Lacrimal sac Diffuse Large B-Cell Lymphoma Presenting as Sudden-Onset Binocular Diplopia.

Introduction: Diffuse large B-cell lymphoma (DLBCL) is a prevalent subtype of non-Hodgkin lymphoma (NHL) affecting predominantly elderly individuals. Case description: A 68-year-old man with a history of hypertension, hyperlipidaemia and a small pituitary gland tumour presented with sudden-onset binocular diplopia and right-eye blurry vision. A magnetic resonance imaging (MRI) of the brain revealed enhancing soft tissue in the right superolateral orbit inseparable from the lacrimal gland, extending medially to the right superior rectus muscle and soft tissue. Further scanning showed widespread metastasis to the bilateral retroperitoneal lymph nodes, adrenal gland, spine and lymph nodes in the neck. A biopsy of the lacrimal gland confirmed DLBCL. Conclusion: Primary lacrimal gland DLBCL is a rare and delayed diagnosis that often stems from the resemblance of its clinical manifestations to more benign conditions such as dacryocystitis, dacryostenosis or mucocele. Timely recognition and accurate diagnosis are essential for initiating appropriate treatment and improving patient outcomes. LEARNING POINTS: Lacrimal sac lymphomas represent diagnostic challenges due to their rarity, non-specific symptoms and frequent misdiagnoses as benign pathologies, hence it is crucial to include this in the differential diagnosis.Timely recognition and accurate diagnosis are important in improving outcomes for lacrimal sac lymphomas.

From No Disease to Stage IV Colon Cancer in Four Months: A Case Report.

Colorectal cancer remains one of the most common cancers in the population. Meanwhile, steroids or other immunosuppressive drugs are usually given in rheumatological diseases as a treatment for flare-ups. Herein, we present the case of a 61-year-old female diagnosed with metastatic colorectal cancer merely four months following the commencement of glucocorticoid therapy for a recently diagnosed rheumatologic condition, despite a clear colorectal cancer screening colonoscopy conducted four months prior. The case report discusses the possible impact of corticosteroids on the fast disease progression of colorectal cancer and raises awareness regarding this potential risk.

Demographics aspects of brain and spine metastatic melanoma. Retrospective analysis in a single third-level center.

Background: Melanoma metastases to the CNS rank third in frequency, just after lung and breast metastases. There is controversy regarding the factors predisposing to developing CNS metastases in patients with cutaneous melanoma and their survival with conventional treatments. Methods: We carried out a retrospective analysis in a third-level hospital in Mexico to determine epidemiological aspects of melanoma metastases to the central nervous system, factors related to its appearance, clinical presentation, and survival in three treatment groups: surgery, radiotherapy, and conservative management. Results: We found that the nodular variant has the most significant association with CNS metastases. In addition, the superficial spreading variant has the highest risk of presenting a more substantial number of lesions, up to seven for each case and predominantly in the infratentorial space. On the other hand, we found more remarkable survival in patients treated only with surgery than those treated with radiotherapy or conservatively. Conclusions: This study lays the foundations for future prospective survival analysis of the different current treatment modalities for metastatic melanoma in the brain and spine. It also highlights the clinical risk factors for metastatic brain and spine tumors of melanoma.

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.

Hyperphenylalaninemia (HPA), which includes phenylketonuria (PKU), is a genetic autosomal recessive disorder arising from a deficiency in the enzyme named phenylalanine hydroxylase (PAH). Affected patients can experience severe and irreversible neurological impairments when phenylalanine (Phe) blood concentration exceeds 360 µmol/L (6 mg/dL). Here, we describe a female HPA patient who was born in Mexico to Cuban non-consanguineous parents and identified by newborn screening, and who bears the previously unreported PAH NM_000277.3(PAH):c.[229T>C];[1222C>T] or p.[Tyr77His];[Arg408Trp] genotype. At diagnosis, the patient showed a Phe blood level of 321 µmol/L (5.3 mg/dL), indicative of mild HPA. Neither of the PAH variants found in this patient had been previously reported in the mutational PAH spectrum of the Mexican population. The c.229T>C or p.(Tyr77His) PAH variant was previously related to mild HPA in the Swedish population. Our in silico structural analysis and molecular docking showed that mutated His 77 residue is located in the allosteric site of PAH at the interface of the two monomers. The PDBsum in silico tool predicted that this variant would cause minimal structural disturbance of the protein interface in the presence of Phe at the allosteric site. Docking studies revealed that these structural changes might be attenuated by the allosteric effect of Phe. Given the classic PKU phenotype conditioned by the "Celtic" or c.[1222C>T] or p.(Arg408Trp) PAH variant, which is the second variant in this patient, we propose that p.(Tyr77His) has a hypomorphic feature that could explain her mild HPA phenotype. Our results show the importance of following up on cases detected by NBS and the value of genetic studies and in silico tools that aid in the establishment of correct therapeutic strategies.

