Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative.

As multigene panel testing is becoming routine in clinical care, there are recommendations at national and international level, as to which genes should be analyzed in the context of a hereditary breast and ovarian cancer (HBOC). However, the individual composition of gene panels offered by testing laboratories vary, resulting in a different variant diagnostic rate. Therefore, we performed a retrospective NGS dataset analysis of suspected HBOC patients who had been tested at different German diagnostic laboratories that are part of the NASGE network.

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.

Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene () have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of variants. We identified four loss-of-function heterozygous variants in five children with multiple café au lait macules and one adult with multiple café au lait macules and axillar freckling, by applying gene panel analysis in four families.

The Role of Social Determinants in Diagnosis Timing for Fetal Care Center-Eligible Conditions: A Scoping Review.

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

Background: Epilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic diseases. However, epilepsy can also be the only disease-determining symptom.

Fetal Care Nursing-The Birth of a Specialty.

With the rapid growth of specialized fetal care centers (FCCs) across the United States, a new area of nursing practice has emerged. Fetal care nurses provide care in FCCs to pregnant persons experiencing complex fetal conditions. This article describes the unique practice of fetal care nurses necessitated by the complexity of perinatal care and the provision of maternal-fetal surgery in FCCs.

Antenatal Milk Expression as a Lactation Support Intervention for Parents of Infants With Severe Birth Defects: A Case Series.

Background: A diet high in parent's own milk (parental milk) is a lifesaving intervention for critically ill infants. Lactating parents whose infants are born with birth defects that require surgical repair (surgical infants) shortly after birth often struggle to initiate and maintain a milk supply that meets their infant's nutritional needs. Antenatal milk expression has been identified as a safe, feasible, and potentially effective strategy that promotes parents' direct chest/breastfeeding or milk expression (lactation) confidence and helps parents attain their lactation goals.

Understanding Sociodemographic Disparities in Maternal-Fetal Surgery Study Participation.

Background/purpose: Although maternal-fetal surgery to treat fetal anomalies such as spina bifida continues to grow more common, potential health disparities in the field remain relatively unexamined. To address this gap, we identified maternal-fetal surgery studies with the highest level of evidence and analyzed the reporting of participant sociodemographic characteristics and representation of racial and ethnic groups.

Methods: We conducted a systematic review of the scientific literature using biomedical databases.

Understanding Dimethyl Methylphosphonate Adsorption and Decomposition on Mesoporous CeO.

The increased risk of chemical warfare agent usage around the world has intensified the search for high-surface-area materials that can strongly adsorb and actively decompose chemical warfare agents. Dimethyl methylphosphonate (DMMP) is a widely used simulant molecule in laboratory studies for the investigation of the adsorption and decomposition behavior of sarin (GB) gas. In this paper, we explore how DMMP interacts with the as-synthesized mesoporous CeO.

Contrasting Bonding Extremes in Two [Ge] Complexes: A Wadian Polyhedron ( = 2) versus a Hydrocarbon-like 2c-2e Polygermanide ( = 12).

[Nb(η-CHMe)] reacts with ethylenediamine (en) solutions of KGe in the presence of 18-crown-6 to give [(η-CHMe)NbHGe] () and [(η-CHMe)NbGeNb(η-CHMe)] () as their corresponding [K(18-crown-6)] salts. The crystalline solids are dark brown, air-sensitive, and sparingly soluble or insoluble in most solvents. The [K(18-crown-6)] salts of cluster ions and have been characterized by energy-dispersive X-ray (EDX) analysis, NMR studies, single-crystal X-ray diffraction, and electrospray ionization time-of-flight (ESI-TOF) mass spectrometry studies.

Isotopic and microbotanical insights into Iron Age agricultural reliance in the Central African rainforest.

The emergence of agriculture in Central Africa has previously been associated with the migration of Bantu-speaking populations during an anthropogenic or climate-driven 'opening' of the rainforest. However, such models are based on assumptions of environmental requirements of key crops (e.g.

[Cp*RuPb] and [Cu@Cp*RuPb]: centered and non-centered transition-metal substituted zintl icosahedra.

Cluster anions [Cp*RuPb] (1) and [Cu@Cp*RuPb] (2) represent the first vertex-substituted zintl icosahedra and 1 is the first non-centered zintl icosahedron isolated in the condensed phase. Complexes 1 and 2 are both 12-vertex, 26-electron closo-clusters with C point symmetry and are static on the Pb NMR time scale in solution.

Potential Control of Oxygen Non-Stoichiometry in Cerium Oxide and Phase Transition Away from Equilibrium.

Cerium oxide (ceria, CeO) is a technologically important material for energy conversion applications. Its activities strongly depend on redox states and oxygen vacancy concentration. Understanding the functionality of chemical active species and behavior of oxygen vacancy during operation, especially in high-temperature solid-state electrochemical cells, is the key to advance future material design.

