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

American 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

American 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, Yves Alembik, Marie‐Paule Roth +2 more
wiley +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin +3 more
wiley +1 more source

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

Advanced 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

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

The 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

The effect of fetal renal artery Doppler ultrasound on neonatal outcomes in fetuses with ureteropelvic junction type obstruction

Objective: Fetal urinary tract dilatation (UTD) is one of the common fetal problems with remarkable difficulties in diagnosis and management in the antenatal and postnatal periods.
Can Caglayan, Ilkin Seda +3 more
core +1 more source

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

Arthritis &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

Arthritis &Rheumatology, EarlyView.
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 +295 more
wiley +1 more source

Renal artery embolism treated by selective intra-arterial infusion of tissue plasminogen activator: report of 2 cases [PDF]

, 1997
組織プラスミノーゲンアクチベータにて選択的腎動脈線溶療法を施行した腎動脈塞栓症2例(74歳女, 66歳女)を報告した.1例は発症後3日目の治療にもかかわらず塞栓が溶解され腎機能が回復したTwo cases of renal artery embolism treated by selective intra-arterial infusion of tissue plasminogen activator (t-PA) are reported.
井上, 貴博 +5 more
core

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source

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