The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.

The 22q11.2 deletion syndrome (DS) can have a significant impact on functionality. The purpose was to describe 22q11.2DS children with functioning from a biopsychosocial perspective, focusing on the impact of children's health condition from domains of the International Classification of Functioning, Disability, and Health (ICF). METHODS: A descriptive, cross-sectional case series study with seven 22q11.2DS children. A questionnaire with an ICF checklist for 22q11.2DS was completed using a structured interview. The Wechsler Abbreviated Scale of Intelligence (WASI) was used to determine the Intelligence Quotient (IQ). RESULTS: Seven participants from 7 to 12 years old, presented some level of IQ impairment. It was observed that 22q11.2DS children experience significant intellectual, cognitive, and speech impairments across ICF Body Function domains. Impairments related to nose and pharynx were found in only one patient. The most relevant categories considered limitations in the Activity and Participation components pertained to producing nonverbal messages, communication, handling stress, and social interaction. Family, health professionals, and acquaintances were perceived as facilitators in the component Environmental Factors. CONCLUSION: The sample has its functioning affected by aspects that go beyond impairments in body structure and function. The organization of information from the perspective of the ICF is a different approach that helps clinical reasoning.

Constitutional chromosomal anomalies in children, fetal alcohol syndrome, and maternal toxicant exposures: A longitudinal cohort study.

DNA alterations in gametes, which may occur either spontaneously or as a result of exposure to genotoxicants, can lead to constitutional chromosomal anomalies in the offspring. Alcohol is an established genotoxicant. The goal of this hypothesis-testing longitudinal cohort study was to evaluate the effect of significant/sustained maternal alcohol exposure on clinically diagnosed constitutional chromosomal anomalies among children diagnosed with fetal alcohol syndrome (FAS). De-identified eligibility and claim healthcare records, prospectively generated from the 1990-2012 Florida Medicaid system within the Independent Healthcare Research Database (IHRD), were analyzed. Children examined were continuously eligible with ≥ 8 outpatient office visits during the 96-month period following birth. Among these children, 377 were diagnosed with FAS and 137,135 were not. The incidence rate of chromosomal anomalies involving segregation (trisomy 13, 18, or 21, n = 625), microdeletions (microdeletion syndromes, n = 39), and point mutations (sickle-cell anemia/cystic fibrosis, n = 2570) were examined using frequency risk ratio (RR) and logistic regression (adjusted odds ratio (aOR) for sex, race, residence, socioeconomic/environmental exposure status, and birth date) models. The incidence rates of chromosomal anomalies involving segregation (RR=5.92, aOR=5.85) and microdeletions (RR=41.6, aOR=34.1) were significantly increased in the FAS cohort as compared to the non-diagnosed cohort, but there was no difference in the incidence rate of point mutations (RR=1.14, aOR=1.29). Maternal toxicant exposure should be considered in the etiology of constitutional chromosomal anomaly in offspring.

Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis.

22q11.2 deletion syndrome (22q11.2DS) is a multisystemic disorder characterized by a wide range of clinical features, ranging from life-threatening to less severe conditions. One-third of individuals with the deletion live with mild to moderate intellectual disability; approximately 60% meet criteria for at least one psychiatric condition.22q11.2DS has become an important model for several medical, developmental, and psychiatric disorders. We have been particularly interested in understanding the risk for psychosis in this population: Approximately 30% of the individuals with the deletion go on to develop schizophrenia. The characterization of cognitive and neural differences between those individuals who develop schizophrenia and those who do not, despite being at genetic risk, holds important promise in what pertains to the clarification of paths to disease and to the development of tools for early identification and intervention.Here, we review our previous event-related potential (ERP) findings as potential markers for 22q11.2DS and the associated risk for psychosis, while discussing others' work. We focus on auditory processing (auditory-evoked potentials, auditory adaptation, and auditory sensory memory), visual processing (visual-evoked potentials and visual adaptation), and inhibition and error monitoring.The findings discussed suggest basic mechanistic and disease process effects on neural processing in 22q11.2DS that are present in both early sensory and later cognitive processing, with possible implications for phenotype. In early sensory processes, both during auditory and visual processing, two mechanisms that impact neural responses in opposite ways seem to coexist-one related to the deletion, which increases brain responses; another linked to psychosis, decreasing neural activity. Later, higher-order cognitive processes may be equally relevant as markers for psychosis. More specifically, we argue that components related to error monitoring may hold particular promise in the study of risk for schizophrenia in the general population.

