Results 61 to 70 of about 8,267 (188)

Digoxina. A droga de escolha para o tratamento in utero da taquicardia paroxística supraventricular.

open access: yesActa Médica Portuguesa, 1997
Fetal tachyarrhythmia may constitute a risk for the fetus, therefore early treatment is indicate for all cases of tachydysrhythmia, with or without hydrops, in order to prevent irreversible hydrops.
I S Silva   +4 more
doaj   +1 more source

Advancing fetal autopsy in cases of maceration: Underwater dissection technique and its forensic relevance

open access: yesJournal of Forensic Sciences, EarlyView.
Abstract Fetal autopsy remains essential for determining the cause of intrauterine death and for supporting clinical, genetic, and forensic evaluations. However, in cases of advanced maceration, autolysis severely compromises tissue integrity, often preventing adequate identification of anatomical structures and limiting the diagnostic and medico‐legal
Francesca Buffelli   +4 more
wiley   +1 more source

In Vitro Fertilization is Essential Healthcare for Patients With Rheumatic Disease

open access: yesACR Open Rheumatology, Volume 8, Issue 7, July 2026.
Infertility presents a profound physical, emotional, and financial burden, particularly for rheumatology patients who often face substantial barriers to family building. The 2024 Alabama Supreme Court ruling in LePage v. Center for Reproductive Medicine equating embryo destruction with wrongful death introduced new legal uncertainties, sparking ...
Amanda Moyer   +4 more
wiley   +1 more source

Hidrops fetal no inmune por anemia diseritropoyética congénita

open access: yesRevista Chilena de Obstetricia y Ginecología, 2011
La anemia diseritropoyética congénita se engloba dentro de un grupo raro y heterogéneo de trastornos eritrocitarios caracterizados por eritropoyesis ineficaz, anemia megaloblástica, hemosiderosis secundaria e hidrops fetal. Presentamos el caso de un feto
Laura Blasco G   +4 more
doaj  

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

Changing epidemiology of parvovirus B19 in the Netherlands since 1990, including its re-emergence after the COVID-19 pandemic

open access: yesScientific Reports
Parvovirus B19V (B19V) infection during pregnancy can be complicated by potentially life-threatening fetal hydrops, which can be managed by intrauterine transfusion (IUT).
Anne Russcher   +7 more
doaj   +1 more source

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1‐Related Noonan Syndrome (p.Ser257Leu): A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This case describes a female infant with RAF1‐related Noonan syndrome who developed severe hypertrophic obstructive cardiomyopathy, pulmonary hypertension, and cardiorespiratory failure that responded to trametinib treatment but ultimately progressed to death following dose tapering and discontinuation of therapy. To the best of our knowledge,
C. Noah Nilsson   +8 more
wiley   +1 more source

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies

open access: yesHemaSphere, Volume 10, Issue 6, June 2026.
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
Mariane de Montalembert   +19 more
wiley   +1 more source

Kaposiform hemangioendothelioma: Diagnosis and treatment

open access: yesPediatric Investigation, Volume 10, Issue 3, Page 269-280, June 2026.
Vascular endothelial growth factor‐C (VEGF‐C)/vascular endothelial growth factor receptor‐3 (VEGFR‐3) and angiopoietin‐2 (Ang‐2)/tyrosine kinase with immunoglobulin‐like and EGF‐like domain 2 (TIE2) signaling pathways play an important role in lymphangiogenesis.
Yi Tian   +5 more
wiley   +1 more source

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