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Genetics in Medicine : Official Journal... Nov 2015Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement... (Meta-Analysis)
Meta-Analysis Review
Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement membrane in many tissues. Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities, indicated as "COL4A1 mutation-related disorders." Genetic counseling is challenging because of broad phenotypic variation and reduced penetrance. At the Erasmus University Medical Center, diagnostic DNA analysis of both COL4A1 and COL4A2 in 183 index patients was performed between 2005 and 2013. In total, 21 COL4A1 and 3 COL4A2 mutations were identified, mostly in children with porencephaly or other patterns of parenchymal hemorrhage, with a high de novo mutation rate of 40% (10/24). The observations in 13 novel families harboring either COL4A1 or COL4A2 mutations prompted us to review the clinical spectrum. We observed recognizable phenotypic patterns and propose a screening protocol at diagnosis. Our data underscore the importance of COL4A1 and COL4A2 mutations in cerebrovascular disease, also in sporadic patients. Follow-up data on symptomatic and asymptomatic mutation carriers are needed for prognosis and appropriate surveillance.
Topics: Alleles; Anterior Eye Segment; Brain; Cerebral Hemorrhage; Cohort Studies; Collagen Type IV; Eye Abnormalities; Eye Diseases, Hereditary; Family; Gene Order; Genetic Association Studies; Genetic Loci; Genotype; Humans; Leukomalacia, Periventricular; Magnetic Resonance Imaging; Mutation; Pedigree; Phenotype; Porencephaly
PubMed: 25719457
DOI: 10.1038/gim.2014.210 -
Cureus Jul 2021Premature birth is the most common cause for a stay in the neonatal intensive care unit (NICU) among neonates. Premature birth leads to prematurity, which is associated...
Premature birth is the most common cause for a stay in the neonatal intensive care unit (NICU) among neonates. Premature birth leads to prematurity, which is associated with complications such as respiratory distress syndrome (RDS), hyperbilirubinemia, gastroesophageal reflux (GERD), intraventricular hemorrhage (periventricular leukomalacia), retinopathy of prematurity (ROP), and so on. These secondary complications are of great concern and need to be handled with care to prevent the further deterioration of the quality of life of the baby as he grows. So, the early physiotherapeutic interventional approach comes into light and plays an important role in neonatal care.This case study demonstrates an infant boy of seven months chronological age, who had a preterm birth history with a poor APGAR (Appearance, Pulse, Grimace, Activity, and Respiration) score and NICU stay during the first three months of life. He approached the physiotherapy outpatient department with a complaint of delayed motor milestones like an absence of head holding, rolling, opening of hand, as well as delayed social-emotional development, Ryles tube (RT) in situ, with frequent episodes of GERD, neck rotated to the left side, high irritability, tactile defensiveness of both hands, and difficulty in regulating his sensory systems. Outcome measures used were gross motor function measure (GMFM), sensory profile, and rotating chair test. Early interventional physiotherapy was given including neurodevelopmental techniques (NDT), oromotor stimulation, sensory integration, passive stretching, and myofascial release for six days per week with each session of 45 minutes. The results demonstrated the achievement of motor milestones till sitting independently, reduced episodes of GERD, discontinued RT in situ, improved mobility of neck on both sides, reduced irritability, and started reaching, grasping along with bimanual tasks.
PubMed: 34434678
DOI: 10.7759/cureus.16581 -
Medicina Sep 2023Premature births are an important health indicator for a country. These children have a higher risk of mortality and morbidity. The main brain injuries in preterm... (Review)
Review
Premature births are an important health indicator for a country. These children have a higher risk of mortality and morbidity. The main brain injuries in preterm infants include white matter injuries, intracranial hemorrhages, and cerebellar injuries. These injuries can be detected through brain ultrasound and magnetic resonance imaging (MRI), with MRI being the most sensitive technique. Perinatal brain injuries may have long-term consequences on the neurodevelopment of preterm infants, with an increased risk of cerebral palsy, cognitive, behavioral, sensory, and learning disorders, among others. It is key to implement prevention strategies and early intervention to reduce the negative consequences of brain injuries associated with prematurity. Key words: prematurity, periventricular leukomalacia, intracranial hemorrhage, neurodevelopmental disorders, cerebral palsy.
Topics: Infant, Newborn; Child; Infant; Female; Pregnancy; Humans; Cerebral Palsy; Infant, Premature; Brain; Brain Injuries; Cerebellum
PubMed: 37714118
DOI: No ID Found -
BMJ (Clinical Research Ed.) Jan 2023To investigate whether monitoring of cerebral tissue oxygen saturation using near infrared spectroscopy in addition to routine monitoring combined with defined treatment... (Randomized Controlled Trial)
Randomized Controlled Trial
Cerebral regional tissue Oxygen Saturation to Guide Oxygen Delivery in preterm neonates during immediate transition after birth (COSGOD III): multicentre randomised phase 3 clinical trial.
