The relationship between joint hypermobility and patellar instability: A systematic review.

Introduction: Hypermobility describes the movement of joints beyond normal limits. Whether hypermobility predisposes to patellar instability is yet to be established. We aimed to determine if joint hypermobility leads to an increased risk of patellar instability, and to evaluate outcomes of treatment for patellar instability in those who exhibit hypermobility. Methods: Published and unpublished literature databases were searched to September 7, 2023. Studies comparing prevalence of patellar dislocation/differences in treatment outcomes in patients with and without hypermobility were included. Results: We identified 18 eligible studies (4,391 patients). The evidence was low in quality. A case series on 82 patients found that there was a relationship between generalised joint laxity and patellar instability. This was corroborated by a study comparing 104 patients with patellar dislocation to 110 patients without. Prevalence of generalised joint laxity was six time higher in the former (64.4% vs 10.9%, p < 0.001).Five studies found surgical intervention aimed at correcting patellar dislocation in patients with idiopathic hypermobility led to satisfactory outcomes. There was conflicting evidence regarding if hypermobile patients have worse outcomes than non-hypermobile patients following medial patellofemoral ligament reconstruction (MPFLR) in two studies. In addition, this procedure had a 19.1% failure rate in patients with Ehlers Danlos Syndrome (EDS), with hypermobility associated with a higher failure rate (p = 0.03). One study showed the type of graft used made no difference in outcome scores or re-dislocation rates (p > 0.5). Another study had 7/31 (22.6%) autografts which failed, compared to 2/16 allografts (12.5%) (p = 0.69). Conclusion: Joint hypermobility is a risk factor for patellar instability. Identification of at-risk groups may aid prevention of dislocations and allow for appropriate treatment. Patients with EDS experience poor outcomes following patellar stabilization surgery, with post-operative monitoring required.

Listening to the voices of mothers in Indonesia: Qualitative content analysis of experiences in parenting children with down syndrome.

INTRODUCTION: Generally, mothers provide the majority of caring for children who have Down syndrome. They pose challenges not only with regard to the acceptability of the child situation but also with regard to the provision of care for children with DS. AIM: To explore the experiences of mothers parenting children with DS in Indonesia, to give a better understanding of their needs, which is necessary for the delivery of treatment. METHODS: A descriptive qualitative research with content analysis was used. Study participants (15 mothers) were purposively sampled from attendees of a State Special School for students with disabilities. Data was collected via semi-structure interviews and were audio recorded. Participant's statements underwent content analysis, and the principle of trustworthiness was subsequently applied. RESULTS: Five main themes describing participants' experiences were identified: (1) parenting experiences - the impacts, (2) special needs, (3) parenting barriers, (4) parenting facilitators, and (5) mothers' expectations. CONCLUSIONS: The study findings showed that the mothers viewed their situation in both positive and negative ways. Despite the limited sample size in this exploratory study, the results offer new insights into raising a child with DS in a particular cultural setting. IMPLICATIONS FOR PRACTICE: This study offers important information to families and healthcare providers to improve awareness of the disorder and its appropriate management methods. It is important that an exploration of the experiences of mothers will provide healthcare professionals and families with an understanding of the situation. This understanding is essential for the effective management and delivery of treatment.

Oral Health Status of Down's Syndrome Patients in Aseer, Saudi Arabia.

