Results 181 to 190 of about 131,481 (240)

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra‐rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurrent acute ear and sinus ...
Christopher K. Zalewski, H. Jeffrey Kim, Carmen C. Brewer, Sophia Martinez, Caroline Rieger, Elena Cho, David H. McDermott, Philip M. Murphy   +7 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

Prenatal Diagnosis, EarlyView.
ABSTRACT To review the classification, epidemiology, etiology, prenatal diagnostic approach, and neurodevelopmental outcomes of fetal intracranial hemorrhage (ICH), and to provide clinicians with a practical, fetal‐specific framework for investigating and counseling families facing this diagnosis.
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source

Wyburn‐Mason Syndrome: A Case Report

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Wen Wang, Chen‐Lu Pei, Jian‐Yang Gong   +2 more
wiley   +1 more source

Antimicrobial Residues in a Key Cerrado River: Distribution, Persistence, and Effects on Zebrafish Embryo‐Larval Development

Environmental Toxicology, EarlyView.
ABSTRACT The current study aimed to quantify the antimicrobials amoxicillin (AMX), cefazolin (CFZ), chloramphenicol (CHL), metronidazole (MTZ), and sulfamethoxazole (SX) in effluents and surface water of an important Cerrado river, calculate their half‐lives, and analyze their ecotoxicity following single and combined exposures.
Náthala Maria Simão, Igor Romeiro dos Santos, Jerônimo Raimundo de Oliveira Neto, Flávio Olimpio Sanches Neto, Felipe Cirqueira Dias, Jéssyca Moreira Morais, Lorranny Pereira de Assis Valadares, Naiara Raica Lopes de Oliveira, Mirelle Garcia Silva Bailão, Luiz Carlos da Cunha, Valter Henrique Carvalho‐Silva, Thiago Lopes Rocha, Elisa Flávia Luiz Cardoso Bailão   +12 more
wiley   +1 more source

Evaluating Thiram‐Induced Embryotoxicity Using Integrated In Silico, In Vitro, and Transcriptomic Approaches

Environmental Toxicology, EarlyView.
ABSTRACT Long‐term exposure to low‐dose food contact materials (FCMs) has raised concerns regarding developmental toxicity. In the present study, we prioritized FCMs with potential developmental toxicity using a weight‐of‐evidence computational model, which predicted 127 chemicals to be of high concern.
Chia‐Chi Ho, Chun‐Wei Tung, B. Linju Yen, Chen‐Yi Weng, Ju‐Hsin Hsu, Ming‐Hsien Tsai, Salim Arrokhman, Pinpin Lin   +7 more
wiley   +1 more source

Polymicrogyria and Cardiac Arrhythmia in a Neonate With Biallelic Stop‐Gain Variant in TMEM161B: Expanding the Phenotype

Prenatal Diagnosis, EarlyView.
Miriam Bertrand, Ute Grasshoff, Cornelia Wiechers, Dennis Witt, Vivien Richter, Andreas Dufke, Karl Oliver Kagan, Tobias B. Haack   +7 more
wiley   +1 more source

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Intentional Cranial Deformation

Neurosurgery, 1995
Of the forms of human self-mutilation that have been recorded, few have been so widespread and long lasting as intentional cranial deformation. The earliest known record of the practice is from Iraq and dates back to 45,000 BC. The custom, which was practiced in many areas of the world, continued well into this century. Although tatooing, ear piercing,
Peter C. Gerszten, Enrique Gerszten
openaire   +3 more sources

Obelionic cranial deformation in the Puebloan Southwest

American Journal of Physical Anthropology, 2010
AbstractAs a form of cranial deformation, obelionic flattening is rare. Originally named and described by Stewart (J Wash Acad Sci 29 (1939) 460–465), based on a small sample from Florida, it has been little noted since. Previously [Nelson and Madimenos, Paper presented at the Paleopathology Association annual meeting (2007)], we reported the discovery
Greg C, Nelson, Felicia C, Madimenos
openaire   +2 more sources