Sample records for coronary-subclavian steal syndrome

  1. [Coronary subclavian steal syndrome: two cases after coronary artery bypass grafting

    DEFF Research Database (Denmark)

    Penninga, L.; Damgaard, S.


    Reverse flow in the internal mammary artery (IMA) graft due to stenosis or occlusion of the proximal ipsilateral subclavian artery causes coronary subclavian steal syndrome (CSSS). We describe two patients who were diagnosed with CSSS following CABG. Patient A presented with angina pectoris...

  2. Coronary-subclavian steal: presentation and management: two case reports. (United States)

    Fergus, Todd; Pacanowski, John P; Fasseas, Panayotis; Nanjundappa, A; Habeeb Ahmed, M; Dieter, Robert S


    Subclavian stenosis is a highly prevalent and underrecognized clinical entity. In patients with a history of coronary artery bypass grafting utilizing a left internal mammary artery, subclavian artery stenosis can cause coronary-subclavian steal, leading to myocardial ischemia. Traditionally, this has been treated surgically with a vascular bypass operation. Two cases of coronary-subclavian steal syndrome are presented, 1 treated percutaneously with angioplasty and stent, and 1 treated with a combined endovascular-surgical procedure.

  3. Subclavian-steal-Syndrom

    Directory of Open Access Journals (Sweden)

    Wallner H


    brachiocephalicus mit Darstellung der hochgradigen 85 %igen Lumenreduktion der abgehenden Arteria subclavia rechts. Unauffällige Arteria carotis communis und sichtbares Auswaschphänomen der Arteria vertebralis. Film 3: Für die geplante Intervention Wechsel auf einen 8-FFührungskatheter (zerebral Modified™, Cordis und Drahtpassage (Terumo Radifocus™, 260 cm, 0,035 und Prädilatation mittels Ballon (Optiplast™, XT 5 × 20 mm, Bard Film 4: Freisetzung des selbstexpandierenden Stents (Luminexx 3™, 14 × 30/135 cm, Bard. Technisch war es notwendig, den Draht zurückzuziehen, um eine optimale Stentposition zu erreichen. Film 5: Postdilatation (Pheron™, Biotronik, 8 × 20 mm/135 cm. Film 6: Abschlußangiographie mit guter Stentplazierung bei uneingeschränkten Flußverhältnissen in der Arteria carotis communis und antegradem Fluß in der Arteria vertebralis. Zusammenfassung: Bei der ambulanten Kontrolle 4 Wochen nach PTA und Stenteingriff war der Patient beschwerdefrei und hatte auch bei körperlicher Anstrengung keine Symptome mehr. Stenosen der Arteria subclavia mit kompensatorischer Flußumkehr der Vertebralarterien kommen häufiger auf der linken Seite vor. Die Synkopenabklärung sollte somit auch die Möglichkeit eines Subclavian-steal-Syndroms umfassen. Operative Eingriffe an der Arteria subclavia zeichnen sich durch ein gesteigertes Risiko bei schwierigem Zugang aus.

  4. Percutaneous transluminal angioplasty of the left subclavian artery to prevent or treat the coronary-subclavian steal syndrome. (United States)

    Marques, K M; Ernst, S M; Mast, E G; Bal, E T; Suttorp, M J; Plokker, H W


    A hemodynamic significant left subclavian artery stenosis or occlusion proximal to the origin of the left internal mammary artery (LIMA) can result in an impaired or reversed flow through the LIMA and the coronary artery to which it has been anastomosed. In this study, we report on our immediate and long-term follow-up results in 31 consecutive patients who underwent percutaneous transluminal coronary angioplasty of the left subclavian artery shortly before or after coronary artery bypass grafting with use of the LIMA.

  5. Subclavian steal syndrome without subclavian stenosis

    Directory of Open Access Journals (Sweden)

    Matt Cwinn, MD


    Full Text Available Subclavian steal syndrome (SSS has been well described in the setting of subclavian stenosis. We describe an unusual case of SSS caused by a high-flow arteriovenous dialysis fistula in the absence of subclavian stenosis, provide a review of the literature, and propose that arteriovenous fistula-induced SSS is an underdiagnosed cause of syncope in this population of patients.

  6. Radiobasilic Versus Brachiobasilic Transposition on the Upper Arm to Avoid Steal Syndrome (United States)

    Karaca, Okay Guven; Basal, Ahmet Nihat; Ecevit, Ata Niyazi; Kalender, Mehmet; Darcin, Osman Tansel; Sungur, Mehmet Ali


    Background Although the proximal radial artery has been reported as an alternative inflow to prevent steal syndrome, brachiobasilic fistula has been reported to be associated with steal syndrome in 10–20% of cases. We aimed to compare proximal radiobasilic arteriovenous fistula (AVF) with brachiobasilic AVFs on the upper arm in terms of steal syndrome and outcomes. Material/Method We used our institutional operative record database to identify 94 patients in whom brachiobasilic AVF (n=40) and radiobasilic AVF (n=54) were placed between January 2009 and December 2013. Postoperative complications such as steal syndrome, venous hypertension, and aneurysm were recorded. Results Steal syndrome was determined to occur less frequently in the radiobasilic AVF group (0% vs. 10%, P=0.03). The rates of other complications (bleeding, aneurysm, venous hypertension) between the 2 groups were similar, as were the patency rates. Conclusions Radiobasilic AVF was effective in reducing steal syndrome, with similar early and late outcomes. PMID:26713498

  7. Carotid-subclavian bypass for subclavian steal syndrome following coarctation repair in infancy

    Directory of Open Access Journals (Sweden)

    Scott Chowning


    Full Text Available A 19 year old man presented with dizziness that was exacerbated while using left arm. On investigation, subclavian steal syndrome (SSS was diagnosed. He underwent left carotid to subclavian bypass with relief of symptoms. Subclavian steal syndrome, although rare, should be considered in the differential diagnosis in patients with the history of subclavian artery manipulation in the past in proper settings.

  8. Computational modeling of blood flow steal phenomena caused by subclavian stenoses. (United States)

    Blanco, P J; Müller, L O; Watanabe, S M; Feijóo, R A


    The study of steal mechanisms caused by vessel obstructions is of the utmost importance to gain understanding about their pathophysiology, as well as to improve diagnosis and management procedures. The goal of this work is to perform a computational study to gain insight into the hemodynamic forces that drive blood flow steal mechanisms caused by subclavian artery stenosis. Such condition triggers a flow disorder known as subclavian steal. When this occurs in patients with internal thoracic artery anastomosed to the coronary vessels, the phenomenon includes a coronary-subclavian steal. True steal can exist in cases of increased arm blood flow, potentially resulting in neurological complications and, in the case of coronary-subclavian steal, graft function failure. In this context, the anatomically detailed arterial network (ADAN) model is employed to simulate subclavian steal and coronary-subclavian steal phenomena. Model results are verified by comparison with published data. It is concluded that this kind of model allows us to effectively address complex hemomdynamic phenomena occurring in clinical practice. More specifically, in the studied conditions it is observed that a regional brain steal occurs, primarily affecting the posterior circulation, not fully compensated by the anterior circulation. In the case of patients with coronary revascularization, it is concluded that there is a large variability in graft hemodynamic environments, which physically explain both the success of the procedure in cases of severe occlusive disease, and the reason for graft dysfunction in mildly stenosed left anterior descending coronary artery, due to alternating graft flow waveform signatures.

  9. Subclavian steal syndrome presenting as recurrent pulmonary oedema associated with acute left ventricular diastolic dysfunction. (United States)

    Mangialavori, Giuseppe; Ballo, Piercarlo; Michelagnoli, Stefano; Ercolini, Leonardo; Barbanti, Enrico; Passuello, Franco; Abbondanti, Alessandro; Consoli, Lorenzo; Chechi, Tania; Fibbi, Veronica; Nannini, Marco; Chiodi, Leandro; Zuppiroli, Alfredo


    Subclavian steal syndrome typically presents as angina in patients with internal mammary artery grafts. Atypical clinical presentations have been rarely described. We report an unusual case of subclavian steal syndrome presenting as pulmonary oedema with acute left ventricular diastolic dysfunction and preserved ejection fraction in a patient with internal mammary artery graft and severe stenosis of the proximal left subclavian artery. After successful angioplasty and stenting of subclavian artery, the patient remained asymptomatic for six months, but then experienced acute diastolic dysfunction and recurrent pulmonary oedema associated with critical subclavian in-stent restenosis with stent deformation. This report points out that, in patients with internal mammary-to-LAD grafts, subclavian steal syndrome may present as acute left ventricular diastolic dysfunction and pulmonary oedema even in the presence of normal ejection fraction.

  10. Impotence due to external Iliac steal syndrome: Treatment with percutaneous transluminal angioplasty and stent placement

    Energy Technology Data Exchange (ETDEWEB)

    Gur, Serkan [Sifa University, Dept. of Radiology, Izmir (Turkmenistan); Oguzkurt, Levent; Kaya, Bilal; Tekbas, Guven; Ozkan, Ugur [Baskent University, Faculty of Medicine, Dept. of Radiology, Adana (Turkmenistan)


    We report a case of erectile dysfunction caused by external iliac artery occlusion, associated with pelvic steal syndrome; bilateral internal iliac arteries were patent. The patient stated that he had experienced erectile dysfunction at similar times along with claudication, but he did not mention it before angiography. He expressed that the erectile dysfunction did not last long and that he felt completely okay after the interventional procedure, in addition to his claudication. Successful treatment of the occlusion, by percutaneous transluminal angioplasty and stent implantation, helped resolve erectile dysfunction completely and treat the steal syndrome.

  11. Subclavian steal syndrome: treatment by percutaneous transluminal angioplasty; Sindrome do roubo da subclavia: tratamento por angioplastia transluminar percutanea

    Energy Technology Data Exchange (ETDEWEB)

    Abath, Carlos Gustavo Coutinho [Instituto de Medicina e Cirurgia, Recife, PE (Brazil)]|[Hospital Memorial Sao Jose, Recife, PE (Brazil); Silva, Marcos Antonio Barbosa da [Instituto de Medicina e Cirurgia, Recife, PE (Brazil); Brito, Norma Maria Tenorio [Hospital Memorial Sao Jose, Recife, PE (Brazil); Marques, Silvio Romero; Santa Cruz, Rodolfo [Pernambuco Univ., Recife, PE (Brazil). Hospital das Clinicas; Henrique, Darcy [Real Hospital Portugues, Recife, PE (Brazil)


    The subclavian steal syndrome is a rare vascular disease that can be managed by interventional radiology. It is presented the experience with three cases of this syndrome that underwent percutaneous transluminal angioplasty, and a brief literature review is done. Two patients remained asymptomatic 23 and 30 months, respectively, after the procedure. One patient presented with recurrent symptoms 12 months after the dilatation. Considering the low morbidity and good clinical and technical results, percutaneous transluminal angioplasty is the first choice in the subclavian steal syndrome treatment. (author). 9 refs., 3 figs.

  12. Effectiveness of skin perfusion pressure monitoring during surgery for an ischemic steal syndrome associated refractory ulcer. (United States)

    Okubo, Kentaro; Sato, Takashi; Matsubara, Chieko; Tsuboi, Masato; Ishii, Yasuo; Tojimbara, Tamotsu


    We describe an 80-year-old man with end-stage renal disease due to type 2 diabetes who had been maintained on hemodialysis for 9 years. He developed refractory ulcers from an abraded wound in the right hand of his access arm. The arteriovenous fistula (AVF) was located between the right brachial artery and the median antecubital vein draining into the cephalic vein and the deep veins close to the elbow. The blood flow of the right brachial artery measured by using Doppler ultrasonography was 920 ml/min. On the contrary, the radial and ulnar arteries were poorly palpable near the wrist, and ultrasonography could not be performed accurately because of a high degree of calcification. The skin perfusion pressure (SPP) of the first finger on the affected side decreased to 22 mmHg. However, the SPP improved to approximately 40 mmHg upon blocking an inflow into the deep vein. According to SPP data, only a communicating branch of the deep vein was ligated, and the AVF itself was preserved. One month after surgery, the skin ulcer healed, and maintenance hemodialysis was performed by using the preserved cephalic vein for blood access.In conclusion, we successfully treated a refractory wound associated with steal syndrome, without terminating the AVF. SPP-guided surgery may be safe and effective to adjust the blood flow in patients with AVF having steal syndrome.

  13. Arterial steal syndrom in patients after liver transplantation: transarterial embolization of the splenic and gastroduodenal arteries; Arterielles Steal-Syndrom bei Patienten nach Lebertransplantation: transarterielle Embolisation von A. lienalis oder A. gastroduodenalis

    Energy Technology Data Exchange (ETDEWEB)

    Vogl, Th.J.; Pegios, W.; Balzer, J.O.; Lobo, M. [Frankfurt Univ. (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie; Neuhaus, P. [Klinik fuer Allgemeinchirurgie und Transplantationschirurgie Campus Charite, Virchow-Klinikum (Germany)


    Purpose: To evaluate transaterial embolization of splenohepatic and gastroduodenal steal syndrome in patients with impaired liver function tests after liver transplantation. Methods and Material: In a prospective study 22 patients (10 male, 12 female; mean age 49.5 years) with unexplained elevation of hepatic enzymes after liver transplantation underwent transcatheter arterial embolization of splenohepatic (n = 18) and gastroduodenal (n = 4) steal syndrome with use of Gianturco coils or microcoils. Liver and spleen parenchyma were surveyed and evaluated before and after embolization with plain helical CT, including volumetry of liver and spleen. Results: DSA examinations revealed a dilated splenic artery (n = 18) or gastroduodenal artery (n = 4) combined with a slightly decreased perfusion of the hepatic arteries, while immediately after successful embolization a normal perfusion of the hepatic arteries could be noted. Volumetric measurements before and after embolization showed no significant changes in liver parenchyma (x = + 7% {+-} 2), and variable changes in splenic volume of - 5% to + 28% (mean, + 11%), with initial measurements. Clinical follow-up examinations revealed a normalization of the previously elevated hepatic enzymes and a normalization of liver function tests after successful embolization. Complications were observed in 4 patients (infarction of the spleen). Conclusions: The preliminary results reveal that in liver transplant candidates with splenohepatic and gastroduodenal steal syndrome successful embolization results in an improvement of organ perfusion with normalization of function tests. (orig.) [German] Einleitung: Evaluierung der transarteriellen Embolisation von A. lienalis/A. gastroduodenalis-Steal-Syndromen bei Patienten mit erhoehten Laborparametern nach Lebertransplantation. Material und Methode: Im Rahmen einer prospektiven Studie wurden 22 Patienten (maennlich/weiblich: 12/10) mit aetiologisch unklarer Erhoehung der Leberenzyme nach

  14. Endovascular Treatment of Right Coronary-to-Bronchial Anastomosis with Bronchopulmonary Shunt Presenting as Coronary Steal Syndrome: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Il Joong; Kim, Dong Hyun; Koh, Young Youp [Chosun University, College of Medicine, Gwangju (Korea, Republic of)


    The occurrence of an anastomosis between the coronary artery to the systemic artery is rare. However, the probability of hemodynamic changes sufficient to cause clinical symptoms is extremely low. Anastomosis of the coronary to bronchial artery can cause myocardial ischemia due to the decreased flow to the coronary arteries. The authors report a case of coronary to bronchial artery anastomosis presenting as coronary steal syndrome that was treated with transarterial microcoil embolization instead of surgical ligation.

  15. Steal phenomenon in Sturge-Weber syndrome imitating an ictal electroencephalography change in the contralateral hemisphere: report of 2 cases. (United States)

    Limotai, Chusak; Go, Cristina Y; Baba, Shiro; Okanari, Kazuo; Ochi, Ayako; Rutka, James T; Snead, O Carter; Otsubo, Hiroshi


    Infants with Sturge-Weber syndrome (SWS) are considered for surgery if they develop seizures and the seizures prove medically refractory. The authors report on 2 infants (15 and 19 months old) with SWS who underwent scalp video electroencephalography (EEG) and subsequent functional hemispherotomy for intractable partial motor seizures due to extensive left hemispheric angiomatosis. They presented with similar interictal and ictal EEG findings. Ictal EEG showed abrupt high-amplitude delta slow waves, without evolution on the contralateral hemisphere before the build-up of ictal EEG changes on the lesional hemisphere. The patients became seizure free after hemispherotomy. The ictal contralateral slow waves were not a sign of an ictal hemisphere and may indicate prominent ischemic changes resulting from a steal phenomenon of hemispheric angiomatosis during seizure.

  16. Diagnostic Performance of Combined Contrast-Enhanced Magnetic Resonance Angiography and Phase-Contrast Magnetic Resonance Imaging in Suspected Subclavian Steal Syndrome. (United States)

    Tsao, Teng-Fu; Cheng, Kai-Lun; Shen, Chao-Yu; Wu, Ming-Chi; Huang, Hsin-Hui; Su, Chun-Hung; Chen, Fong-Lin; Tyan, Yeu-Sheng; Lin, Yung-Chang


    The study sought to evaluate the efficacy of magnetic resonance imaging (MRI) in patients with suspected subclavian steal syndrome (SSS) using both contrast-enhanced (CE) MR angiography and phase-contrast (PC) MRI. Fifteen suspected SSSs from 13 patients were evaluated using CE-MR angiography and PC-MRI. Ten patients also received dynamic CE-MR angiography. All MRI examinations were technically successful. By combining CE-MR angiography with PC-MRI, 10 SSSs were diagnosed in 9 patients. The delay enhancement dynamic technique predicted SSS with a sensitivity, specificity, and accuracy of 57.1%, 100%, and 72.7%, respectively. Without the dynamic technique, affected delay-enhanced arteries were poorly visualized and could be mistaken for occluded vessels. Retrograde vertebral flow by PC-MRI was used to predict ipsilateral SSS with a sensitivity, specificity, and accuracy of 100%, 60%, and 86.7%, respectively. There were 2 false positives including 1 patient with a proximal total occlusion of the affected vertebral artery and another with brachiocephalic steal syndrome rather than SSS. This suggested that retrograde vertebral flow does not always indicate SSS. CE-MR angiography combined with PC-MRI is efficacious when evaluating SSS in clinical practice. Copyright © 2016 Canadian Association of Radiologists. Published by Elsevier Inc. All rights reserved.

  17. Anterior Circulation Steal Syndrome

    Directory of Open Access Journals (Sweden)

    Motahareh Afrakhteh


    Full Text Available Introduction: Arteriovenous fistula (AVF can be congenital or acquired. Congenital AVF are less common while acquired fistula are most frequently the result of penetrating trauma or iatrogenic action. Acquired common carotid jugular fistulas are uncommon in the head and neck region, accounting only 4 to 7% of all the traumatic AVFs encountered throughout the body that is not usually detected during the acute injury phase. Objective: For the first time in our center we diagnose and treat a carotid jugular vein fistula due to neck stab wound. Case Description: A 48 years old man with neck stab wound and strangulation was treated as an outpatient in a clinic with suturing the wound. he was stable and discharged without apparent neurologic deficit, after two days he was referred to our center due to left hemiparesis .in our assessment, Brain imaging showed right side hemodynamic infarct, in carotid duplex the flow was bidirectional and low RI, in angiography there was fistula from Right ICA to jugular vein, in left ICA angiography there was reversible flow from Right distal ICA to the fistula. After two times of brachychardia and asystolic cycle the patient was intubated and CPR was done. Cardiac arrest maybe because of cardiac problems dueto carotid jugular fistula. Approach: Due to carotid injury and high flow fistula, the Right ICA jugular fistula was obliterated by Balloon and ICA was also sacrificed. in left ICA Angiography the flow to Right ICA was stopped and MCA  and ACA got flow from left side .the patient was stable and after few days he could be extubated and he was discharged with stable condition. Discussion: Carotid jugular fistula is a rare complication of neck trauma, because its symptoms appear late, with neurologic deficit many times neurologist was suspect to dissection and maybe MRA and CTA report Carotid occlusion but Duplex is an efficient device to differentiated between these two disease. in dissection  there is prestenotic pattern and we can see the Flap flow in pseudolumen but in Carotid jugular fistula there is bidirectional and low resistance flow in proximal ICA. Meanwhile jugular vein have pulsatile flow due to direct carotid arterial flow.we presented a case of carotid-jugular fistula following cervical trauma.we are implicating on the role of carotid duplex for evaluation of cervical trauma. Duplex could efficiently differentiate between the two major  complication of trauma that is cervical arteries dissection and carotid-jugular fistula.

  18. Novel management strategy for coronary steal syndrome: case report of occlusion of a LIMA graft side branch with a combination of drug-eluting and covered-stent deployment.

    LENUS (Irish Health Repository)

    Hynes, Brian G


    We report a novel percutaneous therapeutic approach to the management of suspected coronary artery steal syndrome resulting from a large side branch of the left internal mammary artery bypass graft, using a combination of coated and drug-eluting stents. We demonstrate the feasibility and long-term efficacy of this strategy in a case report.

  19. My Child Is Stealing (United States)

    ... there's often little sympathy for repeat offenders. Further punishment , particularly physical punishment, is not necessary and could make a child ... They should also know that stealing is a crime and can lead to consequences far worse than ...

  20. 肝移植术后脾动脉盗血综合征的诊断与治疗%Diagnosis and treatment of splenic artery steal syndrome after orthotopic liver transplantation

    Institute of Scientific and Technical Information of China (English)

    潘澄; 田大治; 史源; 张威; 陈光; 张建军; 张玮晔; 沈中阳


    Objective To study the clinical data of the splenic artery steal syndrome(SASS) after liver transplant surgery.Methods The clinical data of 1020 cases of liver transplantation were retrospectively analyzed,the SASS occurrence in recipients was observed,and the factors influencing SASS incidence,including the recipients' gender,primary disease,thrombocyte level before transplantation,the liver donor conditions,graft to recipient weight ratio(GRWR),etc,were statistically analyzed.The diagnosis of SASS was achieved by a combination of B-ultrasound and digital subtraction angiography(DSA).All patients were subjected to super-selective embolization of the steal artery.A post-operative follow-up of 8~36 months was conducted after the surgery.Results Eleven(1.09%)of the recipients undergoing liver transplantation were diagnosed as SASS,all occurring within one month post-operation,with an average of(13.63±10.93)days.Recipients'gender,primary disease,or thrombocyte level before transplantation showed no statistically significant difference(P>0.05),while low GRWR indicated a higher incidence of SASS(P<0.01).After interventional therapy.all 11 recipients displayed good condition,with normal liver blood flow and liver function,and no signs of thrombus and ischemic biliary complication.Only one of the patients developed small pieces of spleen infarction after interventional therapy.Conclusions SASS has no early specific clinical manifestation after transplantation.The monitor of low GRWR recipients is very important.The adoption of B-ultrasound and DSA provides a meads of early detection.After SASS is confirmed,treatment of super-selective embolization of steal artery is recommended.%目的 探讨肝移植术后脾动脉盗血综合征(SANS)的诊断和治疗.方法 回顾性分析1012例肝移植受者的临床资料,观察受者SASS的发生情况,并应用统计学方法分析受者性别、原发疾病、术前血小板水平及移植肝与受者的重量比(GRWR)

  1. Digital Piracy and Stealing: A Comparison on Criminal Propensity

    National Research Council Canada - National Science Library

    Szde Yu


    Digital piracy is compared to stealing by copyright holders. However, research has consistently found that perpetrators never viewed digital piracy as immoral or unethical, as they would view stealing...