DS-CNN: Deep Convolutional Neural Networks for Facial Emotion Detection in Children with Down Syndrome during Dolphin-Assisted Therapy.

In Mexico, according to data from the General Directorate of Health Information (2018), there is an annual incidence of 689 newborns with Trisomy 21, well-known as Down Syndrome. Worldwide, this incidence is estimated between 1 in every 1000 newborns, approximately. That is why this work focuses on the detection and analysis of facial emotions in children with Down Syndrome in order to predict their emotions throughout a dolphin-assisted therapy. In this work, two databases are used: Exploratory Data Analysis, with a total of 20,214 images, and the Down's Syndrome Dataset database, with 1445 images for training, validation, and testing of the neural network models. The construction of two architectures based on a Deep Convolutional Neural Network manages an efficiency of 79%, when these architectures are tested with a large reference image database. Then, the architecture that achieves better results is trained, validated, and tested in a small-image database with the facial emotions of children with Down Syndrome, obtaining an efficiency of 72%. However, this increases by 9% when the brain activity of the child is included in the training, resulting in an average precision of 81%. Using electroencephalogram (EEG) signals in a Convolutional Neural Network (CNN) along with the Down's Syndrome Dataset (DSDS) has promising advantages in the field of brain-computer interfaces. EEG provides direct access to the electrical activity of the brain, allowing for real-time monitoring and analysis of cognitive states. Integrating EEG signals into a CNN architecture can enhance learning and decision-making capabilities. It is important to note that this work has the primary objective of addressing a doubly vulnerable population, as these children also have a disability.

Editing the Human Genome with CRISPR/Cas: A Review of its Molecular Basis, Current Clinical Applications, and Bioethical Implications.

Abstract: CRISPR/Cas genes evolved in prokaryotic organisms as a mechanism of defense designed to identify and destroy genetic material from threatening viruses. A breakthrough discovery is that CRISPR/Cas system can be used in eukaryotic cells to edit almost any desired gene. This comprehensive review addresses the most relevant work in the CRISPR/Cas field, including its history, molecular biology, gene editing capability, ongoing clinical trials, and bioethics. Although the science involved is complex, we intended to describe it in a concise manner that could be of interest to diverse readers, including anyone dedicated to the treatment of patients who could potentially benefit from gene editing, molecular biologists, and bioethicists. CRISPR/Cas has the potential to correct inherited diseases caused by single point mutations, to knock-in the promoter of a gene whose expression is highly desirable or knockout the gene coding for a deleterious protein. CRISPR/Cas technique can also be used to edit ex vivo immune cells and reinsert them in patients, improving their efficiency in attacking malignant cells, limiting the infectious potential of viruses or modulating xenotransplant rejection. Very important bioethical considerations on this topic include the need to internationally regulate its use by ad hoc expert committees and to limit its use until safety and bioethical issues are satisfactorily resolved.

Editing the Human Genome with CRISPR/Cas: A Review of its Molecular Basis, Current Clinical Applications, and Bioethical Implications

ABSTRACT CRISPR/Cas genes evolved in prokaryotic organisms as a mechanism of defense designed to identify and destroy genetic material from threatening viruses. A breakthrough discovery is that CRISPR/Cas system can be used in eukaryotic cells to edit almost any desired gene. This comprehensive review addresses the most relevant work in the CRISPR/Cas field, including its history, molecular biology, gene editing capability, ongoing clinical trials, and bioethics. Although the science involved is complex, we intended to describe it in a concise manner that could be of interest to diverse readers, including anyone dedicated to the treatment of patients who could potentially benefit from gene editing, molecular biologists, and bioethicists. CRISPR/Cas has the potential to correct inherited diseases caused by single point mutations, to knock-in the promoter of a gene whose expression is highly desirable or knockout the gene coding for a deleterious protein. CRISPR/Cas technique can also be used to edit ex vivo immune cells and reinsert them in patients, improving their efficiency in attacking malignant cells, limiting the infectious potential of viruses or modulating xenotransplant rejection. Very important bioethical considerations on this topic include the need to internationally regulate its use by ad hoc expert committees and to limit its use until safety and bioethical issues are satisfactorily resolved.

Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico.

Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a major medical institution in Mexico, where patients with BMF receive a complete approach that includes paraclinical tests. Readily recognizable features, such as the hematological and distinctive physical phenotypes, identified by clinical dysmorphologists, remain crucial for the diagnosis and management of these patients, particularly in circumstances where next-generation sequencing (NGS) is not easily available. Here, we describe a group of Mexican patients with a high clinical suspicion of an IBMFS. Methods: We performed a systematic retrospective analysis of the medical records of patients who had a high IBMFS suspicion at our institution from January 2018 to July 2021. An initial assessment included first ruling out acquired causes of BMF by the Hematology Department and referral of the patient to the Department of Human Genetics for physical examination to search for specific phenotypes suggesting an IBMFS. Patients with high suspicion of having an IBMFS were classified into two main groups: 1) specific IBMFS, including dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), Shwachman-Diamond syndrome (SDS), thrombocytopenia with absent radii (TAR), and severe congenital neutropenia (SCN); 2) undefined IBMFS (UI). Results: We established a high suspicion of having an IBMFS in 48 patients. At initial evaluation, the most common hematologic features were bicytopenia (20%) and aplastic anemia (16%); three patients received hematopoietic stem cell transplantation. Among patients with a suspicion of an IBMFS, the most common physical abnormality was minor craniofacial features in 83% of patients and neurodevelopmental disorders in 52%. The specific suspicions that we built were DBA (31%), SDS (18%), DC (14%), TAR (4%), and SCN (4%), whereas 27% of cases remained as undefined IBMFS. SDS, TAR, and SCN were more commonly suspected at an earlier age (<1 year), followed by DBA (2 years) and DC (5 years). Conclusions: Thorough examination of reported clinical data allowed us to highly suspect a specific IBMFS in approximately 70% of patients; however, an important number of patients remained with suspicion of an undefined IBMFS. Implementation of NGS and telomere length measurement are forthcoming measures to improve IBMFS diagnosis in Mexico.

Longitudinal Analysis of Urinary Cytokines and Biomarkers in COVID-19 Patients with Subclinical Acute Kidney Injury.

In hospitalized COVID-19 patients, disease progression leading to acute kidney injury (AKI) may be driven by immune dysregulation. We explored the role of urinary cytokines and their relationship with kidney stress biomarkers in COVID-19 patients before and after the development of AKI. Of 51 patients, 54.9% developed AKI. The principal component analysis indicated that in subclinical AKI, epidermal growth factor (EGF) and interferon (IFN)-α were associated with a lower risk of AKI, while interleukin-12 (IL-12) and macrophage inflammatory protein (MIP)-1ß were associated with a higher risk of AKI. After the manifestation of AKI, EGF and IFN-α remained associated with a lower risk of AKI, while IL-1 receptor (IL-1R), granulocyte-colony stimulating factor (G-CSF), interferon-gamma-inducible protein 10 (IP-10) and IL-5 were associated with a higher risk of AKI. EGF had an inverse correlation with kidney stress biomarkers. Subclinical AKI was characterized by a significant up-regulation of kidney stress biomarkers and proinflammatory cytokines. The lack of EGF regenerative effects and IFN-α antiviral activity seemed crucial for renal disease progression. AKI involved a proinflammatory urinary cytokine storm.

The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes.

