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Amin J. Barakat Margarita Raygada Owen M. Rennert 《American journal of medical genetics. Part A》2018,176(6):1341-1348
Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in 1977 . It is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” sensorineural deafness “D,” and renal disease “R.” The defect is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. Although the syndrome has been phenotypically defined by this triad the literature identifies cases with different components with, or without GATA3 defects making the definition of the syndrome confusing. We analyzed 180 cases and attempted to define the phenotype of the syndrome and suggest guidelines for diagnosis. We suggest that the diagnosis could be confirmed in patients who have all three components, and in those who have two components with a positive family history. GATA3 testing is optional to establish the diagnosis in these patients. The syndrome should be considered in patients with isolated “D” where other causes of “D” have been excluded and those with isolated “R,” especially if there is family history of any of these components. In these instances, confirmatory GATA3 testing is indicated to confirm the diagnosis. In patients with nonsurgical “H,” where “D” and “R” have been conclusively ruled out GATA3 studies are not needed as none of these patients were shown to be GATA3 haploinsufficient. Only 64.4% of patients in our review had “HDR.” Some findings might have not been recognized or may could have appeared later in life, but it is evident that this syndrome is genotypically heterogeneous. 相似文献
94.
Unusual hepatic-portal-systemic shunting demonstrated by Doppler sonography in children with congenital hepatic vein ostial occlusion 总被引:2,自引:0,他引:2
Barakat M 《Journal of clinical ultrasound : JCU》2004,32(4):172-178
PURPOSE: This report describes unusual changes in the hepatic vasculature in 3 children presenting with upper gastrointestinal hemorrhage. METHODS: The study included 3 children (ages 5-8 years) who presented with hematemesis. All had mild hepatosplenomegaly and normal liver function. Esophageal varices were demonstrated in all on upper endoscopy. Color and spectral Doppler sonography was performed to assess the hepatic vasculature, including the hepatic veins (HVs), portal vein (PV), hepatic artery (HA), and inferior vena cava (IVC). RESULTS: The HVs were all patent but with ostial occlusion at the point of their communication with the IVC. Complete flow reversal was shown inside the HVs, with blood draining into collateral vessels at the liver surface and paraumbilical vein. In one patient, the paraumbilical vein could be traced to its communication with the right external iliac vein. In all children, the direction of flow in the PV, HA, and IVC was normal. After endoscopic sclerotherapy, all children were shown to be in good general condition and to have normal liver function for a follow-up period of 15-36 months. CONCLUSIONS: Ostial occlusion of the HV is a rare cause of hepatic outflow obstruction in children. Doppler sonography is a valuable, noninvasive imaging technique for evaluation of the hepatic vasculature and the accompanying shunting pathways in such cases. 相似文献
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Hassan K Khakhiashvili A Awawdeh M Afraimovitch I Hassan S Kristal B 《Romanian journal of gastroenterology》2005,14(2):173-175
Gallstones are usually asymptomatic in the majority of patients. Gallstones can migrate through a cholecysto-duodenal fistula and may cause an intestinal obstruction anywhere along the gastrointestinal tract. The obstruction usually occurs at the level of the ileocecal valve. In most cases, the clinical presentation includes symptoms related to the intestinal obstruction including abdominal pain and vomiting. We report an unusual case of gallstones presented with acute prerenal azotemia as the major manifestation. 相似文献
97.
Shahin Merat Shadi Khalili Pardise Mostajabi Anahita Ghorbani Reza Ansari Reza Malekzadeh 《Digestive diseases and sciences》2010,55(5):1385-1390
Herbal remedies, particularly peppermint, have been reported to be helpful in controlling symptoms of irritable bowel syndrome
(IBS). We conducted a randomized double-blind placebo-controlled study on 90 outpatients with IBS. Subjects took one capsule
of enteric-coated, delayed-release peppermint oil (Colpermin) or placebo three times daily for 8 weeks. We visited patients
after the first, fourth, and eighth weeks and evaluated their symptoms and quality of life. The number of subjects free from
abdominal pain or discomfort changed from 0 at week 0 to 14 at week 8 in the Colpermin group and from 0 to 6 in controls (P < 0.001). The severity of abdominal pain was also reduced significantly in the Colpermin group as compared to controls. Furthermore,
Colpermin significantly improved the quality of life. There was no significant adverse reaction. Colpermin is effective and
safe as a therapeutic agent in patients with IBS suffering from abdominal pain or discomfort. 相似文献
98.
