Immunol Allergy Clin North Am. 2023 Feb;43(1):159-168. doi: 10.1016/j.iac.2022.07.003. Epub 2022 Oct 28.

ABSTRACT

Mastocytosis is a rare neoplastic disorder of the mast cell lineage resulting in unregulated proliferation and activation of mast cells. Symptoms worsen in about one-third of pregnant patients. Treatment focuses on management of symptoms with antimediator therapy (H1 & H2 antihistamines, glucocorticoids, and epinephrine, if required). Medication selection requires care during labor and delivery. Although it is generally considered safe to use a medication patient tolerated before, some common medications may need to be avoided or used with caution (eg, codeine, morphine, nonsteroidal antiinflammatory drugs, vancomycin) if the patient does not have any history of exposure to them.

PMID:36411001 | DOI:10.1016/j.iac.2022.07.003

Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022.

ABSTRACT

16p13.11 copy number variants (CNVs) have been associated with autism, schizophrenia, psychosis, intellectual disability, and epilepsy. The majority of 16p13.11 deletions or duplications occur within three well-defined intervals, and despite growing knowledge of the functions of individual genes within these intervals, the molecular mechanisms that underlie commonly observed clinical phenotypes remain largely unknown. Patient-derived, induced pluripotent stem cells (iPSCs) provide a platform for investigating the morphological, electrophysiological, and gene-expression changes that result from 16p13.11 CNVs in human-derived neurons. Patient derived iPSCs with varying sizes of 16p13.11 deletions and familial controls were differentiated into cortical neurons for phenotypic analysis. High-content imaging and morphological analysis of patient-derived neurons demonstrated an increase in neurite branching in patients compared with controls. Whole-transcriptome sequencing revealed expression level changes in neuron development and synaptic-related gene families, suggesting a defect in synapse formation. Subsequent quantification of synapse number demonstrated increased numbers of synapses on neurons derived from early-onset patients compared to controls. The identification of common phenotypes among neurons derived from patients with overlapping 16p13.11 deletions will further assist in ascertaining common pathways and targets that could be utilized for screening drug candidates. These studies can help to improve future treatment options and clinical outcomes for 16p13.11 deletion patients.

PMID:36405918 | PMC:PMC9669751 | DOI:10.3389/fpsyt.2022.924956

Medicine (Baltimore). 2022 Nov 18;101(46):e31874. doi: 10.1097/MD.0000000000031874.

ABSTRACT

INTRODUCTION: Philadelphia chromosome (Ph) positive myelodysplastic syndrome (MDS) is a very rare disease. At present, the specific role of Ph in MDS is not clear, but such patients seem to have a poor prognosis, so the disease deserves attention. Here, we describe the history of a woman with Ph-positive MDS and perform a systematic review of related literature.

PATIENT CONCERNS AND DIAGNOSIS: We report a 38-year-old woman with Ph-positive MDS.

INTERVENTIONS AND OUTCOMES: She received chemotherapy with decitabine, cytarabine, aclarubicin, and granulocyte colony-stimulating factor (DCAG) combined with imatinib mesylate and achieved a bone marrow remission. She then underwent an allogeneic hematopoietic stem cell transplant. The condition is good and no recurrence of the disease has been observed.

CONCLUSION: Ph-positive MDS is a very rare disease. Ph may aid in the malignant progression of MDS leaving such patients with a very poor prognosis. Tyrosine kinase inhibitors (TKIs) plus chemotherapy followed by allogeneic hematopoietic stem cell transplantation has provided these patients with satisfactory outcomes.

PMID:36401464 | DOI:10.1097/MD.0000000000031874

Ann Ital Chir. 2022;93:566-570.

ABSTRACT

BACKGROUNDS: Low anterior resection syndrome (LARS) was defined with symptoms such as frequency, incontinence, urgency, and constipation in patients who underwent Sphincter-Sparing Rectum Surgery (SSRC). In this study, LARS rates and risk factors of the patients who underwent SSRC were Investigated.

MATERIAL METHOD: The medical records of patients with SSRC at general surgery department were examined retrospectively. Clinical characteristics, neo/adjuvant chemo-radiotherapies, distal resection levels, open/laparoscopic procedures, postoperative complications, and pathological outcomes were recorded. LARS scoring system defined by Emmertsen and Laurberg was used to calculate LARS scores.

