Results 71 to 80 of about 108,597 (268)

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Pneumonia, an Unusual Initial Presentation of Neonatal Herpes Infection

Case Reports in Critical Care, 2019
Neonatal herpes simplex virus (HSV) infection is a life-threatening infection with high morbidity and mortality rates. Neonatal herpes, most commonly due to HSV type 2, is a multi-system disease; however, initial pulmonary presentation is extremely ...
Franck Kouadio, Gil Klinger
doaj   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

CHALLENGES IN NEONATAL HEMATOLOGY

Slovenska pediatrija
Although the aetiology of the most common haematological disorders of the newborn has been known for decades, the question of the most optimal treatment is still a challenge in clinical practice.
Jana Lozar Krivec
doaj   +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

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Assessment of newborn screening in the public health system of a municipality in northern Rio Grande do Sul

Clinical and Biomedical Research, 2018
Introduction: Newborn screening allows the screening of diseases that are still in the asymptomatic period and whose early diagnosis and treatment are associated with reduced infant morbidity and mortality.
Tássia Tonon, Elisa Sisti, Tatiéle Nalin, Ida Vanessa Doederlein Schwartz   +3 more
doaj  

The mechanism of labor in nonhuman primates: A look inside

The Anatomical Record, EarlyView.
Abstract While in humans, the flexed position of the fetus and its rotating course down the birth canal are well documented, in other primates the mechanism of labor is unknown. Despite the lack of comparative data, it is commonly assumed that the human obstetric mechanism is unique, and anthropologists have disputed when and why the transition to the ...
Melissa K. Stoller
wiley   +1 more source

The Role of IgM Anti‐acetylated Protein Antibodies and B Cells in the Origin of Antimodified Protein Autoimmunity in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) is characterized by anti‐modified protein antibodies (AMPAs), including anti‐citrullinated protein antibodies (ACPA), anti‐carbamylated protein antibodies (anti‐CarP), and anti‐acetylated protein antibodies (AAPA). In contrast to other AMPAs, AAPA IgM is found in healthy individuals, raising questions about its role ...
Aegli Athanasiadou, Sanne Kroos, Renee van de Wetering, Rian Schopmeijer, Carin van der Keur, Michael Eikmans, Caroline Meijer, Solbritt Rantapää‐Dahlqvist, René E. M. Toes, Linda M. Slot, Diane van der Woude   +10 more
wiley   +1 more source