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1.
Birth Defects Res ; 112(2): 205-211, 2020 01 15.
Article in English | MEDLINE | ID: mdl-31758757

ABSTRACT

BACKGROUND: Neural tube defects (NTDs) result from failure of neural tube closure during embryogenesis. These severe birth defects of the central nervous system include anencephaly and spina bifida, and affect 0.5-2 per 1,000 pregnancies worldwide in humans. It has been demonstrated that acetylation plays a pivotal role during neural tube closure, as animal models for defective histone acetyltransferase proteins display NTDs. Acetylation represents an important component of the complex network of posttranslational regulatory interactions, suggesting a possible fundamental role during primary neurulation events. This study aimed to assess protein acetylation contribution to early patterning of the central nervous system both in human and murine specimens. METHODS: We used both human and mouse (Cited2 -/- ) samples to analyze the dynamic acetylation of proteins during embryo development through immunohistochemistry, western blot analysis and quantitative polymerase chain reaction. RESULTS: We report the dynamic profile of histone and protein acetylation status during neural tube closure. We also report a rescue effect in an animal model by chemical p53 inhibition. CONCLUSIONS: Our data suggest that the p53-acetylation equilibrium may play a role in primary neurulation in mammals.


Subject(s)
Neural Tube Defects/embryology , Neurulation/genetics , Acetylation , Anencephaly/etiology , Anencephaly/physiopathology , Animals , Disease Models, Animal , Embryonic Development/genetics , Embryonic Development/physiology , Histone Acetyltransferases/metabolism , Humans , Mammals , Mice/embryology , Neurulation/physiology , Repressor Proteins/genetics , Repressor Proteins/metabolism , Spinal Dysraphism/etiology , Spinal Dysraphism/physiopathology , Trans-Activators/genetics , Trans-Activators/metabolism , Transcription Factors , Tumor Suppressor Protein p53/genetics , Tumor Suppressor Protein p53/metabolism
2.
Biochimie ; 163: 142-151, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31201844

ABSTRACT

Widely dispersed throughout the entire body tissues, gangliosides (GGs) are essential components of neuronal cell membranes, where exhibit a vital role in neuronal function and brain development, directly influencing the neural tube formation, neurogenesis, neurotransmission, etc. Due to several factors, partial or complete closing faults of the fetal neural tube may occur in the first trimester of pregnancy, generating a series of neural tube defects (NTD), among which anencephaly. The absence in anencephaly of the forebrain and skull bones determines the exposure to the amniotic fluid of the remaining brain tissue and the spinal cord, causing the degeneration of the nervous system tissue. Based on the previously achieved information related to the direct alteration of neural development with deficient concentration of several GGs, a systematic and comparative mass spectrometry (MS) mapping assay on GGs originating from fetuses in different intrauterine developmental stages, i.e. the 29th (denoted An29), 35th (An35) and the 37th (An37) gestational weeks was here conducted. Our approach, based on Orbitrap MS under high sensitivity, resolution and mass accuracy conditions, enabled for the first time the nanoelectrospray ionization, detection and identification of over 150 glycoforms, mainly novel, polysialylated species. Such a pattern, specific for incipient developmental stages reliably documents the brain development stagnation, characteristic for anencephaly. Further, the fragmentation MS2-MS3 experiments by collision induced dissociation (CID) confirmed the incidence in all three samples of GT2(d18:1/16:2) as a potential biomarker. Therefore, this fingerprinting of the anencephalic gangliosidome may serve in development of approaches for routine screening and early diagnosis.


Subject(s)
Anencephaly/metabolism , Brain/metabolism , Fetal Development , Gangliosides/analysis , Spectrometry, Mass, Electrospray Ionization , Anencephaly/diagnosis , Anencephaly/physiopathology , Biomarkers/analysis , Brain/physiopathology , Data Accuracy , Fetus/metabolism , Fetus/physiopathology , Humans , Male , Metabolomics , Sensitivity and Specificity
3.
Sci Rep ; 9(1): 7821, 2019 05 24.
Article in English | MEDLINE | ID: mdl-31127169

