X-linked pyruvate dehydrogenase complex deficiency due to a novel PDHA1 variant associated with structural brain abnormalities in a fetus

We report a case of pyruvate dehydrogenase E1 alpha subunit deficiency associated with a novel hemizygous PDHA1 variant presenting prenatally as multiple structural brain abnormalities in a male fetus. A healthy Finnish couple was initially referred to the Fetomaternal Medical Center because of suspected fetal choroid plexus cyst at 11 + 2 weeks of pregnancy. At 20 + 0 weeks, multiple abnormalities were observed with ultrasound including narrow thorax, slightly enlarged heart, hypoplastic cerebellum, absent cerebellar vermis and ventriculomegaly. Autopsy and genetic analyses were performed after the termination of pregnancy. The findings of macroscopic examination included cleft palate, abnormally overlapping position of fingers and toes and dysmorphic facial features. Neuropathological examination confirmed the absence of corpus callosum, cerebellar hypoplasia and ventriculomegaly. Nodular neuronal heterotopia was also observed. Trio exome sequencing revealed a novel hemizygous de novo variant c.1144C>T p.(Gln382*) in the PDHA1 gene, classified as likely pathogenic. We suggest that inherited metabolic disorders should be kept in mind as differential diagnoses in fetuses with structural brain abnormalities.     

Stereotypical rapid source level regulation in the harbour porpoise biosonar

Some odontocetes and bats vary both click intensity and receiver sensitivity during echolocation, depending on target range. It is not known how this so-called automatic gain control is regulated by the animal. The source level of consecutive echolocation clicks from a harbour porpoise was measured with a hydrophone array while the animal detected an aluminium cylinder at 2, 4 or 8?m distance in a go/no-go paradigm. On-axis clicks had source levels of 145–174?dB re 1?μPa peak-to-peak. During target-present trials the click trains reached comparable source levels independent of the range to the target after three clicks. After an additional click, the source level was reduced for the 2 and 4?m trials until it equalled the one-way transmission loss. During target-absent trials, the source level remained high throughout the entire click train. Given typical values of harbour porpoise inter-click intervals, the source level reduction commenced within a few 100?ms from the first click in the click train. This may indicate a sub-cortically regulated source level regulation in the harbour porpoise.     

Light, sediment, temperature, and the early life-history of the habitat-forming alga Cystoseira barbata

Recruitment is essential for the maintenance of populations, but far more is typically known about the more easily-observed adult stages than their smaller, often microscopic early life-history counterparts. This discrepancy can be particularly problematic for populations of foundation species that create biogenic habitat for a multitude of other taxa, but are themselves prime candidates for exploitation, fragmentation, and loss, and therefore become the focus of restoration efforts partly or fully dependent on recruitment. The purpose of this study was to improve ecological understanding for early life-history stages of the habitat-forming marine alga Cystoseira barbata (Stackhouse) C. Agardh (Fucales: Sargassaceae), member of a genus that has experienced considerable fragmentation and population decline on European coasts. Using experimental manipulations of water temperature, light intensity, and sediment accumulation, we observed that sediment virtually precluded recruitment of C. barbata, and greatly impacted the survival of recently settled germlings (up to ~83% mortality). Stronger intensities of light facilitated the growth of germlings, including the capacity for ~50% of them to outgrow detrimental sediment and survive. Temperature (10 vs. 16°C) had no effect on early recruitment, survival, or growth. This information helps to identify likely causes and locations of recruitment failure, and by extension, the conditions needed (either naturally or through human intervention) to facilitate recruitment and possible habitat restoration. Ultimately, this knowledge can increase our capacity to predict population persistence and the likely success of restoration efforts.