INTRODUCTION: It was observed that compared to the general population, mentally challenged subjects have higher rates of poor oral hygiene. Gingivitis is a common finding with moderate or severe variety reported most commonly. Periodontal disease is the most significant oral health problem, which can even lead to mobility of tooth and tooth loss. It is essential to generate oral health precautionary agendas and familiarize it with them. MATERIALS AND METHODS: Four Centres of rehabilitation in the Aseer region of Saudi Arabia were included and subjects of 3-24 year age group was examined. Written informed consent was obtained from directors of Centres. Caries, oral hygiene status, soft-tissue and hard-tissue lesions were evaluated and statistically analyzed. RESULTS: Higher Decayed, Missing and Filled Teeth score was observed in the present study in contrast to many other studies. Periodontal disease was seen in higher age group with higher percentages. Poor oral hygiene was seen in 27.3% of males and 66.7% of females. Tongue lesions comprised 85.7%, which accounted for the major part of soft-tissue abnormality. Various occlusal abnormalities (75%) and developmental tooth disturbances (53.6%) constitute the higher portion in hard-tissue abnormality. CONCLUSION: Dentists should be conscious of the range of oral anomalies that can manifest in this group of the patients. The microbial or serological investigation was not done which could have explained the etiology behind these lesions. In spite of these confines, the survey result have provided information regarding the oral health status of Down's syndrome subjects and the necessity of focusing on oral health need.

Aluminum in neurological disease - a 36 year multicenter study.

Aluminum is a ubiquitous neurotoxin highly enriched in our biosphere, and has been implicated in the etiology and pathology of multiple neurological diseases that involve inflammatory neural degeneration, behavioral impairment and cognitive decline. Over the last 36 years our group has analyzed the aluminum content of the temporal lobe neocortex of 511 high quality coded human brain samples from 18 diverse neurological and neurodegenerative disorders, including 2 groups of age-matched controls. Brodmann anatomical areas including the inferior, medial and superior temporal gyrus (A20-A22) were selected for analysis: (i) because of their essential functions in massive neural information processing operations including cognition and memory formation; and (ii) because subareas of these anatomical regions are unique to humans and are amongst the earliest areas affected by progressive neurodegenerative disorders such as Alzheimer's disease (AD). Coded brain tissue samples were analyzed using the analytical technique of: (i) Zeeman-type electrothermal atomic absorption spectrophotometry (ETAAS) combined with (ii) an experimental multi-elemental analysis using the advanced photon source (APS) ultra-bright storage ring-generated hard X-ray beam (7 GeV) and fluorescence raster scanning (XRFR) spectroscopy device at the Argonne National Laboratory, US Department of Energy, University of Chicago IL, USA. These data represent the largest study of aluminum concentration in the brains of human neurological and neurodegenerative disease ever undertaken. Neurological diseases examined were AD (N=186), ataxia Friedreich's type (AFT; N=6), amyotrophic lateral sclerosis (ALS; N=16), autism spectrum disorder (ASD; N=26), dialysis dementia syndrome (DDS; N=27), Down's syndrome (DS; trisomy21; N=24), Huntington's chorea (HC; N=15), multiple infarct dementia (MID; N=19), multiple sclerosis (MS; N=23), Parkinson's disease (PD; N=27), prion disease (PrD; N=11) including bovine spongiform encephalopathy (BSE; 'mad cow disease'), Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Sheinker syndrome (GSS), progressive multifocal leukoencephalopathy (PML; N=11), progressive supranuclear palsy (PSP; N=24), schizophrenia (SCZ; N=21), a young control group (YCG; N=22) and an aged control group (ACG; N=53). Amongst these 18 common neurological conditions and controls we report a statistically significant trend for aluminum to be increased only in AD, DS and DDS compared to age- and gender-matched brains from the same anatomical region. The results continue to suggest that aluminum's association with AD, DDS and DS brain tissues may contribute to the neuropathology of these neurological diseases but appear not to be a significant factor in other common disorders of the human central nervous system (CNS).

Analysis of Downs syndrome with molecular techniques for future diagnoses.

Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel's laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Presently, whole exome sequencing (WES) has largely contributed in identifying the new disease-causing genes and represented a significant breakthrough in the field of human genetics and this technique uses high throughput sequencing technologies to determine the arrangement of DNA base pairs specifying the protein coding regions of an individual's genome. Apart from this next generation sequencing and whole genome sequencing also contribute for identifying the disease marker. From this review, the suggestion was to perform the WES is DS children to identify the marker region.

Robertsonian translocation T (21; 21) in a female born to normal parents: a case report.

