[Self-sense and experiences of physical activity in breast cancer survivors: Qualitative evidence synthesis]. / Significados y experiencias de actividad física en mujeres sobrevivientes de cáncer de mama: síntesis cualitativa.

Breast cancer has a high incidence rate and a negative impact on women's lives. The practice of physical activity (PA) has shown strong evidence in controlling the side effects associated with the disease and its treatment. However, having an active lifestyle is influenced by socio-health inequities. The objective was to analyze the categories related to the meanings and perceived experiences with PA in breast cancer survivors (BCS). Protocol https://osf.io/7fwbs/. Articles describing the meanings of PA in BCS published after 2010 were included. Fourteen articles were analyzed using line-by-line coding. The emerging categories were: 1)PA as a strategy to re-signify and empower the body. 2)Cancer means a change in PA trajectories. 3)PA is a tool for a healthy and functional body in everyday life.

Fish oil supplementation in obese rats ameliorates metabolic syndrome response.

Accumulation of visceral adipose tissue is associated with metabolic syndrome (MS), insulin resistance, and dyslipidemia. Here we examined several morphometric and biochemical parameters linked to MS in a rodent litter size reduction model, and how a 30-day fish oil (FO) supplementation affected these parameters. On day 3 post-birth, pups were divided into groups of ten or three. On day 22, rats were split into control (C) and small litter (SL) until 60 days old. Then, after metabolic disturbance and obesity were confirmed, FO supplementation started for 30 days and the new groups were named control (C), FO supplemented (FO), obese (Ob), and obese FO supplemented (ObFO). Comparison was performed by Student t-test or 2-way ANOVA followed by Tukey post hoc test. At the end of the 60-day period, SL rats were hyperphagic, obese, hypoinsulinemic, normoglycemic, and had high visceral fat depot and high interleukin (IL)-6 plasma concentration. Obese rats at 90 days of age were fatter, hyperphagic, hyperglycemic, hypertriacylgliceromic, hipoinsulinemic, with low innate immune response. IL-6 production ex vivo was higher, but in plasma it was not different from the control group. FO supplementation brought all biochemical changes to normal values, normalized food intake, and reduced body weight and fat mass in obese rats. The innate immune response was improved but still not as efficient as in lean animals. Our results suggested that as soon MS appears, FO supplementation must be used to ameliorate the morpho- and biochemical effects caused by MS and improve the innate immune response.

Can Implementing New Services Organization Models to Better Meet the Needs of Young People Bring About Practice Changes? Analysis of an Experiment in Québec.

The research question addressed in this article is: Can implementing new services organization models to better meet the needs of young people bring about practice changes? More precisely, we examine the effects of a new model called Aire Ouverte (AO) which is implemented gradually across Quebec since 2019. This new model involves public sector and community organizations. To grasp practices' change, we use cultural historical activity theory (CHAT) and employ a qualitative approach. Beyond a precise description of work activities, we gained an inside view of how the actors involved represented their practice and context. Our results show that practice changes seen by actors are in line with the object of the intervention, that is, responding rapidly to the expressed needs of young people. The development of new tools, flexible functioning, strengthening of interprofessional and intersectoral collaboration, involvement of young people in decision-making, all should contribute to improving response to their needs. This being said, a critical look at practice changes reveals a challenge in aligning the design and objective of AO with the needs of some young people. We noted also a poor alignment of effective collaborative practices between levels of care and the practices sought from intersectoral collaboration.

Operational characteristics of ultrasound in the diagnosis of Sjögren's syndrome.

BACKGROUND AND OBJECTIVE: To determine the operational characteristics of salivary gland ultrasound (SGU) in the diagnosis of Sjögren's syndrome (SS) in a population of colombian patients with dry symptoms. MATERIALS AND METHODS: Study of diagnostic tests in patients with dry symptoms who consecutively attended the rheumatology consultation (2018-2020). Sociodemographic and clinical data were obtained through a survey, paraclinical and ophthalmological tests, minor salivary gland biopsy, unstimulated salivary flow and SGU (score 0-6 based on De Vita) were done. Sensitivity, specificity, positive (PPV) and negative (NPV) predictive values (Stata 15®) were calculated. The receiver operating characteristics (ROC) curve was developed. RESULTS: 102 patients were included (34 SS and 68 non-SS), mean age 55.69 (±11.93) years, 94% women. Positive ultrasound (score of 2 or more) was more frequent in the SS group, (70.6% vs. 22.1%, P<0.0001). The sensitivity was the same for grade 2 and 3 (70.59%), with a higher specificity (89.71%) for grade 3 (PPV 77.42% NPV 85.92). The ROC curve from the sum of the glands by means of ultrasound was better than those of the independent glands. The ROC curve of the ultrasound presented a greater area under the curve (0.72 [0.61-0.82]) than that of the histological analysis (focus score) (0.68 [0.59-0.78]), P=0.0252. CONCLUSION: Salivary gland ultrasound is a useful and reliable method for the classification of SS. Its use could be considered in the future within the SS classification criteria.

