Predictors of overload in parents of children with neuromuscular diseases.

Introduction: Parents of children with neuromuscular diseases experience multiple difficulties in their daily lives that affect their physical and psychological health. The risk factors for these health issues have not been sufficiently investigated. Therefore, the aim of this study was to analyze the potential predictors of overload in these parents, including QoL, somatic symptomatology, life satisfaction, psychological adjustment and certain sociodemographic variables. Methods: A cross-sectional research study was conducted among parents who are caregivers for children with NMD in Spain. A convenience sample of 110 parents who were contacted by associations and hospitals was used. Variables were evaluated using the sociodemographic questionnaire, CarerQol-7D, PHQ-15, Barthel Index, Psychological Adaptation Scale, Zarit Overload Scale and Satisfaction with Life Scale. Results: One of the most relevant findings of the present study is the identification of 3 overload groups (mild to moderate, moderate to severe, and severe overload) based on life satisfaction and somatic symptom scores within the predictive model of the discriminate analysis. Wilk's lambda of the discriminant function was 0.568, χ2 (2, n = 55) = 8.815, p < 0.001. Discussion: This study presents a model that reveals the influence of unemployment, having a child with a severe level of dependency, the presence of somatic symptomatology and life satisfaction on caregiver overload. Likewise, the caregiver's self-esteem could be a protective factor against overload.

[Thermal radiofrequency of the medial genicular nerves in chronic pain related to degenerative meniscopathy. A clinical case]. / Radiofrecuencia térmica de las ramas geniculares mediales para dolor crónico en contexto de meniscopatía degenerativa. A propósito de un caso.

Persistent knee pain in patients around the fifth decade of life is a frequent cause of attention in rehabilitation consultations. The most common cause of diagnosis is knee osteoarthritis, considering the existence of different degrees seen in simple radiographies. The advanced degrees present joint space reduction, osteophytosis and subchondral sclerosis; however, in the initial degrees, the findings are more subtle and sometimes nonexistent for conventional radiology. Clinical ultrasound has partly come to fill this «diagnostic gap¼, making it possible to detect meniscal extrusions and small osteophytes as signs of incipient osteoarthritis and to relate them as triggers of pain. In clinical practice we find a group of patients who, with little or no radiological alterations, present persistent and severe pain with medial predominance in most cases. These, until the appearance of the current evidence, were subsidiaries of meniscectomies. At this moment, when meniscectomies are not recommended, it is necessary to find a treatment for those cases in which conservative and non-ablative interventional treatment has failed. In this context, the possibility of using radiofrequency arises. Its use is widespread in the case of tricompartmental and advanced osteoarthritis. However, little data is available on its usefulness in cases of medial meniscal extrusion. It seems that thermal radiofrequency has greater effects than pulsed radiofrequency. We present a clinical case where thermal radiofrequency of the medial genicular nerves of the knee is proposed as a therapeutic alternative for chronic pain secondary to medial meniscal extrusion associated with incipient knee osteoarthritis, with the result of a decrease in pain (VAS 8 before treatment, VAS 1 after one year), subjective improvement of 80% and gait capacity.

[Management optimization of neovascular age-related macular degeneration in Spain: Evolution towards proactive treatment models]. / Optimización del manejo de la degeneración macular asociada a la edad neovascular en España: evolución hacia modelos proactivos de tratamiento.

INTRODUCTION AND OBJECTIVE: Healthcare resources optimization is crucial to assume the growing demand of neovascular age-related macular degeneration (nAMD). This work provides guidelines and support so that each hospital can lead its change management. METHODS: The OPTIMUS project (n=10 hospitals) was based on face-to-face interviews with the key staff of the ophthalmology services, and alignment with the main responsible for each centre (nominal group) to identify potential needs for improving nAMD. The OPTIMUS nominal group was expanded to 12 centres (eVOLUTION). Through different remote work sessions, different guides and tools were defined and developed to implement proactive treatment strategies, one-step treatment administration and potential for remote visits (eConsult) in nAMD. RESULTS: The information collected from the OPTIMUS interviews and working groups (n=10 centres) defined roadmaps to promote the development of protocols and proactive treatment strategies, including healthcare workload optimization and one-stop treatment administration in nAMD. With eVOLUTION, processes and tools were developed to promote eConsult: (i) healthcare burden calculator; (ii) definition of potential patients for telematic management; (iii) definition of nAMD management archetypes; (iv) definition of processes for implementation of eConsult by archetype; and (v) key performance indicators for changing evaluation. CONCLUSIONS: Managing change is an internal task that requires an adequate diagnosis of processes and feasible implementation roadmaps. OPTIMUS and eVOLUTION provide the basic tools for an autonomous advance of hospitals in the optimization of AMD management, with the available resources.

Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.

The early introduction of a low phenylalanine (Phe) diet has been demonstrated to be the most successful treatment in subjects with phenylketonuria (PKU), especially for preventing severe cognitive and neurological damages. However, it still concerns that even if treated in the first months of life with supplements and following a diet, they can show slight scores below people without PKU in neuropsychological assignments. We investigated 20 adults with classical PKU aged 19-48 years (mean age 29 years) and 20 heathy controls matched by age, gender, and years of education. Patients and controls were assessed with an extended neuropsychological battery, as well as psychological aspects and quality of life, also the last Phe level result was obtained. Results showed that the most affected cognitive domains are processing speed, executive functioning, memory, and also theory of mind, but very well-preserved verbal fluency, language, and visuospatial functioning. In quality of life, some significant results were seen specially in anxiety of Phe levels, anxiety of Phe levels during pregnancy, guilt if poor adherence to supplements, and if dietary protein restriction not followed. No significant results were obtained for the psychological variables. In conclusion, it has been shown that a combination of a low Phe diet, supplement intake, and keeping Phe levels in a low range seems appropriate to have the most normal and alike cognitive performance to persons without PKU.

Inappropriate Hospital Admission According to Patient Intrinsic Risk Factors: an Epidemiological Approach.

BACKGROUND: Inappropriate hospital admissions compromise the efficiency of the health care system. This work analyzes, for the first time, the prevalence of inappropriate admission and its association with clinical and epidemiological patient characteristics. OBJECTIVES: To estimate the prevalence, associated risk factors, and economic impact of inappropriate hospital admissions. DESIGN AND PARTICIPANTS: This was a cross-sectional observational study of all hospitalized patients in a high complexity hospital of over 901 beds capacity in Spain. The prevalence of inappropriate admission and its causes, the association of inappropriateness with patients' intrinsic risk factors (IRFs), and associated financial costs were analyzed with the Appropriateness Evaluation Protocol in a multivariate model. MAIN MEASURES AND KEY RESULTS: A total of 593 patients were analyzed, and a prevalence of inappropriate admissions of 11.9% (95% CI: 9.5 to 14.9) was found. The highest number of IRFs for developing health care-related complications was associated with inappropriateness, which was more common among patients with 1 IRF (OR [95% CI]: 9.68 [3.6 to 26.2.] versus absence of IRFs) and among those with surgical admissions (OR [95% CI]: 1.89 [1.1 to 3.3] versus medical admissions). The prognosis of terminal disease reduced the risk (OR [95% CI]: 0.28 [0.1 to 0.9] versus a prognosis of full recovery based on baseline condition). Inappropriate admissions were responsible for 559 days of avoidable hospitalization, equivalent to €17,604.6 daily and €139,076.4 in total, mostly attributable to inappropriate emergency admissions (€96,805.3). CONCLUSIONS: The prevalence of inappropriate admissions is similar to the incidence found in previous studies and is a useful indicator in monitoring this kind of overuse. Patients with a moderate number of comorbidities were subject to a higher level of inappropriateness. Inappropriate admission had a substantial and avoidable financial impact.

Genotypes and Haplotypes in the AXIN2 and TCF7L2 Genes are Associated With Susceptibility and With Clinicopathological Characteristics in Breast Cancer Patients.

Background: Breast cancer is a multifactorial disease whose genetic susceptibility is related to polymorphic variants of cell proliferation and migration pathways. Variants in AXIN2 and TCF7L2 in the Wnt-ß catenin pathway have been associated with different types of cancer; however, little is known about its role in breast cancer. This study tests the hypothesis of links between AXIN2 rs1133683 and rs2240308, and TCF7L2 rs7903146 and rs12255372 variants in breast cancer. Methods: Peripheral blood samples were obtained from 404 women (202 patients and 202 control females). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology was used to identify the gene variants. Results: The AXIN2 rs2240308 (C > T), and TCF7L2 rs7903146 (C > T) and rs12255372 (G > T) variants were associated with breast cancer and with age, TNM stage, and histologic-molecular subtype (p = 0.001). Likewise, the haplotype T-T in the TCF7L2 gene (rs7903146-rs12253372) was significantly related with breast cancer (OR = 2.66, 95%, CI = 1.64-4.30, p = 0.001). Conclusion: Our data show a link between AXIN2 rs2240308 and TCF7L2 rs7903146 and rs12255372 variants in breast cancer, and speculate this may be important in pathogenesis.