Adaptive living skills, sleep problems, and mental health disorders in adults with 22q11.21 deletion syndrome.

BACKGROUND: 22q11.21 deletion syndrome (22q11DS) is a neurodevelopmental syndrome caused by a microdeletion of genes at the 22q11.21 locus. It has a prevalence of 1:2000. This study investigated the prevalence of adaptive living skills, sleep problems, and mental health disorders in adults with 22q11DS and examined the relationship between these factors. METHODS: Parents with an adult son or daughter with 22q11DS completed the following: A bespoke Demographic Information Questionnaire, Sleep Questionnaire (SQ-SP), Psychopathology in Autism Checklist (PAC), and Activities of Daily Living (ADL) scale. Descriptive statistics, correlations, and one-way between groups analysis of variance (ANOVA) were conducted. RESULTS: Mental health difficulties, sleep problems, and low levels of adaptive living skills are prevalent in adults with 22q11DS. Strong positive correlations were identified between sleep problems, depression, and anxiety subscale scores and moderate negative correlations between depression, psychosis, and activities of daily living skills. CONCLUSION: Adults with 22q11DS need screening and treatment for mental health and sleep problems.

Complemento a la teoria del levantamiento del velo corporativo en Colombia desde el principio de la buena fe y el abuso del derecho / Complement to the theory of lifting the corporate veil in Colombia based on the principle of good faith and abuse of law / Complemento à teoria de perfuração do véu corporativo na Colômbia baseado no principio da boa-fé e abuso de direito

RESUMEN Este artículo tiene como objetivo complementar la teoria del levantamiento corporativo definida por los máximos tribunales colombianos con reflexiones doctrinales sobre el principio de la buena fe y del abuso del derecho. El texto presenta los hallazgos de una investigación Qualitativa con un enfoque dogmático de técnica documental especializada, que permitió identificar y seleccionar sentencias hito en el período 1999-2019 que caracterizaran el levantamiento del velo corporativo y además, permitió identificar y seleccionar estudios doctrinales, con preferencia de la misma época, que permiten consolidar la teoria. La estrategia de búsqueda inició con la delimitación de las variables de análisis con base en el proyecto de investigación, que fueron usadas posteriormente en la consulta y selección de artículos de investigación jurídica en las bases de datos especializadas a partir de criterios de elección temáticos, temporales, geográficos, idiomáticos y de tipo de publicación. Con la investigación se concluye que no es suficiente con mencionar la buena fe y el abuso del derecho en los procesos de desestimación de la personalidad jurídica, se hace necesario dotar estos principios de contenido normativo para realizar una tarea de identificación de actos antijurídicos en el contexto societario.

ABSTRACT This article aims to complement the theory of the disregard of the legal entity defined by the highest Colombian courts with doctrinal reflections on the principles of good faith and abuse of law.The text presents the findings of a qualitative research with a dogmatic approach of specialized documentary technique, which allowed to identify and select landmark sentences in the period 1999-2019 that characterized the lifting of the corporate veil and allowed to identify and select doctrinal studies, with preference of the same period, which permit to consolidate the theory The search strategy began with the delimitation of variables for analysis based on the research project, which were subsequently used in the consultation and selection of legal research articles in specialized databases based on thematic, temporal, geographical, idiomatic and publication-type selection criteria. With the investigation it is concluded that it is not enough to mention the good faith and the abuse of the right in the processes of dismissal of the legal personality it is necessary to provide these principles with normative content to carry out a task of identifying unlawful acts in the context corporate law.

