scholarly journals Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

2018 ◽  
Vol Volume 8 ◽  
pp. 17-21 ◽  
Author(s):  
Edith Schussler ◽  
Rita V Linkner ◽  
Jacob Levitt ◽  
Lakshmi Mehta ◽  
John A Martignetti ◽  
...  
2020 ◽  
Vol 18 (04) ◽  
pp. 214-216
Author(s):  
Soumya Roy

AbstractA 9-year-old girl patient presented with left-sided weakness and joint contractures developing over a period of 18 months. She was known to be suffering from β-thalassemia major and was on regular blood transfusions. Eighteen months ago, she had suffered from an episode of ischemic cerebrovascular accident affecting the right side of her brain. Magnetic resonance angiogram revealed vaso-occlusive disease affecting mainly the anterior cerebral circulation, resembling Moyamoya disease. She was advised to carry out regular physiotherapy but her parents discontinued it, which resulted in the gradual development of joint contractures and muscle wasting.


2019 ◽  
Vol 61 (9) ◽  
pp. 935-937 ◽  
Author(s):  
Kazuhiro Takahashi ◽  
Kenzo Sakurai ◽  
Kiyotaka Takefuta ◽  
Mami Nakayashiro

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi-chang Chen ◽  
Keh-chung Lin ◽  
Chen-Jung Chen ◽  
Shu-Hui Yeh ◽  
Ay-Woan Pan ◽  
...  

Abstract Background Joint contractures, which affect activity, participation, and quality of life, are common complications of neurological conditions among elderly residents in long-term care facilities. This study examined the reliability and validity of the Chinese version of the PaArticular Scales in a population with joint contractures. Methods A cross-sectional study design was used. The sample included elderly residents older than 64 years with joint contractures in an important joint who had lived at one of 12 long-term care facilities in Taiwan for more than 6 months (N = 243). The Chinese version of the PaArticular Scales for joint contractures was generated from the English version through five stages: translation, review, back-translation, review by a panel of specialists, and a pretest. Test-retest reliability, internal consistency reliability, construct validity, and criterion validity were evaluated, and the results were compared with those for the World Health Organization Quality of Life scale and the World Health Organization Disability Assessment Schedule. Results The Chinese version of the PaArticular Scales had excellent reliability, with a Cronbach α coefficient of 0.975 (mean score, 28.98; standard deviation, 17.34). An exploratory factor analysis showed three factors and one factor with an eigenvalue > 1 that explained 75.176 and 62.83 % of the total variance in the Activity subscale and Participation subscale, respectively. The subscale-to-total scale correlation analysis showed Pearson correlation coefficients of 0.881 for the Activity subscale and 0.843 for the Participation subscale. Pearson’s product-moment correlation revealed that the correlation coefficient (r) between the Chinese version of the PaArticular Scales and the World Health Organization Disability Assessment Schedule was 0.770, whereas that for the World Health Organization Quality of Life scale was − 0.553; these values were interpreted as large coefficients. Conclusions The underlying theoretical model of the Chinese version of the PaArticular Scales functions well in Taiwan and has acceptable levels of reliability and validity. However, the Chinese version must be further tested for applicability and generalizability in future studies, preferably with a larger sample and in different clinical domains.


1966 ◽  
Vol 50 (3) ◽  
pp. 422-443 ◽  
Author(s):  
Thomas A. Waldmann

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 828
Author(s):  
Karolina Graczykowska ◽  
Joanna Kaczmarek ◽  
Dominika Wilczyńska ◽  
Ewa Łoś-Rycharska ◽  
Aneta Krogulska

Cow’s milk is a key component of a child’s diet. While the consumption of even trace amounts can result in allergy to its proteins and/or hypolactasia, excessive cow’s milk consumption can result in numerous health complications, including iron deficiency, due to the diet being improperly balanced. Although the incidence of iron deficiency has declined, it remains the most widespread nutritional deficiency globally and the most common cause of anemia. One rare consequence of anemia caused by iron deficiency is protein-losing enteropathy; however, the mechanisms of its development are unclear. The following manuscript, based on a literature review, presents two rare cases of children, a 16-month-old boy and a 2.5-year-old girl, who developed severe microcytic anemia, enteropathy with hypoalbuminemia, and anasarca as a result of excessive cow’s milk consumption. It highlights the possible relationship between excessive consumption of cow’s milk in children and severe iron deficiency anemia with accompanying hypoalbuminemia; it may also result in serious clinical conditions, even in children that do not demonstrate food hypersensitivity.


2012 ◽  
Vol 28 (4) ◽  
pp. 224-229
Author(s):  
Kentaro Ueno ◽  
Hideaki Nakamura ◽  
Ryohei Gatayama ◽  
Sadamitsu Yanagi ◽  
Hideaki Ueda ◽  
...  

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