Objective: To validate ultrasound diagnoses of fetal anomalies made in a Fetal Medicine Center in Pernambuco.
Methods: A cross sectional study was performed to validate the diagnosis test, including all high risk pregnant women submitted to obstetrical morphological ultrasound at the 'Instituto de Medicina Integral Professor Fernando Figueira (I.M.I.P.)', from March 2002 to March 2006. Prenatal diagnosis was confirmed after birth. Socio demographic characteristics and pre and postnatal frequencies of fetal anomalies were the variables studied. Agreement between pre and postnatal diagnoses from congenital anomalies were evaluated with the Kappa indicator. Youden's test was applied to validate prenatal ultrasound diagnoses.
Results: Nine hundred and eighty nine patients were eligible. After evaluation of inclusion and exclusion criteria 457 patients were included in study. The average maternal age was 24.8 + 6.5 years. Fetal anomaly diagnoses postnatal were confirmed in 257 (56.2%) pregnant women. Prenatal ultrasound diagnosis of fetal anomalies disclosed 96% of sensibility and 79% of specificity, good agreement (K=0.76) between pre and postnatal diagnoses when compared to postnatal results and good diagnostic validity (Y=0.75).
Conclusion: Prenatal diagnoses of fetal anomalies at a Fetal Medicine center in Pernambuco demonstrate good sensibility, specificity, agreement pre and postnatal and good diagnostic validity.
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http://dx.doi.org/10.1590/s0104-42302009000500016 | DOI Listing |
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Am J Case Rep
December 2024
I Department of Radiology and Diagnostic Imaging, Norbert Barlicki Memorial Teaching Hospital No. 1, Medical University of Łódź, Łódź, Poland.
BACKGROUND Arterioportal fistulas (APFs) are abnormal connections between the arterial and portal venous systems, leading to portal hypertension (PH) and symptoms such as gastrointestinal bleeding, splenomegaly, and hepatic pain. Symptoms typically appear by the age of 2 years in about 75% of cases. CASE REPORT A 7-year-old boy with an asymptomatic APF developed life-threatening complications following a Clostridium difficile infection.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.
Results: The purpose of this study was to explore parental experiences of caring for a child with EB.
BMC Pediatr
December 2024
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Ophthalmology, Rajavithi Hospital and College of Medicine, Rangsit University, Bangkok, Thailand.
Relative anterior microphthalmos (RAM) is a rare ocular condition characterized by disproportionately small anterior segments but normal axial length (corneal diameter < 11 mm and axial length > 20 mm). This study aimed to determine the prevalence of RAM and its association with glaucoma utilizing IOL Master 700 data (Carl Zeiss Meditec, Jena, Germany). A retrospective analysis was conducted of the biometric parameters of 6,407 eyes, and 115 cases of RAM were identified.
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