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1.
Semin Cell Dev Biol ; 131: 78-92, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35282997

RESUMEN

Due to advancements in ultrasound techniques, the focus of antenatal ultrasound screening is moving towards the first trimester of pregnancy. The early first trimester however remains in part, a 'black box', due to the size of the developing embryo and the limitations of contemporary scanning techniques. Therefore there is a need for images of early anatomical developmental to improve our understanding of this area. By using new imaging techniques, we can not only obtain better images to further our knowledge of early embryonic development, but clear images of embryonic and fetal development can also be used in training for e.g. sonographers and fetal surgeons, or to educate parents expecting a child with a fetal anomaly. The aim of this review is to provide an overview of the past, present and future techniques used to capture images of the developing human embryo and fetus and provide the reader newest insights in upcoming and promising imaging techniques. The reader is taken from the earliest drawings of da Vinci, along the advancements in the fields of in utero ultrasound and MR imaging techniques towards high-resolution ex utero imaging using Micro-CT and ultra-high field MRI. Finally, a future perspective is given about the use of artificial intelligence in ultrasound and new potential imaging techniques such as synchrotron radiation-based CT to increase our knowledge regarding human development.


Asunto(s)
Inteligencia Artificial , Feto , Femenino , Feto/diagnóstico por imagen , Humanos , Recién Nacido , Imagen por Resonancia Magnética/métodos , Embarazo , Diagnóstico Prenatal/métodos
2.
Neuroradiology ; 2024 Jul 12.
Artículo en Inglés | MEDLINE | ID: mdl-38995394

RESUMEN

BACKGROUND: Visualizing (micro)vascular structures remains challenging for researchers and clinicians due to limitations in traditional radiological imaging methods. Exploring the role of vascular development in craniofacial malformations in experimental settings can enhance understanding of these processes, with the effectiveness of high-resolution imaging techniques being crucial for successful research in this field. Micro-CT imaging offers 3D microstructural insights, but requires contrast-enhancing staining agents (CESAs) for visualizing (micro)-vascular tissues, known as contrast-enhanced micro-CT (CECT). As effective contrast agents are crucial for optimal visualization, this review focuses on comparative studies investigating such agents for micro-vascular tissue imaging using micro-CT. Furthermore, we demonstrate the utilization of B-Lugol solution as a promising contrast agent for acquiring high-quality micro-CT images of (micro)vascular structures in human embryonic samples. METHOD: This scoping review followed Preferred Reporting Items for Systematic Reviews and Meta-analysis Protocols. PubMed database provided relevant articles, screened initially by title and abstract. Inclusion and exclusion criteria defined outcomes of interest. RESULTS: From an initial search, 273 records were identified, narrowed down to 9 articles after applying our criteria. Additionally, two articles were added through citation searching. This, a total of 11 articles were incorporated in this study. CONCLUSION: This micro-CT contrast agent review underscores the need for tailored choices based on research goals. Both Barium sulfate and Iodine-based agents showing excellent results, providing high resolution (micro) vascular content, especially in ex-vivo specimens. However, careful consideration of protocols and tissue characteristics remains imperative for optimizing the effectiveness of micro-CT imaging for the study of cranio-facial vascular development.

3.
Cochrane Database Syst Rev ; 5: CD014715, 2024 05 09.
Artículo en Inglés | MEDLINE | ID: mdl-38721874

RESUMEN

BACKGROUND: Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies. OBJECTIVES: To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation. SEARCH METHODS: We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies. SELECTION CRITERIA: Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem. DATA COLLECTION AND ANALYSIS: Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity. MAIN RESULTS: Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons. AUTHORS' CONCLUSIONS: A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.


