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Cecilia Parazzini

Publications and source records attributed to Cecilia Parazzini.

13 recordsLinked to original sources
PubMed2025

COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and management.

PURPOSE: Collagen type 4 alpha 1 (COL4A1) and alpha 2 (COL4A2) chains, encoded by COL4A1 and COL4A2, are essential for basement membrane integrity, contributing to structural stability and cell regulation. Pathogenic variants in these genes cause a spectrum of autosomal dominant and, more rarely, autosomal recessive disorders, which are collectively known as COL4A1/A2-related disorders. These multisystem disorders can include neurologic, ophthalmologic, renal, and other organ system pathology and vary widely in symptoms, complicating diagnosis and management. METHODS: Using a modified eDelphi method, we obtained consensus from international experts across medical subspecialties on the evaluation and management of COL4A1/A2-related disorders, with consensus set at ≥70% agreement. RESULTS: Consensus was achieved on recommendations for evaluating and managing these conditions. CONCLUSION: Genetic testing and counseling are advised for individuals showing symptoms of COL4A1/A2-related disorders and for at-risk relatives. Given the complexity and rarity of these disorders, management requires a multidisciplinary approach informed by current understanding of disease mechanisms. Recommended care includes neurological and ophthalmological imaging and monitoring of cardiovascular and renal function. Ongoing research is critical to uncover genotype-phenotype links and potential modifiers, with clinical research participation encouraged to advance knowledge and treatments.

Humans↗
PubMed2006

Magnetic resonance imaging assessment of brain maturation in preterm neonates with punctate white matter lesions.

INTRODUCTION: Early white matter (WM) injury affects brain maturation in preterm infants as revealed by diffusion tensor imaging and volumetric magnetic resonance (MR) imaging at term postmenstrual age (PMA). The aim of the study was to assess quantitatively brain maturation in preterm infants with and without milder forms of WM damage (punctate WM lesions, PWML) using conventional MRI. METHODS: Brain development was quantitatively assessed using a previously validated scoring system (total maturation score, TMS) which utilizes four parameters (progressive myelination and cortical infolding, progressive involution of glial cell migration bands and germinal matrix tissue). PWML were defined as foci of increased signal on T1-weighted images and decreased signal on T2-weighted images with no evidence of cystic degeneration. A group of 22 preterm infants with PWML at term PMA (PWML group) were compared with 22 matched controls with a normal MR appearance. RESULTS: The two groups were comparable concerning gestational age, birth weight and PMA. TMS was significantly lower in the PWML group than in the control group (mean TMS 12.44 +/- 2.31 vs 14.00 +/- 1.44; P = 0.011). Myelination (mean 2.76 +/- 0.42 PWML group vs 3.32 +/- 0.55 control group, P = 0.003) and cortical folding (3.64 +/- 0.79 vs 4.09 +/- 0.43, P = 0.027) appeared to be significantly delayed in babies with PWML. CONCLUSION: Conventional MRI appears able to quantify morphological changes in brain maturation of preterm babies with PWML; delayed myelination and reduced cortical infolding seem to be the most significant aspects.

Brain↗
PubMed2006

Patterns of damage in the mature neonatal brain.

Patterns of damage in the mature neonatal brain can be subdivided into focal, multifocal and diffuse. The main cause of diffuse brain damage in the term newborn is hypoxic-ischaemic encephalopathy (HIE). HIE is still the major recognized perinatal cause of neurological morbidity in full-term newborns. MRI offers today the highest sensitivity in detecting acute anoxic injury of the neonatal brain. Conventional acquisition techniques together with modern diffusion techniques can identify typical patterns of HIE injury, even in the early course of the disease. However, even though highly suggestive, these patterns cannot be considered as pathognomonic. Perinatal metabolic disease such as kernicterus and severe hypoglycaemia should be differentiated from classic HIE. Other conditions, such as infections, non-accidental injury and rarer metabolic diseases can be misinterpreted as HIE in their early course when diffuse brain swelling is still the predominant MRI feature. Diffusion techniques can help to differentiate different types of diffuse brain oedema. Typical examples of focal injuries are arterial or venous infarctions. In arterial infarction, diffusion techniques can define more precisely than conventional imaging the extent of focal infarction, even in the hyperacute phase. Moreover, diffusion techniques provide quantitative data of acute corticospinal tract injury, especially at the level of the cerebral peduncles. Venous infarction should be suspected in every case of unexplained cerebral haematoma in the full-term newborn. In the presence of spontaneous bleeding, venous structures should always be evaluated by MR angiography.

