1,721,093 research outputs found
Pathology of the central autonomic nervous system in stillbirth
No full textThe aim of this study was to identify in stillbirth a possible involvement of morphological and/or physiological alterations of structures of the central autonomic nervous system in the mechanism of death. The study, including the in-depth histological examination of brainstem and cerebellum, was performed on 42 stillbirths, aged from 22 to 40 gestational weeks, 12 of which were explained and 30 were unexplained deaths. In the sudden unexplained stillbirths a variety of morphological and/or biological abnormalities of different structures and nuclei was found, above all the hypoplasia of the parafacial complex, frequently associated with hypoplasia of the arucate and pre-Bötzinger nuclei, and with thyrosine-hydroxilase immunonegativity in the locus coeruleus. A significant correlation was also observed between the neuropathologic findings and mother’s smoking habit
Proposal of the Acronym “SIUDS” for Unexplained Stillbirths, Like “SIDS”
No full textThe authors, propose that also a sudden death during pregnancy that remains unexplained after an in-depth autopsy, should be considered as a syndrome and referred with the acronym “SIUDS”, e.g., “Sudden Intrauterine Unexplained Death Syndrome”, like “SIDS” for “Sudden Infant Death Syndrome”. This suggested definition is based on the presence in these pathologies of common developmental abnormalities of both the autonomic nervous system and the cardiac conduction system, associated to the same preventable risk factors
Functional neuroanatomy of the human pre-Bötzinger complex with particular reference to sudden unexplained perinatal and infant death
No full textThe authors are the first to identify in man the pre-Bötzinger complex, a structure of the brainstem critical for respiratory rhythmogenesis, previously investigated only in rats. The evaluation of the neurokinin 1 receptors and somatostatin immunoreactivity in a total of 63 brains from 25 fetuses, nine newborns and 29 infants, allowed to delineate the anatomic structure and the boundaries of this human neural center in a restricted area of the ventrolateral medulla at the obex level, ventral to the semicompact ambiguus nucleus. The neurons of the pre-Bötzinger complex were roundish in fetuses before 30 gestational weeks and lengthened after birth, embedded in a dendritic system belonging to the reticular formation. Besides, structural and/or functional alterations of the pre-Bötzinger complex were present in a high percentage of sudden deaths (47%), prevalent in late fetal deaths. In particular, different developmental defects (hypoplasia with a decreased neuronal number and/or dendritic hypodevelopment of the reticular formation, abnormal neuronal morphology, immunonegativity of neurotransmitters, and agenesis) were found. The authors suggest that the pre-Bötzinger complex contains a variety of neurons not only involved in respiratory rhythm generation, but more extensively, essential to the control of all vital functions. Sudden death and in particular sudden unexpected fetal death could therefore be ascribed to a selective process when developmental alterations of the pre-Bötzinger complex arise
MORTE FETALE versus SIDS (Legge n.31)-PATOLOGIE (CONGENITE) DEL SISTEMA NEUROVEGETATIVO E DI CONDUZIONE CARDIACO LEGATE ALL’EMBRIOGENESI E ALLO SVILUPPO NELLA MORTE INSPIEGABILE PERINATALE E NELLA SIDS
No full textL’applicazione della Legge 31/2006 “Disciplina del riscontro diagnostico sulle vittime della sindrome della morte improvvisa
del lattante (SIDS) e di morte inaspettata del feto” ha consentito di sviluppare approfondite indagini anatomo-cliniche.
Attraverso lo studio neuropatologico è stata individuata l’eziopatogenesi sia della morte fetale inaspettata e inspiegabile
che della SIDS. Trattasi di anomalie congenite comuni a queste patologie. L’acquisizione dell’origine comune di tali
patologie consente di unificare l’inquadramento nosografico, anche ai fini di valutazioni epidemiologiche. Nel complesso
le anomalie congenite sono più diffuse nelle morti fetali inspiegabili ante-partum. In tale ambito caratteristico è il difetto
di sviluppo del complesso facciale/parafacciale, modulatore delle attività vitali. Nelle morti fetali intra-partum frequente
è il riscontro di ipoplasia/agenesi del complesso parabrachiale/nucleo di Kölliker-Fuse che presiede all’inizio dell’attività
respiratoria. Nelle morti inaspettate neonatali precoci e nella SIDS le anomalie sono più limitate e comprendono l’ipoplasia
del nucleo arcuato e della formazione reticolare respiratoria. Frequente è il riscontro di vie accessorie atrio-ventricolari,
substrato di aritmie anche mortali da rientro; esse sono spesso associate alle anomalie del sistema nervoso autonom
Recurrent chromosome alterations in non-small cell lung cancer.