  2. 脾动脉盗血综合征:一个被忽视的肝病治疗靶点%Splenic arterial steal syndrome:a neglected therapeutic target for livel diseases

    Institute of Scientific and Technical Information of China (English)

    刘全达; 宋扬; 周宁新


    肝脏对动脉低灌注所致的缺氧非常敏感,这在肝移植术后移植物并发症(如肝动脉血栓形成、动脉瘤)中已经得到证实,可导致严重的胆道缺血性损害、移植物失功能、甚至受体死亡等严重并发症.脾动脉盗血综合征(SASS)是肝移植术后一种较少认识的动脉并发症.SASS本质是粗大的脾动脉"盗走"肝动脉血流而导致肝动脉灌注不良;不及时干预,SASS亦可导致严重的移植物并发症.目前临床上尚未形成"肝硬化性SASS"概念,更未认识其危害性.肝硬化性SASS是慢性肝病损害的结果,并加重肝损害的病理过程,临床上无特异性,多表现为基础肝病合并脾脏肿大等异常.我们通过三维CT血管成像及血管造影证实失代偿期肝硬化患者普遍存在SASS,并证实纠正SASS后肝硬化患者的肝功能指标、Child-Pugh评分、评级等显著改善,并降低了消化道出血风险.因此,该文在国际上首次提出了肝硬化性SASS概念,并证实SASS是失代偿期肝硬化患者改善肝功能的一个有效治疗靶点,可作为等待肝移植的架桥性治疗措施.%The liver is extremely susceptible to ischemia resulting from arterial hypoperfusion, which is confirmed by the graft arterial complications(such as hepatic artery thrombosis, aneurysm) after liver transplantation.Arterial hypoperfusion may lead to severe complications, e.g.ischemic biliary destruction, graft loss, even recipient death.Splenic arterial steal syndrome(SASS) is a seldomrecognized arterial complication following liver transplantation.SASS describes the phenomenon of poor arterial perfusion of hepatic parenchyma due to “stealing” or diverting of blood from the hepatic artery to the dilated splenic artery.SASS also can cause severe graft morbidity if it is not managed timely.However, there still has no clear concept of SASS in cirrhosis, moreover, the clinicians have not realized its risks to liver dysfunction.Cirrhotic SASS is a

  3. The Value of Preoperative CT Angiography for Splenic Artery Steal Syndrome in Liver Transplantation%术前CT血管成像对肝移植脾动脉盗血综合征的预估

    Institute of Scientific and Technical Information of China (English)

    高海军; 陈光; 祁吉


    Objective To estimate the value of preoperative CT angiography( CTA ) in predicting the splenic artery steal syndrome (SASS) in liver transplantation. Methods 8 cases with SASS ( group A) and 8 healthy control subjects (group B) underwent CTA. The diameters of splenic artery and hepatic artery,the volume of liver and spleen, the ratio of splenic artery to hepatic artery (SA/HA) ,the ratio of hepatic volume to splenic volume( HV/SV) in both group A and B were measured before the transplantation of liver using GE ADW4. 2 at workstation and analysed statistically using SPSS 13. 0 statistic software. Results There were significant differences statistically between group A and B in the diameters of splenic artery( P= 0. 008 , P<0. 05 ) and SA/HA( P = 0. 015 ,P<0. 05). While there were no significant statistically differences between group A and B in hepatic artery diameter, spleen volume,liver volume and HV/SV ( P= 0. 364 , 0. 78 , 0. 624 and 0. 172 , respectively, P>0. 05 ). Conclusion The splenic artery diameter and HV/SV have important symptomatic significance for the happening of SASS whether or not. And it is to hint that the possibility of SASS is high when splenic artery diameter exceeds 7. 5 mm and SA/HA cxcecds 1. 2.%目的 评价术前CT血管成像对肝移植术后脾动脉盗血综合征的预估价值.方法 脾动脉盗血组(A组)及正常对照组(B组)各8例行CT血管成像.应用GE ADW4.2工作站,测量脾动脉盗血组和正常组病人肝移植术前肝动脉直径,脾动脉直径,肝脏体积,脾体积及其比值.使用SPSS 13统计软件,对2组数据进行统计分析.结果 脾动脉盗血组和正常组脾动脉直径在统计学上有显著的差别(P=0.008,P0.05).结论 脾动脉直径、脾动脉直径/肝动脉直径对术后是否发生盗血具有重要提示意义,并且脾动脉直径>7.5 mm、脾动脉直径/肝动脉直径>1.2提示发生盗血的概率较大.

  4. On Stealing Words and Ideas

    Directory of Open Access Journals (Sweden)

    Farrokh Habibzadeh


    Full Text Available Over the past decades, Iran has had such a sharp increase in science production that it was placed among the 31 countries of the world that published the so-called "top 1% most cited publications" (1. I believe such a surge in science production by Iran has several reasons including allocation of a larger budget to the scientific research sector, increased number of graduates and assistant professors over the recent years, and the requirement for junior professors and postgraduate students to publish scientific articles in recognized journals to obtain academic career promotion, and to graduate, respectively (2.Expectedly, as scientific research and pressure over researchers increase, science misconduct also comes to the surface (3. "Plagiarism" as one of the most frequent science misconducts observed in daily practice of an Editor, means "to steal and pass off (the ideas or words of another as one's own" (4 and is strongly condemned universally by scientific community (5. However, there is yet no consensus as to how many words or statements or what portion of a Table or Figure from another work would be re-used to be referred to as plagiarism. The situation becomes a little bit more perplexing with "self-plagiarism;" using portions of our own published articles, as this often violates the copyright that has been assigned to the publisher (6. There are not so many ways to present the same thing in several occasions. This is particularly true for some methodologies used in science research. Therefore, it is not surprising that self-plagiarism is widespread particularly among prolific authors and sometimes unintentional. And, that is why many authorities do not treat self-plagiarism in the same light as plagiarism (6.My experience with editing of hundreds of manuscripts has led me to believe that many researchers, at least in Iran, plagiarize because they simply do not know that it is an illegitimate act. Sometimes a non-native English speaking

  5. Predicting Factors of Happiness in Mobarekeh Steal

    Directory of Open Access Journals (Sweden)

    Himidtaher Neshat Doost


    Full Text Available The purpose of the present study was to predict factors of happiness in the Mobarekeh Steal Companypersonel. Subjects were consisted of 400 individuals who were randomly selected from stuffs (6200 individualsof Mobarekeh Steal Company. The measures were consisted of Oxford Happiness Questionnaire anddemographic questionnaire.The results of the Pearson correlation coefficient showed a significant relationship between personnelhappiness with life satisfaction, optimism, family satisfaction, wife happiness, sport, job satisfaction, socialrelations, deep faith to God, art, studying, traveling, psychological problems, and history of physical illnesses (P< 0.01.The results of stepwise regression showed that in total, life satisfaction, sport, optimism, wife happiness andhistory of psychiatric disorders of personnel significantly predicted 54% of their happiness.

  6. 肝移植术后脾动脉盗血综合征的诊断和防治%Diagnosis, prophylaxis and treatment of splenic arterial steal syndrome after orthotopic liver transplantation

    Institute of Scientific and Technical Information of China (English)

    邹卫龙; 张薇; 任秀昀; 曾镕; 陈新国; 沈中阳


    目的 探讨肝移植术后脾动脉盗血综合征(SASS)的诊断标准、预防规范、治疗手段及其临床效果.方法 2004年1月至2013年12月,在武警总医院收治的全部1 385例肝硬化肝移植患者中,有318例(23.0%)为术前脾脏增大且脾动脉(SA)口径肝总动脉(CHA)口径比值≥1.5的SASS高风险患者.术中针对多普勒超声(DUS)肝动脉血流迟缓(<30 cm/s)甚或没有血流对患者采用预防性脾动脉环阻(干预组,127例,39.9%),与其余191例(对照组)比较,观察其预防SASS效果及安全性.对发生SASS的患者根据发生时机和程度分别采取脾动脉栓塞(SAE)、脾动脉结扎(SAL)、脾脏切除(SPT)、肝动脉与腹主动脉重建(HTA)或再次肝移植手术(re-OLT).结果 干预组患者预防性脾动脉环阻后CHA血流量[环阻前(19.3±5.5) cm/s、环阻后(45.9 ±9.1)cm/s,P<0.05]立即改善,阻力指数(RI)全部恢复到正常水平(0.5 ~0.8),无SASS发生、也未观察到其他动脉或胆道相关并发症.对照组发现SASS 17例(8.9%):5例急诊实施脾动脉栓塞CHA血流立即改善;12例患者(含11例继发肝动脉血栓形成)分别HTA(4例)、SAL(3例)、SPT(5例);其中3例接受再次肝移植;2例因肝功能衰竭死亡.结论 SASS是肝移植术后严重并发症,高风险患者预防性脾动脉环阻具有可靠的疗效和安全性,及时诊断移植物早期SASS并实施脾动脉栓塞是有效的补救措施.%Objective To study the diagnosis,prophylaxis and treatment of splenic artery steal syndrome (SASS),and to evaluate their clinical outcomes in recipients who underwent orthotopic liver transplantation (OLT).Methods 1 385 consecutive patients who suffered from liver cirrhosis and had undergone OLT in our hospital between Jan,2004 and Dec,2013 were studied.We hypothesized that patients were at risk of SASS when the calibre of the splenic artery (SA) was 1.5 times larger than the common hepatic artery (CHA) together with splenomegaly (318

  7. 原位肝移植术后脾动脉窃血综合征的危险因素分析%The risk factors of splenic arterial steal syndrome after orthotopic liver transplantation

    Institute of Scientific and Technical Information of China (English)

    张鲁洲; 滕大洪; 陈光; 王政禄; 唐缨; 高海军; 郑虹


    Objective To discuss the risk factors of splenic arterial steal syndrome (SASS) after orthotopic liver transplantation.Methods Twenty-four cases who confirmed SASS after liver transplantation in Tianjin First Central Hospital between June 2005 and June 2013 were analyzed retrospectively.Another 96 cases were selected randomly from those patients of the same time with no complication of SASS patients postoperatively as control group.Clinical data of two groups including diameter of splenic artery and hepatic artery preoperatively, weight of graft, weight of recipients, cold/warm ischemia time, an hepatic period and operation time and so on were collected.Others including hepatic artery peak systolic velocity (PSV), end diastolic velocity (EDV) ,blood flow resistance index and portal vein average velocity(PVF) on the first day after liver transplantation, the day before diagnosis, the day when diagnosed, the 1,3,7 days after treatment in SASS group and on 1,3,7,9,11,14 days after liver transplantation in control group.Statistical analysis were made between two groups.Results The splenic artery/hepatic artery ratio preoperatively and weight of donor liver,and the GRWR in SASS group and control group were 1.26 and 1.00, 1 032 g and 1 075 g,(1.40 ± 0.30) % and (1.82 ± 0.21) % respectively, with significantly statistical differences (Z =-6.40,Z =-2.22,t =-6.50;all P < 0.05).The warm ischemia time, the cold ischemia time, the anhepatic period and operation time in SASS group and control group were 3.5 minutes and 4.0 minutes, 10.25 hours and 10.10 hours,43 minutes and 45 minutes, 8.7 hours and 8.7 hours, with no significantly statistical differences(all P > 0.05).RI of hepatic went up gradually in the early time after transplantation while dropped obviously when spleen artery spring coils embolization was received (P < 0.01) and trended to stable two weeks later.Conclusions Splenic artery/hepatic artery ratio and GRWR are the positive and negative risk factors

  8. [Scientific stealing (Plagiarism) in medical journals]. (United States)

    Enöz, Murat


    The obligation to publish academic papers in order to get academic rank has made medical doctors more ambitious to publish faster and more papers. According to the ethical and legal rules in our country and in the world, if an idea or technical methods of another person is used in a medical journal, the owner of the method or idea and its publication has to be cited. If an idea, information or a technical method of another scientist is published without citation as if it was one's own idea it's called "Plagiarism". Despite the prohibitive laws and rules, this scientific stealing has become an increasing problem for medical journals worldwide.

  9. Stealing among High School Students: Prevalence and Clinical Correlates (United States)

    Grant, Jon E.; Potenza, Marc N.; Krishnan-Sarin, Suchitra; Cavallo, Dana A.; Desai, Rani A.


    Although stealing among adolescents appears to be fairly common, an assessment of adolescent stealing and its relationship to other behaviors and health issues is incompletely understood. A large sample of high school students (n=3999) was examined using a self-report survey with 153 questions concerning demographic characteristics, stealing behaviors, other health behaviors including substance use, and functioning variables such as grades and violent behavior. The overall prevalence of stealing was 15.2% (95%CI: 14.8–17.0). Twenty-nine (0.72%) students endorsed symptoms consistent with a diagnosis of DSM-IV kleptomania. Poor grades, alcohol and drug use, regular smoking, sadness and hopelessness, and other antisocial behaviors were all significantly (p<.05) associated with any stealing behavior. Stealing appears fairly common among high school students and is associated with a range of potentially addictive and antisocial behaviors. Significant distress and loss of control over this behavior suggests that stealing often has significant associated morbidity. PMID:21389165

  10. Can a sense of entitlement increase stealing?

    DEFF Research Database (Denmark)

    Gravert, Christina Annette

    was asked to roll a die to determine their payoff, while the other group had three minutes to find matching numbers in a matrix task. Participants then paid themselves unobserved by the experimenter. I find that the participants who earned their payoff according to performance were three times more likely...... to take the (undeserved) maximum payoff than the participants in the random payment scheme. In contrast to previous findings in the cheating literature, stealing is an all-or-nothing decision rather than a trade-off between a slightly higher payoff and the desire to keep ones moral values intact....... The results support the theory that unethical behavior is increased by a sense of entitlement, which is more pronounced when wealth depends on performance than on the roll of a die....

  11. Memantine reduces stealing behavior and impulsivity in kleptomania

    DEFF Research Database (Denmark)

    Grant, Jon E; Odlaug, Brian Lawrence; Schreiber, Liana R N


    Kleptomania is characterized by repetitive stealing behavior and has been associated with deleterious unwanted outcomes including forensic contact and increased rates of suicidal behavior. Very few trials have been conducted to investigate pharmacological treatment options for this neglected...

  12. Sleep-disordered breathing and arterial blood flow steal represent linked therapeutic targets in cerebral ischaemia. (United States)

    Barlinn, Kristian; Alexandrov, Andrei V


    The pathogenic link between sleep-disordered breathing and early neurological deterioration in acute ischaemic stroke patients is now a subject of clinical investigations. Vasomotor reactivity and intracranial blood flow steal in response to changing vasodilatory stimuli like carbon dioxide play a pivotal role in clinical deterioration with reversed Robin Hood syndrome. A mechanical ventilatory correction in selected acute stroke patients might have a beneficial effect on sleep-disordered breathing and brain perfusion. This is a novel therapeutic target and the missing link in the pathogenesis of early neurological deterioration and stroke recurrence. © 2011 The Authors. International Journal of Stroke © 2011 World Stroke Organization.

  13. 肝移植术后脾动脉盗血综合征六例诊治分析%Diagnosis and Treatment of Splenic Artery Steal Syndrome after Liver Transplantation:Long-term Following-up Outcomes of Six Cases

    Institute of Scientific and Technical Information of China (English)

    刘全达; 周宁新; 宋扬; 靳志涛; 许小亚


    目的 探讨肝移植术后脾动脉盗血综合征(SASS)的诊断和治疗.方法 回顾性分析6例SASS患者的临床表现、影像学检查结果、治疗及效果.结果 87例肝移植患者中共6例(6.9%),经腹腔动脉造影证实发生肝移植术后SASS,其中1例SASS患者合并肝动脉血栓形成,1例SASS患者合并附壁血栓、肝动脉狭窄,均经溶栓后再通.6例肝移植术后SASS患者在术后早期出现淤胆、肝功能损害等异常.3例SASS患者于术后13~63 d内接受脾动脉栓塞,恢复顺利;1例SASS患者因胆道损害2次行内镜下逆行性胆胰管造影、胆管取栓、左半肝切除和右肝管-空肠吻合术,术后仍存在持续淤胆,术后5年经动脉造影证实SASS并实施脾动脉栓塞,但淤胆无明显缓解.2例未接受治疗的SASS患者,均死于胆道感染和(或)移植物失功能.结论 肝移植术后SASS能导致肝动脉血栓形成、胆道损害和移植物失功能等严重并发症.预防性脾动脉结扎和经导管脾动脉栓塞是最有效的治疗方法.应早期纠正SASS,避免其严重后果.%Objective To clarify the diagnosis and treatment of splenic artery steal syndrome ( SASS ) after liver transplantation and its sequela. Methods The clinical manifestations, imaging findings, treatments and follow-up outcomes were analyzed retrospectively in 6 SASS patients. Results Among 87 cases undergoing liver transplantation, 6 patients ( 6. 9% ) were confirmed by celiac arteriography as post -livergrafting SASS, among whom 1 complicated by hepatic artery thrombosis and 1 by hepatic artery stenosis and mural thrombosis were recanalized by emergent thrombolysis. The 6 patients presented early with elevated liver enzyme levels, cholestasis and impaired graft function. Three patients receiving transcatheter splenic artery emboli-zation with Gianturco coils within 13 ~63 days after operation recovered uneventfully. One patient underwent 2 episodes of ERCP and bile duct thrombectomy

  14. Duty to report: Legal implications of nurses stealing from patients. (United States)

    Dimond, Bridgit

    This article explores the situation when a nurse receives a report from a patient that a colleague is stealing from the patient. It looks at the duty of the nurse and the issues which may arise when she tries to put her duty into action. It also considers the legal situation of the colleague who is the subject of the allegations.

  15. Clinical evaluation of percutaneous endovascular stent implantation on patients with subclavian artery steal blood syndrome%经皮血管内支架植入治疗锁骨下动脉盗血综合征的临床疗效

    Institute of Scientific and Technical Information of China (English)

    赵小妹; 刘永刚; 赵静; 许云鹤; 曹姗; 任翠剑


    Objective To evaluate the short-term and long-term clinical efficacy of per-cutaneous endovascular stent implantation in the treatment of subclavian artery steal blood syndrome (SSS).Methods A total of 28 SSS patients treated in our hospital from January 2010 to January 2012 were selected and given percutaneous endovascular stent implantation as well as transcranial doppler ultrasound (TCD),carotid duplex ultrasound (CDU)and digital subtraction angiography (DSA)before and after treatment.Follow-up was ended in January 2014 to observe the short-term and long-term clinical efficacy.Results Postoperative TCD,CDU and DSA showed positive blood flow in vertebral and basilar arteries and improved clinical symptoms in SSS patients.Only 3 patients were with relevant complications and 2 with recurrence ones at the end of follow-up.Con-clusion Percutaneous endovascular stent implantation is effective and safe in treating SSS with TCD and CDU as its routine therapies for follow-up clinic.%目的:评估经皮血管内支架植入术治疗锁骨下动脉盗血综合征(SSS)的近期和远期临床疗效。方法选取2010年1月-2012年1月在本院就诊的28例 SSS 患者为研究对象,所有患者均行经皮血管内支架植入术,术前及术后均行经颅多普勒超声检查(TCD)、颈部血管彩超(CDU)及脑血管造影(DSA)检查。随访至2014年1月,观察近期及远期临床疗效。结果术后 TCD、CDU 和 DSA 检查显示,患者椎动脉及基底动脉均为正向血流,临床表现为显著改善,仅3例出现相关并发症,至随访结束时,仅2例出现症状复发。结论经皮血管内支架植入术治疗 SSS 有效、安全,且 TCD、CDU 可作为随诊常规手段。

  16. Garden sharing and garden stealing in fungus-growing ants (United States)

    Adams, Rachelle M. M.; Mueller, U. G.; Holloway, Alisha K.; Green, Abigail M.; Narozniak, Joanie

    Fungi cultivated by fungus-growing ants (Attini: Formicidae) are passed on between generations by transfer from maternal to offspring nest (vertical transmission within ant species). However, recent phylogenetic analyses revealed that cultivars are occasionally also transferred between attine species. The reasons for such lateral cultivar transfers are unknown. To investigate whether garden loss may induce ants to obtain a replacement cultivar from a neighboring colony (lateral cultivar transfer), pairs of queenright colonies of two Cyphomyrmex species were set up in two conjoined chambers; the garden of one colony was then removed to simulate the total crop loss that occurs naturally when pathogens devastate gardens. Garden-deprived colonies regained cultivars through one of three mechanisms: joining of a neighboring colony and cooperation in a common garden; stealing of a neighbor's garden; or aggressive usurpation of a neighbor's garden. Because pathogens frequently devastate attine gardens under natural conditions, garden joining, stealing and usurpation emerge as critical behavioral adaptations to survive garden catastrophes.

  17. Optimizing Data Locality for Fork/Join Programs Using Constrained Work Stealing

    Energy Technology Data Exchange (ETDEWEB)

    Lifflander, Jonathan; Krishnamoorthy, Sriram; Kale, Laxmikant


    We present an approach to improving data locality across different phases of fork/join programs scheduled using work stealing. The approach consists of: (1) user-specified and automated approaches to constructing a steal tree, the schedule of steal operations and (2) constrained work stealing algorithms that constrain the actions of the scheduler to mirror a given steal tree. These are combined to construct work stealing schedules that maximize data locality across computation phases while ensuring load balance within each phase. These algorithms are also used to demonstrate dynamic coarsening, an optimization to improve spatial locality and sequential overheads by combining many finer-grained tasks into coarser tasks while ensuring sufficient concurrency for locality-optimized load balance. Implementation and evaluation in Cilk demonstrate performance improvements of up to 2.5x on 80 cores. We also demonstrate that dynamic coarsening can combine the performance benefits of coarse task specification with the adaptability of finer tasks.

