Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Science.gov (United States)

Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

2006-08-01

Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.

Neck stiffness in Guillaine-Barre syndrome subsequent to cytomegalovirus infection

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İbrahim Etem Pişkin

2011-03-01

Full Text Available Guillain-Barre syndrome is an acute inflammatory demyelinating polyradiculoneuropathy that can be seen at any age. The classic symptoms such as flaccid paralysis and areflexia are not always predominant in children. In this study, we presented a 3-year-old girl with Guillain-Barre syndrome associated with cytomegalovirus infection who referred with showed atypical symptoms including neck stiffness.

[Metabolic syndrome and aortic stiffness].

Science.gov (United States)

Simková, A; Bulas, J; Murín, J; Kozlíková, K; Janiga, I

2010-09-01

The metabolic syndrome (MS) is a cluster of risk factors that move the patient into higher level of risk category of cardiovascular disease and the probability of type 2 diabetes mellitus manifestation. Definition of MS is s based on the presence of selected risk factors as: abdominal obesity (lager waist circumpherence), atherogenic dyslipidemia (low value of HDL-cholesterol and increased level of triglycerides), increased fasting blood glucose (or type 2 DM diagnosis), higher blood pressure or antihypertensive therapy. In 2009 there were created harmonizing criteria for MS definition; the condition for assignment of MS is the presence of any 3 criteria of 5 mentioned above. The underlying disorder of MS is an insulin resistance or prediabetes. The patients with MS more frequently have subclinical (preclinical) target organ disease (TOD) which is the early sings of atherosclerosis. Increased aortic stiffness is one of the preclinical diseases and is defined by pathologically increased carotidofemoral pulse wave velocity in aorta (PWV Ao). With the aim to assess the influence of MS on aortic stiffness we examined the group of women with arterial hypertension and MS and compare them with the group of women without MS. The aortic stiffness was examined by Arteriograph--Tensiomed, the equipment working on the oscillometric principle in detection of pulsations of brachial artery. This method determines the global aortic stiffness based on the analysis of the shape of pulse curve of brachial artery. From the cohort of 49 pts 31 had MS, the subgroups did not differ in age or blood pressure level. The mean number of risk factors per person in MS was 3.7 comparing with 1.7 in those without MS. In the MS group there was more frequently abdominal obesity present (87% vs 44%), increased fasting blood glucose (81% vs 22%) and low HDL-cholesterol level. The pulse wave velocity in aorta, PWV Ao, was significantly higher in patients with MS (mean value 10,19 m/s vs 8,96 m

Work-related upper limb “overuse” syndromes

DEFF Research Database (Denmark)

Jepsen, Jørgen Riis

2016-01-01

A previous review of historical descriptions and theories about the character and pathogenesis of writer’s cramp and other comparable chronic upper limb “overuse” work-related pain syndromes has indicated that somatic dysfunctions explain symptoms and findings. The first case studies and case...... series suggested that these conditions were caused by pathology affecting the peripheral nerves. The general perception gradually changed, however, with symptoms becoming attributed to central nervous system dysfunction and ultimately to represent a psychiatric condition. Work-related upper limb...... disorders remain diagnostically challenging to clinicians and there is still a tendency to see many patients’ pain as a psychiatric problem when a standard physical examination does not explain the condition. This article describes reports of writer’s cramp and comparable occupational upper limb “overuse...

Metabolic syndrome and its effect on aortic stiffness in premenopausal women.

Science.gov (United States)

Simkova, A; Bulas, J; Balogova, S; Reptova, A; Kisa, B; Luha, J; Kinova, S

2013-01-01

Metabolic syndrome (MS) is a cluster of proatherogenic risk factors (RF) (abdominal obesity, atherogenic dyslipidemia, impaired fasting glucose or type 2 diabetes mellitus, higher blood pressure or antihypertensive therapy) that move patients into a higher risk for development of cardiovascular disease (CVD) and type 2 diabetes. The preclinical (subclinical) target organ diseases (SOD) are early signs of atherosclerosis. An increased aortic stiffness characterised by an increased pulse wave velocity in aorta (PWV Ao) is one of SOD.The aim of the present study was to assess the impact of metabolic syndrome (MS) on aortic wall stiffness and the risk profile in premenopausal women. The aortic stiffness was measured using Arteriograph-Tensiomed, based on oscillometric measurement and analysis of the shape of brachial pulse wave, giving the PWV Ao. The results of measurements characterise a global aortic stiffness. We examined 81 premenopausal women (without history of CVD). The MS (according to the 2009 "harmonizing" definition) was present in 31 women (mean age 41.5 y), in the control group, there were 50 women (39 y). The most frequent components of MS were abdominal obesity (93 % vs 42%), arterial hypertension (68 % vs 10 %) and dyslipidemia (29 % vs 8 %). The PWV Ao was significantly higher in women with MS (9.26 m/s) compared to the control group (7.44 m/s). The aortic stiffness in women with MS compared to controls was significantly higher despite a presumed general protective hormonal effect on cardiovascular system in women with child-bearing potential (Tab. 4, Ref. 25).

Proteus syndrome: A rare cause of gigantic limb.

Science.gov (United States)

Chakrabarti, Nandini; Chattopadhyay, Chandan; Bhuban, Majhi; Pal, Salil Kumar

2014-04-01

A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, splenomegaly and multiple nevi. Angiography revealed venous malformation within the limb. The findings are in conformity to the criteria for the Proteus syndrome.

Proteus syndrome: A rare cause of gigantic limb

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Nandini Chakrabarti

2014-01-01

Full Text Available A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, splenomegaly and multiple nevi. Angiography revealed venous malformation within the limb. The findings are in conformity to the criteria for the Proteus syndrome.

Home-care treatment of swimmer syndrome in a miniature schnauzer dog.

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Kim, Sun-A; Na, Ki-Jeong; Cho, Jong-Ki; Shin, Nam-Shik

2013-09-01

A 50-day-old, female miniature schnauzer dog was presented for astasia, dorsoventral flattening of the thorax, hypoplasia of hind-limb muscles, stiffness of hind-limb joints, paddling leg motion, and panting. The dog was diagnosed with swimmers syndrome. The dog recovered completely following 40 days of home-care treatment that involved environmental and nutritional management along with intensive physiotherapy.

Gigantism of the lower limb in Klippel-Trenaunay syndrome: anatomy of the lateral marginal vein.

Science.gov (United States)

Abdul-Rahman, N R; Mohammad, K F; Ibrahim, S

2009-06-01

The Klippel-Trenaunay syndrome is a combination of venous and capillary malformations associated with soft tissue and/or bony limb hypertrophy, with or without lymphatic malformations. Although persistent foetal veins are rare, the persistence of the lateral marginal vein is a common association in this syndrome. It results in venous hypertension, which gives rise to venous varicosities, which are commonly seen in this syndrome. This is a case report of a 28-year-old man with Klippel-Trenaunay syndrome, with persistence of the lateral marginal vein, affecting his right lower limb. He was treated with an above-knee amputation. The amputated limb was dissected to demonstrate the anatomy of the lateral marginal vein. To the best of the authors' knowledge, the gross anatomy of the lateral marginal vein has not been previously reported.

Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1.

Science.gov (United States)

Kozel, Beth A; Danback, Joshua R; Waxler, Jessica L; Knutsen, Russell H; de Las Fuentes, Lisa; Reusz, Gyorgy S; Kis, Eva; Bhatt, Ami B; Pober, Barbara R

2014-01-01

Williams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human chromosome 7. Elastin insufficiency leads to the cardiovascular hallmarks of this condition, namely focal stenosis and hypertension. Extrapolation from the Eln(+/-) mouse suggests that affected people may also have stiff vasculature, a risk factor for stroke, myocardial infarction, and cardiac death. NCF1, one of the variably deleted Williams genes, is a component of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex and is involved in the generation of oxidative stress, making it an interesting candidate modifier for vascular stiffness. Using a case-control design, vascular stiffness was evaluated by pulse wave velocity in 77 Williams cases and matched controls. Cases had stiffer conducting vessels than controls (PWilliams syndrome. Pulse wave velocity increased with age at comparable rates in cases and controls, and although the degree of vascular stiffness varied, it was seen in both hypertensive and normotensive Williams participants. Use of antihypertensive medication and extension of the Williams deletion to include NCF1 were associated with protection from vascular stiffness. These findings demonstrate that vascular stiffness is a primary vascular phenotype in Williams syndrome and that treatment with antihypertensives or agents inhibiting oxidative stress may be important in managing patients with this condition, potentially even those who are not overtly hypertensive.

Lower limb control and mobility following exercise training

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Kim Sukwon

2012-02-01

Full Text Available Abstract The objective of the present study was to evaluate the effects of 8-week balance or weight training on ankle joint stiffness and limb stability for older adults, furthermore, on outcomes of slips while walking. Eighteen older adults volunteered for the study and randomly were assigned to the three groups, such as, weight, balance, or control group. While walking on a walking track, three-dimensional posture data were sampled and ankle joint stiffness and limb stability were computed to evaluate the effects of training. 2 (pre and post × 3 (weight, balance, and control × 2 (dominant and non-dominant legs mixed factor repeated ANOVA was performed. The results indicated that only balance training group showed an improvement in joint stiffness and both the training groups showed improvements in limb stability. Also, fall frequency results suggested that joint stiffness and limb stability had an effect on the likelihood of slip-induced falls. In conclusion, training can facilitate improvements in joint and limb control mechanism for older adults contributing to an improvement in the likelihood of slip-induced falls.

Surveillance case definitions for work related upper limb pain syndromes

OpenAIRE

Harrington, J. M.; Carter, J. T.; Birrell, L.; Gompertz, D.

1998-01-01

OBJECTIVES: To establish consensus case definitions for several common work related upper limb pain syndromes for use in surveillance or studies of the aetiology of these conditions. METHODS: A group of healthcare professionals from the disciplines interested in the prevention and management of upper limb disorders were recruited for a Delphi exercise. A questionnaire was used to establish case definitions from the participants, followed by a consensus conference involving the core grou...

Multiple cranial neuropathies without limb involvements: guillain-barre syndrome variant?

Science.gov (United States)

Yu, Ju Young; Jung, Han Young; Kim, Chang Hwan; Kim, Hyo Sang; Kim, Myeong Ok

2013-10-01

Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by bulbar dysfunctions (cranial nerves IX and X) accompanied by limb weakness and walking difficulties due to motor and/or sensory dysfunctions. Furthermore, reported cases of the acute multiple cranial neuropathies show electrophysiological abnormalities compatible with the typical Guillain-Barre syndromes (GBS). We recently experienced a patient with a benign infectious disease who subsequently developed symptoms of variant GBS. Here, we describe the case of a 48-year-old male patient who developed multiple symptoms of cranial neuropathy without limb weakness. His laboratory findings showed a positive result for anti-GQ1b IgG antibody. As compared with previously described variants of GBS, the patient exhibited widespread cranial neuropathy, which included neuropathies of cranial nerves III-XII, without limb involvement or ataxia.

[Characteristics of pain syndrome in patients with upper limbs occupational polyneuropathies].

Science.gov (United States)

Kochetova, O A; Mal'kova, N Yu

2015-01-01

Pain syndrome accompanies various diseases of central and peripheral nervous system--that is one of the most important problems in contemporary neurology. Many scientists are in search for effective diagnostic and therapeutic tools. The article covers characteristics of the pain syndrome and its mechanisms in patients with upper limbs occupational polyneuropathies.

Pilot study on quantitative assessment of muscle imbalance: differences of muscle synergies, equilibrium-point trajectories, and endpoint stiffness in normal and pathological upper-limb movements.

Science.gov (United States)

Oku, Takanori; Uno, Kanna; Nishi, Tomoki; Kageyama, Masayuki; Phatiwuttipat, Pipatthana; Koba, Keitaro; Yamashita, Yuto; Murakami, Kenta; Uemura, Mitsunori; Hirai, Hiroaki; Miyazaki, Fumio; Naritomi, Hiroaki

2014-01-01

This paper proposes a novel method for assessment of muscle imbalance based on muscle synergy hypothesis and equilibrium point (EP) hypothesis of motor control. We explain in detail the method for extracting muscle synergies under the concept of agonist-antagonist (AA) muscle pairs and for estimating EP trajectories and endpoint stiffness of human upper limbs in a horizontal plane using an electromyogram. The results of applying this method to the reaching movement of one normal subject and one hemiplegic subject suggest that (1) muscle synergies (the balance among coactivation of AA muscle pairs), particularly the synergies that contributes to the angular directional kinematics of EP and the limb stiffness, are quite different between the normal subject and the hemiplegic subject; (2) the concomitant EP trajectory is also different between the normal and hemiplegic subjects, corresponding to the difference of muscle synergies; and (3) the endpoint (hand) stiffness ellipse of the hemiplegic subject becomes more elongated and orientation of the major axis rotates clockwise more than that of the normal subject. The level of motor impairment would be expected to be assessed from a comparison of these differences of muscle synergies, EP trajectories, and endpoint stiffness among normal and pathological subjects using the method.

Insomnia and limb pain in hemodialysis patients: What is the share of restless leg syndrome?