No full textCytogenetic analysis of 28 cases of non-small cell lung cancer (NSCLC) was carried out in an attempt to determine karyotype changes involved in the early state of disease. Our findings indicate that, even though karyotypes are very complex, recurrent cytogenetic changes can be identified. The most common structural rearrangements were deletions of chromosomes 3, 17 and 9. The most frequent numerical alterations were gain of chromosomes 7 and 20 and loss of chromosomes 1 and Y. In particular, the high frequency of deletions suggests a critical role of suppressor oncogenes in these chromosome regions in tumor development
Sudden unexpected death in young athletes
No full textA 13-year-old white boy died suddenly and unexpectedly while playing soccer. This case acquires a unique interest because of the coincidence of sudden unexpected death in a 13-year-old boy, anomalous origin of the left coronary artery from the right aortic sinus of Valsalva, anomalous location of the right coronary ostium within proper aortic sinus of Valsalva, hyperacute myocardial infarction, and myocardial fibrosis. The authors are convinced that the cardiovascular evaluation of young athletes needs to be focused on the identification of individuals at high risk of sudden cardiac arrest, paying attention to suggestive symptoms and to a family history of sudden death due to cardiac arrest, particularly at an early age. In addition, enquiry should be made into the concomitant presence of a smoking habit or of passive smoke exposure
Ontogenesis of human cerebellar cortex and biopathological characterization in sudden unexplained fetal and infant death
No full textThe aims of this study were to investigate in the human cerebellar cortex the structural and biological ontogenetic features, the possible presence of alterations in cases of sudden unexplained fetal and infant death, and the involvement of the maternal cigarette smoking in developmental abnormalities. We analyzed 52 brains of fetal and infant death victims, aged from the second gestational trimester to 12th postnatal month. In the cerebellar cortex we evaluated, besides the morphological aspects, the expression of several biomarkers implicated in proliferative processes (c-fos, proliferating cell nuclear antigen, and apoptosis) as well as the presence of the neurotransmitter somatostatin, which is strongly implicated in central nervous system differentiation, and of EN2 gene. The observed features of the cerebellar cortex, mainly confined to the transient external granular layer, were high proliferative activity and high expression of both somatostatin and EN2 gene in prenatal life and high apoptotic index after birth. In 41% of the sudden unexplained death victims, in the greater part with smoking mothers, we observed different biopathological alterations of the cerebellar cortex. Maternal smoking is increasingly being demonstrated to be one of the main contributors to developmental neurological alterations in the offspring
Adverse effect of prenatal tobacco smoke exposure on biological parameters of the developing brainstem
No full textWe aimed to study the consequences of chronic exposure to tobacco smoke in utero on the morphological and functional maturation of the brainstem by comparing stillbirths of smoker mothers versus nonsmoker mothers. A total of 42 stillbirths, aged 25-40 gestational weeks, underwent autopsy according to our guidelines (). The brainstem was studied on serial sections and by immunohistochemistry to assay the expression of the EN2 gene, somatostatin (SS) and the tyrosine hydroxylase enzyme (TH). We observed a significant correlation between maternal smoking and sudden intrauterine unexplained death (SIUD), hypoplasia of the ArcN, no immunostaining of the EN2 in the arcuate nucleus (ArcN), and of TH in the locus coeruleus (LC) (P < 0.05). An increased incidence of maternal smoking was also observed in fetuses with SS negativity in the hypoglossus nucleus (HypoglN). Exposure in utero to maternal smoking may strongly interfere with brain biological parameters, giving rise not only to structural developmental abnormalities of the arcuate nucleus, but also to a decrease of noradrenergic activity in the LC, of EN2 gene expression in the ArcN and of SS in the HypoglN
Reply to the Letter to Editor of Mage and Donner about the work "Developmental alterations of the auditory brainstem centers - pathogenetic implications in sudden infant death syndrome" (J Neurol Sci. 2015 doi: 10.1016/j.jns.2015.07.050)
No full textWe realize that the Mage and Donner's observations do not refer specifically to our work on the alterations of the centers that control hearing in SIDS but rather on “the common belief (not only ours but
also of other authors) that SIDS is a developmental defect of neurologic origin”. Basically they with this letter to the Editor highlight that there are two lines of thought about the significance of the neuropathological findings in SIDS, namely: 1) they are primary event and 2) they are secondary to hypoxia
Role of somatostatin and apoptosis in breathing control in sudden perinatal and infant unexplained death
No full textOBJECTIVES: To obtain basic information about the expression of somatostatin in the human central nervous system and, in particular, to evaluate its possible involvement in unexplained perinatal and in sudden infant death syndrome. MATERIAL: Sixty-seven brainstems from subjects aged from 30 gestational weeks to 12 postnatal months, dying of both known and unknown causes, were selected for this study. The unexplained deaths included 17 sudden intrauterine deaths, 5 sudden neonatal deaths and 28 sudden infant deaths. METHOD: All brainstems were fixed in 10% phosphate-buffered formalin, processed and embedded in paraffin, according to our protocol available on the web site: http://users.unimi.it/-pathol/sids/riscontro_diagnostico_e.html. The distribution of the somatostatin in the brainstem was studied by immunohistochemistry on serial sections. RESULTS: We observed an intense somatostatin positivity in many brainstem nuclei prevalently involved in the respiratory activity (parabrachial/Kölliker-Fuse complex, locus coeruleus, hypoglossus nucleus, dorsal vagus motor nucleus, tractus solitarii nucleus, ambiguus nucleus, reticular formation) in stillbirths. In 10 fetuses with unexplained death the neurons of the hypoglossus nucleus were somatostatin-negative. In the postnatal deaths, we observed immunopositivity in the ventrolateral and ventral subnuclei of the tractus solitarii nucleus. Besides, in 15 sudden infant death victims and in 1 control case, somatostatin-positive neurons were also present in the hypoglossus nucleus. In 10 of these 15 cases, a high apoptotic index was also reported. CONCLUSIONS: We suggest that abnormalities in the distribution of SS in the hypoglossus nucleus before and after birth may contribute to the induction of both fatal breathing in prenatal life and abnormal ventilatory control after birth leading to irreversible apnea
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