  18. Effectiveness of a Standard Parenting-Skills Program in Reducing Stealing and Lying in Two Boys. (United States)

    Venning, Helen B.; Blampied, Neville M.; France, Karyn G.


    Examines the effectiveness of a standard parent-training program in reducing stealing and lying in two boys, and measures changes in their mothers' adjustment and perceptions of child and family functioning. Parent suspicions of stealing and lying by their sons decreased during the intervention and were absent at a 10-week follow-up. (Contains 30…

  19. Steal phenomenon through the anterior communicating artery in Moyamoya disease

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Soo Mee [Ewha Womans University, Department of Radiology, Mok-dong Hospital, College of Medicine, Seoul (Korea); Chae, Eun Jin; Kim, Min Yeong; Kim, Sang Joon; Choi, Choong Gon; Pyun, Hae Wook; Suh, Dae Chul [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea); Kim, Jae Kyun [Seoul Veterans Hospital, Department of Radiology, Seoul (Korea); Ahn, Jae Sung; Ra, Young-Shin [University of Ulsan, Asan Medical Center, Department of Neurosurgery, College of Medicine, Seoul (Korea); Kim, Jong-Uk; Hahm, Kyung Don [University of Ulsan, Asan Medical Center, Department of Anesthesiology, College of Medicine, Seoul (Korea)


    Branch occlusion of the anterior cerebral artery (ACA) is regarded as a part of Moyamoya disease. The purpose of this study is to define the ACA steal phenomenon (SP) in Moyamoya disease and to evaluate temporal changes according to the disease progression. From 139 Moyamoya patients we defined ACASP as narrowing of the ipsilateral A1-2 junction while preserving the anterior communicating artery and supplying the contralateral ACA cortical branches with the development of leptomeningeal collaterals by the ipsilateral middle cerebral artery into the hypoperfused ipsilateral ACA territory. Direction of the steal related to the stage in both hemispheres by Suzuki classification was statistically analyzed using the binomial test based on binomial distribution. Follow-ups of ACASP were evaluated in five patients. We identified ACASP in 13 (9%) patients (male:female=7:6, mean age 18 years, range: 2-58 years) of the 139 study patients. The presenting pattern was ischemic in 12 and hemorrhagic in one. The direction of SP occurred from the hemisphere in the lower to the higher stage of Suzuki classification (two-tail P value=0.0002). After revascularization surgery, ACASP disappeared or diminished. ACASP may occur in bilaterally different stages of Moyamoya disease as a transient self-adaptive process. It regresses after revascularization surgery. (orig.)

  20. 肝移植术后脾动脉盗血综合征治疗选择及安全性评价%Evaluation on outcomes and reliability of treatment options for splenic arterial steal syndrome after orthotopic liver transplantation:A report of 5 patients

    Institute of Scientific and Technical Information of China (English)

    邹卫龙; 张薇; 任秀昀; 曾镕; 陈新国; 沈中阳


    目的:分析肝移植术后脾动脉盗血综合征(SASS)不同时机治疗方式选择的临床效果,评价脾动脉栓塞的疗效及其安全性。方法回顾性分析2004年1月至2013年12月武警总医院191例肝硬化、脾脏增大,术前脾动脉直径/肝动脉直径≥1.5、但术中肝动脉血流≥30 cm/s的肝移植病人SASS发生率及临床表现。根据确诊时机和程度分别采取脾动脉栓塞、肝动脉与脾动脉或腹主动脉重新吻合、脾动脉结扎或脾脏切除,比较4种处理方式的临床效果及安全性。结果17例(8.9%)病人确诊为SASS,绝大多数(16/17,94.1%)发生在术后15 d内。5例急诊行脾动脉栓塞后肝总动脉血流[栓塞前(16.6±3.0)cm/s vs.栓塞后(39.3±7.7)cm/s,P<0.001]立即改善,阻力指数全部恢复到正常水平(0.5~0.8),未观察到相关并发症。12例继发肝动脉血栓形成病人取出血栓或溶栓后行肝动脉与腹主动脉吻合(4例)、脾动脉结扎(3例)或脾切除(5例);其中3例接受再次肝移植;2例因肝功能衰竭死亡。结论 SASS是肝移植术后严重并发症,及时诊断并行脾动脉栓塞是有效的补救措施,具有可靠的疗效和安全性。%Objective To evaluate the clinical outcomes and reliability of treatment options based on diagnostic timing for splenic artery steal syndrome (SASS) in recipients underwent orthotopic liver transplantation (OLT), and to compare splenic artery coil-embolization (SAE) with other options by efficacy and reliability. Methods The incidence and clinical manifestation of SASS in 191 consecutive patients performed OLT between January 2004 and December 2013 in the General Hospital of Chinese People’s Armed Police Force were analyzed retrospectively. Those patients were suffered from liver cirrhosis combined with splenomegaly, with the ratio of pre-OLT splenic artery (SA) diameter to common hepatic artery (SA/CHA) diameter ≥1

  1. The reduction of stealing in second graders using a group contingency. (United States)

    Switzer, E B; Deal, T E; Bailey, J S


    Three clases of second graders served as subjects in this study of the effects of two types of intervention programs upon stealing: (1) an antistealing lecture with no specific contingency implied, and (2) a direct group contingency applied, whereby children were rewarded with (a) extra free time for no thefts, (b) allowed normal free time if stolen items were returned, and (c) punished with lost of free if stolen items were not returned. A multiple-baseline design across the three classes showed the group contingency to be effective in reducing stealing behavior; the anti-stealing lecture was ineffective.

  2. Head Loss As an Explanation of the Steal Phenomenon in Microvascular Surgery


    Ross, Phillip E.; Deleyiannis, Frederic W.-B.


    Vascular steal has been cited to help explain end-organ ischemia after microvascular reconstruction. Attempts to clarify a mechanism of vascular steal have been made by modeling blood circulation after a simple electrical circuit, suggesting that the free flap provides a path of least resistance for blood flow and thereby compromises end-organ perfusion. We present a case of a posterior medial thigh perforator flap for the reconstruction of a diabetic foot ulcer in a patient with a single ves...

  3. Reversed Robin Hood syndrome in acute ischemic stroke patients. (United States)

    Alexandrov, Andrei V; Sharma, Vijay K; Lao, Annabelle Y; Tsivgoulis, Georgios; Malkoff, Marc D; Alexandrov, Anne W


    Recurrent hemodynamic and neurological changes with persisting arterial occlusions may be attributable to cerebral blood flow steal from ischemic to nonaffected brain. Transcranial Doppler monitoring with voluntary breath-holding and serial NIH Stroke Scale (NIHSS) scores were obtained in patients with acute middle cerebral artery or internal carotid artery occlusions. The steal phenomenon was detected as transient, spontaneous, or vasodilatory stimuli-induced velocity reductions in affected arteries at the time of velocity increase in normal vessels. The steal magnitude (%) was calculated as [(MFVm-MFVb)/MFVb]x100, where m=minimum and b=baseline mean flow velocities (MFV) during the 15- to 30-second period of a total 30 second of breath-holding. Six patients had steal phenomenon on transcranial Doppler (53 to 73 years, NIHSS 4 to 15 points). Steal magnitude ranged from -15.0% to -43.2%. All patients also had recurrent neurological worsening (>2 points increase in NIHSS scores) at stable blood pressure. In 3 of 5 patients receiving noninvasive ventilatory correction for snoring/sleep apnea, no further velocity or NIHSS score changes were noted. Our descriptive study suggests possibility to detect and quantify the cerebral steal phenomenon in real-time. If the steal is confirmed as the cause of neurological worsening, reversed Robin Hood syndrome may identify a target group for testing blood pressure augmentation and noninvasive ventilatory correction in stroke patients.

  4. Work stealing for GPU-accelerated parallel programs in a global address space framework: WORK STEALING ON GPU-ACCELERATED SYSTEMS

    Energy Technology Data Exchange (ETDEWEB)

    Arafat, Humayun [Department of Computer Science and Engineering, The Ohio State University, Columbus OH USA; Dinan, James [Mathematics and Computer Science Division, Argonne National Laboratory, Lemont IL USA; Krishnamoorthy, Sriram [Computer Science and Mathematics Division, Pacific Northwest National Laboratory, Richland WA USA; Balaji, Pavan [Mathematics and Computer Science Division, Argonne National Laboratory, Lemont IL USA; Sadayappan, P. [Department of Computer Science and Engineering, The Ohio State University, Columbus OH USA


    Task parallelism is an attractive approach to automatically load balance the computation in a parallel system and adapt to dynamism exhibited by parallel systems. Exploiting task parallelism through work stealing has been extensively studied in shared and distributed-memory contexts. In this paper, we study the design of a system that uses work stealing for dynamic load balancing of task-parallel programs executed on hybrid distributed-memory CPU-graphics processing unit (GPU) systems in a global-address space framework. We take into account the unique nature of the accelerator model employed by GPUs, the significant performance difference between GPU and CPU execution as a function of problem size, and the distinct CPU and GPU memory domains. We consider various alternatives in designing a distributed work stealing algorithm for CPU-GPU systems, while taking into account the impact of task distribution and data movement overheads. These strategies are evaluated using microbenchmarks that capture various execution configurations as well as the state-of-the-art CCSD(T) application module from the computational chemistry domain.

  5. Complete occlusion of the proximal subclavian artery post-CABG: Presentation and treatment (United States)

    Sadek, Mouhannad M; Ravindran, Aravindhan; Marcuzzi, Daniel W; Chisholm, Robert J


    Atherosclerotic disease of the proximal left subclavian artery is an uncommon cause of angina in the post-coronary artery bypass graft patient, and is termed coronary-subclavian steal syndrome. Typical manifestations include cardiac symptoms of angina and noncardiac symptoms of lightheadedness, left arm numbness or weakness, and a difference in blood pressure of more than 20 mmHg between both arms. A case of complete proximal occlusion of the subclavian artery is reported. The clinical picture, investigations and treatment are described. Historical treatments of occlusive disease include surgical bypass graft and, more recently, percutaneous transluminal angioplasty. The patient underwent percutaneous transluminal angioplasty with stenting by a retrograde approach, with an excellent short-term response, but ultimately required a carotid subclavian bypass due to restenosis. PMID:18612504

  6. Demonstration by radionuclide imaging of possible vascular steal from a renal transplant. [I-131, Tc-99

    Energy Technology Data Exchange (ETDEWEB)

    Bloss, R.S.; McConnell, R.W.; McConnell, B.G.; Floyd, M.; Conner, W.T.; Henry, R.G.; Kahan, B.D.


    Radionuclide studies in a renal-transplant patient with congestive heart failure suggested vascular steal from the renal allograft by a contralateral femoral arteriovenous fistula. These reliable, noninvasive diagnostic procedures have potential use in similar settings to evaluate allograft perfusion and function. Correction by removal of the fistula was demonstrated.

  7. A Security Concern in MS-Windows: Stealing User Information From Internet Browsers Using Faked Windows

    Directory of Open Access Journals (Sweden)

    Lior Shamir


    Full Text Available A simple method that might be used by malicious attackers for stealing usernames, passwords, credit card numbers or other valuable small pieces of information is described. Hidden processes running on Windows-based machines might create faked controls and place them on the browser exactly on top of the real controls of web pages such as on-line banking account login pages. Users might then type in their passwords or credit card numbers into the faked controls, allowing the malicious process to capture the data. Since spyware is a large and growing threat to internet users, it is not unlikely that such a technique will be used for stealing valuable information. An example based on Hotmail web-based email service is demonstrated, but this technique might be used for a variety of password-protected web services. The paper also discusses different approach of protection against the described attack.

  8. Effects of a youth substance use prevention program on stealing, fighting, and weapon use. (United States)

    Nieri, Tanya; Apkarian, Jacob; Kulis, Stephen; Marsiglia, Flavio Francisco


    Using a sample of sixth graders in 11 public schools in a large Southwestern city, this longitudinal study examined how a model substance use prevention program, keepin' it REAL, that was implemented in 7th grade, influenced three other problem behaviors (fighting, weapon use, stealing), measured in 8th grade. Using a non-equivalent control group design, we compared 259 students in the intervention to 322 students in a treatment-as-usual condition. At baseline, 37% of the sample reported fighting in the last 30 days; 31% reported stealing in the last 30 days, and 16% reported using a weapon in the last 30 days. Regression analyses adjusted for students nested in schools through multi-level modeling and for missing data through multiple imputation. We found that at posttest the rates of all three behaviors were lower in the intervention group than the control group at posttest: 35 versus 37% got into a fight in the last 30 days; 24 versus 31% stole something in the last 30 days; and 16 versus 25% used a weapon in the last 30 days. The program impact for fighting and stealing was not statistically significant and involved minimal effect sizes. The program impact for weapon use was not statistically significant but had an effect size comparable to that for other problem behavior interventions. Promoting positive development via life skills may be a key to broadening program impact.

  9. 浅析计量装置的反窃电措施%The Measures against Power Stealing of Metering Device

    Institute of Scientific and Technical Information of China (English)



    阐述了窃电的主要方式和类型,探讨了反窃电的方法与措施,指出应加大反窃电宣传力度、建立反窃电常态工作机制。%ABSTRACT:This paper expounds the main ways and types of the power stealing, probes into the methods and measures against the power stealing, and points out that should enhance the propaganda against the power stealing and establish the normal working mechanism against the power stealing.

  10. Dopplersonographic diagnosis of subclavian steal in infants with coarctation of the aorta and interrupted aortic arch. [Comparison with angiocardiographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Deeg, K.H.; Singer, H.


    In two newborns with severe coarctation of the aorta and interrupted aortic arch, subclavian-steal was shown by angiocardiography. In both children pulsed doppler recordings were obtained in the cerebral arteries: Normal forward flow during systole and diastole could be shown in the anterior cerebral arteries, both internal carotid arteries, the basilar artery and the right vertebral artery. In the left vertebral artery in both infants a negative flow indicating backflow from the brain could be shown. Pulsed doppler sonography of the flow in the vertebral arteries is a non invasive method for diagnosis of subclavian steal in infants with coarctation of the aorta and interrupted aortic arch.

  11. Large vascular malformation in a child presenting with vascular steal phenomenon managed with pial synangiosis. (United States)

    Ellis, Michael J; Armstrong, Derek; Dirks, Peter B


    The management of large and giant arteriovenous malformations (AVMs) in patients presenting with nonhemorrhagic neurological deficits secondary to vascular steal phenomenon is challenging and controversial. In many cases, large AVMs cannot be completely excised or cured, leaving patients with residual or partially treated AVMs, the natural history of which is unknown. Additionally, large, diffuse vascular malformations with multiple, small feeders, slow flow, or so-called cerebral proliferative angiopathy represent a related but distinct clinical and angiographic entity that may require a different therapeutic approach than traditional brain AVMs. The current management of children with other conditions of chronic cerebral hypoperfusion, such as moyamoya disease, involves consideration of surgical revascularization to enhance blood flow to the compromised hemisphere. Here, the authors present the case of a young child with a large thalamic vascular malformation who presented with clinical and radiological features of vascular steal and ischemia. In an effort to augment flow to the hypoperfused brain and protect against future ischemia, the authors treated the child with unilateral pial synangiosis. At 12 months, postoperative angiography demonstrated robust neovascularization, and the child has not sustained any further ischemic events. The authors discuss concept of vascular malformation-related hypoperfusion and the utility of indirect revascularization for inoperable vascular malformations presenting with ischemic symptoms.

  12. Postendovascular thoracic aortic repair subclavian steal syndrome revealed by severe headache

    Directory of Open Access Journals (Sweden)

    S. Mhamdi


    We present a case of severe headache occurring after a TEVAR with intentional coverage of the origin of the left SCA. This headache was the only symptom from which the patient complained, and which disappeared immediately after carotid-SCA bypass. Other devastating complications can happen, which gave as a concern about the management of SCA when decision to practice a TEVAR is taken.

  13. Prevalence and risk factors associated with reversed Robin Hood syndrome in acute ischemic stroke. (United States)

    Alexandrov, Andrei V; Nguyen, Huy Thang; Rubiera, Marta; Alexandrov, Anne W; Zhao, Limin; Heliopoulos, Ioannis; Robinson, Alice; Dewolfe, Jennifer; Tsivgoulis, Georgios


    Early deterioration can occur after acute stroke for a variety of reasons. We describe a hemodynamic steal and associated neurological deterioration, the reversed Robin Hood syndrome (RRHS). We aimed to investigate the frequency and factors associated with RRHS. Consecutive patients with acute cerebral ischemia underwent serial National Institutes of Health Stroke Scale and bilateral transcranial Doppler monitoring with breathholding. Steal magnitude (%) was calculated from transient mean flow velocity reduction in the affected arteries at the time of velocity increase in normal vessels. Excessive sleepiness and likelihood of sleep apnea were evaluated by the Epworth Sleepiness Scale and Berlin Questionnaire. Among 153 patients (age, 61+/-14 years; 48% women; 21% transient ischemic attack) admitted within 48 hours from symptom onset, 21 (14%) had steal phenomenon (median steal magnitude, 20%; interquartile range, 11%; range, 6% to 45%), and 11 (7%) had RRHS. RRHS was most frequent in patients with proximal arterial occlusions (17% versus 1%; P<0.001). The following factors were independently (P<0.05) associated with RRHS (multivariate logistic regression model): male gender, younger age, persisting arterial occlusions, and excessive sleepiness (P<0.001). A 1-point increase in the Epworth Sleepiness Scale was independently related to an increased likelihood of RRHS of 36% (95% CI, 7% to 73%). RRHS and hemodynamic steal can be found in 7% and 14%, respectively, of consecutive patients with stroke without other known causes for deterioration. Patients with persisting arterial occlusions and excessive sleepiness can be particularly vulnerable to the steal.

  14. Ischemia induced by coronary steal through a patent mammary artery side branch: a role for embolization. (United States)

    Moreno, Nuno; da Silva Castro, Alexandra; Pereira, Adriana; Silva, João Carlos; Almeida, Pedro Bernardo; Andrade, Aurora; Maciel, Maria Júlia; Pinto, Paula


    Non-occlusion of the internal mammary artery side branches may cause ischemia due to flow diversion after coronary artery bypass grafting. The authors present the case of a 67-year-old man with recurrent angina after undergoing myocardial revascularization with a left internal mammary artery to left anterior descending bypass. He presented with impaired anterior wall myocardial perfusion in the setting of a patent left internal mammary artery side branch. Effective percutaneous treatment was carried out through coil embolization, with improved flow and clinical symptoms, confirmed through ischemia testing. Coronary steal through a patent mammary artery side branch is a controversial phenomenon and this type of intervention should be considered only in carefully selected patients.

  15. The vascular steal phenomenon is an incomplete contributor to negative cerebrovascular reactivity in patients with symptomatic intracranial stenosis. (United States)

    Arteaga, Daniel F; Strother, Megan K; Faraco, Carlos C; Jordan, Lori C; Ladner, Travis R; Dethrage, Lindsey M; Singer, Robert J; Mocco, J; Clemmons, Paul F; Ayad, Michael J; Donahue, Manus J


    'Vascular steal' has been proposed as a compensatory mechanism in hemodynamically compromised ischemic parenchyma. Here, independent measures of cerebral blood flow (CBF) and blood oxygenation level-dependent (BOLD) magnetic resonance imaging (MRI) responses to a vascular stimulus in patients with ischemic cerebrovascular disease are recorded. Symptomatic intracranial stenosis patients (n=40) underwent a multimodal 3.0T MRI protocol including structural (T1-weighted and T2-weighted fluid-attenuated inversion recovery) and hemodynamic (BOLD and CBF-weighted arterial spin labeling) functional MRI during room air and hypercarbic gas administration. CBF changes in regions demonstrating negative BOLD reactivity were recorded, as well as clinical correlates including symptomatic hemisphere by infarct and lateralizing symptoms. Fifteen out of forty participants exhibited negative BOLD reactivity. Of these, a positive relationship was found between BOLD and CBF reactivity in unaffected (stenosis degree<50%) cortex. In negative BOLD cerebrovascular reactivity regions, three patients exhibited significant (P<0.01) reductions in CBF consistent with vascular steal; six exhibited increases in CBF; and the remaining exhibited no statistical change in CBF. Secondary findings were that negative BOLD reactivity correlated with symptomatic hemisphere by lateralizing clinical symptoms and prior infarcts(s). These data support the conclusion that negative hypercarbia-induced BOLD responses, frequently assigned to vascular steal, are heterogeneous in origin with possible contributions from autoregulation and/or metabolism.

  16. Models of kleptoparasitism on networks: the effect of population structure on food stealing behaviour. (United States)

    Hadjichrysanthou, Christoforos; Broom, Mark; Rychtář, Jan


    The behaviour of populations consisting of animals that interact with each other for their survival and reproduction is usually investigated assuming homogeneity amongst the animals. However, real populations are non-homogeneous. We focus on an established model of kleptoparasitism and investigate whether and how much population heterogeneities can affect the behaviour of kleptoparasitic populations. We consider a situation where animals can either discover food items by themselves or attempt to steal the food already discovered by other animals through aggressive interactions. Representing the likely interactions between animals by a network, we develop pairwise and individual-based models to describe heterogeneities in both the population structure and other individual characteristics, including searching and fighting abilities. For each of the models developed we derive analytic solutions at the steady state. The high accuracy of the solutions is shown in various examples of populations with different degrees of heterogeneity. We observe that highly heterogeneous structures can significantly affect the food intake rate and therefore the fitness of animals. In particular, the more highly connected animals engage in more conflicts, and have a reduced food consumption rate compared to poorly connected animals. Further, for equivalent average level of connectedness, the average consumption rate of a population with heterogeneous structure can be higher.

  17. A work stealing based approach for enabling scalable optimal sequence homology detection

    Energy Technology Data Exchange (ETDEWEB)

    Daily, Jeffrey A. [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Kalyanaraman, Anantharaman [Washington State Univ., Pullman, WA (United States); Krishnamoorthy, Sriram [Pacific Northwest National Lab. (PNNL), Richland, WA (United States); Vishnu, Abhinav [Pacific Northwest National Lab. (PNNL), Richland, WA (United States)


    Sequence homology detection is central to a number of bioinformatics applications including genome sequencing and protein family characterization. Given millions of sequences, the goal is to identify all pairs of sequences that are highly similar (or “homologous”) on the basis of alignment criteria. While there are optimal alignment algorithms to compute pairwise homology, their deployment for large-scale is currently not feasible; instead, heuristic methods are used at the expense of quality. Here, we present the design and evaluation of a parallel implementation for conducting optimal homology detection on distributed memory supercomputers. Our approach uses a combination of techniques from asynchronous load balancing (viz. work stealing, dynamic task counters), data replication, and exact-matching filters to achieve homology detection at scale. Results for 2.56M sequences on up to 8K cores show parallel efficiencies of ~ 75-100%, a time-to-solution of 33s, and a rate of ~ 2.0M alignments per second.

