Ethanol-Induced Face-Brain Dysmorphology Patterns Are Correlative and Exposure-Stage Dependent

Prenatal ethanol exposure is the leading preventable cause of congenital mental disability. Whereas a diagnosis of fetal alcohol syndrome (FAS) requires identification of a specific pattern of craniofacial dysmorphology, most individuals with behavioral and neurological sequelae of heavy prenatal ethanol exposure do not exhibit these defining facial characteristics. Here, a novel integration of MRI and dense surface modeling-based shape analysis was applied to characterize concurrent face-brain phenotypes in C57Bl/6J fetuses exposed to ethanol on gestational day (GD)7 or GD8.5. The facial phenotype resulting from ethanol exposure depended upon stage of insult and was predictive of unique patterns of corresponding brain abnormalities. Ethanol exposure on GD7 produced a constellation of dysmorphic facial features characteristic of human FAS, including severe midfacial hypoplasia, shortening of the palpebral fissures, an elongated upper lip, and deficient philtrum. In contrast, ethanol exposure on GD8.5 caused mild midfacial hypoplasia and palpebral fissure shortening, a shortened upper lip, and a preserved philtrum. These distinct, stage-specific facial phenotypes were associated with unique volumetric and shape abnormalities of the septal region, pituitary, and olfactory bulbs. By demonstrating that early prenatal ethanol exposure can cause more than one temporally-specific pattern of defects, these findings illustrate the need for an expansion of current diagnostic criteria to better capture the full range of facial and brain dysmorphology in fetal alcohol spectrum disorders

Variations between women and men in risk factors, treatments, cardiovascular disease incidence, and death in 27 high-income, middle-income, and low-income countries (PURE): A prospective cohort study

Some studies, mainly from high-income countries (HICs), report that women receive less care (investigations and treatments) for cardiovascular disease than do men and might have a higher risk of death. However, very few studies systematically report risk factors, use of primary or secondary prevention medications, incidence of cardiovascular disease, or death in populations drawn from the community. Given that most cardiovascular disease occurs in low-income and middle-income countries (LMICs), there is a need for comprehensive information comparing treatments and outcomes between women and men in HICs, middle-income countries, and low-income countries from community-based population studies. Methods: In the Prospective Urban Rural Epidemiological study (PURE), individuals aged 35–70 years from urban and rural communities in 27 countries were considered for inclusion

Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline

Epileptic Nystagmus In A Patient With Nonconvulsive Status Epilepticus

Epileptic nystagmus (EN) is a rare form of rhythmic eye oscillations Occurring during seizure activity. Not only convulsive states, but also nonconvulsive status may represent with EN and this phenomenon may be the only motor manifestation of seizure activity. Epileptic activation of a cortical saccade region may be distinguished from activation of a cortical put-suit region clinically as activation of pursuit regions results in nystagmus slow phases that bring the eyes across the midline. Horizontal EN results most commonly from seizure activity involving the occipital cortex. In this report, horizontal EN in a patient with nonconvulsive status epilepticus (NCSE) is described with clinical, radiological and electrophysiological findings that occur probably due to posterior leukoencephalopathy syndrome. (C) 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved.WoSScopu

The Radiology Digital Dashboard: Effects on Report Turnaround Time

As radiology departments transition to near-complete digital information management, work flows and their supporting informatics infrastructure are becoming increasingly complex. Digital dashboards can integrate separate computerized information systems and summarize key work flow metrics in real time to facilitate informed decision making. A PACS-integrated digital dashboard function designed to alert radiologists to their unsigned report queue status, coupled with an actionable link to the report signing application, resulted in a 24% reduction in the time between transcription and report finalization. The dashboard was well received by radiologists who reported high usage for signing reports. Further research is needed to identify and evaluate other potentially useful work flow metrics for inclusion in a radiology clinical dashboard

Use of secondary prevention drugs for cardiovascular disease in the community in high-income, middle-income, and low-income countries (the PURE Study): a prospective epidemiological survey

Background: Although most cardiovascular disease occurs in low-income and middle-income countries, little is known about the use of effective secondary prevention medications in these communities. We aimed to assess use of proven effective secondary preventive drugs (antiplatelet drugs, beta blockers, angiotensin-converting-enzyme [ACE] inhibitors or angiotensin-receptor blockers [ARBs], and statins) in individuals with a history of coronary heart disease or stroke. Methods: In the Prospective Urban Rural Epidemiological (PURE) study, we recruited individuals aged 35-70 years from rural and urban communities in countries at various stages of economic development. We assessed rates of previous cardiovascular disease (coronary heart disease or stroke) and use of proven effective secondary preventive drugs and blood-pressure-lowering drugs with standardised questionnaires, which were completed by telephone interviews, household visits, or on Patient\u27s presentation to clinics. We report estimates of drug use at national, community, and individual levels. Findings: We enrolled 153 996 adults from 628 urban and rural communities in countries with incomes classified as high (three countries), upper-middle (seven), lower-middle (three), or low (four) between January, 2003, and December, 2009. 5650 participants had a self-reported coronary heart disease event (median 5.0 years previously [IQR 2.0-10.0]) and 2292 had stroke (4.0 years previously [2.0-8.0]). Overall, few individuals with cardiovascular disease took antiplatelet drugs (25.3%), beta blockers (17.4%), ACE inhibitors or ARBs (19.5%), or statins (14.6%). Use was highest in high-income countries (antiplatelet drugs 62.0%, beta blockers 40.0%, ACE inhibitors or ARBs 49.8%, and statins 66.5%), lowest in low-income countries (8.8%, 9.7%, 5.2%, and 3.3%, respectively), and decreased in line with reduction of country economic status (p(trend)\u3c0.0001 for every drug type). Fewest Patients received no drugs in high-income countries (11.2%), compared with 45.1% in upper middle-income countries, 69.3% in lower middle-income countries, and 80.2% in low-income countries. Drug use was higher in urban than rural areas (antiplatelet drugs 28.7% urban vs 21.3% rural, beta blockers 23.5% vs 15.6%, ACE inhibitors or ARBs 22.8% vs 15.5%, and statins 19.9% vs 11.6%, all p\u3c0.0001), with greatest variation in poorest countries (p(interaction)\u3c0.0001 for urban vs rural differences by country economic status). Country-level factors (eg, economic status) affected rates of drug use more than did individual-level factors (eg, age, sex, education, smoking status, body-mass index, and hypertension and diabetes statuses).Interpretation Because use of secondary prevention medications is low worldwide-especially in low-income countries and rural areas-systematic approaches are needed to improve the long-term use of basic, inexpensive, and effective drugs