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Majid Malaki

2012-01-01

Full Text Available Insomnia and limb pain are common problems in dialysis patients. In addition, restless leg syndrome (RLS as a specific cause of insomnia and limb pain has been reported in many studies. The purpose of this study was to estimate incidence of insomnia and RLS as a cause of insomnia in these patients. Twenty-six patients undergoing hemodialysis were investigated for insomnia, limb pain and RLS as per the defined criteria. They were evaluated for dialysis quality, dialysis duration, hemoglobin, serum phosphorous, ionized calcium, iron and ferritin levels. These variables between patients with insomnia and those with normal sleep were evaluated by independent "t" test. Without considering the etiology or pathogenesis of insomnia, we evaluated the occurrence of insomnia and limb pain in these patients, and specifically, restless leg syndrome. Insomnia and limb pain were common in dialytic patients. 46% of patients had insomnia. 91% of sleepless group had limb pain as a persistent, annoying complaint. Limb pain was not seen in groups with a normal sleep pattern. Restless leg syndrome was found in 8% of total cases (2 out of 26 and 17% among the insomnia group (2 out of 12. In spite of high incidence of insomnia among patients undergoing regular hemodialysis, role of RLS is trivial. There is a strong relationship between hemoglobin levels and duration of renal replacement therapy to insomnia occurrence.

Insomnia and limb pain in hemodialysis patients: what is the share of restless leg syndrome?

Science.gov (United States)

Malaki, Majid; Mortazavi, Fakhr Sadat; Moazemi, Sussan; Shoaran, Maryam

2012-01-01

Insomnia and limb pain are common problems in dialysis patients. In addition, restless leg syndrome (RLS) as a specific cause of insomnia and limb pain has been reported in many studies. The purpose of this study was to estimate incidence of insomnia and RLS as a cause of insomnia in these patients. Twenty-six patients undergoing hemodialysis were investigated for insomnia, limb pain and RLS as per the defined criteria. They were evaluated for dialysis quality, dialysis duration, hemoglobin, serum phosphorous, ionized calcium, iron and ferritin levels. These variables between patients with insomnia and those with normal sleep were evaluated by independent "t" test. Without considering the etiology or pathogenesis of insomnia, we evaluated the occurrence of insomnia and limb pain in these patients, and specifically, restless leg syndrome. Insomnia and limb pain were common in dialytic patients. 46% of patients had insomnia. 91% of sleepless group had limb pain as a persistent, annoying complaint. Limb pain was not seen in groups with a normal sleep pattern. Restless leg syndrome was found in 8% of total cases (2 out of 26) and 17% among the insomnia group (2 out of 12). In spite of high incidence of insomnia among patients undergoing regular hemodialysis, role of RLS is trivial. There is a strong relationship between hemoglobin levels and duration of renal replacement therapy to insomnia occurrence.

Berry syndrome in association with familial limb malformation.

LENUS (Irish Health Repository)

Shahdadpuri, R

2012-02-01

We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

Running With an Elastic Lower Limb Exoskeleton.

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Cherry, Michael S; Kota, Sridhar; Young, Aaron; Ferris, Daniel P

2016-06-01

Although there have been many lower limb robotic exoskeletons that have been tested for human walking, few devices have been tested for assisting running. It is possible that a pseudo-passive elastic exoskeleton could benefit human running without the addition of electrical motors due to the spring-like behavior of the human leg. We developed an elastic lower limb exoskeleton that added stiffness in parallel with the entire lower limb. Six healthy, young subjects ran on a treadmill at 2.3 m/s with and without the exoskeleton. Although the exoskeleton was designed to provide ~50% of normal leg stiffness during running, it only provided 24% of leg stiffness during testing. The difference in added leg stiffness was primarily due to soft tissue compression and harness compliance decreasing exoskeleton displacement during stance. As a result, the exoskeleton only supported about 7% of the peak vertical ground reaction force. There was a significant increase in metabolic cost when running with the exoskeleton compared with running without the exoskeleton (ANOVA, P exoskeletons for human running are human-machine interface compliance and the extra lower limb inertia from the exoskeleton.

Stiff person syndrome (SPS: Literature review and case report

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Erna Pretorius

2013-11-01

Full Text Available Stiff person syndrome (SPS is a rare, debilitating condition which presents with progressive and inconsistent neurological features. The main symptoms are stiffness and intermittent, painful muscle spasms, triggered and exacerbated by stressful and emotional stimuli. The fluctuating clinical nature of SPS, and otherwise normal neurological examination, often lead to a misdiagnosis of conversion disorder. Psychiatric symptoms frequently accompany this disorder and patients are often first seen by psychiatrists. SPS is autoimmune-based: antibodies are directed against glutamate decarboxylase, resulting in dysregulation of gamma-aminobutyric acid (GABA in the brain which is considered the cause of the neuropsychiatric symptomatology. SPS should be considered in the differential diagnosis of conversion disorder. Effective management requires early detection, a collaborative approach with GABA-ergic medication and intravenous immunoglobulins, and management of concomitant psychiatric disorders. We describe a patient with SPS. Only one other case has been reported in South Africa.

Afferent Loop Syndrome after Roux-en-Y Total Gastrectomy Caused by Volvulus of the Roux-Limb

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Hideki Katagiri

2016-01-01

Full Text Available Afferent loop syndrome is a rare complication of gastric surgery. An obstruction of the afferent limb can present in various ways. A 73-year-old man presented with one day of persistent abdominal pain, gradually radiating to the back. He had a history of total gastrectomy with a Roux-en-Y reconstruction. Abdominal computed tomography scan revealed dilation of the duodenum and small intestine in the left upper quadrant. Exploratory laparotomy showed volvulus of the biliopancreatic limb that caused afferent loop syndrome. In this patient, the 50 cm long limb was the cause of volvulus. It is important to fashion a Roux-limb of appropriate length to prevent this complication.

Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports

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Harini Sarva

2016-03-01

Full Text Available Background: “Classic” stiff person syndrome (SPS features stiffness, anti-glutamic acid decarboxylase (anti-GAD antibodies, and other findings. Anti-GAD antibodies are also detected in some neurological syndromes (such as ataxia in which stiffness is inconsistently present. Patients with otherwise “classic” SPS may either lack anti-GAD antibodies or be seropositive for others. Hence, SPS cases appear to fall within a clinical spectrum that includes conditions such as progressive encephalomyelitis with rigidity and myoclonus (PERM, which exhibits brainstem and autonomic features. We have compiled herein SPS-spectrum cases reported since 2010, and have segregated them on the basis of likely disease mechanism (autoimmune, paraneoplastic, or cryptogenic for analysis. Methods: The phrases “stiff person syndrome”, “PERM”, “anti-GAD antibody syndrome”, and “glycine receptor antibody neurological disorders” were searched for in PubMed in January 2015. The results were narrowed to 72 citations after excluding non-English and duplicate reports. Clinical descriptions, laboratory data, management, and outcomes were categorized, tabulated, and analyzed. Results: Sixty-nine autoimmune, 19 paraneoplastic, and 13 cryptogenic SPS-spectrum cases were identified. SPS was the predominant diagnosis among the groups. Roughly two-thirds of autoimmune and paraneoplastic cases were female. Anti-GAD antibodies were most frequently identified, followed by anti-amphiphysin among paraneoplastic cases and by anti-glycine receptor antibodies among autoimmune cases. Benzodiazepines were the most commonly used medications. Prognosis seemed best for cryptogenic cases; malignancy worsened that of paraneoplastic cases. Discussion: Grouping SPS-spectrum cases by pathophysiology provided insights into work-up, treatment, and prognosis. Ample phenotypic and serologic variations are present within the categories. Ruling out malignancy and autoimmunity is

Bio-inspired control of joint torque and knee stiffness in a robotic lower limb exoskeleton using a central pattern generator.

