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Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy:A case report 被引量:1
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作者 Ying Yang Ya-Chang Zeng +2 位作者 Pingkan Rumende Chen-Guang Wang Yue Chen 《World Journal of Clinical Cases》 SCIE 2021年第21期6091-6101,共11页
BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth ... BACKGROUND Congenital factor VII deficiency(FVIID)is a rare autosomal recessive genetic disorder.The clinical manifestations of this deficiency vary greatly.Predicting the risk of bleeding during and after childbirth of pregnant women with congenital FVIID is difficult.Recombinant factor VIIa is the most common replacement therapy for FVIID.However,no unified diagnosis and treatment plan for pregnant women with congenital FVIID has been established.CASE SUMMARY We report the clinical history of a pregnant woman who was considered to have congenital FVIID.Recombinant factor VIIa was prophylactically administered to the pregnant woman at the time of cervical fully opening.She successfully delivered a live infant without any complications,such as postpartum hemorrhage,neonatal abnormalities,and so on.CONCLUSION Prophylaxis of recombinant factor VIIa during delivery can effectively reduce the incidence of postpartum hemorrhage among pregnant women with congenital FVIID associated with a high risk of bleeding. 展开更多
关键词 Alternative treatment Congenital factor VII deficiency diagnosis and treatment plan PREGNANCY Perinatal management Case report
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Glucose-6-Phosphate Dehydrogenase Deficiency: Difficulties in Diagnosis at the Souro Sanou University Hospital, Burkina Faso
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作者 Salifo Sawadogo Koumpingnin Nébié +4 位作者 Jerôme Kouldiati Catherine Traoré Salam Sawadogo Aimée S. Kissou Eléonore Kafando 《Open Journal of Blood Diseases》 CAS 2023年第1期24-32,共9页
Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy worldwide. The precise prevalence of G6PD is unknown in Burkina Faso. The objective of the study was to describe the difficulties to diagnose... Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy worldwide. The precise prevalence of G6PD is unknown in Burkina Faso. The objective of the study was to describe the difficulties to diagnose this disease at the Souro Sanou University hospital (CHUSS) in Bobo-Dioulasso. It involved five patients comprising one child with homozygous SS sickle cell disease, one adolescent screened following a family investigation, and three adults including a man and two women. Blood smear stained with May Grunwald Giemsa was performed to look for specific signs of G6PD-deficient red blood cell and brilliant cresyl Blue for Heinz Bodies. A microscope Olympus BX53 equipped with a Camera (XC10) and connected to a computer was used to read blood smears and capture images. Genes sequencing by Sanger method were performed in a specialized laboratory in molecular genetics. For each analysis, the protocol and instructions of the equipment and reagent manufacturer were applied. Of the five patients, three had anemia and only one had hyperreticulocytosis. Two patients had biological signs of hemolysis and one patient had an elevated CRP. Blood smear stained with MGG and cresyl blue showed specific signs of G6PD-deficient red blood cells and Heinz bodies in all patients. Biochemical analysis and molecular typing confirmed G6PD deficiency. The presence of G6PD-deficient red blood cells in the blood smear guides the diagnosis of G6PD deficiency. The diagnosis is biochemical and is based on the combined measurement of G6PD plus pyruvate kinase and/or hexokinase. 展开更多
关键词 G6PD deficiency G6PD-deficient Red Cell diagnosis Difficulties Burkina Faso
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Diagnosis and clinical manifestations of subacute combined degeneration of the spinal cord: Analysis of 21 cases 被引量:3
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作者 Yanhong Shou Caifeng Li +6 位作者 Dongsheng Fan Yang Shen Jun Zhang Weizhong Xiao Shuqing Zhao Jinsheng Liu Wei Sui 《Neural Regeneration Research》 SCIE CAS CSCD 2007年第2期112-116,共5页
