Results 91 to 100 of about 39,335 (209)

Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions

Brain Pathology, EarlyView.
An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich, David S. Priemer, Charles Harker Rhodes, Daniel P. Perl, Kurenai Tanji, James E. Goldman   +5 more
wiley   +1 more source

Twin Acardiac: Case Reported From Ethiopia

Clinical Case Reports
Acardiac twinning is a rare congenital anomaly in monozygotic twin pregnancies, caused by abnormal placental vascular anastomosis. We present a case of monochorionic twinning: Twin A was a heterogeneous mass with no head or cardiac activity, while Twin B
Ebisa Erena muleta, Girma Geta, Awel Temema Dube, Kasu Hailu Seifu   +3 more
doaj   +1 more source

Survival after aberrant left subclavian artery-esophageal fistula hemorrhage: A case report and technique review

Journal of Vascular Surgery Cases and Innovative Techniques
Subclavian artery-esophageal fistula is a rare but potentially fatal vascular anomaly. Inherent to Downs syndrome, trisomy 21 presents with a variety of rare cardiac and vascular anomalies.
Austin Clements, DO, Kiara Touros, DO, Greg Bearden, MD, Vernon Horst, MD   +3 more
doaj   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Clinical Genetics, EarlyView.
A 79‐year‐old woman with lifelong peripheral edema and an affected sister was found to harbor a novel homozygous THSD1 splice‐site variant. Reduced THSD1 expression in dermal endothelial cells supported the possibility that this variant contributes to chronic hereditary edema.
Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato, Jun Takayama, Yoshiko Suto, Yuji Noguchi, Sosuke Kinomura, Yusuke Ishizuka, Shun Watanabe, Koichi Kikuchi, Rui Makino, Mai Yoshida, Yuji Oe, Tasuku Nagasawa, Koji Okamoto, Takehiro Suzuki, Mariko Miyazaki, Shinya Kawaguchi, Takashi Suzuki, Takaaki Abe, Shigeo Kure, Atsuo Kikuchi, Tetsuhiro Tanaka   +23 more
wiley   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Double Trouble - Radiological Abnormality [PDF]

Al Ameen Journal of Medical Sciences
Double aortic arch (DAA) is a rare congenital anomaly of the aortic arch system, representing the most common vascular ring malformation. Axial and Coronal CT aortogram images of our patient demonstrate a prominent right arch and a smaller left arch ...
Sohail Mohammed Balbatti
doaj  

Fetal brain MRI analysis: Towards clinical translation and impact

Developmental Medicine &Child Neurology, EarlyView.
Emerging AI‐based methods demonstrate the feasibility of automating image acquisition, motion correction and 3D reconstruction, segmentation, biometry, and quality control in fetal brain MRI, signaling a shift towards more quantitative assessment, and enabling precise characterization and assessment of the developing brain.
Aysha Luis, Alena Uus, Lisa Story, Mary Rutherford   +3 more
wiley   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Pathophysiology of developmental and/or epileptic encephalopathy with spike–wave activation in sleep: A diagnostic framework

Developmental Medicine &Child Neurology, EarlyView.
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed, Shivani Sekar, Rameez Naqvi, Manidipa Dutta, Manal Issa, Angeliki Menounou, Deepa Krishnakumar, Thiloka Ratnaike   +7 more
wiley   +1 more source