Generation of Internal Waves by Eddies Impinging on the Western Boundary of the North Atlantic

This is the final version. Available from the American Meteorological Society via the DOI in this recordDespite the major role played by mesoscale eddies in redistributing the energy of the large-scale circulation, our understanding of their dissipation is still incomplete. This study investigates the generation of internal waves by decaying eddies in the North Atlantic western boundary. The eddy presence and decay are measured from the altimetric surface relative vorticity associated with an array of full-depth current meters extending ~100 km offshore at 26.5°N. In addition, internal waves are analyzed over a topographic rise from 2-yr high-frequency measurements of an acoustic Doppler current profiler (ADCP), which is located 13 km offshore in 600-m deep water. Despite an apparent polarity independence of the eddy decay observed from altimetric data, the flow in the deepest 100 m is enhanced for anticyclones (25.2 cm s−1) compared with cyclones (−4.7 cm s−1). Accordingly, the internal wave field is sensitive to this polarity-dependent deep velocity. This is apparent from the eddy-modulated enhanced dissipation rate, which is obtained from a finescale parameterization and exceeds 10−9 W kg−1 for near-bottom flows greater than 8 cm s−1. The present study underlines the importance of oceanic western boundaries for removing the energy of low-mode westward-propagating eddies to higher-mode internal waves.The RAPID-WATCH MOC monitoring project is funded by the U.K. Natural Environment Research Council, the U.S. National Science Foundation, and the U.S. National Oceanic and Atmospheric Administration. L. Clément was supported by NERC Grant NE/I528626/1. The participation of K. L. Sheen and J. A. Brearley in this study was supported by NERC Grants NE/E007058/1 and NE/E005667/1. A.C.N.G. acknowledges the support of a Philip Leverhulme Prize

Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study

OBJECTIVE: Hyperinsulinaemic hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in children. The molecular basis includes defects in pathways that regulate insulin release. Syndromic conditions like Beckwith-Wiedemann (BWS), Kabuki (KS) and Turner (TS) are known to be associated with a higher risk for HH. This systematic review of children with HH referred to a tertiary centre aims at estimating the frequency of a syndromic/multisystem condition to help address stratification of genetic analysis in infants with HH. METHODS: We performed a retrospective study of 69 patients with syndromic features and hypoglycaemia in a specialist centre from 2004 to 2018. RESULTS: Biochemical investigations confirmed HH in all the cases and several genetic diagnoses were established. Responsiveness to medications and the final outcome following medical treatment or surgery were studied. CONCLUSIONS: This study highlights the association of HH with a wide spectrum of syndromic diagnoses and that children with features suggestive of HH-associated syndromes should be monitored for hypoglycaemia. If hypoglycaemia is documented, they should also be screened for possible HH. Our data indicate that most syndromic forms of HH are diazoxide-responsive and that HH resolves over time; however a significant percentage continues to require medications years after the onset of the disease. Early diagnosis of hyperinsulinism and initiation of treatment is important for preventing hypoglycaemic brain injury and intellectual disability

Favorable patient acceptance of ambulatory blood pressure monitoring in a primary care setting in the United States: a cross-sectional survey

BACKGROUND: The use of ambulatory blood pressure monitoring (ABPM) in the diagnosis and management of hypertension in primary care settings in the United States is increasing. Insufficient information is available describing patients' experiences and acceptance of this technology in the United States, where medical insurance coverage of the procedure is often limited. The objective of this study was to describe patient satisfaction with ABPM performed in a primary care office in the United States, using modern ABPM technology. METHODS: Cross-sectional survey performed on consecutive patients referred to the ABPM service of the Family Care Center, University of Iowa Hospitals and Clinics, Iowa City, Iowa from January 2001 to July 2003. Measures of patient satisfaction and acceptance with the device, comfort, and overall session were assessed via a 9-question, Likert-scale response survey. RESULTS: Since its inception two and a half years ago, 245 total ABPM sessions have been conducted in 235 unique patients. Of the 235 eligible respondents, 177 returned completed surveys, yielding a 75% response rate. Three-fourths (75%) of patients believed that undergoing the test was worthwhile considering the time and monetary cost involved, while most (90%) reported they thought the information provided by the test would be helpful to their physician in making treatment decisions. Patients reporting that their physician had clearly explained the benefit of undergoing the testing were more likely to report that they thought the results of the test would be more helpful in making treatment decisions. Few patients (20%) found that wearing the monitor was uncomfortable. CONCLUSIONS: When clinically indicated, clinicians should not hesitate to order ABPM testing for fear of subjecting patients to an uncomfortable test, or an uncovered insurance benefit. When ordering ABPM, they should be sure to educate the patient about the potential benefits of undergoing the testing. Most patients believe the test will provide useful information in making treatment decisions, despite probable lack of insurance coverage, and appear willing to experience some discomfort for the overall gain of the results obtained from undergoing the session