Asunto(s)
Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Ultrasonografía Prenatal , Femenino , Humanos , Embarazo , Sesgo , Anomalías Congénitas/diagnóstico por imagen , Sensibilidad y Especificidad , Ultrasonografía Prenatal/estadística & datos numéricos
4.
Artículo en Inglés | MEDLINE | ID: mdl-38978342

RESUMEN

INTRODUCTION: The decision to terminate a pregnancy due to fetal anomalies can have a significant emotional impact, especially in second-trimester terminations. Previous studies on the psychological consequences of pregnancy termination have had limitations, and little is known about the outcomes for partners and the impact of fetal donation. Therefore, we aimed to investigate the psychological effects of second-trimester pregnancy termination and identify factors associated with outcomes in both women and men, including donation of fetal remains to science. MATERIAL AND METHODS: A longitudinal cohort study was conducted at the Amsterdam UMC in the Netherlands, involving women and partners who underwent termination at or before 23 weeks and 6 days of gestation. Questionnaires were administered at termination, 6 weeks, and 4 months after. We utilized validated questionnaires to assess psychological morbidity (grief, post-traumatic stress and postnatal depression and quality of life [QoL]), and factors that could potentially influence outcomes. RESULTS: Of 241 participants, women displayed more pronounced psychological distress than men, though both groups improved over time. Four months after termination, 27.4% of women and 9.1% of men showed signs of pathological grief. Scores indicative for postnatal depression occurred in 19.8% women and 4.1% of men. A prior psychiatric history was a consistent predictor of poorer outcomes. Fetal donation to the Dutch Fetal Biobank was associated with reduced likelihood of symptoms of complicated grief four months after termination. CONCLUSIONS: Second-trimester termination of pregnancy for fetal anomalies can lead to psychological morbidity, particularly in women. However, there is a notable improvement over time for both groups. Individuals with prior psychiatric history appear more vulnerable post-termination. Also, fetal donation to science did not have a negative impact on psychological well-being.

5.
Development ; 147(21)2020 11 05.
Artículo en Inglés | MEDLINE | ID: mdl-33033118

RESUMEN

Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene (RFX6) and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why individuals with MRS specifically lack pancreatic endocrine cells, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of the pancreas body and tail. From this foetus, we derived iPSCs and show that differentiation of these cells in vitro proceeds normally until generation of pancreatic endoderm, which is significantly reduced. We additionally generated an RFX6HA reporter allele by gene targeting in wild-type H9 cells to precisely define RFX6 expression and in parallel performed in situ hybridisation for RFX6 in the dorsal pancreatic bud of a Carnegie stage 14 human embryo. Both in vitro and in vivo, we find that RFX6 specifically labels a subset of PDX1-expressing pancreatic endoderm. In summary, RFX6 is essential for efficient differentiation of pancreatic endoderm, and its absence in individuals with MRS specifically impairs formation of endocrine cells of the pancreas head and tail.


Asunto(s)
Diferenciación Celular , Diabetes Mellitus/genética , Diabetes Mellitus/patología , Endodermo/embriología , Enfermedades de la Vesícula Biliar/genética , Enfermedades de la Vesícula Biliar/patología , Células Madre Pluripotentes Inducidas/patología , Atresia Intestinal/genética , Atresia Intestinal/patología , Mutación/genética , Páncreas/embriología , Factores de Transcripción del Factor Regulador X/genética , Alelos , Secuencia de Bases , Diferenciación Celular/genética , Cromatina/metabolismo , Consanguinidad , Diabetes Mellitus/diagnóstico por imagen , Embrión de Mamíferos/metabolismo , Desarrollo Embrionario , Familia , Femenino , Enfermedades de la Vesícula Biliar/diagnóstico por imagen , Genoma Humano , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Atresia Intestinal/diagnóstico por imagen , Masculino , Linaje , Transcripción Genética , Transcriptoma/genética , Microtomografía por Rayos X
6.
Pediatr Radiol ; 53(4): 632-639, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36169668

RESUMEN

Over the last few years, fetal postmortem microfocus computed tomography (micro-CT) imaging has increased in popularity for both diagnostic and research purposes. Micro-CT imaging could be a substitute for autopsy, particularly in very early gestation fetuses for whom autopsy can be technically challenging and is often unaccepted by parents. This article provides an overview of the latest research in fetal postmortem micro-CT imaging with a focus on diagnostic accuracy, endovascular staining approaches, placental studies and the reversibility of staining. It also discusses new methods that could prove helpful for micro-CT of larger fetuses. While more research is needed, contrast-enhanced micro-CT has the potential to become a suitable alternative to fetal autopsy. Further research using this novel imaging tool could yield wider applications, such as its practise in imaging rare museum specimens.