RESUMO Este artigo tem como objetivo complementar a teoria do levantamento corporativo definida pelos máximos tribunais colombianos com reflexões doutrinais sobre o princípio da boa-fé e do abuso do direito. O texto apresenta os resultados de uma investigação qualitativa com uma abordagem dogmática de técnica documental especializada, que permitiu identificar e selecionar sentenças marco no período 1999-2019 que caracterizaram o levantamento do véu corporativo e, além disso, permitiu identificar e selecionar estudos doutrinários, com preferência da mesma época, que permitem consolidar a teoria. A estratégia de pesquisa começou com a delimitação das variáveis para a análise com base no projeto de pesquisa, que foram usadas posteriormente na consulta e seleção de artigos de pesquisa jurídica nas bases de dados especializadas a partir de critérios de eleição temáticos, temporais, geográficos, idiomáticos e de tipo de publicação. A investigação concluiu que não basta mencionar a boa fé e o abuso do direito nos processos de rejeição da personalidade jurídica, é necessário dotar estes princípios de conteúdo normativo para realizar uma tarefa de identificação de atos antijundicos no contexto societário.

Correlation of the Chinese velopharyngeal insufficiency-related quality of life instrument and speech in subjects with cleft palate.

OBJECTIVE: Assessment of the hypothesized correlation between the Chinese Velopharyngeal Insufficiency (VPI) Effects on Life Outcomes (VELO) instrument and measured speech parameters. METHODS: A cross-sectional study was conducted in the Oral Clefts Center of West China Hospital of Stomatology between January 2019 and December 2019. Speech parameters including speech intelligibility deficit, VPI severity, VP gap, and need for speech therapy were evaluated by speech-language pathologists. All patients and their parents completed the VELO instrument. The correlation between aforementioned speech parameters and VELO scores was examined utilizing Spearman correlation coefficients. The reliability of VELO test-retest and parent proxy assessment was estimated utilizing intraclass correlation coefficients (ICC). A receiver operating characteristic curve was used to calculate the cutoff VELO score. RESULTS: One hundred and forty patients with their parents were enrolled. The mean age was 12.58 ± 3.72 years. Both parent and youth VELO total and domain scores recorded moderate to strong correlations with all speech parameters (r > -.40, P ˂ .001) except the swallowing domain. Most VELO domain items have shown significant correlations with at least one speech parameter. Moreover, the scales of all speech parameters showed different VELO scores (P Ë‚ .001). The ICC reported test-retest correlation >.73 in all domains, and parent proxy correlation >.63 in most domains except the emotional and perception domains. The cutoff VELO score was 79.04 in parent version and 85.77 in youth version. CONCLUSIONS: The correlations between VELO scores and measured speech parameters have provided evidence for test-retest and parent proxy reliability and criterion and construct validity of the Chinese version of the VELO instrument. A VELO score ≥79.04 (in parent version) or ≥85.77 (in youth version) mostly reflects proper speech-related quality of life. Hence, this instrument could serve as a simple tool to help clinicians understand the social, emotional, and physical influences of VPI.

An examination of adaptive behavior and functional outcomes in adults with 22q11.2 deletion syndrome: A parental perspective.

22q11.2 Deletion Syndrome (22q11DS) is a genetic syndrome caused by a chromosomal microdeletion. It affects approximately 1 in 850-992 pregnancies, and its clinical manifestations include congenital heart disease, gastrointestinal symptoms, and psychiatric illnesses. The study examined the relationship between adaptive behavior and functional outcomes, educational attainment, employment, and independent living, and whether age, gender, intellectual disability, presence of psychiatric disorder, and close friendships could predict levels of adaptive behavior. Parents of adults with 22q11DS (n = 101; 48 male and 54 female) completed the Waisman Activities of Daily Living Scale, demographic details, and questions elicited employment, education, and relationships status. Analysis conducted in SPSS, included descriptive statistics, measures of association, Analysis of Variance, logistic and linear regressions. Differences in levels of overall adaptive behavior were found regarding employment and living status, but not in educational attainment. Having close friendships was associated with adaptive behavior as well as the likelihood of living independently. Further research is needed, ideally using prospective designs and purposive sampling strategies. This needs to examine how social and communication deficits impact relationship building and how they are affected by the clinical manifestations of 22q11DS. It also needs to focus on how different social structures interface with levels of adaptive behavior.