BACKGROUND: Subacute combined degeneration of the spinal cord is caused by vitamin B12 deficiency and is a kind of degenerative disease owing the characteristics of nervous system diseases. In addition, different pat... BACKGROUND: Subacute combined degeneration of the spinal cord is caused by vitamin B12 deficiency and is a kind of degenerative disease owing the characteristics of nervous system diseases. In addition, different patients have variously clinical manifestations and various prognoses after vitamin B12 therapy. OBJECTIVE: To investigate and analyze diagnosis, clinical manifestations and prognosis of subacute combined degeneration of the spinal cord. DESIGN: Case analysis. SETTING: Department of Neurology, the Third Hospital of Peking University. PARTICIPANTS: A total of 21 subacute combined degeneration of the spinal cord patients including 14 males and 7 females aged from 33 to 82 years were selected from Department of Neurology, the Third Hospital of Peking University from January 1999 to December 2005. Duration from onset to final diagnosis lasted for 1.5 - 108 months. All patients had typically clinical manifestations; meanwhile, level of serum vitamin B12 was decreased and/or vitamin B12 therapy was effective. All patients provided the confirmed consent. METHODS: Clinical data of 21 subacute combined degeneration of the spinal cord patients were retrospectively analyzed, while general data and clinical characteristics were recorded at the same time. Levels of blood routine, serum vitamin B12 and homocysteine were measured at the phase of hospitalization. Normal value of serum vitamin B12 was 187 - 1 059 ng/L and normal value of serum homocysteine was 5 - 15μ mol/L. All patients received neuroelectrophysiological examination and 15 patients received MRI examinations of spinal cord. After final diagnosis, patients were given vitamin B12 therapy. And follow-up was performed to investigate the prognosis. MAIN OUTCOME MEASURES: (1) Levels of blood routine, serum vitamin B12 and homocysteine; (2) results of neuroelectrophysiological examination; (3) results of MRI examination of spinal cord; (4) prognosis. RESULTS: Clinical data of 21 patients and follow-up data of 20 patients were involved in the final analysis and 1 patient was lost because of living in the other province. (1) Clinical manifestations: All 21 patients had typically clinical manifestations. The original symptoms included numbness of lower and/or upper limbs (5 cases), unstable gait (3 cases), limb asthenia (4 cases), limb numbness combined with light asthenia (5 cases), limb numbness combined with unskillful activity (3 cases), and limb numbness combined with unstable gait (1 case). (2) Experimental results: Eight subacute combined degeneration of the spinal cord patients accompanied with mild-severe anemia and mean corpuscular volume of 13 patients were increased. Among 13 subacute combined degeneration of the spinal cord patients not administrating vitamin B12 before hospitalization, the levels of serum vitamin B12 of 2 patients were not measured but those of other patients were decreased. After vitamin B12 therapy,the levels of serum vitamin B12 of 8 patients were normal or increased. In addition, the levels of serum homocysteine of 6 patients were not measured but those of 7 patients were increased. While, the levels of homocysteine of 5 following-up patients were normal. The levels of serum vitamin B12 of 8 patients who received with vitamin B12 therapy before hospitalization were normal or increased. Among them,the levels of bomocysteine were not measured in 4 patients, those of 3 patients were increased, and that of 1 patient was normal. (3) Results of neuroelectrophysiological examination: Among all patients, 95% (20/21) patients had abnormal sensory-evoked potential, 89% (8/9) patients had abnormal motor evoked potential, 67% (10/15) patients had abnormal nerve conduction, 13% (2/15) patients had neurogenic muscle injury showed by electromyography (EMG), 70% (7/10) patients had abnormal brain-stem auditory evoked potential, and 40% (4/10) patients had abnormal visual evoked potential. (4) Results of MRI examination of spinal cord: MRI examination demonstrated that 40% (6/15) patients had spinal cord lesion, but spinal cord lesion disappeared in 2 patients during follow up. In addition, clinical manifestations of patients were improved after standard vitamin B I2 therapy. CONCLUSION: Nervous system lesion caused by vitamin B 12 deficiency is not only involved in spinal cord, also in peripheral nerve, optic nerve, auditory pathway, etc. Diagnosis of the lesion depends on clinical characteristics and level of serum vitamin BI2. Especially, neuroelectrophysiological examination, measurement of homocysteine and MRI examination of spinal cord are beneficial for diagnosis and evaluation of therapeutic effects. 展开更多
关键词 vitamin B12 deficiency spinal cord diseases diagnosis PROGNOSIS
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DIAGNOSTIC VALUE OF SERUM INSULIN- LIKE GROWTH FACTOR BINDING PROTEIN- 3 IN CHILDREN WITH OR WITHOUT GROWTH HORMONE DEFICIENCY 被引量:4