RESULTS: The number of eligible patients was 129. The rectal resection was performed by either low anterior resection (LAR) or very low anterior resection (VLAR). VLAR was used to specify that had anastomosis <5cm to the anal verge. The median follow-up time was 12 (1-30) months. LARS were detected in 60 (%47) patients. LARS rates were significantly higher in the patients underwent VLAR (n: 35 9% vs. 48%<0,001). In univariate analysis, the level of distal resection, open surgeries, neoadjuvant RT, and diversion with temporary stoma were significantly different in LARS group. However, in multivariate analysis, distal resection level was the only significant risk factor for LARS.

CONCLUSION: Low anterior resection syndrome (LARS) was frequently seen in patients who underwent sphincter-sparing rectum surgery (SSRS). It was detected that distal resection levels were the most important risk factor for the development of LARS. This result showed that LARS should not be disregarded in patients underwent SSRS.

KEY WORDS: Bowel Disfunction, Cancer, Incontinence, LARS, Rectum.

PMID:36398766

Orphanet J Rare Dis. 2022 Nov 17;17(1):418. doi: 10.1186/s13023-022-02530-3.

ABSTRACT

BACKGROUND: According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD in Spain, along with its associated time trend; and secondly, to identify and measure diagnostic delay (defined by the IRDiRC as any period exceeding a year) by reference to the characteristics of RDs and the persons affected by them.

METHODS: Using data sourced from the Spanish Rare Diseases Patient Registry, we performed a descriptive analysis of the time elapsed between symptom onset and diagnosis of each RD, by sex, age and date of symptom onset, and type of RD. We analysed the time trend across the period 1960-2021 and possible change points, using a Joinpoint regression model and assuming a Poisson distribution. The multivariate analysis was completed with backward stepwise logistic regression.

RESULTS: Detailed information was obtained on 3304 persons with RDs: 56.4% had experienced delay in diagnosis of their RDs, with the mean time taken being 6.18 years (median = 2; IQR 0.2-7.5). Both the percentage of patients with diagnostic delay and the average time to diagnosis underwent a significant reduction across the study period (p < 0.001). There was a higher percentage of diagnostic delays: in women (OR 1.25; 95% CI 1.07-1.45); in cases with symptom onset at age 30-44 years (OR 1.48; 95% CI 1.19-1.84): and when analysed by type of RD, in mental and behavioural disorders (OR 4.21; 95% CI 2.26-7.85), followed by RDs of the nervous system (OR 1.39; 95% CI 1.02-1.88).

CONCLUSIONS: This is the first study to quantify time to diagnosis of RDs in Spain, based on data from a national registry open to any RD. Since over half of all persons affected by RDs experience delay in diagnosis, new studies are needed to ascertain the factors associated with this delay and the implications this has on the lives of patients and their families.

PMID:36397119 | PMC:PMC9670379 | DOI:10.1186/s13023-022-02530-3

Arab J Gastroenterol. 2022 Nov;23(4):290-293. doi: 10.1016/j.ajg.2022.10.007. Epub 2022 Nov 13.

NO ABSTRACT

PMID:36384942 | DOI:10.1016/j.ajg.2022.10.007

Arch Dis Child. 2022 Dec;107(12):1136. doi: 10.1136/archdischild-2022-325090.

NO ABSTRACT

PMID:36396169 | DOI:10.1136/archdischild-2022-325090

Med Ref Serv Q. 2022 Oct-Dec;41(4):389-394. doi: 10.1080/02763869.2022.2131143.

ABSTRACT

The Genetic and Rare Diseases Information Center (GARD) is a database dedicated to aiding anyone who may be seeking assistance and knowledge regarding rare diseases. This public health resource was put into motion by the Rare Diseases Act of 2002, and uses Translational Science to enhance research procedures. People can use this resource to find support, disease facts, ongoing research information, and available treatments. The GARD database is an excellent guide for anyone wanting to increase their knowledge of rare diseases and how to help those who have a rare disorder.

PMID:36394913 | DOI:10.1080/02763869.2022.2131143

Pediatr Rheumatol Online J. 2022 Nov 16;20(1):101. doi: 10.1186/s12969-022-00761-z.