Column length is a structure-independent measure of solvent consumption in liquid chromatography.

Column length (L) is a measure of solvent consumption in LC analysis. In its latter role, L is the specific solvent consumption - the void time (tM) solvent consumption per unit of the column flow-area (AF) which is the cross-sectional area of the column open space (external and internal pores). In tanal-long LC analysis (isocratic or gradient), the solvent consumption (VS) is VS = AFLtanal /tM regardless of flow rate (F) as long as all changes in column dimensions and operational parameters are translatable (in gradient analysis, the ratio of the gradient time (tG) to tM remains fixed).

The Importance of Understanding Individual Differences of Emotion Regulation Abilities in 22q11.2 Deletion Syndrome.

Chromosome 22q11.2 deletion syndrome (22q11DS) is characterised by a complex behavioural phenotype including anxiety, attention-deficit/hyperactivity disorder and psychosis. In the current study, we aimed at improving our understanding of the heterogeneity of behavioural characteristics in a group of 129 young people (aged 4-22) with a confirmed 22q11.2 microdeletion and 116 age and gender matched typically developing controls. Half the participants with 22q11DS had behaviour characterised by emotion dysregulation. A cluster analyses, of the participants with 22q11DS, revealed four groups characterised by intact emotion regulation; predominantly internalizing problems; both internalizing and externalizing problems; and predominantly externalizing difficulties. Importantly, it was found that young people with 22q11DS whose emotion dysregulation was characterised by externalizing problems had the poorest levels of functioning. As our understanding of 22q11DS improves, it is becoming increasingly clear that we need a better understanding of how individual differences and psychosocial factors contribute to, and interact with one another, to result in the observable individual differences in the 22q11DS behavioural phenotype.

Nevus azul celular con satelitosis y velo azul blanquecino simulando un melanoma, a propósito de un caso / Cellular blue nevus with satellitosis and blue veil whitish simulating a melanoma, purpose of a case

Los nevi azules son proliferaciones melanocíticas dendríticas benignas a nivel dérmico, congénitos o adquiridos, debido a un defecto migratorio embrionario de melanocitos a partir de la cresta neural. Se manifiestan clásicamente como una pápula, nódulo o placa de color azul o azul-gris. Muchos subtipos histológicos se han descrito, siendo los más comunes el nevus azul común, nevus azul celular y nevus azul combinado. Las formas esporádicas incluyen al nevus azul lineal, eruptivo, agminado y con satelitosis. La dermatoscopía característica muestra un patrón de pigmentación homogéneo monocromático azul o azul-grisáceo, con ausencia de otras estructuras. Sin embargo, se han descrito también patrones de pigmentación dicromáticos y multicromáticos, además de estructuras tales como red de pigmento, puntos, glóbulos, proyecciones radiadas, pseudópodos, áreas cicatriciales blanquecinas, patrón vascular y rosetas. El diagnóstico diferencial de los nevi azules incluye lesiones melanocíticas y no melanocíticas, benignas y malignas, destacando entre ellas el melanoma. Se presenta el caso de un paciente de sexo masculino de 30 años, portador de un nevus azul celular con cambios de rápida evolución, con desarrollo de lesiones satélites y un aspecto dermatoscópico sugerente de malignidad, simulando un melanoma.

Blue nevi are benign, congenital, or acquired, dermal dendritic melanocytic proliferations due to an embryonic migratory defect of melanocytes starting from the neural crest. They classically manifest as a blue or blue-gray papule, nodule, or plaque. Many histological subtypes have been described, including common blue nevus, cellular blue nevus and combined blue nevus. Sporadic forms include linear blue nevus, eruptive, agminate and with satellitosis. Characteristic dermoscopy shows a homogeneous monochromatic blue or steel-blue pigmentation pattern, with the absence of other structures. However, dichromatic and multichromatic pigmentation patterns have also been described, in addition to structures such as pigment network, dots, globules, streaks, pseudopods, whitish scar areas, vascular pattern and rosettes. Differential diagnosis of blue nevi includes melanocytic and non-melanocytic, benign and malignant lesions, most notably melanoma. The case of a 30-year-old male patient is presented, with a cellular blue nevus with rapidly evolving changes, with development of satellite lesions and a dermoscopic appearance suggestive of malignancy, mimicking melanoma.

