A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.

Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis.

Surface-Enhanced Raman Spectroscopy Chips Based on Silver Coated Gold Nanostars.

Surface-enhanced Raman scattering (SERS) is becoming widely used as an analytical tool, and the search for stable and highly responsive SERS substrates able to give ultralow detection of pollutants is a current challenge. In this paper we boosted the SERS response of Gold nanostars (GNS) demonstrating that their coating with a layer of silver having a proper thickness produces a 7-fold increase in SERS signals. Glass supported monolayers of these GNS@Ag were then prepared using simple alcoxyliane chemistry, yielding efficient and reproducible SERS chips, which were tested for the detection of molecules representative of different classes of pollutants.

3'UTR Deletion of Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.

() gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), characterized by developmental delay, intellectual disability, poor language, dysmorphic facial features, and microcephaly. Structural brain malformation, such as corpus callosum and cerebellar abnormalities, and heart defects, in particular left ventricular non-compaction (LVNC), represent the most recurrent congenital malformations, recorded both in about 80% of patients, and can be considered the distinctive imaging findings of this disorder.

Case Report: A Novel Homozygous Missense Variant of Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. , , and encode the human fibrillins and mutations in and cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently, mutations of the less characterized fibrillin family member, , have been associated in a single family with Bardet-Biedl syndrome (BBS).

In the Global Epicenter: Social Work Leadership in a New York City Hospital.

The Mount Sinai Hospital in New York City was in the epicenter of the COVID-19 pandemic and had to transform from a tertiary to crisis care hospital and increase its bed capacity by 50 percent to care for COVID-19 patients. The size, scope, complexity and uncertainty of this crisis was unparalleled. This article describes the comprehensive response of the Department of Social Work Services, one of the largest hospital social work departments in the country.