ABSTRACT

BACKGROUND: Sjogren's syndrome (SS) is a rare chronic autoimmune disease involving exocrine glands presenting with sicca syndrome, recurrent parotitis and other extraglandular stigmata. SS is well characterized in the adult population with classification criteria; however, primary SS presenting in childhood is poorly defined and rare in males. Recurrent parotitis is the most common presenting symptom in children with primary SS; however, clinical phenotype in children appears more variable than in adults. The lungs are a common extraglandular location for manifestations of primary SS. However, interstitial lung disease (ILD) is rare in children with primary SS. There are only four published reports of ILD associated with primary SS in female children. Here, we present a very rare case of primary SS in a pediatric male with pulmonary manifestations and review of the literature on ILD in childhood-onset primary SS.

CASE PRESENTATION: A 14-year-old White male with a history of chronic severe asthma, recurrent parotitis and idiopathic intracranial hypertension was referred to pediatric rheumatology for evaluation of a positive ANA. In early childhood, he was diagnosed with persistent asthma recalcitrant to therapy. At age 8, he developed recurrent episodes of bilateral parotitis despite multiple treatments with sialoendoscopy. At age 14, respiratory symptoms significantly worsened prompting reevaluation. Lab workup was notable for positive ANA and Sjogren's Syndrome A and B antibodies. Pulmonary function tests showed only a mild obstructive process. Computed tomography of chest was significant for small airway disease, and lung biopsy was positive for mild interstitial lymphocytic inflammation presenting a conflicting picture for ILD. The constellation of findings led to the diagnosis of primary SS with associated pulmonary manifestations. He was treated with hydroxychloroquine, mycophenolate mofetil and oral corticosteroids with resolution of symptoms.

CONCLUSIONS: Primary SS is a rare disease in the pediatric population that is poorly characterized. This case is the very rare presentation of childhood-onset primary SS with pulmonary manifestations in a male patient. ILD associated with primary SS is also very rare with only four pediatric patients reported in the literature. Collaborative effort is needed to develop pediatric specific diagnostic and treatment guidelines in this rare condition.

PMID:36384806 | PMC:PMC9670561 | DOI:10.1186/s12969-022-00761-z

BMC Med Ethics. 2022 Nov 16;23(1):112. doi: 10.1186/s12910-022-00842-4.

ABSTRACT

BACKGROUND: As the use of AI becomes more pervasive, and computerised systems are used in clinical decision-making, the role of trust in, and the trustworthiness of, AI tools will need to be addressed. Using the case of computational phenotyping to support the diagnosis of rare disease in dysmorphology, this paper explores under what conditions we could place trust in medical AI tools, which employ machine learning.

METHODS: Semi-structured qualitative interviews (n = 20) with stakeholders (clinical geneticists, data scientists, bioinformaticians, industry and patient support group spokespersons) who design and/or work with computational phenotyping (CP) systems. The method of constant comparison was used to analyse the interview data.

RESULTS: Interviewees emphasized the importance of establishing trust in the use of CP technology in identifying rare diseases. Trust was formulated in two interrelated ways in these data. First, interviewees talked about the importance of using CP tools within the context of a trust relationship; arguing that patients will need to trust clinicians who use AI tools and that clinicians will need to trust AI developers, if they are to adopt this technology. Second, they described a need to establish trust in the technology itself, or in the knowledge it provides-epistemic trust. Interviewees suggested CP tools used for the diagnosis of rare diseases might be perceived as more trustworthy if the user is able to vouchsafe for the technology's reliability and accuracy and the person using/developing them is trusted.

CONCLUSION: This study suggests we need to take deliberate and meticulous steps to design reliable or confidence-worthy AI systems for use in healthcare. In addition, we need to devise reliable or confidence-worthy processes that would give rise to reliable systems; these could take the form of RCTs and/or systems of accountability transparency and responsibility that would signify the epistemic trustworthiness of these tools. words 294.

PMID:36384545 | PMC:PMC9670402 | DOI:10.1186/s12910-022-00842-4

BMC Bioinformatics. 2022 Nov 16;23(1):490. doi: 10.1186/s12859-022-05008-y.

