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Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole-exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right-sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30-fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole-genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion.
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Fenda Labial , Fissura Palatina , Cárie Dentária , Masculino , Humanos , Fenda Labial/diagnóstico , Fenda Labial/genética , Fissura Palatina/diagnóstico , Fissura Palatina/genética , Sequenciamento do Exoma , Hibridização Genômica Comparativa , SíndromeRESUMO
Morphea en coup de sabre and progressive hemifacial atrophy are extremely rare connective tissue disorders causing facial deformity. In extreme cases, morphological disorders are accompanied by symptoms of a clear impairment of the stomatognathic system. The aetiology of the above-mentioned diseases is still unknown. Properly planned therapy in the field of maxillofacial orthopaedics makes it possible to correct the asymmetric pattern of hard tissue growth and thus enable rehabilitation. The task of augmentation techniques is the volumetric supplementation of tissue defects resulting from atrophic processes. The degree of destruction and the extent of changes determine the method of correction. Mild and moderate defects are treated mainly with biomaterials and autologous adipose tissue. The severe course of hemifacial atrophy and morphea en coup de sabre and the associated significant tissue atrophy necessitate the search for more complex methods of treatment. In this paper, we summarize the disturbances of the stomatognathic system in patients with craniofacial morphea, together with an analysis of current treatment options.
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OBJECTIVE: This cross-sectional study aimed to assess the stress outcomes in health-care staff working during the COVID-19 pandemic and to explore the role of coping in the relationship between stress outcomes and mental health dimensions with Preacher & Hayes's mediation analysis. SUBJECTS AND METHODS: One hundred seventy participants including physicians (n = 41; 24.1%), nurses (n = 114, 67.1%), and paramedics (n = 15, 8.8%) with a mean age of 37.69 ± 12.23 years and an average seniority of 14.40 ± 12.32 years were administered the Toronto Alexithymia Scale-20, Cohen's Perceived Stress Scale (PSS-10), the Emotional Processing Scale, and Positive and Negative Affect Schedule. The data were analyzed by estimation of simple correlation coefficients and a Preacher and Hayes's mediation procedure. RESULTS: Participants reported elevated levels of stress (7-8 sten on the sten scale developed for the PSS-10 questionnaire). Statistically significant differences in the stress levels between nurses, paramedics, and physicians could not be determined. In contrast, significant association between mental health outcomes and the occupational category could not be found. CONCLUSION: Our observations support the assumption about a controlling role of coping in the relationship between work-related stress, alexithymia, emotional processing loneliness and positive/negative affect in medical staff working amid pandemic.
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Adaptação Psicológica , COVID-19/terapia , Pessoal de Saúde/psicologia , Saúde Mental , Estresse Psicológico/prevenção & controle , Adulto , Sintomas Afetivos , Estudos Transversais , Emoções , Feminino , Humanos , Solidão , Masculino , Pandemias , Escalas de Graduação Psiquiátrica , SARS-CoV-2RESUMO
OBJECTIVE: Ego-resiliency is attributed the status of a "meta resource" that is responsible for a flexible selection of coping strategies depending on the requirements of a specific difficult situation. A considerably burdensome critical life event is the development of a chronic illness such as rheumatoid arthritis (RA). Apart from coping with the symptoms, a fundamental task confronting patients is maintaining their quality of life. This raises the question of whether ego-resiliency serves as a mediator between coping strategies and quality of life. MATERIALS AND METHODS: 210 RA patients were invited to participate in this study. They were requested to complete a questionnaire that included the Satisfaction with Life scale, the stress coping inventory Mini-COPE, and the Ego-Resiliency scale. The collected data were analyzed by a simple mediation procedure and estimation of simple correlation coefficients. RESULTS: The analysis demonstrated that ego-resiliency (r = 0.46; p < 0.001) and emotion-focused coping (r = 0.39; p < 0.001) determined life satisfaction. Additionally, ego-resiliency mediated the relation between emotion-oriented coping strategies and life satisfaction. Partial mediation was observed (a = 0.45**; b = 0.36**; c = 0.39**; c' =0.22**; R2 = 0.24; F = 35.65; p < 0.001). CONCLUSION: Our observations partly support the assumption about a controlling role of ego-resiliency in the process of selecting coping strategies according to demands of situations.
