bluuebunny/crossref_metadata_2025 huggingface dataset:
Osmotic Myelinolysis with Malignant Cerebellar Edema Occurring after DDAVP-Induced Hyponatremia in a Child
Authors: Ranger Adrianna , Szymczak Artur , Levin Simon , Salvadori Marina , Fraser Douglas D.
Published: January 2011

Central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) are dire neurological disorders, characterized by severe damage to the myelin sheath of neurons, which typically result from rapid correction or overcorrection of systemic hyponatremia. For many years, both conditions have been considered universally fatal, though survivors have been reported more recently. Pediatric cases are rare. We present a 13-year-old boy with panhypopituitarism secondary to repair of a nasofrontal encephalocele in infancy, managed on long-term corticosteroid, deamino arginine vasopressin and thyroid hormone. He presented with severe hyponatremia (116 mEq/l), which during correction rapidly and unexpectedly increased to 176 mEq/l, resulting in profoundly impaired consciousness. Brain imaging revealed multiple bilateral changes in the basal ganglia, thalamus, pons and cerebral white matter, consistent with both CPM and EPM. Malignant cerebellar edema necessitated emergent suboccipital craniectomy, with subsequent improvement in level of consciousness and imaging postoperatively. However, he succumbed to acute cardiorespiratory arrest 8 weeks later. Nine similar cases from the literature are reviewed.
Value of Laparoscopic Splenectomy as Salvage Treatment for Relapsed Thrombocytopenia after Partial Splenic Arterial Embolization
Authors: Hashimoto Naotaka , Akahoshi Tomohiko , Tomikawa Morimasa , Kawanaka Hirofumi , Konishi Kozo , Uehara Hideo , Kinjo Nao , Korenaga Daisuke , Takenaka Kenji , Maehara Yoshihiko
Published: January 2011

Background/Aims: Recently, partial splenic arterial embolization (PSE) has become a supportive intervention for cirrhotic patients with hypersplenism in the administration of interferon therapy. However, relapsed thrombocytopenia is often observed in patients following PSE. This study aimed to report the clinical efficiency of laparoscopic splenectomy as a salvage treatment for relapsed thrombocytopenia following PSE. Methods: From 2005 to 2009, 6 patients with prior PSE treatment underwent laparoscopic splenectomy. We reviewed the surgical method of laparoscopic splenectomy and the peri- and postoperative outcomes. Results: Laparoscopic splenectomy effectively provided sufficient increases in patient platelet counts. In all patients, laparoscopic splenectomy was performed safely with no significant complications despite PSE-associated dense adhesion to the diaphragm and/or retroperitoneal attachments. Conclusion: Laparoscopic splenectomy provides a sufficient increase in patient platelet counts in relapsed thrombocytopenia following PSE. Therefore, laparoscopic splenectomy appears to be a superior supportive therapy for the treatment of thrombocytopenia in cirrhotic patients.
Glomerular Podocytes Express Type 1 Adenylate Cyclase: Inactivation Results in Susceptibility to Proteinuria
Authors: Xiao Zhijie , He Liqun , Takemoto Minoru , Jalanko Hannu , Chan Guy C. , Storm Daniel R. , Betsholtz Christer , Tryggvason Karl , Patrakka Jaakko
Published: January 2011

Background/Aims: The organization of actin cytoskeleton in podocyte foot processes plays a critical role in the maintenance of the glomerular filtration barrier. The cAMP pathway is an important regulator of the actin network assembly in cells. However, the role of the cAMP pathway in podocytes is not well understood. Type 1 adenylate cyclase (Adcy1), previously thought to be specific for neuronal tissue, is a member of the family of enzymes that catalyses the formation of cAMP. In this study, we characterized the expression and role of Adcy1 in the kidney. Methods: Expression of Adcy1 was studied by RT-PCR, Northern blotting and in situ hybridization. The role of Adcy1 in podocytes was investigated by analyzing Adcy1 knockout mice (Adcy1–/–). Results and Conclusion: Adcy1 is expressed in the kidney specifically by podocytes. In the kidney, Adcy1 does not have a critical role in normal physiological functioning as kidney histology and function are normal in Adcy1–/– mice. However, albumin overload resulted in severe albuminuria in Adcy1–/– mice, whereas wild-type control mice showed only mild albumin leakage to urine. In conclusion, we have identified Adcy1 as a novel podocyte signaling protein that seems to have a role in compensatory physiological processes in the glomerulus.
A New Method for Intraluminal Gastrointestinal Stromal Tumor Resection Using Laparoscopic Seromuscular Dissection Technique
Authors: Tanabe Kazuaki , Urabe Yuji , Tokumoto Noriaki , Suzuki Takahisa , Yamamoto Hideki , Oka Shiro , Tanaka Shinji , Ohdan Hideki
Published: January 2011

Introduction: It is difficult to confirm the location of an intraluminal gastrointestinal stromal tumor (GIST) and to laparoscopically determine the appropriate resection line. We report a new technique for the resection of GISTs using the laparoscopic seromuscular dissection (LSD) technique, which can be preformed regardless of the tumor location. Methods: Since 2009, 5 patients have undergone LSD technique for the resection of an intraluminal GIST. The tumor location was confirmed endoscopically, and the exact resection line was marked laparoscopically. After 10% glycerin was injected into the submucosal layer, LSD was performed circumferentially. The tumor was exteriorized into the abdominal cavity and dissected using a linear stapling device. Results: The average operation time for this procedure was 134.4 ± 18.6 min, and the mean estimated blood loss was 10 ± 8.9 ml. None of the 5 cases required open surgery. There was no tumor rupture or disruption or any other perioperative complications using this technique. Conclusion: We conclude that the LSD technique may be a safe and minimally invasive method for the resection of intraluminal GISTs, regardless of the tumor location.
Characterisation of the Human ADAM15 Promoter
Authors: Khammas Hassan , Bowen Timothy , Williams John David , Phillips Aled Owain , Steadman Robert , Martin John
Published: January 2011

