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Achiya Zvi Amir, Gadi Horev, Joanne Yacobovich, Michael Bennett, Hannah Tamary
The congenital dyserythropoietic anemias (CDAs) are a group of rare genetic disorders characterized by ineffective erythropoiesis and the development of secondary hemochromatosis. Distal limb anomalies are a well-documented though rare feature of congenital dyserythropoietic anemia type I, that have not been reported so far in other types. We describe a patient with congenital dyserythropoietic anemia type II and four members of a family with clinical features of congenital dyserythropoietic anemia type III with distal limb anomalies...
October 19, 2016: American Journal of Medical Genetics. Part A
Alan Pestronk, Richard Keeling, Rati Choksi
OBJECTIVE: We studied mitochondrial impairment as a factor in the pathologic equivalent of sarcopenia, muscle fiber atrophy associated with increased age. METHODS: Mitochondrial oxidative enzyme activities and coenzyme Q10 levels were measured in frozen human proximal limb muscles with combined age and atrophy, age alone, atrophy alone, denervation, immune myopathies, and mitochondrial disorders with ophthalmoplegia. RESULTS: Sarcopenia (age and atrophy) had reduced mean activities of mitochondrial Complexes I, II, and II+III, with severe reduction of Complex I activity in 54% of patients...
October 19, 2016: Muscle & Nerve
Suma Babu, Erik P Pioro, Jianbo Li, Yuebing Li
INTRODUCTION: We compared the yield of limb and thoracic paraspinal muscles for revealing lower motor neuron (LMN) dysfunction on electromyography (EMG) in amyotrophic lateral sclerosis (ALS). METHODS: A retrospective review of 354 patients with clinically definite or probable ALS was performed. Seventeen limb muscles and thoracic paraspinal muscles were evaluated for the presence of both active and chronic denervation. RESULTS: Distal limb muscles showed the highest electrodiagnostic sensitivities of LMN dysfunction in ALS regardless of onset region and diagnostic certainty at the time of diagnosis...
October 19, 2016: Muscle & Nerve
Imene Dalichaouche, Yamina Sifi, Carinne Roudaut, Karima Sifi, Abdelmadjid Hamri, Leila Rouabah, Noureddine Abadi, Isabelle Richard
INTRODUCTION: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families that presented with early onset severe muscular dystrophy and a clinical phenotype resembling Limb-girdle muscular dystrophy type 2C (LGMD2C). METHODS: To define the genetic basis of the diseases in these families, we undertook a series of analysis of the γ-sarcoglycan (SGCG) and DMD genes. RESULTS: Fifteen families were shown to carry SGCG variants...
October 19, 2016: Muscle & Nerve
Umit Kervan, Sinan Sabit Kocabeyoglu, Dogan Emre Sert, Emre Aygün, Kemal Kavasoglu, Mehmet Karahan, Ertekin Utku Unal, Mustafa Pac
OBJECTIVES: The common femoral artery is the standard site for immediate vascular access when initiating adult venoarterial extracorporeal membrane oxygenation. However, this approach is fraught with problems such as femoral artery occlusion, distal limb ischemia, reperfusion injury resulting in compartment syndrome, retroperitoneal hemorrhage, thrombosis, embolization, and most importantly, pulmonary edema. Here, we show our preference of using the subclavian artery with a side graft as a different cannulation technique for outflow of extracorporeal membrane oxygenation, which can avoid complications associated with different access techniques...
October 14, 2016: Experimental and Clinical Transplantation
Saul Wilson, Kingsley O Abode-Iyamah, John W Miller, Chandan G Reddy, Sina Safayi, Douglas C Fredericks, Nicholas D Jeffery, Nicole A DeVries-Watson, Sara K Shivapour, Stephanus Viljoen, Brian D Dalm, Katherine N Gibson-Corley, Michael D Johnson, George T Gillies, Matthew A Howard
OBJECTIVE: To develop a large animal model of spinal cord injury (SCI), for use in translational studies of spinal cord stimulation (SCS) in the treatment of spasticity. We seek to establish thresholds for the SCS parameters associated with reduction of post-SCI spasticity in the pelvic limbs, with implications for patients. STUDY DESIGN: The weight-drop method was used to create a moderate SCI in adult sheep, leading to mild spasticity in the pelvic limbs. Electrodes for electromyography (EMG) and an epidural spinal cord stimulator were then implanted...
October 19, 2016: Journal of Spinal Cord Medicine
A Pandey, Keshri S Yadav, Gaurav Singh, M Chaturvedi
Kyrle's disease is a rare skin disorder which is characterized by hyperkeratotic papules and nodules with a central keratotic plug mostly located in lower limbs. Exact etiology of Kyrle's disease is unknown, but its association has been reported sparsely with renal disorders, uremic patients on dialysis, diabetes mellitus, liver disease and paraneoplastic syndromes, tuberculosis and some fungal diseases. We report Kyrle's disease in a middle aged female suffering from diabetes mellitus with diabetic nephropathy on hemodialysis...