Downs syndrome (DS) occurs due to an extra copy of chromosome 21. About 3% of cases of Downs syndrome occur due to Robertsonian translocation, most commonly t (14; 21), other types of translocations are very rare cause of the syndrome. A 10-year-old patient with mental retardation was admitted following road traffic accident. Patient had flabby muscles, had delayed mile stones, stunted growth for the age, slanting of eyes, flat nasal bridge, and ineligible speech. On cytogenetic analysis the patient had karyotype showing one normal chromosome 21 and one Robertsonian translocation t (21; 21). Parents and siblings of the patient were phenotypically normal. Robertsonian translocation t (21; 21), can occur by transmission from carrier parent, due to ovarian mosaicism for Robertsonian translocation or may appear de novo. In the present case as the parents had normal karyotype and siblings were phenotypically normal, Robertsonian translocation probably have arisen de novo. The present case was a case of Downs syndrome with Robertsonian translocation t (21;21) probably arising de novo.

Congenital leukemia.

Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85-88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirmed on bone marrow by flowcytometry. Karyotyping revealed Trisomy 21.

Caracterización de mutaciones en el gen GATA-1 en pacientes con Síndrome de Down y diagnóstico de mielopoyesis anormal transitoria o leucemia megacarioblástica aguda / Mutation characterization in the GATA-1 gene in patients with Downs Syndrome diagnosed with transient abnormal myelopoiesis or acute megakaryoblastic leukemia

Los pacientes con síndrome de Down tienen un riesgo más elevado de presentar leucemia megacarioblástica aguda (LMCA). Un 10% de los recién nacidos con ese síndrome presentan un cuadro de mielopoyesis anormal transitoria (MAT), indistinguible de la LMCA, que en general remite espontáneamente. En ambos grupos de pacientes se describió una alta incidencia de mutaciones en el gen GATA-1. Se analizaron 14 muestras de ADN de médula ósea (10 MAT/4 LMCA) correspondientes a 13 pacientes con Síndrome de Down mediante PCR y secuenciación, para describir la frecuencia y las características de las mutaciones en el gen GATA-1 en la población estudiada y sus consecuencias a nivel proteico. Se detectaron mutaciones en 10 de 10 MAT y en 3 de 4 LMCA, que a nivel proteico originarían un codón de terminación prematuro (n= 5), alteraciones en el sitio de corte y empalme (splicing) (n= 6) o cambio de secuencia (n= 3). Se confrmó la alta frecuencia de mutaciones en el gen GATA-1 en recién nacidos con Síndrome de Down y MAT o LMCA.(AU)

Patients with Downs Syndrome have a higher risk of developing acute megakaryoblastic leukemia (AML). Ten per cent of newborn infants with this syndrome have transient abnormal myelopoiesis (TAM), indistinguishable from AML, which generally remits spontaneously. A high incidence of GATA-1 gene mutations was described in both groups of patients. Fourteen bone marrow DNA samples (10 ATM/4 AML) were analyzed by PCR and sequencing; these samples were obtained from 13 patients with Downs Syndrome to describe the rate and mutation characteristics of the GATA-1 gene in the studied population and its consequences at a protein level. Mutations were detected in 10 out of 10 TAM and in 3 out of 4 AML, which at a protein level would result in an early termination codon (n= 5), alterations in the splicing site (n= 6) or sequence change (n= 3). The high rate of GATA-1 gene mutations was confirmed in newborn infants with Downs Syndrome and MAT or AML.(AU)

Desenvolvimento, escolarização e síndrome de Down: expectativas maternas / Development, schooling and Down syndrome: mother's expectations / Desarrollo, escolarización y síndrome de Down: expectativas maternas

