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De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy

World Journal of Transplantation 2017年第4期7卷 243-249页

作者： Ivo Filipe Gama Leonor Duarte Almeida Ophthalmology Department Santa Maria University Hospital (North Lisbon Hospital Center)

The familiar amyloid polyneuropathy(FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure(IOP) is a result of deposition of transthyretin(TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP(Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011. In 2011 he had an episode of pain in right eye(RE). Scalloped pupils, pupillary amyloid deposits and subtle vitreous opacities were detected. The IOP was 40 mmHg in RE and 28 mmHg in left eye(LE) with open angle. Optical coherence tomography detected a temporal superior retinal nerve fiber layer defect in LE and perimetry was normal. Topical timolol was initiated, and brimonidine was subsequently added to improve IOP control, which was achieved with topical medication until last evaluation. No progression occurred since 2011. Actually, with longer life expectancies, there is an increased risk of ocular involvement in FAP, even after liver transplantation. Although rare, a more exuberant amyloid deposition in anterior segment vs posterior segment can occur, and supports an important role of amyloid production in ciliary pigment epithelium in these patients. Medical control of IOP and a stable course are unusual in this secondary glaucoma. Ophthalmologists have an important task in the follow-up of patients and early diagnosis of risk factors for secondary glaucoma, such as scalloped pupils with amyloid deposits.

关键词： familial amyloid polyneuropathy Glaucoma Scalloped pupils Pupillary amyloid deposits Liver transplantation

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Dunnigan-Type familial Partial Lipodystrophy: Understanding and Treating the Syndrome

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Open Journal of Endocrine and Metabolic Diseases 2017年第1期7卷 22-34页

作者： Ana Raisa Jatahy Santos Sabrina Pinto Ferreira Moacir Benazzi Mara Capra Helen Paula Apparicio Medeiros Ana Luísa de Jesus Mirella Hansen de Almeida Larissa Bianca Paiva Cunha de Sá Alberto Krayyem Arbex Division of Endocrinology IPEMED Medical School Rio de Janeiro Brazil Porto Velho Garrison Hospital—HGuPV Porto Velho Brazil Division of Endocrinology Central Air Force Hospital Rio de Janeiro Brazil Diabetology Department Malteser Krankenhaus St. Franziskus-Hospital Flensburg Germany

Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. Methods: Case report and literature review. Results: A 15-year-old adolescent presented at the clinic complaining of darkening of skin folds on her trunk and back. During physical examination, the presence of serious acanthosis nigricans in her cervical region, axillae, and intergluteal space was noted. Hirsutism in androgen-dependent areas was also observed, as well as relevant reduction of subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk and fat accumulation in the face and chin. Discussion. Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. It is characterized by the progressive disappearance of the subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk, with onset in puberty, followed by fat accumulation in other areas such as the face, chin, labia majora, and intra-abdominal region, leading to hypertrophy that may mimic the Cushing’s syndrome phenotype. Affected patients display marked insulin resistance and may consequently develop diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary syndrome. Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. Early clinical diagnosis allows for measures that minimize the severe metabolic disorders associated with this disease and, consequently, these adolescents’ self-esteem issues.

关键词： Dunnigan-Type familial Partial Lipodystrophy Insulin Resistance Heterozygous Mutation

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Expanding etiology of progressive familial intrahepatic cholestasis

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World Journal of Hepatology 2019年第5期11卷 450-463页

作者： Sarah AF Henkel Judy H Squires Mary Ayers Armando Ganoza Patrick Mckiernan James E Squires Division of Gastroenterology Hepatologyand NutritionEmory School of MedicineAtlantaGA 30322United States Department of Radiology UPMC Children’s Hospital of PittsburghPittsburghPA 15224United States Division of Gastroenterology Hepatologyand NutritionUPMC Children’s Hospital of PittsburghPittsburghPA 15224United States Division of Pediatric Transplantation Department of SurgeryUPMC Children’s Hospital of PittsburghPittsburghPA 15224United States

BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes,resulting in a hepatocellular form of *** the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause,recent scientific advancements have uncovered multiple specific responsible *** variety of identified defects has resulted in an ever-broadening phenotypic spectrum,ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver *** To review current data on defects in bile acid homeostasis,explore the expanding knowledge base of genetic based diseases in this field,and report disease characteristics and *** We conducted a systemic review according to PRISMA *** performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding,diagnosis,and management of bile acid homeostasis with a focus on the family of diseases collectively known as *** only articles were accessed in *** manual search included references of retrieved *** extracted data on disease characteristics,associations with other diseases,and *** was summarized and presented in text,figure,and table *** Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults.A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common *** We present a summary of current advances made in a number of areas relevant to both the classically described FIC1(ATP8B1),BSEP(ABCB11),and MDR3(ABCB4)transporter deficiencie

关键词： Cholestasis Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis Intrahepatic cholestasis of pregnancy Drug induced cholestasis Bile acids Bile transport

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Imaging the Atherosclerosis with 64-Detector Row Computed Tomography in Homozygous familial Hypercholesterolemia

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Advances in Computed Tomography 2013年第3期2卷 96-101页

作者： Cihan Akgul Ozmen Deniz Gokalp Hasan Nazaroglu Ayfer Gozu Pirinccioglu Department of Endocrinology Dicle University School of Medicine Diyarbakir Turkey Department of Pediatrics Dicle University School of Medicine Diyarbakir Turkey Department of Radiology Dicle University School of Medicine Diyarbakir Turkey

Objective: The higher risk and fatality of cardiovascular disease in subjects with homozygous familial hypercholesterolemia warrants early screening. Computed tomography angiography is the most promising method at present as a reliable and reproducible noninvasive diagnostic test of cardiovascular disease. We aimed to describe the 64-slice multidetector computed tomography coronary angiography findings of new cases with homozygous familial hypercholesterolemia. Methods: Four patients with homozygous familial hypercholesterolemia (2 female and 2 male) with mean age of 23 ± 9 years were included. Mean plasma total and LDL cholesterol were 654 ± 75 mg/dl and 609 ± 76 mg/dl. Tomography examinations were performed using a 64-row MDCT-CA system (Brilliance Computed Tomography scanner, Philips Healthcare). Results: All patients presented calcified and mixed atherosclerotic plaques in the ascending aorta near the origin of the coronary arteries. More extensive atherosclerosis was found in Case 1 and Case 2 than in other cases. Case 3 has mild atherosclerosis and Case 4 had normal coronaries but plaques in aorta. In addition, we detected myocardial bridging in left anterior descending artery of 2 cases, calcified plaques in postero-lateral branch artery, and calcification in non-coronary sinus in others. Conclusion: Multidetector computed tomography coronary angiography is a useful, non-invasive tool for detecting early aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia subjects and may be the choice of imaging for most of such subjects.

关键词： familial Hyperlipidemia Cardiovascular Disease Computed Tomography Angiography

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Functional analysis of human Na^+/K^+-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes

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World Journal of Biological Chemistry 2014年第2期5卷 240-253页

作者： Susan Spiller Thomas Friedrich Institute of Chemistry Technical University of Berlin D-10623 Berlin Germany

AIM: Functional characterization of ATP1A2 mutations that are related to familial or sporadic hemiplegic migraine(FHM2, SHM). METHODS: cRNA of human Na+/K+-ATPase α2- and β1-subunits were injected in Xenopus laevis oocytes. FHM2 or SHM mutations of residues located in putative α/β interaction sites or in the α2-subunit's C-terminal region were investigated. Mutants were analyzed by the twoelectrode voltage-clamp(TEVC) technique on Xenopus oocytes. Stationary K+-induced Na+/K+ pump currents were measured, and the voltage dependence of apparent K+ affinity was investigated. Transient currents were recorded as ouabain-sensitive currents in Na+ buffers to analyze kinetics and voltage-dependent presteady state charge translocations. The expression of constructs was verified by preparation of plasma membrane and total membrane fractions of cRNA-injected oocytes. RESULTS: Compared to the wild-type enzyme, the mutants G900R and E902K showed no significant dif-ferences in the voltage dependence of K+-induced currents, and analysis of the transient currents indicated that the extracellular Na+ affinity was not affected. Mutant G855R showed no pump activity detectable by TEVC. Also for L994del and Y1009X, pump currents could not be recorded. Analysis of the plasma and total membrane fractions showed that the expressed proteins were not or only minimally targeted to the plasma membrane. Whereas the mutation K1003E had no impact on K+ interaction, D999H affected the voltage dependence of K+-induced currents. Furthermore, kinetics of the transient currents was altered compared to the wild-type enzyme, and the apparent affinity for extracellular Na+ was reduced. CONCLUSION: The investigated FHM2/SHM mutations influence protein function differently depending on the structural impact of the mutated residue.