The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. Genetic and non-genetic factors have been associated with microtia/OAVS. Although the etiology remains unknown in most patients, some cases may have an autosomal dominant, autosomal recessive, or multifactorial inheritance. Among the possible genetic factors, gene−gene interactions may play important roles in the etiology of complex diseases, but the literature lacks related reports in OAVS patients. Therefore, we performed a gene−variant interaction analysis within five microtia/OAVS candidate genes (HOXA2, TCOF1, SALL1, EYA1 and TBX1) in 49 unrelated OAVS Mexican patients (25 familial and 24 sporadic cases). A statistically significant intergenic interaction (p-value < 0.001) was identified between variants p.(Pro1099Arg) TCOF1 (rs1136103) and p.(Leu858=) SALL1 (rs1965024). This intergenic interaction may suggest that the products of these genes could participate in pathways related to craniofacial alterations, such as the retinoic acid (RA) pathway. The absence of clearly pathogenic variants in any of the analyzed genes does not support a monogenic etiology for microtia/OAVS involving these genes in our patients. Our findings could suggest that in addition to high-throughput genomic approaches, future gene−gene interaction analyses could contribute to improving our understanding of the etiology of microtia/OAVS.

Arterial Stiffness and HbA1c: Association Mediated by Insulin Resistance in Hispanic Adults.

Arterial stiffness may be associated with glucose metabolism parameters, such as HbA1c, mainly via insulin resistance. We aimed to investigate the association between arterial stiffness and HbA1c and explore the mediator effect of insulin resistance. In this cross-sectional study, arterial stiffness (pulse-wave velocity; PWV), HbA1c, and insulin resistance (METS-IR) were determined in Hispanic adults. In addition to sex and age, various biochemical measurements (glucose, lipid profile, etc.) and adipose tissue (fat mass and visceral fat mass) were considered as potential confounding variables. A multivariate regression analysis shows that HbA1c is associated with PWV, even after adjusting for several confounding variables. Importantly, the results show that insulin resistance mediated 17.9% of the effect of HbA1c over PWV. In conclusion, HbA1c may be a potential resource for predicting arterial stiffness due to the influence of insulin resistance in Hispanic subjects.

Biosynthesis of Silver Nanoparticles Using Seasonal Samples of Sonoran Desert Propolis: Evaluation of Its Antibacterial Activity against Clinical Isolates of Multi-Drug Resistant Bacteria.

Multi-drug resistant (MDR) bacteria have gained importance as a health problem worldwide, and novel antibacterial agents are needed to combat them. Silver nanoparticles (AgNPs) have been studied as a potent antimicrobial agent, capable of countering MDR bacteria; nevertheless, their conventional synthesis methods can produce cytotoxicity and environmental hazards. Biosynthesis of silver nanoparticles has emerged as an alternative to reduce the cytotoxic and environmental problems derived from their chemical synthesis, using natural products as a reducing and stabilizing agent. Sonoran Desert propolis (SP) is a poplar-type propolis rich in polyphenolic compounds with remarkable biological activities, such as being antioxidant, antiproliferative, and antimicrobial, and is a suitable candidate for synthesis of AgNPs. In this study, we synthesized AgNPs using SP methanolic extract (SP-AgNPs) and evaluated the reduction capacity of their seasonal samples and main chemical constituents. Their cytotoxicity against mammalian cell lines and antibacterial activity against multi-drug resistant bacteria were assessed. Quercetin and galangin showed the best-reduction capacity for synthesizing AgNPs, as well as the seasonal sample from winter (SPw-AgNPs). The SPw-AgNPs had a mean size of around 16.5 ± 5.3 nm, were stable in different culture media, and the presence of propolis constituents was confirmed by FT-IR and HPLC assays. The SPw-AgNPs were non-cytotoxic to ARPE-19 and HeLa cell lines and presented remarkable antibacterial and antibiofilm activity against multi-drug resistant clinical isolates, with E. coli 34 and ATCC 25922 being the most susceptible (MBC = 25 µg/mL), followed by E. coli 2, 29, 37 and PNG (MBC = 50 µg/mL), and finally E. coli 37 and S. aureus ATCC 25923 (MBC = 100 µg/mL). These results demonstrated the efficacy of SP as a reducing and stabilizing agent for synthesis of AgNPs and their capacity as an antibacterial agent.

Establishing a Common Nutritional Vocabulary - From Food Production to Diet.

Informed policy and decision-making for food systems, nutritional security, and global health would benefit from standardization and comparison of food composition data, spanning production to consumption. To address this challenge, we present a formal controlled vocabulary of terms, definitions, and relationships within the Compositional Dietary Nutrition Ontology (CDNO, www.cdno.info) that enables description of nutritional attributes for material entities contributing to the human diet. We demonstrate how ongoing community development of CDNO classes can harmonize trans-disciplinary approaches for describing nutritional components from food production to diet.