Science.gov (United States)

Schrade, Stefan O; Nager, Yannik; Wu, Amy R; Gassert, Roger; Ijspeert, Auke

2017-07-01

Robotic lower limb exoskeletons are becoming increasingly popular in therapy and recreational use. However, most exoskeletons are still rather limited in their locomotion speed and the activities of daily live they can perform. Furthermore, they typically do not allow for a dynamic adaptation to the environment, as they are often controlled with predefined reference trajectories. Inspired by human leg stiffness modulation during walking, variable stiffness actuators increase flexibility without the need for more complex controllers. Actuation with adaptable stiffness is inspired by the human leg stiffness modulation during walking. However, this actuation principle also introduces the stiffness setpoint as an additional degree of freedom that needs to be coordinated with the joint trajectories. As a potential solution to this issue a bio-inspired controller based on a central pattern generator (CPG) is presented in this work. It generates coordinated joint torques and knee stiffness modulations to produce flexible and dynamic gait patterns for an exoskeleton with variable knee stiffness actuation. The CPG controller is evaluated and optimized in simulation using a model of the exoskeleton. The CPG controller produced stable and smooth gait for walking speeds from 0.4 m/s up to 1.57 m/s with a torso stabilizing force that simulated the use of crutches, which are commonly needed by exoskeleton users. Through the CPG, the knee stiffness intrinsically adapted to the frequency and phase of the gait, when the speed was changed. Additionally, it adjusted to changes in the environment in the form of uneven terrain by reacting to ground contact forces. This could allow future exoskeletons to be more adaptive to various environments, thus making ambulation more robust.

Fetal Valproate Syndrome with Limb Defects: An Indian Case Report

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Manisha Goyal

2016-01-01

Full Text Available Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS, comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and genitourinary malformations, and limb defects. We are presenting an Indian case of FVS with major limb defects.

Effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness of female patients with metabolic syndrome.

Science.gov (United States)

Kang, Seol-Jung; Kim, Eon-Ho; Ko, Kwang-Jun

2016-06-01

[Purpose] The purpose of this study was to investigate the effects of aerobic exercise on the resting heart rate, physical fitness, and arterial stiffness or female patients with metabolic syndrome. [Subjects and Methods] Subjects were randomly assigned to an exercise group (n=12) or a control group (n=11). Subjects in the exercise group performed aerobic exercise at 60-80% of maximum heart rate for 40 min 5 times a week for 12 weeks. The changes in metabolic syndrome risk factors, resting heart rate, physical fitness, and arterial stiffness were measured and analyzed before and after initiation of the exercise program to determine the effect of exercise. Arterial stiffness was assessed based on brachial-ankle pulse wave velocity (ba-PWV). [Results] Compared to the control group; The metabolic syndrome risk factors (weight, % body fat, waist circumference, systolic blood pressure, diastolic blood pressure, and HDL-Cholesterol) were significantly improved in the exercise: resting heart rate was significantly decreased; VO2max, muscle strength and muscle endurance were significantly increased; and ba-PWV was significantly decreased. [Conclusion] Aerobic exercise had beneficial effects on the resting heart rate, physical fitness, and arterial stiffness of patients with metabolic syndrome.

Myokymia of lower limbs for over one year

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Jing ZHAO

2015-09-01

Full Text Available A 51-year-old man came to our outpatient for one-year history of progressive myokymia in both legs. He had initially noted a “continuous muscle-fiber activity” of lower limbs in July 2013. Two months later, similar symptoms progressively affected muscles in both thighs and fundament, which was persistent during sleep. The frequency, duration and severity were gradually increased. He suffered from a feeling of tiredness and fatigue in both legs after long-time walking. In the local hospital, spinal MRI showed protrusion of C5-6, L4-5, L5-S1 intervertebral disc. One day in Oct 2013, his legs subsequently became generally stiff and painful to the point of a stiff paralysis and presented excessive sweating after drunk. This attack lasted for 30 min. Then he came to our clinic. Routine blood tests were normal. Electromyographic examination showed neurogenic damages of left thoracic paraspinal muscles. Abnormal F wave of left lower limb and discrete waveform of four limbs could be seen. Nerve conduction velocity (NCV and sympathetic skin response (SSR were unremarkable. Treatments with oral phenytoin sodium and carbamazepine were all ineffective. The attack occurred only a few times a year, especially after drunk, as well as the frequency, duration and severity roughly similar. He was admitted in our hospital in Oct 2014. The patient had a 9-year history of high blood pressure and the family history was normal. Neurological examination revealed generalized leg muscle hypertrophy, especially the gastrocnemius muscle, despite lack of physical exercise. Cranial nerves were intact. Hyperhidrosis was noted along with abundant myokymia that were evident in lower limbs. Muscle bulk and strength of upper limbs were normal. The deep tendon reflexes of lower limbs were unobtainable. Sensory and cerebellar examination revealed no dysfunction. Laboratory records showed that serum A type Sjögren's syndrome antibody (SSA and Ro52 antibody was positive

Stiff baby syndrome er en sjælden årsag til neonatal hypertonicitet

DEFF Research Database (Denmark)

Rønne, Maria Sode; Nielsen, Preben Berg; Mogensen, Christian Backer

2014-01-01

Stiff baby syndrome (hyperekplexia) is a rare genetic disorder. The condition can easily be misdiagnosed as epilepsy or severe sepsis because of hypertonicity and seizure-like episodes and has an increased risk of severe apnoea and sudden infant death. Tapping of the nasal bridge inducing a start...

A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody

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Chandra Mohan Sharma

2016-01-01

Full Text Available Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes , limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies.Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome,cerebellar ataxia and palatal myoclonus.This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.

The effects of resistance exercise training on arterial stiffness in metabolic syndrome.