ABSTRACT

The ill-named "logic of monsters" hypothesis of Pere Alberch - one of the founders of modern evo-devo - emphasized the importance of "internal rules" due to strong developmental constraints, linked teratologies to developmental processes and patterns, and contradicted hypotheses arguing that birth defects are related to a chaotic and random disarray of developmental mechanisms. We test these hypotheses using, for the first time, anatomical network analysis (AnNA) to study and compare the musculoskeletal modularity and integration of both the heads and the fore- and hindlimbs of abnormal cyclopic trisomy 18 and anencephalic human fetuses, and of normal fetal, newborn, and adult humans. Our previous works have shown that superficial gross anatomical analyses of these specimens strongly support the "logic of monsters" hypothesis, in the sense that there is an 'order' or 'logic' within the gross anatomical patterns observed in both the normal and abnormal individuals. Interestingly, the results of the AnNA done in the present work reveal a somewhat different pattern: at least concerning the musculoskeletal modules obtained in our AnNA, we observe a hybrid between the "logic of monsters" and the "lack of homeostasis" hypotheses. For instance, as predicted by the latter hypothesis, we found a high level of left-right asymmetry in the forelimbs and/or hindlimbs of the abnormal cyclopic trisomy 18 and anencephalic human fetuses. That is, a network analysis of the organization of/connection between the musculoskeletal structures of these fetuses reveals a more "chaotic" pattern than that detected by superficial gross anatomical comparisons. We discuss the broader developmental, evolutionary, and medical implications of these results.


Subject(s)
Anencephaly/physiopathology , Holoprosencephaly/physiopathology , Musculoskeletal Development/physiology , Teratogenesis/physiology , Teratology/methods , Adult , Arm/abnormalities , Arm/growth & development , Female , Fetal Development/physiology , Fetus/abnormalities , Head/abnormalities , Head/growth & development , Homeostasis/physiology , Humans , Infant, Newborn , Leg/abnormalities , Leg/growth & development , Male
4.
Hum Genet ; 137(3): 195-202, 2018 Mar.
Article in English | MEDLINE | ID: mdl-29423651

ABSTRACT

Neural tube defects (NTDs), which include spina bifida and anencephaly, are the second most common form of human structural congenital malformations. While it is well established that SHROOM3 plays a pivotal role in the complex morphogenetic processes involved in neural tube closure (NTC), the underlying genetic contributions of SHROOM gene family members in the etiology of human NTDs remain poorly understood. Herein, we systematically investigated the mutation patterns of SHROOM1-4 in a Chinese population composed of 343 NTD cases and 206 controls, using targeted next-generation sequencing. Functional variants were further confirmed by western blot and the mammalian two-hybrid assays. Loss of function (LoF) variants were identified in SHROOM3. We observed 1.56 times as many rare [minor allele frequency (MAF) < 0.01] coding variants (p = 2.9 × 10-3) in SHROOM genes, and 4.5 times as many rare D-Mis (deleterious missense) variants in SHROOM2 genes in the NTD cases compared with the controls. D-Mis variants of SHROOM2 (p.A1331S; p.R1557H) were confirmed by Sanger sequencing, and these variants were determined to have profound effects on gene function that disrupted their binding with ROCK1 in vitro. These findings provide genetic and molecular insights into the effects of rare damaging variants in SHROOM2, indicating that such variants of SHROOM2 might contribute to the risk of human NTDs. This research enhances our understanding of the genetic contribution of the SHROOM gene family to the etiology of human NTDs.


Subject(s)
Anencephaly/genetics , Membrane Proteins/genetics , Microfilament Proteins/genetics , Neural Tube Defects/genetics , Aborted Fetus , Anencephaly/physiopathology , China , Cohort Studies , DNA Mutational Analysis , Female , Humans , Loss of Function Mutation/genetics , Male , Membrane Proteins/chemistry , Microfilament Proteins/chemistry , Neural Tube Defects/physiopathology , Spinal Dysraphism/genetics , Spinal Dysraphism/physiopathology
5.
Clin Genet ; 93(4): 870-879, 2018 04.
Article in English | MEDLINE | ID: mdl-29205322

ABSTRACT

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in-house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop-gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly.


