Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry.

Background: Heat shock protein family B (small) member 6 (HSPB6) mediates cardioprotective effects against stress-induced injury. In humans two gene variants of HSPB6 have been identified with a prevalence of 1% in patients with dilated cardiomyopathy (DCM). Peripartum cardiomyopathy (PPCM) is a potentially life-threatening heart disease of unknown etiology in previously healthy women of whom 16-20% of PPCM carry gene variants associated with cardiomyopathy.

First evidence of (Testudinata) from the bonebeds (Norian, Late Triassic) of Frick, Canton Aargau, Switzerland.

Unlabelled: represents the best-known stem turtle from the Late Triassic, with gross anatomical and internal descriptions of the shell, postcranial bones and skull based on several well-preserved specimens from Central European fossil locations. We here report on the first specimen of from the Late Triassic (Klettgau Formation) Frickberg near the town of Frick, Canton Aargau, Switzerland. Similar to other Late Triassic '-bearing bonebeds', is considered to be a rare faunal element in the Swiss locality of Frick as well.

Agitated Psychiatric Patient.

Audience: This scenario was developed to educate emergency medicine residents about the diagnosis and management of the agitated psychiatric patient.

Introduction: The prevalence of agitation among patients in the emergency department is increasing, with an estimated 1.7 million events occurring annually in the United States.

Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and -5a-Substituted Derivatives of 4--Isofagomine.

Glycosidase inhibitors have shown great potential as pharmacological chaperones for lysosomal storage diseases. In light of this, a series of new cyclopentanoid β-galactosidase inhibitors were prepared and their inhibitory and pharmacological chaperoning activities determined and compared with those of lipophilic analogs of the potent β-d-galactosidase inhibitor 4--isofagomine. Structure-activity relationships were investigated by X-ray crystallography as well as by alterations in the cyclopentane moiety such as deoxygenation and replacement by fluorine of a "strategic" hydroxyl group.

Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.

The PTEN hamartoma tumor syndrome (PHTS) is caused by heterozygous germline variants in PTEN. Here, we report two unrelated patients with juvenile polyposis, macrocephaly, intellectual disability, and hyperpigmented skin macules. Both patients were clinically suspected for the Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PHTS subentity.