Background: ADAM15 is a membrane-bound member of the adamalysin family that is up-regulated in areas of tissue remodelling. Previous studies have demonstrated the role of ADAM15 in mesangial cell migration, which is integral in tissue remodelling in pathology and repair. The current study was designed to identify and analyse the genomic regions upstream of ADAM15 that would regulate its transcription. Methods: Using 5′-RACE and RT-PCR, the ADAM15 5′-UTR was extended and luciferase constructs assembled to examine the transcription start site and characterise the promoter region of this gene. Results: A 145-bp proximal promoter construct showed full activity in unstimulated cells. Analysis of this region identified three potential Sp1-binding sites. Electromobility and supershift assays confirmed that Sp1 was constitutively present in MC nuclei. Mutations in each Sp1 site confirmed each was needed for full activity, while mutation of all three sites abrogated luciferase activity demonstrating that Sp1 was involved in the promoter activity of ADAM15. Methylation of this promoter fragment abolished the activity, while the methyltransferase inhibitor 5-aza-3′-deoxycytidine showed no increased activity in transfected cells, implying that the promoter was not methylated in our cells. Conclusion: These results demonstrate the intrinsic promoter activity of ADAM15 in quiescent MC and show the involvement of Sp1 in its regulation.
A Unique Pattern of Intracranial Pressure in a Patient with Traumatic Paroxysmal Sympathetic Storm
Authors: Woo Hyun Jin , Park Seong Hyun , Hwang Sung Kyoo
Published: January 2011

Paroxysmal sympathetic storm (PSS), or diencephalic seizure, usually appears in patients with severe traumatic brain injury and is characterized by various sympathetic symptoms. The physiological effects of this syndrome are not well studied. The authors monitored intracranial pressure (ICP) in a patient with PSS and reviewed its impact on the physiology and management of the syndrome. A 12-year-old male patient was involved in a traffic accident. Upon arrival at the emergency room, his Glasgow Coma Scale score was 5 and he showed decerebration. A brain CT showed an intracerebral hematoma in the right basal ganglia, at which point craniotomy and removal of the hematoma were performed. Continuous intracranial monitoring was performed using the fiber-optic intraparenchymal method. Beginning the day after the trauma, the patient began exhibiting sympathetic symptoms including intermittent episodes of fever, tachycardia, increased blood pressure, tachypnea, diaphoresis and decerebrate rigidity. These episodes were accompanied by ICP elevation of greater than 20 mm Hg. ICP was decreased during hyperventilation, and the episodic symptoms subsided as ICP normalized. PaCO2 was periodically altered in association with hyperventilation. Electroencephalogram did not show epileptiform discharges, and the sympathetic spells were aborted by continuous intravenous midazolam infusion. The authors report on a pattern of ICP monitoring in association with PSS. Traumatic PSS should be recognized in the appropriate setting to prevent secondary brain damage.
Clinical Associations of Deliberate Self-Injury and Its Impact on the Outcome of Community-Based and Long-Term Inpatient Treatment for Personality Disorder
Authors: Chiesa Marco , Sharp Rachel , Fonagy Peter
Published: January 2011

Background: Deliberate self-injury (DSI) is significantly associated with personality disorder (PD). There are gaps in our knowledge of DSI as an indicator of severity of psychopathology, as moderator of outcome and with regard to its response to different treatment programs and settings. Methods: We compare 2 samples of PD with (n = 59) and without (n = 64) DSI in terms of clinical presentation, response to psychosocial treatment and relative outcome when treated with specialist long-term residential and community-based programs. We test the assumption that DSI is an appropriate indicator for long-term inpatient care by contrasting the outcomes (symptom severity and DSI recidivism) of the 2 DSI sub-groups treated in the 2 different approaches. Results: PD with DSI had greater severity of presentation on a number of variables (early maternal separation, sexual abuse, axis-I comorbidities, suicidality and inpatient episodes) than PD without DSI. With regard to treatment response, we found a significant 3-way interaction between DSI, treatment model and outcome at 24-month follow-up. PD with DSI treated in a community-based program have significantly greater chances of improving on symptom severity and recidivism of self-injurious behaviour compared to PD with DSI treated in a long-term residential program. Conclusions: Although limitations in the study design invite caution in interpreting the results, the poor outcome of the inpatient DSI group suggests that explicit protocols for the management of DSI in inpatient settings may be beneficial and that the clinical indications for long-term inpatient treatment for severe and non-severe PD may require updating.
Di-Nucleotide Repeat Polymorphisms of the Insulin-Like Growth Factor-1 Gene and Their Association with IGF-1, Insulin-Like Growth Factor-Binding Protein-1 and Birth Size in a Sri-Lankan Cohort
Authors: Jayanthiny P. , Tennekoon K.H. , Karunanayake E.H. , Kumarasiri J.M. , Wijesundera A.P.D.S.
Published: January 2011