Subject(s)
Anencephaly/genetics , Epistasis, Genetic , Neural Tube Defects/genetics , Spinal Dysraphism/genetics , Anencephaly/physiopathology , Animals , Disease Models, Animal , Female , Genetic Association Studies , Humans , Male , Mice , Mutation , Neural Tube Defects/physiopathology , Phenotype , Pregnancy , Skull/abnormalities , Skull/physiopathology , Spinal Dysraphism/physiopathology , Exome Sequencing
6.
Hum Mol Genet ; 26(6): 1104-1114, 2017 03 15.
Article in English | MEDLINE | ID: mdl-28087737

ABSTRACT

Anencephaly (APH) is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to APH. APH shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of APH has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C > A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive APH in an Indian family. The TRIM36 gene is expressed in the developing brain, suggesting a role in neurogenesis. In silico analysis showed that proline at codon position 508 is highly conserved in 26 vertebrate species, and the mutation is predicted to affect the conformation of the B30.2/SPRY domain of TRIM36. Both in vitro and in vivo results showed that the mutation renders the TRIM36 protein less stable. TRIM36 is known to associate with microtubules. Transient expression of the mutant TRIM36 in HeLa and LN229 cells resulted in microtubule disruption, disorganized spindles, loosely arranged chromosomes, multiple spindles, abnormal cytokinesis, reduced cell proliferation and increased apoptosis as compared with cells transfected with its wild-type counterpart. The siRNA knock down of TRIM36 in HeLa and LN229 cells also led to reduced cell proliferation and increased apoptosis. We suggest that microtubule disruption and disorganized spindles mediated by mutant TRIM36 affect neural cell proliferation during neural tube formation, leading to APH.


Subject(s)
Anencephaly/epidemiology , Anencephaly/genetics , Carrier Proteins/genetics , Mutation/genetics , Anencephaly/physiopathology , Exome/genetics , Female , Fetus , Homozygote , Humans , India/epidemiology , Male , Pedigree
7.
Nutrients ; 8(11)2016 Nov 23.
Article in English | MEDLINE | ID: mdl-27886045

ABSTRACT

Neural tube defects (NTDs) are a group of severe congenital malformations, induced by the combined effects of genes and the environment. The most valuable finding so far has been the protective effect of folic acid supplementation against NTDs. However, many women do not take folic acid supplements until they are pregnant, which is too late to prevent NTDs effectively. Long-term intake of folic acid-fortified food is a good choice to solve this problem, and mandatory folic acid fortification should be further promoted, especially in Europe, Asia and Africa. Vitamin B2, vitamin B-6, vitamin B-12, choline, betaine and n-3 polyunsaturated fatty acids (PUFAs) can also reduce the NTD risk by interacting with the one-carbon metabolism pathway. This suggest that multivitamin B combined with choline, betaine and n-3 PUFAs supplementation may have a better protective effect against NTDs than folic acid alone. Genetic polymorphisms involved in one-carbon metabolism are associated with NTD risk, and gene screening for women of childbearing age prior to pregnancy may help prevent NTDs induced by the risk allele. In addition, the consumption of alcohol, tea and coffee, and low intakes of fruit and vegetable are also associated with the increased risk of NTDs, and should be avoided by women of childbearing age.


Subject(s)
Anencephaly/metabolism , Anencephaly/prevention & control , Carbon/metabolism , Dietary Supplements , Folic Acid Deficiency/therapy , Folic Acid/administration & dosage , Maternal Nutritional Physiological Phenomena , Nutritional Status , Anencephaly/genetics , Anencephaly/physiopathology , Animals , Female , Folic Acid Deficiency/metabolism , Folic Acid Deficiency/physiopathology , Food, Fortified , Gene-Environment Interaction , Humans , Nutritive Value , Pregnancy , Recommended Dietary Allowances , Risk Factors
8.
Birth Defects Res A Clin Mol Teratol ; 106(12): 993-1007, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27704687

ABSTRACT

BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. CONCLUSION: The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc.