Optimising immunisation in children with 22q11 microdeletion.

BACKGROUND: The condition known as 22q11 microdeletion syndrome has a broad phenotypic spectrum, with many affected individuals experiencing mild-to-moderate immunodeficiency. Currently, there are significant variations in live vaccine practices and immunological testing prior to live vaccine administration due to safety concerns and limited established guidelines. METHODS: Queensland Children's Hospital (QCH) Child Development Unit, offers a state-wide 22q11 microdeletion clinic. This is a retrospective single-centre review, capturing the majority of children with 22q11 microdeletion in Queensland, Australia. We describe the live vaccination status of 134 children, age 0 to 18 years under our care between 2000 and 2018, adverse events following immunisation (AEFI) and the proportion of children who received additional pneumococcal coverage. An immunological investigation pathway prior to live vaccine administration is proposed. RESULTS: Of the 134 children, 124 were eligible for live vaccinations as per the Australian National Immunisation Program: 82% had received dose one of measles, mumps and rubella (MMR) vaccine, 77% had completed MMR dose two and 66% had completed varicella immunisation. There were no AEFI notifications reported. Of the total sample of children, 18% received a fourth dose of conjugate pneumococcal vaccine (Prevenar 7 or 13) and 16% received a dose of Pneumovax 23 from 4 years of age. Immunology workup practices were demonstrated to vary widely prior to live vaccine administration. Most patients' immune profiles were consistent with mild-to-moderate immunodeficiency. CONCLUSION: We propose an immunological investigation and vaccination pathway with the aim of providing guidance and consistency to clinicians caring for children with 22q11 microdeletion.

Pilot Evaluation of a School-Based Programme Focused on Activity, Fitness, and Function among Children with Cerebral Palsy at GMFCS Level IV: Single-Subject Research Design.

Purpose: Children with cerebral palsy (CP) who function at Gross Motor Function Classification System (GMFCS) Level IV have difficulty achieving sufficient levels of physical activity to promote fitness. The purpose of this pilot evaluation was to investigate the practicability and impact of a school-based supported physical activity programme, using adaptive bicycles, on cardiorespiratory fitness and gross motor function among children with CP at GMFCS Level IV. Method: We used a single-subject, A-B-A-B research design replicated across three participants aged 8-14 years with CP at GMFCS Level IV who attended three different schools. Cardiorespiratory fitness was assessed weekly during all study phases using the energy expenditure index (EEI). Gross motor function was assessed using the Gross Motor Function Measure-66 (GMFM-66) and goal attainment scaling (GAS). During the intervention phases, an adaptive bicycle-riding programme was carried out daily at school for up to 30 minutes. Results: One participant demonstrated significant improvement on the EEI. All participants demonstrated improvement in gross motor function as determined by the GMFM-66 and GAS. Insights were garnered pertaining to the design for large-scale future studies. Conclusions: This pilot evaluation supports further investigation of school-based adaptive bicycle-riding programmes for children who have CP at GMFCS Level IV.

Objectif : les enfants ayant une paralysie cérébrale (PC) qui fonctionnent au niveau IV du système de classification de la fonction motrice globale (GMFCS) éprouvent de la difficulté à parvenir à un niveau d'activité physique suffisant pour promouvoir la forme physique. La présente évaluation pilote visait à explorer l'aspect pratique et les répercussions d'un programme d'activité physique en milieu scolaire, de l'utilisation de vélos adaptés, de la forme cardiorespiratoire et de la fonction motrice globale chez les enfants au niveau IV du GMFCS de la PC. Méthodologie : méthodologie de recherche A­B­A­B à cas unique reproduite pour trois sujets de huit à 14 ans au niveau IV de la PC fréquentant trois écoles différentes. Pendant toutes les phases de l'étude, les chercheurs ont procédé à l'évaluation hebdomadaire de leur forme cardiorespiratoire à l'aide de l'indice de dépense énergétique (IDÉ). Ils ont évalué la fonction motrice globale au moyen de la mesure de la fonction motrice globale­66 (GMFM­66) et de l'échelle de réalisation des objectifs (GAS). Pendant la phase d'intervention, un programme de cyclisme adapté a eu lieu tous les jours à l'école pendant un maximum de 30 minutes. Résultats : un participant a présenté une amélioration importante à l'IDÉ. Tous les participants ont amélioré leur fonction motrice globale, déterminée par la GMFM­66 et la GAS. Les chercheurs ont colligé des points de vue sur la méthodologie de prochaines études à vaste échelle. Conclusions : la présente évaluation pilote appuie l'exploration plus approfondie de programmes de cyclisme adapté en milieu scolaire pour les enfants au niveau IV du GMFCS de la PC.

