scholarly journals Epigallocatechin-3-Gallate Improves Facial Dysmorphology Associated with Down Syndrome

2018 ◽  
Author(s):  
John M. Starbuck ◽  
Sergi Llambrich ◽  
Ruben González ◽  
Julia Albaigès ◽  
Anna Sarlé ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Current Evidence ◽  
High Dose ◽  
Facial Morphology ◽  
Egcg Treatment ◽  
Health Promoting ◽  
Potential Benefits ◽  
Facial Development ◽  
First Time

AbstractIn Down syndrome (DS), the overall genetic imbalance caused by trisomy of chromosome 21 leads to a complex pleiotropic phenotype that involves a recognizable set of facial traits. Several studies have shown the potential of epigallocatechin-3-gallate (EGCG), a green tea flavanol, as a therapeutic tool for alleviating different developmental alterations associated with DS, such as cognitive impairment, skull dysmorphologies, and skeletal deficiencies. Here we provide for the first time experimental and clinical evidence of the potential benefits of EGCG treatment to facial morphology. Our results showed that mouse models treated with low dose of EGCG during pre- and postnatal development improved facial dysmorphology. However, the same treatment at high dose produced disparate facial morphology changes with an extremely wide and abnormal range of variation. Our observational study in humans revealed that EGCG treatment since early in development is associated with intermediate facial phenotypes and significant facial improvement scores. Overall, our findings suggest a potential beneficial effect of ECGC on facial development, which requires further research to pinpoint the optimal dosages of EGCG that reliably improve DS phenotypes. Current evidence warns against the non-prescribed intake of this supplement as a health-promoting measure.

scholarly journals Was facial width-to-height ratio subject to sexual selection pressures? A life course approach

2020 ◽  
Author(s):  
Carolyn R. Hodges-Simeon ◽  
Graham Albert ◽  
George B. Richardson ◽  
Timothy S. McHale ◽  
Seth M. Weinberg ◽  
...  
Keyword(s):  
Sex Differences ◽  
Sexual Selection ◽  
Current Evidence ◽  
Facial Morphology ◽  
Facial Growth ◽  
Height Ratio ◽  
Lower Face ◽  
Male Adolescents ◽  
Classic Pattern ◽  
Facial Development

AbstractSexual selection researchers have traditionally focused on adult sex differences; however, the schedule and pattern of sex-specific ontogeny can provide insights unobtainable from an exclusive focus on adults. Recently, it has been debated whether facial width-to-height ratio (fWHR; bi-zygomatic breadth divided by midface height) is a human secondary sexual characteristic (SSC). Here, we review current evidence, then address this debate using ontogenetic evidence, which has been under-explored in fWHR research. Facial measurements collected from males and females aged 3 to 40 (Study 1; US, n=2449), and 7 to 21 (Study 2; Bolivia, n=179) were used to calculate three fWHR variants (which we call fWHRnasion, fWHRstomion, and fWHRbrow) and two other common facial masculinity ratios (facial width-to-lower-face-height ratio, fWHRlower, and cheekbone prominence). We test whether the observed pattern of facial development exhibits patterns indicative of SSCs, i.e. differential adolescent growth in either male or female facial morphology leading to an adult sex difference. Results showed that only fWHRlower exhibited both adult sex differences as well as the classic pattern of ontogeny for SSCs—greater lower-face growth in male adolescents relative to females. fWHRbrow was significantly wider among both pre- and post-pubertal males in the 2D sample; post-hoc analyses revealed that the effect was driven by large sex differences in brow height, with females having higher placed brows than males across ages. In both samples, all fWHR measures were inversely associated with age; that is, human facial growth is characterized by greater relative growth in the mid-face and lower face relative to facial width. This trend continues even into middle adulthood. BMI was also a positive predictor of most of the ratios across ages, with greater BMI associated with wider faces. Researchers collecting data on fWHR should target fWHRlower and fWHRbrow and should control for both age and BMI.

scholarly journals Feasibility and Potential Benefits of an Exercise Intervention in a Male With Down Syndrome Undergoing High-Dose Chemotherapy for Acute Lymphoblastic Leukemia: A Case Report

2019 ◽  
Vol 18 ◽  
pp. 153473541983235
Author(s):  
Linda Bühl ◽  
Thomas Abel ◽  
Florian Wolf ◽  
Max Oberste ◽  
Wilhelm Bloch ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Acute Lymphoblastic Leukemia ◽  
Hematological Malignancies ◽  
Exercise Intervention ◽  
Lymphoblastic Leukemia ◽  
High Dose Chemotherapy ◽  
High Dose ◽  
Serious Adverse Events ◽  
Increased Risk ◽  
Potential Benefits

In patients with hematological malignancies, exercise is studied as a supportive measure with potential benefits on therapy and disease-related side effects. However, clinical trials have not yet integrated people with Down syndrome (DS), although this disability is associated with an increased risk for hematological malignancies. Therefore, we examined safety and feasibility of a mixed-modality exercise intervention in a male with DS undergoing high-dose chemotherapy for acute lymphoblastic leukemia. Furthermore, physical capacity and fatigue were assessed. Exercise sessions took place 3 times/wk over a 5-week period. Adherence to the exercise program was 100%, and no serious adverse events occurred. In contrast to the training sessions, applied endurance testing was not feasible. Furthermore, maintenance of fatigue level was observed. In conclusion, cancer patients with DS suffering from leukemia should not be excluded from physical activity or exercise programs.

scholarly journals Green tea extracts containing epigallocatechin-3-gallate modulate facial development in Down syndrome

