Urofacial (Ochoa) syndrome with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin.

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.

Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients.

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.

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.

Personalidad infantil y memoria auditiva inmediata en un grupo de escolares con rendimiento académico normal / Child personality and immediate auditory memory in a group of school children with normal academic performance

La Neurociencia de la Personalidad es un área de investigación de reciente desarrollo. Su objetivo es comprender la estructura y funcionamiento de la personalidad a partir de los desarrollos actuales en Neurociencias. En la actualidad, se han podido establecer relaciones significativas entre los diferentes factores de personalidad y algunos procesos cognitivos y el funcionamiento neuropsicológico en población clínicamente normal. Esta investigación tuvo como objetivo evaluar las correlaciones entre la personalidad infantil normal y la memoria auditiva inmediata en un grupo de escolares con rendimiento académico normal. Se evaluó un grupo de 36 niños con edades entre 6 y 8 años sin antecedentes personales de enfermedad neurológica, psiquiátrica o neuropsicológica, ni lesión cerebral congénita o adquirida, y sin antecedentes familiares de enfermedad neurológica o psiquiátrica. Se realizó un análisis estadístico de correlaciones y se establecieron los grados de correlaciones entre los tres tipos de memoria auditiva inmediata y cada uno de los 13 factores de personalidad infantil. Las correlaciones que fueron significativas para p < 0.05, R de Pearson, correspondieron a las presentadas entre el factor B (Inteligencia baja-alta) y la memoria lógica (.371), el factor C (Emoción inestable-estable) y la memoria asociativa (-.400), y el factor G (Despreocupado-Consciente) y la memoria numérica (.366). Los resultados del análisis de correlaciones se discuten a partir de algunas propuestas teóricas y conceptuales en Psicología Cognitiva y Neurociencia.

The Neuroscience of Personality is a research area of recent development. Its aim is to understand the structure and functioning of personality from current developments in neuroscience. At present, it has been able to establish meaningful relationships between different personality factors and some cognitive processes and neuropsychological functioning in clinically normal population. This research aimed to evaluate the correlations between normal childhood personality and immediate auditory memory in a group of school children with normal academic performance. We evaluated a group of 36 children aged between 6 and 8 years without a history of neurological disease, psychiatric or neuropsychological or congenital or acquired brain injury, and no family history of neurological or psychiatric disease. We performed a statistical analysis of correlations and the degrees of correlations established between the three types of immediate auditory memory and each of the 13 personality factors in children. The correlations that were significant at p < 0.05, R Pearson, corresponded to those presented between factor B (Intelligence low-high) and logical memory (371), the factor C (Emotion unstable-stable) and associative memory () .400), and factor G(Unconcerned–Conscious) and digital storage (366). The correlation analysis results are discussed from theoretical and conceptual proposals in cognitive psychology and neuroscience.

Apendicitis aguda causada por cuerpo extrano / Acute appendicitis due to foreign body

Se presenta un caso de apendicitis aguda causada por incrustacion de un gancho metalico en la pared del tercio medio del apendice, en una mujer de 84 anos, quien lo deglutio inadvertidamente