Prevalence, characteristics, and impact of Adverse Events in 34 Madrid hospitals. The ESHMAD study.

INTRODUCTION: Adverse Events (AE) are one of the main problems in healthcare. Therefore, many policies have been developed worldwide to mitigate their impact. The Patient Safety Incident Study in Hospitals in the Community of Madrid (ESHMAD) measures the results of them in the region. METHODS: Cross-sectional study, conducted in May 2019, in hospitalised patients in 34 public hospitals using the Harvard Medical Practice Study methodology. A logistic regression model was carried out to study the association of the variables with the presence of AE, calibrated and adjusted by patient. RESULTS: A total of 9,975 patients were included, estimating a prevalence of AE of 11.9%. A higher risk of AE was observed in patients with surgical procedures (OR[CI95%]: 2.15[1.79 to 2.57], vs. absence), in Intensive Care Units (OR[CI95%]: 1.60[1.17 to 2.17], vs. Medical), and in hospitals of medium complexity (OR[CI95%]: 1.45[1.12 to 1.87], vs. low complexity). A 62.6% of AE increased the length of the stay or it was the cause of admission, and 46.9% of AE were considered preventable. In 11.5% of patients with AE, they had contributed to their death. CONCLUSIONS: The prevalence of AE remains similar to the previously estimated in studies developed with the same methodology. AE keep leading to longer hospital stays, contributing to patient's death, showing that it is necessary to put focus on patient safety again. A detailed analysis of these events has enabled the detection of specific areas for improvement according to the type of care, centre, and patient.

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.

INTRODUCTION: Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge to provide a diagnosis and psychological treatment for affected children. METHOD: The main objective of this study was to describe a form of music therapy treatment applied to three children diagnosed with MPS III. The psychological variables were evaluated by an ad hoc observation recording template, and the physiological variables were measured with a digital meter before and after each session. The perception of the parents was also considered through a semi-structured interview. RESULTS: An improvement in the psychological variables was shown in all cases. Changes in the physiological variables were also noted, although they varied according to each child. The parents report some benefit of music therapy and they share difficulty in assessing the extent of benefits of the music therapy. DISCUSSION: Findings indicate that music therapy can be a useful form of treatment with multiple benefits for children with conditions such as MPS III or similar conditions. However, further research is needed in this area and in the development of specific ways of evaluating music therapy.

Cross-cultural adaptation and validation of the neurogenic bladder symptom score for Spanish speakers.

AIM: To perform a cross-cultural adaptation and validation of the Neurogenic Bladder Symptom Score (NBSS) to Spanish in patients with neurogenic lower urinary tract dysfunction. MATERIALS AND METHODS: The questionnaire was culturally adapted according to international guidelines. It was applied, twice in a range of 14-28 days. Psychometric properties were tested such as content validity, construct validity, internal consistency, and test-retest reliability. RESULTS: A total of 82 patients between 18 and 78 years old (mean age of 43.9) participated in the study, and completed the first NBSS assessment; only 39 (32.19%) performed the test-retest study. The internal consistency was tested by Cronbach α with a result of 0.86 (95% CI, 0.81-0.90). The reliability was tested by interclass correlation coefficient with a result of 0.91 [0.87-0.95] (p < 0.0001). The construct validity was tested by Pearson correlation between NBSS and Qualiveen-SF, which showed a moderate correlation with a result of 0.57 (p < 0.0001). One-way analysis of variance with trend analysis demonstrated that patients who reported having a more severe problem with their bladder function had a higher NBSS total score (p < 0.001). CONCLUSION: The results of this study demonstrated that the Spanish version of the NBSS has a good internal consistency and reliability, proving its applicability.

Gastrointestinal microbiome, what is behind faecal microbiota transplantation?