O presente estudo teve por objetivo investigar as expectativas maternas em relação ao desenvolvimento e escolarização do filho com síndrome de Down, a partir de uma perspectiva psicanalítica. Foi realizado um estudo qualitativo, por meio de entrevistas, que foram gravadas, transcritas e posteriormente analisadas, a partir de análise qualitativa de conteúdo. Participaram do estudo 12 mães de pessoas com síndrome de Down, com idades entre dois meses e 23 anos. Os resultados revelaram que o diagnóstico de síndrome de Down gera impacto nas mães. Em decorrência disso, as mães apresentaram dificuldade de construir expectativas em relação ao desenvolvimento e escolarização. Ressalta-se a importância do apoio e acompanhamento da mãe, no que se refere ao exercício da maternidade, bem como de professores que acompanharão o aluno com síndrome de Down a partir da idade escolar.(AU)

The present study aimed to investigate the mother's expectations in relation to the development and schooling of the child with Down's syndrome, based on a psychoanalytic approach. A qualitative study was carried through, by means of interviews, which have been recorded, transcribed and later analyzed, from qualitative content analysis. Twelve mothers of individuals with Down's syndrome, ages between two months and 23 years, have participated of the study. The results have disclosed that the diagnosis of syndrome of Down generates impact in the mothers. In this result, the mothers have presented difficulty to construct positive expectations in relation to the development and schooling of their children. The importance of a support and following closer of the mother is standing out, as for the exercise of the motherhood, as well as of teachers who will follow up the pupil with Down's syndrome in the school age.(AU)

El presente estudio tuvo por objetivo investigar las expectativas maternas con relación al desarrollo y la escolarización de hijos con síndrome de Down, basado en una discusión psicoanalítica. Fue realizado un estudio cualitativo, a través de entrevistas, que fueron grabadas, transcritas y posteriormente analizadas, a partir del análisis cualitativo de contenido. Participaron del estudio 12 madres de personas con síndromes de Down, entre 2 meses y 23 años de edad. Los resultados revelan que el diagnóstico del síndrome de Down genera un impacto importante en las madres. Como consecuencia de ello, las madres presentan dificultades en construir expectativas respecto al desarrollo y escolarización de los hijos. El artículo destaca la importancia del apoyo y de la atención psicológica a la madre, relacionada al ejercicio de la maternidad, bien como a los maestros que acompañarán el alumno con síndrome de Down a partir de la edad escolar.(AU)

Desenvolvimento, escolarização e síndrome de Down: expectativas maternas / Development, schooling and Down syndrome: mother's expectations / Desarrollo, escolarización y síndrome de Down: expectativas maternas

O presente estudo teve por objetivo investigar as expectativas maternas em relação ao desenvolvimento e escolarização do filho com síndrome de Down, a partir de uma perspectiva psicanalítica. Foi realizado um estudo qualitativo, por meio de entrevistas, que foram gravadas, transcritas e posteriormente analisadas, a partir de análise qualitativa de conteúdo. Participaram do estudo 12 mães de pessoas com síndrome de Down, com idades entre dois meses e 23 anos. Os resultados revelaram que o diagnóstico de síndrome de Down gera impacto nas mães. Em decorrência disso, as mães apresentaram dificuldade de construir expectativas em relação ao desenvolvimento e escolarização. Ressalta-se a importância do apoio e acompanhamento da mãe, no que se refere ao exercício da maternidade, bem como de professores que acompanharão o aluno com síndrome de Down a partir da idade escolar.

The present study aimed to investigate the mother's expectations in relation to the development and schooling of the child with Down's syndrome, based on a psychoanalytic approach. A qualitative study was carried through, by means of interviews, which have been recorded, transcribed and later analyzed, from qualitative content analysis. Twelve mothers of individuals with Down's syndrome, ages between two months and 23 years, have participated of the study. The results have disclosed that the diagnosis of syndrome of Down generates impact in the mothers. In this result, the mothers have presented difficulty to construct positive expectations in relation to the development and schooling of their children. The importance of a support and following closer of the mother is standing out, as for the exercise of the motherhood, as well as of teachers who will follow up the pupil with Down's syndrome in the school age.

