Lymphatic malformation in human fetuses

Putte, S. C. J. van der

doi:10.1007/bf00432399

Cited by 88 publications

(6 citation statements)

References 22 publications

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“…Although mechanical factors may slow lymph vessel development [56], the evidence seems to indicate that the cascade of events leading to jugular lymphatic obstruction se-quence in TS is determined by a global factor due to a retardation in the development of the early lymphatic primordia. Hypoplasia of the lymphatic vessels is probably a basic disorder in TS.…”

Section: Congenital Heart Diseasementioning

confidence: 99%

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The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

Álvarez-Nava¹

2021

Preprint

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Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birthweight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

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Section: Congenital Heart Diseasementioning

confidence: 99%

“…Hypoplasia of the lymphatic vessels is probably a basic disorder in TS. The histopathological pattern is described as lymphatic vessels that are wide and thin-walled, possessing few or no valves [56,57]. The etiology of hypoplastic lymph vessels may be intrinsic to lymphatic endothelial cells and related to cell proliferation.…”

Section: Congenital Heart Diseasementioning

confidence: 99%

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

Álvarez-Nava¹

2021

Preprint

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“…A sequência da obstrução linfática jugular na formação embrionária decorre de falha na conexão das estruturas linfáticas e venosas em nível jugular, 36 levando a distensão linfática nucal e aumento da pressão no sistema linfático caso o bloqueio persista, gerando distúrbios dos linfáticos periféricos e tecidos subjacentes. Geralmente, este processo leva a óbito fetal, mas, se as veias jugulares e os sacos linfáticos se conectarem, ou se ocorrer drenagem linfática por via alternativa, o edema pode regredir e causar manifestações como implantação baixa dos cabelos na nuca (40%), pescoço alado (25%) e linfedema em dorso de mãos e (ou) pés (20%).…”

Section: Falhas Na Conexão De Estruturas Linfáticasunclassified

Importância da altura na qualidade de vida relacionada à saúde na Síndrome de Turner

Reis¹

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Introduction: Patients with Turner syndrome (TS) have variable clinical features, of which gonadal dysgenesis and short stature are the most frequent conditions. There is still no consensus in the current literature regarding the aspects that influence the Health Related Quality of Life (HRQoL) in women with TS, making it necessary to analyze the HRQoL of these patients in more detail. Objectives: To compare the components and domains of the Medical Outcomes Study 36 -Short-Form Health Survey (SF-36) between the TS and control groups regarding general HRQOL and the influence of the historical final height (HFH) of the service; to compare the components and domains of the SF-36 in the TS and control group regarding the median height and nutritional classification of each group; to compare the HRQoL in the TS group in relation to the adequacy to the parental target height and satisfaction, discomfort and desire to change height, weight and physical appearance; compare the number of participants in each group regarding satisfaction, discomfort and desire to change height, weight and physical appearance. Method:Observational, descriptive and cross-sectional study with 44 women with TS who were between 18 and 30 years old and a control group composed of 44 healthy women of the same age (sisters, relatives or friends of the TS group). A registration form, the SF-36 and a closed questionnaire developed for this study to analyze aspects that could be considered important for HRQoL of TS patients were used. Results: The TS group presented better scores in the mental component and in the domains role limitations due to physical health, bodily pain, general health, social functioning, role limitations due to emotional problems in relation to the control group. Regarding the influence of HFH, the ST group was divided into participants with height ≥ HFH and < HFH, and there were no differences in the SF-36 scores of these groups, but both presented better scores on role limitations due to physical health and role limitations due to emotional problems in relation to the control group. In addition, the TS group with height ≥ HFH presented a better score in the mental component than the control group. There was no significant difference in HRQoL in the TS group and in the control group, considering the median height and the nutritional classification of each group. In the TS group, the adequacy to the parental target also did * Teste Mann-Whitney. Os dados foram expressos em mediana, mínimo e máximo. ST: Síndrome de Turner, CF: Componente Físico, CM: Componente Mental.

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“…Alguns desses sinais podem ser explicados pela haploinsuficiência do gene SHOX, que tem influência sobre o momento da fusão da placa de crescimento, a maturação esquelética e a formação dos ossos longos e dos derivados dos primeiros arcos branquiais, levando a baixa estatura e outras alterações esqueléticas como hipoplasia do IV metacarpo e metatarsos, cúbito valgo, mesomelia (encurtamento dos braços e pernas), deformidade de Madelung, palato ogival, micrognatia e retrognatismo, e também a perda auditiva neurossensorial (65,66) Outros sinais são decorrentes da chamada sequência da obstrução linfática jugular . (67) Esse processo geralmente resulta em hidropisia fetal e óbito intraútero;…”

Section: C1) Sinais Dismórficosunclassified

“…clínicas, como pavilhões auriculares inclinados para trás, implantação baixa dos cabelos na nuca e redundância de pele no pescoço da recém-nascida, que é resultante da redução do higroma cístico (67) Com o passar dos anos, as dobras de pele se organizam nas pregas pterigo-nucais, levando ao pescoço alado. Também são decorrentes das alterações linfáticas o linfedema em dorso de mãos e (ou) pés que pode ser observado nas recém-nascidas e que, frequentemente, regride nos primeiros anos de vida, além da hiperconvexidade ungueal ou displasia ungueal grave.…”

Section: C1) Sinais Dismórficosunclassified

Avaliação clínica de pacientes com suspeita de Síndrome de Turner diagnosticadas em um serviço universitário de referência

Carvalho¹

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Aos meus amados pais, Graça e Fred, que sempre iluminam o caminho da minha vida. viii ix AGRADECIMENTOS O principal agradecimento é a Deus, por iluminar sempre minha caminhada. Agradeço pela graça do meu filho, Victor, tão amado e especial. Agradeço aos meus pais, Graça e Fred, meu ponto de equilíbrio, pelo imenso apoio nos momentos difíceis e pelas comemorações em razão de cada conquista alcançada. Ao meu marido, Daniel, sempre ao meu lado em todos os momentos. Pelos sorrisos, pelo cuidado carinhoso e por mostrar que sonhos podem ser reais. A meu irmão Ivo, minhas cunhadas Adriana e Monique, que sempre me incentivaram e torceram pela minha vitória. Agradeço a Prof.ª Dr.ª Andréa Trevas Maciel-Guerra, por ser mais do que minha orientadora, por acreditar na minha capacidade e no meu crescimento profissional, pelo apoio em todos os momentos, pela incansável tentativa de sempre fazer o melhor. Aos meus Professores Doutores Sofia Lemos Marine e Gil Guerra Junior, que me ensinaram os encantos da Endocrinologia Pediátrica, e assim serviram de incentivo e exemplo para mim. Agradeço a todos os meus professores da residência médica em Pediatria e Endocrinologia Pediátrica, a Unicamp, à secretaria da Genética Médica, a todos os que contribuíram para o meu crescimento profissional e pessoal. Muitíssimo obrigada. A todas as outras pessoas que, direta ou indiretamente, colaboraram com o sucesso deste trabalho. x xi "Não existem pessoas de sucesso e pessoas fracassadas. O que existe são pessoas que lutam pelos seus sonhos ou desistem deles.

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Lymphatic malformation in human fetuses

Cited by 88 publications

References 22 publications

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

Importância da altura na qualidade de vida relacionada à saúde na Síndrome de Turner

Avaliação clínica de pacientes com suspeita de Síndrome de Turner diagnosticadas em um serviço universitário de referência

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