Calcifying epithelial odontogenic tumours: Collaborative study of 32 cases and review of literature.

OBJECTIVES: To analyse the occurrence of calcifying epithelial odontogenic tumours (CEOT) based on biopsy records from different Brazilian geographic regions and to contrast the data with a review of the literature. MATERIALS AND METHODS: A 2-step study was conducted. Step 1 consisted of a collaborative study of biopsies obtained from 1953 to 2017 at six Brazilian oral and maxillofacial pathology centres. Evaluation of 86,268 biopsy records was performed. Demographic and histopathological diagnosis data were assessed. In Step 2, a review of the literature of case reports and cases series of CEOT identified across five electronic databases was conducted. RESULTS: In the collaborative study, 32 cases of CEOT were evaluated. This figure represented 0.03% of the oral and maxillofacial lesions and 1.7% of all odontogenic tumours across the centres. Women in the fourth decade of life were more affected. CEOT occurred more in the mandible than in the maxilla (ratio 1.9:1). The review of the literature showed that Asian individuals were more affected by this neoplasm. CONCLUSIONS: Useful knowledge on the epidemiology, treatment and follow-up of CEOT has been provided. Demographic data and clinical features of the cases presented in this collaborative study were quite similar to those of studies reported worldwide.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Although whole-exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM-referenced genes called "medical exome" (ME) constitute an alternative strategy to WES, but its efficiency is poorly known. In this study, we report the experience of 2 clinical genetic centers using ME for diagnosis of NDDs. We recruited 216 consecutive index patients with NDDs in 2 French genetic centers, corresponded to the daily practice of the units and included non-syndromic intellectual disability (NSID, n = 33), syndromic ID (NSID = 122), pediatric neurodegenerative disorders (n = 7) and autism spectrum disorder (ASD, n = 54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnosis yield was higher in patients with ID as the main diagnosis (32%) than in patients with ASD (3.7%). Our results suggest that the use of ME is a valuable strategy for patients with ID when WES cannot be used as a routine diagnosis tool.

Establishment of two forensic medicine OSCE stations on the subject of external post-mortem examination.

An improvement in quality of medical external post-mortem examinations among others can be achieved by more intensive training of medical students. Modern learning and teaching methods such as e-learning modules and SkillsLab stations should be used for this. The introduction of corresponding methods of assessment such as the OSCE procedure is necessary to test the success of learning. In Halle (Germany), two OSCE stations on the subject of external post-mortem examinations were introduced in 2016. The 'practical external post-mortem examination' station test skills and abilities students have learned during practical external post-mortem examination in small group classes on a simulation doll. At the 'death certificate' station, an original death certificate must be filled in, testing the knowledge, skills and abilities learned in the SkillsLab station and during e-learning. A total of 148 students took part in the test. At both stations, at least two thirds of the students (69.5 and 81.7%) were able to show good or very good test results. In addition to the strengths, a detailed evaluation of the test results showed that there were still deficits in terms of the corresponding courses (e.g. inspection of the neck region in the small group classes), which will have to be remedied in the future. When analysing the test concept and the test implementation, objectivity was nearly perfect. There was a satisfactory internal consistency and stability over 8 months. Ultimately, in addition to several strengths (such as good understanding and transparency of the checklists) the evaluation of the examiners also showed further potential areas for improvement (e.g. harmonisation of the degree of difficulty for the individual rotations) when designing the OSCE stations. Overall, it was possible to determine that the OSCE testing format is a suitable tool to test external post-mortem examination skills and that conclusions about improvements in teaching can also be drawn from this.

Early Consequences of Pectus Excavatum Surgery on Self-Esteem and General Quality of Life.

