Results 51 to 60 of about 2,214,382 (367)

Cyclic nucleotide signaling as a drug target in retinitis pigmentosa

open access: yesFEBS Letters, EarlyView.
Disruptions in cGMP and cAMP signaling can contribute to retinal dysfunction and photoreceptor loss in retinitis pigmentosa. This perspective examines the mechanisms and evaluates emerging evidence on targeting these pathways as a potential therapeutic strategy to slow or prevent retinal degeneration.
Katri Vainionpää   +2 more
wiley   +1 more source

Polydactyly 24 in a Female Neonate

open access: yesCase Reports in Obstetrics and Gynecology, 2013
Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies.
Oluseyi O. A. Atanda   +3 more
doaj   +1 more source

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

open access: yes, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind   +2 more
core  

Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal [PDF]

open access: yes, 2008
BACKGROUND: The prevalence of congenital uterine anomalies in women with reproductive failure remains unclear, largely due to methodological bias. The aim of this review is to assess the diagnostic accuracy of different methodologies and estimate the ...
Cocksedge, K.A.   +2 more
core   +1 more source

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

open access: yes, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide   +12 more
core   +2 more sources

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

open access: yesFEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu   +17 more
wiley   +1 more source

Maternal smoking during pregnancy and birth defects in children: a systematic review with meta-analysis [PDF]

open access: yesCadernos de Saúde Pública, 2014
This systematic review aimed to investigate the association between maternal smoking during pregnancy and birth defects in children. We performed an electronic search of observational studies in the databases ovid MEDLINE (1950 to April 2010), LILACS and
Dilvania Nicoletti   +4 more
doaj   +3 more sources

VACTERL association [PDF]

open access: yes, 2010
VACTERL association is a useful acronym for a condition characterised by the sporadic, non-random association of specific birth defects of multiple organ systems.We present one such case which had congenital abnormalities of renal,skeletal and cardiac ...
Rabah, SM, Salati, SA
core   +1 more source

Brainstem auditory evoked responses in an equine patient population: part I--adult horses. [PDF]

open access: yes, 2014
BackgroundBrainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject.Hypothesis/objectivesTo describe BAER findings, common clinical signs, and causes of hearing loss in adult horses ...
Aleman, M   +3 more
core   +1 more source

GDP‐fucose transporter SLC35C1: a potential regulatory role in cytosolic GDP‐fucose and fucosylated glycan synthesis

open access: yesFEBS Open Bio, EarlyView.
The inactivation of SLC35C1 (GDP‐fucose transporter) and enzymes involved in GDP‐fucose biosynthesis was studied. Fucose supplementation increases the level of GDP‐fucose to abnormal, millimolar values in the absence of the TSTA3 protein and SLC35C1 in contrast to the GMDS/SLC35C1 double mutant.
Edyta Skurska, Mariusz Olczak
wiley   +1 more source

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