Asunto(s)
Feto , Placenta , Femenino , Embarazo , Humanos , Autopsia/métodos , Edad Gestacional , Placenta/diagnóstico por imagen , Feto/diagnóstico por imagen , Microtomografía por Rayos X/métodos , Imagen por Resonancia Magnética/métodos
7.
Cleft Palate Craniofac J ; : 10556656221149144, 2023 Jan 03.
Artículo en Inglés | MEDLINE | ID: mdl-36594216

RESUMEN

OBJECTIVE: Some studies have suggested that introducing a second-trimester anomaly scan (SAS) leads to increased rates of termination of pregnancy (TOP) in fetuses with orofacial clefts (OFCs). The aim of this study was to evaluate the impact of a nationwide introduction of SAS on the prevalence of live births with OFCs in the Netherlands. DESIGN: Retrospective cohort study. SETTING: Tertiary setting. POPULATION: Included in the study were all patients diagnosed with OFCs as recorded in the "Dutch Association for Cleft Palate Anomalies" database between 1997 and 2019. INTERVENTIONS: Patients were divided into three categories: cleft lip with or without alveolus (CL/A), cleft lip, alveolus and palate (CLAP) and cleft palate (CP) based on anatomical landmarks at the first consultation. MAIN OUTCOME MEASURES: Prevalence rates of OFCs before and after the nationwide introduction of the SAS on January 1, 2007 were compared. RESULTS: Overall, 1899 patients were diagnosed with CL/A, 2586 with CLAP and 2927 with CP. The prevalence of clefts before and after introduction of the SAS did not differ (P = 0.85). The prevalence of CL/A decreased (P = 0.04), and that of CLAP decreased (P = 0.01) and that of CP increased (P = 0.02). CONCLUSIONS: This study demonstrates a significant decrease in the prevalence of CL/A and CLAP after introduction of the SAS. However, due to an increase in CP, the prevalence of all patients born with OFCs has not changed in the Netherlands between 1997 and 2019.

8.
Paediatr Anaesth ; 32(6): 697-705, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35266610

RESUMEN

Neonatal surgery and concomitant anesthesia coincide with a timeframe of rapid brain development. The speed and complexity of early brain development superimposed on immature regulatory mechanisms that include incomplete cerebral autoregulation, insufficient free radical scavenging and an immature immune response puts the brain at risk. Brain injury may have long-term consequences for multiple functional domains including cognition, learning skills, and behavior. Neurodevelopmental follow-up studies have noted mild-to-moderate deficits in children who underwent major neonatal surgery and related anesthesia. The present review evaluates neonatal surgery against the background of neurobiological processes that unfold at a pace unparalleled by any other period of human brain development. First, a structured summary of early brain development is provided in order to establish theoretical groundwork. Next, literature on brain injury and neurodevelopmental outcome after neonatal surgery is discussed. Special attention is given to recent findings of structural brain damage reported after neonatal surgery. Notably, high-quality imaging data acquired before surgery are currently lacking. Third, mechanisms of injury are interrogated taking the perspective of early brain development into account. We propose a novel disease model that constitutes a triad of inflammation, vascular immaturity, and neurotoxicity of prolonged exposure to anesthetic drugs. With each of these components exacerbating the other, this amalgam incites the perfect storm, resulting in brain injury. When examining the brain, it seems intuitive to distinguish between neonates (i.e., <60 postconceptional weeks) and more mature infants, multiple and/or prolonged anesthesia exposure and single, short surgery. This review culminates in an outline of anesthetic considerations and future directions that we believe will help move the field forward.