  18. Memantine reduces stealing behavior and impulsivity in kleptomania: a pilot study. (United States)

    Grant, Jon E; Odlaug, Brian L; Schreiber, Liana R N; Chamberlain, Samuel R; Won Kim, Suck


    Kleptomania is characterized by repetitive stealing behavior and has been associated with deleterious unwanted outcomes including forensic contact and increased rates of suicidal behavior. Very few trials have been conducted to investigate pharmacological treatment options for this neglected condition. Memantine is an NMDA-receptor antagonist that has shown promising results in the treatment of other behavioral addictions and substance addictions. Twelve individuals with kleptomania received memantine (10 mg/day, titrated to 30 mg/day maximum depending on clinical response and tolerability) over the course of 8 weeks, in an open-label trial. The effects of treatment were quantified using well-validated measures and select neurocognitive tests (last observation carried forward analyses). Kleptomania disease severity scores decreased across all measures considered, and 11 (91.7%) of the participants met the responder criteria (35% improvement on the primary effectiveness measure plus CGI improved/very much improved; significant improvements were also observed in terms of mood, anxiety, and disability scores along with a significant improvement in stop-signal response inhibition. Memantine was generally well tolerated. This study shows the effectiveness of memantine in reducing urges to shoplift and shoplifting behavior along with improving impulsivity, mood, anxiety, and psychosocial functioning.

  19. Cheating the Locals: Invasive Mussels Steal and Benefit from the Cooling Effect of Indigenous Mussels (United States)

    Lathlean, Justin A.; Seuront, Laurent; McQuaid, Christopher D.; Ng, Terence P. T.; Zardi, Gerardo I.; Nicastro, Katy R.


    The indigenous South African mussel Perna perna gapes during periods of aerial exposure to maintain aerobic respiration. This behaviour has no effect on the body temperatures of isolated individuals, but when surrounded by conspecifics, beneficial cooling effects of gaping emerge. It is uncertain, however, whether the presence of the invasive mussel Mytilus galloprovincialis limits the ability of P. perna for collective thermoregulation. We investigated whether varying densities of P. perna and M. galloprovincialis influences the thermal properties of both natural and artificial mussel beds during periods of emersion. Using infrared thermography, body temperatures of P. perna within mixed artificial beds were shown to increase faster and reach higher temperatures than individuals in conspecific beds, indicating that the presence of M. galloprovincialis limits the group cooling effects of gaping. In contrast, body temperatures of M. galloprovincialis within mixed artificial mussel beds increased slower and exhibited lower temperatures than for individuals in beds comprised entirely of M. galloprovincialis. Interestingly, differences in bed temperatures and heating rates were largely dependent on the size of mussels, with beds comprised of larger individuals experiencing less thermal stress irrespective of species composition. The small-scale patterns of thermal stress detected within manipulated beds were not observed within naturally occurring mixed mussel beds. We propose that small-scale differences in topography, size-structure, mussel bed size and the presence of organisms encrusting the mussel shells mask the effects of gaping behaviour within natural mussel beds. Nevertheless, the results from our manipulative experiment indicate that the invasive species M. galloprovincialis steals thermal properties as well as resources from the indigenous mussel P. perna. This may have significant implications for predicting how the co-existence of these two species may

  20. Cheating the Locals: Invasive Mussels Steal and Benefit from the Cooling Effect of Indigenous Mussels.

    Directory of Open Access Journals (Sweden)

    Justin A Lathlean

    Full Text Available The indigenous South African mussel Perna perna gapes during periods of aerial exposure to maintain aerobic respiration. This behaviour has no effect on the body temperatures of isolated individuals, but when surrounded by conspecifics, beneficial cooling effects of gaping emerge. It is uncertain, however, whether the presence of the invasive mussel Mytilus galloprovincialis limits the ability of P. perna for collective thermoregulation. We investigated whether varying densities of P. perna and M. galloprovincialis influences the thermal properties of both natural and artificial mussel beds during periods of emersion. Using infrared thermography, body temperatures of P. perna within mixed artificial beds were shown to increase faster and reach higher temperatures than individuals in conspecific beds, indicating that the presence of M. galloprovincialis limits the group cooling effects of gaping. In contrast, body temperatures of M. galloprovincialis within mixed artificial mussel beds increased slower and exhibited lower temperatures than for individuals in beds comprised entirely of M. galloprovincialis. Interestingly, differences in bed temperatures and heating rates were largely dependent on the size of mussels, with beds comprised of larger individuals experiencing less thermal stress irrespective of species composition. The small-scale patterns of thermal stress detected within manipulated beds were not observed within naturally occurring mixed mussel beds. We propose that small-scale differences in topography, size-structure, mussel bed size and the presence of organisms encrusting the mussel shells mask the effects of gaping behaviour within natural mussel beds. Nevertheless, the results from our manipulative experiment indicate that the invasive species M. galloprovincialis steals thermal properties as well as resources from the indigenous mussel P. perna. This may have significant implications for predicting how the co-existence of

  1. Concepção de roubo em pré-escolares Kindergarten childrens' conception of stealing

    Directory of Open Access Journals (Sweden)

    Raul Aragão Martins


    Full Text Available Partindo do trabalho pioneiro de J. Piaget, O julgamento moral da criança, revisamos as contribuições para este estudo sobre a concepção de roubo em crianças. Usando uma história que envolve um pequeno roubo examinamos como pré-escolares respondem a questões sobre o roubo ser certo ou errado, o porquê dessa resposta, assim como avaliamos a percepção da criança à presença, à contingência e à relatividade de regras. Tendo como sujeitos 80 crianças de duas pré-escolas, uma pública e outra particular, cada escola dividida em duas turmas, encontramos que todas as crianças têm noção da regra de o roubo ser errado e ao justificarem essa resposta apresentam cinco tipos de argumentos, assim como já apresentam julgamentos em função da intenção. Resultados são discutidos em termos da teoria de desenvolvimento moral de Piaget.From the pioneering work of J. Piaget "The moral judgment of the child" we have reviewed the contributions to this study of childrens' conception of stealing . Using a story about a minor theft, we examined how kindergarten children answer questions about the right and wrong of stealing and now they justified their answers. In addition we examined childrens' perception of the existence, contingence and relativity of rules. We examined 80 children from a public and a private school, each divided in two groups. The results have shown that children have a notion of stealing as a wrong act and to justify these answers they show five patterns of justifications, as well as judgment of intentionality. Results were discussed in terms of Piaget's moral development theory.

  2. Steal phenomenon in the lower limb: presentation of a case with osseous metastases secondary to renal cell carcinoma and review of the literature (United States)

    Asha, Mohammed; Ibrahim, Husam; Eisawi, Abdalla Khidir; Orme, Richard; Houghton, Andrew


    Renal cell carcinoma is reported to have potent angiogenic activity with a high microvascular density in both primary and metastatic sites compared with other adenocarcinomas. Angiogenesis can lead to the formation of abnormal arteriovenous shunts that can, in patients with peripheral vascular disease, result in worsening of the degree of ischaemia by producing a vascular steal-like phenomena. Nevertheless, steal phenomena secondary to malignancies are extremely rare. We report a case of distal critical limb ischaemia in a patient with peripheral vascular disease exacerbated by massive arteriovenous shunting due to tibial metastases from renal cell carcinoma. PMID:21686724

  3. Imagine Something Different: How a Group Approach to Scholarly Faculty Development Can Turn Joy-Stealing Competition Into Scholarly Productivity. (United States)

    Heinrich, Kathleen T

    As academic institutions across the country raise the scholarly bar for retention, promotion, and tenure, academic leaders are being asked to scholar-ready nursing faculty. With the retirement of senior scholars and too few scholar-mentors to go around, leaders often find themselves squeezed between scholarly expectations on the rise and faculty groups less than ready to meet those expectations. Today's nursing faculty present a formidable scholarly development challenge. A diverse mix of master's-prepared clinicians and recent graduates from doctor of philosophy and doctor of nursing practice programs, they come with a broad range of scholarly learning needs. These inequities not only leave many faculty feeling like scholar-impostors but also they can breed competitions that erode collegial bonds and sow the seeds of incivilities that steal scholarly joy, slow scholarly progress, and stress academic workplaces. What if leaders began imagining something different for themselves and with faculty groups? This is what can happen when leaders expand their perspective on scholarly faculty development from individual challenge to collective responsibility. More essay than research paper, this article describes how scholarly joy-stealing patterns can infiltrate faculty groups, shares thought leaders' visions for supportive scholarly communities, and offers strategies leaders can use to invite faculty groups to co-create cultures of scholarly caring. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Evaluation of the "steal" phenomenon on the efficacy of hypoxia activated prodrug TH-302 in pancreatic cancer.

    Directory of Open Access Journals (Sweden)

    Kate M Bailey

    Full Text Available Pancreatic ductal adenocarcinomas are desmoplastic and hypoxic, both of which are associated with poor prognosis. Hypoxia-activated prodrugs (HAPs are specifically activated in hypoxic environments to release cytotoxic or cytostatic effectors. TH-302 is a HAP that is currently being evaluated in a Phase III clinical trial in pancreatic cancer. Using animal models, we show that tumor hypoxia can be exacerbated using a vasodilator, hydralazine, improving TH-302 efficacy. Hydralazine reduces tumor blood flow through the "steal" phenomenon, in which atonal immature tumor vasculature fails to dilate in coordination with normal vasculature. We show that MIA PaCa-2 tumors exhibit a "steal" effect in response to hydralazine, resulting in decreased tumor blood flow and subsequent tumor pH reduction. The effect is not observed in SU.86.86 tumors with mature tumor vasculature, as measured by CD31 and smooth muscle actin (SMA immunohistochemistry staining. Combination therapy of hydralazine and TH-302 resulted in a reduction in MIA PaCa-2 tumor volume growth after 18 days of treatment. These studies support a combination mechanism of action for TH-302 with a vasodilator that transiently increases tumor hypoxia.

  5. The Means of Stealing Electricity and Preventive Measures%浅谈窃电方法及防范措施

    Institute of Scientific and Technical Information of China (English)



    The behavior of stealing electricity is not only seriously infringed upon the legitimate interests of power supply enterprises,but also against the rights and interests of the electrical users in the very great degree.It will not only result in huge loss of state-owned property,and seriously disturb the order of power supply.Therefore,the problem of stealing electricity is increasingly valued by the power supply enterprise,how to effectively prevent theft have been became the important factor to guarantee the safe and stable operation of power grid.%  窃电行为不但严重侵害了供电企业的合法利益,而且在很大程度上也侵害了守法用户的权益。它不仅会造成国有资产巨大流失,而且会严重扰乱供用电秩序。因此,窃电问题越来越被供电企业所重视,如何有效的防治窃电成为保障电网安全稳定运行的重要因素。

  6. Vascular Steal Explains Early Paradoxical Blood Oxygen Level-Dependent Cerebrovascular Response in Brain Regions with Delayed Arterial Transit Times

    Directory of Open Access Journals (Sweden)

    Julien Poublanc


    Full Text Available Introduction: Blood oxygen level-dependent (BOLD magnetic resonance imaging (MRI during manipulation of inhaled carbon dioxide (CO2 can be used to measure cerebrovascular reactivity (CVR and map regions of exhausted cerebrovascular reserve. These regions exhibit a reduced or negative BOLD response to inhaled CO2. In this study, we sought to clarify the mechanism behind the negative BOLD response by investigating its time delay (TD. Dynamic susceptibility contrast (DSC MRI with the injection of a contrast agent was used as the gold standard in order to provide measurement of the blood arrival time to which CVR TD could be compared. We hypothesize that if negative BOLD responses are the result of a steal phenomenon, they should be synchronized with positive BOLD responses from healthy brain tissue, even though the blood arrival time would be delayed. Methods: On a 3-tesla MRI system, BOLD CVR and DSC images were collected in a group of 19 patients with steno-occlusive cerebrovascular disease. For each patient, we generated a CVR magnitude map by regressing the BOLD signal with the end-tidal partial pressure of CO2 (PETCO2, and a CVR TD map by extracting the time of maximum cross-correlation between the BOLD signal and PETCO2. In addition, a blood arrival time map was generated by fitting the DSC signal with a gamma variate function. ROI masks corresponding to varying degrees of reactivity were constructed. Within these masks, the mean CVR magnitude, CVR TD and DSC blood arrival time were extracted and averaged over the 19 patients. CVR magnitude and CVR TD were then plotted against DSC blood arrival time. Results: The results show that CVR magnitude is highly correlated to DSC blood arrival time. As expected, the most compromised tissues with the longest blood arrival time have the lowest (most negative CVR magnitude. However, CVR TD shows a noncontinuous relationship with DSC blood arrival time. CVR TD is well correlated to DSC blood arrival time

  7. Coronary steal due to ruptured right coronary aneurysm causing myocardial infarction in a patient with systemic lupus erythematosus. (United States)

    Hirata, Kazuhito; Yagi, Nobuhito; Wake, Minoru; Takahashi, Takanori; Nakazato, Jun; Miyagi, Tadayoshi; Shimotakahara, Junichi


    A 34-year-old female with a history of systemic lupus erythematosus (SLE) developed an acute inferior myocardial infarction while hospitalized for methicillin-resistant Staphylococcus Aureus sepsis. An emergent coronary angiography revealed an ectatic proximal left coronary artery and a huge aneurysm (37 mm × 32 mm) in the mid-portion of the right coronary artery, which had ruptured into the right atrium. A "steal phenomenon" due to significant left to right shunt resulting from the ruptured aneurysm was the cause of the myocardial infarction. Infection of the wall of the aneurysm might have contributed to the growth and the rupture in the presence of a pre-existing coronary aneurysm.

  8. Portal venous perfusion steal causing graft dysfunction after orthotopic liver transplantation: serial imaging findings in a successfully treated patient

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Min Su; Chung, Yong Eun; Choi, Jin Young; Park, Mi Suk; Lim, Joon Seok; Kim, Myeong Jin; Kim, Hon Soul [Dept. of Radiology, Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of); Kim, Sang Kyun [Dept. of Pathology, Yonsei University College of Medicine, Seoul (Korea, Republic of)


    A 53-year-old male with hepatocellular carcinoma underwent orthotopic liver transplantation. Preoperative computed tomography revealed main portal vein luminal narrowing by flat thrombi and the development of cavernous transformation. On post-transplantation day 1, thrombotic portal venous occlusion occurred, and emergency thrombectomy was performed. Subsequent Doppler ultrasonography and contrast-enhanced ultrasonography confirmed the restoration of normal portal venous flow. The next day, however, decreased portal venous velocity was observed via Doppler ultrasonography, and serum liver enzymes and bilirubin levels remained persistently elevated. Direct portography identified massive perfusion steal through prominent splenorenal collateral veins. Stent insertion and balloon angioplasty of the portal vein were performed, and subsequent Doppler ultrasonography demonstrated normalized portal flow parameters. Afterwards, the serum liver enzymes and bilirubin levels rapidly normalized.

  9. 再谈王维“窃”李嘉佑诗%A Second Talk on Wang Wei "Stealing" the Poem of Li Jiayou

    Institute of Scientific and Technical Information of China (English)



    Wang Wei "stealing" the poem of Li Jiayou has been an issue deserving the continuous study of later generations .Four main viewpoints have been formed in the long-term discussion since Tang Dynasty :Wang Wei "stealing"the poem of Li Jiayou ,Wang Wei not "stealing"the poem of Li Jiayou ,Li Jiayou "stealing"the poem of Wang Wei ,and Wang Li creating the poem separately .To judge the above view-points ,we have to make three questions clear :first of all ,the birth years of Wang Wei and Li Jiayou ;sec-ondly ,w hen Wang Wei created Snow in Wangchuan Village ;and lastly ,is it possible for Li Youjia to cre-ate such a poem .After the above analysis ,the article draws a conclusion that Wang Wei did not "steal"the poem of Li Jiayou .%王维“窃”李嘉佑诗,是唐人留给后人一个值得不断研究的问题。自唐以来,对它的讨论从未停止,在长期的讨论中形成了四种主要观点:王维“窃”李嘉佑诗;王维非“窃”李嘉佑诗;李嘉佑“窃”王维诗;王李各有此句诗。要判断以上观点,就需要研究清楚三个问题:其一、王维、李嘉佑生年问题;其二、王维创作《积雨辋川庄》的时间问题;其三、李嘉佑有没有可能创作出这样的诗句。并可借以认定,王维非“窃”李嘉佑诗。

  10. 鲧窃息壤神话考%The Textual Research on the Myth of Gun Stealing the Magical Soil

    Institute of Scientific and Technical Information of China (English)



    鲧窃息壤神话中“息壤”与“帝”的所指并不清楚,而对“鲧復生禹”的解释也莫衷一是。实际上,羿、尧、舜、禹等人物属于太阳神系列,嫦娥、女娲、娥皇、女英等则属于月神系列,而鲧、共工、蓬蒙、吴刚属于雷神系列。日神、月神、雷神三方的关系以日神和雷神的矛盾为主线,以月神与雷神的关系为辅线。月神系列不仅具有人格化的特点,还有物化的特点,表现为息壤、不死药、砍了又复原的桂树等。吴刚伐桂神话有可能是鲧窃息壤故事的变异,息壤、不死药、可复原的桂树等事项都来自古人对月亮盈亏圆缺的印象。“鲧復生禹”是“鲧覆生禹”的语言讹误,其原型是雨后日出,鲧演化为禹父导致了原来作为雷雨之神的鲧变成了布土治水之人。%The meanings of the term“Xirang(the magical soil)”and the term“Di”in the myth of Gun stealing Xirang are not clear yet. Scholars' opinions also vary on how to interpret the story“Gun Fu Sheng Yu”. Yi, Yao, Shun and Yu are the gods of the sun, while Chang’e, Nvwa, Ehuang and Nvying are the goddesses of the moon. As to Gun, Gonggong, Fengmeng and Wugang, they are the gods of thunder. In the stories about the sun gods, moon goddesses and thunder gods, the struggles between the sun gods and the thunder gods are the principal aspects of the relationships among the three types of deities. The entanglements between the moon goddesses and the thunder gods are the secondary aspects of the contradictions. The goddesses of moon, i.e. Xirang, immortality drug and recoverable laurel tree, are not only personified but also objectified. The myth of Wu Gang cutting the laurel is the variation of the myth of Gun stealing Xirang. And the myths about Xirang, immortality drug and recoverable laurel tree might derive from the phases of the moon. The story of Gun Fu Sheng Yu (Gun giving birth to Yu) came from a

  11. 基于离群点算法和用电信息采集系统的反窃电研究%Study on the anti-electricity stealing based on outlier algorithm and the electricity information acquisition system

    Institute of Scientific and Technical Information of China (English)

    程超; 张汉敬; 景志敏; 陈明; 矫磊; 杨立新


    为了解决以往依靠用户每月电量变化、台区线损异常确定窃电嫌疑户等传统方法时效性差、准确率低,现场排查发现窃电行为又效率不高的问题,利用当前远程集抄海量数据为传统反窃电理论研究和高效反窃电的实现尝试探索一种新方法。全面分析窃电手段及原理,绘制实施窃电手段的鱼骨图,由实际案例统计分析确定研究重点为欠压、欠流窃电法。根据高供高计和高供低计用户计量装置接线特点、电压电流值的规律以及离群点理论确定窃电判定算法,并做出基于距离的离群点检测法判定窃电的流程图。通过实例验证提出的算法和窃电户筛选流程能够完全甄别出窃电用户,为监控人员利用用电信息采集系统的海量数据精确及时地进行有效反窃电分析提供了新思路。%In order to solve the problem that traditional methods such as screening the electricity stealing suspect users rely on monthly power consumption change, abnormal line loss is of low efficiency and low accuracy rate; and the field investigation finds that act of electricity stealing is inefficient. This paper explores a new method in traditional anti-electricity stealing theory study and efficient anti-electricity stealing implementation using the massive data of current remote centralized meter reading, analyzes electricity stealing means and principles, draws a fishbone diagram of electricity stealing means, determines this paper’s research emphasis are under-voltage electricity stealing method and under-current electricity stealing method by statistical analysis of actual case. Electricity stealing decision algorithm is determined based on metering device wiring characteristics and voltage/current value law of high voltage power supply high voltage measurement users and high voltage power supply low voltage measurement users, outlier theory, an electricity stealing determining flowchart

  12. 负荷管理系统在电力营销反窃电工作中的应用%On application of load management system in anti-electricity stealing management of power marketing

    Institute of Scientific and Technical Information of China (English)

    周惠民; 杨彩阁; 付红梅


    应用无线电力负荷管理系统进行计量异常监测来进行反窃电,该方法的优势在于既能及时发现线索,又能提供窃电证据,且相关技术成熟,操作起来形象直观、简单易行,为电力营销反窃电工作开辟了一条新途径。%Using Wireless Power Load Management System (WPLM) to have abnormal measure monitoring anti-eleetricity stealing management. The advantage of this method is both timely detecting clues, but also obtain stealing evidence, and related technologies is mature. It is visually simple to operate, which opened up a new way anti-electricity stealing management.

  13. My Child Is Stealing (United States)

    ... around. And there's often little sympathy for repeat offenders. Further punishment , particularly physical punishment, is not necessary and could make a child or teen angry and more likely to engage in even ...