Suplementação gestacional na produção de lã de ovelhas e cordeiros / Gestacional supplementation in wool production of ewes and lambs

O objetivo deste estudo foi avaliar o efeito da suplementação durante diferentes períodos gestacionais sobre a produção de lã de ovelhas e cordeiros da raça Ideal. Foram utilizadas 53 ovelhas da raça Ideal, com escore corporal médio (3), inseminadas pela técnica de laparoscopia, com sêmen fresco de um único reprodutor; e seus cordeiros. Os tratamentos experimentais foram: sem suplementação (n=9); suplementação do início da gestação até 50 dias (n=11); suplementação dos 51 aos 100 dias de gestação (n=11); suplementação dos 101 aos 150 dias - final da gestação (n=11); e suplementação durante toda a gestação (n=11). A suplementação foi a 1,5% do peso corporal. Amostras de lã das ovelhas e dos cordeiros foram tomadas na região do costilhar esquerdo e enviadas ao laboratório para análises objetivas de finura de lã. As suplementações no terço final e durante toda a gestação proporcionavam os melhores resultados, com aumento de produção de lã e de peso das ovelhas. Ovelhas que receberam suplementação durante toda a gestação apresentaram maior diâmetro de fibra e peso corporal. O desempenho de lã dos cordeiros não foi influenciado pela alimentação de ovelhas durante a gestação.(AU)

The objective of this study was to evaluate the effect of supplementation during different gestational periods on the wool production of sheep and lambs of the Ideal breed. Fifty-three adult Ideal sheep were used, with a mean body score inseminated by the laparoscopy technique using fresh sperm from a single breeder and his lambs. Treatment groups: No supplementation (n=9); Supplementation in the beginning of gestation up to 50 days (n=11); Supplementation from 51 to 100 days of gestation (n=11); Supplementation from 101 to 150 days - end of gestation (n=11) ;and Supplementation throughout the gestation (n=11). The supplementation was at 1.5% of body weight. After birth, lambs were kept with their mothers in cultivated pasture of black oats and ryegrass. Wool samples from sheep and lambs were taken in the left-hand region and sent to the laboratory for objective analyzes of wool fineness. The supplementation performed in the final third and throughout the gestation provides the best results, with increased sheep weight. Ewes that received supplementation throughout pregnancy had greater fiber diameter and body weight. The wool performance of lambs was not influenced by feeding sheep during gestation.(AU)

"She'll be able to live independently as long as I'm around": The "lived" experience of parenting a child with 22q11.2 deletion syndrome in the transition to adulthood.

BACKGROUND: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome. Parents of emerging adults with 22q11DS have an intense and ongoing involvement in their child's life. This study explores the lived experience of parents in relation to their child becoming independent and establishing intimate relationships. METHOD: Interpretative phenomenological analysis was used to explore the positive and negative experiences of five parents of emerging adults with 22q11DS. RESULTS: Supervised independence overarched four subordinate themes. These themes highlighted the difficulties experienced by parents attempting to relinquish control whilst still experiencing a need to keep their child safe as their child negotiated a complex stage of life. Parents waited for "signs" from their child before initiating conversations about intimate relationships. CONCLUSIONS: These findings provide insight into the lived experience of parenting a child through the transition into adulthood, providing a catalyst for further research with the aim of facilitating better services for families.

