Search results for "neonatal"

Gestācijas svara pieauguma ietekme uz dzemdībām un jaundzimušo

2018

KOPSAVILKUMS Virsraksts: Gestācijas svara pieauguma ietekme uz dzemdībām un jaundzimušo Mērķis: Grūtniecība var būt vissvarīgākais fizioloģiskais process dzīves ciklā. Pareiza barošana grūtniecības un pēcdzemdību periodā ir svarīga gan jaundzimušo, gan mātes veselībai. Šī pētījuma mērķis ir analizēt saistību starp grūsnības ķermeņa masas pieauguma rādītājiem dažādās vecuma grupās un novērtēt neonatāla rezultāta ietekmi uz abiem bērniem. Materiāli un metodes: materiāls tika savākts no 2017. gada oktobra līdz 2017. gada decembrim Rīgas Dzemdību nams. Mēs iekļāvām 306 sievietes ar normālu jebkura vecuma un grūtniecības ķermeņa svaru, piemēram, priekšlaicīgu dzemdību laiku, termiņu un pēcnāves …

A Comparative Analysis of Copy Number Variation of the Sheep and Goat Genomes

2010

Recent studies have shown that copy number variants (CNVs) are important sources of variability of mammalian genomes. We applied a cross species array comparative genome hybridization (aCGH) experiment using as reference the cattle genome to investigate, for the first time, variability in the sheep and goat genomes derived from copy number variation and identified 431 and 358 CNVs, respectively. A comparison of these results to those obtained in other mammals for similar experiments is reported. The identified CNVs could be important in determining phenotypic and production differences between and within breeds. Further studies will be carried out to evaluate the identified CNVs from both f…

Obstetric-Neonatal Care during Birth and Postpartum in Symptomatic and Asymptomatic Women Infected with SARS-CoV-2: A Retrospective Multicenter Study

2022

Este artículo se encuentra disponible en la siguiente URL: https://www.mdpi.com/1660-4601/19/9/5482 Este artículo de investigación pertenece a la colección "COVID-19 Research". En este artículo de investigación también participan: Laura Andreu-Pejó, Cristina Martínez-Porcar, Carmen Rodríguez Gonzálvez, Patricia Torrent-Ramos, Nieves Asensio-Tomás, Yolanda Herraiz-Soler, Ramon Escuriet y Desirée Mena-Tudela. This study analyses the obstetric–neonatal outcomes of women in labour with symptomatic and asymptomatic COVID-19. A retrospective, multicenter, observational study was carried out between 1 March 2020 and 28 February 2021 in eight public hospitals in the Valencian community (Spain). The…

No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers.

2021

Microsatellite instability (MSI) is caused by defective DNA mismatch repair (MMR), and manifests as accumulation of small insertions and deletions (indels) in short tandem repeats of the genome. Another form of repeat instability, elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), has been suggested to occur in 50% to 60% of colorectal cancer (CRC), of which approximately one quarter are accounted for by MSI. Unlike for MSI, the criteria for defining EMAST is not consensual. EMAST CRCs have been suggested to form a distinct subset of CRCs that has been linked to a higher tumor stage, chronic inflammation, and poor prognosis. EMAST CRCs not exhibiting MSI have b…

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

2005

Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease. Prenatal history included polyhydramnios, reduced fetal movements and fetal hydrops, and Caesarean section was performed at 36 weeks of gestational age because of fetal distress. At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity. They never showed active movements, sucking and swallowing and were respirator-dependent until death. A muscle biopsy reve…

Craniomaxillofacial morphology alterations in children, adolescents and adults with neurofibromatosis 1 : a cone beam computed tomography analysis of…

2017

Background Oral manifestations are common in neurofibromatosis 1 (NF1), and include jaws and teeth alterations. Our aim was to investigate the craniomaxillofacial morphology of Brazilian children, adolescents and adults with NF1 using cone beam computed tomography. Material and Methods This study was conducted with 36 Brazilian individuals with NF1 with ages ranging from 4 to 75. The participants were submitted to anamnesis, extra and intraoral exam and cephalometric analysis using cone beam computed tomography. Height of the NF1 individuals was compared to the length of jaws and skull base. The results of the cephalometric measurements of the NF1 group were compared with a control group pa…

FMRI of the Cerebellum: Rostral Paravermal Activation in Tongue and Lip

1998

We investigated with fMRI the cerebellar representation of articulatory vertical movements of the tongue and orofacial muscles in healthy volunteers and its correspondence to the area known to be affected in cerebellar dysarthria. fMRI stimulation is mainly unilateral in agreement with the frequent occurrence of dysarthria in unilateral infarction.

Usefulness of chest ultrasound in a neonatal infection due to SARS-CoV-2

2021

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

2022

Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including …

Successful control of an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae sequence type 258 in a neonatal inte…

2013

This article reports an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp) sequence type (ST) 258 in a neonatal intensive care unit (NICU) in Palermo, Italy. KPC-Kp ST258 was detected by an active surveillance culture programme. Between 18th September and 14th November 2012, KPC-Kp was isolated from 10 out of 54 neonates admitted in the outbreak period. No cases of infection were recorded. Male sex was associated with colonization, whereas administration of ampicilline-sulbactam plus gentamicin was protective. Infection control interventions interrupted the spread of KPC-Kp without the need to close the NICU to new admissions. (C) 2013 The Healt…