  14. Stealing inside after Dark. (United States)

    van Herk, Aritha


    Drawing on works of literary theory and postmodern fiction, discusses the relationship between reader, writer, and text. Examines the boundaries and frontiers that writers patrol and readers inhabit as they live out their personal lives with texts. (DMM)

  15. Ligation of huge spontaneous porto-systemic collaterals to avoid portal inflow steal in adult living donor liver transplantation: A case-report. (United States)

    Elshobary, Mohamed; Shehta, Ahmed; Salah, Tarek; Sultan, Ahmed Mohamed; Shiha, Usama; Elghawalby, Ahmed Nabieh; Monier, Ahmed; Elsadany, Mohamed; AmrYassen; Fathy, Omar; Wahab, Mohamed Abdel


    In adult living donor liver transplantation (LDLT), maintenance of adequate portal inflow is essential for the graft regeneration. Portal inflow steal (PFS) may occur due to presence of huge spontaneous porto-systemic collaterals. A surgical procedure to increase the portal inflow is rarely necessary in adult LDLT. A 52 years male patient with end-stage liver disease due to chronic hepatitis C virus infection. Preoperative portography showed marked attenuated portal vein and its two main branches, patent tortuous splenic vein, multiple splenic hilar collaterals, and large lieno-renal collateral. He received a right hemi-liver graft from his nephew. Exploration revealed markedly cirrhotic liver, moderate splenomegaly with multiple collaterals and large lieno-renal collateral. Upon dissection of the hepato-duodenal ligament, a well-developed portal vein could be identified with a small mural thrombus. The recipient portal vein stump was anastomosed, in end to end fashion, to the graft portal vein. Doppler US showed reduced portal vein flow, so ligation of the huge lieno-renal collateral that allows steal of the portal inflow. After ligation of the lieno-renal collateral, improvement of the portal vein flow was observed in Doppler US. There is no accepted algorithm for managing spontaneous lieno-renal shunts before, during, or after liver transplantation, and evidence for efficacy of treatments remains limited. We report a case of surgical interruption of spontaneous huge porto-systemic collateral to prevent PFS during adult LDLT. Complete interruption of large collateral vessels might be needed as a part of adult LDLT procedure to avoid devastating postoperative PFS. Copyright © 2016. Published by Elsevier Ltd.

  16. Scheie syndrome (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  17. Stealing and Leakage Monitoring System for Sensitive File in RingO Layer%Ring0层敏感文件窃泄密监测系统

    Institute of Scientific and Technical Information of China (English)

    王晓箴; 严坚; 吴焕; 刘宝旭


    为使敏感文件免遭窃泄密攻击的威胁,设计并实现一个基于Ring0层的主机型敏感文件窃泄密监测系统,通过敏感文件查找、文件异常行为监测等功能,对敏感文件进行实时监测和保护.该系统已应用于实际工作中,取得了良好效果.%To keep the sensitive file away from the thread of stealing and leakage, this paper designs and implements a stealing and leakage monitor system based on Ring0 privileged code. The system can monitor and protect confidential files promptly by using the components of file searching and unordinary action monitoring. The system's performance is satisfying in practice.

  18. Spinal-cord syndrome due to non-compressive Paget's disease of bone: a spinal-artery steal phenomenon reversible with calcitonin. (United States)

    Herzberg, L; Bayliss, E


    A 76-year-old man had progressive low back pain, leg weakness, and sensory loss. Radiology showed changes consistent with wide-spread Paget's disease, but no cord compression or involvement of nerve roots was detected by myelography or computerised axial tomography. His symptoms were relieved within 12 days of starting 100 MRC units of subcutaneous salmon calcitonin and recurred when calcitonin was discontinued for 5 days. The improvement continued on calcitonin treatment for 1 year, with falls in serum alkaline phosphatase and urinary hydroxyproline excretion. It is suggested that calcitonin treatment, in reducing the abnormally high metabolic activity of the diseased bone, and hence its vascular perfusion, allows more blood to reach the spinal cord.

  19. Dumping Syndrome (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  20. Cushing syndrome (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... exogenous Cushing syndrome . Prednisone, dexamethasone, and ...

  1. Serotonin syndrome (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  2. Gardner Syndrome (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  3. Siderophores: More than Stealing Iron

    Directory of Open Access Journals (Sweden)

    Judith Behnsen


    Full Text Available Siderophores are small molecular iron chelators that are produced by microbes and whose most notable function is to sequester iron from the host and provide this essential metal nutrient to microbes. Recent studies have proposed additional, noncanonical roles for siderophores, including the acquisition of noniron metals and modulation of host functions. Recently, Holden et al. (V. I. Holden, P. Breen, S. Houle, C. M. Dozois, and M. A. Bachman, mBio 7:e01397-16, 2016, showed that siderophores secreted by Klebsiella pneumoniae during lung infection induce stabilization of the transcription factor HIF-1α, increase the expression of proinflammatory cytokines in the lung, and promote dissemination of K. pneumoniae to the spleen. Thus, their study demonstrated novel roles for siderophores in vivo, beyond iron sequestration. The interaction of siderophores with host cells further promotes the pathogenicity of K. pneumoniae and is likely relevant for other pathogens that also secrete siderophores in the host.

  4. 日本窃取钓鱼岛的图谋及我国应对策略%Japan's Plot of Stealing the Diaoyu Islands and China's Strategy

    Institute of Scientific and Technical Information of China (English)

    冯丹; 周山丹; 胡利明


      There is extensive oil and natural gas resources in the Diaoyu Islands,and the strategic location of Diaoyu Islands is also very important. The Japanese government tries to grab Chinese Diaoyu Islands through various means in recent years, from Japanese Tokyo Governor manufacturing "buying" of Diaoyu Islands to the Japanese government spending 2.05 billion yen completed the Diaoyu Islands "nationalization", from the Japanese right-wingers "landed on the islands to comfort the souls" to the US-Japan joint military exercises and the strengthening of diplomatic relations,Japan attempts to steal the Diaoyu Islands from the "actual control" to "actual occupation", and change "illegal con-trol" into the "lawful possession". The United States continued to increase its military presence in the Pacific, and tried to apply USA-Japan Mutual Defense Treaty to support Japan in the issue of the Diaoyu Islands,which makes the area an increasingly complex situation. China's Diaoyu Islands sovereignty and territorial integrity is facing a severe threat. Therefore, it is very significant to explore an effective way to solve the Diaoyu Islands dispute to defend the sovereignty of China's maritime territory.%  钓鱼岛拥着丰富的石油、天然气资源和重要的战略位置,日本政府为了改变其能源不足的现状和牵制中国的发展,今年动作不断,从日本东京都知事石原慎太郎制造“购买”钓鱼岛闹剧到日本政府花20.5亿日元完成钓鱼岛“国有化”、从日本右翼分子登岛“慰灵”到美日在联合军演、外交拉拢,日本图谋完成将钓鱼岛从“实际控制”到“实际占领”的转变,变“非法控制”为“合法占有”.美国近两年逐渐战略东移,不断加大在太平洋地区的军事存在,并提出《美日共同防御条约》适用于钓鱼岛偏袒日本,使得这一地区形势日益复杂化.我国钓鱼岛主权和领土完整正面临严峻威胁.因此,

  5. Metabolic Syndrome (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  6. Marfan Syndrome (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  7. Williams syndrome (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  8. Fahr's Syndrome (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...


    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary


    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  10. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P


    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  11. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M


    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  12. Edwards' syndrome. (United States)

    Crawford, Doreen; Dearmun, Annette


    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  13. Dravet Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  14. Paraneoplastic Syndromes (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  15. Turner Syndrome (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  16. Cushing's Syndrome (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  17. Lynch Syndrome (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. ...

  18. Metabolic Syndrome (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  19. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P


    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  20. Angelman Syndrome (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  1. Apert Syndrome. (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak


    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  2. 员工秘密取回老板拖欠工资行为之定性研究%Qualitative Research on Employees Stealing Arrears of Wage from Their Boss

    Institute of Scientific and Technical Information of China (English)



    The conduct of ZHAO Liu and CHEN Qi in "A Woman,A Gun and A Noodle Shop" mirrored the contemporary social reality.In the context of China's current criminal law,such conduct of employees stealing arrears of wage from their boss constitutes theft in form,which is different from the behavior of stealing their own property.Due to the actual condition of urgent lacking,such conduct doesn't constitute a self-help behavior,and therefore can not be justified.On one hand,the current public remedy can't effectively guarantee the rights of employees,on the other hand,the private remedy the employees have to take is in the plight of violating the criminal law.Article No.13 of the criminal law might help to solve this problem.%电影《三枪拍案惊奇》中赵六陈七秘密取回老板拖欠工资的行为实乃当下社会现实问题的反映。在我国当前刑法语境下,此类员工秘密取回老板拖欠工资的行为不同于窃取本人财物的行为,形式上构成盗窃罪。因为欠缺情况紧迫这一时机条件,该行为不属于自救行为,因而无法得到正当化。在目前公力救济无法切实保障被欠薪劳动者的合法权益,而劳动者无奈采取的私力救济又涉及刑事不法的困境下,刑法第13条但书规定或可为其提供一条出路。

  3. Learning about Down Syndrome (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  4. Velocardiofacial Syndrome (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.


    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  5. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M


    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  6. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat


    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  7. Wallenberg's Syndrome (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  8. Refeeding syndrome. (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J


    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  9. [Metabolic syndrome]. (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi


    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  10. Intelligent metering stealing distance detection and applied research forensics%计量窃电智能化遥距侦测和取证的应用研究

    Institute of Scientific and Technical Information of China (English)



    计量窃电智能化遥距侦测和取证的应用研究综合应用现行营销在线监控的各系统对用户,采用计量自动化遥距侦测并分析窃电行为,同时启动现场摄像机取证。降低了供电企业管理成本,并确保了整个社会和谐发展及电力安全和稳定供应。%The measurement of distance to detect tampering intelligent application of forensics and integrated application which can online monitoring of users by various systems of existing marketing to detect and analyze stealing behavior, and start the live camera evidence. It can reduce the power of enterprise management costs, and ensure the harmonious development and electricity supply security and stability of the whole society.

  11. [Autoinflammatory syndrome]. (United States)

    Ida, Hiroaki; Eguchi, Katsumi


    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  12. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai


    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  13. [Autoinflammatory syndromes]. (United States)

    Lamprecht, P; Gross, W L


    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  14. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl


    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  15. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi


    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  16. Gorlin syndrome. (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R


    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  17. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul


    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  18. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho


    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  19. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep


    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  20. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole


    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causi...

  1. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma


    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  2. Myelodysplastic Syndromes (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  3. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu


    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  4. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat


    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  5. LEOPARD syndrome (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  6. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.


    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  7. Poland syndrome


    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.


    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  8. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma


    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  9. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra


    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  10. CLOVES syndrome. (United States)

    Bloom, Jacob; Upton, Joseph


    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  11. Hubris syndrome. (United States)

    Owen, David


    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.


    Directory of Open Access Journals (Sweden)



    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  13. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H


    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  14. Jerusalem syndrome. (United States)

    Bar-el, Y; Durst, R; Katz, G; Zislin, J; Strauss, Z; Knobler, H Y


    Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation. To describe the Jerusalem syndrome as a unique acute psychotic state. This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives. Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology. The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.

  15. [Autoinflammatory syndromes/fever syndromes]. (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I


    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  16. Marfan syndrome (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  17. Reye Syndrome (United States)

    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... poor blood clotting and bleeding caused by liver failure. What are the symptoms of Reye syndrome? Reye ...

  18. [Refeeding syndrome]. (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena


    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  19. Premenstrual syndrome

    National Research Council Canada - National Science Library

    Kwan, Irene; Onwude, Joseph Loze


    A woman has premenstrual syndrome (PMS) if she complains of recurrent psychological and/or physical symptoms occurring during the luteal phase of the menstrual cycle, and often resolving by the end of menstruation...

  20. Zellweger Syndrome (United States)

    ... done? The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  1. Autoinflammatory syndromes. (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A


    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  2. Piriformis Syndrome (United States)

    ... of sitting for a long period of time, climbing stairs, walking, or running. × Definition Piriformis syndrome is a ... of sitting for a long period of time, climbing stairs, walking, or running. View Full Definition Treatment Generally, ...

  3. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie


    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  4. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil


    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  5. Neurocutaneous Syndromes (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  6. Usher Syndrome (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  7. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;


    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  8. Beals Syndrome (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  9. Isaac's Syndrome (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  10. Noonan syndrome (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  11. Dressler's Syndrome (United States)

    ... syndrome can cause more-serious complications, including: Cardiac tamponade. Inflammation of the pericardium can cause fluids to ... including: Draining excess fluids. If you develop cardiac tamponade, your doctor will likely recommend a procedure (pericardiocentesis) ...

  12. [Mobius syndrome]. (United States)

    Vladuţiu, Cristina; Duma, Ionela


    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  13. Down Syndrome (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  14. Metabolic syndrome (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  15. Eagle's Syndrome


    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de


    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  16. SAPHO syndrome. (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D


    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  17. Carpenter syndrome. (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol


    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  18. Metabolic Syndrome (For Parents) (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  19. Down Syndrome (For Kids) (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  20. Juvenile Polyposis Syndrome (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  1. Cardiac Syndrome X (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  2. Exogenous Cushing syndrome (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  3. What is Metabolic Syndrome? (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  4. Learning about WAGR Syndrome (United States)

    ... used are: WAGR Complex Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Wilms' Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The cause ...

  5. Escobar syndrome mimicing congenital patellar syndrome

    National Research Council Canada - National Science Library

    Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre


    ...) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome...

  6. Study of the relationship between methadone maintenance treatment of anxiety and depression with stealing heroin%美沙酮维持治疗中焦虑抑郁情绪与偷吸海洛因之间的关系研究

    Institute of Scientific and Technical Information of China (English)

    胡列鹏; 王丽萍; 张敏; 渠旭升; 莫兰榕


      Object To explore the relationship between anxiety-depressive mood and methadone maintenance treatment of stealing suck heroin patients. Method To randomize methadone maintenance treatment (MMT) patients the morphine test strip urine test and repeat with six-month,using anxiety-depression self-rating scale (SAS, SDS) for evaluation with psychological intervention and assessment. Result No significant relationship between anxiety-depressive mood and steal heroin.%  目的探讨焦虑抑郁情绪与美沙酮维持治疗患者偷吸海洛因之间的关系。方法随机对美沙酮维持治疗(MMT)患者进行为期6个月重复用吗啡测试条尿检并使用焦虑抑郁自评量表(SAS、SDS)进行测评并配合心理干预并进行评估。结果焦虑抑郁情绪与偷吸海洛因之间无明显关系。

  7. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre


    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  8. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata


    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  9. Compartment syndromes (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.


    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  10. Compartment syndromes (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.


    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  11. Microcephaly syndromes. (United States)

    Abuelo, Dianne


    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  12. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin


    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  13. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria


    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  14. [Serotonin syndrome]. (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M


    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  15. [Autoinflammatory syndromes]. (United States)

    Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta


    Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis.

  16. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci


    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  17. Stealing the Goose: Copyright and Learning

    Directory of Open Access Journals (Sweden)

    Rory McGreal


    Full Text Available The Internet is the world's largest knowledge common and the information source of first resort. Much of this information is open and freely available. However, there are organizations and companies today that are trying to close off the Internet commons and make it proprietary. These are the “copyright controllers.” The preservation of the commons and expanding access to digital content and applications are very important for distance educators. The educational exemptions for “fair use” in the United States and “fair dealing” in the Commonwealth countries are integral to any understanding of copyright, which was instituted for the dissemination of knowledge, and not, as is commonly believed, to protect the rights of the copyright owners. Copyright law was expressly introduced to limit their rights. Yet, these controllers are successfully turning a “copy” right into a property right. The traditional rights of learning institutions are being taken away. The balance for researchers should be restored. Research and learning must be allowed the broad interpretation that was intended in the original laws.

  18. Jackie Steals Home. Learning Page Lesson Plan. (United States)

    Pulda, Arnold

    In this lesson, students draw on their previous studies of American history and culture as they analyze primary sources from "Jackie Robinson and Other Baseball Highlights, 1860s-1960s" in the American Memory collection. A close reading of two documents relating to Jackie Robinson's breaking of the racial barrier in professional baseball…

  19. Stealing Bread and Sleeping Beneath Bridges

    DEFF Research Database (Denmark)

    Thomsen, Frej Klem


    The article analyses the concept of indirect discrimination, arguing first that existing conceptualizations are unsatisfactory and second that it is best understood as equal treatment that is disadvantageous to the discriminatees because of their group membership. I explore four ways of further r...

  20. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves


    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  1. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan


    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  2. [PFAPA syndrome]. (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida


    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  3. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita


    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  4. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;


    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  5. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N


    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  6. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod


    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  7. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf


    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  8. [Wilkie's syndrome]. (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál


    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  9. Morbihan syndrome. (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia


    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  10. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi


    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  11. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.


    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  12. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.


    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  13. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci


    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  14. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe


    /or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  15. Dumping Syndrome (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  16. Brugada Syndrome (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  17. Bloom syndrome. (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan


    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  18. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.


    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  19. Chylomicronemia syndrome (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  20. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.


    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  1. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti


    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  2. [Waardenburg's syndrome]. (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I


    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  3. Waardenburg's syndrome. (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P


    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  4. Caplan syndrome (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  5. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer


    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  6. Sotos Syndrome (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  7. Rett Syndrome. (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  8. Reifenstein syndrome (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  9. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts


    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  10. [SAPHO syndrome]. (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J


    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  11. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber


    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  12. Down Syndrome: Education (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  13. Down Syndrome: Eye Problems (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... Where can I find more information regarding Down Syndrome? National Down Syndrome Society VISIT SITE » Downs Syndrome Association VISIT ...

  14. Sexuality and Down Syndrome (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Shop NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ...

  15. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès


    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  16. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe


    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  17. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma


    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  18. Antiphospholipid syndrome. (United States)

    Cervera, Ricard


    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  19. Parinaud's syndrome. (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z


    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  20. Apert syndrome

    Directory of Open Access Journals (Sweden)



    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  1. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.


    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  2. Fluency Disorders in Genetic Syndromes (United States)

    Van Borsel, John; Tetnowski, John A.


    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  3. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T


    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  4. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta


    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  5. Postconcussional Syndrome


    Necla Keskin; Lut Tamam


    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  6. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A


    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  7. [Fibromyalgia syndrome]. (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S


    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  8. Gerstmann's syndrome.


    Sukumar, S.; Ferguson, G C


    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  9. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.


    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  10. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik


    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  11. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo


    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  12. Asperger Syndrome (For Parents) (United States)

    ... Teaching Kids to Be Smart About Social Media Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, ...

  13. Genetic obesity syndromes. (United States)

    Goldstone, Anthony P; Beales, Philip L


    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  14. Anesthesia & Down Syndrome (United States)

    ... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...

  15. Dental Issues & Down Syndrome (United States)

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  16. Heart and Down Syndrome (United States)

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  17. ADHD & Down Syndrome (United States)

    ... Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is a ... age. How Common Is ADD in Children With Down Syndrome? The frequency of ADHD in children with Down ...

  18. What Causes Down Syndrome? (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  19. Neonatal respiratory distress syndrome (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs between days ...

  20. 普罗米修斯“盗火”神话的现代重述--以郑振铎小说集《取火者的逮捕》为中心%Restatement of Prometheus "Stealing Fire"--With “The Arrest of Fire Stealer” by Zheng Zhenduo as Center

    Institute of Scientific and Technical Information of China (English)



    普罗米修斯是古希腊神话中的重要形象,也是中国现代作家最为关注和喜爱的希腊神话形象之一。随着西方神话学的引进,普罗米修斯神话中的“盗火”情节以及其中蕴含的启蒙意识、殉道精神和反抗意志为中国现代作家所关注和高扬。郑振铎作为古希腊神话的重要研究者,曾对普罗米修斯神话作出系统的研究和翻译,并以《取火者的逮捕》为题创作了系列小说,高扬了普罗米修斯大气凛然的英雄气概以及威武不屈的坚韧意志,集中表现出中国现代作家对这一“盗火”神话的价值诉求和精神追求。%Prometheus is an important image in Greek mythology, and the image for modern Chinese writer. When introduced to China, Prometheus "stealing of the fire" contains the enlightenment consciousness, martyrdom and resistance As a researcher of ancient Greek mythology, Zheng Zhenduo researches Prometheus myth and created a series of novels with the title of "The Arrest of Fire Stealer" which praised his heroic spirit and tenacious will by concentrating on “stealing Fire” in its value demands and spirit.

  1. Inherited ichthyosis: Syndromic forms. (United States)

    Yoneda, Kozo


    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  2. Carpal Tunnel Syndrome (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  3. Reversed Robin Hood Syndrome in the Light of Nonlinear Model of Cerebral Circulation (United States)

    Piechna, A.; Cieslicki, K.


    The brain is supplied by the internal carotid and vertebro-basilar systems of vessels interconnected by arterial anastomoses and forming at the base of the brain a structure called the Circle of Willis (CoW). An active intrinsic ability of cerebral vascular bed maintains constant Cerebral Blood Flow (CBF) in a certain range of systemic pressure changes. This ability is called autoregulation and together with the redundant structure of the CoW guarantee maintaining CBF even in partial occlusion of supplying arteries. However, there are some situations when the combination of those two mechanisms causes an opposite effect called the Reversed Robin Hood Syndrome (RRHS). In this work we proposed a model of the CoW with autoregulation mechanism and investigated a RRHS which may occur in the case of Internal Carotid Artery (ICA) stenosis combined with hypercapnia. We showed and analyzed the mechanism of stealing the blood by the contralateral side of the brain. Our results were qualitatively compared with the clinical reports available in the literature.

  4. Raynaud's syndrome and carpal tunnel syndrome.


    Waller, D G; Dathan, J R


    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  5. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata


    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  6. Morvan Syndrome (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire


    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  7. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.


    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  8. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM


    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  9. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar


    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  10. Jacobsen syndrome. (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul


    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  11. Chilaiditi syndrome. (United States)

    Walsh, S D; Cruikshank, J G


    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  12. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli


    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  13. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul


    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  14. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C


    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  15. Refeeding syndrome. (United States)

    Fuentebella, Judy; Kerner, John A


    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.


    Institute of Scientific and Technical Information of China (English)


    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  17. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario


    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  18. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar


    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  19. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco


    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  20. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie


    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  1. Sheehan's syndrome. (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah


    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  2. Klinefelter syndrome. (United States)

    Smyth, C M; Bremner, W J


    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  3. Down Syndrome (For Parents) (United States)

    ... Habits for TV, Video Games, and the Internet Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  4. Facts about Down Syndrome (United States)

    ... label> Information For… Media Policy Makers Facts about Down Syndrome Language: English (US) Español (Spanish) Recommend on ... children with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  5. Burnout Syndrome of Teachers


    Semrádová, Michaela


    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  6. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno


    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  7. Metabolic Syndrome: Polycystic Ovary Syndrome. (United States)

    Mortada, Rami; Williams, Tracy


    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy.

  8. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro


    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  9. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi


    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  10. ADHD and genetic syndromes. (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo


    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  11. First Trimester Down Syndrome Screen (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  12. Genetics Home Reference: Alport syndrome (United States)

    ... Alport Syndrome Recessive Type MalaCards: alport syndrome Merck Manual Consumer Version My46 Trait Profile Orphanet: Alport syndrome Patient Support and Advocacy Resources (3 links) Alport Syndrome Foundation National Organization for Rare Disorders (NORD) The Kidney Foundation of ...