Science.gov (United States)

DeVallance, E; Fournier, S; Lemaster, K; Moore, C; Asano, S; Bonner, D; Donley, D; Olfert, I M; Chantler, P D

2016-05-01

Arterial stiffness is a strong independent risk factor for cardiovascular disease and is elevated in individuals with metabolic syndrome (MetS). Resistance training is a popular form of exercise that has beneficial effects on muscle mass, strength, balance and glucose control. However, it is unknown whether resistance exercise training (RT) can lower arterial stiffness in patients with MetS. Thus, the aim of this study was to examine whether a progressive RT program would improve arterial stiffness in MetS. A total of 57 subjects (28 healthy sedentary subjects; 29 MetS) were evaluated for arterial structure and function, including pulse wave velocity (cfPWV: arterial stiffness), before and after an 8-week period of RT or continuation of sedentary lifestyle. We found that 8 weeks of progressive RT increased skeletal muscle strength in both Con and MetS, but did not change arterial stiffness in either MetS (cfPWV; Pre 7.9 ± 0.4 m/s vs. Post 7.7 ± 0.4 m/s) or healthy controls (cfPWV; Pre 6.9 ± 0.3 m/s vs. Post 7.0 ± 0.3 m/s). However, when cfPWV is considered as a continuous variable, high baseline measures of cfPWV tended to show a decrease in cfPWV following RT. Eight weeks of progressive RT did not decrease the group mean values of arterial stiffness in individuals with MetS or healthy controls.

In vivo Evaluation of Patellar Tendon Stiffness in Individuals with Patellofemoral Pain Syndrome

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Hsin-Yi Liu

2008-01-01

Full Text Available The objective of this study was to utilise an ultrasonic technique to assess the effect of patellofemoral pain syndrome (PFPS on the mechanical properties of the patellar tendon. Seven subjects with PFPS and seven matched control subjects volunteered to participate in this study. Subjects were asked to perform isometric maximal voluntary contractions of the knee extensors while their knee extension torque was monitored and the displacement of the patellar tendon was recorded with an ultrasonic system. Our results showed significantly lower tendon stiffness (by ∼30% in the PFPS subjects. Although tendon secant modulus was lower by 34% in the PFPS subjects, the difference was not statistically significant. Therefore, we conclude that the ultrasonic technique was able to detect a decrease in the structural stiffness of the patellar tendon associated with PFPS. The decrease in tendon stiffness was moderately correlated with the length of symptoms in these individuals.

Insomnia and limb pain in hemodialysis patients: What is the share of restless leg syndrome?

OpenAIRE

Majid Malaki; Fakhr Sadat Mortazavi; Sussan Moazemi; Maryam Shoaran

2012-01-01

Insomnia and limb pain are common problems in dialysis patients. In addition, restless leg syndrome (RLS) as a specific cause of insomnia and limb pain has been reported in many studies. The purpose of this study was to estimate incidence of insomnia and RLS as a cause of insomnia in these patients. Twenty-six patients undergoing hemodialysis were investigated for insomnia, limb pain and RLS as per the defined criteria. They were evaluated for dialysis quality, dialysis duration, hemoglobin, ...

Application of force-length curve for determination of leg stiffness during a vertical jump.

Science.gov (United States)

Struzik, Artur; Zawadzki, Jerzy

2016-01-01

The aim of this study was to present the methodology for estimation of a leg stiffness during a countermovement jump. The question was asked whether leg stiffness in the countermovement and take-off phases are similar to each other as demonstrated in previous reports. It was also examined whether the stiffness in left lower limb is similar to the one in right lower limb. The research was conducted on 35 basketball players. Each participant performed three countermovement jumps with arm swing to the maximum height. Measurements employed a Kistlerforce plate and a BTS SMART system for motion analysis. Leg stiffness (understood as an inclination of the curve of ground reaction forces vs. length) was computed for these parts of countermovement and take-off phases where its value was relatively constant and F(Δl) relationship was similar to linear. Mean value (±SD) of total stiffness of both lower limbs in the countermovement phase was 7.1 ± 2.3 kN/m, whereas this value in the take-off phase was 7.5 ± 1 kN/m. No statistically significant differences were found between the leg stiffness in the countermovement and the take-off phases. No statistically significant differences were found during the comparison of the stiffness in the right and left lower limb. The calculation methodology allows us to estimate the value of leg stiffness based on the actual shape of F(Δl) curve rather than on extreme values of ΔF and Δl. Despite different tasks of the countermovement and the take-off phases, leg stiffness in these phases is very similar. Leg stiffness during a single vertical jump maintains a relatively constant value in the parts with a small value of acceleration.

Post-transplant distal limb syndrome

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María Florencia Borghi Torzillo

2017-02-01

Full Text Available The post-transplant distal limb syndrome is a not well known entity, with a prevalence of 5% in patients with renal transplant. Its diagnosis is based on clinical symptoms, bone scintigraphy and MRI, it has a benign course and the patient recovers without sequel. We present the case of a 37-year-old male, with medical history of hypertension, Berger's disease in 1999 that required dialysis three times a week for four years (2009-2013 and renal transplant in 2013. The patient consults on January 2014 referring severe pain in both feet, with sudden onset; he remembers the exact date of the beginning of the pain and denies trauma, pain prevents ambulation. The bone scintigraphy shows pathological uptake in both feet with no difference between the two. Although there is no treatment for this disease, it has a benign course

Metabolic risk factors and arterial stiffness in Indian children of parents with metabolic syndrome.

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Khadilkar, Anuradha V; Chiplonkar, Shashi A; Pandit, Deepa S; Kinare, Arun S; Khadilkar, Vaman V

2012-02-01

To investigate the possible association between metabolic syndrome (MS) and arterial stiffness in Indian children with parental MS status. A cross-sectional study was conducted in 140 overweight/obese and 60 normal-weight Indian children (mean age, 11.4 ± 2.8 years) along with one of their parents during 2008-2009. Data on weight, height, blood pressure, serum lipids, zinc, insulin, and glucose were collected. Intima media thickness (CIMT) and stiffness parameters were assessed in the right carotid artery. Physical activity and diet were assessed using structured questionnaires. Body composition was measured using dual-energy x-ray absorptiometry. A gradual increase in the percentage of MS children with an increasing number of MS components in parents was observed. Mean values for arterial stiffness, pulse wave velocity, and elastic modulus were significantly higher in MS children of MS parents than in MS children of normal parents (p parent pairs (p children's CIMT and arterial stiffness were significantly associated (p parental MS-CIMT. Parental MS status and lifestyle factors increase the risk of MS and arterial abnormalities in children.

Stiff person syndrome associated anti-amphiphysin antibodies reduce GABA associated [Ca(2+)]i rise in embryonic motoneurons.

Science.gov (United States)

Geis, C; Beck, M; Jablonka, S; Weishaupt, A; Toyka, K V; Sendtner, M; Sommer, C

2009-10-01

Autoantibodies to the synaptic protein amphiphysin play a crucial pathogenic role in paraneoplastic stiff-person syndrome. Impairment of GABAergic inhibition is the presumed pathophysiological mechanism by which these autoantibodies become pathogenic. Here we used calcium imaging on rat embryonic motor neurons to investigate whether antibodies to amphiphysin directly hinder GABAergic signaling. We found that the immunoglobulin G fraction from a patient with stiff-person syndrome, containing high titer antibodies to amphiphysin and inducing stiffness in rats upon passive transfer, reduced GABA-induced calcium influx in embryonic motor neurons. Depletion of the anti-amphiphysin fraction from the patient's IgG by selective affinity chromatography abolished this effect, showing its specificity for amphiphysin. Quantification of the surface expression of the Na(+)/K(+)/2Cl(2-) cotransporter revealed a reduction after incubation with anti-amphiphysin IgG, which is concordant with a lower intracellular chloride concentration and thus impairment of GABA mediated calcium influx. Thus, anti-amphiphysin antibodies exert a direct effect on GABA signaling, which is likely to contribute to the pathogenesis of SPS.