BACKGROUND: An early observation after chest wall correction is direct inspection from the PE patient of their "new" thorax. Changes in self-perception may give raise to other psychological adaptations. The aim of this study was to evaluate the early changes in the fields of self-esteem, body image and QoL. METHODS: Prospective observational longitudinal multicenter cohort study. Self-esteem, emotional limitations and general health were assessed using the Child Health Questionnaire (CHQ) in patients under 18 and the World Health Organization Quality of Life Questionnaire-bref (WHOQOL-bref) was used for body image, psychological domain and overall QoL in patients over 16 years of age. Measurements were taken before surgery (T1) and 6 weeks (T2), and 6 months thereafter (T3). RESULTS: Scores on post-operative self-esteem were significantly higher compared with scores pre-operatively (p < 0.007). Also body image, psychological domain and emotional limitations showed significant improvement, respectively p < 0.001, p < 0.001, and p < 0.016. Significant improvement in the first three components was mainly achieved in the first 6 weeks post-operative. In emotional limitation, however, the largest change was between 6 weeks and 6 months. Overall quality of life in the WHOQOL-bref and general health domain in the CHQ showed no significant improvement in relation to the pre-operative scores. CONCLUSION: Post-operative PE patients after Nuss procedure showed an improved body image, increased self-esteem and increased psychological resilience in the first 6 months, with the most marked change in the first 6 weeks. Also emotional limitations changed significantly over time. The changes were not large enough to influence general QoL or general health significantly.

[Legal medicine specialists within the framework of acute care : Analysis of legal medicine consultations in relation to the victims' statistics of the state office of criminal investigation in Saxony-Anhalt]. / Der Rechtsmediziner im Rahmen der Akutversorgung : Analyse rechtsmedizinischer Konsile in Relation zur Opferstatistik des Landeskriminalamtes Sachsen-Anhalt.

BACKGROUND: In acute medical care, there are patients who have been injured by the influence of others. The aim of this study was to analyze all cases which were presented to the Institute for Legal Medicine of the University Halle (Saale). The cases where analyzed in relation to the victims' statistics of the state office of criminal investigation in Saxony-Anhalt. MATERIALS AND METHODS: The consultations of the Institute for Legal Medicine Halle-Wittenberg for 2012-2015 were evaluated with regard to the age and gender distribution, the reasons for the consultation and time until the request for consultations. These cases were statistically compared to the victims' statistics of the state office of criminal investigation in Saxony-Anhalt 2014-2015. RESULTS: A total of 536 cases (55.6% male and 44.4% female patients) were evaluated. In all, 62.1% of patients were under 18 years of age; 43.5% of all consultations were requested by pediatric (surgery) clinics. The most common reasons for consultation were sexual child abuse or violence against children (50.7%). Compared to the victims' statistics, significantly more children were examined by legal medicine specialists than could have been expected (p < 0.001). In adult patients, the most common causes for consultation were acts of violence (20.4%) and domestic violence (10.1%). Among adults, significantly more women and fewer men were presented than expected (p = 0.001). CONCLUSION: There were only a small number of consultations of legal medicine specialists in relation to the victims' statistics. Most of them were children and women. The temporal latency between the act of violence and the consultations was one day and more. The latency and the renunciation of the consultation of the legal medicine specialists can lead to loss of evidence.

Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review.

BACKGROUND: Anorexia nervosa has one of the highest mortality rates of all mental illnesses. For those who survive, less than 70% fully recover, with many going on to develop a more severe and enduring phenotype. Research now suggests that genetics plays a role in the development and persistence of anorexia nervosa. Inclusion of participants with more severe and enduring illness in genetics studies of anorexia nervosa is critical. OBJECTIVE: The primary goal of this review was to assess the inclusion of participants meeting the criteria for the severe enduring anorexia nervosa phenotype in genetics research by (1) identifying the most widely used defining criteria for severe enduring anorexia nervosa and (2) performing a review of the genetics literature to assess the inclusion of participants meeting the identified criteria. METHODS: Searches of the genetics literature from 2012 to 2023 were performed in the PubMed, PsycINFO, and Web of Science databases. Publications were selected per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). The criteria used to define the severe and enduring anorexia nervosa phenotype were derived by how often they were used in the literature since 2017. The publications identified through the literature search were then assessed for inclusion of participants meeting these criteria. RESULTS: most prevalent criteria used to define severe enduring anorexia nervosa in the literature were an illness duration of ≥ 7 years, lack of positive response to at least two previous evidence-based treatments, a body mass index meeting the Diagnostic and Statistical Manual of Mental Disorders-5 for extreme anorexia nervosa, and an assessment of psychological and/or behavioral severity indicating a significant impact on quality of life. There was a lack of consistent identification and inclusion of those meeting the criteria for severe enduring anorexia nervosa in the genetics literature. DISCUSSION: This lack of consistent identification and inclusion of patients with severe enduring anorexia nervosa in genetics research has the potential to hamper the isolation of risk loci and the development of new, more effective treatment options for patients with anorexia nervosa.