Genitourinary symptoms and sexual function in women with primary ovarian insufficiency.

OBJECTIVE: There are limited studies on urogenital symptoms in women who experience menopause before the age of 40 years due to primary ovarian insufficiency (POI) or bilateral oophorectomy (surgical POI). This study aimed to compare the urogenital symptoms, including sexuality, of women with POI to those without the condition. METHODS: This cross-sectional study conducted was in seven Latin American countries, in which postmenopausal women (with POI and non-POI) were surveyed with a general questionnaire, the Menopause Rating Scale (MRS) and the six-item Female Sexual Function Index (FSFI-6). The association of premature menopause with more urogenital symptoms and lower sexual function was evaluated with logistic regression analysis. RESULTS: Women with POI experience more urogenital symptoms (MRS urogenital score: 3.54 ± 3.16 vs. 3.15 ± 2.89, p < 0.05) and have lower sexual function (total FSFI-6 score: 13.71 ± 7.55 vs. 14.77 ± 7.57 p < 0.05) than women who experience menopause at a normal age range. There were no significant differences in symptoms when comparing women based on the type of POI (idiopathic or surgical). After adjusting for covariates, our logistic regression model determined that POI is associated with more urogenital symptoms (odds ratio [OR]: 1.38, 95% confidence interval [CI] 1.06-1.80) and lower sexual function (OR: 1.67, 95% CI 1.25-2.25). CONCLUSION: POI, whether idiopathic or secondary to bilateral oophorectomy, is associated with symptoms that affect vaginal and sexual health.

The effects of short-term, progressive exercise training on disease activity in smouldering multiple myeloma and monoclonal gammopathy of undetermined significance: a single-arm pilot study.

BACKGROUND: High levels of physical activity are associated with reduced risk of the blood cancer multiple myeloma (MM). MM is preceded by the asymptomatic stages of monoclonal gammopathy of undetermined significance (MGUS) and smouldering multiple myeloma (SMM) which are clinically managed by watchful waiting. A case study (N = 1) of a former elite athlete aged 44 years previously indicated that a multi-modal exercise programme reversed SMM disease activity. To build from this prior case study, the present pilot study firstly examined if short-term exercise training was feasible and safe for a group of MGUS and SMM patients, and secondly investigated the effects on MGUS/SMM disease activity. METHODS: In this single-arm pilot study, N = 20 participants diagnosed with MGUS or SMM were allocated to receive a 16-week progressive exercise programme. Primary outcome measures were feasibility and safety. Secondary outcomes were pre- to post-exercise training changes to blood biomarkers of MGUS and SMM disease activity- monoclonal (M)-protein and free light chains (FLC)- plus cardiorespiratory and functional fitness, body composition, quality of life, blood immunophenotype, and blood biomarkers of inflammation. RESULTS: Fifteen (3 MGUS and 12 SMM) participants completed the exercise programme. Adherence was 91 ± 11%. Compliance was 75 ± 25% overall, with a notable decline in compliance at intensities > 70% V̇O2PEAK. There were no serious adverse events. There were no changes to M-protein (0.0 ± 1.0 g/L, P =.903), involved FLC (+ 1.8 ± 16.8 mg/L, P =.839), or FLC difference (+ 0.2 ± 15.6 mg/L, P =.946) from pre- to post-exercise training. There were pre- to post-exercise training improvements to diastolic blood pressure (- 3 ± 5 mmHg, P =.033), sit-to-stand test performance (+ 5 ± 5 repetitions, P =.002), and energy/fatigue scores (+ 10 ± 15%, P =.026). Other secondary outcomes were unchanged. CONCLUSIONS: A 16-week progressive exercise programme was feasible and safe, but did not reverse MGUS/SMM disease activity, contrasting a prior case study showing that five years of exercise training reversed SMM in a 44-year-old former athlete. Longer exercise interventions should be explored in a group of MGUS/SMM patients, with measurements of disease biomarkers, along with rates of disease progression (i.e., MGUS/SMM to MM). REGISTRATION: https://www.isrctn.com/ISRCTN65527208 (14/05/2018).