Asunto(s)
Anestesia , Anestésicos , Lesiones Encefálicas , Síndromes de Neurotoxicidad , Anestesia/efectos adversos , Anestésicos/efectos adversos , Encéfalo , Niño , Humanos , Lactante , Recién Nacido
9.
Clin Anat ; 35(5): 666-672, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35445445

RESUMEN

To increase our understanding of the etiology of specific neurological disorders (e.g., Duane syndrome, glossoptosis in Pierre Robin sequence), proper knowledge of anatomy and embryology of cranial nerves is necessary. We investigated cranial nerve development, studied histological sections of human embryos, and quantitatively analyzed the 3D reconstructions. A total of 28 sectioned and histologically stained human embryos (Carnegie stage [CS] 10 to 23 [21-60 days of development]) were completely digitalized by manual annotation using Amira software. Two specimens per stage were analyzed. Moreover, quantitative volume measurements were performed to assess relative growth of the cranial nerves. A chronologic overview of the morphologic development of each of the 12 cranial nerves, from neural tube to target organ, was provided. Most cranial nerves start developing at CS 12 to 13 (26-32 days of development) and will reach their target organ in stage 17 to 18 (41-46 days). In comparison to the rest of the developing brain, a trend could be identified in which relative growth of the cranial nerves increases at early stages, peaks at CS 17 and slowly decreases afterwards. The development of cranial nerves in human embryos is presented in a comprehensive 3D fashion. An interactive 3D-PDF is provided to illuminate the development of the cranial nerves in human embryos for educational purposes. This is the first time that volume measurements of cranial nerves in the human embryonic period have been presented.


Asunto(s)
Nervios Craneales , Imagenología Tridimensional , Encéfalo , Nervios Craneales/anatomía & histología , Embrión de Mamíferos/anatomía & histología , Humanos , Imagenología Tridimensional/métodos , Programas Informáticos
10.
Reproduction ; 161(1): V1-V4, 2021 01.
Artículo en Inglés | MEDLINE | ID: mdl-33258460

RESUMEN

Summary: Although it is commonly accepted that fertilisation in humans occurs in the ampulla of the fallopian tube, the peritoneal cavity might represent an alternative fertilisation site. Studies substantiating both fertilisation sites were reviewed and new insights on the fertilisation site in humans are discussed, including their implications for reproductive medicine.


Asunto(s)
Fertilización , Genitales Femeninos/fisiología , Cavidad Peritoneal/fisiología , Femenino , Humanos , Masculino , Oocitos/fisiología , Embarazo , Espermatozoides/fisiología
11.
Prenat Diagn ; 41(13): 1685-1693, 2021 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34592002

RESUMEN

OBJECTIVES: In this era of non-invasive-prenatal testing (NIPT), when dating scans are usually performed around 10 weeks of gestation, an increased NT before the official established timeframe (CRL between 45 and 84 mm) may be encountered. Information on management of these pregnancies is limited. Therefore, we evaluated the relationship between an early increased NT and adverse pregnancy outcome. Secondary, we evaluated the rate of chromosomal anomalies that might have been missed in first trimester should solely NIPT be performed as first-tier test, and the rate of adverse pregnancy outcome if NT normalizes before 14 weeks. METHODS: We performed a retrospective cohort study that included all pregnancies between January 1, 2007 and June 1, 2020 in Amsterdam UMC locations AMC and VUmc. We included fetuses with a crown-rump length (CRL) < 45 mm (∼11 weeks) and a nuchal translucency (NT) measurement ≥2.5 mm. Fetuses referred with an early increased NT and a major fetal anomaly at the dating scan were excluded, as were cases of parents with a family history of monogenetic disease(s) or recognized carriers of a balanced translocation. RESULTS: We included 120 fetuses of which 66.7% (80/120) had an adverse pregnancy outcome. Congenital anomalies were present in 56.7% (68/120), 45.8% (55/120) had a chromosomal anomaly. The prevalence of congenital anomalies was 30.3% in fetuses with NT 2.5-3.4 mm compared to 66.7% with NT ≥ 3.5 mm (p < 0.001). 16.7% (20/120) had a chromosomal anomaly that might have been missed by conventional NIPT in first trimester. We found an adverse pregnancy outcome of 24% in the group with a normalized NT compared to 78.1% in the group with a persistently increased NT (p < 0.001). CONCLUSION: An early increased NT should make the sonographer alert. In this selected cohort, an early increased NT was associated with a high probability of having an adverse pregnancy outcome. Regardless of CRL, we deem that an early increased NT ≥ 3.5 mm warrants referral to a Fetal Medicine Unit for an extensive work-up. NT normalization seems favorable, but a prospective study should define the appropriate work-up for NT in the lower range (2.5-3.4 mm).