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
John M. Starbuck ◽  
Sergi Llambrich ◽  
Rubèn Gonzàlez ◽  
Julia Albaigès ◽  
Anna Sarlé ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Observational Study ◽  
Mouse Model ◽  
Green Tea ◽  
Human Study ◽  
Chromosome 21 ◽  
Facial Skeleton ◽  
Organ Systems ◽  
The Face ◽  
Facial Development

AbstractTrisomy of human chromosome 21 (Down syndrome, DS) alters development of multiple organ systems, including the face and underlying skeleton. Besides causing stigmata, these facial dysmorphologies can impair vital functions such as hearing, breathing, mastication, and health. To investigate the therapeutic potential of green tea extracts containing epigallocatechin-3-gallate (GTE-EGCG) for alleviating facial dysmorphologies associated with DS, we performed an experimental study with continued pre- and postnatal treatment with two doses of GTE-EGCG supplementation in a mouse model of DS, and an observational study of children with DS whose parents administered EGCG as a green tea supplement. We evaluated the effect of high (100 mg/kg/day) or low doses (30 mg/kg/day) of GTE-EGCG, administered from embryonic day 9 to post-natal day 29, on the facial skeletal development in the Ts65Dn mouse model. In a cross-sectional observational study, we assessed the facial shape in DS and evaluated the effects of self-medication with green tea extracts in children from 0 to 18 years old. The main outcomes are 3D quantitative morphometric measures of the face, acquired either with micro-computed tomography (animal study) or photogrammetry (human study). The lowest experimentally tested GTE-EGCG dose improved the facial skeleton morphology in a mouse model of DS. In humans, GTE-EGCG supplementation was associated with reduced facial dysmorphology in children with DS when treatment was administered during the first 3 years of life. However, higher GTE-EGCG dosing disrupted normal development and increased facial dysmorphology in both trisomic and euploid mice. We conclude that GTE-EGCG modulates facial development with dose-dependent effects. Considering the potentially detrimental effects observed in mice, the therapeutic relevance of controlled GTE-EGCG administration towards reducing facial dysmorphology in young children with Down syndrome has yet to be confirmed by clinical studies.

Potential Benefits From Heating the High-Dose rtPA Boluses Used in Catheter-Directed Thrombolysis for Acute/Subacute Lower Limb Ischemia

2003 ◽  
Vol 10 (4) ◽  
pp. 739-744 ◽  
Author(s):  
Dimitrios K. Tsetis ◽  
Asterios N. Katsamouris ◽  
Athanasios D. Giannoukas ◽  
Adam A. Hatzidakis ◽  
Theodoros Kostas ◽  
...  
Keyword(s):  
Lower Limb ◽  
Limb Ischemia ◽  
High Dose ◽  
Lower Limb Ischemia ◽  
Catheter Directed Thrombolysis ◽  
Potential Benefits

scholarly journals Ketamine in acute phase of severe traumatic brain injury “an old drug for new uses?”

Critical Care ◽  
2021 ◽  
Vol 25 (1) ◽  
Author(s):  
Daniel Agustin Godoy ◽  
Rafael Badenes ◽  
Paolo Pelosi ◽  
Chiara Robba
Keyword(s):  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Intracranial Pressure ◽  
Acute Phase ◽  
Severe Traumatic Brain Injury ◽  
Safety Profile ◽  
Point Of View ◽  
Current Evidence ◽  
Potential Benefits ◽  
Sedation And Analgesia

AbstractMaintaining an adequate level of sedation and analgesia plays a key role in the management of traumatic brain injury (TBI). To date, it is unclear which drug or combination of drugs is most effective in achieving these goals. Ketamine is an agent with attractive pharmacological and pharmacokinetics characteristics. Current evidence shows that ketamine does not increase and may instead decrease intracranial pressure, and its safety profile makes it a reliable tool in the prehospital environment. In this point of view, we discuss different aspects of the use of ketamine in the acute phase of TBI, with its potential benefits and pitfalls.

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

2007 ◽  
Vol 7 (3) ◽  
pp. 215-218 ◽  
Author(s):  
Frenny J Sheth ◽  
Uppala Radhakrishna ◽  
Michael A Morris ◽  
Jean-Louis Blouin ◽  
Jayesh J Sheth ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Affected Patient ◽  
Isodicentric Chromosome

scholarly journals A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inherited

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Chunyan Jin ◽  
Zhiping Gu ◽  
Xiaohan Jiang ◽  
Pei Yu ◽  
Tianhui Xu
Keyword(s):  
Down Syndrome ◽  
Pregnant Woman ◽  
Prenatal Testing ◽  
Chromosome 21 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Serological Screening ◽  
Partial Duplication ◽  
Her Family ◽  
Clinical Consequences

Abstract Background Down syndrome is characterized by trisomy 21 or partial duplication of chromosome 21. Extensive studies have focused on the identification of the Down Syndrome Critical Region (DSCR). We aim to provide evidence that duplication of 21q21.1-q21.2 should not be included in the DSCR and it has no clinical consequences on the phenotype. Case presentation Because serological screening was not performed at the appropriate gestational age, noninvasive prenatal testing (NIPT) analysis was performed for a pregnant woman with normal prenatal examinations at 22 weeks of gestation. The NIPT results revealed a 5.8 Mb maternally inherited duplication of 21q21.1-q21.2. To assess whether the fetus also carried this duplication, ultrasound-guided amniocentesis was conducted, and the result of chromosomal microarray analysis (CMA) with amniotic fluid showed a 6.7 Mb duplication of 21q21.1-q21.2 (ranging from position 18,981,715 to 25,707,009). This partial duplication of 21q21.1-q21.2 in the fetus was maternally inherited. After genetic counseling, the pregnant woman and her family decided to continue the pregnancy. Conclusion Our case clearly indicates that 21q21.1-q21.2 duplication is not included in the DSCR and most likely has no clinical consequences on phenotype.

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