Background: Insulin-like growth factor (IGF)-I is implicated in fetal growth. Ethnic variations of IGF-1 have also been suggested. Di-nucleotide repeat polymorphisms of the IGF-1 gene or their association with IGF-1 levels and birth size have not been studied in Sri Lankans. Objectives: To describe IGF-1 di-nucleotide repeat polymorphisms and their association with IGF-1 and IGF-binding protein (IGFBP)-1 levels and birth size in a cohort of Sri Lankans. Methods: A cross-sectional study on 200 mother-newborn pairs was carried out. Maternal and cord blood levels of IGF-1 and IGFBP-1 were measured by enzyme-linked immunosorbent assay. Three di-nucleotide repeat polymorphisms of the IGF-1 gene [cytosine-adenine (CA) repeats in the promoter and 3′ regions and intron 2 cytosine-thymine (CT) repeat] were studied using PCR amplification and fragment analysis. Results:Cord blood IGFBP-1 levels correlated negatively with birth weight (p < 0.01) and crown-heel length (p < 0.05). Wild-type alleles of the CA repeat polymorphisms differed from those reported in other populations. Newborn and maternal intron 2 CT repeat polymorphism showed a significant effect on birth weight (p < 0.01 and p < 0.001, respectively), crown-heel length (p < 0.01) and head circumference (p < 0.01 and p < 0.05, respectively). Promoter region CA repeat polymorphism and intron 2 CT repeat polymorphism in the newborns were significantly (p < 0.05) associated with cord blood IGF-1 levels. Almost all these effects were limited to primiparous pregnancies. Conclusions: In Sri Lankans intron 2 CT repeat polymorphism of the IGF-1 gene appears to be a significant contributor to IGF-1 levels and birth size in primiparous pregnancies.
Health Effects on Leaders and Co-Workers of an Art-Based Leadership Development Program
Authors: Romanowska Julia , Larsson Gerry , Eriksson Maria , Wikström Britt-Maj , Westerlund Hugo , Theorell Töres
Published: January 2011

Background: There are very few evaluations of the effectiveness of leadership development programs. The purpose of the study was to examine whether an art-based leadership program may have a more beneficial effect than a conventional one on leaders’ and their corresponding subordinates’ mental and biological stress. Methods:Participating leaders were randomized to 2 year-long leadership programs, 1 art-based and 1 conventional, with follow-up of the leaders and their subordinates at 12 and 18 months. The art-based program built on an experimental theatre form, a collage of literary text and music, followed by writing and discussions focused on existential and ethical problems. Results: After 18 months a pattern was clearly visible with advantage for the art-based group. In the art group (leaders and their subordinates together as well as for subordinates only) compared to the conventional group, there was a significant improvement of mental health, covert coping and performance-based self-esteem as well as significantly less winter/fall deterioration in the serum concentration of the regenerative/anabolic hormone dehydroepiandrosterone-sulfate. Conclusions:Our findings indicate a more beneficial long-term health effect of the art-based intervention compared to a conventional approach. Positive results for both standardized questionnaires and biological parameters strengthened the findings. The study provides a rationale for further evaluation of the effectiveness of this alternative educational approach.
Reorganization of Sensorimotor Function after Functional Hemispherectomy Studied Using Near-Infrared Spectroscopy
Authors: Honda Noritsugu , Matuoka Toshiki , Sawada Yuko , Nakano Naoki , Suwen Lin , Higashimoto Yuji , Fukuda Kanji , Ohgi Shohei , Kato Amami
Published: January 2011

Hemimegalencephaly is a rare congenital disease that occurs with intractable epilepsy and is a childhood developmental disorder. A functional hemispherectomy is indicated for the treatment of hemimegalencephaly with intractable epilepsy. We present a case of hemimegalencephaly in a 6-month-old male. After hemispherectomy, his seizures disappeared completely and postoperative neurological examination showed right hemiplegia. His right arm and limb function were recovered gradually by rehabilitation with passive movement. We investigated cortical activation using near-infrared spectroscopy (NIRS). Serial NIRS showed right cortical activation by passive movement of his right arm. We suggest that NIRS showed the ipsilateral reorganization process as an effect of neurorehabilitation for disconnection of the brain.
The Effect of Revascularization of Atherosclerotic Renal Artery Stenosis on Coronary Flow Reserve and Peripheral Endothelial Function
Authors: Koivuviita N. , Tertti R. , Luotolahti M. , Raitakari O. , Vahlberg T. , Nuutila P. , Knuuti J. , Metsärinne K.
Published: January 2011