Asunto(s)
Edad Gestacional , Medida de Translucencia Nucal/clasificación , Derivación y Consulta/normas , Adulto , Estudios de Cohortes , Femenino , Humanos , Medida de Translucencia Nucal/estadística & datos numéricos , Embarazo , Resultado del Embarazo/epidemiología , Estudios Prospectivos , Derivación y Consulta/estadística & datos numéricos , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos
12.
Clin Anat ; 34(5): 668-672, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32986245

RESUMEN

INTRODUCTION: Congenital tracheal anomalies are associated with high morbidity and mortality. The etiology of congenital tracheal anomalies is not well understood, but often attributed to malformed tracheal cartilage. The development of tracheal cartilage has not been described in detail. In this study, we aimed to investigate the development pattern and timing of normal tracheal cartilage to better understand the etiology of tracheal anomalies. MATERIALS AND METHODS: The development of tracheal cartilage was examined by studying the trachea in histological sections of 14 healthy human embryos from the Carnegie collection. Two specimens for Carnegie Stages 17-23 (42-60 days of embryological development) were studied. RESULTS: At Carnegie Stages 17-19 (42-51 days), a continuous mesenchymal condensation was observed ventral to the tracheal lumen. At Stages 20 and 21 (51-54 days), this pre-tracheal mesenchyme showed sites of increased condensation indicative of future tracheal rings. Furthermore, growth centers were identified both proximally and distally in the trachea. Characteristic horseshoe shaped tracheal rings were apparent at Carnegie Stages 22 and 23 (54-60 days). CONCLUSIONS: In human embryos, tracheal rings arise from growth centers in the ventral mesenchyme at approximately 51-54 days of embryological development. The observation of proximal and distal growth centers suggests a centripetal growth gradient, potentially contributing to occurrence of complete tracheal ring deformity (CTRD). Although this study shows new insights on tracheal cartilage development, the exact origin of congenital tracheal defects has yet to be elucidated.


Asunto(s)
Cartílago/embriología , Tráquea/embriología , Humanos
13.
Cleft Palate Craniofac J ; 58(9): 1121-1127, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33267609

RESUMEN

OBJECTIVE: To analyze the incidence of submucous cleft palate (SMCP) in a large national database and raise awareness among referring providers: pediatricians, speech pathologists, and dentists to minimize delay in diagnosis. DESIGN: Retrospective cohort study. SETTING: Tertiary setting. PATIENTS: Patients were extracted from the "Dutch Association for Cleft and Craniofacial Anomalies" database. A total of 6916 patients were included from 1997 until 2018 and divided into 2 groups (ie, SMCP versus cleft palate [CP]). Patients born before 1997 and adopted patients were excluded. INTERVENTIONS: Clefts were classified as either hard of soft palatal involvement based on anatomical landmarks at first consultation. MAIN OUTCOME MEASURES: Primary outcomes were the patient characteristics in both groups (ie, gender, birth weight, gestational age, and additional anomalies). Secondary outcome was the time of diagnosis among subgroups. RESULTS: In total, 532 patients were diagnosed with SMCP (7.7%). Birth weight, gestational age, and additional anomalies did not differ between subgroups, but there were more males in the SMCP group (P < .001). The median age of diagnosis of the SMCP group was significantly higher than of the CP group (987 vs 27 days; P < .001). Over the course of 22 years, the time of diagnosis for SMCP did not decrease. CONCLUSION: Submucous cleft palate represents <10% of the Dutch cleft population and 19.4% of all CP. Time of diagnosis for SMCP is significantly longer when compared with time of diagnosis of CP, and this has not changed over the study period of 22 years.


