Results 121 to 130 of about 212,783 (242)

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

Uterus torsion in Nellore cow : case report [PDF]

open access: yes, 2010
A torção de útero em bovinos é um caso de emergência obstétrica que, na maioria das vezes, leva à morte do feto e da mãe. O tratamento clínico é pouco eficaz e em grande parte dos casos a operação cesariana é indicada.
Borges, José Renato Junqueira   +6 more
core  

Hemophilia A: An Ideal Disease for Prenatal Therapy

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada   +2 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

El útero humano en distintas edades y el carcinoma in situ del cuello uterino

open access: yesRevista de la Facultad de Medicina, 1971
  El área alrededor del orificio del canal cervical es probablemente una de las más interesantes de la Patología Uterina. En el siguiente esbozo, voy a intentar dar un breve resumen de los problemas y del progreso que creemos haber realizado en nuestro ...
Herwig Hamperl
doaj  

Segunda Opinião Formativa: O que significa citólise no resultado do exame de Papanicolau? [PDF]

open access: yes, 2015
Resposta sistematizada, com base em revisão bibliográfica, para pergunta da área de apoio ao diagnóstico sobre citólise no resultado do exame Papanicolau.
Núcleo Telessaúde Estadual do Rio Grande do Sul
core  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Patología, bacteriología y micología de úteros de vacas Holstein adultas no gestantes

open access: yesRevista Mexicana de Ciencias Pecuarias, 1988
Se examinaron 85 tractos reproductores de vacas Holstein adultas no gestantes sacrificadas en el rastro de Cuautltlán, Edo. De México.
Germán Valero Elizondo   +3 more
doaj  

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