The intestinal microbiota is made up of billions of microorganisms that coexist in an organised ecosystem, where strict and facultative anaerobic bacteria predominate. The alteration or imbalance of these microorganisms, known as dysbiosis, can be associated with both gastrointestinal and extraintestinal diseases. Based on a review of the literature, the intestinal microbiota is described in its state of health, the changes associated with some gastrointestinal diseases and the potential role that faecal microbiota transplantation has in the reestablishment of an altered ecosystem. Undoubtedly, the information revealed makes us reflect on the indication of faecal microbiota transplantation in various pathologies of intestinal origin. However, to ensure the efficacy and safety of this therapy, more studies are needed to obtain more evidence.

Ketogenic diet and cognition in neurological diseases: a systematic review.

CONTEXT: In recent years, the ketogenic diet has gained special relevance as a possible therapeutic alternative to some neurological and chronic diseases. OBJECTIVE: The aim of this systematic review was to answer the following question: Does a ketogenic diet improve cognitive skills in patients with Alzheimer's disease, Parkinson's disease, refractory epilepsy, and type 1 glucose deficiency syndrome? To define the research question, the PICOS criteria were used, following the guidelines of the PRISMA method. DATA SOURCES: Medline/PubMed, Elsevier Science Direct, Dialnet, EBSCOhost, Mediagraphic, Sage Journals, ProQuest, and Wiley Online Library databases were used. DATA EXTRACTION: After applying inclusion and exclusion criteria in accordance with the PRISMA method, a total of 63 entries published between 2004 and 2019 were used. DATA ANALYSIS: The records extracted were analyzed from a qualitative approach, so no statistical analysis was carried out. CONCLUSION: Although scientific literature on the subject is scarce and there has tended to be a lack of scientific rigor, the studies reviewed confirmed the effectiveness of this diet in improving the cognitive symptomatology of the aforementioned diseases.

Decontamination of filtering facepiece respirators using a low-temperature-steam-2%-formaldehyde sterilization process during a pandemic: a safe alternative for re-use.

BACKGROUND: The coronavirus disease 2019 pandemic has caused problems with respirator supplies. Re-use may minimize the impact of the shortage, but requires the availability of an efficient and safe decontamination method. AIM: To determine whether low-temperature-steam-2%-formaldehyde (LTSF) sterilization is effective, preserves the properties of filtering facepiece (FFP) respirators and allows safe re-use. METHODS: Fourteen unused FFP2, FFP3 and N95 respirator models were subjected to two cycles of decontamination cycles. After the second cycle, each model was inspected visually and accumulated residual formaldehyde levels were analysed according to EN 14180. After one and two decontamination cycles, the fit factor (FF) of each model was tested, and penetration tests with sodium chloride aerosols were performed on five models. FINDINGS: Decontamination physically altered three of the 14 models. All of the residual formaldehyde values were below the permissible threshold. Irregular decreases and increases in FF were observed after each decontamination cycle. In the sodium chloride aerosol penetration test, three models obtained equivalent or superior results to those of the FFP classification with which they were marketed, both at baseline and after one and two cycles of decontamination, and two models had lower filtering capacity. CONCLUSION: One and two decontamination cycles using LTSF did not alter the structure of most (11/14) respirators tested, and did not degrade the fit or filtration capacity of any of the analysed respirators. The residual formaldehyde levels complied with EN 14180. This reprocessing method could be used in times of shortage of personal protective equipment.

[Copeman nodules, a frequent but little known cause of low back pain; case report]. / Nódulos de Copeman, una causa frecuente pero poco conocida de dolor lumbar: presentación de un caso.

Copeman nodules or episacral lipomas are a very prevalent entity in the general population. They consist of subfascial fat herniations at the episacral region, through weakened areas of the overlying thoracodorsal fascia. They are usually bilateral and symmetric. Only in rare cases they are the cause of clinical manifestations. We present the case of a 63-year-old woman who presents with lumbar pain refractory to conventional treatments. Ultrasound examination suggests the diagnosis of Copeman nodules. The treatment of the patient is approached from a multidisciplinary perspective, finally deciding to operate the patient. After the intervention, the symptoms remitted shortly, allowing the patient to continue a normal life without discomfort or analgesic treatment.

Prevalence of enteroparasitic infections and related hormonal and immunological repercussions that may compromise students' physical performance.