Subject(s)
Abnormalities, Multiple/epidemiology , Cerebrum/abnormalities , Face/abnormalities , Nose/abnormalities , Twins, Conjoined/pathology , Abnormalities, Multiple/pathology , Abnormalities, Multiple/physiopathology , Anencephaly/epidemiology , Anencephaly/pathology , Anencephaly/physiopathology , Argentina/epidemiology , Cleft Palate/epidemiology , Cleft Palate/pathology , Cleft Palate/physiopathology , Female , Heart Defects, Congenital/epidemiology , Heart Defects, Congenital/pathology , Heart Defects, Congenital/physiopathology , Hernia, Diaphragmatic/epidemiology , Hernia, Diaphragmatic/pathology , Hernia, Diaphragmatic/physiopathology , Humans , Male , Neural Tube Defects/epidemiology , Neural Tube Defects/pathology , Neural Tube Defects/physiopathology , Prevalence , Risk Factors , Twins, Conjoined/physiopathology
9.
Am J Med Genet C Semin Med Genet ; 163C(4): 333-56, 2013 Nov.
Article in English | MEDLINE | ID: mdl-24124024

ABSTRACT

Head morphogenesis is a complex process that is controlled by multiple signaling centers. The most common defects of cranial development are craniofacial defects, such as cleft lip and cleft palate, and neural tube defects, such as anencephaly and encephalocoele in humans. More than 400 genes that contribute to proper neural tube closure have been identified in experimental animals, but only very few causative gene mutations have been identified in humans, supporting the notion that environmental influences are critical. The intrauterine environment is influenced by maternal nutrition, and hence, maternal diet can modulate the risk for cranial and neural tube defects. This article reviews recent progress toward a better understanding of nutrients during pregnancy, with particular focus on mouse models for defective neural tube closure. At least four major patterns of nutrient responses are apparent, suggesting that multiple pathways are involved in the response, and likely in the underlying pathogenesis of the defects. Folic acid has been the most widely studied nutrient, and the diverse responses of the mouse models to folic acid supplementation indicate that folic acid is not universally beneficial, but that the effect is dependent on genetic configuration. If this is the case for other nutrients as well, efforts to prevent neural tube defects with nutritional supplementation may need to become more specifically targeted than previously appreciated. Mouse models are indispensable for a better understanding of nutrient-gene interactions in normal pregnancies, as well as in those affected by metabolic diseases, such as diabetes and obesity.


Subject(s)
Folic Acid/metabolism , Maternal Nutritional Physiological Phenomena , Morphogenesis , Neural Tube Defects/metabolism , Anencephaly/genetics , Anencephaly/metabolism , Anencephaly/physiopathology , Animals , Cleft Lip/genetics , Cleft Lip/metabolism , Cleft Lip/physiopathology , Cleft Palate/complications , Cleft Palate/genetics , Cleft Palate/mortality , Diabetes, Gestational/genetics , Diabetes, Gestational/metabolism , Diabetes, Gestational/physiopathology , Dietary Supplements , Disease Models, Animal , Female , Gene-Environment Interaction , Humans , Mice , Neural Tube Defects/physiopathology , Pregnancy
10.
J Reprod Med ; 56(5-6): 241-6, 2011.
Article in English | MEDLINE | ID: mdl-21682120

ABSTRACT

OBJECTIVE: To evaluate various fetal heart rate (FHR) parameters of anencephalic fetuses and to assess the effect of the fetal nervous system on FHR according to gestational age. STUDY DESIGN: The antepartum nonstress test was performed in 25 anencephalic fetuses. Each FHR parameter was analyzed using a computerized FHR analysis system for various gestational groups, and the results were compared with results from a normal control group (N = 25). RESULTS: The mean baseline FHR of anencephalic fetuses decreased with increasing gestational age, as in normal fetuses. FHR variability increased with increasing gestational age, as in normal fetuses. CONCLUSION: In anencephalic fetuses, baseline FHR and FHR variability changed significantly with gestational age. These results suggest that the autonomic nervous system is more likely to be preserved than the central nervous system in anencephalic fetuses in spite of malformed or insufficient central nervous system.


Subject(s)
Anencephaly/physiopathology , Gestational Age , Heart Rate, Fetal/physiology , Case-Control Studies , Female , Fetal Movement , Humans , Pregnancy
11.
Brain Dev ; 33(1): 86-9, 2011 Jan.
Article in English | MEDLINE | ID: mdl-20189331

ABSTRACT

Neurological findings in a three-year-old child with meroacrania provide new insights into how the nervous system develops and functions in the absence of superior levels of control from the time of origin. The girl is the first child of a non-consanguineous white Brazilian couple, born at term, weighing 2650 g and measuring 44 cm in length. Upon examination at 43 months, she had quadriplegia, global hypotonia with occasional body hypertonia in a decorticate posture, hyperreflexia, ankle clonus, and extensor plantar response. This case allowed us to verify that, in the absence of upper structures and subcortical nuclei, there are clear signs that suggest corticospinal primacy in motor functions without a substitute pathway. Sound orientation responses suggest the independence of the vestibular-acoustic-ocular system, and manifestations of responsiveness to the environment raise questions about consciousness.