Asunto(s)
Fisura del Paladar , Fisura del Paladar/epidemiología , Humanos , Incidencia , Masculino , Países Bajos/epidemiología , Estudios Retrospectivos
14.
Radiology ; 297(1): 32, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32779971
15.
J Anat ; 236(5): 862-882, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-31814126

RESUMEN

In classic anatomy teaching, the brachial plexus generally features as an enigmatic rote-learned structure, leaving the student with a feeling of complexity. The notion of complexity may increase in dissections, where plexuses significantly differing from the standard plexus model are readily found. This raises questions: what determines the existence and prevalence of variants and to what degree should they be considered anomalous? A model linking brachial plexus morphology and its variability to causative morphological parameters which would also standardize plexus description and teaching would be beneficial. The present study aims to provide such a model by analyzing the context of plexus development and applying this model in the analysis of plexus variability in anatomical specimens. Based on a thorough literature review, a generic developmental model was formulated and different factors of variability defined. In 56 plexuses, the proposed generic principles of plexus variability were found consistent with the variations encountered. Summarized, the modeled generic principles are as follows. Brachial plexus axon bundles grow out into an environment of chemical tracer paths in which constraints and obstacles are present: the geometry of the arm bud, cartilaginous bone precursors and vessels. The overall constancy of these factors generates a gross plexus outline, while the variability in these factors gives rise to typical plexus variations. The usefulness of the model derives from the fact that the variability of the main morphologically determining factors is not random but is the expression of the possibilities of the embryological substrate. Within the model, the major plexus morphological determinant is the segmental position of the subclavian artery, which is determined by the segment level of the intersegmental artery from which it develops. Normally, the subclavian artery develops from intersegmental artery i7. However, the subclavian artery can develop from inferior or superior segmental levels, from intersegmental artery i8 or i6, and possibly also from i9 or i5. Each of these arterial variants creates a typical, morphologically distinct, predictable plexus configuration. Superimposed on these basic plexus configurations, the underlying embryological substrate may develop further variability by integrating remnants of other intersegmental arteries into the arterial network. The resulting plexus configurations are further modified by local factors, e.g. the splitting of outgrowing axon bundles around vessels. A large split in the lateral cord around a large vein or veins crossing from lateral to medial, tangentially cranially over the subclavian artery was found in 54% of the 56 investigated BP and therefore might be added to plexus teaching. The distinct plexus morphologies associated with the subclavian artery segmental levels were further found associated with, among others, typical variations in the pectoral nerves and their ansas; these associations were also modeled. The presented models could allow brachial plexus rote learning to be replaced by a more insightful narrative of formative principles suitable for teaching. Clinically, improved understanding of the relationship between plexus variability and the local anatomical environment should be relevant to brachial plexus surgery and reconstruction.


Asunto(s)
Plexo Braquial/anatomía & histología , Modelos Anatómicos , Arteria Subclavia/anatomía & histología , Disección , Humanos
16.
Int J Legal Med ; 134(4): 1465-1473, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31912213

RESUMEN

PURPOSE: Fatal trauma on the neck occurs frequent in forensic cases and often results in fractures of the hyoid-larynx complex. The aim of the present study is to provide an overview of fractures in the hyoid-larynx complex that occur due to fatal trauma on the neck and can be observed by radiological evaluation. METHODS: Radiological images from a forensic radiological database created in -BLINDED- were used for analysis. Hyoid-larynx complexes were explanted in 284 individuals who accordingly to the forensic pathologist allegedly died from fatal trauma on the neck. These explants were imaged with conventional X-rays in eight directions and a CT scan. Radiological images were analyzed for fractures, dislocations, joints, and anatomical variations by a trained analyst and a radiologist. RESULTS: In 281/284 cases, the hyoid bone and, in 252/284 cases, the thyroid cartilage could be assessed. In 56 victims (20%), the hyoid bone was fractured, 55 times in the greater horn, 1 fracture in the body. The calcified superior horn of the thyroid showed a fracture in 101 victims (40%). The calcified cricoid cartilage was fractured in one case. Multiple fractures were found in 31/284 cases (11%). Joints between the greater horn and body of the hyoid were present in 74%. CONCLUSION: Trauma on the neck leads most frequently to fractures of the superior horn of the thyroid cartilage and second most to fractures in the greater horn of the hyoid bone. (Forensic) radiologists should be aware of uncommon fracture locations, anatomical variations, and dislocations in the hyoid-larynx complex.