Applicability of the Barcelona scale to assess the quality of cleanliness of mucosa at esophagogastroduodenoscopy.

BACKGROUND AND OBJECTIVES: There are few scales with prospective validation for the assessment of the upper gastrointestinal mucosal cleanliness during an esophagogastroduodenoscopy (EGD). The aim of this study was to develop a valid and reproducible cleanliness scale for use during an EGD. METHODS: We developed a cleanliness scale (Barcelona scale) with a score (0-2 points) of five segments of the upper gastrointestinal tract with thorough cleaning techniques (esophagus, fundus, body, antrum, and duodenum). First, 125 photos (25 of each area) were assessed, and a score was assigned to each image by consensus among 7 experts endoscopists. Subsequently, 100 of the 125 images were selected and the inter- and intra-observer variability of 15 previously trained endoscopists was evaluated using the same images at two different times. RESULTS: In total, 1500 assessments were performed. In 1336/1500 observations (89%) there was agreement with the consensus score, with a mean kappa value of 0.83 (0.45-0.96). In the second evaluation, in 1330/1500 observations (89%) there was agreement with the consensus score, with a mean kappa value of 0.82 (0.45-0.93). The intra-observer variability was 0.89 (0.76-0.99). CONCLUSIONS: The Barcelona cleanliness scale is a valid measure and reproducible with minimal training. Its application in clinical practice is a significant step to standardize the quality of the EGD.

Management of incidental durotomies in an integrated Orthopaedic and Neurosurgical Spinal Unit.

Introduction: Incidental durotomy (ID) is an intraoperative event associated to prolonged bed rest and hospital stay, antibiotic use, higher patient dissatisfaction, and leg pain among other complications of its postoperative course. Several repair techniques and postsurgical care have been proposed for its management. This study was designed to develop an agreed protocol in cases of ID among Orthopaedic Surgeons (OS) and Neurosurgeons (NS) integrated into a Spinal Surgery Unit. Research question: Incidental durotomies management protocol. Materials and methods: From 997 eligible cases operated in Hospital del Mar (Barcelona, Spain) from April 2018 to March 2022, demographic, clinical, surgical and postoperative data was collected for statistical analysis from the morbidity and mortality database, with 79 identified IDs. Redo procedures were significantly associated to OS, and cervical and anterior/lateral approaches to NS, both groups were not comparable. Results: ID occurred in 7.9% of cases, more frequently after the lockdown (p=0.03), in females (p=0.04), during posterior approaches (p=0.003), and less frequently in the cervical spine (p=0.009). IDs were linked to postoperative infections (p< 0.001) and nerve root damage (p< 0.001). Patients without ID evolved more satisfactorily during the postoperative period (p=0.002), and those with CSF leak (20/79) spent on bed rest more than twice the time as those without (p<0.001). Multivariable logistic regression showed strong association between posterior approaches and ID, between complicated postoperative courses and ID. Discussion and conclusions: ID is linked to an adverse postoperative recovery, and it should be primarily repaired under microscope, with early mobilization of patients after surgery.

Cost-effectiveness of somatrogon in the Spanish pediatric population with growth hormone deficiency.

OBJECTIVE: To analyze the cost-effectiveness of weekly somatrogon compared to daily growth hormones (GH-d) in the pediatric population of Spain with growth hormone deficiency (GHD). METHODS: Markov model with two states (patients with or without GH-d or somatrogon treatment) in prepubertal children (3 to 11 years and 3 to 12 years in girls and boys, respectively) with GHD in isolation or as part of multiple pituitary hormone deficiency and without previous treatment, from the perspective of the National Health System. The simulation of the economic model ends at the age of 18. The costs of hormones and monitoring were obtained from Spanish sources. The utilities were obtained from the literature. Spanish clinical experts validated the assumptions of the model. RESULTS: In the deterministic analysis, somatrogon would be cost-effective, compared to GH-d, with a cost per QALY (quality-adjusted life year) gained of €19,259 and a clinically relevant QALY gain (0.336). This result was confirmed in deterministic sensitivity analyses. According to the probabilistic analysis, somatrogon would be the dominant treatment, with a 61% probability of a willingness to pay of €25,000 per QALY gained. CONCLUSION: Compared to GH-d, somatrogon is cost-effective in the Spanish pediatric population with GHD.