A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome.

Science.gov (United States)

Ogunmakin, Kehinde; Vangipuram, Ramya; Sturgeon, Ashley; Shimizu, Ikue

2015-09-17

Stiff skin syndrome is a rare sclerotic condition that presents during infancy or early childhood. It has an insidious chronic course and may lead to significant co-morbidity and reduced quality of life. Often, affected individuals experience impaired ambulation and immobilization related to joint involvement. Clinically, it may resemble other sclerotic diseases, so histopathological evaluation is necessary to establish a diagnosis. As it is a condition with limited treatment options, prompt diagnosis and early initiation of physical therapy is crucial to prevent joint restriction and maintain quality of life. We describe a case of a 7-year-old with stiff skin syndrome, and review the literature to discuss the clinical presentation, histological findings, and management of this condition.

Stiffness of the large arteries in individuals with and without Down syndrome

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Nunes Rodrigues A

2011-06-01

Full Text Available Anabel N Rodrigues1,2, Luan Cesar Coelho1, Washington LS Goncalves1,2, Sonia Alves Gouvea2, Maria José Rossi Vasconcellos1, Roberto S Cunha2, Glaucia R Abreu21School of Medicine, University Center of Espírito Santo, Colatina; 2Postgraduate Program in Physiological Sciences, Center for Health Sciences, Federal University of Espirito Santo, Vitória, BrazilBackground: Down syndrome is known to cause premature aging in several organ systems. However, it remains unclear whether this aging effect also affects the structure and function of the large arterial trunks. In this controlled study, the possibility of changes in the large arteries due to aging was evaluated in patients with Down syndrome.Methods: Eighty-two subjects of both genders were selected. The Down syndrome group had 41 active subjects consisting of 19 males and 22 females (mean age 21 ± 1, range 13–42 years without cardiovascular complications and who did not use vasoactive drugs. The control group consisted of 41 healthy individuals without trisomy 21 of the same gender and age as the Down syndrome group and who did not use vasoactive medication. Carotid–femoral pulse wave velocity was obtained as an index of aortic stiffness using an automatic noninvasive method.Results: Individuals with Down syndrome had significantly lower blood pressure than those in the control group. Systolic blood pressure for the Down syndrome group and control group was 106 ± 2 mmHg vs 117 ± 2 mmHg (P < 0.001, respectively; diastolic blood pressure was 66 ± 2 mmHg vs 77 ± 2 mmHg (P <0.001; and mean arterial pressure was 80 ± 1 mmHg vs 90 ± 1 mmHg (P < 0.001. Only age and systolic blood pressure were shown to correlate significantly with pulse wave velocity, but the slopes of the linear regression curves of these two variables showed no significant difference between the two study groups. Pulse wave velocity, which was initially significantly lower in the Down syndrome group (7.51 ± 0.14 m/s vs

Remission of severe restless legs syndrome and periodic limb movements in sleep after bilateral excision of multiple foot neuromas: a case report

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Lettau Ludwig A

2010-09-01

Full Text Available Abstract Introduction Restless legs syndrome is a sensorimotor neurological disorder characterized by an urge to move the legs in response to uncomfortable leg sensations. While asleep, 70 to 90 percent of patients with restless legs syndrome have periodic limb movements in sleep. Frequent periodic limb movements in sleep and related brain arousals as documented by polysomnography are associated with poorer quality of sleep and daytime fatigue. Restless legs syndrome in middle age is sometimes associated with neuropathic foot dysesthesias. The causes of restless legs syndrome and periodic limb movements in sleep are unknown, but the sensorimotor symptoms are hypothesized to originate in the central nervous system. We have previously determined that bilateral forefoot digital nerve impingement masses (neuromas may be a cause of both neuropathic foot dysesthesias and the leg restlessness of restless legs syndrome. To the best of our knowledge, this case is the first report of bilateral foot neuromas as a cause of periodic limb movements in sleep. Case presentation A 42-year-old Caucasian woman with severe restless legs syndrome and periodic limb movements in sleep and bilateral neuropathic foot dysesthesias was diagnosed as having neuromas in the second, third, and fourth metatarsal head interspaces of both feet. The third interspace neuromas represented regrowth (or 'stump' neuromas that had developed since bilateral third interspace neuroma excision five years earlier. Because intensive conservative treatments including repeated neuroma injections and various restless legs syndrome medications had failed, radical surgery was recommended. All six neuromas were excised. Leg restlessness, foot dysesthesias and subjective sleep quality improved immediately. Assessment after 18 days showed an 84 to 100 percent reduction of visual analog scale scores for specific dysesthesias and marked reductions of pre-operative scores of the Pittsburgh sleep

Optokinetic stimulation increases limb pain and forehead hyperalgesia in complex regional pain syndrome

DEFF Research Database (Denmark)

Knudsen, Lone F.; Drummond, Peter D.

2015-01-01

BACKGROUND: Ambiguous visual stimuli increase limb pain in patients with complex regional pain syndrome (CRPS), possibly due to afferent sensory feedback conflicts. Conflicting sensory stimuli can also generate unpleasant sensations in healthy people such as during motion sickness. We wanted to i...

Multiple Cranial Neuropathies Without Limb Involvements: Guillain-Barre Syndrome Variant?

OpenAIRE

Yu, Ju Young; Jung, Han Young; Kim, Chang Hwan; Kim, Hyo Sang; Kim, Myeong Ok

2013-01-01

Acute multiple cranial neuropathies are considered as variant of Guillain-Barre syndrome, which are immune-mediated diseases triggered by various cases. It is a rare disease which is related to infectious, inflammatory or systemic diseases. According to previous case reports, those affected can exhibit almost bilateral facial nerve palsy, then followed by bulbar dysfunctions (cranial nerves IX and X) accompanied by limb weakness and walking difficulties due to motor and/or sensory dysfunction...

Static stiffness modeling of a novel hybrid redundant robot machine

International Nuclear Information System (INIS)

Li Ming; Wu Huapeng; Handroos, Heikki

2011-01-01

This paper presents a modeling method to study the stiffness of a hybrid serial-parallel robot IWR (Intersector Welding Robot) for the assembly of ITER vacuum vessel. The stiffness matrix of the basic element in the robot is evaluated using matrix structural analysis (MSA); the stiffness of the parallel mechanism is investigated by taking account of the deformations of both hydraulic limbs and joints; the stiffness of the whole integrated robot is evaluated by employing the virtual joint method and the principle of virtual work. The obtained stiffness model of the hybrid robot is analytical and the deformation results of the robot workspace under certain external load are presented.