Characterization of Diarreaghenic Escherichia coli Strains Isolated from Healthy Donors, including a Triple Hybrid Strain.

Escherichia coli is a well-recognized inhabitant of the animal and human gut. Its presence represents an essential component of the microbiome. There are six pathogenic variants of E. coli associated with diarrheal processes, known as pathotypes. These harbor genetic determinants that allow them to be classified as such. In this work, we report the presence of diarrheagenic pathotypes of E. coli strains isolated from healthy donors. Ninety E. coli strains were analyzed, of which forty-six (51%) harbored virulence markers specifics for diarrheagenic pathotypes, including four hybrids (one of them with genetic determinants of three DEC pathotypes). We also identified phylogenetic groups with a higher prevalence of B2 (45.6%) and A (17.8%). In addition, resistance to sulfonamides (100%), and aminoglycosides (100%) was found in 100% of the strains, with a lower prevalence of resistance to cefotaxime (13.3%), ceftriaxone (12.2%), fosfomycin (10%), and meropenem (0%). All analyzed strains were classified as multidrug resistant. Virulence genes were also investigated, which led us to propose three new virotypes. Among the virulence traits observed, the ability to form biofilms stands out, which was superior to that of the E. coli and Staphylococcus aureus strains used as positive controls.

Prototipo de alimento deshidratado con base en harina de auyama enriquecido con fuentes proteicas no convencionales / Prototype of dehydrated food based on butternut squash flour enriched with non-conventional protein sources

RESUMEN Debido al contenido de macronutrientes, micronutrientes y antioxidantes, la ingesta de hortalizas y de legumbres en la dieta puede reducir el riesgo de enfermedades, por tanto, el objetivo de esta investigación fue desarrollar un prototipo de alimento deshidratado con base en harina de auyama (Cucurbita moschata Duchense), enriquecido con fuentes proteicas, provenientes de granos. Se establecieron seis tratamientos empleando nueve materias primas, variando el porcentaje de cada una de ellas, donde la mayor proporción correspondió a la harina de auyama, se realizó un análisis bromatológico para cada materia prima y tratamiento. Posteriormente, se adelantó el análisis de carotenos totales, carbohidratos y calorías; para las variables materia seca (MS), cenizas, grasa, proteína cruda (PC), fibra detergente ácida (FDA) y fibra detergente neutra (FDN), se empleó un análisis de varianza y para la prueba sensorial, se aplicó la prueba Friedman, con 60 jueces. Al emplear los factores de conversión Atwater, los resultados indicaron que los materiales seleccionados para formular un prototipo de alimento deshidratado presentan bajo contenido de fibra detergente neutra (FDN) y fibra detergente ácida (FDA). La prueba de Friedman estableció que el mejor tratamiento para los 60 evaluadores fue el 6 seguido del 1, con la inclusión de harina de auyama del 15 y 20 %, respectivamente. Se concluye que, a partir de la inclusión de harina de hortaliza y de leguminosas es posible obtener un producto deshidratado con alto contenido de macronutrientes.

ABSTRACT Due to the content of macronutrients, micronutrients, and antioxidants, the intake of vegetables and legumes in the diet can reduce the risk of diseases, therefore, the objective of this research was to develop a prototype of dehydrated food based on butternut squash (Cucurbita moschata Duchense) enriched with protein sources from grains. six treatments were established using nine raw materials, varying the percentage of each of them, where the highest proportion corresponded to butternut squash, a bromatological analysis was carried out for each raw material and treatment. Subsequently, the analysis of total carotenoids, carbohydrates, and calories was carried out; for the variables dry matter (DM), ashes, fat, crude protein (CP), acid detergent fiber (ADF), and neutral detergent fiber (NDF), an analysis of variance was used and for the sensory test the Friedman test was performed with 60 judges. When using the Atwater conversion factors, the results indicated that the materials selected to formulate a dehydrated food prototype have a low content of neutral detergent fiber (NDF) and acid detergent fiber (ADF). The Friedman test established that the best treatment for the 60 evaluators was 6 followed by 1, with the inclusion of butternut squash at 15 and 20 %, respectively. It is concluded that, from the inclusion of vegetable and legume flour, it is possible to obtain a dehydrated product with a high content of macronutrients.