Asunto(s)
Patologia Forense , Fracturas Óseas/diagnóstico por imagen , Hueso Hioides/diagnóstico por imagen , Hueso Hioides/lesiones , Laringe/diagnóstico por imagen , Cartílago Tiroides/diagnóstico por imagen , Cartílago Tiroides/lesiones , Autopsia , Femenino , Humanos , Masculino , Traumatismos del Cuello/mortalidad , Países Bajos/epidemiología , Estudios Retrospectivos
17.
Clin Neuropathol ; 39(5): 221-226, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32301695

RESUMEN

Massive vascular gas embolism is a feared and often lethal symptom of decompression illness, resulting from diving accidents. The aim of this case report was to correlate post-mortem computed tomography scan (PMCT) findings with autopsy in cases of massive vascular gas embolism. Two cases of fatal diving accidents were retrospectively selected from a forensic radiological pathological database. The PMCT results were initially shared with the forensic pathologist prior to autopsy, enabling a more accurate overall assessment. Both cases were in retrospect thoroughly studied to compare the PMCT findings with the autopsy results. In general, intra- and extra-vascular gas collections are easily detected on PMCT in all body regions. We focused on abundant intravascular gas collections, mainly in the large brain vessels. General autopsy findings are described in both cases, and in one case we elaborate on specific intracerebral changes found at autopsy. Both cases were diagnosed as pulmonary barotrauma with subsequent vascular gas embolisms. We conclude that PMCT excels in the detection of macroscopic gas collections in the body, whereas microscopic gas collections identified at autopsy aid in the differentiation between decompression sickness and pulmonary barotrauma followed by vascular gas embolism. The presented cases highlight the advantages of using both PMCT and autopsy in the post-mortem evaluation of fatal diving accidents.


Asunto(s)
Enfermedad de Descompresión/complicaciones , Enfermedad de Descompresión/diagnóstico por imagen , Buceo/efectos adversos , Embolia Aérea/diagnóstico por imagen , Embolia Aérea/etiología , Adulto , Autopsia , Enfermedad de Descompresión/patología , Embolia Aérea/patología , Femenino , Humanos , Masculino , Neuropatología , Tomografía Computarizada por Rayos X/métodos
18.
Eur Radiol ; 29(4): 1912-1921, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30276675

RESUMEN

OBJECTIVES: Fire deaths are challenging fatalities for forensic pathologists, as the main question of whether death was due to the fire or not needs to be answered. In this retrospective study, we assessed whether post-mortem computed tomography (PMCT) has an added value prior to a forensic autopsy of burned victims. METHODS: From 2008 to 2016, a PMCT was performed in 50 burned corpses prior to a complete forensic autopsy. In retrospect, all 50 PMCT scans were systematically assessed by a forensically experienced radiologist, masked from the autopsy reports. Subsequently, the PMCT findings were compared with the autopsy reports. RESULTS: Heat fractures, contractions and destruction of extremities, subcutaneous emphysema and post-mortem gas collections were easier to detect by PMCT compared to autopsy. Alterations by penetrating and blunt trauma and the presence of foreign bodies were easy to detect by PMCT as well by autopsy. PMCT was, however, not successful in detecting signs of vitality during the fire, detection of superficial thermal injuries and to answer the main question of the forensic autopsy, which is to investigate the cause of death. CONCLUSIONS: PMCT prior to autopsy is a valuable add-on in the post-mortem forensic investigation of burned victims for detection of hidden signs of trauma, gas collections and foreign bodies. However, since PMCT cannot answer the two main questions in forensic examination-determining the cause of death and detecting signs of vitality during the fire-it cannot replace an autopsy. KEY POINTS: • Post-mortem CT (PMCT) in burned victims shows hidden signs of trauma. • Foreign bodies and gas collections can easily be detected. • Cause of death and vitality signs cannot be assessed by PMCT.


