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11.
Hisham Alkuraya Nisha Patel Niema Ibrahim Bandar Al Ghamdi Sulaiman M. Alsulaiman Sawsan R. Nowilaty Emad Abboud Ramadan Alturki Abdullah Alkharashi Wafaa Eyaid Zainab Almasseri Hamad Alzaidan Mohammed D. Alotaibi Ahmed M. Abu El-Asrar Bandar Alamro Rana Helaby Amani Elshaer Naif A.M. Almontashiri Abdulrahman A. Al-Hussaini Fowzan S. Alkuraya 《Clinical genetics》2020,97(3):447-456
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications. 相似文献
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Whereas primary cardiac tumors are reported in only 0.17 % of pediatric patients, malignant cardiac tumors are even less common in children. This report presents a 10-year-old child with relapsed osteosarcoma manifesting as metastatic lesions to the interventricular septum. 相似文献
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Sabrina Mejdoub Hend Hachicha Lamia Gargouri Sawsan Feki Abdelmajid Mahfoudh Hatem Masmoudi 《La Tunisie médicale》2021,99(10):982
Background: Antinuclear antibodies (ANA) test is used to screen adults as well as children for connective tissue diseases (CTD) and autoimmune hepatitis. However, interpretation of ANA positivity can be delicate. Aim: to determine clinical significance and diagnosis utility of ANA positivity in children. Methods: Patients from a general pediatric department with ANA positive results were included (follow-up period of 2 years). ANA screening was performed by indirect immunofluorescence (IIF) on HEp-2 cells substrate (BioSystems®). In case of ANA positivity (cut-off: 1:80), the specificity was determined by IIF on Crithidia luciliea substrate (BioSystems®) and immunodot (Euroimmun®). Results: Among 102 ANA tests, 55 (53,9%) were positive. We recorded the data of 38 patients (age average: 9,5 years - sex ratio: 0.72). The most frequent signs were join pain (55,3%). ANA titer varied between 1:80 (39,5% of cases) and 1:1280 (2,6% of cases). Typing was negative in 89,5% of cases. The majority (42,1%) of children with positive ANA test had musculoskeletal diseases. The others (57,9%) had systemic lupus erythematosus(n=2), overlap syndrome(n=1), rheumatoid purpura(n=2), idiopathic thrombocytopenic purpura(n=1), coeliac disease(n=1) or non-autoimmune diseases/no confirmed diagnosis(n=15). Conclusions: ANA prevalence in children was relatively high. When the pretest probability is low, the positive predictive value for CTD or autoimmune hepatitis is low. However, depending on the clinical context, ANA detection can represent a supplement diagnostic tool for these diseases and/or can lead to a clinico-biological monitoring. 相似文献
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Raya Saab MD Anas Obeid MD Fatiha Gachi MD Houda Boudiaf MD Lilit Sargsyan MD Khulood Al-Saad MD Tamar Javakhadze MD Azim Mehrvar MD Sawsan Sati Abbas MD Yasir Saadoon Abed Al-Agele MD Salma Al-Haddad MD Mouroge Hashim Al Ani MD Suleiman Al-Sweedan MD Amani Al Kofide MD Wasil Jastaniah MD Nisreen Khalifa MD Elie Bechara MD Malek Baassiri MD Peter Noun MD Jamila El-Houdzi MD Mohammed Khattab MD Krishna Sagar Sharma MD Yasser Wali MD Naureen Mushtaq MD Aliya Batool MD Mahwish Faizan MD Muhammad Rafie Raza MD Mohammad Najajreh MD Mohammed Awad Mohammed Abdallah MD Ghada Sousan MD Khaled M. Ghanem MD Ulker Kocak MD Tezer Kutluk MD Hacı Ahmet Demir MD Hamoud Hodeish MD Samar Muwakkit MD Asim Belgaumi MD Abdul-Hakim Al-Rawas MD Sima Jeha MD 《Cancer》2020,126(18):4235-4245
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Bikhazi AB Skoury MM Zwainy DS Jurjus AR Kreydiyyeh SI Smith DE Audette K Jacques D 《Molecular pharmaceutics》2004,1(4):300-308
This investigation focused on studying the effects of insulin-dependent diabetes mellitus and insulin treatment on absorption of glycylsarcosine (Gly-Sar) across the Sprague-Dawley rat jejunum, using in situ perfusion in a physiologic acidic microenvironment at pH 6.0. Rats were divided into five groups: normal controls in group I, normal colchicine-treated rats in group II, normal cytochalasin-treated rats in group III, streptozotocin-induced diabetic rats in group IV, and insulin-treated diabetic rats in group V. Histologic studies of the five different groups showed morphologic changes upon induction of diabetes and treatments with colchicine and cytochalasin and several variations in post-1 month diabetic rats treated with insulin. The rate of uptake of Gly-Sar was significantly reduced in the diabetic state. The comparison of colchicine-treated and cytochalasin-treated rats to the diabetic group suggests that an intact cytoskeleton and tight junctions may play a role in jejunal dipeptide absorption. In the diabetic and insulin-treated group, the dipeptide influx rate was significantly increased compared to that of the nontreated controls. The regulation of the PepT 1 symporter was further assessed by immunostaining and Western blot analyses in the normal, diabetic, and diabetic and insulin-treated groups. Our results showed that a downregulation of PepT 1 in the diabetics seemed to be due in part to the low systemic insulin levels, and not necessarily to hyperglycemia. In addition, the results suggest a probable role of systemic insulin binding at the vascular site of the jejunal epithelium, and the role that this hormone may be playing in the regulation and probably cellular trafficking of PepT1. 相似文献
20.
Chromium-picolinate (Cr-picolinate) is a popular nutritional supplement; however its safety has been questioned with regard to its ability to act as a clastogen. The aim of the present work was to evaluate the biochemical, histological and morphological changes in the cornea and lens following oral administration of Cr-picolinate and the possible protective effect of Vitamin C. Ninety male Sprague-Dawley rats were divided into five groups included the control group, the groups treated with Cr-picolinate (0.8 and 1.5 mg/100 g b.w.) alone or in combination with Vitamin C (0.5 mg/100 g b.w.) for 8 weeks. The results indicated that the high dose of Cr-picolinate induced a significant decrease in SOD, GSH, Na(+)-, K(+)-ATPase levels, and a significant increase in MDA level. Severe morphological and histological changes in the cornea and lens accompanied with a decrease in the total soluble protein of the lens homogenate and changes in the crystalline fractions in lens. Vitamin C supplementation succeeded to restore these changes to great extent. It could be concluded that consumption of Cr-picolinate for a long time induced several hazards to cornea and lens. Supplementation with extra amounts of Vitamin C may be useful to restrain the Cr-picolinate induced ocular changes. 相似文献