  13. Genetics Home Reference: Werner syndrome (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  14. Prenatal Tests for Down Syndrome (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  15. Genetics Home Reference: Donohue syndrome (United States)

    ... resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome , are ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  16. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha


    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  17. Cushing syndrome in pediatrics. (United States)

    Stratakis, Constantine A


    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  18. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N


    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  19. Rare case of nephrotic syndrome: Schimke syndrome

    Directory of Open Access Journals (Sweden)

    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.

  20. Angelman syndrome. (United States)

    Kyllerman, Mårten


    Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. Angelman Syndrome. (United States)

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M


    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  2. Premenstrual Syndrome (PMS) FAQ (United States)

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  3. Brain Fag Syndrome

    African Journals Online (AJOL)

    syndrome. BFS is a tetrad of somatic complaints; cognitive impairments; sleep related complaints; and other somatic impairments. ..... BFS is a history told over time and through space. Divisions ..... Social origins of the brain fag syndrome.

  4. Milk-alkali syndrome (United States)

    ... this page: // Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  5. Kleine-Levin Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  6. Locked-In Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  7. Holmes-Adie Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  8. Central Cord Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  9. Lennox-Gastaut Syndrome (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  10. What Is Marfan Syndrome? (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  11. Post-Concussion Syndrome (United States)

    Post-concussion syndrome Overview By Mayo Clinic Staff Post-concussion syndrome is a complex disorder in which various symptoms — ... sometimes months after the injury that caused the concussion. Concussion is a mild traumatic brain injury that ...

  12. Hyperimmunoglobulin E syndrome (United States)

    ... page: // Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  13. Trisomy 13 (Patau Syndrome)

    National Research Council Canada - National Science Library

    Masoud Poureisa


    "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system...

  14. Restless Legs Syndrome Foundation (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  15. Dubin-Johnson syndrome (United States)

    ... this page: // Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down ...

  16. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.


    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management consist

  17. Learning about Klinefelter Syndrome (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  18. Learning about Velocardiofacial Syndrome (United States)

    ... Definitions for genetic terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? ... are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems. The name ...

  19. Diabetic hyperglycemic hyperosmolar syndrome (United States)

    ... this page: // Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  20. Ectopic Cushing syndrome (United States)

    ... Cushing syndrome in which a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH). Causes Cushing syndrome is a disorder that occurs when your body has a higher ...

  1. Organic brain syndrome (United States)

    ... state Intoxication from drug or alcohol use Wernicke-Korsakoff syndrome (a long-term effect of excessive alcohol consumption ... Substance use Transient ischemic attack Vascular dementia Wernicke-Korsakoff syndrome Review Date 2/27/2016 Updated by: Amit ...

  2. Gorlin‑Goltz Syndrome

    African Journals Online (AJOL)

    Annals of Medical and Health Sciences Research | Mar-Apr 2014 | Vol 4 | Issue 2 | ... Oral Medicine and Radiology, College of Dental Sciences and Reasearch, Bopal, Ahmeadabad, .... or GGS, Oro-facial-digital syndrome, Noonan syndrome,.

  3. Tics and Tourette Syndrome (United States)

    ... Children who have Tourette syndrome may also have learning disabilities or obsessive-compulsive disorder (thoughts or behaviors that ... my child who has tourette syndrome, involuntary movement, learning disabilities, learning disability, movement disorders, obsessive thoughts, obsessive-compulsive ...

  4. Sheehan's Syndrome (Postpartum Hypopituitarism) (United States)

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  5. Barth Syndrome (BTHS) (United States)

    ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ...

  6. Recurrent Goodpasture's syndrome.


    Burke, B. R.; Bear, R. A.


    Goodpasture's syndrome was diagnosed in a 17-year-old boy with glomerulonephritis and hemoptysis. He was successfully treated with cyclophosphamide, prednisone and courses of plasmapheresis. The syndrome recurred 3 1/2 years later and was again successfully treated.

  7. What Is Down Syndrome? (United States)

    ... Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% ... are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between ...

  8. Genetics Home Reference: otopalatodigital syndrome type 1 (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related ...

  9. Genetics Home Reference: otopalatodigital syndrome type 2 (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related ...

  10. Ogilvies syndrom efter sectio

    DEFF Research Database (Denmark)

    Schjoldager, B T; Sørensen, Jette Led; Svaerke, T


    Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time.......Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time....

  11. Hyperventilation and exhaustion syndrome


    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta


    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed ...

  12. Anisocoria and Horner's Syndrome (United States)

    ... Asked Questions Español Condiciones Chinese Conditions Anisocoria and Horner's Syndrome En Español Read in Chinese What is ... the affected eye. What are the signs of Horner’s syndrome? In Horner’s syndrome, the pupil in the ...

  13. Cushing's Syndrome in Children (United States)

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS ... conditions may cause what is known as pseudo-Cushing’s syndrome. Although this is more common in adults, it ...

  14. Williams Syndrome and Happiness. (United States)

    Levine, Karen; Wharton, Robert


    Discussion of Williams syndrome, a genetic disorder with a variety of medical and developmental features, focuses on frequent outward expression of happiness. Analysis of the unique expression of happiness in individuals with Williams syndrome is followed by discussion of this happiness in the context of other dimensions of the syndrome,…

  15. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha


    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  16. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R


    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  17. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian


    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  18. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar


    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  19. [Postpartum endocrine syndrome]. (United States)

    Ducarme, G; Châtel, P; Luton, D


    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  20. Behcet's Syndrome. (United States)

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf


    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).α inhibitors

  1. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN


    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  2. [Epidemiology of Asperger's syndrome]. (United States)

    Suzuki, Yukiko; Saito, Kazuhiko


    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  3. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf


    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  4. Down Syndrome Myths and Truths (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  5. Do you know this syndrome? Leopard syndrome* (United States)

    Cançado, Flávio Heleno da Silva Queiroz; da Silva, Luis Candido Pinto; Taitson, Paulo Franco; de Andrade, Ana Carolina Dias Viana; Pithon, Matheus Melo; Oliveira, Dauro Douglas


    Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome. PMID:28225973

  6. Basal cell nevus syndrome or Gorlin syndrome. (United States)

    Thalakoti, Srikanth; Geller, Thomas


    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  7. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha


    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  8. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev


    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  9. SAPHO syndrome associated spondylitis. (United States)

    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi


    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy.

  10. Fat embolism syndrome


    Jacob George; Reeba George; Dixit, R; Gupta, R C; Gupta, N.


    Fat embolism syndrome, an important contributor to the development of acute respiratory distress syndrome, has been associated with both traumatic and nontraumatic disorders. Fat embolization after long bone trauma is probably common as a subclinical event. Fat emboli can deform and pass through the lungs, resulting in systemic embolization, most commonly to the brain and kidneys. The diagnosis of fat embolism syndrome is based on the patient’s history, supported by clinical signs of pulmonar...

  11. Palmaris brevis spasm syndrome.


    SERRATRICE, G.; Azulay, J.P.; Serratrice, J; Pouget, J


    Palmaris brevis spasm syndrome is a rare and benign condition of localised muscular hyperactivity. In five men, the hypothenar eminence underwent spontaneous, irregular, tonic contractions of the palmaris brevis muscle. An EMG showed spontaneous high frequency discharges of normal motor units, without evidence of neuropathy or of nerve compression. This syndrome resembles other restricted muscle hyperactivity syndromes although there are some differences. Curiously, the palmaris brevis muscle...

  12. Streptococcal toxic shock syndrome


    Gvozdenović Ljiljana; Pasternak Janko; Milovanović Stanislav; Ivanov Dejan; Milić Saša


    Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella pre...

  13. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E


    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  14. The carpenter syndrome phenotype. (United States)

    Tarhan, Erkan; Oğuz, Haldun; Safak, Mustafa Asim; Samim, Erdal


    Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test.

  15. Lamotrigine induced DRESS syndrome

    Directory of Open Access Journals (Sweden)

    Kikkeri Narayanasetty Naveen


    Full Text Available Drug rash with eosinophilia and systemic symptoms (DRESS syndrome is a rare and life-threatening delayed drug hypersensitivity reaction characterized by skin eruption, fever, lymphadenopathies, and visceral involvement. Here, we are presenting a 12 year old boy, who developed rare but life threatening DRESS syndrome due to Lamotrigine. Early detection and treatment led to his rapid recovery. This case is presented to highlight the importance of early detection of rare fatal syndrome.

  16. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder


    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  17. Down syndrome: An overview


    Samuel Otabor Wajuihian


    Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiolo...

  18. [Excretory azoospermia: Young's syndrome]. (United States)

    Arrufat, J M; Cervelló, E; Albella, F


    The authors present a case of excretory azoospermia, whose deferentovesiculography and surgical exploration of the epididymis were normal. The patient presented bronchio-estasis and sinusitis as a result of which he was diagnosed as suffering from Young's syndrome. The authors make a review of the current state of the problem stressing the differences between Young's syndrome and immobile cilia syndrome described by Eliasson and colls.

  19. [Chilaidity syndrome. Case report]. (United States)

    Candela, Stefano; Candela, Giancarlo; Di Libero, Lorenzo; Argano, Francesco; Romano, Ornella; Iannella, Iolanda


    Chilaidity syndrome is a mal position by bowel mal rotation o malfissation. It is more common in right side expecially in obese people. If asyimptomatic, the syndrome is an occasional comparison by radiology, surgical exploration by laparoscopy or autopsy, otherwise, if symptomatic, there are obstructive symptoms,abdominal pain, nausea, vomiting, abdominal distension, flatulence, breath, constipation and anorexia. Diagnosis is radiological. We present a rare case of this syndrome in a man with serious obstructive symptoms.

  20. Alport's Syndrome in Pregnancy


    Suchita Mehta; Chadi Saifan; Marie Abdellah; Rita Choueiry; Rabih Nasr; Suzanne El-Sayegh


    Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function and can also develop preeclampsia. There are only four described cases of Alport's syndrome in pregnancy. Case Presentation. 20-year-old woman ...

  1. SAPHO syndrome associated spondylitis


    Takigawa, Tomoyuki; Tanaka, Masato; Nakanishi, Kazuo; Misawa,Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi


    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship ...

  2. Genetics Home Reference: Down syndrome (United States)

    ... Email Facebook Twitter Home Health Conditions Down syndrome Down syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Down syndrome is a chromosomal condition that is associated with ...

  3. Mental Health Issues & Down Syndrome (United States)

    ... Mental Health Issues & Down Syndrome Mental Health Issues & Down Syndrome What Are the Major Mental Health Related Concerns in Persons With Down Syndrome? At least half of all children and adults ...

  4. Genetics Home Reference: Horner syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Horner syndrome Horner syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Horner syndrome is a disorder that affects the eye ...

  5. Toxic Shock Syndrome (For Teens) (United States)

    ... Surgery? A Week of Healthy Breakfasts Shyness Toxic Shock Syndrome KidsHealth > For Teens > Toxic Shock Syndrome Print ... it, then take some precautions. What Is Toxic Shock Syndrome? If you're a girl who's had ...

  6. Genetics Home Reference: Arts syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Arts syndrome Arts syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Arts syndrome is a disorder that causes serious neurological ...

  7. Genetics Home Reference: Laron syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Laron syndrome Laron syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Laron syndrome is a rare form of short stature that ...

  8. Genetics Home Reference: Asperger syndrome (United States)

    ... Me Understand Genetics Home Health Conditions Asperger syndrome Asperger syndrome Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Asperger syndrome is a disorder on the autism spectrum, which ...

  9. Genetics Home Reference: Cockayne syndrome (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (7 links) ...

  10. Carpal Tunnel Syndrome (United States)

    ... Cryopyrin-Associated Autoinflammatory Syndrome (CAPS) (Juvenile) Dermatomyositis (Juvenile) Familial Mediterranean Fever (Juvenile) Fibromyalgia Giant Cell Arteritis Glucocorticoid-induced Osteoperosis ...

  11. Trauma induced eagle syndrome. (United States)

    Koivumäki, A; Marinescu-Gava, M; Järnstedt, J; Sándor, G K; Wolff, J


    Eagle syndrome is characterized by secondary calcification and elongation of the styloid process. Eagle syndrome is often associated with sharp, intermittent pain along the path of the glossopharyngeal nerve located in the hypopharynx and at the base of the tongue. In some cases, the stylohyoid apparatus can compress the internal and/or the external carotid arteries and their perivascular sympathetic fibres, resulting in a persistent pain radiating throughout the carotid territory. The pathogenesis of the syndrome is not understood. The authors report the case of a 52-year-old woman with post traumatic Eagle syndrome-like pain and pseudoarthrosis of the stylohyoid ligament.

  12. [Neurobiology of Tourette Syndrome]. (United States)

    Ünal, Dilek; Akdemir, Devrim


    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  13. Learning about Duane Syndrome (United States)

    ... Medicine for Patients and the Public Specific Genetic Disorders Learning About Duane Syndrome Specific Genetic Disorders Specific Genetic Disorders Learning About Prostate Cancer See Also: Talking Glossary of ...

  14. Learning about Marfan Syndrome (United States)

    ... Medicine for Patients and the Public Specific Genetic Disorders Learning About Marfan Syndrome Specific Genetic Disorders Specific Genetic Disorders Learning About Prostate Cancer See Also: Talking Glossary of ...

  15. Laugier-Hunziker syndrome. (United States)

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V


    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

  16. Rabson-mendenhall syndrome

    National Research Council Canada - National Science Library

    Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya


    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial...

  17. [Refeeding syndrome. A review]. (United States)

    Temprano Ferreras, J L; Bretón Lesmes, I; de la Cuerda Compés, C; Camblor Alvarez, M; Zugasti Murillo, A; García Peris, P


    Refeeding syndrome is a complex clinical picture that encompass all those alterations that can occur as a consequence of the nutritional support (oral, enteral or parenteral) in malnourished patients. Refeeding syndrome is classically characterized by neurological alterations, respiratory symptoms, cardiac arrhythmias and heart failure few days after beginning of refeeding, with life-threatening outcome. Its pathogenesis includes alterations in the corporal fluids, and in some electrolytes, minerals and vitamins. In this article a review of refeeding syndrome pathogenesis and clinical manifestations is carried out, with a final series of recommendations for lowering the risk of this syndrome and for facilitate the early diagnosis and the treatment.

  18. Compartment Syndrome in Children. (United States)

    Hosseinzadeh, Pooya; Hayes, Christopher B


    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Isolated pulmonary Goodpasture syndrome. (United States)

    Harrity, P; Gilbert-Barness, E; Cabalka, A; Hong, R; Zimmerman, J


    The case of a 13-year-old girl with Goodpasture syndrome is reported. The presentation at this age with only pulmonary hemorrhage is unusual among Goodpasture syndrome patients. The case illustrates well the diagnostic difficulties in Goodpasture syndrome. The choices of treatment modalities available for this disease and the results and risks of such treatment options are reviewed. A discussion and classification of diffuse pulmonary hemorrhage is presented. The case emphasizes that Goodpasture syndrome should be considered in the differential diagnosis of diffuse pulmonary hemorrhage in spite of a lack of renal abnormalities and that serum anti-glomerular basement membrane antibody testing can be of great help in confirming the diagnosis.

  20. Association of reversed Robin Hood syndrome with risk of stroke recurrence. (United States)

    Palazzo, P; Balucani, C; Barlinn, K; Tsivgoulis, G; Zhang, Y; Zhao, L; Dewolfe, J; Toaldo, B; Stamboulis, E; Vernieri, F; Rossini, P M; Alexandrov, A V


    Reversed Robin Hood syndrome (RRHS) has recently been identified as one of the mechanisms of early neurologic deterioration in acute ischemic stroke (AIS) patients related to arterial blood flow steal from ischemic to nonaffected brain. We sought to investigate the association of RRHS with risk of stroke recurrence in a single-center cohort study. Consecutive patients with AIS or TIA affecting the anterior circulation were prospectively evaluated with serial NIH Stroke Scale assessments and bilateral transcranial Doppler monitoring with breath-holding test. RRHS was defined according to previously validated criteria. A total of 360 patients (51% women, mean age 62 ± 15 years) had an ischemic stroke (81%) or TIA (19%) in the anterior circulation, and 30 (8%) of them had RRHS. During a mean follow-up period of 6 months (range 1-24), a total of 16 (4%) recurrent strokes (15 ischemic and 1 hemorrhagic) were documented. The cumulative recurrence rate was higher in patients with RRHS (19%; 95% confidence interval [CI] 1-37) compared to the rest (15%; 95% CI 0-30; p = 0.022 by log-rank test). All recurrent strokes in patients with RRHS were cerebral infarcts that occurred in the ipsilateral to the index event anterior circulation vascular territory. After adjusting for demographic characteristics, vascular risk factors, and secondary prevention therapies, RRHS was independently associated with a higher stroke recurrence risk (hazard ratio 7.31; 95% CI 2.12-25.22; p = 0.002). Patients with AIS and RRHS appear to have a higher risk of recurrent strokes that are of ischemic origin and occur in the same arterial territory distribution to the index event. Further independent validation of this association is required in a multicenter setting.

  1. Learning about Cri du Chat Syndrome (United States)

    ... Learning About Prostate Cancer Learning About Cri du Chat Syndrome What is cri du chat syndrome? What ... cri du chat syndrome What is cri du chat syndrome? Cri du chat syndrome - also known as ...

  2. Genetics Home Reference: isolated Duane retraction syndrome (United States)

    ... for This Condition co-contractive retraction syndrome Duane anomaly, isolated Duane retraction syndrome Duane syndrome Duane's syndrome ... of a gene for Duane retraction syndrome to chromosome 2q31. Am J Hum Genet. 1999 Dec;65( ...

  3. Sjögren's Syndrome (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  4. Polycystic ovary syndrome and metabolic syndrome. (United States)

    Ali, Aus Tariq


    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  5. Central Pain Syndrome (United States)

    ... or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain. × Definition Central pain syndrome is a neurological ...

  6. Post-Polio Syndrome (United States)

    ... or fatigue, this may overwork already stressed-out motor neurons and increase your risk of post-polio syndrome. Generally, post-polio syndrome is rarely life-threatening, but severe muscle weakness can lead to complications: Falls. Weakness in your leg muscles makes it ...


    Directory of Open Access Journals (Sweden)

    Z Moinfar


    Full Text Available Short rib polydactyly syndrome (SRPS is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects.

  8. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant


    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  9. Redefining syndromic surveillance. (United States)

    Katz, Rebecca; May, Larissa; Baker, Julia; Test, Elisa


    With growing concerns about international spread of disease and expanding use of early disease detection surveillance methods, the field of syndromic surveillance has received increased attention over the last decade. The purpose of this article is to clarify the various meanings that have been assigned to the term syndromic surveillance and to propose a refined categorization of the characteristics of these systems. Existing literature and conference proceedings were examined on syndromic surveillance from 1998 to 2010, focusing on low- and middle-income settings. Based on the 36 unique definitions of syndromic surveillance found in the literature, five commonly accepted principles of syndromic surveillance systems were identified, as well as two fundamental categories: specific and non-specific disease detection. Ultimately, the proposed categorization of syndromic surveillance distinguishes between systems that focus on detecting defined syndromes or outcomes of interest and those that aim to uncover non-specific trends that suggest an outbreak may be occurring. By providing an accurate and comprehensive picture of this field's capabilities, and differentiating among system types, a unified understanding of the syndromic surveillance field can be developed, encouraging the adoption, investment in, and implementation of these systems in settings that need bolstered surveillance capacity, particularly low- and middle-income countries. Copyright © 2011 Ministry of Health, Saudi Arabia. Published by Elsevier Ltd. All rights reserved.

  10. Rett Syndrome Fact Sheet (United States)

    ... gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ... the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, ...

  11. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen


    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous sys

  12. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha


    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  13. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L


    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  14. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts


    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  15. Moebius Syndrome Foundation (United States)

    ... to Moebius syndrome Who we are Mission and History Foundation leadership Scientific advisory board Press room Our stories Financial ... to Moebius syndrome » Who we are » Mission and History » Foundation leadership » Scientific advisory board » Press room » Our stories » Financial ...

  16. Juvenile polyposis syndrome

    NARCIS (Netherlands)

    L.A.A. Brosens; D. Langeveld; W.A. van Hattem; F.M. Giardiello; G.J.A. Offerhaus


    Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a

  17. The Aarskog syndrome. (United States)

    Fryns, J P; Macken, J; Vinken, L; Igodt-Ameye, L; van den Berghe, H


    In this report a description is given of the Aarskog syndrome in six males belonging to three different families. Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a round face with widow's peak and, in one of them, ptosis of the eyelids.

  18. Managing Sjogren's Syndrome. (United States)

    Grossman, Sheila; Tagliavini, Lynda B


    There are approximately 4 million Americans diagnosed with Sjogren's Syndrome. This article discusses the epidemiology, pathophysiology, diagnostics, and implications for home care clinicians who may encounter patients with this syndrome. Chronic pain is discussed as well as interventions to manage symptoms such fatigue, dry eyes mouth and skin.

  19. Lynch Syndrome revision.

    Directory of Open Access Journals (Sweden)

    Sila Castellón Mortera


    Full Text Available The literature regarding colon`s adenocarcinoma hereditary no poliposico or Lynch Syndrome is reviewed. The clinical characteristics, genetics and histologycal of colon´s adenocarcinoma hereditary, no poliposico are pointed out, so as the updated criteria approved in Amsterdam, for the diagnostic of patients with this Syndrome. The therapeutics is updated.

  20. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.


    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and self-ne

  1. Turner Syndrome (For Teens) (United States)

    ... Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually: write well learn well by hearing memorize information as well as others develop good language skills If you have Turner syndrome, you know ...

  2. Epidemiology of Down Syndrome (United States)

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.


    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  3. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette


    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  4. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen


    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  5. Rabson-mendenhall syndrome


    Kumar Sarita; Tullu Milind; Muranjan Mamta; Kamat Jaishree


    Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.

  6. Kleine Levin Syndrome

    Directory of Open Access Journals (Sweden)

    Abdul Wahid Khan, Zia Ud Din, Abdul Salam


    Full Text Available A case of Kleine Levin Syndrome is presented. Episodic course with spontaneous remission of eachepisode and characteristic features of hypersomnia, hyperphagia, disinhibited behavior. affective featureslike ilTitability and cognitive disturbance made the diagnosis of Kleine Levin syndrome 111 ourpatient.

  7. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP


    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having Klippel-Tren

  8. Ehlers-Danlos' syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense


    Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise...

