (DS), yet it remains unclear whether sensory impairments are associated with cognitive and behavioural functioning such as language, memory and socialisation. This literature review examines those associations.
Nicolo J. Betoni, Cynthia M. Okamoto, Ira T. Lott, Christy L. Hom   +3 more
wiley   +1 more source

Risk factors and Occurrence of Small vessel disease in Acute sensorineural hearing Loss In the Elderly: protocol for a multicentre cross-sectional study. [PDF]

BMJ Open
Oussoren FK, van Leeuwen RB, Schermer TR, Hensen EF, Lammers MJW, Poulsen LMN, Kardux JJ, Colijn C, Bruintjes TD.   +8 more
europepmc   +1 more source

Provider‐Led Interventions to Reduce Congenital Cytomegalovirus

Journal of Midwifery &Women's Health, EarlyView.
Introduction Cytomegalovirus (CMV) infection immediately before or during pregnancy can infect a fetus transplacentally, causing congenital CMV (cCMV). cCMV can cause miscarriage, stillbirth, growth restriction, neurodevelopmental delay, hearing, and vision impairment.
Erin Trisko, Kayla Gosnell, Taneesha Douglas, Katrina Wu   +3 more
wiley   +1 more source