Asphyxia Neonatorum↗
PubMed2006

Magnetic resonance imaging of fetal cerebellar development.

In the last few years fetal magnetic resonance imaging (MRI) has been proposed as a second level technique in the evaluation of fetal brain anomalies. It has been demonstrated that MRI is highly accurate in illustrating the morphologic changes of developing brain and fetal brain abnormalities being a useful procedure when ultrasonography is inconclusive or doubtful. Starting from the 19-20 weeks gestational age (GA), MRI can reliably depict fetal brain anatomy and locating pathology, offering a robust and reliable tool in the assessment of fetal CNS diseases. In this review both in vivo MRI quantitative and qualitative data about fetal cerebellar development are presented and compared with ultrasonography data. Fetal cerebellar development is gradual, steady, and largely comparable to the development of the supratentorial brain. Archicerebellar (flocculo-nodular lobe) and paleocerebellar (vermis) structures develop first, whereas neocerebellum (cerebellar hemispheres) develop slowly and largely after birth.

Cerebellum↗
PubMed2005

Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation.

OBJECTIVE: To describe an unreported brain malformation with in utero onset. METHODS: A 21-weeks-of-gestational-age fetus underwent prenatal MR imaging because of macrocephaly detected by ultrasound. Prenatal MR imaging revealed a complex brain malformation. At 22 weeks of GA, pregnancy was terminated; an MR autopsy study was also performed. RESULTS: MR imaging revealed frontal bilateral megalencephaly and malformation of cortical development, suggesting polymicrogyria. These findings do not fit into any of the known megalencephalic syndromes. CONCLUSIONS: To our knowledge, this is a previously unreported malformation. Fetal and autoptic MR examination have been the best tools in understanding this complex brain pathology, allowing a more complete genetic counseling.

Adult↗
PubMed2005

MRI of fetal and neonatal cerebellar development.

In the last few years magnetic resonance imaging (MRI) has expanded its diagnostic capability in the evaluation of fetal brain. Starting from the 18th to 20th gestational weeks, MRI can reliably depict fetal brain anatomy and locate pathology, offering a robust and reliable tool for the assessment of disorders of the fetal central nervous system. In this review quantitative and qualitative in vivo MRI data on fetal cerebellar development are presented. Our normative reference data have been obtained from a database of 580 MR fetal imaging studies. Normal cases were selected within normal MRI fetal brain studies, and all selected cases had a normal clinical evaluation and a normal cranial ultrasound or MR image after birth. Fetal cerebellar development is gradual, steady, and grossly comparable to the development of the supratentorial brain. Archicerebellar (flocculonodular lobe) and paleocerebellar (vermis) structures develop before the neocerebellum (cerebellar hemispheres) that develops more slowly and largely after birth.

Cerebellum↗
PubMed2004

Early prenatal MR imaging diagnosis of polymicrogyria.

The case of a 24-week-old fetus that showed features suggestive of focal cortical developmental anomaly at prenatal MR imaging is presented. The anomaly was confirmed to be polymicrogyria by 34-week prenatal and the 3-day postnatal MR imaging studies. The report demonstrates that the development of polymicrogyria can be assessed throughout different stages by prenatal MR imaging. In the case reported, the additional presence of periventricular heterotopia strongly suggests that a neuronal migration alteration coexisted with a postmigrational disorder.

Adolescent↗
PubMed2003

Apparent diffusion coefficient determination in normal fetal brain: a prenatal MR imaging study.

