Results 61 to 70 of about 616,498 (259)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Fetal Cerebral Blood Flow (Dys)autoregulation

Diagnostics
Background: As an extremely sensitive organ, particularly during in utero development, the brain has intrinsic systems to reduce the risk of cerebral damage in cases of insult, such as energy deprivation, due to a mechanism of positive balance in ...
Cristiana Moreira, Luís Guedes-Martins
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

The Effects of Two Different Breastfeeding Workshops on Improving Knowledge, Attitude, and Practice of Participants: a Comparative Study

Acta Medica Iranica, 2015
Health professionals play crucial roles on the self-confidence of nursing mothers and their knowledge of breastfeeding. The aim of this study was a comparison of two different breastfeeding workshops on participants’ knowledge, attitude, practice (KAP ...
Fariba Seighali, Zahra Farahani, Mamak Shariat   +2 more
doaj  

Vitamin D Levels and Its Influence on Maternal Blood Glucose, Blood Pressure, and Fetal Weight: A Cross-Sectional Study

Indonesian Journal of Obstetrics and Gynecology
Objectives: Vitamin D is needed for many physiological functions. Vitamin D deficiency is a global problem, including vitamin D deficiency in pregnancy.
Hanif Reza, Yulice Soraya, Fadhli Rizal Makarim, Rizki Alfarizi   +3 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Development of a new staining protocol for the Kleihauer–Betke test to facilitate the reading of difficult cases

BMC Pregnancy and Childbirth
Background The Kleihauer–Betke (KB) test allows the detection of fetal red blood cells (containing fetal hemoglobin, HbF) in the maternal blood to identify and quantify potential fetal-maternal hemorrhages.
Adrian Serban, Yannick Tholance, Carmen Aanei, Lydia Campos, Cristina Iobagiu   +4 more
doaj   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Predictors of Cord Blood Leptin Level in Pregnancies Complicated With Preeclampsia, Fetal Growth Restriction and in Normal Pregnancies

Gynecology Obstetrics & Reproductive Medicine, 2007
OBJECTIVE: To investigate possible predictors of cord blood leptin level in pregnancies complicated with fetal growth restriction, preeclampsia and in normal pregnancies. STUDY DESIGN: Thirty-two pregnant women with intrauterine growth restriction (IUGR),
Nilgün Öztürk Doğan, Serdar Yalvaç, Eray Çalışkan, Asuman Erten, İsmail Dölen, Ali Haberal   +5 more
doaj