Anorexia nervosa (AN) is a serious illness with a high death rate. Many of those with AN do not recover and have continuing severe psychological and physical symptoms that greatly impact their quality of life. Research has shown that genetics plays an important role, along with environment, in the development and persistence of AN. This review highlights the continued lack of consensus on defining criteria for severe and enduring AN in the literature and the continued focus on younger females with shorter illness durations in AN genetics research. Greater efforts are needed to include older participants with severe AN of longer duration in genetics research in hopes of developing more effective treatments for this underrepresented group.

Genetic factors associated with hidradenitis suppurativa, a literature review.

Background: Hidradenitis suppurativa (HS) is a chronic inflammatory disease characterized by deep-seated, painful lesions most frequently occurring in intertriginous areas of the skin. HS leads to poor quality of life in affected individuals and is difficult to diagnose and treat. Objective: Understanding the genetics associated with familial inheritance may lead to a better understanding of the pathogenesis of this debilitating disease. Methods: Articles published until March 9, 2023, were identified in PubMed using the following search terms: hidradenitis suppurativa and gene* or acne inversa and gene*. Results: The rate of monogenic mutations associated with HS is less than 7%, with the most common genetic mutations reported in sporadic and familial HS cases being in NCSTN and less frequently in PSENEN. Individuals with mutations in the gamma-secretase complex tended to have more severe HS and an early age of onset. Limitations: This study was limited to the case studies available in PubMed, the majority of which used targeted gene panels to detect genetic mutations. Conclusion: Approximately 30% of individuals diagnosed with HS report having a positive family history; however, very few studies demonstrate monogenic familial transmission of HS. The case studies of syndromic HS reported a variety of genetic mutations associated with HS, some of which were familial, while others were sporadic, suggesting that other pathways may be involved in the pathogenesis of HS and other potential mutations that have yet to be evaluated. More research is needed to understand the genetic mutations in HS.

No matrix effect in double-blind, placebo-controlled egg challenges in egg allergic children.

BACKGROUND: Diagnostic and accidental food allergic reactions may be modified by the matrix containing the allergenic food. Previous studies of double-blind, placebo-controlled food challenges (DBPCFCs) with peanut found an effect of the fat content of the challenge matrix on the severity of the challenge reactions. OBJECTIVE: The aim of this study was to examine whether the fat content of the food matrix is related to eliciting dose and reaction severity in DBPCFCs with heated hen's egg. METHODS: Sensitized egg allergic children (n = 59) undergoing DBPCFCs with egg as a routine diagnostic procedure in our tertiary care centre were evaluated retrospectively. Three different recipes were used for the food matrix: vanilla pudding, pancake and minced meat, containing 22.8%, 31.9% and 52.7% fat (weighted average), respectively. The eliciting dose (i.e. the highest cumulative dose to which the child reacted) was analyzed by Kaplan-Meier log-rank statistic and by Cox regression. Reaction severity was quantified by using an index (range 1-12) and was analysed by multiple linear regression analysis. RESULTS: The overall influence of type of recipe on eliciting dose was not significant (P = 0.12). The rate of response to minced meat (with the highest fat content) was not significantly different from pudding [HR = 0.61 (0.26-1.45, P = 0.26) or pancake (HR = 1.41 (0.50-3.99), P = 0.52] after adjustment for confounders. The type of recipe did not influence the severity of the challenge reaction. The severity of the challenge reaction for minced meat compared to pudding and pancake was 1.06 (0.52-2.16), P = 0.87 and 0.81 (0.32-2.01), P = 0.64, respectively, after correction for confounders. CONCLUSION AND CLINICAL RELEVANCE: In contrast to similar research with peanut, no significant influence of the fat content of the matrix was found on the eliciting dose or severity of the reaction in 59 DBPCFCs with hen's egg. Matrix fat content differences comparable to those reported here may not be an important co-determinant of reaction severity for all allergenic foods.