Background: Patients with atherosclerotic renovascular disease (ARVD) are at increased risk of heart disease because of associated hypertension, coronary artery disease, cardiac failure and chronic kidney disease. Although suggested to be beneficial, the cardiac effects of renal artery revascularization have not been well characterized. Our aim was to analyze the effects of percutaneous dilatation of renal artery stenosis (RAS) in ARVD patients on coronary and peripheral vascular function. Methods: Nineteen ARVD patients [11 females and 8 males, age at study entry (mean ± SD) 69 ± 10 years] were treated by dilatation of unilateral (n = 9) or bilateral (n = 10) RAS, mainly because of uncontrolled or refractory hypertension. The patients were studied before and after the procedure (103 ± 29 days). They underwent echocardiography and peripheral artery endothelial function testing using flow-mediated dilatation (FMD) of brachial artery at rest and during reactive hyperemia. Myocardial blood flow was measured using quantitative PET perfusion imaging at baseline and during dipyridamole-induced hyperemia. Results: Peripheral endothelial function, tested by FMD, as well as systolic blood pressure and left ventricular mass were improved in patients with bilateral RAS. However, myocardial perfusion and coronary flow reserve (CFR) did not change after the RAS dilatation. Conclusion: This is the first study to analyze the stage of myocardial perfusion and CFR in ARVD patients. Although peripheral endothelial function, systolic blood pressure and left ventricular hypertrophy were improved in patients with bilateral RAS by revascularization of RAS, it did not have any effect on coronary perfusion.
Incidental Resolution of a Radiation-Induced Cavernous Hemangioma of the Brain following the Use of Bevacizumab in a Child with Recurrent Medulloblastoma
Authors: Aguilera Dolly , Tomita Tadanori , Goldman Stewart , Fangusaro Jason
Published: January 2011

Radiation-induced cavernous hemangiomas (RICH) are a known complication of radiation exposure, especially in young children. The current treatment approaches to these lesions include observation and surgical resection. We report the case of a 4-year-old male with recurrent medulloblastoma who had resolution of an incidental RICH lesion while being treated with bevacizumab for his recurrent brain tumor. There was no evidence of worsening hemorrhage with this therapy and the RICH did not recur upon discontinuation of the chemotherapy regimen. This is the first documented case of a RICH lesion responding to antiangiogenic therapy, suggesting the possible use of this class of agents in the treatment of symptomatic patients who are not considered appropriate candidates for surgical resection. Although the risk of bleeding must be taken into consideration, antiangiogenic therapies have the potential to be a novel treatment modality for symptomatic RICH lesions.
Identification of a Novel WNK4 Mutation in Chinese Patients with Pseudohypoaldosteronism Type II
Authors: Zhang Chong , Wang Zhaohui , Xie Jingyuan , Yan Fuhong , Wang Weiming , Feng Xiaobei , Zhang Wen , Chen Nan
Published: January 2011

Background: It has been reported that mutations in WNK1 and WNK4 cause pseudohypoaldosteronism type II (PHA2), an autosomal dominant renal disease. WNK kinase proteins are expressed in the kidney and regulate ion transport including the thiazide-sensitive sodium chloride cotransporter (NCC). In this report, we screened 4 Chinese PHA2 pedigrees for WNK4 mutations, identified a novel mutation, and studied its effects on NCC protein trafficking in vitro. Methods: The patients’ genomic DNA was extracted from peripheral leukocytes. Sequence analysis was performed by PCR amplification of the 19 exons of WNK4. The wild-type or mutant WNK4 was coexpressed with NCC in HEK293 cells. We measured the effect of wild-type WNK4 compared to the mutant WNK4 on NCC protein surface expression. Results: A novel missense mutation in WNK4, K1169E, was identified in 1 of the 4 pedigrees. Analysis of confocal images showed that K1169E lost its inhibitory effect on NCC surface expression compared to wild-type WNK4 when expressed in HEK293 cells, while it did not change NCC total protein expression. Conclusions: We identified an unreported disease-causing WNK4 missense mutation, K1169E, in 1 Chinese PHA2 pedigree. This mutation appears to be a ‘loss of function’ of NCC inhibition and suggests that some important functional roles lie in the 2nd coiled-coil domain of WNK4.
Long-Term Outcomes after Laparoscopic Nissen Fundoplication for Reflux Laryngitis
Authors: Salminen P. , Karvonen J. , Ovaska J.
Published: January 2011

Background: The surgical treatment of gastroesophageal reflux-induced reflux laryngitis remains controversial. The aim of this study was to determine both long-term objective endoscopic findings and subjective symptomatic outcomes after laparoscopic Nissen fundoplication in patients operated on for reflux laryngitis. Methods: 40 consecutive patients with pH-proven reflux laryngitis underwent laparoscopic Nissen fundoplication between 1998 and 2002. 68% (n = 27) of these patients underwent an endoscopic evaluation and 90% (n = 36) were available for the subjective long-term outcome (personal interviews). Results: At a median follow-up of 91 months there were no disrupted plications, none of the patients had esophagitis but 3 recurrent hiatal hernias were detected. 61% of the patients reported no or only mild reflux laryngitis symptoms postoperatively and 69% of the patients evaluated their voice quality improved after surgery. 94% of the patients were satisfied with their surgical result. With benefit of hindsight, 11% of the patients would not choose surgical treatment and 42% had reinitiated antireflux medications postoperatively. Conclusion: The majority of pH-proven gastroesophageal reflux-induced reflux laryngitis patients attain long-term symptomatic benefit and satisfaction on the surgical outcome, and with proper patient selection laparoscopic Nissen fundoplication provides a feasible long-term treatment option for reflux laryngitis.
Circular Stapler-Assisted Extraperitoneal Colostomy
Authors: Wang Ju , Dou Zhongxia , Wang Tianfu , Liu Dan , Wang Lei
Published: January 2011

