Search results for "TWINS"

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

2020

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presen…

Precise reply and clarifications on behalf of Sicilian Public Health Authorities to the case report published by La Rosa and collegues

2016

The intussusception is one of the most frequent causes of occlusive syndrome in infants and in children.1 The mesenteric lymphadenopathy, wich is very rare post rotavirus vaccination, can cause intussusception,2-5 especially in genetically predisposed individuals.6 There is an association between intussusception and some classes of genotype.7-9 Two infants aged 3 months, vaccinated against rotavirus. After about a week, one of the 2 identical infants presented inconsolable crying, vomiting, loose stools mixed with blood, and was diagnosed with bowel obstruction with intussusception. He was operated in urgency. After a few hours, his brother presented vomiting, and was admitted to our Hospit…

Prematurity and twinning

2012

Aim of the study: Newborns from multiple pregnancies are increasing in number and demonstrate a higher perinatal morbidity and mortality compared to singletons. Prematurity is the main reason for most neonatal diseases in twins, but other variables may play a role and their prenatal evaluation may improve the overall outcome. Main findings: Prematurity is six times more frequent in twins and therefore birth weight is significantly lower compared to singletons. Thus, twins are more exposed to prematurity related diseases (respiratory, cardiovas- cular, infectious, etc.) and to long-term complications (especially neurological disabilities). Results: It is very difficult to estimate the increa…

The Italian longitudinal cohort of newborn twins: A research opportunity

2008

Fetal growth restriction: A growth pattern with fetal, neonatal and long-term consequences

2019

Fetal growth restriction (FGR) or intrauterine growth restriction (IUGR) are the terms used for a fetus which has not attained its full growth potential for gestational age. FGR is a multifactorial syndrome responsible for increased fetal and neonatal morbidity and mortality as well as long term adverse outcomes involving auxological, metabolic, organic and functional domains. Clinicians distinguish early and late onset FGR, in relation to specific fetal anthropometric parameters related to the possible primary etiology and to different patterns of placental and maternal cardiovascular pathologies. Delivery of an early onset FGR or growth impaired newborn with congenital pathology should be…

Mirror imaging of impacted and supernumerary teeth in dizygotic twins: A case report

2015

Background: Mesiodens is the most common type of supernumerary tooth found in the premaxilla. It might be discovered during the clinical examination as a casual finding on a radiograph or as the cause of an unerupted maxillary central incisor. The genetic transmission of supernumerary and impacted teeth is poorly understood. Mirror imaging in twins has been reported frequently in relation to several unilateral dental anomalies including mesiodens. This phenomenon is the appearance of an asymmetrical feature or anomaly occurring on the right side of one twin but on the left side of the other twin. The event of mesiodens mirror imaging in monozygotic twins has been described in literature. Re…

Neurocognitive endophenotypes (endophenocognitypes) from studies of relatives of bipolar disorder subjects: a systematic review.

2008

Abstract Background There is growing interest to research neurocognition as a putative endophenotype for subjects with bipolar disorders (BD). The authors sought to review the available literature focused on relatives of subjects with bipolar disorder (BD-Rels) and identify suitable cognitive candidates to endophenotypes or endophenocognitypes. Method A systematic review was conducted in Medline, EMBASE and PsycINFO databases (1980–July 2007), supplemented with a manual search of reference lists. Results Twenty-three cross-sectional papers of discordant twins (4 studies), genetic high-risk subjects (7), and different BD-Rel groups (12) met the inclusion criteria and evaluated 532 BD-Rels. I…

Circulating miR-21, miR-146a and Fas ligand respond to postmenopausal estrogen-based hormone replacement therapy--a study with monozygotic twin pairs.

2014

Biological aging is associated with physiological deteriorations and its’ remodeling, which are partly due to changes in the hormonal profile. MicroRNAs are known to post-transcriptionally regulate various cellular processes associated with cell senescence; differentiation, replication and apoptosis. Measured from the serum, microRNAs have the potential to serve as noninvasive markers for diagnostics/prognostics and therapeutic targets. We analysed the association of estrogen-based hormone replacement therapy (HRT) with selected microRNAs and inflammation markers from the serum, leukocytes and muscle tissue biopsy samples obtained from 54-62 year-old postmenopausal monozygotic twins (n=11 p…

Muscle Cross-Sectional Area and Structural Bone Strength Share Genetic and Environmental Effects in Older Women

2009

The purpose of this study was to estimate to what extent muscle cross-sectional area of the lower leg (mCSA) and tibial structural strength are influenced by common and trait-specific genetic and environmental factors. pQCT scans were obtained from both members of 102 monozygotic (MZ) and 113 dizygotic (DZ) 63- to 76-yr-old female twin pairs to estimate the mCSA of the lower leg, structural bending strength of the tibial shaft (BSIbend), and compressive strength of the distal tibia (BSIcomp). Quantitative genetic models were used to decompose the phenotypic variances into common and trait-specific additive genetic (A), shared environmental (C), and individual environmental (E) effects. The …

Postmenopausal hormone replacement therapy modifies skeletal muscle composition and function: a study with monozygotic twin pairs

2009

We investigated whether long-term hormone replacement therapy (HRT) is associated with mobility and lower limb muscle performance and composition in postmenopausal women. Fifteen 54- to 62-yr-old monozygotic female twin pairs discordant for HRT were recruited from the Finnish Twin Cohort. Habitual (HWS) and maximal (MWS) walking speeds over 10 m, thigh muscle composition, lower body muscle power assessed as vertical jumping height, and maximal isometric hand grip and knee extension strengths were measured. Intrapair differences (IPD%) with 95% confidence intervals (CI) were calculated. The mean duration of HRT use was 6.9 ± 4.1 yr. MWS was on average 7% (0.9 to 13.1%, P = 0.019) and muscle…