检索结果-南通市图书馆

World Journal of Gastroenterology 2023年第25期29卷 3932-3963页

作者： Ersin Gümüs hasan ozen Department of Pediatric Gastroenterology Hepatology and NutritionHacettepe University Faculty of MedicineIhsan Dogramaci Children’s HospitalAnkara 06230Turkey

Glycogen storage diseases(GSDs),also referred to as glycogenoses,are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization.The overall estimated GSD incidence is 1 case per 20000-43000 live births.There are over 20 types of GSD including the subtypes.This heterogeneous group of rare diseases represents inborn errors of carbohydrate metabolism and are classified based on the deficient enzyme and affected tissues.GSDs primarily affect liver or muscle or both as glycogen is particularly abundant in these tissues.However,besides liver and skeletal muscle,depending on the affected enzyme and its expression in various tissues,multiorgan involvement including heart,kidney and/or brain may be seen.Although GSDs share similar clinical features to some extent,there is a wide spectrum of clinical phenotypes.Currently,the goal of treatment is to maintain glucose homeostasis by dietary management and the use of uncooked cornstarch.In addition to nutritional interventions,pharmacological treatment,physical and supportive therapies,enzyme replacement therapy(ERT)and organ transplantation are other treatment approaches for both disease manifestations and longterm complications.The lack of a specific therapy for GSDs has prompted efforts to develop new treatment strategies like gene therapy.Since early diagnosis and aggressive treatment are related to better prognosis,physicians should be aware of these conditions and include GSDs in the differential diagnosis of patients with relevant manifestations including fasting hypoglycemia,hepatomegaly,hypertransaminasemia,hyperlipidemia,exercise intolerance,muscle cramps/pain,rhabdomyolysis,and muscle weakness.Here,we aim to provide a comprehensive review of GSDs.This review provides general characteristics of all types of GSDs with a focus on those with liver involvement.

关键词： Glycogen storage disease Liver Muscle Hypoglycemia

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Comparison of multichannel intraluminal impedance-pH monitoring and reflux scintigraphy in pediatric patients with suspected gastroesophageal reflux

引用

World Journal of Gastroenterology 2016年第43期22卷 9595-9603页

作者： Nuray Uslu Kizilkan Murat Fani Bozkurt Inci Nur Saltik Temizel Hülya Demir Aysel Yüce Biray Caner hasan ozen Division of Pediatric Gastroenterology Koc University Hospital Topkapi Istanbul 34010 Turkey Hacettepe University Faculty of Medicine Department of Nuclear Medicine Ankara 06100 Turkey Division of Gastroenterology Hepatology and Nutrition Unit Department of Pediatrics Hacettepe University Faculty of MedicineAnkara 06100 Turkey

AIM To evaluate the agreement of multichannel intraluminal impedance-p H monitoring(MII-p HM) and gastroesophageal reflux scintigraphy(GES) for the diagnosis of gastroesophageal reflux disease. METHODS Seventy-five consecutive patients with suspectedgastroesophageal reflux disease(GERD) underwent 24-h combined MII-p HM recording and one hour radionuclide scintigraphy during the course of the MIIpH M study. Catheters with 6 impedance channels and 1 p H sensor were placed transnasally. Impedance and p H data analysis were performed automatically and manually. For impedance monitoring, reflux was defined as a retrograde 50% drop in impedance, starting distally and propagating retrogradely to at least the next two more proximal measuring channels. Reflux index(RI, percentage of the entire record that esophageal p H is < 4.0) greater than 4.2% for p HM and number of refluxes more than 50 for 24 h for MII were accepted as positive test results. At scintigraphy, 240 frames of 15 seconds duration were acquired in the supine position. Gastroesophageal reflux was defined as at least one reflux episode in the esophagus. After scintigraphic evaluation, impedance-pH recordings and scintigraphic images were evaluated together and agreement between tests were evaluated with Cohen's kappa.RESULTS Sufficient data was obtained from 60(80%) patients(34 male, 56.7%) with a mean age of 8.7 ± 3.7 years(range: 2.5-17.3 years; median: 8.5 years). Chronic cough, nausea, regurgitation and vomiting were the most frequent symptoms. The mean time for recording of MII-pH M was 22.8 ± 2.4 h(range: 16-30 h; median: 22.7 h). At least one test was positive in 57(95%) patients. According to diagnostic criteria, GERD was diagnosed in 34(57.7%), 44(73.3%), 47(78.3%) and 51(85%) patients by means of p HM, MII, GES and MII-p HM, respectively. The observed percentage agreements/κ values for GES and p HM, GES and MII, GES and MII-p HM, and MII and p HM are 48.3%/-0.118; 61.7%/-0.042; 73.3%/0.116 and 60%/0.147, respectively. There was no or slight agreem

关键词： Gastroesophageal 倒流疾病孩子多信道的 intraluminal 阻抗监视的食道的 pH Scintigraphy

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Successful management of depression skull fracture in a boy with dog bite injury:A case report

引用

Journal of Acute Disease 2022年第5期11卷 202-205页

作者： Abdulkerim Gokoglu hasan Tahsin Gozdas Selime ozen Sonay Gokoglu Department of Neurosurgery Private System HospitalKayseriTurkey Department of Infectious Diseases and Clinical Microbiology Abant Izzet Baysal University Faculty of MedicineBoluTurkey Department of Pediatrics Dr.Behcet Uz Children’s Disease and Pediatric Surgery Training and Research HospitalİzmirTurkey Department of Pediatrics Private Huma HospitalKayseriTurkey

Rationale:There are many cases of daily reported dog bite injuries around the world.However,craniofacial fractures owing to dog bites are quite rare.They are frequently seen in the pediatric age group.Here,we report the successful management of a pediatric patient with depression skull fracture due to a dog bite injury.Patient’s concerns:A 3-year-old boy was admitted to the emergency department with a complicated skull fracture due to a dog bite injury.In physical examination,the patient was neurologically intact.He had hemorrhagic scalp wounds.Cerebrospinal fluid was leaking on the right temporal and frontal sides.Diagnosis:Cranial computed tomography revealed pneumocephalus,brain edema,and compound fracture associated with right frontal concussion.Intervention:After decompressive craniectomy,duraplasty was performed by placing a galea graft.Depressed fractures were removed and subdural bleeding control was provided.Outcomes:Perioperative and postoperative periods were uneventful.Lessons:Emergency medicine physicians should control possible underlying fracture lines in pediatric head trauma caused by dog bites.

关键词： Craniocerebral trauma Dog bite Skull fracture Pediatric patient Cranial computed tomography Cerebrospinal fluid leakage

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：