White Matter Lesions Are Not Related to β-Amyloid Deposition in an Autopsy-Based Study

Population-based studies have investigated the relation between β-amyloid levels in cerebrospinal fluid or plasma and white matter lesions (WMLs). However, these circulating levels of β-amyloid in cerebrospinal fluid or plasma may not reliably reflect the actual degree of amyloid present in the brain. Therefore, we investigated the relation between WMLs and β-amyloid plaques and amyloid angiopathy in brain tissue. WML on MRI or CT were rated in 28 nondemented patients whose neuroimaging was available prior to death. β-amyloid in plaques and arterioles were immunohistochemically stained and quantified in postmortem brain necropsies. WMLs were present in 43% of the total population. Both cortex and periventricular region showed no differences for β-amyloid deposition in either plaques or blood vessel walls in patients with WMLs compared to those without WMLs. Thus, our results indicate that there is no relation between the degree of WMLs and β-amyloid deposition in the brain

Characterizing the coalescence area of conjoined twins to elucidate congenital disorders in singletons

Shared anomalies, always located close to the area of coalescence and observable in virtually every type of conjoined twinning, are currently seen as separate anomalies caused by mostly unknown and seemingly unrelated pathways rather than being connected to the twinning mechanism itself. Therefore, most (case) reports about conjoined twins are mere descriptions of (external) dysmorphologies lacking reflections on the possible origin of their concomitant anomalies. As we will demonstrate in this article, shared anomalies are influenced, and in some cases solely and sequentially explained, by interaction aplasia and neo-axial orientation; two embryological mechanisms to which each set of conjoined twins is subjected and are responsible for their ultimate phenotypical fate. In this review, we consider how the ventral, lateral and caudal conjunction types and their intermediates determine the phenotypic presentation of the twins, including patterns of shared malformations and anomalies, which in themselves can be indistinguishable from those encountered in singleton cases. Hence, it can be hypothesized that certain anomalies in singletons originate in a fashion similar to that in conjoined twins

Conjoined twins and conjoined triplets: At the heart of the matter

Conjoined triplets are among the rarest of human malformations, as are asymmetric or parasitic conjoined twins. Based on a very modest corpus of recent literature, we applied the embryonic disk model of conjoined twinning to 10 previously reported cases involving asymmetric anatomical multiplications to determine whether they concerned conjoined twins or conjoined triplets. In spite of their phenotypic similarities, we diagnosed four of these cases as conjoined twins and three of them as conjoined triplets. In the remaining three cases, no definite diagnosis could be made, as essential information was lacking from the reports. We conclude that it is not necessarily the expected duplication or triplication of structures that points to the correct diagnosis in these cases, but the number and mutual position of the hearts they presented with. Considering their rarity we stress to thoroughly investigate and describe internal (dys)morphology in novel cases of (asymmetric) conjoined twins and triplets to further unravel their pathogenicity and come to the correct diagnoses

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies

The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Birth Defects Research 109:791-804, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.status: publishe

What do we need to know about anatomy in gynaecology?:An international validation study

Objective: International validation of the Dutch Delphi study about which anatomical structures should be taught to ensure safe and competent practice among general gynaecologists. Study design: Validation study with gynaecologists and trainees in gynaecology from academic, non-academic teaching and non-academic, non-teaching hospitals worldwide. The relevance of 123 items included in the Dutch Delphi study was scored on a Likert scale between 1 (not relevant) and 5 (highly relevant). Consensus was defined when ≥70 % of the panellist scored the item as relevant or very relevant and the average rating was ≥4. Results: A total of 192 gynaecologists and trainees from seven countries (Belgium, Germany, Norway, Oceania, Sweden, United Kingdom and United States) completed the questionnaire. Of the 123 structures, 72 (58.5%) were internationally relevant. When the 72 relevant structures from the international Delphi study were compared with the 86 relevant structures from the Dutch Delphi study, 70 (81.4%) structures matched. Conclusions: This study identified 70 anatomical structures that should be taught for safe and competent practice of general gynaecologists based on national and international validation. The results of our study identify the learning needs (i.e., the content) for an international anatomy curriculum. The development of the curriculum (i.e., the form) can be determined by each country and used to standardize and guide postgraduate training in gynaecology. This is an important step in the era of international teaching and training