Research progress on mechanism of TBX1 gene affecting phenotype of 22q11.2 microdeletion syndrome / 医学研究生学报

22q11.2 microdeletion syndrome is a genetic syndrome caused by the deletion of 22q11.21-q11.23 in the proximal long arm microfragment of chromosome 22 for human. TBX1 belongs to the T-box family and is located in 22q11.2 of chromosome. Studies have shown that haploinsufficiency of TBX1 is the main cause of 22q11.2 microdeletion syndrome, which is of great significance for the appearance of its phenotype. Therefore, this paper reviews the research progress of TBX1 in the mechanism of cardiac disease, pulmonary artery phenotype, thymus development, pharyngeal and palatal development, lymphatic formation, and low proliferation of parathyroid tumors.

Research progress on mechanism of TBX1 gene affecting phenotype of 22q11.2 microdeletion syndrome / 医学研究生学报

22q11.2 microdeletion syndrome is a genetic syndrome caused by the deletion of 22q11.21-q11.23 in the proximal long arm microfragment of chromosome 22 for human. TBX1 belongs to the T-box family and is located in 22q11.2 of chromosome. Studies have shown that haploinsufficiency of TBX1 is the main cause of 22q11.2 microdeletion syndrome, which is of great significance for the appearance of its phenotype. Therefore, this paper reviews the research progress of TBX1 in the mechanism of cardiac disease, pulmonary artery phenotype, thymus development, pharyngeal and palatal development, lymphatic formation, and low proliferation of parathyroid tumors.

What do error patterns in processing facial expressions, social interaction scenes and vocal prosody tell us about the way social cognition works in children with 22q11.2DS?

Impairments in social cognition have been frequently described in 22q11.2 deletion syndrome (22q11.2DS) and are thought to be a hallmark of difficulties in social interactions. The present study addresses aspects that are critical for everyday social cognitive functioning but have received little attention so far. Sixteen children with 22q11.2DS and 22 controls completed 1 task of facial expression recognition, 1 task of attribution of facial expressions to faceless characters involved in visually presented social interactions, and 1 task of attribution of facial expressions to characters involved in aurally presented dialogues. All three tasks have in common to involve processing of emotions. All participants also completed two tasks of attention and two tasks of visual spatial perception, and their parents completed some scales regarding behavioural problems of their children. Patients performed worse than controls in all three tasks of emotion processing, and even worse in the second and third tasks. However, they performed above chance level in all three tasks, and the results were independent of IQ, age and gender. The analysis of error patterns suggests that patients tend to coarsely categorize situations as either attractive or repulsive and also that they have difficulties in differentiating emotions that are associated with threats. An isolated association between the tasks of emotion and behaviour was found, showing that the more frequently patients with 22q11.2DS perceive happiness where there is not, the less they exhibit aggressive behaviour.

Patterns of Dysphagia and Airway Protection in Infants with 22q11.2-Deletion Syndrome.

OBJECTIVE: 22q11.2-deletion syndrome is a genetic condition that affects 1:3000 births. In addition to cardiac anomalies and immunosuppression, individuals with 22q11.2-deletion syndrome can have feeding difficulties from birth resulting in failure to thrive and infections. This study aims to characterize the dysphagia seen in infants with 22q11.2-deletion syndrome. METHODS: This is a retrospective chart review of infants with 22q11.2-deletion syndrome who underwent videofluoroscopic swallow studies (VFSS) from June 1, 2008 to January 1, 2018 at a tertiary children's hospital. Demographic data and VFSS findings were collected. RESULTS: Forty-four patients were identified, 52% were females, and mean age at VFSS was 71 days. In their lifetime, 30% of the patients had at least 1 episode of pneumonia, 66% had NG-tube placement and 41% required G-tube placement. 93% had oral-phase dysphagia, and 89% had pharyngeal-phase dysphagia. Twenty-two patients (50%) demonstrated evidence of penetration. Eighteen patients (41%) showed tracheal aspiration. Of the patients that showed tracheal aspiration, 83% of them aspirated "silently." Three patients (7%) had upper esophageal sphincter (UES) opening dysfunction. CONCLUSION: Vast majority of the infants with 22q11.2-deletion syndrome referred for swallow studies demonstrated evidence of dysphagia in both oral and pharyngeal phases with deficits in swallow physiology not yet documented in other studies. Importantly, more than 80% of these infants showed evidence of "silent" tracheal aspiration, which can lead to recurrent pneumonia and significant morbidity if overlooked. Prompt recognition is paramount in these infants to intervene early and reduce long-term complications and also develop targeted interventions. LEVEL OF EVIDENCE: 4 Laryngoscope, 130:2532-2536, 2020.