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作者 覃舒文 史轶蘩 邓洁英 《Chinese Medical Sciences Journal》 CAS CSCD 2002年第3期160-163,共4页
OBJECTIVE: To study the value of serum insulin-like growth factor binding protein-3 (IGFBP-3) levels in differential diagnosis of growth hormone deficiency (GHD). METHODS: To measure serum IGFBP-3 levels by RIA in nor... OBJECTIVE: To study the value of serum insulin-like growth factor binding protein-3 (IGFBP-3) levels in differential diagnosis of growth hormone deficiency (GHD). METHODS: To measure serum IGFBP-3 levels by RIA in normal children and adolescents, GHD children and short-stature children without GHD. RESULTS: Serum level of IGFBP-3 in 129 children with untreated GHD and with no pubertal development was 1.6 +/- 0.9 mg/L, which was less than that in normal group of the same age, but overlapped with the normal children in Tanner stage I. After six-month treatment with recombinant human growth hormone (rhGH), serum level of IGFBP-3 in 59 GHD significantly increased from 1.3 +/- 0.7 mg/L to 2.7 +/- 0.9 mg/L, accompanied by an increase of body heights, growth velocities and serum level of IGF-1. Serum level of IGFBP-3 in 55 short-stature children without GHD was 3.3 +/- 2.2 mg/L, which was not significantly different from that in normal group. CONCLUSION: Serum IGFBP-3 level can reflect the status of GH secretion in children with GHD and is a useful marker for differential diagnosis of GHD. 展开更多
关键词 insulin like growth factor binding protein 3 growth hormone deficiency short statureObjective. To study the value of serum insulin like growth factor binding protein 3 (IGFBP 3) levels in differential diagnosis of growth hormone deficie
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Treatment of vitamin K-dependent coagulation factor deficiency and subarachnoid hemorrhage 被引量:3
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作者 Hai-fei Chen Tian-qin Wu +8 位作者 Ling-juan Jin Jie-qing Tang Jing-jing Zhu Ying-chao Ge Zheng-yang Li Hong-shi Shen Long-mei Qin Zi-qiang Yu Zhao-yue Wang 《World Journal of Emergency Medicine》 CAS 2011年第1期73-76,共4页
BACKGROUND: In adults, vitamin K-dependent coagulation factor deficiency (VKCFD) increases in the recent years. We treated a VKCFD patient with subarachnoid hemorrhage, with favorable outcomes.METHODS: A 19-year-o... BACKGROUND: In adults, vitamin K-dependent coagulation factor deficiency (VKCFD) increases in the recent years. We treated a VKCFD patient with subarachnoid hemorrhage, with favorable outcomes.METHODS: A 19-year-old male student with VKCFD was treated at our hospital. The initial treatment was injection of a large dose of vitamin K and fresh plasma, and then with oral high dose of vitamin K4.RESULTS: At 4 weeks after admission, the focus of hemorrhage subsided, neurological examination was normal, and the patient was discharged.CONCLUSIONS: VKCFD is rare and its diagnosis should be based on the history of the patient and the results of laboratory examinations. A large dose of vitamin K is the fi rst choice of treatment. 展开更多
关键词 Vitamin K-dependent coagulation factor deficiency Subarachnoid hemorrhage diagnosis
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From infections to autoimmunity:Diagnostic challenges in common variable immunodeficiency 被引量:1
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作者 Ewa Więsik-Szewczyk Karina Jahnz-Różyk 《World Journal of Clinical Cases》 SCIE 2020年第18期3942-3955,共14页
Common variable immunodeficiency(CVID)is the most common clinically significant primary antibody deficiency diagnosed in adults.The early symptoms are not specific.They include common infections,mainly of the respirat... Common variable immunodeficiency(CVID)is the most common clinically significant primary antibody deficiency diagnosed in adults.The early symptoms are not specific.They include common infections,mainly of the respiratory tract,caused by typical microorganisms,so cases can be missed in primary care.In the majority of patients increased susceptibility to infections coexists with signs or symptoms of autoimmunity,inflammation or polyclonal lymphoproliferation,which can divert diagnosis from immune deficiency.The overall incidence of malignancy is increased in CVID and certain cancers are significantly more common.Lymphomas and gastric carcinoma are the most frequently reported malignancies in CVID,so a high index of suspicion is recommended.Diagnostic delay in CVID is seen worldwide.The main goal of this paper is to increase the awareness about CVID among health care professionals.We aim to present features which can be helpful in CVID diagnosis in order to shorten the“latency”of