The aim of this study was to evaluate the prevalence of enteroparasitic infections in students and their hormonal and immunological repercussions on physical development. Students of basic education of both sexes were evaluated. Parasitological stool tests were performed using the Hoffman and Kato-Katz methods. The students were divided into two groups: a control group (negative parasitological examination, N=25) and an infected group (positive parasitological test, N=25). Anthropometric variables (height, weight, and BMI), concentrations of hormones (melatonin and cortisol), cytokine/chemokine levels (IL-1ß, IL-6, IL-8, IL-10, IL-12, IL-17 and TNF-α) and physical performance (aerobic capacity, upper- and lower-limb muscle strength and abdominal performance) were evaluated. The prevalence of parasitic infection among the students was 7.98%. No anthropometric differences were observed among the groups. IL-2 and TNF-α levels were higher and IL-8 levels were lower in serum from students who were positive for parasitic infection. Serum from students who were positive for parasitic infection showed higher levels of melatonin than that from parasitenegative students. No differences were observed in cortisol levels. Students who were positive for parasitic infection presented greater lower-limb strength and lower abdominal performance than parasite-negative students. In the parasitic infection group, IL-12 was positively correlated with melatonin. In the parasitic infection group, IL-8 showed a positive correlation with aerobic capacity, while IL-17 and TNF-α showed a positive correlation with abdominal performance. These data suggest that parasitic infections determine the profile of inflammatory cytokines and that melatonin may be involved in the control of this process to minimize tissue damage. Additionally, students' difficulty in practising physical exercises can be an indication of enteroparasitic infection.

[Nail trauma, what is it? and how to treat it?] / Traumatismo ungueal, ¿qué es? y ¿cómo tratarlo?

The nail plate is a layer of keratin that protects the back of the ends of the fingers and toes. It is a system with many important functions, since it stabilises the distal portion of the finger and toe and provides resistance to the fleshy part, thus contributing to the handling of small objects and fine sense of touch. Nail injuries are a reason for visits to Emergency Departments and Primary Care, representing up to 8% of hand emergencies. The inappropriate treatment of these injuries can lead to important aesthetic and functional sequelae. These can be very complex even to correct later (dystrophic nails, decrease in discrimination between 2 points…). The 2 most common lesions are subungual haematoma and subungual avulsion, with their different degrees of adjacent bone involvement.

Comparison of sleep and chronotype between senior and undergraduate university students.

The university programs for seniors provide a third age perspective in lifelong learning with classes and recreational facilities, and enable students to share their experiences and knowledge. A good sleep quality promotes better cognitive functioning and serves to protect against age-related cognitive declines. Central nervous system reorganization takes place during sleep, and although the influence of sleep quality on memory is not clear, circadian rhythm disorders affect alertness and individual performance. Physiological change during aging need to be clarified to better understand how university might help students. The aim of the present study was to evaluate for the first time the chronotype, the sleep quality and their relationship in senior university students and to compare them with those of undergraduate students. The Morningness-Eveningness Questionnaire (MEQ) and the Pittsburgh Sleep Quality Index (PSQI) were used. The results indicated that approximately 50% of the participants were good sleepers. This percentage was equal in the senior and undergraduate students. The results showed that undergraduate students tended toward eveningness while senior students tended toward morningness. Among the undergraduate students, evening type chronotypes had a tendency toward higher PSQI scores and this affected their daytime function scores, while it did not in the senior students, in whom worsening sleep quality was associated with disturbances such as going to the bathroom and nocturnal awakening. This information would be useful for designing environmental interventions to optimize sleep/work cycles for decreasing age-associated changes in memory in senior students and for improving the academic achievements of undergraduate students.

Intestinal parasitism and nutritional status among indigenous children from the Argentinian Atlantic Forest: Determinants of enteroparasites infections in minority populations.