ABSTRACT

BACKGROUND: Identification of deleterious genetic variants using DNA sequencing data relies on increasingly detailed filtering strategies to isolate the small subset of variants that are more likely to underlie a disease phenotype. Datasets reflecting population allele frequencies of different types of variants serve as powerful filtering tools, especially in the context of rare disease analysis. While such population-scale allele frequency datasets now exist for structural variants (SVs), it remains a challenge to match SV calls between multiple datasets, thereby complicating estimates of a putative SV's population allele frequency.

RESULTS: We introduce SVAFotate, a software tool that enables the annotation of SVs with variant allele frequency and related information from existing SV datasets. As a result, VCF files annotated by SVAFotate offer a variety of metrics to aid in the stratification of SVs as common or rare in the broader human population.

CONCLUSIONS: Here we demonstrate the use of SVAFotate in the classification of SVs with regards to their population frequency and illustrate how SVAFotate's annotations can be used to filter and prioritize SVs. Lastly, we detail how best to utilize these SV annotations in the analysis of genetic variation in studies of rare disease.

PMID:36384437 | PMC:PMC9670370 | DOI:10.1186/s12859-022-05008-y

Asian J Urol. 2022 Oct;9(4):451-459. doi: 10.1016/j.ajur.2022.08.001. Epub 2022 Sep 9.

ABSTRACT

OBJECTIVE: Extramammary Paget's disease (EMPD) is a rare cutaneous malignant disease. Due to its rarity, there is a paucity of data regarding best treatment strategy. EMPD primarily affects apocrine gland-bearing skin areas such as the vulva, scrotum, and penis. Our objective was to provide a present-day rationale for diagnosis, pathogenesis, and treatment of EMPD with a focus on recent progress in workup and management of the disease.

METHODS: Literature on EMPD until February 2022 was assessed through PubMed, MEDLINE databases, and Google scholar. A narrative review of the most relevant articles was provided.

RESULTS: EMPD usually presents with indolent growth while usually being diagnosed primarily as carcinoma in situ. The foundation of EMPD treatment centers around prompt and accurate diagnosis, wide local or Mohs micrographic surgical excision with proper management towards the margin status, and careful consideration for lymphadenectomy in patients with regionally positive disease. Conventional chemotherapies are alternative treatments modality for patients with distant metastases; however, they sometimes have suboptimal efficacy. At present, there is no agreement regarding adjuvant or systemic therapies, although recent studies have shown several insights into the molecular pathogenesis, tumor biology, and genomics of the development and advancement of EMPD, which may lead to novel and targeted treatment approaches for metastatic EMPD in the future.

CONCLUSION: Patients with EMPD should seek care from physicians with expertise in disease management and patient counseling. These patients should be surveilled with close follow-up to evaluate them for disease recurrence or progression. Global collaborations with groups such as the Global Society for Rare Genitourinary Tumors, and especially patient support groups are crucial in designing clinical trials to help elucidate more robust data in this orphan disease.

PMID:36381596 | PMC:PMC9643171 | DOI:10.1016/j.ajur.2022.08.001

BMJ Case Rep. 2022 Nov 15;15(11):e249391. doi: 10.1136/bcr-2022-249391.

ABSTRACT

We present an infant with persistent macrocephaly and developmental delay. There is a wide range of differential diagnoses for this presentation, including many rare genetic conditions. Here, a diagnosis of Malan syndrome was made-a rare overgrowth syndrome caused by haploinsufficiency of NFIX and features affecting the neurological and musculoskeletal systems. Improvements in genomic medicine technologies and clinical services have revolutionised the way clinicians diagnose rare diseases. We highlight the importance of early genetic testing, particularly if there are red flag features such as developmental delay, and the need for a coordinated strategy to improve the management of rare diseases like Malan syndrome.

PMID:36379624 | PMC:PMC9668004 | DOI:10.1136/bcr-2022-249391

JAMA. 2022 Nov 15;328(19):1898-1899. doi: 10.1001/jama.2022.18479.

NO ABSTRACT

PMID:36378219 | DOI:10.1001/jama.2022.18479

BMC Bioinformatics. 2022 Nov 14;23(1):482. doi: 10.1186/s12859-022-05041-x.

ABSTRACT

BACKGROUND: Despite numerous molecular and computational advances, roughly half of patients with a rare disease remain undiagnosed after exome or genome sequencing. A particularly challenging barrier to diagnosis is identifying variants that cause deleterious alternative splicing at intronic or exonic loci outside of canonical donor or acceptor splice sites.