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.

We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease). Chromosomal microarray analysis was useful in identifying runs of homozygosity at 17q11.1-q21.33 and supporting the diagnosis of an underlying autosomal recessive condition. Sanger sequencing of NAGLU (17q21.2, MIM*609701) allowed us to identify a pathogenic homozygous p.(Arg234Cys) genotype. This NAGLU allele could be related to that previously described in an Iberian MPS IIIB founder haplotype; results from the polymorphic marker D17S800 and rs2071046 led us to hypothesize that it may have been introduced to Mexico through the Spanish settlement. The analysis of a clinical exome sequencing ruled out other monogenic etiologies for the previously undescribed clinical MPS IIIB manifestations. Our findings contribute to further delineating the MPS IIIB phenotype and suggest possible phenotype-genotype correlations.

Initiation and severity of experimental pancreatitis are modified by phosphate.

Proper mitochondrial function and adequate cellular ATP are necessary for normal pancreatic protein synthesis and sorting, maintenance of intracellular organelles and enzyme secretion. Inorganic phosphate is required for generating ATP and its limited availability may lead to reduced ATP production causing impaired Ca2+ handling, defective autophagy, zymogen activation, and necrosis, which are all features of acute pancreatitis. We hypothesized that reduced dietary phosphate leads to hypophosphatemia and exacerbates pancreatitis severity of multiple causes. We observed that mice fed a low-phosphate diet before the induction of pancreatitis by either repeated caerulein administration or pancreatic duct injection as a model of pressure-induced pancreatitis developed hypophosphatemia and exhibited more severe pancreatitis than normophosphatemic mice. Pancreatitis severity was significantly reduced in mice treated with phosphate. In vitro modeling of secretagogue- and pressure-induced pancreatic injury was evaluated in isolated pancreatic acini using cholecystokinin and the mechanoreceptor Piezo1 agonist, Yoda1, under low and normal phosphate conditions. Isolated pancreatic acini were more sensitive to cholecystokinin- and Yoda1-induced acinar cell damage and mitochondrial dysfunction under low-phosphate conditions and improved following phosphate supplementation. Importantly, even mice on a normal phosphate diet exhibited less severe pancreatitis when treated with supplemental phosphate. Thus, hypophosphatemia sensitizes animals to pancreatitis and phosphate supplementation reduces pancreatitis severity. These appear to be direct effects of phosphate on acinar cells through restoration of mitochondrial function. We propose that phosphate administration may be useful in the treatment of acute pancreatitis.NEW & NOTEWORTHY Impaired ATP synthesis disrupts acinar cell homeostasis and is an early step in pancreatitis. We report that reduced phosphate availability impairs mitochondrial function and worsens pancreatic injury. Phosphate supplementation improves mitochondrial function and protects against experimental pancreatitis, raising the possibility that phosphate supplementation may be useful in treating pancreatitis.

Proposed clinical approach and imaging studies in families with oculo-auriculo-vertebral spectrum to assess variable expressivity.

A diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral, and/or renal malformations. There is no consensus on which imaging studies should be used to rule out variable expressivity and distinguish "sporadic" from "familial" patients. This observational and descriptive study was performed in a Mexican population of 51 patients (32 males, 19 females, 0-18 years old) with microtia/OAVS, and their available parents. A clinical history, genealogy, and physical examination were obtained from all included patients, as were a computed tomography (CT) scan of the ear, audiological evaluation, orthopantomography, complete spine radiography, and renal ultrasound. The same approach was completed in their available parents (51 mothers and 40 fathers), excluding the CT scan and audiological evaluation. By genealogy, 53% of patients were classified as "sporadic"; of the "familial" patients, at least 79.1% had suggestion of a multifactorial inheritance. In the available parents, orthopantomography, complete spine X-ray, and renal ultrasound identified the following OAVS-related manifestations: HH (16.2%, n = 14/86), vertebral alterations (10.9%, n = 10/91), and renal anomalies (2.2%, n = 2/90). Our evaluation of the parents allowed three patients to be reclassified from "sporadic" to "familial" (5.8%, n = 3/51). Our proposed clinical and imaging approach allowed the identification of variable expressivity that more clearly distinguished between "sporadic" and "familial" OAVS patients, which is of utmost importance in providing proper genetic counseling to these families.