BACKGROUND AND PURPOSE: Diffusion-weighted MR imaging studies of normal brain development have focused on premature babies who were free of focal lesions on conventional MR images. The condition of prematurity, however, is dissimilar to intrauterine life. We sought to establish normal values of fetal brain apparent diffusion coefficient (ADC) to highlight its abnormal changes in pathologic conditions and to obtain information about normal brain development. METHODS: We measured the ADC, in utero, by using an echo-planar three-axes diffusion-sensitized sequence (b factor, 0 and 600 s/mm(2)), in frontal and occipital white matter and basal ganglia gray matter of 15 fetuses. Their gestational ages ranged from 22 to 35 weeks, and the postnatal MR images or sonograms revealed normal brain. RESULTS: Mean ADC value was 1.96 +/- 0.1 micro m(2)/ms (SD) in frontal white matter, 1.95 +/- 0.1 micro m(2)/ms in occipital white matter, and 1.56 +/- 0.1 micro m(2)/ms in basal ganglia. A significant negative correlation between ADC and gestational age was found for basal ganglia, whereas only a trend was present for frontal white matter. CONCLUSION: Although moderately higher, the ADC determinations we obtained are consistent with those reported in the literature in postnatal studies performed in premature babies.

Adult↗
PubMed2002

Demonstration of acute ischemic lesions in the fetal brain by diffusion magnetic resonance imaging.

The possibility of detecting acute hypoxic-ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case of a fetus with a vein of Galen arteriovenous malformation in whom prenatal diffusion-weighted magnetic resonance imaging at 33 weeks of gestation clearly detected cerebral acute ischemic lesions, associated with remarkable decrease of the average apparent diffusion coefficient, whereas T2-weighted imaging was still not informative.

Acute Disease↗
PubMedDate not supplied

Magnetic resonance imaging in prenatal diagnosis of dacryocystocele: report of 3 cases.

The presence of cystic dilation of the lacrimal drainage system (dacryocystocele) in the fetus must be differentiated from less benign paraocular masses. Three cases of dacryocystocele studied during fetal life by ultrasound and magnetic resonance (MR) imaging are reported. The accuracy of prenatal MR imaging facilitated a definite diagnosis depicting the characteristic triad of dacryocystocele: paraocular cystic mass in the medial canthus region, nasolacrimal duct enlargement, and intranasal cyst.

Adult↗
PubMedDate not supplied

Terminal zones of myelination: MR evaluation of children aged 20-40 months.

BACKGROUND AND PURPOSE: MR imaging is the method of choice for assessment in vivo of the development of myelination of the human central nervous system. During the first months of life, the myelination process follows well-defined steps, whereas little information exists about the later phases of myelination. To improve our understanding of this aspect and to identify the specific sites involved in the process of myelination in its terminal phase, we evaluated normal MR brain studies in children aged 20-40 months. METHODS: We retrospectively evaluated 85 MR brain studies of 81 children aged 20-40 months who were without diseases potentially affecting white matter. The MR studies were performed with a 1.5-T system, with T2-weighted spin-echo and turbo spin-echo sequences. Subjective analysis of the signal intensity of the white matter was made in four areas: subcortical frontal, temporal, and parietal lobes and peritrigonal region. Extension of myelination was graded on an ordinal scale; 0 indicated the absence of myelin, and the maximum value indicated complete myelination. RESULTS: A persistent T2 hyperintensity of the subcortical areas was noted after 20 months of age. With advancing age, a progressive increase in the grade of myelination was noted in these regions, and at about 40 months of age myelination was complete. However, in most of our patients aged 20 months, myelination in the peritrigonal areas appeared complete. CONCLUSION: The only area that can still exhibit a persistent T2 hyperintensity on MR images at about 2 years of age is considered to be the peritrigonal region: the so-called terminal zone. At this age in our patients, however, a persistent T2 hyperintensity was noted in the frontotemporal subcortical regions. In these areas, the myelination appeared complete at 36-40 months of age. The so-called terminal zones were the subcortical areas rather than the peritrigonal area, and complete myelination took place by about age 3 years.

Age Factors↗