Aims: To report and evaluate the clinical value of circular stapler-assisted extraperitoneal colostomy. Methods: We performed circular stapler-assisted extraperitoneal colostomy following Miles’ operation in 22 patients over a 2-year period from March 2007 to March 2009. The efficiency and safety of the operation were evaluated. Results: The length of surgery was 15 ± 5 min, and all the colostomies were successfully completed during the first procedure. No complications such as anastomotic infections, hemorrhage, necrosis, or invagination occurred after surgery. No scar contraction, stoma stenoses, intestinal obstructions, or parastomal hernias were found during the follow-up period of 24–72 months. All the colostomies functioned well. Conclusion: Circular stapler-assisted extraperitoneal colostomy can be a safe and effective procedure to improve the outcome of surgery for rectal cancer. This is one of the few studies attempting stapled colostomy, and at present the technique appears promising but warrants a longer follow-up period and additional study, in particular a prospective trial including a control group.
Evidence-Based and Evidence-Inspired: An Intergenerational Approach in the Promotion of Balance and Strength for Fall Prevention
Authors: Granacher Urs , Muehlbauer Thomas , Gollhofer Albert , Kressig Reto W. , Zahner Lukas
Published: January 2011

The risk of sustaining a fall and fall-related injuries is particularly high in children and seniors, which is why there is a need to develop fall-preventive intervention programs. An intergenerational approach in balance and strength promotion appears to have great potential because it is specifically tailored to the physical, social and behavioural needs of children and seniors. Burtscher and Kopp [Gerontology, DOI: 10.1159/000322930] raised the question whether our previously published mini-review is evidence-based or evidence-inspired. These authors postulate that we did not follow a 4-stage conceptual model for the development of injury and/or fall-preventive intervention programs. In response to this criticism, we present information from the mini-review that comply with the 4-stage model incorporating evidence-based and evidence-inspired components. We additionally provide information on how to implement an intergenerational balance and resistance training approach in a school setting based on a study that is being currently conducted.
Macroorchidism and Panhypopituitarism: Two Different Forms of Presentation of FSH-Secreting Pituitary Adenomas in Adolescence
Authors: Clemente María , Caracseghi Fabiola , Gussinyer Miquel , Yeste Diego , Albisu Marian , Vázquez Elida , Ortega Arantxa , Carrascosa Antonio
Published: January 2011

Background: FSH-secreting pituitary adenomas are extremely rare in children and are seldom associated with clinical manifestations of high serum gonadotrophin levels. Thus, most patients have a late presentation, usually as macroadenomas. Case Reports: Two different clinical forms of presentation of FSH-secreting pituitary adenomas are reported: one in a 12-year-old boy with macroorchidism due to a pituitary microadenoma, probably FSH-secreting, and the other in a 15-year-old boy with panhypopituitarism due to an FSH-producing macroadenoma. Both patients presented slightly high or high FSH with low LH and high inhibin B levels. In the first case, the microadenoma was treated medically with cabergoline, which failed to reduce FSH and inhibin B levels. No radiological progression has been observed despite increasing testicular volume. In the second case, surgery was performed on the macroadenoma, leading to a decrease in FSH and inhibin B levels. The patient developed severe hypothalamic obesity and is currently under treatment with somatostatin. Conclusions: FSH-secreting pituitary tumors have an extremely variable clinical expression. The discrepancy between normal or slightly increased FSH and low LH values, together with high inhibin B levels, strongly suggests FSH hypersecretion which should be studied.
ADAMTS-13 Antigen and Activity Levels in Thrombocytopenic Disorders Including Thrombotic Thrombocytopenic Purpura in Kuwait
Authors: Al-Awadhi A.M. , Jadaon M.M. , Al-Jafar H.A. , Al-Wazzan H.J.
Published: January 2011

Background/Aims: While deficiency of a disintegrin and metalloprotease with thrombospondin-1-like domains (ADAMTS-13) was reported as the basis for the pathogenesis of thrombotic thrombocytopenic purpura (TTP), low levels have also been found in other thrombocytopenic disorders. This study was conducted to characterize the activity and antigen levels of ADAMTS-13 and von Willebrand factor (vWF) in patients with different thrombocytopenic disorders in Kuwait. Methods: Forty healthy subjects and 41 patients with different thrombocytopenic disorders were recruited for this study. ELISA tests were used to measure ADAMTS-13 and vWF activity and antigen levels in patients and controls. Results: All TTP patients had severely deficient ADAMTS-13 activity (<5%), which was significantly lower than that of controls (p < 0.001). Severe deficiency of ADAMTS-13 was also found in some, but not all, patients with idiopathic thrombocytopenic purpura, acute leukemia and sepsis. Conclusions: This study is the first to report ADAMTS-13 levels in this part of the world. ADAMTS-13 was found to be severely deficient in TTP patients. We present evidence that significantly lower levels of ADAMTS-13 were not specific for TTP and can be found in other thrombocytopenic disorders. We also hypothesize that clinical manifestation of TTP may not be solely due to ADAMTS-13 deficiency, and there might be other contributing factors, since the deficiency was also found in some healthy controls.
Acute Kidney Infarction Secondary to Intracardiac Thrombus Embolization in a Patient with Ischemic Dilated Cardiomyopathy
Authors: Can Mehmet Mustafa , Tanboğa İbrahim Halil , Demircan Hacer Ceren , Özkan Alper , Koca Fatih , Keleş Nurşen , Sönmez Kenan , Kaymaz Cihangir , Serebruany Victor
Published: January 2011