  9. Androgen insensitivity syndrome (United States)

    ... syndrome URL of this page: // Androgen insensitivity syndrome To use the ... a condition in which the opening of the urethra is on the underside of the penis, instead of ... they can develop cancer, just like any undescended testicle. Estrogen replacement is ...

  10. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried


    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  11. [Orbitofrontal syndrome in psychiatry]. (United States)

    Murad, A


    Orbitofrontal syndrome is a variant of frontal lobe syndrome in which behavioural disturbances are prevailing. It results from bilateral lesions of the orbitofrontal cortex and the medial face of frontal lobe. Patients present disorganized hyperactivity. They are distractable, impulsive, euphoric and unable to abide by social rules. They often have instinctive disinhibition (hypersexuality, hyperphagia and urinary behaviour disorders). In spite of severe behavioural disturbances cognitive functions are often intact so that orbitofrontal syndrome may be confounded with two psychiatric disorders: mania (or hypomania) and antisocial personality disorder. In this article we present a case report of orbitofrontal syndrome which was initially misdiagnosed as mania. Clinical features and possible modes of presentation of this syndrome are discussed. It is suggested that serotonin reuptake inhibitors may be of some use in this disorder.

  12. [The refeeding syndrome]. (United States)

    Lambers, Wietske M; Kraaijenbrink, Bastiaan; Siegert, Carl E H


    The refeeding syndrome may occur during reintroduction of carbohydrates in malnourished patients. This syndrome is characterized by reduced plasma electrolyte levels, hypophosphataemia being most prevalent. The symptoms can vary from minor symptoms to severe neurological or cardiac symptoms. The pathophysiological mechanism comprises an increase in insulin levels, resulting in shifts of phosphate, potassium and magnesium into the intracellular environment, as well as fluid retention and relative deficiency of vitamin B1. There is growing interest in the screening and treatment of patients with malnutrition, due to which the incidence of refeeding syndrome is probably increasing. Currently, there is no single definition of this syndrome and therefore there is no solid scientific basis for screening and treatment. In this article we describe the rationale for screening and additional laboratory investigations. A prospective, controlled trial is important to define the clinical relevance of the refeeding syndrome and optimize its treatment.

  13. [Antiphospholipid syndrome and pregnancy]. (United States)

    Gadó, Klára; Domján, Gyula


    Antiphospholipid syndrome is characterized by arterial and venous thromboembolic events and persistent laboratory evidence of antiphospholipid antibodies. Obstetric complications such as recurrent miscarriage, early delivery, oligohydramnios, prematurity, intrauterine growth restriction, fetal distress, fetal or neonatal thrombosis, pre-eclampsia/eclampsia, and HELLP syndrome are also hallmarks of antiphospholipid syndrome. This syndrome is one of the diseases associated with the most severe thrombotic risk. Changes in the hemostatic system during normal pregnancy also result in a hypercoagulable state resulting in elevated thrombotic risk. Thromboembolic events are responsible of the vast majority of maternal and fetal deaths. Administration of appropriate thromboprophylaxis helps prevent thromboembolic complications during pregnancy in women with antiphospholipid syndrome and also give birth to healthy children. It is important to centralize the medication and management of these patients. It helps in the thoughtful care of these pregnant women encountering serious problems.

  14. Eisenmenger Syndrome in Pregnancy

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    Full Text Available Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

  15. Familial pituitary tumor syndromes. (United States)

    Elston, Marianne S; McDonald, Kerrie L; Clifton-Bligh, Roderick J; Robinson, Bruce G


    The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

  16. Eagle syndrome: case report. (United States)

    Uludağ, İrem Fatma; Öcek, Levent; Zorlu, Yaşar; Uludağ, Burhanettin


    Eagle syndrome is an aggregate of symptoms caused by an elongated styloid process, most frequently resulting in headache, facial pain, dysphagia and sensation of foreign body in throat. The proper diagnosis is not difficult with clinical history, physical examination and radiographic assessment if there is a sufficient degree of suspicion. The treatment is very effective. We report here a typical case of Eagle syndrome which was misdiagnosed as trigeminal neuralgia for many years and was treated with carbamazepine. We aim to point the place of Eagle syndrome in the differential diagnosis of facial pain. We also re-emphasize the usefulness of the three-dimensional computed tomography in the diagnosis of Eagle syndrome. Even though Eagle syndrome is a rare condition, in cases of facial pain refractory to treatment or unexplained complaints of the head and neck region, it should be considered in the differential diagnosis as it has therapeutic consequences.

  17. [Schizophrenia or Asperger syndrome?]. (United States)

    Da Fonseca, David; Viellard, Marine; Fakra, Eric; Bastard-Rosset, Delphine; Deruelle, Christine; Poinso, François


    Patients with Asperger syndrome are often diagnosed late or are wrongly considered to have schizophrenia. Misdiagnosing Asperger syndrome creates serious problems by preventing effective therapy. Several clinical signs described in Asperger syndrome could also be considered as clinical signs of schizophrenia, including impaired social interactions, disabilities in communication, restricted interests, and delusions of persecution. A number of clinical features may facilitate the differential diagnosis: younger age at onset, family history of pervasive developmental disorder, recurring conversations on the same topic, pragmatic aspects of language use, oddities of intonation and pitch, lack of imagination, and incomprehension of social rules are more characteristic of Asperger syndrome. Accurate distinction between Asperger syndrome and schizophrenia would make it possible to offer more treatment appropriate to the patient's functioning.

  18. Gorlin-goltz syndrome. (United States)

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V


    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  19. Atraumatic painless compartment syndrome. (United States)

    Blanchard, Scott; Griffin, Gregory D; Simon, Erin L


    Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury.

  20. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup


    , 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...... disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.......Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...

  1. [Asthenic syndrome in patients with burnout syndrome]. (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A


    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  2. Syndrome in question: Gorlin-Goltz syndrome* (United States)

    Ribeiro, Pauline Lyrio; de Souza Filho, João Basílio; de Abreu, Karina Demoner; Brezinscki, Marisa Simon; Pignaton, Christine Chambo


    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome. PMID:27579759

  3. Toxic Shock Syndrome (For Parents) (United States)

    ... Feeding Your 1- to 2-Year-Old Toxic Shock Syndrome KidsHealth > For Parents > Toxic Shock Syndrome Print ... en español Síndrome de shock tóxico About Toxic Shock Syndrome Toxic shock syndrome (TSS) is a serious ...


    Directory of Open Access Journals (Sweden)

    A. P. Rebrov


    Full Text Available Summary Analysis of the prevalence and clinical manifestations of paraneoplastic syndrome in 173 patients with malignant tumors admitted in departments internal medicine of Regional Clinical hospital was done. Paraneoplastic syndromes was found in 13 patients (7% and was characterized by the following rheumatic manifestations: articular syndrome, dermato- and polymyositis, lupus-like syndrome.

  5. Loin pain hematuria syndrome. (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans


    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis.

  6. Dysmobility syndrome: current perspectives (United States)

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa


    Background A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome. Method All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest), CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized. Results The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study). No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies). Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality. Conclusion Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. PMID:28144132

  7. Streptococcal toxic shock syndrome

    Directory of Open Access Journals (Sweden)

    Gvozdenović Ljiljana


    Full Text Available Introduction. Streptococcal toxic shock syndrome is now recognized as a toxin-mediated, multisystem illness. It is characterized by an early onset of shock with multiorgan failure and continues to be associated with high morbidity and mortality, caused by group A Streptococcus pyogenes. The symptoms for staphylococcal and streptococcal toxic shock syndrome are similar. Streptococcal toxic shock syndrome was not well described until 1993, when children who had suffered from varicella presented roughly 2-4 weeks later with a clinical syndrome highly suggestive of toxic shock syndrome. Characteristics, complications and therapy. It is characterized by a sudden onset of fever, chills, vomiting, diarrhea, muscle aches and rash. It can rapidly progress to severe and intractable hypotension and multisystem dysfunction. Almost every organ system can be involved. Complications of streptococcal toxic shock syndrome may include kidney failure, liver failure and even death. Crystalloids and inotropic agents are used to treat the hypovolemic shock aggressively, with close monitoring of the patient’s mean arterial pressure and central venous pressure. An immediate and aggressive management of hypovolemic shock is essential in streptococcal toxic shock syndrome. Targeted antibiotics are indicated; penicillin or a betalactam antibiotic is used for treating group A streptococci, and clindamycin has emerged as a key portion of the standard treatment.

  8. Vascular compression syndromes. (United States)

    Czihal, Michael; Banafsche, Ramin; Hoffmann, Ulrich; Koeppel, Thomas


    Dealing with vascular compression syndromes is one of the most challenging tasks in Vascular Medicine practice. This heterogeneous group of disorders is characterised by external compression of primarily healthy arteries and/or veins as well as accompanying nerval structures, carrying the risk of subsequent structural vessel wall and nerve damage. Vascular compression syndromes may severely impair health-related quality of life in affected individuals who are typically young and otherwise healthy. The diagnostic approach has not been standardised for any of the vascular compression syndromes. Moreover, some degree of positional external compression of blood vessels such as the subclavian and popliteal vessels or the celiac trunk can be found in a significant proportion of healthy individuals. This implies important difficulties in differentiating physiological from pathological findings of clinical examination and diagnostic imaging with provocative manoeuvres. The level of evidence on which treatment decisions regarding surgical decompression with or without revascularisation can be relied on is generally poor, mostly coming from retrospective single centre studies. Proper patient selection is critical in order to avoid overtreatment in patients without a clear association between vascular compression and clinical symptoms. With a focus on the thoracic outlet-syndrome, the median arcuate ligament syndrome and the popliteal entrapment syndrome, the present article gives a selective literature review on compression syndromes from an interdisciplinary vascular point of view.

  9. Huntington's disease phenocopy syndromes. (United States)

    Wild, Edward J; Tabrizi, Sarah J


    Patients presenting with features of Huntington's disease but lacking the causative genetic expansion can be challenging diagnostically. The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed. Cohort studies have established the relative frequencies of known Huntington's disease phenocopy syndromes, whereas newly described ones have been characterized genetically, clinically, radiologically and pathologically. About 1% of suspected Huntington's disease cases emerge as phenocopy syndromes. Such syndromes are clinically important in their own right but may also shed light on the pathogenesis of Huntington's disease. Huntington's disease produces a range of clinical phenotypes, and the range of syndromes that may be responsible for Huntington's disease phenocopies is correspondingly wide. Cohort studies have established that, while the majority of phenocopy patients remain undiagnosed, in those patients where a genetic diagnosis is reached the commonest causes are SCA17, Huntington's disease-like syndrome 2 (HDL2), familial prion disease and Friedreich's ataxia. We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, chorea-acanthocytosis and iron-accumulation disorders. We present an evidence-based framework for the genetic testing of Huntington's disease phenocopy cases.

  10. Rare case of nephrotic syndrome: Schimke syndrome. (United States)

    Pedrosa, Anna Kelly Krislane de Vasconcelos; Torres, Luiz Fernando Oliveira; Silva, Ana Corina Brainer Amorim da; Dantas, Adrianna Barros Leal; Zuntini, Káthia Liliane da Cunha Ribeiro; Aguiar, Lia Cordeiro Bastos


    Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case. Resumo A síndrome Schimke corresponde à displasia imuno-óssea, associada à doença renal progressiva secundária à síndrome nefrótica córtico-resistente, podendo haver outras anormalidades como hipotireoidismo e aplasia de medula óssea. Trata-se de uma patologia genética rara, com poucos relatos na literatura. O acometimento renal mais frequente é uma síndrome nefrótica por glomeruloesclerose segmentar e focal e falência renal progressiva. O objetivo deste estudo foi relatar um caso de síndrome de Schimke, investigação diagnóstica e condução do caso.

  11. Eagle syndrome. A narrative review


    Heber Arbildo; Luis Gamarra; Sandra Rojas; Edward Infantes; Hernán Vásquez


    Painful disorders in the maxillofacial region are common in dental practice. Most of these conditions are not properly diagnosed because of inadequate knowledge of craniofacial and cervico-pharyngeal syndromes such as Eagle Syndrome. The aim of this review is to describe the general aspects, diagnosis and treatment of Eagle syndrome. Eagle syndrome or stylohyoid syndrome was first described by Watt W. Eagle in 1937. It was defined as orofacial pain related to the elongation of the styloid pro...

  12. [Refeeding syndrome: practical issues]. (United States)

    Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J


    The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

  13. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas


    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.


    Directory of Open Access Journals (Sweden)



    Full Text Available ABSTRACT: Tolosa-Hunt syndrome (THS is a painful ophthalmoplegi a caused by nonspecific inflammation of the cavernous sinus or superior orbi tal fissure. The syndrome consists of periorbital or hemicranial pain, combined with ipsilat eral ocular motor nerve palsies, oculosympathetic paralysis, and sensory loss in the distribution of the ophthalmic and occasionally the maxillary division of the trigemin al nerve. Although they have relapsing and remitting course, they respond promptly to systemic co rticosteroid therapy. The diagnostic eponym Tolosa-Hunt syndrome has been applied to these patients and it is this entity which forms the basis of this review

  15. Iliotibial band friction syndrome. (United States)

    Lavine, Ronald


    Published articles on iliotibial band friction syndrome have been reviewed. These articles cover the epidemiology, etiology, anatomy, pathology, prevention, and treatment of the condition. This article describes (1) the various etiological models that have been proposed to explain iliotibial band friction syndrome; (2) some of the imaging methods, research studies, and clinical experiences that support or call into question these various models; (3) commonly proposed treatment methods for iliotibial band friction syndrome; and (4) the rationale behind these methods and the clinical outcome studies that support their efficacy.

  16. Mirizzi’s Syndrome

    Directory of Open Access Journals (Sweden)



    Full Text Available Mirizzi’s syndrome was an obstruction caused by gallstone located in gallbladder neck (or cystic duct or outside gallbladder that caused a dilatation of gallbladder and narrowing of adjacent duct, sometimes with the presence of cholecystocholedochal fistula. Mirizzi’s syndrome was a rare complication of gallbladder stone. We reported a 42 years old woman complained progressive icteric sclera. Patients also complained dark urine and light stool. During physical examination, we found an icteric sclera, pain in right upper quadrant (visual analogue scale/VAS 3, and generalized icterus (greenish yellow. Complete examination revealed a Mirizzi’s syndrome.

  17. Olfactory Reference Syndrome

    Directory of Open Access Journals (Sweden)

    Alper Evrensel


    Full Text Available Olfactory reference syndrome is a delusional disorder in which the patient persistently and falsely believes that his or her body emits a foul odor. The disease is considered a variant of somatic type of delusional disorder under the diagnostic systems. Similarities between olfactory reference syndrome and obsessive compulsive disorder have also been noted. The etiopathogenesis of the disorder has not yet been clarified. Antidepressants, antipsychotics and psychotherapy are used in the treatment of this disorder. The aim of this article was to review clinical features, neurobiology, differantial diagnosis, classification problems and treatment of olfactory reference syndrome.

  18. Klippel-Trenaunay syndrome. (United States)

    Forbes, N; Walwyn, M; Rao, G; Ellis, D; Lee, M G


    Klippel-Trenaunay syndrome (KTS) is a rare congenital, vascular disorder affecting one or more limbs. The syndrome is characterized by capillary malformations, soft tissue or bony hypertrophy and varicose veins or venous malformations. We present a case of this disorder in a twelve-year old boy who had an enlarged right lower limb with varicosities. Investigations revealed extensive superficial and deep venous varices, with dilatation of the right common iliac and external iliac veins. Klippel-Trenaunay syndrome should be suspected in a child presenting with capillary haemangioma and an enlarged limb.

  19. Dostoevsky and Stendhal's syndrome. (United States)

    Amâncio, Edson José


    Stendhal's syndrome occurs among travelers when they encounter a work of art of great beauty. It is characterized by an altered perception of reality, emotional disturbances, and crises of panic and anxiety with somatization. The patient profile described originally for this syndrome was of particularly sensitive individuals who were admirers of works or art: artists, poets, writers and art students, among others. The Russian writer Fyodor Mikhailovich Dostoevsky suffered from epilepsy and there is evidence that he presented the symptoms of Stendahl's syndrome while contemplating some works of art, particularly when viewing Hans Holbein's masterpiece, Dead Christ, during a visit to the museum in Basle.

  20. Hemolytic uremic syndrome. (United States)

    Canpolat, Nur


    Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by the triad of thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Hemolytic uremic syndrome represents a heterogeneous group of disorders with variable etiologies that result in differences in presentation, management and outcome. In recent years, better understanding of the HUS, especially those due to genetic mutations in the alternative complement pathway have provided an update on the terminology, classification, and treatment of the disease. This review will provide the updated classification of the disease and the current diagnostic and therapeutic approaches on the complement-mediated HUS in addition to STEC-HUS which is the most common cause of the HUS in childhood.

  1. [Plummer-Vinson syndrome]. (United States)

    Munyó, J C; Leborgne, F; Regules, J E


    The Plummer-Vinson syndrome is very uncommon in Latin America. Four cases showing the clinical-radiological and hematological features of this syndrome are described. Three cases were treated with esophageal dilatation and Ferro therapy. The radiological evaluation may show deformities in the faringo-esophageal lumen other than the esophageal webs, such as hypertrophy of the cricopharingeal sphincter and of the retrocricoid venous plexus as well as the demonstration of esophageal webs in the patients without symptoms or signs of the Plummer Vinson Syndrome.

  2. Cantu syndrome and lymphoedema. (United States)

    García-Cruz, Diana; Mampel, Alejandra; Echeverria, Maria I; Vargas, Ana L; Castañeda-Cisneros, Gema; Davalos-Rodriguez, Nory; Patiño-Garcia, Brenda; Garcia-Cruz, Maria O; Castañeda, Victor; Cardona, Ernesto G; Marin-Solis, Bertha; Cantu, Jose M; Nuñez-Reveles, Nelly; Moran-Moguel, Cristina; Thavanati, Pavarthi K R; Ramirez-Garcia, Sergio; Sanchez-Corona, Jose


    Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition.

  3. Ischemic Bilateral Opercular Syndrome

    Directory of Open Access Journals (Sweden)

    Aysel Milanlioglu


    Full Text Available Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  4. Ischemic bilateral opercular syndrome. (United States)

    Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel


    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.

  5. Gardner′s Syndrome

    Directory of Open Access Journals (Sweden)

    Sapna Panjwani


    Full Text Available Gardner′s syndrome is an autosomal dominant disease and is a subtype of familial adenomatous polyposis. It is characterized by adenomatous intestinal polyps, multiple osteomas in the skull, maxillae, mandible, and multiple cutaneous and subcutaneous masses (epidermoids and desmoid. Intestinal polyps, if not treated, have 100% chance of becoming malignant. We report a case of a 25-year-old female patient with Gardner′s syndrome, with clinical manifestations including impacted supernumerary teeth, odontomes, sebaceous cyst on the scalp, and osteomas. It is important for the general dental practitioners to be aware of the clinical and radiological characteristics of Gardner′s syndrome.

  6. [Asperger's syndrome in females]. (United States)

    Waris, Petra; Kulomäki, Tuula; Tani, Pekka


    Literature on Asperger's syndrome (AS) has mainly described symptoms that are manifested in boys. Only recently, attention has been paid on the features in AS girls that differ from the typical clinical picture and may complicate the detection of the syndrome. Because AS girls may react passively in general or compensate or hide their difficulties by other abilities, the need for support is not necessarily brought up. In that case this developmental disorder easily remains unrecognized. Recognition of the syndrome at an early stage makes early supportive actions possible.

  7. Coffin-Lowry syndrome


    Martínez, Nancy; Pontificia Universidad Javeriana; Orlando, Ricardo; Pontificia Universidad Javeriana; Muñoz, Kelly José; Pontificia Universidad Javeriana


    The Coffin-Lowry syndrome is an X-linked genetic disease, characterized by multiple skeletal deformities, short stature, and developmental delay, neurological disorder, cardiac disorders, renal and other disturbances. If not detected and treated early the syndrome may cause neural sensory hearing loss and progressive spine deformation.We report the case of a Coffin-Lowry syndrome in a 10 year old boy with hypotonic clinical characteristics, short stature, neurological development delay and pr...

  8. Rabson-Mendenhall syndrome

    Directory of Open Access Journals (Sweden)

    J Gupta


    Full Text Available Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder affecting insulin receptor. This disorder is characterized by insulin-resistant diabetes mellitus, hyperinsulinemia, deficiency of subcutaneous fat, acanthosis nigrican, growth retardation, coarse and senile appearance, precocious puberty, and dental prematurity, enlarged genitalia, and pineal hyperplasia. Mutations of the insulin receptor gene affecting insulin action appear to be the basic mechanism underlying this syndrome. Herein, we present a case report on Rabson-Mendenhall syndrome in a 9-year-old girl.

  9. Recurrent Miller Fisher syndrome. (United States)

    Madhavan, S; Geetha; Bhargavan, P V


    Miller Fisher syndrome (MFS) is a variant of Guillan Barre syndrome characterized by the triad of ophthalmoplegia, ataxia and areflexia. Recurrences are exceptional with Miller Fisher syndrome. We are reporting a case with two episodes of MFS within two years. Initially he presented with partial ophthalmoplegia, ataxia. Second episode was characterized by full-blown presentation characterized by ataxia, areflexia and ophthalmoplegia. CSF analysis was typical during both episodes. Nerve conduction velocity study was fairly within normal limits. MRI of brain was within normal limits. He responded to symptomatic measures initially, then to steroids in the second episode. We are reporting the case due to its rarity.

  10. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span. (United States)

    Tyler, Carl; Edman, Jennifer C


    Down syndrome, Turner syndrome, and Klinefelter syndrome constitute the most common chromosomal abnormalities encountered by primary care physicians. Down syndrome typically is recognized at birth, Turner syndrome often is not recognized until adolescence,and many men with Klinefelter syndrome are never diagnosed. Although each syndrome is caused by an abnormal number of chromosomes, or aneuploidy, they are distinct syndromes with learning disabilities and a predisposition toward autoimmune diseases,endocrinologic disorders, and cancers. Optimal health care requires a thorough knowledge of the unique health risks, psychoeducational needs, functional capabilities, and phenotypic variation associated with each condition. Syndrome-specific health care should complement standard preventive health care recommendations. Checklists and syndrome-specific growth grids should be used. Ongoing communication between specialists and primary care physicians and between pediatric and adult clinicians is essential. Support groups and Internet resources can benefit affected individuals and their families immensely.

