The exact prevalence of mirror syndrome remains unclear, and the precise clinical features need to be disclosed. We retrospectively reviewed 85 cases of foetal hydrops from a total of 98,484 deliveries. Of these 16 showed mirror syndrome, while 69 did not. The incidence of mirror syndrome among all deliveries was 0.0162%, while that among patients with foetal hydrops was 23.2%. Maternal symptoms of mirror syndrome included anaemia ( = 15), hypertension ( = 7), proteinuria ( = 8), pulmonary oedema ( = 3), cardiac failure ( = 2) and HELLP syndrome ( = 2). Placental thickness, placental weight and amniotic fluid index were significantly different between the groups. In the mirror syndrome group, uric acid, lactate dehydrogenase, creatinine and D-dimer levels were significantly higher ( < .05), whereas haemoglobin, serum albumin levels, haematocrit value and platelet count were significantly lower ( < .05). Elevated uric acid, lactate dehydrogenase and D-dimer levels may be useful as predictors of mirror syndrome.Impact statement As mirror syndrome is uncommon and under-diagnosed, its exact incidence is not yet clear, and most publications are case reports or reviews of case reports. The incidence of mirror syndrome among all deliveries was 0.0162%, while that among patients with foetal hydrops was 23.2%. Pregnant women who develop mirror syndrome may show severe complications of pregnancy. Attention should be paid to the further progress of the condition. Placental thickness, placental weight and amniotic fluid index were significantly different between those with mirror syndrome and those without. In the mirror syndrome group, the uric acid, lactate dehydrogenase, creatinine and D-dimer levels were significantly higher ( < .05), whereas haemoglobin level, haematocrit value, platelet count and serum albumin level were significantly lower ( < .05). Mirror syndrome is not rare among patients with foetal hydrops. Elevated uric acid, lactate dehydrogenase and D-dimer levels may be useful as predictors of mirror syndrome.
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http://dx.doi.org/10.1080/01443615.2020.1718621 | DOI Listing |
PLoS One
December 2024
Institute of Cell Biology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Setting up the correct diagnosis of interstitial cystitis/bladder pain syndrome (IC/BPS), a chronic inflammatory disease of the bladder, is a challenge, as there are neither diagnostic criteria nor reliable and non-invasive disease biomarkers available. The aim of the present study was to simultaneously determine matched serum- and urine-derived biomarkers of IC/BPS, which would provide additional insights into disease mechanisms and set the basis for further biomarker validation. Our study included 12 female patients with IC/BPS and 12 healthy controls.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Laboratory of Ontogenetics, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Background: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. The syndrome is characterized by phenotypic polymorphism and reduced penetrance.
Methods: Patients were investigated by performing a cytogenetic analysis of GTG-banded metaphases, aCGH with the SurePrint G3 Human CGH Microarray 8×60K, qPCR, FISH, and WES.
Am J Physiol Renal Physiol
December 2024
Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, Mexico City, 14080 Mexico.
The field of the with no lysine kinases (WNKs) regulation of the thiazide-sensitive NaCl cotransporter (NCC) began at the start of the century with the discovery that mutations in two members of the family, WNK1 and WNK4, resulted in a condition known as Familiar Hyperkalemic Hypertension (FHHt). Since FHHt is the mirror image of Gitelman's syndrome that is caused by inactivating mutations of the SLC12A3 gene encoding NCC, it was expected that WNKs modulated NCC activity and that the increased function of the cotransporter is the pathophysiological mechanism of FFHt. This turned out to be the case.
View Article and Find Full Text PDFNAR Mol Med
October 2024
Department of Biology, Tufts University, 200 Boston Ave., Medford, MA 02155, USA.
H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure to discovering its existence and role . H-DNA interacts with cellular machinery in unique ways, stalling DNA and RNA polymerases and causing genome instability.
View Article and Find Full Text PDFPlast Reconstr Surg
December 2024
Division of Plastic and Reconstructive Surgery, Department of Surgery, Spencer Fox Eccles School of Medicine at the University of Utah and Intermountain Primary Children's Hospital, Salt Lake City, UT, USA.
Background: Simple syndactyly is a common congenital upper extremity difference. Traditional reconstructive approaches utilize skin grafts; however, recent studies suggest skin graftless techniques may improve outcomes. We hypothesized that patients who underwent reconstruction with a skin graftless dorsal metacarpal island VY advancement flap would have fewer postoperative complications compared to those released with a dorsal rectangular flap with skin grafts.
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