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease

We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare homozygous variants in TKFC. TKFC encodes a bifunctional enzyme involved in fructose metabolism through its glyceraldehyde kinase activity and in the generation of riboflavin cyclic 4′,5′-phosphate (cyclic FMN) through an FMN lyase domain. The TKFC homozygous variants reported here are located within the FMN lyase domain. Functional assays in yeast support the deleterious effect of these variants on protein function. Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay, associated with cerebellar hypoplasia in one case. Further complications observed in two affected individuals included liver dysfunction and microcytic anemia, while one had fatal cardiomyopathy with lactic acidosis following a febrile illness. We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract. In line with this, an affected individual had mildly elevated urinary galactitol, which has been linked to cataract development in the galactosemias. Further, in light of a previously reported role of TKFC in regulating innate antiviral immunity through suppression of MDA5, we speculate that deficiency of TKFC leads to impaired innate immunity in response to viral illness, which may explain the fatal illness observed in the most severely affected individual

Mitochondrial phylogeography and demographic history of the Vicuña: implications for conservation

The vicuña (Vicugna vicugna; Miller, 1924) is a conservation success story, having recovered from near extinction in the 1960s to current population levels estimated at 275 000. However, lack of information about its demographic history and genetic diversity has limited both our understanding of its recovery and the development of science-based conservation measures. To examine the evolution and recent demographic history of the vicuña across its current range and to assess its genetic variation and population structure, we sequenced mitochondrial DNA from the control region (CR) for 261 individuals from 29 populations across Peru, Chile and Argentina. Our results suggest that populations currently designated as Vicugna vicugna vicugna and Vicugna vicugna mensalis comprise separate mitochondrial lineages. The current population distribution appears to be the result of a recent demographic expansion associated with the last major glacial event of the Pleistocene in the northern (18 to 22°S) dry Andes 14–12 000 years ago and the establishment of an extremely arid belt known as the 'Dry Diagonal' to 29°S. Within the Dry Diagonal, small populations of V. v. vicugna appear to have survived showing the genetic signature of demographic isolation, whereas to the north V. v. mensalis populations underwent a rapid demographic expansion before recent anthropogenic impacts

Steroid receptor expression in the fish inner ear varies with sex, social status, and reproductive state

<p>Abstract</p> <p>Background</p> <p>Gonadal and stress-related steroid hormones are known to influence auditory function across vertebrates but the cellular and molecular mechanisms responsible for steroid-mediated auditory plasticity at the level of the inner ear remain unknown. The presence of steroid receptors in the ear suggests a direct pathway for hormones to act on the peripheral auditory system, but little is known about which receptors are expressed in the ear or whether their expression levels change with internal physiological state or external social cues. We used qRT-PCR to measure mRNA expression levels of multiple steroid receptor subtypes (estrogen receptors: ERα, ERβa, ERβb; androgen receptors: ARα, ARβ; corticosteroid receptors: GR2, GR1a/b, MR) and aromatase in the main hearing organ of the inner ear (saccule) in the highly social African cichlid fish <it>Astatotilapia burtoni</it>, and tested whether these receptor levels were correlated with circulating steroid concentrations.</p> <p>Results</p> <p>We show that multiple steroid receptor subtypes are expressed within the main hearing organ of a single vertebrate species, and that expression levels differ between the sexes. We also show that steroid receptor subtype-specific changes in mRNA expression are associated with reproductive phase in females and social status in males. Sex-steroid receptor mRNA levels were negatively correlated with circulating estradiol and androgens in both males and females, suggesting possible ligand down-regulation of receptors in the inner ear. In contrast, saccular changes in corticosteroid receptor mRNA levels were not related to serum cortisol levels. Circulating steroid levels and receptor subtype mRNA levels were not as tightly correlated in males as compared to females, suggesting different regulatory mechanisms between sexes.</p> <p>Conclusions</p> <p>This is the most comprehensive study of sex-, social-, and reproductive-related steroid receptor mRNA expression in the peripheral auditory system of any single vertebrate. Our data suggest that changes in steroid receptor mRNA expression in the inner ear could be a regulatory mechanism for physiological state-dependent auditory plasticity across vertebrates.</p