Where to prick the apple for skin testing?

Mal d 1 is not equally distributed over the apple. We aimed to examine the influence of the location of pricking in the apple on prick-to-prick skin prick test (PTP) results. PTPs were performed in autumn 2007 and spring 2008, before the birch pollen season, in 32 Dutch adults with symptoms of oral allergy to fresh apple, using apples harvested in autumn 2007. PTPs with fresh intact and unpeeled Pink Lady, Golden Delicious, Elise, Santana and Modi apples were performed using material obtained from approximately 2 cm near the stalk (top), and the middle region. All PTP responses were greater when performed with apple material near the stalk than from the middle region. In 2007, these differences were statistically significant for Pink Lady, Golden Delicious and Elise, and in 2008, for Pink Lady and Modi. When performing PTPs, the apple should be pricked near the stalk rather than in the middle.

[Legal consequences in cases of child abuse]. / Strafprozessuale Folgen von Kindesmisshandlung.

Medical child protection includes besides interdisciplinary diagnostics and treatment of physical and psychological symptoms also a discussion that looks at the ensuing legal consequences.This study analyses 21 criminally investigated cases of suspected child abuse from a 2 year study period and compares severity of injury to legal outcome.7 of those 21 criminal proceedings were already dropped by the prosecution and never went to trial. 4 of the 8 cases that led to a trial ended with a conviction. In all of the 4 cases that resulted in an acquittal the judges had been convinced that the child had been abused but found themselves unable to exactly identify the perpetrator. Our study's cases did not show a positive correlation between severity of injury and legal outcome.Diagnosing and treating children and minors within the context of medical child protection should always also include the ques-tion of possible legal consequences. The judicial process in cases of serious child abuse requires high medical expertise. Such expertise particularly includes the ability to determine the time of injury as exactly as possible and to provide precise written documentation of any medical findings. However, our study also shows that medical assessment is only one of many aspects in the legal response to child abuse.

Additional indications for the low allergenic properties of the apple cultivars Santana and Elise.

Patients with Oral Allergy Syndrome (OAS) to fresh apple may tolerate low allergenic apple cultivars. We aimed to investigate if the low allergenic properties of Elise and Santana, as previously identified in a Dutch population, could be generalised within North West Europe within the birch pollen region with regard to both the prevalence and degree of sensitization. Prick-to-prick tests (PTP) were performed in eighty-five adult patients with OAS to fresh apple in Great Britain, Switzerland and Northern Italy, before the birch pollen season, using the putatively low allergenic apple cultivars Elise, Santana, Granny Smith, Modi and Mcintosh, as well as the putatively high allergenic apple cultivars Golden Delicious and Kanzi. No significant differences in percentages of negative responses of PTPs were found between the three countries. Negative responses did not differ from negative responses to the different apple cultivars we previously found in 2006/2007 in the Netherlands. The size of the PTPs of all apple cultivars tested were correlated to the size of the skin prick tests with birch pollen. These results add to the indications for the low allergenic properties of the low allergenic apple cultivars Santana and Elise, as the number of negative responses were reproducible in three countries within the birch pollen region and were similar to previous results in the Netherlands. These results justify oral challenge studies with Elise and Santana within the birch pollen region, to establish the low allergenic properties for the benefit for apple allergic consumers for definite conclusions.

