Advanced Management of Distal Lower Extremity Congenital Constriction Bands for Foot Salvage
Summary:. Constriction ring syndrome is a rare congenital condition characterized by the formation of fibrous amniotic bands, which can result in limb or digit deformation, malformation, or autoamputation.
Catherine H. Bautista, BS +5 more
doaj +1 more source
Syphilitic infection and pathological pregnancy, childbirth and the changes of the placenta
It is now known that one of the main causes of pathology of pregnancy, childbirth and placenta, is infection. The purpose of the study. To reveal the peculiarities of pregnancy and delivery, as well as histological changes of placenta in syphilitic ...
N. V. Matyskina +2 more
doaj +1 more source
Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication. [PDF]
We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Zgheib O +12 more
europepmc +2 more sources
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
Anna Pielesz,1 Janusz Fabia,1 Włodzimierz Biniaś,1 Ryszard Fryczkowski,1 Beata Fryczkowska,1 Andrzej Gawłowski,1 Alicja Machnicka,2 Rafał Bobiński,3 Henk-Maarten Laane,4 Wioletta Waksmańska5 1Faculty of Materials, Civil and Environmental Engineering ...
Pielesz A +9 more
doaj
BackgroundIntra-amniotic infection and/or inflammation (IAI) are important causes of preterm birth and early-onset neonatal sepsis (EONS). A prompt and accurate diagnosis of EONS is critical for improved neonatal outcomes.
Catalin S Buhimschi +10 more
doaj +1 more source
Hemophilia A: An Ideal Disease for Prenatal Therapy
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
The application of artificial intelligence in blind ultrasound sweep diagnostics for prenatal medicine: A systematic literature review. [PDF]
Artificial intelligence enables the interpretation of blind ultrasound sweeps for prenatal diagnostics. Applications include accurate gestational age estimation, amniotic fluid segmentation, fetal presentation classification, and placental localization.
Schott J +6 more
europepmc +2 more sources
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao +13 more
wiley +1 more source
[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report]. [PDF]
Sumai MA +7 more
europepmc +1 more source

