0000000000077737

AUTHOR

Maria Angela La Rosa

showing 2 related works from this author

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

2022

Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia an…

dysmorphismsComparative Genomic Hybridization12q21 deletiongenetic counselingcopy number variants (CNVs)DNA Copy Number Variationscongenital anomaliesarray-CGH; 12q21 deletion; copy number variants (CNVs); variation intolerant genes; loss of function; developmental delay/intellectual disability (DD/ID); congenital anomalies; dysmorphisms; genetic counseling; patient management12q21 deletion array-CGH congenital anomalies copy number variants (CNVs) developmental delay/intellectual disability (DD/ID) dysmorphisms genetic counseling loss of function patient management variation intolerant genesdevelopmental delay/intellectual disability (DD/ID)variation intolerant genesloss of functionSettore MED/03 - Genetica MedicaChromosome Structuresarray-CGHIntellectual DisabilityGeneticsHumansChromosome Deletionpatient managementGenetics (clinical)Genes
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High mobility group box 1 and markers of oxidative stress in human cord blood.

2019

Background Parturition induces considerable oxidative stress and many inflammatory mediators, such as high mobility group box 1 (HMGB1), are involved from the beginning of the pregnancy to birth. The aim of the present study was to evaluate serum cord blood concentration of diacron-reactive oxygen metabolites (d-ROM), biological antioxidant potential (BAP), and HMGB1 to investigate the perinatal oxidative status of neonates and correlation with mode of delivery, as well as the influence of labor. Methods The subjects consisted of 214 neonates delivered at University Hospital "G. Martino", Messina, in a 6 months period. Venous blood samples were collected from the umbilical cord after cord s…

CordPhysiology030204 cardiovascular system & hematologyHMGB1medicine.disease_causeUmbilical cordUmbilical veinAntioxidants03 medical and health sciences0302 clinical medicinePregnancy030225 pediatricsMedicineHumansHMGB1 ProteinPregnancyLabor Obstetricbiologybusiness.industryInfant NewbornCord blood high mobility group box 1 newborn oxidative stress pregnancy.cord blood high mobility group box 1 newborn oxidative stress pregnancyVenous bloodmedicine.diseaseDelivery ObstetricFetal BloodOxidative Stressmedicine.anatomical_structureItalyCord bloodPediatrics Perinatology and Child Healthbiology.proteinFemalebusinessReactive Oxygen SpeciesOxidative stressBiomarkers
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