RESULTS: Several existing tools predict the likelihood that a genetic variant causes alternative splicing. We sought to extend such methods by developing a new metric that aids in discerning whether a genetic variant leads to deleterious alternative splicing. Our metric combines genetic variation in the Genome Aggregate Database with alternative splicing predictions from SpliceAI to compare observed and expected levels of splice-altering genetic variation. We infer genic regions with significantly less splice-altering variation than expected to be constrained. The resulting model of regional splicing constraint captures differential splicing constraint across gene and exon categories, and the most constrained genic regions are enriched for pathogenic splice-altering variants. Building from this model, we developed ConSpliceML. This ensemble machine learning approach combines regional splicing constraint with multiple per-nucleotide alternative splicing scores to guide the prediction of deleterious splicing variants in protein-coding genes. ConSpliceML more accurately distinguishes deleterious and benign splicing variants than state-of-the-art splicing prediction methods, especially in "cryptic" splicing regions beyond canonical donor or acceptor splice sites.

CONCLUSION: Integrating a model of genetic constraint with annotations from existing alternative splicing tools allows ConSpliceML to prioritize potentially deleterious splice-altering variants in studies of rare human diseases.

PMID:36376793 | DOI:10.1186/s12859-022-05041-x

Med Anthropol. 2022 Nov-Dec;41(8):866-878. doi: 10.1080/01459740.2022.2141630. Epub 2022 Nov 14.

ABSTRACT

Treatment of a child diagnosed with an inherited metabolic disease is a demanding task both for the clinicians and for the parents. The metabolic pediatricians and dietitians have to deal with scarce and dispersed clinical knowledge, while the parents must actively participate in its treatment, the bulk of which consists of a stringent diet and managing the risk of metabolic decompensation or intoxication. In this article, I characterize the medical epistemologies of a particular kind of "metabolic living," discussing differences and similarities between the clinical/expert knowledge of metabolic specialists, and the lay knowledge of parents of affected children.

PMID:36375091 | DOI:10.1080/01459740.2022.2141630

Orphanet J Rare Dis. 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3.

ABSTRACT

BACKGROUND: Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack of high-certainty evidence and the inadequacy of accepted metrics to measure health status continues to present challenges in FRDA and other rare diseases. To overcome these challenges, the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group was adopted to update the clinical guidelines for FRDA. This approach incorporates additional strategies to the GRADE framework to support the strength of recommendations, such as review of literature in similar conditions, the systematic collection of expert opinion and patient perceptions, and use of natural history data.

METHODS: A panel representing international clinical experts, stakeholders and consumer groups provided oversight to guideline development within the GRADE framework. Invited expert authors generated the Patient, Intervention, Comparison, Outcome (PICO) questions to guide the literature search (2014 to June 2020). Evidence profiles in tandem with feedback from individuals living with FRDA, natural history registry data and expert clinical observations contributed to the final recommendations. Authors also developed best practice statements for clinical care points that were considered self-evident or were not amenable to the GRADE process.

RESULTS: Seventy clinical experts contributed to fifteen topic-specific chapters with clinical recommendations and/or best practice statements. New topics since 2014 include emergency medicine, digital and assistive technologies and a stand-alone section on mental health. Evidence was evaluated according to GRADE criteria and 130 new recommendations and 95 best practice statements were generated.

DISCUSSION AND CONCLUSION: Evidence-based CMGs are required to ensure the best clinical care for people with FRDA. Adopting the GRADE rare-disease framework enabled the development of higher quality CMGs for FRDA and allows individual topics to be updated as new evidence emerges. While the primary goal of these guidelines is better outcomes for people living with FRDA, the process of developing the guidelines may also help inform the development of clinical guidelines in other rare diseases.

PMID:36371255 | DOI:10.1186/s13023-022-02568-3

Fish Shellfish Immunol. 2022 Nov 9:S1050-4648(22)00743-4. doi: 10.1016/j.fsi.2022.10.067. Online ahead of print.