El presente estudio tuvo por objetivo investigar las expectativas maternas con relación al desarrollo y la escolarización de hijos con síndrome de Down, basado en una discusión psicoanalítica. Fue realizado un estudio cualitativo, a través de entrevistas, que fueron grabadas, transcritas y posteriormente analizadas, a partir del análisis cualitativo de contenido. Participaron del estudio 12 madres de personas con síndromes de Down, entre 2 meses y 23 años de edad. Los resultados revelan que el diagnóstico del síndrome de Down genera un impacto importante en las madres. Como consecuencia de ello, las madres presentan dificultades en construir expectativas respecto al desarrollo y escolarización de los hijos. El artículo destaca la importancia del apoyo y de la atención psicológica a la madre, relacionada al ejercicio de la maternidad, bien como a los maestros que acompañarán el alumno con síndrome de Down a partir de la edad escolar.

Síndrome de Down, sentidos e significados: contribuições da teoria histórico-cultural / Sense and meaning in Down Syndrome: contributions from the historical-cultural theory

Fundamentado na teoria histórico-cultural de desenvolvimento humano, o artigo objetiva analisar o sentido pessoal e o significado social da síndrome de Down atribuídos por uma jovem com essa anomalia, bem como as dimensões de escolarização e de socialização constituídas pela deficiência. Trata-se de estudo de caso, em que participam uma jovem com a Síndrome, seus familiares e professores. Os procedimentos de pesquisa centraram-se em entrevistas, bem como na convivência com a jovem durante um ano. Foram registrados e analisados as atividades e os diálogos realizados nos encontros a partir de categorias tais como: a percepção da jovem sobre a sua condição de deficiência, aspectos de socialização e de escolarização. Observou-se que tanto a jovem quanto as pessoas que se relacionam com ela construíram explicações que, embora reflitam preconceitos vigentes na sociedade sobre a síndrome, procuram questionar o lugar da deficiência no processo de socialização e de escolarização.

Based on historical-cultural theory about human development, this article aims to analyze the personal and social meaning of Down syndrome to a young carrier of this anomaly. It also analyzes the aspects of the schooling and socialization processes using the method of case study. The participants were a female youth with Down Syndrome, her family and teachers. The procedures used in the research were interviews as well coexistence with the youth during a year. The activities and the dialogues produced into the meetings were analyzed according to the following categories: perception of deficiency, socialization and schooling aspects. The results consider that both the youth and her relationships constructed an explanation that, on one hand reflects existing social prejudices, but, on the other hand, questions the place of handicapped people in socializing and schooling processes.

Síndrome de Down, sentidos e significados: contribuições da teoria histórico-cultural / Sense and meaning in Down Syndrome: contributions from the historical-cultural theory

Fundamentado na teoria histórico-cultural de desenvolvimento humano, o artigo objetiva analisar o sentido pessoal e o significado social da síndrome de Down atribuídos por uma jovem com essa anomalia, bem como as dimensões de escolarização e de socialização constituídas pela deficiência. Trata-se de estudo de caso, em que participam uma jovem com a Síndrome, seus familiares e professores. Os procedimentos de pesquisa centraram-se em entrevistas, bem como na convivência com a jovem durante um ano. Foram registrados e analisados as atividades e os diálogos realizados nos encontros a partir de categorias tais como: a percepção da jovem sobre a sua condição de deficiência, aspectos de socialização e de escolarização. Observou-se que tanto a jovem quanto as pessoas que se relacionam com ela construíram explicações que, embora reflitam preconceitos vigentes na sociedade sobre a síndrome, procuram questionar o lugar da deficiência no processo de socialização e de escolarização(AU)

Based on historical-cultural theory about human development, this article aims to analyze the personal and social meaning of Down syndrome to a young carrier of this anomaly. It also analyzes the aspects of the schooling and socialization processes using the method of case study. The participants were a female youth with Down Syndrome, her family and teachers. The procedures used in the research were interviews as well coexistence with the youth during a year. The activities and the dialogues produced into the meetings were analyzed according to the following categories: perception of deficiency, socialization and schooling aspects. The results consider that both the youth and her relationships constructed an explanation that, on one hand reflects existing social prejudices, but, on the other hand, questions the place of handicapped people in socializing and schooling processes(AU)