proper management of CVID patients.We review clinical symptoms,complications and laboratory abnormalities of CVID.Immunoglobulin replacement therapy is regarded as the cornerstone of pharmacological intervention.New modes of Ig application,mainly subcutaneously and via the hyaluronidase-facilitated subcutaneous route,help to adjust therapy to patients’needs and preferences.Still there remain unmet needs.It remains to be seen whether CVID complications can be avoided by earlier diagnosis,treatment and thorough monitoring in the context of increased risk of malignancy.Development of patient tailored protocols depending on the clinical phenotype and risk factors might be more appropriate.The most important consideration is to diagnose suspected cases and stratify patients in a precise and timely way.Work is needed to define features predictive of unfavorable prognosis. 展开更多
关键词 Primary antibody deficiency Recurrent respiratory tract infections COMPLICATIONS Immunoglobulin replacement ADULTS Early diagnosis
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TCM Treatment for 40 Cases of Rheumatoid Arthritis with Channel Blockage due to Yin Deficiency 被引量:1
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作者 杨维华 欧阳剑虹 +3 位作者 朱克剑 周慎 彭志辉 段树民 《Journal of Traditional Chinese Medicine》 SCIE CAS CSCD 2003年第3期172-174,共3页
To verify the therapeutic effects of the method of softening and lubricating the joints,and calming the endogenous wind in case of rheumatoid arthritis (RA) with the syndrome of channel blockage due to yin deficiency,... To verify the therapeutic effects of the method of softening and lubricating the joints,and calming the endogenous wind in case of rheumatoid arthritis (RA) with the syndrome of channel blockage due to yin deficiency,60 RA patients with the syndrome of channel blockage due to yin deficiency were randomly divided into a treatment group (40 cases) and a control group (20 cases) and treated respectively by the above method for the former and with Zheng Qing Feng Tong Ning Tablets (正清风痛宁片) for the latter. The result turned out to be that the effect in the treatment group was very satisfying.The treatment group obtained a better result in the accumulated points of syndrome and RA,morning rigidity of the joints,grip strength,20m walking time and erythrocyte sedimentation rate (ESR) (P<0.01 or P<0.05).The above indicates that channel blockage due to yin deficiency is an important pathogenesis of RA,and calming the endogenous wind is a method of choice for treating RA. 展开更多
关键词 PHYTOTHERAPY ADULT Aged Arthritis Rheumatoid diagnosis Differential Drugs Chinese Herbal Female Humans Male Medicine Chinese Traditional Middle Aged Yin deficiency
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Physiological Effects of Iron Deficiency on Pyrus pashia Buch-Ham
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作者 AN Hua-ming and FAN Wei-guoAgricultural College , Guizhou University , Guiyang 550025, P. R. China 《Agricultural Sciences in China》 CAS CSCD 2003年第5期521-526,共6页
Pyrus pashia Buch-Ham, a wild specie was used to investigate the physiological effects of iron deficiency in culture solution. The result showed that Chla, Chlb, total chlorophyll content and photosynthesis rate(Pn) d... Pyrus pashia Buch-Ham, a wild specie was used to investigate the physiological effects of iron deficiency in culture solution. The result showed that Chla, Chlb, total chlorophyll content and photosynthesis rate(Pn) decreased sharply, and the decrease of Pn was prior to that of Chl content under the iron deficiency. The iron deficiency symptoms were visible when the iron concentration in culture medium was less than 25 μmol L-1. Peroxidase(POD) and catalase(CAT) activity in iron-deficient leaves declined significantly, and POD was more sensitive than CAT to Fe deficiency. However, the positive correlation between CAT activity and Chl content was more significant than that between POD activity and Chl content. The content of nutrient elements in Fe-deficient leaves, which changed irregularly, were higher than that in normal leaves. There were a most significant positive correlation between active Fe and Chl content, and between active Fe and Pn respectively. Therefore, active Fe could be useful physiological predicting index for diagnosis. 展开更多
关键词 Iron deficiency Pyrus pashia Buch-Ham Physiological effect Nutrient diagnosis
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Twenty-seven Cases of Spleen-Q/Deficiency Syndrome Treated by Heat-Producing Needling at Zusanli 被引量:1
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作者 徐兰凤 王新中 《Journal of Traditional Chinese Medicine》 SCIE CAS CSCD 2000年第1期40-41,共1页
