Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

Glaucoma Screening and Referral Risk Factors in a High-Risk Population: Follow-up Study of the Manhattan Vision Screening Study (NYC-SIGHT).

Prcis: Community-based eye health screenings that incorporated fundus photography and optometric exams in a high-risk NYC population effectively identified a higher than average number of participants that required an in-office glaucoma evaluation.

Purpose: To report glaucoma screening rates and risk factors associated with referral for in-office glaucoma evaluation in the Manhattan Vision Screening and Follow-up Study (NYC-SIGHT).

Methods: In this 5-year, cluster-randomized clinical trial, eligible individuals aged 40 and older were recruited from affordable housing developments and senior centers.

Optimal Maternal Ventilation During Laparotomy with General Anesthesia in Pregnancy in the Ovine Model.

Background: General anesthesia during pregnancy is not uncommon, for example, for trauma surgery, cerclage, or cesarean delivery. Current recommendations are to maintain maternal partial pressure of carbon dioxide in arterial blood (paCO2) at 30 mm Hg, which is based solely on the average maternal paCO2 in awake pregnant women. However, there is no evidence that this target, compared to other targets, would enable optimal conditions for the fetus during general anesthesia.

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.

Noonan syndrome and related disorders are a group of well-known genetic conditions caused by dysregulation of the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. Because of the overlap of clinical and molecular features, they are now called RASopathies. In this study, we retrospectively analyzed the clinical data of 121 patients with a molecularly confirmed diagnosis of RASopathy, describing frequencies for clinical features in all organ systems as well as molecular data.

End-tidal concentration of sevoflurane for optimal surgical conditions in pregnant sheep: a pragmatic approach to a retrospective observational study.

The aim of this pragmatic approach to retrospective observational study was to identify the end-tidal concentration of sevoflurane which was associated with optimal surgical conditions (i.e., absence of any movement, coughing and straining) in 127 pregnant sheep.

Evaluating the Effects of Fungal Endophytes of Perennial Ryegrass on the Feeding Behaviour and Life History of .

The bird cherry-oat aphid, (L.), is an economically significant pest of pasture grasses, the latter being capable of hosting several fungal endophyte-perennial ryegrass symbiota rich in alkaloids and toxic to vertebrates and invertebrates. Measuring aphid feeding behaviour can provide insights into the effectiveness and mode of action of different fungal endophytes.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Cilia are essential organelles and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis in animals models but remains poorly defined. Notably, all but one subunit of the CPLANE complex have been implicated in human ciliopathy.

Parental or Trio Magnetic Resonance Imaging to Improve Prenatal Counseling in Brain Anomalies.

Objective: To assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis.

Methods: Single-center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing).

Results: Seven women were included.

Management of aortic disease in children with FBN1-related Marfan syndrome.

Marfan syndrome (MFS) is a hereditary connective tissue disorder with an estimated prevalence of 1:5000-1:10 000 individuals. It is a pleiotropic disease characterized by specific ocular, cardiovascular, and skeletal features. The most common cardiovascular complication is aortic root dilatation which untreated can lead to life-threatening aortic root dissection, mainly occurring in adult patients.

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.

Purpose: Valproic acid or valproate is an effective antiepileptic drug; however, embryonic exposure to valproate can result in a teratogenic disorder referred to as fetal valproate syndrome (OMIM #609442). Currently there are no diagnostic biomarkers for the condition. This study aims to define an episignature biomarker for teratogenic antenatal exposure to valproate.

AXIN1 mutations in nonsyndromic craniosynostosis.

Objective: Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic cause of most nonsyndromic cases remains unknown.

Methods: The authors analyzed exome or RNA sequencing data from 876 children with nonsyndromic CS, including 291 case-parent trios and 585 additional probands.

Universal Pattern in Quantum Gravity at Infinite Distance.

Quantum gravitational effects become significant at a cutoff that can be much lower than the Planck scale whenever there is a large number of light fields. This is expected to occur at any perturbative limit of an effective field theory coupled to gravity, or equivalently, at infinite distance in the field space of the UV completion. In this note, we present a universal pattern that links the asymptotic variation in field space of the quantum gravity cutoff Λ_{sp} and the characteristic mass of the lightest tower of states m: (∇[over →]m/m)·(∇[over →]Λ_{sp}/Λ_{sp})=[1/(d-2)], with d the spacetime dimension.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.

Purpose: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures, hypogonadism, and mild dysmorphic features. We investigated the phenotype of 18 participants with HAFOUS and performed DNA methylation (DNAm) analysis, aiming to generate a diagnostic biomarker.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Coffin-Siris syndrome (CSS) is a rare multisystemic autosomal dominant disorder. Since 2012, alterations in genes of the SWI/SNF complex were identified as the molecular basis of CSS, studying largely pediatric cohorts. Therefore, there is a lack of information on the phenotype in adulthood, particularly on the clinical outcome in adulthood and associated risks.

Long-term pulmonary and neurodevelopmental impairment in a fetal growth restriction rabbit model.

Fetal growth restriction (FGR) remains one of the main obstetrical problems worldwide, with consequences beyond perinatal life. Animal models with developmental and structural similarities to the human are essential to understand FGR long-term consequences and design novel therapeutic strategies aimed at preventing or ameliorating them. Herein, we described the long-term consequences of FGR in pulmonary function, structure, and gene expression, and characterized neurodevelopmental sequelae up to preadolescence in a rabbit model.

The Effects of Prenatal Pravastatin Treatment in the Rabbit Fetal Growth Restriction Model.

Fetal growth restriction (FGR) remains without an effective prenatal treatment. Evidence from murine FGR models suggests a beneficial effect of prenatal pravastatin. Since the rabbit hemodichorial placenta more closely resembles the human condition, we investigated the effects of prenatal maternal pravastatin administration in the rabbit FGR model.

Manhattan Vision Screening and Follow-Up Study (NYC-SIGHT): Subanalysis of Referral to Ophthalmology.

Purpose: The Manhattan Vision Screening and Follow-up Study aims to provide access to eye care for underserved populations, detect native rates of ocular pathology, and refer participants with eye disease to ophthalmology. This subanalysis describes the reasons for referral to ophthalmology and identifies risk factors associated with being referred.

Methods: Enrolled participants were aged ≥40 years, living independently in public housing developments and able to provide consent for eye health screenings.

Functional Insight into and Refinement of the Genomic Boundaries of the -Neurodevelopmental Disorder Episignature.

(Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. acts as a transcriptional repressor protein that is involved in the regulation of histone methyltransferase complexes.

Duration of fetoscopic spina bifida repair does not affect the central nervous system in fetal lambs.

Background: Prenatal spina bifida aperta repair improves neurologic outcomes yet comes with a significant risk of prematurity and uterine scar-related complications. To reduce such complications, different fetoscopic techniques, for example, with varying numbers of ports, are being explored. This has an effect on the duration of the procedure, potentially affecting central nervous system development.