Asunto(s)
Quemaduras/diagnóstico por imagen , Patologia Forense/métodos , Autopsia/métodos , Quemaduras/patología , Causas de Muerte , Femenino , Cuerpos Extraños/diagnóstico por imagen , Cuerpos Extraños/patología , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/patología , Gases , Humanos , Masculino , Países Bajos , Radiólogos , Estudios Retrospectivos , Tomografía Computarizada por Rayos X/métodos , Heridas no Penetrantes/diagnóstico por imagen , Heridas no Penetrantes/patología
19.
J Anat ; 233(2): 243-254, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29726018

RESUMEN

Congenital muscle diseases, such as myopathies or dystrophies, occur relatively frequently, with estimated incidences of up to 4.7 per 100 000 newborns. To diagnose congenital diseases in the early stages of pregnancy, and to interpret the results of increasingly advanced in utero imaging techniques, a profound knowledge of normal human morphological development of the locomotor system and the nervous system is necessary. Muscular development, however, is an often neglected topic or is only described in a general way in embryology textbooks and papers. To provide the required detailed and updated comprehensive picture of embryologic muscular anatomy, three-dimensional (3D) reconstructions were created based on serial histological sections of a human embryo at Carnegie stage 23 (8 weeks of development, crown-rump length of 23.8 mm), using Amira reconstruction software. Reconstructed muscles, tendons, bones and nerves were exported in a 3D-PDF file to permit interactive viewing. Almost all adult skeletal muscles of the trunk and limbs could be individually identified in their relative adult position. The pectoralis major muscle was divided in three separate muscle heads. The reconstructions showed remarkable highly developed extraocular, infrahyoid and suprahyoid muscles at this age but surprisingly also absence of the facial muscles that have been described to be present at this stage of development. The overall stage of muscle development suggests heterochrony of skeletal muscle development. Several individual muscle groups were found to be developed earlier and in more detail than described in current literature.


Asunto(s)
Embrión de Mamíferos/anatomía & histología , Músculos/embriología , Humanos , Imagenología Tridimensional
20.
Forensic Sci Med Pathol ; 14(1): 62-69, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29399730

RESUMEN

The purpose of this study was to describe radiological fracture patterns of the acetabulum sustained after fatal small aircraft aviation accidents, aiming at facilitating a better understanding of trauma mechanisms in a forensic setting. Postmortem conventional radiographs or CT scans of 29 victims of 20 small aircraft aviation accidents were analyzed for skeletal acetabular trauma. Among the 29 fatalities (27 males and 2 females, median age 55 years (range: 21-76 years)), 20 victims had pelvic fractures (69%), of which 19 victims (66%) had one or more acetabular fractures. Bilateral acetabular fractures occurred in 11 victims. When considering left and right acetabula in each victim as separate entities, 38 of the 58 acetabula included in this case series exhibited one or more fractures. Both the anterior and posterior acetabular columns were fractured in 28 acetabula. Acetabular fractures were frequently encountered in this series of 29 victims of small fatal aircraft accidents. Fractures of the acetabulum occur from ventrally directed impact (i.e. to the knee) or laterally directed impact (i.e. to the greater trochanter of the femur). Radiological descriptions of the fracture patterns can therefore aid in the forensic analysis of the mechanism of trauma in aviation accidents. Postmortem multi-slice CT scan images are preferrable in the assessment of acetabular fractures.


Asunto(s)
Accidentes de Aviación , Acetábulo/diagnóstico por imagen , Acetábulo/lesiones , Fracturas Óseas/diagnóstico por imagen , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto Joven
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