Results 101 to 110 of about 256,859 (299)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

The macroeconomic impacts of a foot-and-mouth disease outbreak: an information paper for Department of the Prime Minister and Cabinet [PDF]

This memorandum provides a scenario analysis of the likely macroeconomic impacts of a limited foot-and-mouth disease (FMD) outbreak in New Zealand. It is worth stressing at the outset that it is not a forecast, nor a ‘central’ scenario, but an exercise ...
Ian Woolford, Melleny Black, Áron Gereben   +2 more
core  

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Bioinformatics based design of thermostable virus-like particles-based vaccine for foot-and-mouth disease serotype A and in-vivo evaluation in guinea pigs

Frontiers in Cellular and Infection Microbiology
BackgroundFoot-and-mouth disease (FMD) is a contagious disease affecting cloven footed animals. Existing vaccines although effective, has limitations of short immunity, needs cold chain maintenance, high biosafety levels facilities for production and ...
Deepak Praveen Raj Selvaraj, Paramasivam Saravanan, Aparna Madhavan, Das Adwitiya, Chandan Tilak, Beeragere Parameshwaraiah Sreenivasa, Shreya Gopinath, Sekar Elackiya, Saravanamuthu Thiyagarajan, Pallab Chaudhuri   +9 more
doaj   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Adults With Intellectual Disability Moving out of the Family Home Using the National Disability Insurance Scheme: Family Members' Planning Experiences

Australian Journal of Social Issues, EarlyView.
ABSTRACT For adults with intellectual disability and their families, future planning and moving out of the family home in Australia will increasingly occur within the context of the National Disability Insurance Scheme (NDIS). As a market‐based, individualised funding system its impact on this transition remains largely unknown. This paper reports on a
I. Belperio, R. Walker, C. Bigby, I. Wiesel, F. Rillotta, C. Hutchinson   +5 more
wiley   +1 more source

A SPATIAL MODEL OF ANIMAL DISEASE CONTROL IN LIVESTOCK: EMPIRICAL ANALYSIS OF FOOT AND MOUTH DISEASE IN THE SOUTHERN CONE [PDF]

This paper presents a multi-market model of animal disease control that extends the current literature by accounting for spatial and inter-temporal relations in both epidemiological and economic variables.
Rich, Karl M., Winter-Nelson, Alex
core   +1 more source

Mechanistic Insights Into Photocatalytic Materials for Toxic Pollutants: Environmental Remediation of Personal Care Products

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Photocatalytic materials have emerged as promising solutions for environmental applications due to their ability to degrade organic pollutants under sunlight or artificial light. In this review, recent progress on the photocatalytic materials used for the degradation of pharmaceutical personal care products (PPCPs) in environmental ...
Urvashi Sen, Gunjan Chauhan, Surbhi Soni, Monika Vats, Anand Kumar, Indra Bahadur   +5 more
wiley   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source