Intrinsic capacity and risk of death: Focus on the impact of using different diagnostic criteria for the nutritional domain.

OBJECTIVE: We aimed to estimate the ability of intrinsic capacity (IC) to predict death in community-dwelling older people using different diagnostic criteria to define the nutritional domain. METHODS: Participants from the Belgian SarcoPhAge cohort were followed from 2013 to the present. Four IC domains were assessed at baseline (data on the sensorial domain were not collected), and considered unsatisfactory below some specific thresholds. The nutritional domain was considered unsatisfactory if baseline malnutrition was present, defined by: 1) MNA-SF ≤11 points; 2) seven versions of the GLIM criteria, varying by the technique used to identify a reduced muscle mass; or 3) the combination of MNA-SF ≤11 points + GLIM criteria. The association between baseline unsatisfactory IC and 9-year mortality was calculated using the odds ratio (OR) adjusted for cofounders. RESULTS: Among the 534 participants (73.5 ± 6.2 years old; 60.3 % women at baseline), 157 (29.4 %) were dead after 9.3 ± 0.3 years of follow-up. Patients with baseline unsatisfactory IC in the locomotor domain (adjusted OR = 2.31 [95%CI 1.38-3.86]) or psychological domain (adjusted OR = 1.78 [1.12-2.83]) were at higher mortality risk. Regarding malnutrition, unsatisfactory IC in the nutrition domain was strongly associated with a higher mortality risk, whatever the criteria used to identify a reduced muscle mass. The highest association with mortality was found in participants with a baseline unsatisfactory nutritional domain defined by the combination of MNA-SF + GLIM criteria (adjusted OR = 3.27 [95%CI 1.72-6.23]). CONCLUSIONS: Presenting any unsatisfactory IC at baseline was associated with a higher 9-year mortality risk in community-dwelling older people. The sequential incorporation of MNA-SF and GLIM criteria as the IC nutritional domain would be helpful to guide public health actions towards healthy ageing.

The PHH-1V HIPRA vaccine: a new tool in the vaccination strategy against COVID-19.

OBJECTIVE: Vaccination against SARS-CoV-2 is essential to mitigate the personal, social and global impact of the coronavirus disease (COVID-19) as we move from a pandemic to an endemic phase. Vaccines are now required that offer broad, long-lasting immunological protection from infection in addition to protection from severe illness and hospitalisation. Here we present a review of the evidence base for a new COVID-19 vaccine, PHH-1V (Bimervax®; HIPRA HUMAN HEALTH S.L.U), and the results of an expert consensus. METHODS: The expert committee consisted of Spanish experts in medicine, family medicine, paediatrics, immunology, microbiology, nursing, and veterinary medicine. Consensus was achieved using a 4-phase process consisting of a face-to-face meeting during which the scientific evidence base was reviewed, an online questionnaire to elicit opinions on the value of PHH-1V, a second face-to-face update meeting to discuss the evolution of the epidemiological situation, vaccine programmes and the scientific evidence for PHH-1V and a final face-to-face meeting at which consensus was achieved. RESULTS: The experts agreed that PHH-1V constitutes a valuable novel vaccine for the development of vaccination programmes aimed towards protecting the population from SARS-CoV-2 infection and disease. Consensus was based on evidence of broad-spectrum efficacy against established and emerging SARS-CoV-2 variants, a potent immunological response, and a good safety profile. The physicochemical properties of the PHH-1V formulation facilitate handling and storage appropriate for global uptake. CONCLUSIONS: The physicochemical properties, formulation, immunogenicity and low reactogenic profile of PHH-1V confirm the appropriateness of this new COVID-19 vaccine.

Adsorption of azithromycin in agricultural soils of the Bogotá savanna, Colombia.

Azithromycin is one of the most widely used macrolide antibiotics in medical treatment. However, there is little information on studies of the ecotoxicity, persistence and mobility of this type of compounds in the environment, although their presence in surfaces and wastewater has already been detected (Hernández et al., 2015). Based on this approach, the present research performs an analysis of the behavior of the adsorption process of azithromycin in soils of different textural classes, with the intention of establishing a first approach to assess the destination and transport of such substances in the biosphere. From the results of the evaluation of the conditions of adsorption of azithromycin, it is established that the Langmuir model has a better fit for clay soils with correlation coefficients R2 between 0.998 and 0.961. In contrast, the Freundlich model fits the soil with higher sand fraction with a higher correlation, R2 of 0.9892. Finally, based on a correlation analysis between the clay content, the percentage of organic matter and the adsorption coefficient K, it was evident that the adsorption of azithromycin is mainly related to the inorganic fraction of the soil.