Identifying Congenital Heart Block in Primary Care.

Congenital heart block is a rare disease characterized by electrical conduction abnormalities of the heart in patients with both structural and without structural abnormalities. The most common cause of congenital heart block is autoimmune related, but other potential causes exist. Treatment for congenital heart block is determined by the severity of the disease and presenting symptoms. Primary care providers are in the optimal position to support patients and families. Although common causes and treatments of congenital heart block are known, much research is still to be done on the cause, optimal treatments, and potential long-term side effects.

Tryptase and histamine metabolites as diagnostic indicators of indolent systemic mastocytosis without skin lesions.

BACKGROUND: Risk indicators of indolent systemic mastocytosis (ISM) in adults with clinical suspicion of ISM without accompanying skin lesions [urticaria pigmentosa (UP)] are lacking. This study aimed at creating a decision tree using clinical characteristics, serum tryptase, and the urinary histamine metabolites methylimidazole acetic acid (MIMA) and methylhistamine (MH) to select patients for bone marrow investigations to diagnose ISM. METHODS: Retrospective data analysis of all adults, in whom bone marrow investigations were performed to diagnose ISM, was carried out. RESULTS: In total, 142 patients were included. SM was absent in all 44 patients with tryptase <10 µg/l, in 45 of 98 (46%) patients with tryptase ≥10 µg/l and in 18 of 52 patients (35%) with tryptase >20 µg/l. Above 43 µg/l, all patients had ISM (n = 11). Male gender, insect venom anaphylaxis as presenting symptom, tryptase, MIMA, and MH were independent ISM predictors. If tryptase was ≥10 µg/l, the diagnostic accuracy of MIMA and MH was high (areas under the ROC curve 0.92). CONCLUSIONS: In suspected patients without UP, the ISM risk is very low (if present at all) if tryptase is <10 µg/l. If tryptase is ≥10 µg/l, this risk depends on MIMA and MH, being low if these are normal, but high if these are elevated. Male gender and insect venom anaphylaxis are additional risk indicators. We recommend refraining from bone marrow examinations in suspected patients without UP if tryptase is <10 µg/l. Our results question the reliability of the minor diagnostic World Health Organization criterion of tryptase >20 µg/l.

[Investigations on the influence of different mouth and nose protection masks on the evidential breath alcohol measurement]. / Untersuchungen zum Einfluss verschiedener Mund-Nase-Schutzmasken auf die beweissichere Atemalkoholmessung.

On the occasion of a judicial expert opinion on the question of whether wearing a face mask can lead to a falsification of the breath alcohol value leading to detriment of the accused, an experimental series of tests was carried out under pandemic conditions on six healthy test subjects (four men, two women), who practiced low-risk recreational alcohol consumption. On each day of the study one specific mask type (surgical mask, textile mask, FFP2 mask) was examined. After ingestion of an individually calculated amount of alcohol and a 30-min absorption phase, 6 consecutive breath alcohol measurements were carried out at 30-min intervals, with one mask or no mask worn between measurements. Subsequently, pairs of values for periods with and without a mask were formed and the hourly breath alcohol elimination rates were calculated. As a result, the breath alcohol elimination rates with and without masks did not differ from each other. There were no error messages from the breathalyzer that can be attributed to the previous wearing of a mask.

Adolescent Eating Disorders: Early Identification and Management in Primary Care.

Eating disorders are complex, potentially life-threatening conditions characterized by disruptive eating behaviors that significantly impact physical and psychosocial functioning. The adolescent population is at an increased risk of developing eating disorders because of developmental changes affecting their perception. Eating disorders are associated with devastating medical complications and high mortality rates if left untreated. As the prevalence of eating disorders among adolescents continues to increase, it is important that clinicians are knowledgeable about early signs of disordered eating and facilitate timely evaluation and care coordination. Newly released clinical guidelines from the American Academy of Pediatrics are reviewed for early identification and management of eating disorders in children and adolescents. The epidemiology, risk factors, and medical complications for common eating disorders in primary care such as anorexia nervosa, bulimia nervosa, and binge eating disorder, are presented. An approach to screening for eating disorders, clinical assessment, and treatment options are outlined.

