Socioeconomic status in patients with Turner syndrome

Noordman, Iris; Velden, Janiëlle Aem. van der; Timmers, Henri J L M; Reisch, Nicole; Richter‐Unruh, Annette; Pienkowksi, Catherine; Roeleveld, Nel; Grinten, Hedi L Claahsen–van der

doi:10.1016/j.cpnec.2021.100030

Cited by 7 publications

(5 citation statements)

References 28 publications

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“…Patients with TS often have lower QoL, particularly in psychosocial aspects, despite maintaining a stable socioeconomic status (Statement C8) [ 70 , 71 ]. Life satisfaction is influenced by personal factors, and attention to self-perception and health-related sentiments is critical for improving QoL [ 72 ].…”

Section: Resultsmentioning

confidence: 99%

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

Aversa,

De Sanctis,

Faienza

et al. 2024

J Endocrinol Invest

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Purpose Transition from pediatric to adult care is associated with significant challenges in patients with Turner syndrome (TS). The objective of the TRansition Age Management In Turner syndrome in Italy (TRAMITI) project was to improve the care provided to patients with TS by harnessing the knowledge and expertise of various Italian centers through a Delphi-like consensus process. Methods A panel of 15 physicians and 1 psychologist discussed 4 key domains: transition and referral, sexual and bone health and oncological risks, social and psychological aspects and systemic and metabolic disorders. Results A total of 41 consensus statements were drafted. The transition from pediatric to adult care is a critical period for patients with TS, necessitating tailored approaches and early disclosure of the diagnosis to promote self-reliance and healthcare autonomy. Fertility preservation and bone health strategies are recommended to mitigate long-term complications, and psychiatric evaluations are recommended to address the increased prevalence of anxiety and depression. The consensus also addresses the heightened risk of metabolic, cardiovascular and autoimmune disorders in patients with TS; regular screenings and interventions are advised to manage these conditions effectively. In addition, cardiac abnormalities, including aortic dissections, require regular monitoring and early surgical intervention if certain criteria are met. Conclusions The TRAMITI consensus statement provides valuable insights and evidence-based recommendations to guide healthcare practitioners in delivering comprehensive and patient-centered care for patients with TS. By addressing the complex medical and psychosocial aspects of the condition, this consensus aims to enhance TS management and improve the overall well-being and long-term outcomes of these individuals.

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Section: Resultsmentioning

confidence: 99%

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

Aversa,

De Sanctis,

Faienza

et al. 2024

J Endocrinol Invest

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“…Short stature is a hallmark feature of mosaic Turner syndrome and 45, X/46, XY mosaicism. 21 22 23 Although our follow-up was not long enough to observe the abnormalities in the reproductive system, all of the 11 children who were prenatally diagnosed as X monosomy mosaicism were of normal height. This is consistent with Tuke's study on an adult population with mosaic Turner syndrome.…”

Section: Discussionmentioning

confidence: 97%

Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis

et al. 2023

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Objective The prenatal diagnosis of chromosomal mosaicism is fraught with uncertainty. Karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) are three commonly used techniques. In this study, we evaluated these techniques for the prenatal diagnosis of chromosomal mosaicism and its clinical outcome. Study Design A retrospective review of mosaicism was conducted in 18,369 pregnant women from January 2016 to November 2021. The subjects underwent amniocentesis to obtain amniotic fluid for G-band karyotyping with or without CMA/FISH. Cases diagnosed with chromosomal mosaicism were selected for further analysis. Results In total, 101 cases of chromosomal mosaicism were detected in 100 pregnant women (0.54%, 100/18,369). Four were lost during follow-up, 61 opted to terminate their pregnancy, and 35 gave birth to a healthy singleton or twins. Among these 35 cases, postnatal cytogenetic testing was performed on eight and two exhibited mosaicism; however, nothing abnormal was observed in the postnatal phenotype follow-up. Karyotyping identified 96 incidents of chromosomal mosaicism including 13 with level II mosaicism and 83 with level III mosaicism, FISH identified 37 cases of mosaicism, and CMA identified 17. The most common form of chromosomal mosaicism involved monosomy X, of which the mosaic fraction in cultured karyotyping appeared higher or comparable to uncultured FISH/CMA (p < 0.05). Discordant mosaic results were observed in 34 of 101 cases (33.7%), most of which resulted from the detection limit of different techniques and/or the dominant growth of a certain cell line. Conclusion Based on the postnatal follow-up results from the babies born, we obtained a more hopeful result for the prognosis of chromosomal mosaicism. Although karyotyping was the most sensitive method for detecting chromosomal mosaicism, artifacts and bias resulting from culture should be considered, particularly for sex chromosomal abnormalities involving X monosomy, in which the combination with uncultured FISH was necessary. Key Points

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“…They are commonly infertile but have a normal level of intelligence. The socioeconomic status of the women with Turner syndrome is generally comparable with the reference population, although they were less frequently living with a partner or having social activities 62 . There is no cure for Turner syndrome.…”

Section: Introductionmentioning

confidence: 87%

“…The socioeconomic status of the women with Turner syndrome is generally comparable with the reference population, although they were less frequently living with a partner or having social activities. 62 There is no cure for Turner syndrome. Growth hormone may help girls to reach nearly average height.…”

Section: Casementioning

confidence: 99%

How much energy is needed to keep the stored cellular mass and energy free of errors: Case studies

Semerciöz

Özilgen

2022

Energy Storage

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Nobel‐winning scientist Erwin Schrödinger in his study “What is life?” (1934) hypothesized that organisms import energy and export entropy to survive. Since the publication of this study, our knowledge about “how entropy is generated within the body and exported” has increased tremendously. In the 1970s and 1980s, “maintenance energy” was used extensively in microbiological analyses, merely as a proportionality constant relating cellular proliferation to energy utilization. In 2015, Aziz Sancar, Tomas Lindahl, and Paul L. Modrich shared the Nobel prize for their studies regarding DNA repair. In these research works, scientists tried to explain how organisms were trying to reduce the entropy accumulated within their structures. This study assesses different cases of energy utilization by the cellular systems to maintain their reserves error free in the light of the recent findings. In every case, assessed huge energy requirements were found.

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Socioeconomic status in patients with Turner syndrome

Cited by 7 publications

References 28 publications

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis

How much energy is needed to keep the stored cellular mass and energy free of errors: Case studies

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