关键词： Na+/K+-ATPase Electrophysiology Voltage dependence familial hemiplegic migraine C-terminus β-subunit

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Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

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World Journal of Gastroenterology 2014年第44期20卷 16620-16629页

作者： Fábio Guilherme Campos Department of Gastroenterology Colorectal Surgery Division Hospital das Clínicas University of So Paulo Medical School

familial adenomatous polyposis(FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps(predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

关键词： familial adenomatous polyposis Surgical treatment

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Effect of LDL-apheresis on plasma lipids, chitotriosidase and anti-oxLDL antibodies in heterozygous familial hypercholes-terolemia

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Journal of Biomedical Science and Engineering 2009年第7期2卷 499-505页

作者： Maria Musumeci Francesco Pappalardo GianCarlo Tonolo Fernando Torrisi Francesca Gullo Salvatore Musumeci 不详

Forty four consecutive subjects aged 29-58 years (21 males and 23 females) with a clinical diagnosis of heterozygous familial hypercholesterolemia periodically treated every 30 days with LDL-apheresis for statin resistance, were enrolled in this study. A lipid profile was obtained immediately before starting LDL-apheresis, a second profile was obtained within four hours after LDL-apheresis. Chit activity and anti-oxLDL levels were determined with appropriate methods in all patients before and after LDL- apheresis. Total cholesterol, LDL-cholesterol, HDL- cholesterol and triglycerides decreased significantly after LDL-apheresis, while the variations of Chit activity and anti-oxLDL were not significant after LDL-apheresis. The correlation between Chit and total cholesterol was negative (r= –0.44 and –0.50 res- pectively) before and after LDL-apheresis as between Chit and LDL-cholesterol (r= –0.45 and –0.55 respectively). Anti-oxLDL concentration before and after LDL-apheresis positively correlated with Chit activity (r= 0.52 and r = 0.63 respectively), negatively with total cholesterol (r= –0.33 and r = –0.35 res- pectively) and with LDL (r = –0.32 and r = –0.21 respectively). We think that removing LDL with LDL-apheresis the anti-oxLDL/oxLDL ratio could increase and the excess of anti-oxLDL could induce macrophage activation through the surface Fc receptors. Alternatively with high levels of LDL- cholesterol, the deposition of foam cells represent the characteristic evolution of atherosclerosis process. Macrophage activation in the heterozygous familial hypercholesterolemia could represent an attempt for re-modeling the vessel wall, reducing the growth of lipid plaques.

关键词： LDL-Apheresis Heterozygous familial Hyper- Cholesterolemia Lipids Chitotriosidase Anti-oxLDL Anti- bodies Sardinia

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Epithelial turnover in duodenal familial adenomatous polyposis: A possible role for estrogen receptors?

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World Journal of Gastroenterology 2016年第11期22卷 3202-3211页

作者： Alfredo Di Leo Gabriella Nesi Mariabeatrice Principi Domenico Piscitelli Bruna Girardi Maria Pricci Giuseppe Losurdo Andrea Iannone Enzo Ierardi Francesco Tonelli Gastroenterology Section Department of Emergency and Organ TransplantationUniversity of Bari Pathology Section Department of Surgery and Translational MedicineUniversity of Florence Pathology Section Department of Emergency and Organ TransplantationUniversity of Bari General Surgery Section Department of Surgery and Translational MedicineUniversity of Florence

