Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.

Introduction: Spinal muscular atrophy (SMA), caused by pathogenic variants in the survival motor neuron (SMN) gene, is the most common genetic cause of mortality in children under the age of two. Prior reports of obstetric sonograms performed in pregnancies with severe forms of fetal SMA have discrepant findings that may stem from a failure to account for the SMN2 copy number.

Methods: We present a neonate diagnosed with SMA type 0 postnatally (0SMN1/1SMN2 genotype).

Phenotype-Genotype Discordance and a Case of a Disorder of Sexual Differentiation.

Discordance between the genetic sex and phenotype seen on ultrasound can identify disorders of sexual development (DSD) that previously escaped detection until puberty. We describe a 46, XY disorder of sexual differentiation caused by a rare mutation in the gene (OMIM]184757, (). The mutation ()-c.

Obtaining buy-in for immediate postpartum long-acting reversible contraception programs in Texas hospitals: A qualitative study.

Objective: To understand the specific ways in which champions lead efforts to obtain and sustain buy-in for immediate postpartum long-acting reversible contraception (LARC) programs.

Methods: We conducted a qualitative study with 60 semistructured interviews at 3 teaching hospitals in Texas with physicians, nurses, administrators and other staff who participated in the implementation of immediate postpartum LARC. Physicians self-identified as champions and identified other champion physicians and administrators.

in an immunocompetent patient with metal lingual frenulum piercing.

. are opportunistic unicellular fungi, known to cause oral, vaginal, lung and occasionally systemic infections. Characteristically, they colonize the oral cavity, the mucosal surfaces of the cheek, palate, and tongue.