Comprensión del valor de posición: equivalencia numérica y composición aditiva como facilitadores en la escritura de numerales / Understanding Place Value: Numerical Equivalence and Additive Composition as Predictors for Writing Numerals / Compreendendo o valor posicional: equivalência numérica e composição aditiva como facilitadores na escrita de numerais

El valor de posición es una propiedad básica de los formatos de representación del Sistema de Numera- ción en Base Diez (SNBD), y su comprensión facilita el desempeño matemático de los estudiantes en diferentes grados escolares. Algunas investigaciones sugieren que nociones como la composición aditiva y la equivalencia numérica participan en la emergencia de la comprensión de este principio, sin embargo, pocos estudios han intentado analizar la relación entre estas nociones o se han interesado en indagar ­desde una perspectiva de la transcodificación numérica­, cómo estas afectan la producción de numerales arábigos durante los procesos iniciales del aprendizaje escolar. En tal sentido, esta investigación propone indagar si algunas de las invariantes del SNBD ­composición aditiva y equivalencia numérica­ facilitan la comprensión del valor de posición y la escritura numérica en estudiantes de primer grado de primaria. Participaron 96 estudiantes adscritos a escuelas públicas de Cali, Colombia, en un estudio cuasi-experimental pre-posprueba con grupo control, que involucra la aplicación de un proceso de intervención diferente para cada grupo experimental: composición aditiva y (b) equivalencia numérica. Los resultados plantean que los dos tratamientos apli- cados facilitan la comprensión del valor de posición y generan efectos diferentes en la comprensión y producción de numerales arábigos. Además, los análisis develan cambios significativos entre aplicaciones para los grupos experimentales, pero no para el grupo con- trol, lo cual sugiere que la composición aditiva y la equivalencia numérica son predictores en la escritura correcta de numerales.

The place value is a fundamental property of the base-10 system representation formats, and its under- standing facilitates the mathematical performance of children in different school grades. Some research sug- gests that notions such as additive composition and nu- merical equivalence participate in the emergence of the understanding of this principle. However, few studies have attempted to analyze the relationship between these notions or have been interested in investigating ­from a transcoding perspective numerical­ how these affect the production of Arabic numerals during the initial processes of school learning. This research explores how some invariants of the base-10 system: Additive Composition and Numerical Equivalence, facilitate the place value mastery and the numerical writing of children. First-grade students (n= 96) linked to public schools in the city of Cali, Colombia, in a quasi-experimental experimental study with a control group, which involves the application of different in- tervention processes to each experimental group: (a) numerical equivalence and (b) additive composition. The results suggest that both treatments facilitate the place value understanding and generate differ- ent effects on comprehending and producing Arabic numerals. In addition, analyses reveal significant changes between applications for the experimental groups but not for the group control, which specif- ically evidences both the additive composition and the numerical equivalence are predictors in correct number writing.

O valor posicional é uma propriedade básica dos forma- tos de representação do Sistema de Numeração Base Dez (SNBD), e sua compreensão facilita o desempenho mate- mático de alunos de diferentes séries escolares. Algumas pesquisas sugerem que noções como composição aditiva e equivalência numérica participam do surgimento da compreensão desse princípio, porém, poucos estudos têm tentado analisar a relação entre essas noções ou se interessado em investigar ­a partir de uma perspectiva de transcodificação numérica­ como essas afetam a produção de algarismos arábicos durante os processos iniciais de aprendizagem escolar. Esta investigação se propõe a investigar se alguns dos invariantes do SNBD; a composição aditiva e a equivalência numérica facilitam a compreensão do valor posicional e da escrita numérica em alunos da primeira série. Participaram do experi- mento 96 alunos da primeira série de escolas públicas de Cali, Colômbia; num estudo quase experimental pré/pós-teste com um grupo controle, que envolve a aplicação de um processo de intervenção diferen- te a cada grupo experimental; (a) composição aditiva e (b) equivalência numérica. Os resultados sugerem que os dois tratamentos aplicados facilitam a compreensão do valor posicional e geram efeitos diferentes na com- preensão e produção dos algarismos arábicos. Além disso, as análises revelam mudanças significativas entre as aplicações para os grupos experimentais, mas não para o grupo controle, o que sugere que a composi- ção aditiva e a equivalência numérica são preditores na escrita correta dos numerais.