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Adaptação Psicológica , Artrite Reumatoide/psicologia , Ego , Satisfação Pessoal , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Inquéritos e QuestionáriosRESUMO
BACKGROUND The person with dementia should be treated as an unique person regarding symptoms directly associated with dementia, such as problems with memory, hallucinations, and delusions, as well as other physical, mental, or neurological deficits. The symptoms not directly typical of dementia, such as musculoskeletal disorders or depression, should be also be considered in order to improve the quality of life of a person with dementia. That is why professional caregivers have to broaden their current knowledge not only of medical symptoms but also of the patient's psychosocial condition and increase their inquisitiveness about the individual condition of the patient. The aim of the study was to get to know the opinion of professional caregivers about the UnderstAID platform and its usefulness for informal caregivers. MATERIAL AND METHODS Participants in the study group consisted of professional caregivers: nurses, sociologists, psychologists, physiotherapists, and occupational therapists, all of whom specialized in geriatrics and had experience in working with people with dementia. All professional caregivers answered 24 questions that refer to positive and negative aspects of the UnderstAID platform. RESULTS The study group of professional caregivers highly appreciated that the application could give support to caregivers (mean score of 4.78; 5 points means that they totally agreed, and 1 point means that they totally disagreed) and that a wide range of multimedia materials helped the informal caregivers to gain a better understanding of the contents (mean score of 4.78). There was a statistically significant correlation between the age of the professional caregivers and the frequency of positive opinions that the UnderstAID application gave support to caregivers of relatives with dementia (p=0.028) and the opinion that videos, photos, and pictures may help the informal caregivers to gain a better understanding of the contents (p=0.028). CONCLUSIONS A group of professional caregivers positively assessed the UnderstAID platform. Caregivers, especially older caregivers, highly appreciated the usefulness of videos, photos, and pictures for gaining a better understanding of the contents.
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Atitude do Pessoal de Saúde , Cuidadores/psicologia , Adulto , Demência , Depressão/psicologia , Educação Médica/métodos , Tecnologia Educacional/métodos , Feminino , Humanos , Masculino , Memória , Pessoa de Meia-Idade , Qualidade de Vida/psicologia , Estresse PsicológicoRESUMO
BACKGROUND: Children with Down syndrome (DS) present with delays in motor development. The reduced size of the cerebrum, brain maturation disorders, and pathophysiological processes lead to motor development delay. The aim of this study was to examine the gross motor function and estimate what motor abilities are significantly delayed in children with Down syndrome even if they attend physical therapy sessions. Another purpose of the study was to assess the functional balance. MATERIAL AND METHODS: The study group consisted of 79 children with DS (42 boys, 37 girls), average age 6 years and 3 months ± 4 years and 6 months. Participants were divided into 3 groups according to (i) age: <3 years old, 3-6 years old, and >6 years old; and (ii) motor impairment scale: mild (SNR 1), moderate (SNR 2), and severe (SNR 3). Children were assessed using the Gross Motor Function Measure-88 (GMFM-88) and Pediatric Balance Scale (PBS). RESULTS: None of the assessed children developed all the functions included in GMFM-88. The standing position was achieved at the specified age by 10% of children in the first age group (<3 years old) and 95% of children aged 3-6 years. Similarly, the walking ability was performed by 10% of children under 3 years old and by 95% of children aged 3-6 years. The median score of PBS was 50 points (min. 34 p. - max. 56 p.). There was a statistically significant correlation between PBS scores and GMFM-88 scores, r=0.7; p<0.0001, and between balance scores and GMFM - 88 E (walking, running, jumping) (r=0.64; p<0.0001). CONCLUSIONS: Motor development, especially standing position and walking ability, is delayed in children with Down syndrome. Balance and motor functions are correlated with each other, so both aspects of development should be consider together in physical therapy of children with Down syndrome.