Measuring Patient-Reported Health-Related Quality of Life in Velopharyngeal Insufficiency: Reliability and Validity of the Brazilian Portuguese Version of the VELO Instrument.

OBJECTIVE: To test the Brazilian Portuguese velopharyngeal insufficiency (VPI) Effects on Life Outcome (VELO) instrument for reliability and validity. DESIGN: Cross-sectional methodological study. SETTING: Tertiary craniofacial medical center. PARTICIPANTS: Participants with VPI (VPI group, n = 60), with cleft and without VPI (no VPI/cleft group, n = 60), and with no cleft nor VPI (no VPI/no cleft group, n = 60) and their parents (n = 180). INTERVENTIONS: All patients with VPI 8+ years old and their parents completed the Brazilian-Portuguese VELO instrument and other questionnaires (Pediatric Quality of Life Inventory4.0, PedsQL4.0; Pediatric Voice-Related Quality of Life, PVRQOL; and Intelligibility in Context Scale, ICS) at baseline; patients with VPI and their parents completed the VELO instrument again 2 weeks later. MAIN OUTCOME MEASURES: The VELO instrument was tested for internal consistency, test-retest reliability, discriminant validity (participants with VPI against participants with no VPI), concurrent validity against other questionnaires, criterion validity against hypernasality severity, and construct validity against nasal air emission and overall velopharyngeal competence (speech construct) and velopharyngeal gap (anatomic construct). RESULTS: The VELO had excellent internal consistency (Cronbach α 0.99 for parents and 0.98 for participants with VPI) and test-retest reliability (all intraclass correlation coefficient > 0.87). The VELO discriminated well between VPI group and unaffected groups (all P < .05). The VELO was significantly correlated with the PedsQL4.0, PVRQOL, and ICS (-r > 0.75; P < .001). The VELO met criterion validity, speech construct validity, and anatomic construct validity (r > 0.7; P < .001). CONCLUSIONS: The Brazilian-Portuguese VELO instrument demonstrated reliability (internal consistency and test-retest) and validity (discriminant, concurrent, criterion, and construct).

[Structure of the thymus at the beginning of the 21th century]. / A thymus szerkezete a huszonegyedik század elején.

The classical histological features of the thymus are the cortex and medulla, the Hassall's bodies as well as the lobules. Anti-pan-cytokeratin immunocytochemistry shows that the keratin staining pattern of the cortical and medullary epithelial cells is different. The medulla is further compartmentalized: it consists of keratin-positive network and keratin-negative areas. Histology of the keratin-negative area is identical with the connective tissue of the septae. The basal lamina is continuous at the capsule and septae, but it becomes discontinuous at the border between the keratin-positive network and keratin-negative area. This immunohistochemical finding is the first histological sign, which may explain that the medulla has no blood-thymus barrier. The supporting tissue of the keratin-negative area is identical with that of the septae. The connective tissue of thymic capsule and septae develops from the cranial neural crest cells, therefore we hypothesize that the keratin-negative area has neural crest origin. Blood vessels of the thymic medulla localize in the keratin-negative area. Every emigrating or immigrating immunologically competent cells should enter the keratin-negative area, therefore this area is the transit zone of the thymus. The hematoxylin-eosin staining of the thymus shows that the thymic cortico-medullary border does not represent cellular background. However, the border between keratin-positive network and keratin-negative area is determined by cellular identity (epithelial and mesenchymal tissues). Therefore, it can be assumed that the real histological and functional border is the border between the keratin-positive network and the keratin-negative area. Orv Hetil. 2019; 160(5): 163-171.