American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Enlarging Inflammatory Granulation Tissue After Endoscopic Submucosal Dissection at the Esophageal Inlet During Intensive Stricture Prophylaxis: A Case Report. [PDF]
DEN OpenTsurita C +8 more
europepmc +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 +2 more
wiley +1 more source
A Rare Case of Chicken-Bone-Induced Esophageal Perforation Leading to Cervical Abscess and Esophagocutaneous Fistula. [PDF]
CureusTeskey G +3 more
europepmc +1 more source
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 +1 more
wiley +1 more source
Clinical tips to optimize liquid nitrogen spray cryotherapy in esophageal malignancy. [PDF]
Dis EsophagusSpataro J, Fuchs M, Zfass A.
europepmc +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Staphylococcus species are frequently isolated from the sinonasal niche of chronic rhinosinusitis (CRS) patients. While Staphylococcus aureus is often associated with recalcitrant CRS, Staphylococcus epidermidis and Staphylococcus lugdunensis are largely deemed commensal.
Sintayehu Ambachew +8 more
wiley +1 more source
Computed Tomography Findings of Migrating Grass Awn Leading to Esophageal Perforation and Carotid Artery Erosion in a Dog. [PDF]
Vet Radiol UltrasoundFreitag FTV +4 more
europepmc +1 more source
Wireless blood pressure sensor implantation in sheep: A detailed technique
Animal Models and Experimental Medicine, EarlyView.Twelve adult sheep underwent wireless blood pressure sensor implantation. The procedure lasted an average of 36 min, with mean systolic and diastolic blood pressures of 93 ± 6 and 65 ± 5 mmHg, respectively. This rapid, minimally invasive protocol is a powerful platform for cardiovascular device development.
David Santer +10 more
wiley +1 more source
Do we underestimate capsule endoscopy in the upper gastrointestinal tract? [PDF]
, 2005 Göke, B., Schafer, C.
core +2 more sources