Validation of novel recipes for double-blind, placebo-controlled food challenges in children and adults.

BACKGROUND: In double-blind, placebo-controlled food challenges (DBPCFCs), the use of challenge materials in which blinding is validated is a prerequisite for obtaining true blinded conditions during the test procedure. Therefore, the aim of this study was to enlarge the available range of validated recipes for DBPCFCs to facilitate oral challenge tests in all age groups, including young children, while maximizing the top dose in an acceptable volume. METHODS: Recipes were developed and subsequently validated by a panel recruited by a matching sensory test. The best 30% of candidates were selected to participate in sensory testing using the paired comparison test. RESULTS: For young children, three recipes with cow's milk and one recipe with peanut could be validated which may be utilized in DBPCFCs. For children older than 4 years and adults, one recipe with egg, two with peanut, one with hazelnut, and one with cashew nut were validated for use in DBPCFCs. CONCLUSIONS: All recipes contained larger amounts of allergenic foods than previously validated. These recipes increase the range of validated recipes for use in DBPCFCs in adults and children.

Identification of low allergenic apple cultivars using skin prick tests and oral food challenges.

BACKGROUND: As oral allergy syndrome (OAS) symptoms to apple are frequent, we aimed to identify low allergenic apple cultivars and to validate the prick-to-prick skin prick test (SPT) as a suitable screening method. METHODS: Sixty-eight apple cultivars were tested by SPTs in 33 Dutch adults with OAS, before and during the birch pollen season in 2006 and 2007, respectively. Three cultivars yielding the largest number of negative SPTs (Elise, Santana and Pink Lady®) and one reference cultivar (Golden Delicious) were subsequently tested by single-blind oral food challenges (SBFC) just after picking in fall 2007 (fresh) and in spring 2008 (stored), outside the birch pollen season and preceded by SPTs. In spring, Santana was replaced by Modi®. RESULTS: In fresh apples, OAS symptoms of Elise, as measured by cumulative scores on a Visual Analogue Scale VASt, were significantly lower than those of Santana, Pink Lady and Golden Delicious (P = 0.021; 0.040 and 0.005, respectively). VASt scores of Santana were significantly lower than those of Golden Delicious (P = 0.049). In stored apples, VASt scores of Elise were significantly lower than that of Golden Delicious (P = 0.038). VASt scores of fresh apples did not differ significantly from stored apples, except in Golden Delicious (spring < fall: P = 0.021). The SPTs did not predict the severity of OAS. CONCLUSION: SPTs are not useful to assess the allergenicity of apple cultivars. By using SBFC, Elise and Santana were identified as low allergenic apple cultivars in patient with OAS. Our data on the effect of storage are inconclusive.

Petechial bleedings in sudden infant death.

The autopsy reports of 484 cases of deceased infants (201 females, 283 males) were analysed retrospectively for the existence of external and internal petechial bleedings (PET). The cases were divided into five groups on the basis of the cause of death (sudden infant death syndrome, sepsis, airway infections, asphyxia and trauma). Internal PET (pleural, pericardial, epicardial, thymic and peritoneal) were observed in each group with a lower prevalence in cases of trauma. The highest prevalence of external (cutaneous and conjunctival) PET was detected in cases of asphyxia (38% and 31%, respectively). However, even if with low prevalence, such bleedings were detected in every group. Factors like sex, age, cardiopulmonary resuscitation and its duration did not influence the presence of PET. The detection of external PET at autopsy is a suspicious finding that suggests asphyxia. Because of the possible natural origin of these bleedings, the medicolegal investigation has to be as complete as possible and has to include histology as mandatory.