Acute renal infarction due to emboli represents a very rare but significant threat for kidney loss, and the clinical presentation is challenging. The differential diagnosis of massive renal thrombi includes all other causes of abdominal pain, and they can be easily misdiagnosed as renal colic due to nephrolithiasis. Although there are a few case reports regarding the possibility that cardiac emboli may cause acute kidney infarction, intracardiac thrombi within the ventricular cavity diagnosed by echocardiography as a cause of such renal artery occlusion have never been reported in patients with cardiomyopathy. Herein, we describe a 39-year-old male with a history of ischemic dilated cardiomyopathy. He was admitted to our hospital with left upper abdominal pain and vomiting. After serial examinations and tests, the diagnosis of acute renal infarction due to intracardiac thrombus embolization as a result of severely reduced cardiac function was made.
Sigma1 Receptor Antagonist BD1047 Enhances Reversal of Conditioned Place Preference from Cocaine to Social Interaction
Authors: Fritz Michael , Klement Sabine , El Rawas Rana , Saria Alois , Zernig Gerald
Published: January 2011

We have previously shown that only four 15-min social interaction episodes with a male adult conspecific reversed cocaine conditioned place preference (CPP) even despite continuing CPP training with cocaine. In the present study, we investigated if BD1047, a sigma1 receptor antagonist that has been shown to inhibit the expression of cocaine CPP, is able to enhance this effect. BD1047, given as a 10-min pretreatment, dose-dependently (ED50 of 0.0036 mg/kg i.p.) decreased the time spent in the previously cocaine-associated compartment in favour of the time spent in the compartment in which a single social interaction had taken place. Our findings indicate that sigma1 blockade may be used therapeutically to enhance treatment adherence in social interaction-based rehabilitation programs.
Homozygosity for the c.917A → T (p.N306l) Polymorphism in the EVER2/TMC8 Gene of Two Sisters with Epidermodysplasia Verruciformis Lewandowsky-Lutz Originally Described by Wilhelm Lutz
Authors: Arnold Andreas W. , Burger Bettina , Kump Erwin , Rufle Alexander , Tyring Stephen K. , Kempf Werner , Häusermann Peter , Itin Peter H.
Published: January 2011

Background: Epidermodysplasia verruciformis Lewandowsky-Lutz (EV) is a rare genodermatosis, characterised by development of numerous verrucous skin lesions caused by specific genotypes of human papillomaviruses belonging to the β-papillomavirus genus. The EV loci were mapped to chromosome 2p21–p24 (EV2) and 17q25 (EV1). On chromosome 17, 2 adjacent related genes – EVER1/TMC6 and EVER2/TMC8 – were identified. We reinvestigated 2 patients originally described by Wilhelm Lutz in 1946 with the aim to document the natural course of the disease and confirm his diagnosis. Methods: PCR fragments specific for exons with short flanking intron sequences of EVER1/TMC6 and EVER2/TMC8 genes from patients’ DNA were amplified using sequence information. The single-nucleotide polymorphism (SNP) rs7208422 was studied, using restriction fragment length polymorphism analysis. Results: In the index patient, we identified a homozygous TT genotype in exon 8 of the EVER2/TMC8 gene (c.917A → T, p.N306I). The same mutation could thereafter be detected in her sister from paraffin-embedded skin. Conclusion: We have followed one of the first patients described with EV in Basel, Switzerland, in 1930 until today and demonstrated the TT genotype (SNP rs7208422) in the EVER2/TMC8 gene in this index patient and her sister. The results underline the possible relevance of SNP rs7208422 by influencing the susceptibility to β-papillomaviruses and their oncogenic potential.
Clinicopathologic Characteristics of CD99-Positive Diffuse Large B-Cell Lymphoma
Authors: Lee Sang Pyo , Park Sanghui , Park Jinny , Hong Junshik , Ko Young Hyeh
Published: January 2011

Background: CD99 immunoreactivity has been documented in a variety of tumors, including lymphoid malignancies such as anaplastic large-cell lymphomas. However, few studies have investigated the prognostic impact of CD99 in diffuse large B-cell lymphoma (DLBCL). Methods: Using conventional paraffin embedding, immunoperoxidase staining and tissue microarrays, we retrospectively investigated CD99 expression in 155 DLBCL patients. Results: Of the 155 DLBCL patients, 60 (38.7%) were positive for CD99. CD99 positivity was significantly associated with advanced stage (p < 0.01), higher risk group according to the International Prognostic Index risk score (p < 0.01) and non-germinal center B cell-like type (p = 0.01). The difference in progression-free survival (PFS) between CD99+ and CD99– groups was statistically significant (p = 0.04), even though the difference in overall survival was not (p = 0.74). Multivariate analysis demonstrated that CD99 expression was marginally correlated with PFS. Conclusion: To the best of our knowledge, this is the first report on the clinicopathologic characteristics of CD99+ DLBCL, particularly unique clinicopathologic features.
Aberrant Methylation of Death-Associated Protein Kinase 1 CpG Islands in Myelodysplastic Syndromes
Authors: Wu Xueqiong , Liu Wenli , Tian Ye , Xiao Min , Wu Ying , Li Chunrui
Published: January 2011