What do we need to know about anatomy in gynaecology?: An international validation study

OBJECTIVE: International validation of the Dutch Delphi study about which anatomical structures should be taught to ensure safe and competent practice among general gynaecologists. STUDY DESIGN: Validation study with gynaecologists and trainees in gynaecology from academic, non-academic teaching and non-academic, non-teaching hospitals worldwide. The relevance of 123 items included in the Dutch Delphi study was scored on a Likert scale between 1 (not relevant) and 5 (highly relevant). Consensus was defined when ≥70 % of the panellist scored the item as relevant or very relevant and the average rating was ≥4. RESULTS: A total of 192 gynaecologists and trainees from seven countries (Belgium, Germany, Norway, Oceania, Sweden, United Kingdom and United States) completed the questionnaire. Of the 123 structures, 72 (58.5%) were internationally relevant. When the 72 relevant structures from the international Delphi study were compared with the 86 relevant structures from the Dutch Delphi study, 70 (81.4%) structures matched. CONCLUSIONS: This study identified 70 anatomical structures that should be taught for safe and competent practice of general gynaecologists based on national and international validation. The results of our study identify the learning needs (i.e., the content) for an international anatomy curriculum. The development of the curriculum (i.e., the form) can be determined by each country and used to standardize and guide postgraduate training in gynaecology. This is an important step in the era of international teaching and training

What do we need to know about anatomy in gynaecology:A Delphi consensus study

Objective: Determination of the anatomical structures that should be taught to ensure safe and competent practice among general gynaecologists. Study Design: A two-round Delphi survey, face-to-face meeting in focus groups and an individual interview. Participants were medical doctors and trainees from gynaecology, surgery, urology and radiology from academic, non-academic teaching and non-academic, non-teaching hospitals in the Netherlands. Relevant structures were collected from gynaecology surgery atlas based on most common gynaecological surgeries and diseases. These structures were supplemented and critically viewed in focus groups followed by a Delphi survey. In the Delphi survey gynaecologist and trainee's gynaecology from all over the Netherlands scored the items on a Likert scale between 1 (not relevant) and 5 (highly relevant). Consensus was defined when ≥ 70 % of the panellist scored the item as relevant or very relevant and the average rating was ≥ 4. Main outcome was clinically relevant anatomical structures. Results: Consensus on 86 clinically relevant anatomical structures divided by nine categories. Conclusions: This study identified a core list of anatomical structures that are relevant to the safe and competent practice of general gynaecologists and that can be used to guide gynaecology postgraduate education. This is the first step in a much wider and complex process of becoming a competent gynaecologist

What do we need to know about anatomy in gynaecology:A Delphi consensus study

Objective: Determination of the anatomical structures that should be taught to ensure safe and competent practice among general gynaecologists. Study Design: A two-round Delphi survey, face-to-face meeting in focus groups and an individual interview. Participants were medical doctors and trainees from gynaecology, surgery, urology and radiology from academic, non-academic teaching and non-academic, non-teaching hospitals in the Netherlands. Relevant structures were collected from gynaecology surgery atlas based on most common gynaecological surgeries and diseases. These structures were supplemented and critically viewed in focus groups followed by a Delphi survey. In the Delphi survey gynaecologist and trainee's gynaecology from all over the Netherlands scored the items on a Likert scale between 1 (not relevant) and 5 (highly relevant). Consensus was defined when ≥ 70 % of the panellist scored the item as relevant or very relevant and the average rating was ≥ 4. Main outcome was clinically relevant anatomical structures. Results: Consensus on 86 clinically relevant anatomical structures divided by nine categories. Conclusions: This study identified a core list of anatomical structures that are relevant to the safe and competent practice of general gynaecologists and that can be used to guide gynaecology postgraduate education. This is the first step in a much wider and complex process of becoming a competent gynaecologist