Gliclazide (GLZ)/Chitosan microparticles were prepared with tripolyphosphate (TPP) by ionic cross-linking. The particle sizes of TPP-chitosan microparticles were in the range 675-887 μm and the loading efficiencies of drug was more than 94.0%. Chitosan concentration, TPP solution pH and glutaraldehyde volume added to the TPP cross-linking solution had an effect on the drug release characteristics. The microparticles were examined with scanning electron microscopy and infrared spectroscopy. Furthermore, pectin can interact with cationic chitosan on the surface of these TPP/chitosan microparticles to form a polyelectrolyte complex film for the improvement of the drug sustained-release performances. In vivo testing of the GLZ-chitosan microparticles in diabetic albino rabbits demonstrated significant antidiabetic effect of GLZ/chitosan microparticles after 8 h which lasts for 18 h, compared with GLZ powder which produced maximum hypoglycaemic effect after 4 h, suggesting that GLZ/chitosan microparticles are a valuable system for the long-term delivery of GLZ. 相似文献
99.
Modern cancer therapies, mainly ionizing radiation and certain classes of chemotherapies target DNA. Although these treatments disrupt the genome, their rationale is clear. They prevent cancer cells from dividing and proliferating. Nevertheless, cancer cells can survive by over-activating a wide range of DNA repair pathways to eliminate the induced damage. In this context, DNA repair mechanisms are considered to be a vital target to improve cancer therapy and reduce the resistance to many DNA damaging agents currently in use as standard-of-care treatments. Here, we focus on two important DNA repair pathways, namely base excision repair (BER) and nucleotide excision repair (NER). Specifically, our focus is on two protein targets that are linked to the hallmark "relapse" and "drug resistance" phenomena. These are Excision Repair Cross-Complementation Group 1 (ERCC1), and DNA polymerase beta (pol β). The former is a key player in NER, while the latter is the error-prone polymerase of BER. Our objective is to list all known inhibitors for the two targets and provide an overview of the great efforts that were made in their discovery. While in the DNA pol β case more than sixty inhibitors were identified, very few inhibitors have been discovered on the ERCC1 side. It is hoped that this review will assist in the discovery of novel, potent and specific drug candidates aimed at improving existing cancer therapies including ionizing radiation, bleomycin, monofunctional alkylating agents and cisplatin. 相似文献
100.
We have developed a multi-layer approach for the synthesis of water-dispersible superparamagnetic iron oxide nanoparticles for hyperthermia, magnetic resonance imaging (MRI) and drug delivery applications. In this approach, iron oxide core nanoparticles were obtained by precipitation of iron salts in the presence of ammonia and provided β-cyclodextrin and pluronic polymer (F127) coatings. This formulation (F127250) was highly water dispersible which allowed encapsulation of the anti-cancer drug(s) in β-cyclodextrin and pluronic polymer for sustained drug release. The F127250 formulation has exhibited superior hyperthermia effects over time under alternating magnetic field compared to pure magnetic nanoparticles (MNP) and β-cyclodextrin coated nanoparticles (CD200). Additionally, the improved MRI characteristics were also observed for the F127250 formulation in agar gel and in cisplatin resistant ovarian cancer cells (A12780CP) compared to MNP and CD200 formulations. Furthermore, the drug-loaded formulation of F127250 exhibited many folds of imaging contrast properties. Due to the internalization capacity of the F127250 formulation, its curcumin-loaded formulation (F127250-CUR) exhibited almost equivalent inhibition effects on A2780CP (ovarian), MDA-MB-231 (breast), and PC-3 (prostate) cancer cells even though curcumin release was only 40%. The improved therapeutic effects were verified by examining molecular effects using Western blotting and transmission electron microscopic (TEM) studies. F127250-CUR also exhibited haemocompatibility, suggesting a nanochemo-therapeutic agent for cancer therapy. 相似文献