Subject(s)
Anencephaly/pathology , Anencephaly/physiopathology , Child, Preschool , Consciousness , Female , Humans , Muscle Hypertonia , Posture , Pregnancy , Quadriplegia , Reflex, Abnormal
12.
Early Hum Dev ; 86(9): 569-72, 2010 Sep.
Article in English | MEDLINE | ID: mdl-20709473

ABSTRACT

BACKGROUND: To quantify changes in fetal heart rate (FHR) parameters after vibroacoustic stimulation (VAS) and to evaluate the usefulness of VAS testing (VAST) in anencephalic fetuses. Our findings may also help to clarify the route(s) of vibration and sound transmission during VAST. STUDY DESIGN AND SUBJECTS: We obtained the antepartum FHR tracings of 16 anencephalic fetuses, including both the nonstress test (NST) and VAST. Using a computerized monitoring system, HYFM, we determined all FHR parameters from data collected for 10 min before and 10 min after VAS, at successive gestational stages. RESULTS: We observed three false reactive responses at term. The false reactive rate for VAST (3/16) was higher than that for NST (1/16). No FHR parameters increased significantly after VAS except for the number of fetal movements (FM), which increased significantly in all gestational groups (25th-32nd and 33rd-40th weeks). CONCLUSIONS: These findings call attention to an increased probability of a false reactive response in VAST analysis, when the fetus is affected by a CNS disorder. Increased numbers of FM after VAS suggest that the vibratory pathway is more likely to elicit fetal response than the auditory pathway in this setting, and that the vibratory stimulation travels by subcortical rather than by cortical pathways.


Subject(s)
Anencephaly/physiopathology , Fetal Monitoring/methods , Fetus/physiopathology , Heart Rate, Fetal/physiology , Signal Processing, Computer-Assisted , Acoustic Stimulation , Humans , Vibration
13.
J Matern Fetal Neonatal Med ; 17(2): 165-8, 2005 Feb.
Article in English | MEDLINE | ID: mdl-16076628

ABSTRACT

Diagnosis of anencephaly during early pregnancy by ultrasound which is based on the demonstration of absent cranial vault and cerebral hemispheres, has been known for more than 25 years. Morphological records of abnormal and normal brain structure in anencephalic fetuses have been clearly understood. Nevertheless, there are still unknown facts about fetal behavior affected by anencephaly. Although abnormal motor behavior in anencephalic fetuses has been reported, detailed quantitative and qualitative study of the fetal behavior assessed by direct four-dimensional (4D) ultrasound does not exist. In the present case, we describe a comparison of fetal behavior between a fetus with anencephaly and a normal fetus at 19 weeks of pregnancy.


Subject(s)
Anencephaly/diagnostic imaging , Anencephaly/physiopathology , Fetal Movement/physiology , Adult , Female , Fetal Diseases/diagnostic imaging , Fetal Diseases/physiopathology , Humans , Motor Activity/physiology , Pregnancy , Ultrasonography, Prenatal
14.
J Med Ethics ; 31(1): 56-60, 2005 Jan.
Article in English | MEDLINE | ID: mdl-15634754

ABSTRACT

Ken Himma argues that a human being becomes a moral person at the commencement of brain activity. In response to Himma, the author offers (1) brief comments on Himma's project, (2) an alternative account of the human person that maintains that a human being is a human person by nature as long as it exists, and (3) a counterexample to Himma's position that shows it cannot account for the wrongness of the purposeful creation of anencephalic-like children. The author concludes with replies to two challenges to his position.