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Deficiências do Desenvolvimento/fisiopatologia , Síndrome de Down/fisiopatologia , Criança , Feminino , Humanos , MasculinoRESUMO
AIM: Depressive disorders, which remain one of the most common and recurrent mood disorders worldwide, presently affect up to 15% of the population under age 25. Adolescent depression is related to a number of adverse phenomena such as scholastic/academic failure, juvenile delinquency, illicit substance abuse or suicide. Studies show that students are at a high risk of developing this disorder but depression in this population is often misdiagnosed and undertreated. Consequently, it is important to develop reliable diagnostic tools to evaluate symptoms of depression in students. Kutcher Adolescent Depression Scale (brief version) is a commonly used screening test used to identify young people at risk for depression, which consists of six items related to its main symptoms. The aim of the study was to adapt and test reliability and content validity of the Polish version of six - item Kutcher's KADS based on analysis of students using confirmatory factor analysis. MATERIAL AND METHODS: A total of 1,589 student aged 18-24 anonymously answered a questionnaire on the risk of depression (KADS) and a demographics survey. RESULTS: Confirmatory factor analysis showed the good fit of model to empirical data: SB χ² (15) = 968.688, p < .001, RMSEA = .053, CFI = .958, SRMR = .029. Factor loading ranged from .40 to .80. CONCLUSIONS: Validation of Polish version of KADS in a group of students aged 18-24 years has shown its high reliability and content validity. Further studies should be focused on the assessment of the questionnaire criterion validity.
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Depressão/diagnóstico , Transtorno Depressivo/diagnóstico , Autoavaliação Diagnóstica , Estudantes/psicologia , Inquéritos e Questionários/normas , Adolescente , Feminino , Humanos , Masculino , Polônia , Psicologia do Adolescente , Psicometria , Reprodutibilidade dos Testes , Estudantes/estatística & dados numéricos , Adulto JovemRESUMO
Triple-negative breast cancer (TNBC) refers to about 15-20% of all breast cancer cases. It is characterized by worse clinical outcome, poor prognosis, and absence of prognostic indicators. Several polymorphisms in the nucleotide excision repair (NER) and base excision repair (BER) gene have been extensively studied in association with various human cancers. The aim of this study was to evaluate the role of the hOGG1-Ser326Cys (rs13181), XRCC1-Arg194Trp (rs1799782), and ERCC2-Lys751Gln (rs13181) gene polymorphisms with clinical parameters and the risk for development of triple-negative breast cancer. Our research included 70 patients with TNBC and 70 healthy controls. Gene polymorphisms were genotyped by the PCR-RFLP (restriction fragment length polymorphism) method. The genotype distributions were contrasted by the chi-square test, and the significance of the polymorphism was assessed by multiple logistic regression producing odds ratios (ORs) and 95% confidence intervals (CIs). In the present work, a relationship was identified between ERCC2-Lys751Gln polymorphism and the incidence of triple-negative breast cancer. An association was observed between triple-negative breast carcinoma occurrence and the presence of Gln/Gln genotype (OR = 5.71 (2.12-5.43), p = 0.0007). A tendency for an increased risk of TNBC was detected with the occurrence of 751Gln allele of ERCC2 polymorphism. No significant associations between Ser326Cys and Arg194Trp genotype and TNBC were observed. We suggest that the Lys751Gln polymorphism of the ERCC2 gene may be risk factors for triple-negative breast cancer development in Polish women.
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DNA Glicosilases/genética , Proteínas de Ligação a DNA/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Neoplasias de Mama Triplo Negativas/genética , Proteína Grupo D do Xeroderma Pigmentoso/genética , Adulto , Idoso , Feminino , Genótipo , Humanos , Modelos Logísticos , Pessoa de Meia-Idade , Polônia , Polimorfismo de Fragmento de Restrição , Neoplasias de Mama Triplo Negativas/etiologia , Proteína 1 Complementadora Cruzada de Reparo de Raio-XRESUMO
AIM: Rheumatoid arthritis is one of the most severe chronic diseases. In many cases it leads to disability and results in a decreased quality of life and increased levels of anxiety and depression. The problem that needs to be addressed is the following: which mental processes lead to increased levels of depression in patients with rheumatoid arthritis? METHODS: 210 patients with rheumatoid arthritis hospitalized in rheumatology wards took part in the research. They filled in illness perception questionnaires (IPQ-R) and questionnaires for testing strategies of handling stress (Mini-COPE) and the level of depression (CES-D). RESULTS: The observed correlation coefficients indicate that several elements of the perception of one's disease moderately contribute to a high level of depression. Moreover, frequent use of dysfunctional coping strategies contributed to high levels of depression. Dysfunctional coping was moderately linked to depression. CONCLUSION: The conducted analyses confirmed the links between the beliefs about the disease and levels of depression and showed that the use of dysfunctional coping strategies mediates the relationship between the following elements of the representation of the disease: illness coherence, emotional representation, psychological attribution, risk factors, and the level of depression.