OBJECTIVE: Intestinal parasitoses, especially in the less favored populations of tropical and subtropical areas, are a scourge of high impact in public health. We conducted a cross-sectional survey to investigate the prevalence of helminths and protozoa pathogens, malnutrition, and their determinants in children from indigenous Mbyá Guaraní villages of Iguazú, in the subtropical Atlantic Forest of Argentina. METHODS: Parasitological assessment was performed using a combination of flotation, sedimentation, and centrifugation techniques, as well as temporal and permanent stains. Nutritional assessment was based on nutritional indicators derived from anthropometric measurements. Statistical analysis of socio-demographic determinants was assessed by Generalized Linear Mixed Models at individual, household, and village levels. RESULTS: A total of 303 children from 140 families from Fortin Mbororé and Yriapú Jungle villages participated, and 87.8% of them resulted positive to at least one parasite. Multiparasitism reached 70% and children with up to six different parasites were detected. Thirteen genera were identified, of which eight were pathogenic. The most frequent soil-transmitted helminths were hookworms and Strongyloides stercoralis with 60.7 and 41.9%, respectively. Enterobius vermicularis was detected in 28.4% of children. Giardia duodenalis was the main protozoan and reached the 33.3%. The prevalence of stunting and underweight were 38.9% and 6.9%, whereas for overweight and obesity were 28.1% and 12.9%, respectively. An association was observed between stunting in older children and the presence of parasites, multiparasitism, and giardiasis. Individual conditions and habits were important determinants for most of the parasitoses. CONCLUSIONS: We evidenced that the community is affected by the double burden of malnutrition and parasitoses. To face this alarming situation, public policies are needed to improve sanitation, hygiene education access, community deworming programs, and quality nutrition on a regular basis of intercultural approaches.

Descripción de casos registrados en el Centro Nacional de Toxicología (MSPyBS) por exposición debida a incendio de transformadores fuera de uso / Description of cases registered at the National Toxicology Center (MSPyBS) for exposure due to a fire of discarded transformers

En octubre de 2015 el depósito de transformadores fuera de uso de la Administración Nacional de Electricidad (ANDE) ubicado en San Lorenzo (Paraguay), sufrió un incendio de gran magnitud, con destrucción de transformadores, condensadores, y otros materiales que pudieron contener bifenilopoliclorados (PCBs), considerados compuestos orgánicos persistentes, de baja toxicidad aguda, clasificados como cancerígenos (Grupo1) por la Agencia Internacional para la Investigación sobre el cáncer (IARC). Niveles de PCBs en plasma son considerados biomarcadores de exposición al agente químico. El objetivo del trabajo fue describir los casos toxicológicos por exposición al incendio de transformadores fuera de uso, según síntomas manifestados, actividades relacionadas al incendio y resultados del biomarcador de exposición. En este estudio observacional descriptivo de corte transversal, se estudiaron 190 historias clínicas del Centro Nacional de Toxicología (CNTox), hasta 29 días posteriores al incendio, que contaban con resultados del biomarcador determinado por GC/MS. Se detectó el biomarcador hasta 13 días después del incendio. Se observaron niveles plasmáticos de PCBs: <1 ng/ml en 86,84% (165/190) y ≥1 ng/ml 13,16% (25/190). No se registraron casos de cloracné. Pacientes asintomáticos constituyeron 48,94% (93/190), con detección del biomarcador en 56% (14/25). Pacientes con síntomas constituyeron 51,06% (97/190) con detección del biomarcador en 44% (11/25). Teniendo en cuenta la actividad de los pacientes con PCB detectado en plasma fueron bomberos 88% (22/25). Pacientes asintomáticos con niveles detectables de PCBs en plasma como biomarcador de exposición, describe la complementación de datos clínicos con los laboratoriales(AU)

Evolution and genomics of the human brain. / Evolución y genómica del cerebro humano.

Most living beings are able to perform actions that can be considered intelligent or, at the very least, the result of an appropriate reaction to changing circumstances in their environment. However, the intelligence or intellectual processes of humans are vastly superior to those achieved by all other species. The adult human brain is a highly complex organ weighing approximately 1500g, which accounts for only 2% of the total body weight but consumes an amount of energy equal to that required by all skeletal muscle at rest. Although the human brain displays a typical primate structure, it can be identified by its specific distinguishing features. The process of evolution and humanisation of the Homo sapiens brain resulted in a unique and distinct organ with the largest relative volume of any animal species. It also permitted structural reorganization of tissues and circuits in specific segments and regions. These steps explain the remarkable cognitive abilities of modern humans compared not only with other species in our genus, but also with older members of our own species. Brain evolution required the coexistence of two adaptation mechanisms. The first involves genetic changes that occur at the species level, and the second occurs at the individual level and involves changes in chromatin organisation or epigenetic changes. The genetic mechanisms include: a) genetic changes in coding regions that lead to changes in the sequence and activity of existing proteins; b) duplication and deletion of previously existing genes; c) changes in gene expression through changes in the regulatory sequences of different genes; and d) synthesis of non-coding RNAs. Lastly, this review describes some of the main documented chromosomal differences between humans and great apes. These differences have also contributed to the evolution and humanisation process of the H. sapiens brain.