Subject(s)
Personhood , Abortion, Induced/ethics , Anencephaly/physiopathology , Beginning of Human Life/ethics , Fetal Development/physiology , Humans , Infant, Newborn , Moral Development , Philosophy, Medical , Self Concept , Value of Life
15.
Bol. Hosp. San Juan de Dios ; 50(4): 217-220, jul.-ago. 2003.
Article in Spanish | LILACS | ID: lil-395058

ABSTRACT

La anencefalia es una malformación del sistema nervioso, causado por la falla del cierre del neuroporo anterior durante la embriogénesis. Su incidencia es de 1 en 1.000 embarazos en Estados Unidos. Los recién nacidos con anencefalia generalmente sobreviven sólo pocas horas o días, y excepcionalmente se han descrito casos de sobrevida de algunas semanas. Existen numeroso estudios que sugieren la existencia de factores genéticos y ambientales en la génesis de este trastorno, por ejemplo, mutaciones en el gen que codifica la enzima metilentetrahidrofolato reductasa, elevados niveles plasmáticos de homocisteína y bajos de folato en madres de niños con defectos del tubo neural y factores ambientales diversos. La mayoria de los casos son diagnosticados mediante ultrasonografía precozmente durante el embarazo (antes de las 20 semanas). Se presenta un caso clínico de recién nacido con anencefalia, en el Hospital de Salamanca, que tuvo una sobrevida excepcionalmente prolongada y se revisa el tema


Subject(s)
Humans , Adult , Female , Pregnancy , Anencephaly/diagnosis , Anencephaly/epidemiology , Anencephaly/physiopathology , Anencephaly/mortality , Chile , Infant, Newborn , Life Expectancy , Prenatal Diagnosis , Central Nervous System/embryology
16.
Prog. obstet. ginecol. (Ed. impr.) ; 44(8): 333-339, ago. 2001. ilus
Article in Es | IBECS | ID: ibc-4550

ABSTRACT

Objetivo: Estudiamos el estado pupilar basal y la respuesta de la pupila fetal al Doppler color (DC) en casos con malformaciones del sistema nervioso antes de las 23 semanas.Material y métodos: Las pupilas de 12 fetos con alguna malformación del sistema nervioso fueron estudiadas mediante ultrasonidos entre las semanas 16 y 23 de gestación. Las áreas de las pupilas e iris en situación basal y posterior al estímulo DC fueron comparadas con los datos de normalidad previamente publicados.Resultados: La gran mayoría de los fetos tenían alguno de los parámetros analizados anormales, sobre todo en el tipo de respuesta al DC y la cuantificación de ésta. Habitualmente las malformaciones del sistema nervioso presentan una respuesta inversa a la esperada y/o responden de forma exagerada.Conclusión: Estos resultados permiten utilizar este tipo de test en el estudio fetal de alta resolución que realizamos antes de las 22 semanas. Este reflejo fetal puede indicarnos el estado sináptico de una de las vías nerviosas fetales y el tono refléxico fetal. (AU)


Subject(s)
Adult , Pregnancy , Female , Male , Humans , Nervous System/abnormalities , Fetus/physiology , Ultrasonography, Doppler, Color/methods , Ultrasonography, Prenatal/methods , Pupil/physiology , Iris/physiology , Iris/pathology , Iris , Anencephaly/diagnosis , Anencephaly/physiopathology , Reflex/physiology , Photogrammetry/methods , Blinking/physiology , Massage , Reflex, Pupillary/physiology , Hydrocephalus, Normal Pressure/diagnosis
17.
Front Med Biol Eng ; 10(4): 337-44, 2001.
Article in English | MEDLINE | ID: mdl-11334172

ABSTRACT

Human fetal heart rate (HR) variabilities were analyzed using the QIS-A, which we devised to determine a fractal dimension of non-stationary time series. Fifteen 10-min HR data of an anencephalic fetus at 23 weeks and 3 days of gestation and those of 10 normal fetuses at the same weeks of gestation were obtained by ultrasonic cardiography. The anencephalus preserved the spinal cord, medulla and partial anterior hypothalamus. The fractal scaling exponent alpha of the anencephalus was compared with that of each normal fetus by Student's t-test. In results, the scaling relationship in each case had a crossover pattern characterized by alpha(s) and alpha(l), which were slopes above and below a crossover point, respectively. Differences in mean alpha(s) and mean alpha(l) between the anencephalus and each normal fetus were significant (P < 0.01): mean alpha(s), 1.0 +/- 0.1 (+/-SD) (1/f fluctuation) and 1.6 +/- 0.2 (+/-SEM); mean alpha(l), 1.6 +/- 0.2 (+/-SD) and 1.4 +/- 0.1 (+/-SEM). There were six significant differences in mean crossover point between the anencephalus and each normal fetus: 13.8 +/- 5.7 s (+/-SD) and 15.3 +/- 5.6 s (+/-SEM). These results reveal the relationship between fractal structure of fetal HR variability and the developing central nervous system (CNS). In particular, the 1/f fluctuation of HR variability in an anencephalic fetus from the 1.25 to 13.8 s time scale might have a strong relation to the defect of the CNS.