ABSTRACT

Spring viremia of carp (SVC) remains as a vaccine orphan disease mostly affecting juvenile specimens. Young fish are especially difficult to vaccinate and oral administration of vaccine combined with food would be the election system to minimise stress and the vaccination costs associated to injection. However, administration of prophylactics with food pellets faces off several drawbacks mainly related with vaccine degradation and weak protection correlates of oral vaccines. Here we present a platform based on recombinant proteins (subunit vaccines) manufactured as highly resistant nanostructured materials, and providing excellent levels of protection against SVC virus in a preliminar i.p injection challenge. The G3 domain of SVCV glycoprotein G was overexpressed in E. coli together with IFNγ and the modular protein was purified from bacterial aggregates (inclusion bodies) as highly organised nanostructured biomaterial (nanopellets, NP). These SVCV-IFNNP were taken up by zebrafish cells leading to the enhanced expression of different antiviral and IFN markers (e.g vig1, mx, lmp2 or infgr1 among others) in zebrafish liver cells (ZFL). To monitor if SVCVNP and SVCV-IFNNP can be taken up by intestinal epithelia and can induce antiviral response we performed experiments with SVCVNP and SVCV-IFNNP in 3 days post fertilization (dpf) zebrafish larvae. Both, SVCVNP and SVCV-IFNNP were taken up and accumulated in the intestine without signs of toxicity. The antiviral response in larvae showed a different induction pattern: SVCV-IFNNP did not induce an antiviral response while SVCVNP showed a good antiviral induction. Interestingly ZF4, an embryonic derived cell line, showed an antiviral response like ZFL cells, although the lmp2 and infgr (markers of the IFNγ response) were not overexpressed. Experiments with adult zebrafish indicated an excellent level of protection against a SVCV model infection where SVCV-IFNNP vaccinated fish reached 20% cumulative mortality while control fish reached over 80% cumulative mortality.

PMID:36371050 | DOI:10.1016/j.fsi.2022.10.067

Neurol Sci. 2022 Nov 11. doi: 10.1007/s10072-022-06487-w. Online ahead of print.

ABSTRACT

BACKGROUND: Hereditary spastic paraplegia (HSP) include various sporadic and hereditary neurodegenerative disorders, characterized by progressive spasticity and weakness of lower limbs, possibly associated to additional features.

CASE PRESENTATION: We report a male HPS patient in his 40 s, showing mental retardation associated with language impairment, dysarthria, and increased urinary frequency. Three months after treatment with electric chronic high-frequency cervical spinal cord stimulation (HF-SCS), he showed an amelioration of motor symptoms (lower limbs spasticity and gait), dysarthria, cognitive functioning (language and constructive praxic abilities), and urinary symptoms (decreased urinary frequency). Single-photon emission computed tomography (SPECT) showed a postoperative increase of cerebral perfusion in right frontal cortex and temporal cortex bilaterally.

CONCLUSION: In our patient, HF-SCS might have induced an activation of ascending neural pathways, resulting in changes in activity in various cortical areas (including sensory-motor cortical areas), which may give rise to a modulation of activity in spared descending motor pathways and in neural networks involved in cognitive functions, including language. Although further studies in patients with HPS are needed to clarify whether HF-SCS can be a suitable treatment option in HSP, our observation suggests that HF-SCS, a minimally invasive neurosurgical procedure, might induce beneficial effects of on various symptoms of such orphan disease.

PMID:36369309 | DOI:10.1007/s10072-022-06487-w

Int J Environ Res Public Health. 2022 Oct 28;19(21):14103. doi: 10.3390/ijerph192114103.

ABSTRACT

The context of a school may play a fundamental role in students' academic and personal progress. In this study, we focus on two contextual variables, the school type and school location or setting. The study used a questionnaire to assess teachers' knowledge and thoughts about rare diseases based on these variables, with the participation of 574 school teachers. To broaden the research perspective, another questionnaire was administered to members of 152 rare disease patient advocacy groups to ask about their participation in educational processes and analyse their results according to one of the contextual variables: the setting or location of each association. The results indicated statistically significant differences according to the variables examined, which were larger for the type of school variable. In short, numerous variables that influence the teaching and learning processes need to be considered in educational praxis; in this study, we looked at those of a contextual nature (for example, the geographic characteristics of schools and associations), and this is essential for increasingly heterogeneous educational locations that demand multidimensional approaches.

PMID:36360981 | DOI:10.3390/ijerph192114103