OBJECTIVE
To investigate whether monitoring of cerebral tissue oxygen saturation using near infrared spectroscopy in addition to routine monitoring combined with defined treatment guidelines during immediate transition and resuscitation increases survival without cerebral injury of premature infants compared with standard care alone.
DESIGN
Multicentre, multinational, randomised controlled phase 3 trial.
SETTING
11 tertiary neonatal intensive care units in six countries in Europe and in Canada.
PARTICIPANTS
1121 pregnant women (<32 weeks' gestation) were screened prenatally. The primary outcome was analysed in 607 of 655 randomised preterm neonates: 304 neonates in the near infrared spectroscopy group and 303 in the control group.
INTERVENTION
Preterm neonates were randomly assigned to either standard care (control group) or standard care plus monitoring of cerebral oxygen saturation with a dedicated treatment guideline (near infrared spectroscopy group) during immediate transition (first 15 minutes after birth) and resuscitation.
MAIN OUTCOME MEASURE
The primary outcome, assessed using all cause mortality and serial cerebral ultrasonography, was a composite of survival without cerebral injury. Cerebral injury was defined as any intraventricular haemorrhage or cystic periventricular leukomalacia, or both, at term equivalent age or before discharge.
RESULTS
Cerebral tissue oxygen saturation was similar in both groups. 252 (82.9%) out of 304 neonates (median gestational age 28.9 (interquartile range 26.9-30.6) weeks) in the near infrared spectroscopy group survived without cerebral injury compared with 238 (78.5%) out of 303 neonates (28.6 (26.6-30.6) weeks) in the control group (relative risk 1.06, 95% confidence interval 0.98 to 1.14). 28 neonates died (near infrared spectroscopy group 12 (4.0%) control group 16 (5.3%): relative risk 0.75 (0.33 to 1.70).
CONCLUSION
Monitoring of cerebral tissue oxygen saturation in combination with dedicated interventions in preterm neonates (<32 weeks' gestation) during immediate transition and resuscitation after birth did not result in substantially higher survival without cerebral injury compared with standard care alone. Survival without cerebral injury increased by 4.3% but was not statistically significant.
TRIAL REGISTRATION
ClinicalTrials.gov NCT03166722.
Topics: Infant, Newborn; Infant; Humans; Female; Pregnancy; Oxygen; Brain; Oxygen Saturation; Infant, Premature; Gestational Age; Brain Injuries
PubMed: 36693654
DOI: 10.1136/bmj-2022-072313 -
Antioxidants (Basel, Switzerland) Oct 2021Preterm babies are highly susceptible to oxidative stress (OS) due to an imbalance between the oxidant and antioxidant systems. The generation of free radicals (FR)... (Review)
Review
Preterm babies are highly susceptible to oxidative stress (OS) due to an imbalance between the oxidant and antioxidant systems. The generation of free radicals (FR) induces oxidative damage to multiple body organs and systems. OS is the main factor responsible for the development of typical premature infant diseases, such as bronchopulmonary dysplasia, retinopathy of prematurity, necrotizing enterocolitis, intraventricular hemorrhage, periventricular leukomalacia, kidney damage, eryptosis, and also respiratory distress syndrome and patent ductus arteriosus. Many biomarkers have been detected to early identify newborns at risk of developing a free radical-mediated disease and to investigate new antioxidant strategies. This review reports the current knowledge on OS in the preterm newborns and the newest findings concerning the use of OS biomarkers as diagnostic tools, as well as in implementing antioxidant therapeutic strategies for the prevention and treatment of these diseases and their sequelae.
PubMed: 34829543
DOI: 10.3390/antiox10111672 -
Medical Journal, Armed Forces India Apr 2021Periventricular leukomalacia (PVL) is a common magnetic resonance imaging (MRI) finding in cases of hypoxic ischemic encephalopathy. PVL, in MRI, is identified by the... (Review)
Review
Periventricular leukomalacia (PVL) is a common magnetic resonance imaging (MRI) finding in cases of hypoxic ischemic encephalopathy. PVL, in MRI, is identified by the increased signal intensity of periventricular white matter on T2-weighted sequences which is more conspicuous in the posterior cortex. It occurs because of perinatal damage to the cerebral cortex. This insult is in the form of hypoxia, metabolic insults, prematurity, seizures, or infection. Periventricular area is most prone to damage owing to its immaturity and vascular supply. PVL is proven to affect vision in children. Depending on the area and cause of affection, PVL is associated with variable ophthalmic manifestations. It is known that visual function is closely linked to the overall neurodevelopment of a child. A multidisciplinary approach is required to promote the growth and development of these children, and in the midst of multiple disabilities, visual function should not be overlooked. A comprehensive knowledge of the ophthalmological presentation in the developing world can aid us in an early and accurate diagnosis and in intervention for better therapeutic recovery and rehabilitation of these children.
