Results 81 to 90 of about 45,967 (259)

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

Tunable Regional Targeting of Self‐Assembling Peptide Nanomaterials in Acute Myocardial Infarction

open access: yesAdvanced NanoBiomed Research, EarlyView.
In a rat model of acute myocardial infarction, intravascular delivery of peptide nanofibers with a collagen‐targeting peptide bound to the infarct vasculature while globular peptide nanoparticles penetrated into the infarct area. This study demonstrated that size, shape, and surface chemistry of nanomaterials control the delivery location within the ...
Alexander Chen   +14 more
wiley   +1 more source

Dr. Hans Kohn and the political takeover of the Berlin Medical Society by the National Socialist regime in 1933

open access: yesThe Anatomical Record, EarlyView.
Abstract To solidify their power over society, totalitarian regimes will usually eliminate any dissent, any perceived threats early on. These threats include not only political enemies but also educated and independent segments of society, such as professional associations.
Michael Hortsch
wiley   +1 more source

Does salinity make a difference—Kidney anatomy of Saimaa (Pusa saimensis) and Baltic ringed seals (Pusa hispida botnica)

open access: yesThe Anatomical Record, EarlyView.
Abstract As habitat salinity markedly differs between the endangered, freshwater‐dwelling Saimaa ringed seal (Pusa saimensis Nordquist, 1899) and the brackish water‐inhabiting Baltic ringed seal (Pusa hispida botnica Gmelin, 1788), we investigated whether this difference has resulted in morphological changes to their kidneys.
Heini Nihtilä, Juha Laakkonen
wiley   +1 more source

Long‐Term Outcomes of Reduced‐Intensity Conditioning Hematopoietic Stem Cell Transplantation for Patients With Systemic Sclerosis With Impaired Cardiac Function

open access: yesArthritis &Rheumatology, EarlyView.
Objective High‐intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced systemic sclerosis (SSc). The role of reduced‐intensity conditioning (RIC) before AHSCT in this population remains unclear.
Yonatan Lean   +4 more
wiley   +1 more source

Immune Complexes Shape the Pathogenicity of Autoantibodies in Systemic Autoimmune Diseases: Insights From an FcγRIIIA‐Reporter Assay

open access: yesArthritis &Rheumatology, EarlyView.
Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki   +8 more
wiley   +1 more source

Higher complement C4 gene copy number constitutes a shared genetic risk factor for giant cell arteritis and IgA vasculitis

open access: yesArthritis &Rheumatology, Accepted Article.
Objective Low copy number (CN) of complement C4 isoforms and high CN of retroviral HERV‐K elements are known risk factors for many immune‐mediated inflammatory diseases (IMIDs), often showing sex‐biased effects. Here, we assessed whether CN variation within the C4 gene contributes to giant cell arteritis (GCA) and IgA vasculitis (IgAV), two complex ...
Laura Martínez‐Gutiérrez   +296 more
wiley   +1 more source

Asymptomatic bilateral ureteropelvic junction obstruction due to supernumerary renal arteries.

open access: yesSaudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2008
A supernumerary renal artery is a common arterial variation, which warrants considerations in a variety of urologic and retroperitoneal operations. Supernumerary renal arteries can be associated with other uro-vascular variations and anomalies such as duplicated renal veins and ureters, aberrant origin of the gonadal arteries, persistence of fetal ...
Shoja Mohammadali   +5 more
openaire   +2 more sources

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay   +5 more
wiley   +1 more source

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