The spleen-qi deficiency syndrome can beinduced by many factors.It is generally characterizedby a decreased food-intake,abdominal distention,watery or loose stool,general lassitude,pale tongueproper,and weak pulse.In ... The spleen-qi deficiency syndrome can beinduced by many factors.It is generally characterizedby a decreased food-intake,abdominal distention,watery or loose stool,general lassitude,pale tongueproper,and weak pulse.In recent years when workingin the Mediterranean TCM Center in Malta,the authorhad treated 27 such cases by applying the heat- 展开更多
关键词 Acupuncture Therapy Yang deficiency Adult Aged Depression diagnosis Differential Female Humans Male Medicine Chinese Traditional Middle Aged QI Stomach Ulcer
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慢性肾脏病3~5期(非透析患者)脾肾亏虚证与湿浊证舌象特征研究
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作者 张迪 郭玲 《实用中医内科杂志》 2025年第1期130-132,共3页
目的研究两种不同证型慢性肾脏病患者的舌象特征数据,探析两类患者舌象特征的差异,通过融合现代计算机视觉技术,提高中医临床辨证客观性。方法采集辽宁中医药大学肾病科门诊2022年9月—2023年9月80例患者舌象,并提出舌象分区模型,通过... 目的研究两种不同证型慢性肾脏病患者的舌象特征数据,探析两类患者舌象特征的差异,通过融合现代计算机视觉技术,提高中医临床辨证客观性。方法采集辽宁中医药大学肾病科门诊2022年9月—2023年9月80例患者舌象,并提出舌象分区模型,通过观察两种证型患者舌色、舌型、苔色、苔质、舌下络脉等,并结合数据分析其HSV色度空间参数,进而获取两种证型患者舌象特征信息。结果脾肾亏虚型患者以淡红舌为主,多伴齿痕、白苔,舌下脉络增粗、迂曲、颜色加深不明显;湿浊型以红舌为主,多伴齿痕、点刺、厚腻苔、舌下络脉增粗、迂曲、颜色加深明显。结论分区模型可以量化不同证型患者的舌象特征,并在一定程度上提高舌诊的准确性和辩证的参照性。 展开更多
关键词 慢性肾脏病 舌象特征 舌诊 脾肾亏虚证 湿浊证
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CYP17A1基因突变致先天性肾上腺皮质增生症一例报道并文献复习
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作者 戴遥 薛丽萍 +3 位作者 章诗琪 许敏 章秋 胡红琳 《中国全科医学》 CAS 北大核心 2025年第6期771-776,共6页
17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上... 17α-羟化酶缺乏症(17-OHD)是先天性肾上腺皮质增生症(CAH)中的一种罕见类型,约占CAH的1%,其患病率为1∶50000。本文报道了1例疑似17-OHD患者,通过外显子测序鉴定了1个类固醇生成酶基因CYP17A1的基因突变,结合临床表现、体格检查、肾上腺和性腺功能检查等,最终将其明确诊断为CAH并给予规范治疗。故结合该病例,本文回顾总结了17-OHD的鉴别和诊断,以期提高临床对该病的认识,促进临床对17-OHD的规范诊治,为17-OHD的诊断和治疗提供更多的参考资料。 展开更多
关键词 肾上腺皮质疾病 先天性肾上腺皮质增生症 17Α-羟化酶缺陷症 基因诊断 CYP17A1基因
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中医治疗慢性心衰研究进展
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作者 庞金华 侯杰军 +2 位作者 张小飞 雷鹏 周岩芬 《陕西中医药大学学报》 2025年第1期153-158,共6页
慢性心力衰竭是在原有心脏病基础上,出现的心脏泵血能力下降,心输出量不足难以满足机体代谢需要,主要以胸闷、气短、肢体水肿为临床症状的慢性疾病。中医认为慢性心力衰竭基本病机为本虚标实,以心气心阳虚为主对本脏产生影响甚至影响其... 慢性心力衰竭是在原有心脏病基础上,出现的心脏泵血能力下降,心输出量不足难以满足机体代谢需要,主要以胸闷、气短、肢体水肿为临床症状的慢性疾病。中医认为慢性心力衰竭基本病机为本虚标实,以心气心阳虚为主对本脏产生影响甚至影响其他脏腑,进而加重心衰症状。中医运用整体观在慢性心衰的临床治疗中取得很好的疗效,成为现阶段治疗慢性心衰不可或缺的力量。文章根据经典阐述了中医对慢性心衰的病因病机以及治疗的原则和方法,并对近些年中医治疗慢性心衰的方法进行简要综述,确定以扶心阳为主,兼顾祛邪的治疗思想,重视精、气、血以及整体气机的调理,最终从根本上治疗和预防慢性心衰的发生。 展开更多
关键词 慢性心衰 辨证论治 气虚 综合治疗 综述
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Prenatal radiographic evaluation of congenital transverse limb deficiencies:A scoping review
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作者 Neeraj Vij Luis F Goncalves +2 位作者 Aaron Llanes Sean Youn Mohan V Belthur 《World Journal of Orthopedics》 2023年第3期155-165,共11页
BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical sy... BACKGROUND Congenital transverse deficiencies are horizontal deficiencies of the long bones that occur with a reported incidence as high 0.38%.They can occur alone or represent a manifestation of a various clinical syndromes.Diagnosis has tradi-tionally comprised of conventional radiography and prenatal imaging studies.There has been much advancement regarding prenatal imaging modalities to allow for early diagnosis and appropriate treatment.AIM To summarize the current state of knowledge on congenital transverse limb deficiencies and to provide an update regarding the radiographic evaluation of congenital transverse limb deficiencies.METHODS This IRB-exempt scoping review followed the PRISMA-ScR checklist for scoping reviews strictly.Five search engines were searched for a total of 265 publications.Four authors reviewed these during the screening process.Of these,51 studies were included in our article.Prenatal magnetic resonance imaging(MRI),3D Ultrasound,and multidetector Computed tomography(CT)exist are emerging modalities that have the potential to improve diagnosis.RESULTS Use of the appropriate classification system,three-dimensional ultrasonography with a maximum intensity projection,and appropriate use of prenatal MRI and prenatal CT can improve diagnosis and inter-provider communication.CONCLUSION Further scholarly efforts are required to develop improve standardized guidelines regarding the pre-natal radiographic evaluation of congenital limb deficiencies. 展开更多
关键词 Terminal deficiencies Roentgenographic evaluation Pediatric skeletal deficiencies Early diagnosis Patient-centered care Prenatal imaging©The Author(s)2023.Published by Baishideng Publishing Group Inc.All rights reserved.