PubMed: 33867629
DOI: 10.1016/j.mjafi.2020.05.013 -
JAMA Network Open Apr 2023Interventions to reduce severe brain injury risk are the prime focus in neonatal clinical trials. (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Interventions to reduce severe brain injury risk are the prime focus in neonatal clinical trials.
OBJECTIVE
To evaluate multiple perinatal interventions across clinical settings for reducing the risk of severe intraventricular hemorrhage (sIVH) and cystic periventricular leukomalacia (cPVL) in preterm neonates.
DATA SOURCES
MEDLINE, Embase, CENTRAL (Cochrane Central Register of Controlled Trials), and CINAHL (Cumulative Index to Nursing and Allied Health Literature) databases were searched from inception until September 8, 2022, using prespecified search terms and no language restrictions.
STUDY SELECTION
Randomized clinical trials (RCTs) that evaluated perinatal interventions, chosen a priori, and reported 1 or more outcomes (sIVH, cPVL, and severe brain injury) were included.
DATA EXTRACTION AND SYNTHESIS
Two co-authors independently extracted the data, assessed the quality of the trials, and evaluated the certainty of the evidence using the Cochrane GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) approach. Fixed-effects pairwise meta-analysis was used for data synthesis.
MAIN OUTCOMES AND MEASURES
The 3 prespecified outcomes were sIVH, cPVL, and severe brain injury.
RESULTS
A total of 221 RCTs that assessed 44 perinatal interventions (6 antenatal, 6 delivery room, and 32 neonatal) were included. Meta-analysis showed with moderate certainty that antenatal corticosteroids were associated with small reduction in sIVH risk (risk ratio [RR], 0.54 [95% CI, 0.35-0.82]; absolute risk difference [ARD], -1% [95% CI, -2% to 0%]; number needed to treat [NNT], 80 [95% CI, 48-232]), whereas indomethacin prophylaxis was associated with moderate reduction in sIVH risk (RR, 0.64 [95% CI, 0.52-0.79]; ARD, -5% [95% CI, -8% to -3%]; NNT, 20 [95% CI, 13-39]). Similarly, the meta-analysis showed with low certainty that volume-targeted ventilation was associated with large reduction in risk of sIVH (RR, 0.51 [95% CI, 0.36-0.72]; ARD, -9% [95% CI, -13% to -5%]; NNT, 11 [95% CI, 7-23]). Additionally, early erythropoiesis-stimulating agents (RR, 0.68 [95% CI, 0.57-0.83]; ARD, -3% [95% CI, -4% to -1%]; NNT, 34 [95% CI, 22-67]) and prophylactic ethamsylate (RR, 0.68 [95% CI, 0.48-0.97]; ARD, -4% [95% CI, -7% to 0%]; NNT, 26 [95% CI, 13-372]) were associated with moderate reduction in sIVH risk (low certainty). The meta-analysis also showed with low certainty that compared with delayed cord clamping, umbilical cord milking was associated with a moderate increase in sIVH risk (RR, 1.82 [95% CI, 1.03-3.21]; ARD, 3% [95% CI, 0%-6%]; NNT, -30 [95% CI, -368 to -16]).
CONCLUSIONS AND RELEVANCE
Results of this study suggest that a few interventions, including antenatal corticosteroids and indomethacin prophylaxis, were associated with reduction in sIVH risk (moderate certainty), and volume-targeted ventilation, early erythropoiesis-stimulating agents, and prophylactic ethamsylate were associated with reduction in sIVH risk (low certainty) in preterm neonates. However, clinicians should carefully consider all of the critical factors that may affect applicability in these interventions, including certainty of the evidence, before applying them to clinical practice.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Ethamsylate; Parturition; Adrenal Cortex Hormones; Cerebral Hemorrhage; Indomethacin; Brain Injuries
PubMed: 37052920
DOI: 10.1001/jamanetworkopen.2023.7473 -
Journal of Ultrasound Jun 2020Nowadays, cranial ultrasonography (US) of the newborn represents the first imaging method in brain damage study and its possible outcomes. This exam is performed using... (Review)
Review
Nowadays, cranial ultrasonography (US) of the newborn represents the first imaging method in brain damage study and its possible outcomes. This exam is performed using the natural fontanelles, especially the anterior one. It is fast, non-invasive and does not produce any side effect. Ultrasonographic examination is usually performed in cases of prematurity, especially in children with birth weight less than 1500 g, because important informations about the possible presence of pathologies such as cerebral hemorrhage and hypoxic-ischemic encephalopathy are given. This approach can be useful also in the study of pre- and post-natal infections, for example, type II Herpes Simplex virus or Cytomegalovirus infections, or pointing out vascular malformations such as vein of Galen aneurysm. Although less important than methods such as computed tomography (CT) and magnetic resonance imaging (MRI) in the evaluation of trauma and tumors, ultrasound can provide useful informations or be used in first instance in the suspicion of a brain mass.