July 2016: Journal of the Association of Physicians of India
Guangtao Xu, Ruibing Su, Junyao Lv, Xiaoping Lai, Xianxian Li, Jiayan Wu, Bo Hu, Long Xu, Ruilin Shen, Jiang Gu, Xiaojun Yu
Specific morphological changes may be absent in some cases of electrocution shocked by the voltage of 220 V or lower. In this study, we attempted to demonstrate that the anterior wrist and medial malleolus were the optimal sites with promising and significant changes in electric death through the hand-to-foot circuit pathway. We established an electric shock rat model and observed histopathologic changes in the anterior wrist and medial malleolus. The results showed that the current intensities in the left anterior wrist and right medial malleolus were remarkably higher than those in the other sites, and the nuclei long/short (L/S) axis ratios of the arterial endotheliocyte and the skeletal muscle cell in these two areas were significantly higher than those in other parts of the body...
October 17, 2016: International Journal of Legal Medicine
Puneet Kaur Randhawa, Amteshwar Singh Jaggi
Remote ischemic preconditioning (RIPC) treatment strategy is a breakthrough in the field of cardiovascular pharmacology as it has the potential to attenuate myocardial ischemia-reperfusion injury. However, the underlying intracellular pathways have not been widely explored. The present study intends to explore the possible role of TRPV1 channels in mediating remote hind limb preconditioning-induced cardioprotection. Remote hind limb preconditioning stimulus (4 cycles in succession) was delivered by tying the blood pressure cuff at the inguinal level of the rat...
October 17, 2016: Naunyn-Schmiedeberg's Archives of Pharmacology
Ka Eul Kim, Hyun-Jin Tae, Petrashevskaya Natalia, Jae-Chul Lee, Ji Hyeon Ahn, Joon Ha Park, In Hye Kim, Taek Geun Ohk, Chan Woo Park, Jun Hwi Cho, Moo-Ho Won
OBJECTIVE: Combination of β1-adrenergic receptor (AR) blockade and β2-AR activation might be a potential novel therapy for treating heart failure. However, use of β-AR agonists and/or antagonists in the clinical setting is controversial because of the lack of information on cardiac inotropic or chronotropic regulation by AR signaling. METHODS: In this study, we performed hemodynamic evaluation by examining force frequency response (FFR), Frank-Starling relationship, and response to a non-selective β-AR agonist (isoproterenol) in hearts isolated from 6-month-old transgenic (TG) mice overexpressing β1- and β2-ARs (β1- and β2-AR TG mice, respectively)...
September 2016: Clin Exp Emerg Med
J J Jiang, H K Qing, X M Zhang, X M Zhang, W Li, C Y Shen, Q L Li, Y Jiao
OBJECTIVE: To compare total percutaneous access using preclose technique with femoral artery cut-down in endovascular aneurysm repair (EVAR) and assess the safety and feasibility of preclose technique. METHODS: In the study, 81 cases undergoing EVAR from Dec. 2011 to Nov. 2014 in Peking University People's Hospital were retrospectively reviewed. Preoperative CT angiography (CTA) showed presence of infrarenal abdominal aortic aneurysm or descending aortic aneurysm in all the cases...
October 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Y H Kou, B G Jiang
Peripheral nerve defects are still a major challenge in clinical practice, and the most commonly used method of treatment for peripheral nerve defects is nerve transplantation, which has certain limitations and shortcomings, so new repair methods and techniques are needed. The peripheral nerve is elongated in limb lengthening surgery without injury, from which we got inspirations and proposed a new method to repair peripheral nerve defects: peripheral nerve elongation. The peripheral nerve could beelongated by a certain percent, but the physiological change and the maximum elongation range were still unknown...
October 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
Fumihiro Sanada, Yoshiaki Taniyama, Jun Muratsu, Rei Otsu, Masaaki Iwabayashi, Miguel Carracedo, Hiromi Rakugi, Ryuichi Morishita
Uncontrolled coagulation contributes to the pathophysiology of several chronic inflammatory diseases. In these conditions, senescent cells are often observed and is involved in the generation of inflammation. The coincidence of hyper-coagulation, cell senescence, and inflammation suggests the existence of a common underlying mechanism. Recent evidence indicates that activated coagulation factor X (FXa) plays a role in the processes beyond blood coagulation. This non-hematologic function entails the mediation of inflammation and tissue remodeling...