Subject(s)
Anencephaly/embryology , Anencephaly/physiopathology , Echocardiography, Doppler/methods , Heart Rate, Fetal/physiology , Ultrasonography, Prenatal/methods , Algorithms , Female , Fractals , Gestational Age , Humans , Pregnancy , Reference Values
18.
Int J Dev Neurosci ; 17(8): 839-48, 1999 Dec.
Article in English | MEDLINE | ID: mdl-10593620

ABSTRACT

Functional state and creatine kinase (CK) activity in the amniotic fluid and blood of anencephalic fetuses was studied in the second trimester of pregnancy with the following pathomorphological investigation of the state of their CNS to reveal possible markers of development disorders. The extent of neurological disorders in newborn infants was retrospectively compared with data from functional studies of components of a biophysical profile (motor-cardiac reflex, heart rhythm oscillations, respiratory movements) and with CK activity in the amniotic fluid and blood of fetuses with hemolytic disease and fetuses of diabetic mothers and normal mothers in the third trimester of pregnancy. The results revealed informative indices of fetal CNS developmental disorders in the prenatal period that are of importance for predicting a prognosis of the extent of neurological disorders in newborn infants. These results will allow the establishment of criteria for evaluation of fetuses to reveal possible disorders in the formation of the CNS.


Subject(s)
Amniocentesis , Amniotic Fluid/enzymology , Anencephaly/diagnosis , Anencephaly/enzymology , Creatine Kinase/analysis , Anencephaly/physiopathology , Biomarkers , Creatine Kinase/blood , Feedback/physiology , Female , Heart Rate , Humans , Hyperglycemia/complications , Intellectual Disability/diagnosis , Intellectual Disability/enzymology , Intellectual Disability/physiopathology , Isoenzymes , Movement , Predictive Value of Tests , Pregnancy , Pregnancy Trimester, Second , Pregnancy Trimester, Third , Pregnancy in Diabetics/complications , Retrospective Studies
19.
Psychiatry Clin Neurosci ; 52(2): 173-4, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9628134

ABSTRACT

The diurnal change in baseline fetal heart rate (FHR) of four anencephalic fetuses at 20, 23, 24 and 30 weeks of gestation were examined. The mean baseline FHR in 00.00-06.00 h, 06.00-12.00 h, 12.00-18.00 h and 18.00-24.00 h were compared by one-factor ANOVA and Scheffe's test in each case. The diurnal variations in baseline FHR were recognized in all subjects (P < 0.01). In 3/4 subjects, the lowest values were at 00.00-06.00 h. The diurnal variation in baseline FHR might be caused by maternal factors because it was present even in the anencephalic fetuses that had no central nervous system having the oscillators of the circadian rhythm.


Subject(s)
Anencephaly/embryology , Circadian Rhythm/physiology , Heart Rate, Fetal/physiology , Anencephaly/physiopathology , Arousal/physiology , Autonomic Nervous System/physiology , Female , Fetal Monitoring , Gestational Age , Humans , Infant, Newborn , Pregnancy , Suprachiasmatic Nucleus/abnormalities , Suprachiasmatic Nucleus/physiopathology
20.
Acta Paediatr ; 86(4): 426-7, 1997 Apr.
Article in English | MEDLINE | ID: mdl-9174233

ABSTRACT

Oscillations of skin blood flow and heart rate can be synchronised using external rhythmic thermal stimulation in healthy adults and infants. We examined the effect of thermal stimulation on the cutaneous circulation and heart rate of an anencephalic neonate using cutaneous laser Doppler flowmetry and ECG monitoring. The results suggest that synchronisation of SBF and HR to thermal stimulation can also be induced in an anencephalic newborn.


Subject(s)
Anencephaly/physiopathology , Heart Rate/physiology , Hot Temperature , Skin/blood supply , Case-Control Studies , Female , Humans , Infant, Newborn , Periodicity , Peripheral Nervous System/physiology , Regional Blood Flow/physiology
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