Relationship between lower limbs proprioception and muscular strength among adolescents with patellofemoral pain syndrome

OpenAIRE

Konovalčik, Šymon Vladyslav

2016-01-01

Relationship Between Lower Limbs Proprioception and Muscular Strength Among Adolescents with Patellofemoral Pain Syndrome Physiotherapy Bachelor's Thesis The Author: Šymon Vladyslav Konovalčik Academic advisor: Lina Varnienė The aim of research work: The aim of this study was to evaluate the relationship between knee joint proprioception and knee extensor and flexor muscle strength, dinamic endurance and balance among adolescents with patellofemoral pain syndrome Tasks of work: 1. To assess t...

FITTS LAW AS A LOW-PASS FILTER EFFECT OF MUSCLE-STIFFNESS

NARCIS (Netherlands)

VANGALEN, GP; SCHOMAKER, LRB; Schomaker, Lambertus

It is proposed that the speed of aiming movements is the optimized outcome of a stochastic, oscillatory recruitment signal to the muscles and filtering properties of the effector limb. The filtering characteristic of the limb is seen to be modulated through a stiffness parameter, to be set by the

Greater Arterial Stiffness in Polycystic Ovary Syndrome (PCOS) Is an Obesity-But Not a PCOS-Associated Phenomenon

NARCIS (Netherlands)

Ketel, I.J.G.; Stehouwer, C.D.A.; Henry, R.M.; Serné, E.H.; Hompes, P.G.A.; Homburg, R.R.; Smulders, Y.M.; Lambalk, C.B.

2010-01-01

Context: Polycystic ovary syndrome (PCOS) and obesity are associated with cardiovascular disease, but it is unclear to what extent they contribute independently. Arterial stiffness might link obesity and PCOS to cardiovascular diseases. Objective: Our objective was to investigate whether PCOS in the

The Presence of Periodic Limb Movement Disorder in a Patient with Diabetes Mellitus and Optic Atrophy (Wolfram Syndrome

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Bo Seong Kwon

2014-12-01

Full Text Available Wolfram syndrome (WFS is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD, together known as DIDMOAD. This syndrome is a rare autosomal recessive neurodegenerative disorder and typically begins wtih insulin-dependent diabetes mellitus. Periodic limb movement disorder (PLMD is characterized by periodic episodes of repetitive, highly stereotyped, limb movement during sleep, which results in disturbed sleep. Its pathophysiology is unclear. It is associated with many conditions, but we were unable to find a previous report regarding WFS accompanied by PLMD. We therefore report, for the first time, about a patient with WFS presenting with PLMD and discuss its pathomechanism with a literature review.

A pilot study to compare the cerebral hemodynamics between patients with obstructive sleep apnea syndrome (OSA) and periodic limb movement syndrome (PLMS) during nocturnal sleep with near-infrared spectroscopy (NIRS)

Science.gov (United States)

Zhang, Zhongxing; Schneider, Maja; Laures, Marco; Fritschi, Ursula; Hügli, Gordana; Lehner, Isabella; Qi, Ming; Khatami, Ramin

2014-03-01

Obstructive sleep apnea syndrome (OSA) and periodic limb movement in sleep syndrome (PLMS) are two common sleep disorders. Previous studies showed that OSA and PLMS share common features, such as increased cardio-vascular risk, both apnea events and limb movements occur periodically, they are usually associated with cortical arousals, and both of them can induce declines in peripheral oxygen saturation measured with pulse oximetry. However, the question whether apnea events and limb movements also show similar characteristics in cerebral hemodynamic and oxygenation has never been addressed. In this pilot study, we will first time compare the cerebral hemodynamic changes induced by apnea events and limb movements in patients with OSA (n=4) and PLMS (n=4) with NIRS. In patients with OSA, we found periodic oscillations in HbO2, HHb, and blood volume induced by apnea/hypopnea events, HbO2 and HHb showed reverse changing trends. By contrast, the periodic oscillations linked to limb movements were only found in HbO2 and blood volume in patients with PLMS. These findings of different cerebral hemodynamics patterns between apnea events and limb movements may indicate different regulations of nervous system between these two sleep disorders.

Distinct effects of losartan and atenolol on vascular stiffness in Marfan syndrome.

Science.gov (United States)

Bhatt, Ami B; Buck, J Stewart; Zuflacht, Jonah P; Milian, Jessica; Kadivar, Samoneh; Gauvreau, Kimberlee; Singh, Michael N; Creager, Mark A

2015-08-01

We conducted a randomized, double-blind trial of losartan (100 mg QD) versus atenolol (50 mg QD) for 6 months in adults with Marfan syndrome. Carotid-femoral pulse wave velocity (PWV), central augmentation index (AIx), aortic diameter and left ventricular (LV) function were assessed with arterial tonometry and echocardiography. Thirty-four subjects (18 female; median age 35 years, IQR 27, 45) were randomized. Central systolic and diastolic blood pressure decreased comparably with atenolol and losartan (p = 0.64 and 0.31, respectively); heart rate decreased with atenolol (p = 0.02), but not with losartan. PWV decreased in patients treated with atenolol (-1.15 ± 1.68 m/s; p = 0.01), but not in those treated with losartan (-0.22 ± 0.59 m/s; p = 0.15; between-group difference p = 0.04). In contrast, AIx decreased in the losartan group (-9.6 ± 8.6%; p Marfan syndrome, 6 months of treatment with atenolol improves PWV, whereas losartan reduces the AIx. By improving vascular stiffness via distinct mechanisms of action, there is physiologic value to considering the use of both medications in individuals with Marfan syndrome. © The Author(s) 2015.

Muscle Synergies Heavily Influence the Neural Control of Arm Endpoint Stiffness and Energy Consumption.

Science.gov (United States)

Inouye, Joshua M; Valero-Cuevas, Francisco J

2016-02-01

Much debate has arisen from research on muscle synergies with respect to both limb impedance control and energy consumption. Studies of limb impedance control in the context of reaching movements and postural tasks have produced divergent findings, and this study explores whether the use of synergies by the central nervous system (CNS) can resolve these findings and also provide insights on mechanisms of energy consumption. In this study, we phrase these debates at the conceptual level of interactions between neural degrees of freedom and tasks constraints. This allows us to examine the ability of experimentally-observed synergies--correlated muscle activations--to control both energy consumption and the stiffness component of limb endpoint impedance. In our nominal 6-muscle planar arm model, muscle synergies and the desired size, shape, and orientation of endpoint stiffness ellipses, are expressed as linear constraints that define the set of feasible muscle activation patterns. Quadratic programming allows us to predict whether and how energy consumption can be minimized throughout the workspace of the limb given those linear constraints. We show that the presence of synergies drastically decreases the ability of the CNS to vary the properties of the endpoint stiffness and can even preclude the ability to minimize energy. Furthermore, the capacity to minimize energy consumption--when available--can be greatly affected by arm posture. Our computational approach helps reconcile divergent findings and conclusions about task-specific regulation of endpoint stiffness and energy consumption in the context of synergies. But more generally, these results provide further evidence that the benefits and disadvantages of muscle synergies go hand-in-hand with the structure of feasible muscle activation patterns afforded by the mechanics of the limb and task constraints. These insights will help design experiments to elucidate the interplay between synergies and the mechanisms

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

OpenAIRE

Fryns, J P; Moerman, P

1993-01-01

A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia).

