Results 61 to 70 of about 30,088 (234)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Adult brain abscess associated with patent foramen ovale: a case report

Journal of Medical Case Reports, 2007
Brain abscess results from local or metastatic septic spread to the brain. The primary infectious site is often undetected, more commonly so when it is distant.
Stathopoulos Georgios T, Mandila Christina G, Koukoulitsios Georgios V, Katsarelis Nikodimos G, Pedonomos Michel, Karabinis Andreas   +5 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 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

The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives

The Anatomical Record, EarlyView.
Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini, Nicola Montemurro, Ferdinando Paternostro, Immacolata Belviso, Massimo Galli, Petra Martini, Licia Uccelli, Jacopo Moggi‐Cecchi, Gregorio Oxilia   +8 more
wiley   +1 more source

Community building through play: Development and design of a board game for review in an undergraduate anatomy course

Anatomical Sciences Education, EarlyView.
Abstract Engaging students and fostering interactions can be a challenge in large enrollment, foundational‐level, undergraduate anatomy classes. Despite the active learning environment of the anatomy laboratory, students often struggle to find study partners or even speak to fellow learners in a large classroom.
Kristin Stover, Vanessa Kruk, Jenna Kuczek   +2 more
wiley   +1 more source

A Case of Venous Tissue Dissection During Transcatheter MitraClip Surgery

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT The MitraClip system has been widely used to treat mitral regurgitation. The complications associated with MitraClip surgery typically include clip detachment and mitral valve injury. However, cases of venous tissue dissection during surgery are relatively rare.
Shumin Ouyang, Yongqiao Zhou, Yongzhao Yao, Guangzhu Liang, Minqi Liao, Suxia Guo   +5 more
wiley   +1 more source

Intracranial electroencephalographic approaches in the intensive care unit: Safety, feasibility, and coverage

Epilepsia, EarlyView.
Abstract Objective Nonconvulsive epileptic activity is common after acute brain injury and contributes to neuronal injury and poor outcomes. Although intracranial electroencephalography (iEEG) improves detection compared with surface EEG (suEEG), it currently relies on focal recordings of epileptic dynamics.
Steven Smeijers, Mariella Segreti, Anaïs Van Hoylandt, Jeroen Gijs, Johannes van Loon, Lauranne Scheldeman, Bart Depreitere, Tom Theys   +7 more
wiley   +1 more source