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Adaptação Psicológica , Artrite Reumatoide/complicações , Artrite Reumatoide/psicologia , Cultura , Depressão/etiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Ansiedade/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Personality determinants are an important predicator of road behaviors in drivers. The main objective of the study was to determine the relationship between personality determinants (neuroticism, extraversion, level of anxiety - features) and distinguishable risky behaviors of drivers of medical transport vehicles. MATERIAL AND METHODS: The study covered 106 male drivers from the Wielkopolskie Voivodeship, working in health care, having a license to drive emergency vehicles. To achieve the research objectives a questionnaire was developed and applied. It concerned risky road behaviors among drivers of medical transport. The personality suitability was determined using the questionnaire methods on self-assessment: Polish versions of Eysenck Personality Questionnaire - Revised (EPQ-R) and the State-Trait Anxiety Inventory (STAI) questionnaire. RESULTS: It was shown that drivers with introverted characteristics declare driving vehicles of reduced technical efficiency more often than extroverts. The level of the anxiety as a trait A-characteristic affects the display of distracting behaviors, making decisions about driving a vehicle that is inefficient, driving in a bad psychophysical condition, as well as maintaining too small distance from the preceding vehicle. The higher the intensity of anxiety characteristics, the higher the intensity of given behaviors. CONCLUSIONS: Based on the study results, it can be assumed that there is a relationship between determinants of personality and the display of risky behaviors of drivers of medical transport vehicles. Thus it can be concluded that the level of extraversion and anxiety as a trait are the differentiating characteristics of respondents.
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Pessoal Técnico de Saúde/psicologia , Ansiedade/psicologia , Condução de Veículo/psicologia , Extroversão Psicológica , Introversão Psicológica , Adulto , Ambulâncias , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Assunção de RiscosRESUMO
BACKGROUND: Atopic dermatitis and psoriasis are chronic skin diseases that affect the mental health of patients. The relationship between AD and psoriasis and cognitive processes in patients remains unclear. The aim of the review was to answer the question of whether AD and psoriasis have an impact on cognitive decline in patients. METHOD: A systematic literature search was conducted on PubMed and EBSCO to identify case-control, cross-sectional, or cohort studies that evaluated the association between atopic dermatitis and psoriasis and cognitive impairment. RESULTS: Most of the studies included in the review confirmed cognitive decline in patients with atopic dermatitis and psoriasis. CONCLUSIONS: It seems that atopic dermatitis and psoriasis may negatively affect cognitive processes such as working memory, concentration, attention, and speed of motor reactions. Psychological interventions targeting distorted cognitive processing could improve the quality of life of patients with atopic dermatitis and psoriasis.
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The neuropsychological functioning of people with type 1 diabetes (T1D) is of key importance to the effectiveness of the therapy, which, in its complexity, requires a great deal of knowledge, attention, and commitment. Intellectual limitations make it difficult to achieve the optimal metabolic balance, and a lack of this alignment can contribute to the further deterioration of cognitive functions. The aim of this study was to provide a narrative review of the current state of knowledge regarding the influence of diabetes on brain structure and functions during childhood and also to present possible actions to optimize intellectual development in children with T1D. Scopus, PubMed, and Web of Science databases were searched for relevant literature using selected keywords. The results were summarized using a narrative synthesis. Disturbances in glucose metabolism during childhood may have a lasting negative effect on the development of the brain and related cognitive functions. To optimize intellectual development in children with diabetes, it is essential to prevent disorders of the central nervous system by maintaining peri-normal glycemic levels. Based on the performed literature review, it seems necessary to take additional actions, including repeated neuropsychological evaluation with early detection of any cognitive dysfunctions, followed by the development of individual management strategies and the training of appropriate skills, together with complex, multidirectional environmental support.
Intellectual development in children with type 1 diabetes Disturbances in glucose metabolism during childhood may have a lasting negative effect on the development of the brain and related cognitive functions. To optimize intellectual development in children with type 1 diabetes, it is essential to prevent disorders of the central nervous system by maintaining close to normal glycemic levels. Based on the performed literature review, it seems necessary to take additional actions, including repeated neuropsychological evaluation with early detection of cognitive dysfunctions, followed by the development of individual management strategies, and the training of appropriate skills, together with complex, multidirectional environmental support.