Death-associated protein kinase 1 (DAPK1), a proapoptotic serine/threonine kinase, is a candidate tumor suppressor gene. We studied the methylation status of the promoter region of the DAPK1 gene and the expression of the DAPK1 protein in 78 bone marrow samples from untreated patients with myelodysplastic syndrome (MDS) by PCR and Western blot analysis. Hypermethylation of DAPK1 was present in 42.3% (33 of 78) of MDS specimens and was significantly correlated with the loss of DAPK1 mRNA and protein expression (p < 0.01). There were no significant differences in methylation frequency among subgroup of MDS. DAPK1 hypermethylation in MDS was associated with the presence of cytogenetic abnormalities in the bone marrow at the time of the initial diagnosis. A higher frequency of DAPK1 hypermethylation was found in the unfavorable cytogenetic risk group (12 of 21 cases; 57.1%) compared to the favorable cytogenetic risk group (5 of 20 cases; 25.0%, p = 0.0368). These findings suggest that suppression of DAPK1 expression by DNA methylation may play a substantial role in the development of MDS.
Fournier’s Gangrene: Series of Twenty Patients
Authors: Simsek Celik A. , Erdem H. , Guzey D. , Celebi F. , Birol S. , Erozgen F. , Kaplan R.
Published: January 2011

Background and Purpose: Fournier’s gangrene (FG) is a rare, rapidly progressive, fulminant form of necrotizing fasciitis of the genital, perianal and perineal regions. Our aim is to investigate the clinical signs, symptoms and factors which affect the clinical results of patients with FG in our clinic. Patients and Methods: 20 patients having FG were admitted to our department during the past 6-year period. Age, gender, diabetes mellitus (DM), duration of symptoms, FG severity index score (FGSIS), colostomy, hospitalization time and number of debridements were investigated for their effects. Results: 13 of our patients were male, 7 of them were female. The mean age was 52.2 years (range: 30–80 years). 85% of our patients had DM as a predisposing factor. The mean hospitalization time was 19.7 days (range: 6–45 days), and overall mortality was 20% (4 patients). Age and FGSIS have been found to be statistically significant factors among the parameters studied. Discussion: FG is still an important disease with high mortality rates in spite of the developments in intensive care units and new-generation antibiotics. In conclusion, we have found that the age and FGSIS of the patient are the most important effecting factors.
COL7A1 Recessive Mutations in Two Siblings with Distinct Subtypes of Dystrophic Epidermolysis Bullosa: Pruriginosa versus Nails Only
Authors: Pruneddu Sara , Castiglia Daniele , Floriddia Giovanna , Cottoni Francesca , Zambruno Giovanna
Published: January 2011

Dystrophic epidermolysis bullosa (DEB) is a rare, clinically heterogeneous, blistering genodermatosis inherited as either autosomal dominant or recessive trait. All DEB forms are caused by mutations in the COL7A1 gene, which encodes for type VII collagen, the major component of the anchoring fibrils ensuring epithelial-mesenchymal adhesion. Major determinants of clinical heterogeneity in DEB are COL7A1 mutation types and their consequences at mRNA and protein levels; nevertheless, siblings with the same genetic alterations can manifest highly variable clinical signs. Here, we report novel compound heterozygous recessive COL7A1 missense mutations in 2 siblings presenting different DEB clinical subtypes. Our findings document the rare occurrence of recessive inheritance for the nails only DEB variant and emphasize the role of acquired phenotype-modifying factors in DEB pruriginosa pathogenesis.
Factors Associated with Premature Skin Aging (Photoaging) before the Age of 55: A Population-Based Study
Authors: Green A.C. , Hughes M.C.B. , McBride P. , Fourtanier A.
Published: January 2011

Background: Precise factors associated with premature skin aging, or photoaging, in the general population are unknown. Objective: To examine the risk factors for photoaging in a Queensland community. Methods: A cross-sectional study of 1,400 randomly selected residents aged 20–54 years, using casts of the back of the hand (surface microtopography) and dermatological assessment of photoaging. Results: 83% of the participants had premature skin aging, worsening after the age of 30. Severe neck wrinkling was 3 times more likely in men and some 4 times more likely in fair-skinned people (odds ratio, OR = 3.86, 95% confidence interval, CI = 2.40–6.23). Red hair and mainly outdoor work or leisure raised the odds of microtopographic photoaging. Current smoking was strongly associated with facial comedones and telangiectasia, and among current smokers, the microtopography grade was significantly associated with moderate and heavy smoking measured by pack-years of exposure, with OR = 3.18 (95% CI = 1.38–7.35) in the heaviest (>20 pack-years) smoking category compared with 1–7 pack-years. Conclusions: Premature skin aging is common in the subtropics, more severe in men and the fair-skinned. It is associated with high sun exposure during leisure or work, and moderate to heavy smoking, and therefore is preventable.
Infection-Mediated Vasoactive Peptides Modulate Cochlear Uptake of Fluorescent Gentamicin
Authors: Koo Ja-Won , Wang Qi , Steyger Peter S.
Published: January 2011

Inflammatory mediators released during bacterial infection include vasoactive peptides such as histamine and serotonin, and their serum levels are frequently elevated. These peptides also modulate the vascular permeability of endothelial cells lining the blood-brain and blood-labyrinth barriers (BLB). These peptides may also modulate the permeability of the BLB to ototoxic aminoglycoside antibiotics prescribed to resolve bacterial sepsis. To test this hypothesis, we compared the effect of histamine and serotonin on the cochlear distribution of fluorescently conjugated gentamicin (GTTR) in control animals at 0.5, 1 and 3 h after injection of GTTR. The intensity of GTTR fluorescence was attenuated at 1 h in the histamine group compared to control mice, and more intense 3 h after injection (p < 0.05). In the serotonin group, the intensity of GTTR fluorescence was attenuated at 0.5 and 1 h (p < 0.05) and was increased at 3 h compared to control animals, where GTTR intensities peaked at 1 h and then plateaued or was slightly decreased at 3 h. This biphasic pattern of modulation was statistically significant in the apical turn of the cochlea. No difference in the intensity of GTTR fluorescence was observed in kidney proximal tubules. Systemic increases in serum levels of vasoactive peptides can modulate cochlear uptake of gentamicin, likely via permeability changes in the BLB. Conditions that influence serum levels of vasoactive peptides may potentiate aminoglycoside ototoxicity.
Physician “Costs” in Providing Behavioral Health in Primary Care
Authors: Meadows Tawnya , Valleley Rachel , Haack Mary Kelly , Thorson Ryan , Evans Joseph
Published: January 2011