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基于足底压力和卷积长短期记忆神经网络的前交叉韧带断裂智能辅助诊断
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作者 李玳 王天牧 +5 位作者 张思 秦跃 谢福贵 刘辛军 聂振国 黄红拾 《北京大学学报(自然科学版)》 EI CAS CSCD 北大核心 2024年第1期109-117,共9页
提出一种基于卷积长短期记忆神经网络的深度学习模型PressureConvLSTM,用来提取行走过程中足底压力的空间特征和时序特征,并进行步态分类。通过对前交叉韧带断裂患者的足底压力数据分析,实现智能辅助诊断。结合临床数据的实验结果表明,P... 提出一种基于卷积长短期记忆神经网络的深度学习模型PressureConvLSTM,用来提取行走过程中足底压力的空间特征和时序特征,并进行步态分类。通过对前交叉韧带断裂患者的足底压力数据分析,实现智能辅助诊断。结合临床数据的实验结果表明,PressureConvLSTM模型对前交叉韧带断裂的辅助诊断,能够达到95%的预测准确度;与卷积神经网络等其他模型相比,准确度得到大幅度提升。 展开更多
关键词 智能诊断 前交叉韧带断裂 足底压力 深度学习 卷积长短期记忆神经网络
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血清IGFBP-3、Gd-IgA1在儿童紫癜性肾炎早期诊断中的应用价值
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作者 吴丽敏 张海燕 《国际检验医学杂志》 CAS 2024年第8期950-954,共5页
目的 探索血清胰岛素样生长因子结合蛋白-3(IGFBP-3)及半乳糖缺乏免疫球蛋白A1(Gd-IgA1)联合检测在儿童紫癜性肾炎(HSPN)早期诊断中的应用价值。方法 选取2021年6月至2023年4月在该院确诊的105例首发过敏性紫癜(HSP)患儿作为研究对象,... 目的 探索血清胰岛素样生长因子结合蛋白-3(IGFBP-3)及半乳糖缺乏免疫球蛋白A1(Gd-IgA1)联合检测在儿童紫癜性肾炎(HSPN)早期诊断中的应用价值。方法 选取2021年6月至2023年4月在该院确诊的105例首发过敏性紫癜(HSP)患儿作为研究对象,在入院后按照HSP是否累及肾脏将患儿分为HSPN组及无肾炎组(HSP组),同期选择在该院体检的52例健康儿童作为对照组(NC组)。收集3组临床资料,采用酶联免疫吸附试验(ELISA)对血清及尿液中IGFBP-3、Gd-IgA1表达水平进行检测,受试者工作特征(ROC)曲线分析血清IGFBP-3、Gd-IgA1对HSPN的早期诊断价值,多因素Logistic回归分析HSPN早期发生的影响因素。结果 与NC组相比,HSPN组及HSP组的IgA、IgG、补体C3、IgA/C3、白细胞计数(WBC)、红细胞计数(RBC)、血小板计数(PLT)及血清光抑素C(CysC)、血肌酐(sCr)水平显著升高(P<0.05),但HSPN组与HSP组的临床资料差异无统计学意义(P>0.05);HSPN组及HSP组血清IGFBP-3、Gd-IgA1及尿液IGFBP-3/尿肌酐(uCr)、Gd-IgA1/uCr表达水平较NC组显著升高(P<0.05),并且,与HSP组相比,HSPN组血清IGFBP-3、Gd-IgA1及尿液Gd-IgA1/uCr表达水平进一步升高(P<0.05);ROC曲线分析显示,联合IGFBP-3、Gd-IgA1诊断HSPN的曲线下面积(AUC)显著大于IGFBP-3单独诊断的AUC(Z=3.629,P<0.001)和Gd-IgA1单独诊断的AUC(Z=2.274,P=0.023);多因素Logistic回归分析显示,血清CysC、IGFBP-3、Gd-IgA1、尿液Gd-IgA1/uCr是HSPN早期发生的影响因素(P<0.05)。结论 HSPN患儿血清IGFBP-3、Gd-IgA1的表达水平均显著上升,二者是HSPN早期发生的影响因素,血清IGFBP-3、Gd-IgA1水平联合检测对HSPN的早期诊断具有较高的应用价值。 展开更多
关键词 胰岛素样生长因子结合蛋白-3 半乳糖缺乏IgA1 儿童紫癜性肾炎 早期诊断
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犬蚕豆中毒的诊断与治疗
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作者 李梦楠 吴礼平 +3 位作者 高雅欣 陈冰洁 张欣珂 吕长荣 《动物医学进展》 北大核心 2024年第6期140-144,共5页