October 18, 2016: Scientific Reports
Juan A Montero, Cristina Sanchez-Fernandez, Carlos I Lorda-Diez, Juan A Garcia-Porrero, Juan M Hurle
DNA damage independent of caspase activation accompanies programmed cell death in different vertebrate embryonic organs. We analyzed the significance of DNA damage during the regression of the interdigital tissue, which sculpts the digits in the embryonic limb. Interdigit remodeling involves oxidative stress, massive apoptosis and cell senescence. Phosphorylation of H2AX mediated by ATM precedes caspase dependent apoptosis and cell senescence during interdigit regression. The association of γH2AX with other downstream DNA repair factors, including MDC1, Rad50 and 53BP1 suggests a defensive response of cells against DNA damage...
October 18, 2016: Scientific Reports
Afshar Zomorrodi, Shakeri Abolhassan, Abbas Jabbari, Sahar Zomorrodi, Monazzah Farzin Sheikh
Renal transplantation is the best treatment for end-stage renal disease. Vascular complications of renal transplantation can be hazardous. Bleeding from the anastomotic site in external iliac artery is a nightmare for kidney transplant surgeons. Ligation of the external iliac artery might possibly lead to the loss of the lower limbs. We present two cases of postallograft nephrectomy bleeding, in which the external iliac artery was ligated without consequent ischemia.
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Kunal Gandhi, Dharmendra Prasad, Vinay Malhotra, Dhananjai Agrawal
Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman's syndrome has rarely been reported in literature. We report a rare case of Gitelman's syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Sezai Özkan, Jos J Mellema, Adam Nazzal, Sang-Gil Lee, David Ring
PURPOSE: Information gathering is a key component of shared decision making and has a measurable effect on treatment decisions. Access to health information might improve quality of care in hand surgery. Our purpose was to identify socio-demographic, condition-related, and psychosocial factors associated with online information-seeking behavior in patients with hand and upper-extremity conditions. METHODS: From June 2015 to February 2016, we enrolled 134 patients with an upper-extremity condition who presented to an outpatient hand surgery office at an urban level I trauma center in this cross-sectional study...
October 14, 2016: Journal of Hand Surgery
Raghu L Motaganahalli, Matthew R Smeds, Michael P Harlander-Locke, Peter F Lawrence, Naoki Fujimura, Randall R DeMartino, Giovanni De Caridi, Alberto Munoz, Sherene Shalhub, Susanna H Shin, Kwame S Amankwah, Hugh A Gelabert, David A Rigberg, Jeffrey J Siracuse, Alik Farber, E Sebastian Debus, Christian Behrendt, Jin H Joh, Naveed U Saqib, Kristofer M Charlton-Ouw, Catherine M Wittgen
BACKGROUND: Adventitial cystic disease (ACD) is an unusual arteriopathy; case reports and small series constitute the available literature regarding treatment. We sought to examine the presentation, contemporary management, and long-term outcomes using a multi-institutional database. METHODS: Using a standardized database, 14 institutions retrospectively collected demographics, comorbidities, presentation/symptoms, imaging, treatment, and follow-up data on consecutive patients treated for ACD during a 10-year period, using Society for Vascular Surgery reporting standards for limb ischemia...
October 14, 2016: Journal of Vascular Surgery
K Ye, X Lu, W Li, M Yin, X Liu, J Qin, G Liu, M Jiang
OBJECTIVE: To evaluate the technical aspects and short-term clinical results of stent placement for chronic occlusion of a filter-bearing inferior vena cava (IVC) in patients with severe post-thrombotic syndrome (PTS). METHODS: A retrospective analysis of 24 patients with severe PTS associated with occlusion of a filter-bearing IVC treated by stent placement was conducted at a single institution from January 2010 to December 2014. Patient-reported quality of life and limb Villalta scores were evaluated before and after treatment by questionnaire and clinical examination, respectively...
October 14, 2016: European Journal of Vascular and Endovascular Surgery
Cheng-Wei Lin, Brend Ray-Sea Hsu, Jir-Shiong Tsai, Hui-Mei Yang, Jr-Rung Lin, Chia-Hung Lin, Chung-Huei Huang, Shih-Yuan Hung, Yu-Yao Huang
AIMS: To evaluate the effect of limb preservation status and body mass index (BMI) on the survival of patients with diabetic foot ulcers (DFUs). METHODS: A total of 1346 patients treated for limb-threatening DFUs at a major diabetic foot center in Taiwan from 2002 to 2009 were tracked until December 2012. The patients were classified into three groups: limb-preserved (n=858), minor lower-extremity amputation (LEA) (n=249), and major LEA (n=239). Clinical data during treatment were used for survival analysis...
September 30, 2016: Journal of Diabetes and its Complications
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