Introduction of a Measurement Setup to Monitor the Pressure Applied During Handheld Ultrasound Elastography.

Shear-wave elastography may produce misleadingly high values if too much pressure is applied during the imaging process. However, in clinical routine there is presently no way to monitor the pressure applied during the measurements. In this work we introduce a novel measurement setup which can directly be attached to an ultrasonic imaging transducer and allows observation of the applied pressure in real time.

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.

Cohen syndrome (CS) is a rare, autosomal recessive disorder characterized by intellectual disability, postnatal microcephaly, facial abnormalities, abnormal truncal fat distribution, myopia, and pigmentary retinopathy. It is often considered an underdiagnosed condition, especially in children with developmental delay and intellectual disability. Here we report on four individuals from a large Jordanian family clinically diagnosed with CS.

Nonpassivated Silicon Anode Surface.

A stable solid electrolyte interphase (SEI) has been proven to be a key enabler to most advanced battery chemistries, where the reactivity between the electrolyte and the anode operating beyond the electrolyte stability limits must be kinetically suppressed by such SEIs. The graphite anode used in state-of-the-art Li-ion batteries presents the most representative SEI example. Because of similar operation potentials between graphite and silicon (Si), a similar passivation mechanism has been thought to apply on the Si anode when using the same carbonate-based electrolytes.

The effect of grain size on the hydration of BaZrYO proton conductor studied by ambient pressure X-ray photoelectron spectroscopy.

Three BaZr0.9Y0.1O3-δ (BZY10) pellets were prepared using different sintering processes, resulting in samples with different grain sizes, from 0.

Novel Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

We report 2 cases of girls with gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers.

Extended depth of focus lens implantation after radial keratotomy.

Purpose: To identify the visual performance of radial keratotomy (RK) patients that have undergone cataract surgery with implantation of an extended depth of focus (EDOF) intraocular lens (IOL).

Design: Retrospective chart review with questionnaire.

Methods: Medical charts of patients with a history of RK that had undergone phacoemulsification with implantation of the Tecnis Symfony IOL (J&J Vision) were reviewed.

Identifying the components of the solid-electrolyte interphase in Li-ion batteries.

The importance of the solid-electrolyte interphase (SEI) for reversible operation of Li-ion batteries has been well established, but the understanding of its chemistry remains incomplete. The current consensus on the identity of the major organic SEI component is that it consists of lithium ethylene di-carbonate (LEDC), which is thought to have high Li-ion conductivity, but low electronic conductivity (to protect the Li/C electrode). Here, we report on the synthesis and structural and spectroscopic characterizations of authentic LEDC and lithium ethylene mono-carbonate (LEMC).

Water (Non-)Interaction with MoO.

Molybdenum(VI) oxide (MoO) is used in a number of technical processes such as gas filtration and heterogeneous catalysis. In these applications, the adsorption and dissociation of water on the surface can influence the chemistry of MoO and thus the course of heterogeneous reactions. We use ambient pressure X-ray photoelectron spectroscopy to study the interaction of water with a stoichiometric MoO surface and a MoO surface that features oxygen defects and hydroxyl groups.

Synthesis and Characterization of the {Si(NHCHCHNH)[Mo(CO)]} Complex Comprising the Si(NHCHCHNH) Octahedron.

Reactions of KSi with the low-valent transition-metal complex Mo(CO)(CH) in ethylenediamine/toluene solutions in the presence of 2,2,2-cryptand yield the {Si(NHCHCHNH)[Mo(CO)]} dianion, which contains an octahedral Si(NHCHCHNH) subunit. The SiN core comprises a rare example of a doubly deprotonated ethylenediame ligand in a coordination complex and is also the first structurally characterized example of a homoleptic Si(N∩N) trischelate. Its structure and spectroscopic properties are described.

The cyclo-Sb ring in the [Sb(RuCp*)] ion.

The [Sb6(RuCp*)2]2- (1) anion represents the first example of a Zintl cluster with a boat-like cyclo-Sb6 subunit and the first ruthenium polyantimonide complex. The anion is dynamic in solution and fragments in the gas phase. Structural parameters and DFT calculations suggest the possibility of Sb[double bond, length as m-dash]Sb double bond character.

Assessing Substitution Effects on Surface Chemistry by in Situ Ambient Pressure X-ray Photoelectron Spectroscopy on Perovskite Thin Films, BaCe ZrYO ( x = 0; 0.2; 0.9).

Performance of proton-solid oxide fuel cells (H-SOFC) is governed by ion transport through solid/gas interfaces. Major breakthroughs are then intrinsically linked to a detailed understanding of how parameters tailoring bulk proton conductivity affect surface chemistry in situ, at an early stage. In this work, we studied proton and oxygen transport at the interface between H-SOFC electrolyte BaCe ZrYO ( x = 0; 0.