Objective: To examine pediatricians time spent, and resulting reimbursement payments for, addressing behavioral health concerns in a rural primary care pediatric practice. Methods: Research assistants observed 228 patient visits in a rural pediatric primary care office. The length of the visit (in minutes), content of visit, number and type of codes billed, and related insurance reimbursement amounts were recorded. Interrater reliability, scored for 22% of patient visits, was ≥90%. Results: Medical only visits lasted, on average, 8 minutes as compared with behavioral only visits that required nearly 20 minutes of physician time. Pediatricians billed up to 10 different billing codes for medical only visits but only billed 1 code for behavioral only visits. Consequently, pediatricians were reimbursed significantly less, per minute, for behavioral only visits as compared with those sessions addressing medical only or a combination of medical and behavior concerns. Conclusion: Findings converge with previous research, demonstrating that behavioral health concerns dramatically affect the length of visit for primary care physicians. Moreover, this study is the first to document the specific impact of such concerns on pediatrician reimbursement for providing behavioral services. These results provide further support for integrating behavioral health services into pediatric primary care settings, thus allowing physicians to refer more difficult patients with behavioral issues to in-house collaborating behavioral health providers who can spend additional time necessary to address the behavioral health issue and who are licensed to receive mental health reimbursement.
Comparing Multipliers from Survey and Non-Survey Based IO Models
Authors: Stoeckl Natalie
Published: January 2011

This article compares ninety different multiplier estimates derived from non-survey Input–Output (IO) tables with those derived from a novel survey approach. It finds that, on average, the estimates are surprisingly similar, indicating that the survey-based approach may be a cost-effective technique for generating multiplier estimates. Where differences do exist, it finds that differences in production technologies are a more important source of differences in multipliers than are differences in import propensities. This suggests that those who regionalize national IO tables may not just need to allow for differences in the propensity of sectors to import; they may also need to allow for differences in production technologies—particularly if regionalizing IO tables that have been developed in relatively urban areas for use in rural or remote locales such as those considered here.
Market Coverage and Service Quality in Digital Subscriber Lines Infrastructure Planning
Authors: Grubesic Tony H. , Matisziw Timothy C. , Murray Alan T.
Published: January 2011

Digital subscriber lines (xDSL) belong to a family of technologies that provide the ability to transmit digital data over local telephone (copper) infrastructure. As the second most popular broadband platform in the United States, it is estimated that over twenty-five million xDSL lines are in service, capturing nearly 30 percent of the U.S. broadband market. While the service range of xDSL is somewhat limited, often extending to a maximum of 18,000 feet from a central office (CO), available bandwidth also decays as distance increases from the CO. As a result, there are often marked disparities in the quality of xDSL service within market areas. This article proposes a bi-objective location model for maximizing both service coverage and quality of coverage in siting digital subscriber line access multiplexers (DSLAMs). An application of the developed model highlights important implications for telecommunication policy.
Economic Structure and Regional Disparity in China: Beyond the Kuznets Transition
Authors: Li Huaqun , Haynes Kingsley E.
Published: January 2011

The literature on regional change in post-reform China suggests a consistent pattern of increasing regional disparity during 1990s. This article explains disparity through the lens of industrial transition as reflected in the three major economic sectors, agriculture, manufacturing, and services from 1995 to 2004. Increased economic output in China has been accompanied by dramatic changes in employment structure at both the national and regional level. Changes at the provincial level have been driven by national trends and changes of industry mix as well as regional characteristics. The importance of industry mix and regional competitive advantage varies across sectors and has different impacts on employment and output. This analysis indicates that employment loss in agriculture in the western and central regions has not been made up by the increases in other sectors. The differential rate of transition in economic structure toward the secondary and tertiary sectors has contributed to the widening gap between the coastal areas and the other parts of the country. Our exploratory spatial analysis with regard to the extended shift—share components indicates significant spatial autocorrelation both at the sectoral and provincial level. The necessity of integrating spillover effects into any policy intervention is demonstrated. Then sensitivity analysis is carried out to examine how the selection of two spatial weight matrices will influence the decomposition results.
Spatially Disaggregating Employment Growth Estimates
Authors: Corcoran Jonathan , Murray Alan T. , Stimson Robert J.
Published: January 2011

Planning for and managing urban growth and development are major issues facing planners and policy makers in achieving a sustainable future for a metropolitan region. Significant impacts are found in metropolitan regions because of jobs-housing imbalances. Such imbalance occurs when residential areas are a considerable distance from locations of employment, and as a result there is a need for substantial commuter travel. This article develops an approach for estimating future jobs by sector in local areas under conditions of growth and change, assuming that commuters will seek greater efficiencies in the journey to work. An optimization modeling approach is proposed to identify scenarios of improved jobs-housing balance. An application is illustrated for the South East Queensland (SEQ) region of Australia.