Results 41 to 50 of about 9,985 (212)
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
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
Case Reports in Clinical PracticeScimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC).
Maziar Karamnejad +5 more
doaj +1 more source
Laparoscopic removal of mullerian duct remnants in boys [PDF]
, 2004 : Purpose: Mullerian duct remnants (MDRs) are present in a male pseudohermaphroditic form characterized by failure of the mullerian duct to regress due to insufficient production or peripheral action of mullerian inhibiting substance.
Aquino, A. +6 more
core +1 more source
Townes-Brocks syndrome with overlapping features of hemifacial microsomia
Journal of Orofacial Sciences, 2013 Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, limb deformity, imperforate anus, and renal malformations.
Yadavalli Guruprasad +1 more
doaj +1 more source
Clinical Genetics, EarlyView.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
Medico-legal evaluation of the gynaecological consultation in cases of annulment presenting to the Ecclesiastical Tribunal of the Roman Curia in Malta [PDF]
, 2013 The Ecclesiastical Tribune of the Roman Curia in Malta appoints gynaecologists as medical experts to certain cases seeking annulment. These cases often essentially revolve around the confirmation or exclusion of virginity but may involve requests for ...
Buttigieg, Gabrielle +1 more
core
Causes and assessment of faecal incontinence [PDF]
, 1999 Faecal incontinence remains a taboo subject and patients frequently conceal their symptoms, because of fear and embarrassment. Sensitive and appropriate assessment will encourage people to seek advice and treatment if required. This article discusses the
Chelvanayagam, Sonya
core +1 more source