蚕豆中毒是葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患者因摄入蚕豆而引起的急性溶血性遗传性疾病,溶血程度在个体间存在广泛差异性。犬蚕豆中毒在兽医临床上极为罕见,以西北农林科技大学西安动物医院接诊的1只采食煮熟蚕豆引起中毒的14岁公... 蚕豆中毒是葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患者因摄入蚕豆而引起的急性溶血性遗传性疾病,溶血程度在个体间存在广泛差异性。犬蚕豆中毒在兽医临床上极为罕见,以西北农林科技大学西安动物医院接诊的1只采食煮熟蚕豆引起中毒的14岁公犬为例,通过病史调查、临床基本检查、实验室检查,确诊患犬为蚕豆中毒性溶血性贫血,经过解毒,生血及对症治疗最终痊愈,为犬蚕豆中毒的诊治提供指导。 展开更多
关键词 蚕豆中毒 葡萄糖-6-磷酸脱氢酶缺乏症 诊断 治疗
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辛开苦降方治疗脾虚气滞型功能性消化不良临床观察 被引量:1
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作者 邵家东 王睿清 +1 位作者 孙博云 胡鸿毅 《西部中医药》 2024年第2期141-144,共4页
目的:观察辛开苦降方治疗脾虚气滞型功能性消化不良(functional dyspepsia,FD)的临床疗效。方法:将70例脾虚气滞型FD患者随机分为观察组(辛开苦降组35例,后脱落1例)和对照组(健脾理气组35例,后脱落2例)。观察组采用辛开苦降方治疗,对照... 目的:观察辛开苦降方治疗脾虚气滞型功能性消化不良(functional dyspepsia,FD)的临床疗效。方法:将70例脾虚气滞型FD患者随机分为观察组(辛开苦降组35例,后脱落1例)和对照组(健脾理气组35例,后脱落2例)。观察组采用辛开苦降方治疗,对照组采用健脾理气法治疗,两组疗程均为4周。观察两组证候疗效、汉密尔顿焦虑量表总评分疗效、单项证候积分及舌诊特征值。结果:证候总有效率观察组[78.79%(26/33)]高于对照组[55.88%(19/34)](P<0.05)。汉密尔顿焦虑量表评分总有效率观察组[72.73%(24/33)]高于对照组[50.00%(17/34)](P<0.05)。胃脘胀满、食少纳呆、善太息、情绪急躁易怒等症状积分差观察组大于对照组,差异有统计学意义(P<0.05)。观察组舌苔厚薄特征值、腐腻特征值高于对照组(P<0.01)。结论:辛开苦降方能有效缓解脾虚气滞型FD的临床症状,缓解焦虑情绪,提高舌苔厚薄特征值及舌苔腐腻特征值。 展开更多
关键词 消化不良 功能性 脾虚气滞 辛开苦降方 焦虑 舌诊客观化
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网织红细胞平均血红蛋白含量在缺铁性贫血及其严重程度的诊断效能分析
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作者 丁宁 刘琳 +2 位作者 金佩佩 王芳 王天凯 《诊断学理论与实践》 2024年第3期318-323,共6页
目的:评价网织红细胞平均血红蛋白含量(mean reticulated hemoglobin content,Mchr)在诊断缺铁性贫血(iron deficiency anemia,IDA)及其严重程度中的价值。方法:选取2021年1月至2021年12月上海交通大学医学院附属瑞金医院(北部院区)、... 目的:评价网织红细胞平均血红蛋白含量(mean reticulated hemoglobin content,Mchr)在诊断缺铁性贫血(iron deficiency anemia,IDA)及其严重程度中的价值。方法:选取2021年1月至2021年12月上海交通大学医学院附属瑞金医院(北部院区)、新华医院和瑞金医院的302例IDA患者,其中轻度贫血118例,中度贫血159例和重度贫血25例,365例非IDA患者(包括地中海贫血、巨细胞性贫血、纯红细胞再生障碍性贫血、溶血性贫血、再生障碍性贫血),以及138名健康体检者。采集所有患者的静脉血样本,检测血红蛋白(hemoglobin,Hb)、红细胞压积(hematocrit,HCT)、Mchr、平均红细胞体积(mean corpuscular volume,MCV)、平均红细胞血红蛋白(mean corpuscular hemoglobin,MCH)、平均红细胞血红蛋白浓度(mean corpuscular hemoglobin concentration,MCHC)、血清铁(serum iron,Fe)、铁饱和度(the saturability of iron,TS)、铁蛋白(Ferritin)和总铁结合力(total iron-binding capacity,TIBC)。比较IDA患者组与非IDA患者组以及IDA不同严重程度之间的Mchr水平,绘制受试者操作特征(Receiver operating characteristic,ROC)曲线,评估Mchr在IDA中的诊断价值。结果:与非IDA组相比,IDA组的Mchr、Hb、MCV、MCH、MCHC、HCT、Fe、TS、Ferritin水平显著降低,而TIBC显著升高,差异均有统计学意义(P<0.05)。