Topics: Brain; Brain Diseases; Echoencephalography; Female; Humans; Infant; Infant, Newborn; Male
PubMed: 30552663
DOI: 10.1007/s40477-018-0349-7 -
Translational Pediatrics Apr 2021Cranial ultrasound (CUS) is an extremely valuable tool to evaluate the brain during the first year of life, in experienced hands. It is the initial screening imaging... (Review)
Review
Cranial ultrasound (CUS) is an extremely valuable tool to evaluate the brain during the first year of life, in experienced hands. It is the initial screening imaging tool to evaluate the infants' brain and complementary to the use of computed tomography (CT) and magnetic resonance imaging (MRI). It is an accessible, inexpensive and harmless technique that can be used bedside as frequently as needed. The aim of this article is to provide a guide for beginners about the indications, basic technical parameters, scanning technique, standardized planes, common variants and the most frequent abnormal findings visualized with this technique. This article will explain a systematic technique to adequately visualize and document all the relevant intracranial structures, using the anterior fontanelle, mastoid fontanelle and Doppler ultrasound. The variants described in this review include the normal sulcation of the premature baby, the peritrigonal echogenic "blush", lenticulostriate vasculopathy (LSV), benign enlargement of the subrarachnoid space in infancy, asymmetric lateral ventricles, connatal cysts, cavum septum pellucidum (CSP), cavum vergae (CV), cavum velum interpositum, megacisterna magna and choroid plexus cysts. This article will describe the sonographic appearance of different types of intracranial hemorrhage of the preterm and term baby, periventricular leukomalacia (PVL), central and peripheral hypoxic-ischemic events of the term baby, neonatal arterial infarction, cerebro-venous sinus thrombosis, congenital and neonatal cerebral infections, hydrocephalus, intracranial solid and cystic masses, and congenital brain malformations.
PubMed: 34012859
DOI: 10.21037/tp-20-399 -
Turk Pediatri Arsivi 2020Germinal matrix-intraventricular hemorrhage (GM-IVH) is a major complication of prematurity and inversely associated with gestational age and birth weight. The... (Review)
Review
Germinal matrix-intraventricular hemorrhage (GM-IVH) is a major complication of prematurity and inversely associated with gestational age and birth weight. The hemorrhage originates from the germinal matrix with an immature capillary bed where vascularization is intense and active cell proliferation is high. It occurs in around 20% of very low-birth-weight preterm neonates. Germinal matrix-intraventricular hemorrhage is less common in females, the black race, and with antenatal steroid use, but is more common in the presence of mechanical ventilation, respiratory distress, pulmonary bleeding, pneumothorax, chorioamnionitis, asphyxia, and sepsis. Ultrasonography is the diagnostic tool of choice for intraventricular hemorrhage and its complications. Approximately 25-50% of the germinal matrix-intraventricular hemorrhage cases are asymptomatic and diagnosed during routine screening. These cases are usually patients with low-grade hemorrhage. Neurologic findings are prominent in severe intraventricular hemorrhage cases. The major complications of the germinal matrix-intraventricular hemorrhage in preterm babies are periventricular hemorrhagic infarction, posthemorrhagic ventricular dilatation, periventricular leukomalacia, and cerebellar hemorrhage. It is an important cause of mortality and morbidity. The management of hemodynamics and ventilation of patients, appropriate follow-up, and early diagnosis and treatment can minimize morbidity. Prognosis in intraventricular hemorrhage is related to the severity of bleeding, parenchymal damage, and the presence of seizures and shunt surgery. The main determinant of prognosis is periventricular hemorrhagic infarction and its severity. Moderate-severe intraventricular hemorrhage can cause posthemorrhagic hydrocephalus, cerebral palsy, and mental retardation. Even mild germinal matrix-intraventricular hemorrhage can result in developmental disorders. Long-term problems such as neurodevelopmental disorders and cerebral palsy are as important as short-term problems. Improving the quality of life of these babies should be aimed through appropriate treatment and follow-up. In this review, intraventricular hemorrhage and complications are discussed.
PubMed: 33061747
DOI: 10.14744/TurkPediatriArs.2020.66742