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Pathogenic heterozygous variants in SCN2A, which encodes the neuronal sodium channel NaV1.2, cause different types of epilepsy or intellectual disability (ID)/autism without seizures. Previous studies using mouse models or heterologous systems suggest that NaV1.2 channel gain-of-function typically causes epilepsy, whereas loss-of-function leads to ID/autism. How altered channel biophysics translate into patient neurons remains unknown. Here, we investigated iPSC-derived early-stage cortical neurons from ID patients harboring diverse pathogenic SCN2A variants [p.(Leu611Valfs*35); p.(Arg937Cys); p.(Trp1716*)] and compared them with neurons from an epileptic encephalopathy (EE) patient [p.(Glu1803Gly)] and controls. ID neurons consistently expressed lower NaV1.2 protein levels. In neurons with the frameshift variant, NaV1.2 mRNA and protein levels were reduced by ~ 50%, suggesting nonsense-mediated decay and haploinsufficiency. In other ID neurons, only protein levels were reduced implying NaV1.2 instability. Electrophysiological analysis revealed decreased sodium current density and impaired action potential (AP) firing in ID neurons, consistent with reduced NaV1.2 levels. In contrast, epilepsy neurons displayed no change in NaV1.2 levels or sodium current density, but impaired sodium channel inactivation. Single-cell transcriptomics identified dysregulation of distinct molecular pathways including inhibition of oxidative phosphorylation in neurons with SCN2A haploinsufficiency and activation of calcium signaling and neurotransmission in epilepsy neurons. Together, our patient iPSC-derived neurons reveal characteristic sodium channel dysfunction consistent with biophysical changes previously observed in heterologous systems. Additionally, our model links the channel dysfunction in ID to reduced NaV1.2 levels and uncovers impaired AP firing in early-stage neurons. The altered molecular pathways may reflect a homeostatic response to NaV1.2 dysfunction and can guide further investigations.

Effectiveness of topical insulin for the treatment of surface corneal pathologies.

The Purpose is to identify, through a systematic literature review, the current evidence regarding the effectiveness of topical insulin treatment in ocular surface pathologies. A literature search was implemented in Medline (Pubmed), Embase and Web Of Science medical indexing databases by using keywords such as "insulin" AND "cornea" OR "corneal" OR "dry eye" in published papers in English or Spanish within the last eleven years (2011-2022). Nine papers were identified with 180 participants from the United States, Spain, Ireland, Canada, Portugal and Malaysia, with persistent refractory epithelial defects and secondary to vitrectomy, whose extension of the lesion was from 3,75mm2 to 65.47mm2. The preparation was dissolved with artificial tears and the insulin concentration ranged from 1 IU/ml to 100 IU/ml. In all cases, the resolution of the clinical picture was complete with a healing time from 2.5 days to 60.9 days, the latter being a secondary case to a difficult-to-control caustic burn. Topical insulin has been effective for the treatment of persistent epithelial defects. The intermediate action and low concentrations showed a shorter resolution time in neurotrophic ulcers and induced during vitreoretinal surgery.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

BACKGROUND AND PURPOSE: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book Pediatric Neuroimaging from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation. MATERIALS AND METHODS: This is a multicenter, international, retrospective study. We assessed the patients' medical records, prenatal ultrasounds, MR images, genetic findings, and postmortem results. We reviewed the medical literature for all studies depicting medullary malformations and evaluated cases in which a dorsal medullary protuberance was described. RESULTS: We collected 13 patients: 3 fetuses and 10 children. The medullary caps had multiple characteristics. Associated brain findings were a rotated position of the medulla, a small and flat pons, cerebellar anomalies, a molar tooth sign, and agenesis of the corpus callosum. Systemic findings included the following: polydactyly, hallux valgus, large ears, and coarse facies. Postmortem analysis in 3 patients revealed that the cap contained either neurons or white matter tracts. We found 8 publications describing a dorsal medullary protuberance in 27 patients. The syndromic diagnosis was Joubert-Boltshauser syndrome in 11 and fibrodysplasia ossificans progressiva in 14 patients. CONCLUSIONS: This is the first study to describe a series of 13 patients with medullary tegmental cap dysplasia. The cap has different shapes: distinct in Joubert-Boltshauser syndrome and fibrodysplasia ossificans progressive. Due to the variations in the clinical, imaging, and postmortem findings, we conclude that there are multiple etiologies and pathophysiology. We suggest that in some patients, the pathophysiology might be abnormal axonal guidance.