AIM: To investigate estrogen receptors expression in duodenal familial adenomatous polyposis(FAP) and any relationship with epithelial proliferation/apoptosis ***: Twenty-two patients affected by FAP undergoing duodenal resection for malignancies were recruited. Controls were 15 healthy subjects undergoing endoscopy for dyspeptic symptoms. ER-α, ER-α, Ki-67, TUNEL and caspase 3 expression(labeling index: percentage of positive cells) were evaluated by immunohistochemistry or immunofluorescence and examined by light or confocal microscopy. Samples were assigned to four groups: normal tissue, low(LGD)and high-grade dysplasia(HGD), adenocarcinoma(AC). One-way analysis of variance, corrected by Bonferroni's test, and Pearson's correlation test were applied for statistical ***: ER-beta showed a progressive decline: normal tissue(23.5 ± 4.9), LGD(21.1 ± 4.8), HGD(9.3 ± 3.5), AC(7.1 ± 3.1). The normal tissue of FAP subjects expressed ER-beta like the controls(23.9 ± 6.2). Conversely, ER-α showed a progressive increase from normal tissue(24.8 ± 5.6) to AC(52.0 ± 8.2); the expression in normal tissue was similar to controls(22.5 ± 5.3). Ki67 demonstrated a statistically significant progressive increase at each disease stage up to AC. TUNEL did not reveal differences between controls and normal tissue of FAP subjects, but progressive decreases were observed in LGD, through HGD to AC. Pearson's correlation test showed a direct relationship between ER-b and TUNEL LI(r = 0.8088, P < 0.0001). Conversely, ER-α was inversely correlated with TUNEL LI(r =- 0.7257, P < 0.0001). The co-expression of ER-b and caspase 3 declined progressively from normal to neoplastic ***: This study confirmed that ER-b is strongly decreased in duodenal FAP carcinomas, declining in a multiple step fashion, thereby suggesting a putative anti-carcinogenic effect. ER-α showed the opposite trend. ER-b/caspase 3 co-expression suggests this hormone's possible involvement

关键词： familial adenomatous polyposis Duodenal cancer Estrogen receptors Immunohistochemistry Confocal micr

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Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis

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World Journal of Gastroenterology 2013年第40期19卷 6774-6783页

作者： Masahiro Tajika Yasumasa Niwa Vikram Bhatia Tsutomu Tanaka Makoto Ishihara Kenji Yamao Department of Endoscopy Aichi Cancer Center HospitalNagoya 464-8681Japan Department of Medical Hepatology Institute of Liver and Biliary SciencesNew Delhi 110070India Department of Gastroenterology Aichi Cancer Center HospitalNagoya 464-8681Japan

Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis(FAP). However,adenomas may develop in the ileal pouch mucosa over time,and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence,nature,and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed,the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated,but many remain controversial. Nevertheless,it seems certain that the age of the pouch is important. The risk appears to be 7%to 16% after 5 years,35% to 42% after 10 years,and75% after 15 years. On the other hand,only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years(median,10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low,it is not negligible,and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance,especially using chromoendoscopy,is recommended.

关键词： familial adenomatous polyposis Restorative proctocolectomy Ileal pouch Ileal pouch-anal anastomosis Ileo-rectal anastomosis Adenoma Adenocarcinoma Pouch polyp Pouch neoplasm

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Treatment of Crohn's disease and familial Mediterranean fever by leukopheresis:Single shot for two targets

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World Journal of Gastroenterology 2015年第13期21卷 4078-4081页

作者： Mahmut Yuksel Fatih Saygili Orhan Coskun Nuretdin Suna Mustafa Kaplan Ufuk Baris Kuzu Zeki Mesut Yalin Kilic Yasemin Ozderin Ozin Ertugrul Kayacetin Department of Gastroenterology Turkiye Yuksek Ihtisas Training and Education HospitalAnkara 06230Turkey

Coexistence of Crohn's disease(CD) and familial Mediterranean fever(FMF) is a rare condition and knowledge about this clinical situation is limited with a few case reports in the literature. The treatment of both diseases depends on their individual therapies. However, it is very hard to deal with this coexistence when CD is refractory to standard therapies. Ongoing activity of CD triggers the clinical attacks of FMF and the symptoms like abdominal pain interfere with both disease presentations which can cause problems about diagnostic and therapeutic approach. The main therapeutic agent for FMF is colchicine and diarrhea is the most common side effect of this drug. This side effect also causes problems about management of these diseases when both of them are clinically active. Here we report probably the first case in the literature with coexisting CD and FMF who was successfully treated by leukopheresis since he was refractory to conventional therapies for CD.

关键词： Crohn’s disease familial Mediterranean fever Leuko

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