RESUMEN
Urofacial syndrome or Ochoa syndrome (UFS or UFOS) is a rare disease characterized by inverted facial expression and bladder dysfunction that was described for the first time in Colombia. It is an autosomal recessive pathology with mutations in the HPSE2 and LRIG2 genes. However, 16% of patients do not have any mutations associated with the syndrome. Despite the importance of neurobiology in its pathophysiology, there are no neurological, neuropsychological, or psychological studies in these patients. A 30-year-old male from Medellín, Colombia, with a significant perinatal history, was diagnosed with grade 4 hydronephrosis on his first ultrasound test. At 4 months of age, symptoms such as hypomimia, lagophthalmos, and recurrent urinary tract infections started to manifest. Imaging studies revealed urinary tract dilatation, vesicoureteral reflux, and a double collector system on his left side, which led to the diagnosis of UFS. Multiple procedures, including vesicostomy, ureterostomy, and enterocystoplasty, were performed. At 20 years of age, he achieved urinary sphincter control. Genetic analysis revealed a founder pathogenic variant, c.1516C > T (p.Arg506Ter), in the HPSE2 gene, which produces a truncated protein that lacks 86 amino acids. This variant is classified as pathogenic according to the ClinVar database for UFS. The mutation age is approximately 260-360 years, and the two alleles share a 7.2-7.4 Mb IBD segment. Moreover, we detected European local ancestry in the IBD segment, which is consistent with a Spanish introduction. Neurological examination, neuropsychological assessment, and psychological testing revealed no abnormalities, except for high stress levels. Clinical analysis of this patient revealed distorted facial expression and detrusor-sphincter dyssynergia, which are typical of patients with UFS. Genetic analysis revealed a pathogenic variant in the HPSE2 gene of European origin and a mutation age of 260-360 years. From a neurological, neuropsychological, and psychological (emotional and personality) perspective, the patient showed no signs or symptoms of clinical interest.
RESUMEN
BACKGROUND: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid transport, and it helps maintain the homeostasis of the stratum corneum of the epidermis. However, due to the wide spectrum of genetic alterations that can cause ichthyosis, holistic medical care, and genetic studies are required to improve the diagnosis and outcomes of these diseases. CASE PRESENTATION: Here, we presented the case of a 19 years old male patient who was a premature infant and exhibited clinical features consistent with HI, including bright yellow hyperkeratotic plates with erythematous fissures that covered his entire body like a collodion baby. Currently, he exhibited erythroderma, photosensitivity, ectropion, auricular pavilion alterations, and musculoskeletal disorders, such as equinovarus feet, fingers, hands, and hypoplastic feet with contractures in flexion and marked difficulty in fine motor skills. In addition, he presented dyschromatopsia, Achilles reflex hyporeflexia, slight speech, dental alteration and deficient cognitive performance. After the genetic sequencing, variants were found in ABCA12 and HRNR which are related to several skin diseases, including ichthyosis. CONCLUSIONS: Although in clinical practice, ichthyosis is a common entity, a severe type of ichthyosis is presented, highlighting the importance of appropriate genetic diagnosis, given the broad spectrum of genetic alterations with similar phenotypic and clinical characteristics. These pathologies must be known to guarantee initial support measures to prevent complications and offer multidisciplinary management to those patients.
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Ictiosis LamelarRESUMEN
BACKGROUND: This research article addresses the relationships among personality, risk perception, and health perception. The personality construct has been one of the main topics of research in psychology throughout history and is understood as the set of traits or cognitive, affective and behavioral characteristics that an individual possesses. Important relationships have been found that show the impact of personality on people's health as well as the impact of health conditions on the configuration of personality. This research investigates the perception of risk as a mediating trait between personality and perception of health. MATERIALS AND METHODS: To achieve this, a cross-sectional study was conducted in which 398 Colombians from all regions of the country were evaluated. The NEO Five Factor Inventory (NEO-FFI), The General Health Questionnaire (GHQ-12) and Health Risk Perception Test (HRPT) tests were used. RESULTS: The data were analyzed with multiple regression and path analysis. The findings using multiple regression show that neuroticism and the personal meaning of risk affect the perception of health; however, using path analysis, model fit with the proposed model was not achieved with no mediator effect of perception of risk. CONCLUSION: It is necessary to focus on relationships between neuroticism and perception of health in future research.
RESUMEN
La vida universitaria implica retos personales, sociales, académicos e institucionales a los que los estudiantes deben adaptarse no sólo para lograr el éxito académico sino también para garantizar una buena salud física y mental durante la carrera. Este periodo puede estar influenciado por situaciones estresantes que pueden afectar a nivel personal y académico. El objetivo del presente estudio fue determinar, mediante un análisis con ecuaciones estructurales, si diversas estrategias de regulación cognitivo-emocional y el apoyo social percibido, actúan como mediadores del efecto del estrés sobre la adaptación a la vida universitaria en 555 estudiantes universitarios colombianos (437 mujeres, 78,7%) con edades comprendidas entre los 16 y los 49 años (M= 22,83; DT = 4,774). Los resultados muestran que las estrategias de regulación cognitivo-emocional positiva (Focus y Reappraisal), negativa (Rumiación, Autoculpabilización y Culpar a otros) y el apoyo social son mediadores del efecto del estrés sobre la adaptación a la vida universitaria.(AU)
University life involve personal, social, academic, and institu-tionalchallenges to which the students must adapt not only to achieve aca-demic successbut also to guarantee a good physical and mental health dur-ing the career. Thisperiod can be influenced by stressful situations that can affect at personal andacademic level. The objective of the present study was to determine, through ananalysis with structural equations, whether various cognitive-emotional regulationstrategies and perceived social sup-port, act as mediators of the effect of stress onadaptation to university life in 555 Colombian university students (437 women,78.7%) with ages from 16 to 49 years (M = 22.83; SD = 4.774). The results showthat the cogni-tive-emotional regulation strategies positive (Focus andReappraisal), nega-tive (Rumination, Self-blame and Blaming others) and socialsupportaremediators oftheeffect ofstresson adaptationto universitylife.(AU)