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The most lethal damage for the cell among all damage is double-strand breaks (DSB) of DNA. DSB cause development of cancer diseases including the triple-negative molecular subtype of breast cancer. The aim of this work was to evaluate the single nucleotide polymorphism -135G>C (rs1801320) of the RAD51 gene encoding DNA repair proteins by homologous recombination (HR) in triple-negative breast cancer (TNBC). We assessed the RAD51 -135G>C polymorphism in 50 women with triple-negative breast cancer and in 50 women from the control group. RAD51 polymorphism was analysed by the PCR-RFLP (restriction fragment length polymorphism) technique. Our results demonstrated a significant positive association between the RAD51 C/C genotype and TNBC, with an adjusted odds ratio (OR) of 5.95 (p = 0.002). The homozygous C/C genotype was found in 68% of breast cancer cases and 20% of controls. The variant 135C allele of RAD51 increased TNBC risk. This is the first study linking single nucleotide polymorphisms of the RAD51 gene with TNBC incidence in the population of Polish women. In conclusion, RAD51 polymorphisms may be regarded as predictive factors of triple-negative breast cancer in the female population. Large studies are needed to confirm our findings.
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Neoplasias da Mama/genética , Polimorfismo de Nucleotídeo Único , Rad51 Recombinase/genética , Adulto , Neoplasias da Mama/classificação , Quebras de DNA de Cadeia Dupla , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Homozigoto , Humanos , Pessoa de Meia-Idade , Gradação de Tumores , Polônia , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , RiscoRESUMO
INTRODUCTION: Childbirth is both joyful and stressful life event. This stressful life event results in different emotions occurring with different strength among new mothers, one of them is postpartum depression. However, postnatal depression received the predominance of research attention in recent years, and several authors have pointed attention to the importance of distinguishing between postpartum depression and postpartum anxiety. AIM: The primary purpose of the presented research was to assess the level of anxiety and depression among women who were hospitalised after delivery. The second purpose was to determine if some additional factors influence the level of anxiety and depression. MATERIAL: The study was conducted on the sample of 46 women who had delivered infants in the Gynecology - Obstetrics Clinical Hospital UM in Poznan, Poland in 2010. Method. Polish adaptations of standard questionnaires were used to measure variables such as anxiety (STAI), depression (BDI), styles of coping (CISS) and temperament (PTS). Additional data were collected using a questionnaire developed by the authors. RESULTS: Statistical analysis assessed the level and frequency of anxiety (as a state and as a trait) and depression and associations between these factors as well as associations with additional variables (including: mode of delivery, styles of coping with stress and temperament). CONCLUSIONS: The score in BDI in mothers after delivery was associated positively with emotion - oriented style of coping and anxiety as a state and as a trait and negatively with strength of inhibition processes. Anxiety as a trait was positively related to c-section.
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Ansiedade/epidemiologia , Ansiedade/psicologia , Depressão Pós-Parto/epidemiologia , Depressão Pós-Parto/psicologia , Complicações na Gravidez/psicologia , Índice de Gravidade de Doença , Adaptação Psicológica , Adulto , Comorbidade , Feminino , Humanos , Bem-Estar Materno/estatística & dados numéricos , Gravidez , Complicações na Gravidez/epidemiologia , Autoimagem , Apoio Social , Estresse Psicológico/epidemiologia , Adulto JovemRESUMO
(1) Background: Identification of typical behavioral manifestations in patients with DEAD-Box Helicase 3 X-linked gene (DDX3X) variants plays a crucial role in accurately diagnosing and managing the syndrome. The objective of this paper was to carry out a review of medical and public databases and assess the behavioral features of the DDX3X syndrome (DDX3X), with a particular focus on psycho-pathological symptoms. (2) Methods: An extensive computerized search was conducted in various databases, including PubMed, Medline Complete, Science Direct, Scopus, and Web of Science. Specific keywords and Medical Subject Headings were used to ensure the inclusion of relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were applied to assess the methodological quality of the manuscripts. (3) Results: Only nine papers out of the 272 assessed met the inclusion criteria. These articles revealed various psycho-pathological manifestations in patients with the DDX3X syndrome. Intellectual disability (ID) or developmental disability (DD), speech delay, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), generalized anxiety disorder (GAD), self-injurious behaviors (SIBs), sensory symptoms and sleep disturbance were demonstrated to be the most common psycho-pathological behavior manifestations. (4) Conclusions: Patients with the DDX3X syndrome manifest a wide spectrum of psycho-pathological symptoms. A comprehensive investigation of these symptoms in patients is essential for early diagnosis and effective therapy.