  11. Myocardial infarction association with the Riley-Day syndrome. (United States)

    Reshef, R; Aderka, D; Suprun, H; Manelis, G; Manelis, J


    The "sudden death" of a 23-year-old Ashkenazy Jew, suffering from "familial dysautonomia" was probably caused by an arrhythmia accompanying a myocardial infarction. Such a report is unique. Diffuse coronary atherosclerosis and direct myocardial "catecholamine cardiomyopathy" seem responsible for the myocardial damage. However, diversion of the endocardial blood flow toward dpicardium and a "coronary steal" phenomenon, both the result of a sudden catecholamine discharge, could aggravate the ischemic injury.

  12. Distal arthrogryposis syndrome

    Directory of Open Access Journals (Sweden)

    Kulkarni K


    Full Text Available A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

  13. Atypical charles bonnet syndrome. (United States)

    Arun, Priti; Jain, Rajan; Tripathi, Vaibhav


    Charles Bonnet syndrome (CBS) is not uncommon disorder. It may not present with all typical symptoms and intact insight. Here, a case of atypical CBS is reported where antipsychotics were not effective. Patient improved completely after restoration of vision.

  14. Acute Radiation Syndrome (United States)

    ... Matters Information on Specific Types of Emergencies Acute Radiation Syndrome (ARS): A Fact Sheet for the Public ... is called the radiation dose. People exposed to radiation will get ARS only if: The radiation dose ...

  15. Stuttering and Tourette's Syndrome (United States)

    ... Adults Teachers Speech-Language Pathologists Physicians Employers Tweet Stuttering and Tourette's Syndrome Parents of Preschoolers Parents of ... to 3 people in 1000. Just as in stuttering, TS is more common in males than females ( ...

  16. Cyclic Vomiting Syndrome (United States)

    ... or the flu eating certain foods, such as chocolate or cheese, or additives such as caffeine, nitrites— ... people with cyclic vomiting syndrome. Eating, Diet, and Nutrition During the prodrome and vomiting phases of cyclic ...

  17. Cri du chat syndrome (United States)

    ... is no specific treatment. Your provider will suggest ways to treat or manage the symptoms. Parents of a child with this syndrome should have genetic counseling and testing to determine if one parent has a change in chromosome 5.

  18. Treacher Collins Syndrome (United States)

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  19. Guillain-Barre Syndrome (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system ( ... over a period of weeks and then stabilize. Guillain-Barre can be hard to diagnose. Possible tests include ...

  20. Nephrotic Syndrome in Adults (United States)

    ... Kidney Disease Nephrotic Syndrome in Adults Related Topics Section Navigation Kidney Disease Acquired Cystic Kidney Disease Amyloidosis & ... for a Child with Kidney Disease Ectopic Kidney Medullary Sponge Kidney Kidney Dysplasia Kidney Failure Choosing a ...

  1. Fragile X Syndrome (United States)

    Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes ... the protein. This causes the symptoms of Fragile X. People with only a small change in the ...

  2. Polycystic Ovary Syndrome (United States)

    ... Staff Polycystic ovary syndrome (PCOS) is a common endocrine system disorder among women of reproductive age. Women with PCOS ... and symptoms and then rules out other possible disorders. During this ... An Endocrine Society clinical practice guideline. The Journal of Clinical ...


    Directory of Open Access Journals (Sweden)

    Dmitriy Valer'evich Artem'ev


    Full Text Available The paper describes the epidemiology, etiology, pathogenesis, clinical picture, diagnosis, differential diagnosis, and treatment of restless legs syndrome. Recommendations are given how to choose therapeutic modalities and drugs in relation to different factors.

  4. The operculum syndrome

    African Journals Online (AJOL)

    operculum syndrome usually has a-more favourable prognosis ... when he had had an acute cerebrovascular accident which left him with mild ... respiratory or abdominal signs. ... symptoms, such as impaired deglurition (salivation, difficulty.

  5. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.


    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  6. Ellis Von Creveld Syndrome

    Directory of Open Access Journals (Sweden)

    Afshar H


    Full Text Available One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart"ndisease, ectodermal dysplasia, polyductyly, an abnormally wide labial frenum and maxillary"nmolars with single root.

  7. Cutaneous nerve entrapment syndrome

    Institute of Scientific and Technical Information of China (English)



    The cutaneous nerve entrapment syndrome is named that, the cutaneous nerve's functional disorder caused by some chronic entrapment, moreover appears a series of nerve's feeling obstacle,vegetative nerve function obstacle, nutrition obstacle, even motor function obstacle in various degree.

  8. Cardiorenal Syndromes and Sepsis

    Directory of Open Access Journals (Sweden)

    C. Chelazzi


    Full Text Available The cardiorenal syndrome is a clinical and pathophysiological entity defined as the concomitant presence of renal and cardiovascular dysfunction. In patients with severe sepsis and septic shock, acute cardiovascular, and renal derangements are common, that is, the septic cardiorenal syndrome. The aim of this paper is to describe the pathophysiology and clinical features of septic cardiorenal syndrome in light of the actual clinical and experimental evidence. In particular, the importance of systemic and intrarenal endothelial dysfunction, alterations of kidney perfusion, and myocardial function, organ “crosstalk” and ubiquitous inflammatory injury have been extensively reviewed in light of their role in cardiorenal syndrome etiology. Treatment includes early and targeted optimization of hemodynamics to reverse systemic hypotension and restore urinary output. In case of persistent renal impairment, renal replacement therapy may be used to remove cytokines and restore renal function.

  9. Dumping syndrome (image) (United States)

    Dumping syndrome occurs when the contents of the stomach empty too quickly into the small intestine. The ... causing nausea, cramping, diarrhea, sweating, faintness, and palpitations. Dumping usually occurs after the consumption of too much ...

  10. Prader-Willi syndrome (United States)

    ... Willi syndrome. It can help: Build strength and agility Improve height Increase muscle mass and decrease body ... The following organizations can provide resources and support: ... Prader Willi California Foundation: ...

  11. Chronic Fatigue Syndrome (United States)

    Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that ... activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You ...

  12. Blind loop syndrome (United States)

    ... part of the stomach) and operations for extreme obesity As a complication of inflammatory bowel disease Diseases such as diabetes or scleroderma may slow down movement in a segment of the intestine, leading to blind loop syndrome.

  13. Down Syndrome (For Parents) (United States)

    ... disorders, breathing problems, including sleep apnea and asthma, obesity, an increased chance of infections, and a higher risk of childhood leukemia. People with Down syndrome sometimes have an unstable upper spine and should ...

  14. Facts About Usher Syndrome (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... type 1 Usher syndrome are profoundly deaf at birth and have severe balance problems. Many of these ...

  15. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander


    to 75% of the patients left undetected. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty. Early detection of this syndrome is recommended in order to offer treatment and intervention...... at the appropriate ages and stages of development for the purpose of preventing osteopenia/osteoporosis, metabolic syndrome, and other medical conditions related to hypogonadism and to the XXY as well as minimizing potential learning and psychosocial problems. The aim of this review is to present the clinical......47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...

  16. Obesity Hypoventilation Syndrome (United States)

    ... page from the NHLBI on Twitter. What Is Obesity Hypoventilation Syndrome? Obesity hypoventilation (HI-po-ven-tih- ... NHLBI Research Featured in HBO Documentary Series on Obesity Hear people talk about their challenges and successes ...

  17. Treacher Collins Syndrome (United States)

    ... cleft palate is a frequently associated conditions this syndrome. Cleft palate itself sometimes can cause feeding problems and increase the risk of middle ear problems. Your child’s primary care provider or cleft palate or craniofacial ...

  18. Joubert Syndrome, A Ciliopathy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap


    Full Text Available Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

  19. Beckwith-Wiedemann syndrome (United States)

    ... Wiedemann syndrome References Jones KL, Jones M, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . ... Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Growth Disorders Browse ...

  20. Carpal Tunnel Syndrome (United States)

    ... arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and ... difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include ...

  1. Polycystic Ovary Syndrome FAQ (United States)

    ... are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • What can high levels of androgens lead to? • What can irregular menstrual periods lead ...

  2. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.


    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females a

  3. Chronic Exertional Compartment Syndrome (United States)

    ... through the pain; that can lead to permanent muscle or nerve damage. Sometimes chronic exertional compartment syndrome is mistaken for shin splints, a more common cause of leg pain in young people who do a lot of vigorous weight- ...

  4. Sjogren's Syndrome Foundation (United States)

    ... and receive discounts on Sjögren's resources. Follow Us Online! Join the SSF on Twitter, YouTube, Facebook, and Linkedin! anxiety © 2016 Sjögren’s Syndrome Foundation, Inc. 6707 Democracy Blvd, Ste 325, Bethesda, ...


    Directory of Open Access Journals (Sweden)

    Subhasis Ranjan


    Full Text Available Piriformis syndrome is a painful musculoskeletal condition resembling sciatica, secondary to sciatic nerve entrapment in piriformis muscle at the greater sciatic notch and responsible for 6%cases of low back pain, also called back pocket sciatica or wallet sciatica, first described in 1928 by Yeoman. It usually occurs due to abnormalities in piriformis muscle such as hypertrophy, inflammation and anatomic variations resulting in irritation and entrapment of sciatic nerve. The diagnosis of piriformis syndrome is made by clinical features, electromyography and nerve conduction velocity, computed tomography, magnetic resonance imaging and bone scan. Management of piriformis syndrome includes nonsurgical and surgical interventions. Non-surgical management includes- nonsteroidal anti-inflammatory drugs, physical therapy, ultrasound, correction of biomechanical abnormality, lifestyle modifications, local anesthetic and/or steroid injection into the piriformis muscle. Surgical management includes-surgical release of piriformis muscle and decompression of the sciatic nerve. Piriformis Syndrome- a review.

  6. Catastrophic Antiphospholipid Syndrome

    Directory of Open Access Journals (Sweden)

    Rawhya R. El-Shereef


    Full Text Available This paper reports one case of successfully treated patients suffering from a rare entity, the catastrophic antiphospholipid syndrome (CAPS. Management of this patient is discussed in detail.

  7. Russell-Silver syndrome (United States)

    ... other conditions that may mimic Russell-Silver syndrome) Treatment Growth hormone replacement may help if this hormone is lacking. Other treatments include: Making sure the person gets enough calories, ...

  8. Prader-Willi syndrome

    National Research Council Canada - National Science Library

    Cassidy, Suzanne B; Driscoll, Daniel J


    Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy...

  9. Vogt koyanagi harada syndrome

    Directory of Open Access Journals (Sweden)

    Amin S


    Full Text Available A case of Vogt Koyanagi Harada syndrome is reported. The depigmented macules appeared initially over eyebrows and around both eyes after an episode of fever and then rapidly involved almost the entire body within 6 months.

  10. Complex Regional Pain Syndrome (United States)

    Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. ... in skin temperature, color, or texture Intense burning pain Extreme skin sensitivity Swelling and stiffness in affected ...

  11. Sun and Sjogren's Syndrome (United States)

    Patient Education Sheet The Sun and Sjögren’s Syndrome The SSF thanks Mona Z. Mofid, MD, FAAD, Diplomate, American Board of Dermatology, and Medical Director, American Melanoma Foundation, San Diego, California, ...

  12. Acute heart failure syndrome

    African Journals Online (AJOL) ... When heart failure develops gradually, there is time for the compensatory ... of this can be seen in acute brain injury, some forms of takotsubo syndrome or .... reduce blood pressure in cases presenting with elevated blood pressure.

  13. Bardet-Biedl Syndrome (United States)

    ... symptoms progress rapidly and usually lead to severe visual impairment by early adulthood. In addition to RP, polydactyly ( ... Biedl syndrome experience developmental disabilities ranging from mild impairment or delayed emotional development to mental retardation. The degree of mental retardation ...

  14. Zollinger-Ellison Syndrome (United States)

    ... stomach to produce too much acid. The excess acid then leads to peptic ulcers, as well as to diarrhea and other symptoms. Zollinger-Ellison syndrome (ZES) is rare. The disease may occur at any time in life, but ...

  15. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika


    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  16. Ehlers-Danlos' Syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense


    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  17. Ehlers-Danlos syndrom

    DEFF Research Database (Denmark)

    Leganger, Julie; Søborg, Marie-Louise Kulas; Farholt, Stense


    Ehlers-Danlos syndrome (EDS) comprises a group of diseases characterized by connective tissue fragility. The clinical symptoms primarily involve the skin, joints, blood vessels and internal organs. Diagnosing EDS is complicated because of the clinical variability, imprecise diagnostic criteria...

  18. Restless Legs Syndrome (United States)

    ... and Teens, Men, WomenTags: neurological disorders, restless legs syndrome, RLS, sitting, sleep disorders, sleeping, uncomfortable feeling in legs at rest Family Health, Kids and Teens, Men, Women November ...

  19. Computer Vision Syndrome. (United States)

    Randolph, Susan A


    With the increased use of electronic devices with visual displays, computer vision syndrome is becoming a major public health issue. Improving the visual status of workers using computers results in greater productivity in the workplace and improved visual comfort.

  20. Restless Legs Syndrome (United States)

    ... Benzodiazepines can help individuals who have mild or intermittent symptoms obtain a more restful sleep. However, even ... Page NINDS Sleep Apnea Information Page NINDS Cerebral Hypoxia Information Page NINDS Sjögren's Syndrome Information Page NINDS ...

  1. Monogenic human obesity syndromes

    National Research Council Canada - National Science Library

    Farooqi, I S; O'Rahilly, S


    .... This chapter will consider the human monogenic obesity syndromes that have been characterized to date and discuss how far such observations support the physiological role of these molecules in the regulation of human body weight and neuroendocrine function.

  2. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun


    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.


    African Journals Online (AJOL)


    AFRICAN JOURNAL OF CLINICAL AND EXPERIMENTAL MICROBIOLOGY. JANUARY 2014 ISBN ... documented case of Gut Fermentation Syndrome verified with glucose and .... cerevisiae in Bone Marrow Transplant. Patients,” Journal of ...

  4. Turner Syndrome: Other FAQs (United States)

    ... can cause certain learning challenges, including problems learning mathematics and with memory. 7 Most girls and women ... syndrome usually require care from a variety of specialists throughout their lives. Will she be able to ...

  5. Pellegrini-Stieda syndrome. (United States)

    Wang, J C; Shapiro, M S


    The Pellegrini-Stieda "sign" is commonly seen in patients who have a history of trauma to the medial collateral ligament of the knee. Although most are asymptomatic, a few patients will develop the characteristic Pellegrini-Stieda syndrome, which can be severely limiting. When conservative measures fail, surgical treatment consisting of excision of the bony fragment with careful repair of the medial collateral ligament can eradicate the symptoms. This syndrome is reviewed in detail, and an illustrative case report is included.

  6. Brooke-Spiegler syndrome. (United States)

    Szepietowski, J C; Wasik, F; Szybejko-Machaj, G; Bieniek, A; Schwartz, R A


    The Brooke-Spiegler syndrome is an autosomal dominant one characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. Within a given family, some members may have cylindromas whereas others may have trichoepitheliomas or both. We describe the coexistence of trichoepithelioma papulosum multiplex (also known as epithelioma adenoides cysticum of Brooke) and cylindromas in a 30-year-old man, and discuss the relationship between these two autosomal dominant syndromes.

  7. Abdominal Compartment Syndrome


    Ovchinnikov V.А.; Sokolov V.А.


    We considered one of the most complicated problems of surgery and intensive care — abdominal compartment syndrome. It is a severe, and in some cases lethal complication developing in major injuries and pathology of abdominal cavity and retroperitoneal space, as well as in extra-abdominal pathology. In addition, compartment syndrome can be the complication of a number of surgical procedures accompanied primarily by laparotomy wound closure with tissue tension. We demonstrated the classificatio...

  8. Popliteal artery entrapment syndrome.

    LENUS (Irish Health Repository)

    O'Leary, D P


    Popliteal artery entrapment syndrome is a rare abnormality of the anatomical relationship between the popliteal artery and adjacent muscles or fibrous bands in the popliteal fossa. The following is a case report of a 19 year old female, in whom popliteal artery entrapment syndrome was diagnosed, and successfully treated surgically. A review of literature is also presented and provides details on how PAES is classified, diagnosed both clinically and radiologically, and treated surgically.

  9. Abdominal Compartment Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu


    Full Text Available Intraabdominal hypertension and Abdominal compartment syndrome are causes of morbidity and mortality in critical care patients. Timely diagnosis and treatment may improve organ functions. Intra-abdominal pressure monitoring is vital during evaluation of the patients and in the management algorithms. The incidence, definition and risk factors, clinical presentation, diagnosis and management of intraabdominal hypertension and Abdominal compartment syndrome were reviewed here.

  10. Hypokalemia syndrome in cattle. (United States)

    Sattler, Nicolas; Fecteau, Gilles


    This article describes hypokalemia syndrome. Lactating dairy cows seem to be at the highest risk, but younger animals may also develop the disease. At present, except for animals treated with repeated isoflupredone acetate administration, the exact determinants causing hypokalemia syndrome remain uncertain. Affected animals are anorexic, weak to recumbent, and most often show signs of gastrointestinal stasis. Treatment is directed toward supportive care and oral potassium supplementation.


    Directory of Open Access Journals (Sweden)

    M. Y. Kagan


    Full Text Available Nijmegen breakage syndrome (NBS is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, dysmorphic facial features, combined immunodeficiency and predisposition to malignancies. Due to a founder mutation in the underlying NBN gene (c.657_661del5 the disease is encountered most frequently among Slavic populations. We report on a patient with NBS complicated acute leukemia.

  12. Asperger Syndrome in children

    Directory of Open Access Journals (Sweden)

    Ioannis Koutelekos


    Full Text Available The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992 and afterwards in the DSM-IV (American Psychiatric Organization, 1994. The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim of this particular article that constitutes a case study is the descriptive approach of the Asperger’s Syndrome, through the study of the child behavior.The methodology that was followed in the present case-study was based on inquiring studies and reviews that were drawn from international data bases that correspond to this particular case study of syndrome Asperger in children.Results: The individuals with Asperger’ s syndrome, as well as the case study, tend to experience really big difficulties in elementary social behaviors, as failure in the development and creation of friendly relations or in the search of entertainment activities with others. Moreover, they face difficulties in the comprehension of non verbal communication (body language and the other’s expressions, the body gestures or even the eye contact.Conclusions: The precocious recognition of Asperger’s syndrome is imperative, with final objective the continuous briefing and sensitization of all health professionals, as well as the wider public, toward this syndrome. The earlier a parent foreruns for the diagnosis, the bigger probabilities they stand for a potential functional re-establishment of the syndrome.

  13. Neurocutaneous syndromes; Neurokutane Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Niederstadt, T. [Universitaetsklinikum Muenster (Germany). Inst. fuer Klinische Radiologie; Kurlemann, G. [Muenster Univ. (Germany). Medizinische Fakultaet


    Neurocutaneous Syndromes or phakomatoses are a heterogenous group of congenital diseases. They are characterized by dysplasias of tissues derived from the neuroektoderm. Skin alterations may be helpful in the interpretation of cerebral lesions. Recently, the genetic and pathophysiologic alterations of many phakomatoses have been elucidated. In this paper the radiologic findings and clinical signs of the most common neurocutaneous diseases (Neurofibromatosis 1 and 2, Tuberous Sclerosis Complex and Sturge Weber Syndrome) will be discussed. (orig.)

  14. Nasopalpebral lipoma coloboma syndrome

    Directory of Open Access Journals (Sweden)

    N Suresh Babu


    Full Text Available Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome. Computed tomography scan showed a significantly hypodense lesion on the right side of nose which was confirmed to be a lipoma on histopathological examination. This condition should be included in differential diagnosis of conditions with congenital eyelid coloboma.

  15. Ischemic Bilateral Opercular Syndrome


    Aysel Milanlioglu; Mehmet Nuri Aydın; Alper Gökgül; Mehmet Hamamcı; Mehmet Atilla Erkuzu; Temel Tombul


    Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the...

  16. Unmasking diogenes syndrome

    Directory of Open Access Journals (Sweden)

    Kashinath Nayak


    Full Text Available Diogenes syndrome is characterized by extreme self-neglect, social withdrawal, and poor personal and domestic hygiene. We report a case of Diogenes syndrome presenting with dermatitis passivata. An unusual "mask" of dirt resembling a carapace, onset of neglect after awareness of a breast lump and resumption of personal grooming and social activities after removal of the lump and counseling were seen.

  17. Locked-in syndrome. (United States)

    Sepcić, J; Sepić-Grahovac, D; Strenja-Grubesić, J; Antonelli, L; Andrasević, D


    A patient, young fisherman, with a locked-in syndrome is reported, in whom intact consciousness, quadriplegia of spastic type, voluntary eye blinking, (de)sursumvergence and anarthria were observed. Thrombosis of the basilar artery and slightly disturbed bioelectrogenesis of the cerebral cortex were proved by clinical examination. The patient died after 41 days. At the autopsy thrombosis a. basilaris and ventrobasal pontine infarction were confirmed. Differential diagnosis of this and similar syndromes has been discussed.

  18. Asperger Syndrome in children


    Ioannis Koutelekos; Chrysoula Valamoutopoulou


    The Asperger’s Syndrome is reported in the pervasive developmental disorders and was categorized as a separate disorder, initially in the ICD -10 (World Health Organization, 1992) and afterwards in the DSM-IV (American Psychiatric Organization, 1994). The Asperger’s Syndrome is distinguished by a team of symptoms that concern the low output in the social interaction and the communication dexterities, as well as the increased stereotypical behavior in various activities and interests.The aim o...

  19. Polycystic Ovary Syndrome


    Akula Annapurna


    Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to menstrual cycle changes, cysts in the ovaries, trouble getting pregnant, and other health changes. In PCOS, mature eggs are not released from the ovaries. Instead, they can form very small cysts in the ovary. These changes can contribute to infertility. Common symptoms of PCOS include Menstrual disorders, Infertility, High levels of testosterone and Metabolic syndrome. Obesity, ...

  20. Laugier Hunziker syndrome. (United States)

    Jabbari, Ali; Gonzalez, Mercedes E; Franks, Andrew G; Sanchez, Miguel


    Laugier Hunziker syndrome is a rare disorder that is characterized by adult-onset hyperpigmented macules of the lips, oral cavity, and fingertips. Longitudinal melanonychia is present in the majority of cases. We present a 45-year-old woman with adult-onset hyperpigmented macules of the oral cavity as well as linear melanonychia that involved multiple fingernails. The history, clinical examination, and paucity of laboratory abnormalities or systemic findings support a diagnosis of Laugier Hunziker syndrome.