IDA组的Mchr与Hb、MCV、MCH、MCHC、HCT、Fe、TS、Ferritin呈正相关,与TIBC呈负相关。轻度、中度、重度IDA患者的Mchr水平依次减低,3组间差异有统计学意义(P<0.05)。ROC曲线分析结果显示,Mchr诊断IDA的最佳临界值为<26.7 pg,诊断灵敏度为80.00%,特异度为93.38%,曲线下面积(the area under the curve,AUC)为0.9338(95%CI为0.9157~0.9518),Mchr+Fe+Ferritin+TIBC联合诊断IDA(各项目的临界值分别为Mchr<26.7pg,Fe<5.7μmol/L,Ferritin<7.1 ng/mL,TIBC>65.8μmol/L)的灵敏度为90.76%,特异度为94.70%,AUC为0.9839(95%CI为0.9772~0.9905)。结论:Mchr可作为诊断筛查IDA及其严重程度的潜在临床指标,其联合铁代谢指标诊断IDA更具有诊断价值,能够为选择是否需要进行侵入性诊断提供有力依据。 展开更多
关键词 平均网织红细胞血红蛋白含量 缺铁性贫血 诊断效率 曲线下面积
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延胡索酸水合酶缺陷型子宫平滑肌瘤的临床病理学特点及鉴别诊断 被引量:1
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作者 李静 罗甜 +2 位作者 李娟 于静 盖秩舶 《现代肿瘤医学》 CAS 2024年第22期4358-4362,共5页
目的:探讨延胡索酸水合酶缺陷型子宫平滑肌瘤(fumarate hydratase-deficient uterine leiomyoma,FH-DUL)的临床病理特点以及鉴别诊断。方法:回顾性分析9例确诊的FH-DUL临床病理资料,总结其形态学特点,进行免疫组织化学分析和鉴别诊断,... 目的:探讨延胡索酸水合酶缺陷型子宫平滑肌瘤(fumarate hydratase-deficient uterine leiomyoma,FH-DUL)的临床病理特点以及鉴别诊断。方法:回顾性分析9例确诊的FH-DUL临床病理资料,总结其形态学特点,进行免疫组织化学分析和鉴别诊断,复习相关文献。结果:9例FH-DUL患者临床上与一般子宫平滑肌瘤无异,光镜下观察组织散在分布血管外皮瘤样血管,间质呈肺泡状水肿,局灶或弥漫分布奇异型细胞、细胞质内嗜酸性小球、嗜酸性大核仁及核周空晕。免疫化学染色:FH表达缺失,2SC阳性,Ki-67阳性指数1%~3%。所有病例均获得随访,患者未见复发且无疾病进展证据。结论:FH-DUL病理形态学和免疫表型与恶性潜能未定的平滑肌肿瘤(smooth muscle tumor of uncertain malignant potential,STUMP)均有重叠,镜下易相互混淆。肿瘤组织中鹿角样血管、疏松水肿区、胞质内嗜酸性小球等是该肿瘤的重要组织学特征,对FH-DUL的诊断有重要提示作用。免疫组织化学有助于该肿瘤的诊断和鉴别诊断,必要时行FH基因检测以辅助诊断。 展开更多
关键词 平滑肌肿瘤 FH缺陷型子宫平滑肌瘤 恶性潜能未定的平滑肌瘤 鉴别诊断 免疫组织化学
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新生儿高氨血症11例临床及基因变异分析
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作者 崔清洋 李珍珍 +3 位作者 曹银利 孙亚洲 唐成和 张钏 《河南医学研究》 CAS 2024年第21期3845-3849,共5页
目的分析11例新生儿高氨血症患儿临床特征、基因变异情况和病因。方法回顾性分析2016年7月至2022年8月新乡医学院第一附属医院新生儿科及甘肃省妇幼保健院收治的11例新生儿期发病的高氨血症患儿临床资料、实验室检查及基因检测结果,并... 目的分析11例新生儿高氨血症患儿临床特征、基因变异情况和病因。方法回顾性分析2016年7月至2022年8月新乡医学院第一附属医院新生儿科及甘肃省妇幼保健院收治的11例新生儿期发病的高氨血症患儿临床资料、实验室检查及基因检测结果,并对其中2例再生育家系进行产前基因诊断。结果11例患儿均表现为反应差,尚有惊厥、意识障碍及呕吐。5例患儿为OTC基因变异所致鸟氨酸氨甲酰基转移酶缺乏症(OTCD),分别为大片段缺失变异、错义变异及剪切变异;4例患儿为CPS1基因变异所致氨基甲酰磷酸合成酶1缺乏症(CPS1D),分别为无义变异、错义变异及剪切变异;1例为ASS1基因变异所致的瓜氨酸血症Ⅰ型(CTLN1),为错义变异;1例为基因检测阴性的新生儿暂时性高氨血症(THAN)。结论对临床新生儿高氨血症需警惕遗传性疾病可能,及时基因检测可明确诊断,积极给予血液净化和肝移植治疗可改善神经发育预后。 展开更多
关键词 高氨血症 新生儿 鸟氨酸氨甲酰基转移酶缺乏症 氨基甲酰磷酸合成酶1缺乏症 瓜氨酸血症Ⅰ型 暂时性高氨血症 基因 产前诊断
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