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Systemic sclerosis is a connective tissue disease of unknown origin and with an unpredictable course, with both cutaneous and internal organ manifestations. Despite the enormous progress in rheumatology and clinical immunology, the background of this disease is largely unknown, and no specific therapy exists. The therapeutic approach aims to treat and preserve the function of internal organs, and this approach is commonly referred to as organ-based treatment. However, in modern times, data from other branches of medicine may offer insight into how to treat disease-related complications, making it possible to find new drugs to treat this disease. In this review, we present therapeutic options aiming to stop the progression of fibrotic processes, restore the aberrant immune response, stop improper signalling from proinflammatory cytokines, and halt the production of disease-related autoantibodies.
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OBJECTIVES: Many facts indicate the important role of psychosomatic symptoms that occur due to traumatic events. This study is an analysis of the coexistence of psychosomatic symptoms and traumatic events. Though not every person taking part in these events develops a fully symptomatic post-traumatic stress disorder (PTSD), psychosomatic symptoms with a strong psychological component are observed in many. This study focuses on a comparison of the intensity of somatization, anxiety, depression, and distress of medical university students, who encountered a traumatic event and those who have not experienced trauma. MATERIAL AND METHODS: The data was collected from 594 students of different academic majors at the Poznan University of Medical Sciences, Poland. The participants were asked if they had experienced situations that caused psychological trauma as well as about the intensity of their psychosomatic symptoms. The data was collected with 2 questionnaires: Post-traumatic Stress Diagnostic Scale and Four-Dimensional Symptom Questionnaire. RESULTS: The study reveals that 78% of students experienced a traumatic event, in 15% moderate and severe symptoms of PTSD are observed, 45% presents average and high stress levels, 23% experiences symptoms of depression, whereas 30% has anxiety and 26% somatic symptoms. CONCLUSIONS: Studies show that experiencing traumatic events in life is linked to the higher intensity of an/the entire range of psychosomatic symptoms. Int J Occup Med Environ Health. 2023;36(5):606-17.
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Transtornos de Estresse Pós-Traumáticos , Estudantes de Medicina , Humanos , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Ansiedade/epidemiologia , Polônia/epidemiologiaRESUMO
Intellectual functioning studies carried out amongst children indicate that chronic diseases like type 1 diabetes and growth hormone deficiency (GHD), may, but do not necessarily, result in intellectual loss. Cognitive functions may decline as a child becomes older, as a disease persists over time and/or due to non-compliance with treatment recommendations or high stress levels. This study aimed to assess the cognitive functioning of children and youths with T1D and GHD-related short stature compared to healthy children. METHODS: The study was carried out on 88 children with type 1 diabetes, 38 children suffering from short stature caused by (GHD), as well as a control group comprising 40 healthy children. Weschler's tests were applied to measure intellectual and cognitive functions. RESULTS: The results suggest that for children suffering from type 1 diabetes and short stature, their chronic childhood diseases per se do not impair cognitive development. It was observed that the higher the age of chronically ill children and the longer the disease persists, the lower their scores in individual cognitive subtests. For healthy children, age is correlated with the acquisition of particular skills and higher scores in specific subtests. CONCLUSIONS: On the basis of qualitative analysis of the cognitive functions subject to the study and close clinical observation of chronically ill children, we have been able to conclude that chronic diseases may alter cognitive functioning.
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AIMS: Rett syndrome (RTT) is a neurodevelopmental disorder caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene. It is characterized by profound and severe motor disability. Patients with RTT grind their teeth, causing damage to their permanent teeth. This article aims to describe the case of an 8-year-old child with RTT and the methods of botulinum toxin-based treatment for teeth grinding. METHODS AND RESULTS: Surface electromyography (sEMG) was used to monitor the effects of treatment. The masseter and temporal muscles, responsible for the elevation of the mandible, were injected with botulinum toxin. The results of the sEMG examination performed 1 week, 1 month and 4 months after toxin administration were compared to the sEMG conducted before treatment. The research demonstrates a significant reduction in both grinding frequency and tension of the masseter and temporal muscles. CONCLUSION: Possible adverse effects after chronic use of botulinum toxin were discussed. The article also emphasizes the need for masticatory muscle rehabilitation during botulinum toxin therapy. However, it is necessary to repeat this procedure on a larger group of children with RTT to establish our efforts' efficacy.