Fibromyalgia syndrome: considerations for dental hygienists.

Science.gov (United States)

Walters, Amber; Tolle, Susan L; McCombs, Gayle M

2015-04-01

Fibromyalgia syndrome (FMS) is a neurosensory disorder characterized by widespread musculoskeletal pain. Typically persistent fatigue, depression, limb stiffness, non-refreshing sleep and cognitive deficiencies are also experienced. Oral symptoms and pain are common, requiring adaptations in patient management strategies and treatment interventions. Appropriate dental hygiene care of patients suffering with this disorder is contingent upon an understanding of disease epidemiology, pathophysiology, clinical characteristics, oral signs and symptoms, as well as treatment approaches. With this information dental hygienists will be better prepared to provide appropriate and effective treatment to patients with FMS. Copyright © 2015 The American Dental Hygienists’ Association.

Anaesthesia For ECT In Neuroleptic Malignant Syndrome - What Is Ideal?

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Priyaneka Baskaran

2017-09-01

Full Text Available We report a case involving a 46 year old male with schizophrenia who presented with fever, inability to speak, sialorrhoea, limb stiffness, profuse sweating, tremors and rigidity of bilateral upper and lower limbs following an increase in dosage of his antipsychotics.  A provisional diagnosis of neuroleptic malignant syndrome (NMS was made based on the Levensen criteria. His anti psychotics were promptly discontinued and he was transferred to ICU for critical care support. We utilised lorazepam and prescribed bromocriptine and his NMS symptoms improved. However, in view of residual catatonic symptoms, decision was made to commence ECT. A combination of rocuronium sugammadex was used successfully in all his ECT procedures and found to be an excellent alternative to succinycholine in this patient.

Short limbed dwarfism, genital hypoplasia, sparse hair, and vertebral anomalies: a variant of Ellis-van Creveld syndrome?

Science.gov (United States)

Fryns, J P; Moerman, P

1993-01-01

A male newborn with acromesomelic short limbed dwarfism, genital hypoplasia, and vertebral anomalies is reported. As the child had an important number of clinical and radiological symptoms seen in patients with Ellis-van Creveld syndrome, we raise the question of whether he may represent a variant example of this syndrome despite the absence of cardinal symptoms such as postaxial polydactyly and ectodermal changes (nail hypoplasia). Images PMID:8487282

Cervical Epidural Anaesthesia for Radical Mastectomy and Chronic Regional Pain Syndrome of Upper Limb - A Case Report

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Ashok Jadon

2009-01-01

Full Text Available A 47-yrs-female patient presented with carcinoma right breast, swelling and allodynia of right upper limb. radical mastectomy with axillary clearance and skin grafting was done under cervical epidural anaesthesia through 18G epidural catheter placed at C6/C7 level. Postoperative analgesia and rehabilitation of affected right upper limb was managed by continuous epidural infusion of 0.125% bupivacaine and 2.5 µg/ml -1 clonidine solution through epidu-ral catheter for 5 days and physiotherapy. This case report highlights the usefulness of cervical epidural analgesia in managing a complex situation of carcinoma breast with associated periarthitis of shoulder joint and chronic regional pain syndrome (CRPS of right upper limb.

Arterial stiffness and its association with clustering of metabolic syndrome risk factors

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Wanda R. P. Lopes-Vicente

2017-10-01

Full Text Available Abstract Background Metabolic syndrome (MetS is associated with structural and functional vascular abnormalities, which may lead to increased arterial stiffness, more frequent cardiovascular events and higher mortality. However, the role played by clustering of risk factors and the combining pattern of MetS risk factors and their association with the arterial stiffness have yet to be fully understood. Age, hypertension and diabetes mellitus seem to be strongly associated with increased pulse wave velocity (PWV. This study aimed at determining the clustering and combining pattern of MetS risk factors and their association with the arterial stiffness in non-diabetic and non-hypertensive patients. Methods Recently diagnosed and untreated patients with MetS (n = 64, 49 ± 8 year, 32 ± 4 kg/m2 were selected, according to ATP III criteria and compared to a control group (Control, n = 17, 49 ± 6 year, 27 ± 2 kg/m2. Arterial stiffness was evaluated by PWV in the carotid-femoral segment. Patients were categorized and analyzed according MetS risk factors clustering (3, 4 and 5 factors and its combinations. Results Patients with MetS had increased PWV when compared to Control (7.8 ± 1.1 vs. 7.0 ± 0.5 m/s, p < 0.001. In multivariate analysis, the variables that remained as predictors of PWV were age (β = 0.450, p < 0.001, systolic blood pressure (β = 0.211, p = 0.023 and triglycerides (β = 0.212, p = 0.037. The increased number of risk factors reflected in a progressive increase in PWV. When adjusted to systolic blood pressure, PWV was greater in the group with 5 risk factors when compared to the group with 3 risk factors and Control (8.5 ± 0.4 vs. 7.5 ± 0.2, p = 0.011 and 7.2 ± 0.3 m/s, p = 0.012. Similarly, the 4 risk factors group had higher PWV than the Control (7.9 ± 0.2 vs. 7.2 ± 0.3, p = 0.047. Conclusions The number of risk factors seems to increase arterial stiffness. Notably, besides

Lower Body Stiffness Modulation Strategies in Well Trained Female Athletes.

Science.gov (United States)

Millett, Emma L; Moresi, Mark P; Watsford, Mark L; Taylor, Paul G; Greene, David A

2016-10-01

Millett, EL, Moresi, MP, Watsford, ML, Taylor, PG, and Greene, DA. Lower body stiffness modulation strategies in well trained female athletes. J Strength Cond Res 30(10): 2845-2856, 2016-Lower extremity stiffness quantifies the relationship between the amount of leg compression and the external load to which the limb are subjected. This study aimed to assess differences in leg and joint stiffness and the subsequent kinematic and kinetic control mechanisms between athletes from various training backgrounds. Forty-seven female participants (20 nationally identified netballers, 13 high level endurance athletes and 14 age and gender matched controls) completed a maximal unilateral countermovement jump, drop jump and horizontal jump to assess stiffness. Leg stiffness, joint stiffness and associated mechanical parameters were assessed with a 10 camera motion analysis system and force plate. No significant differences were evident for leg stiffness measures between athletic groups for any of the tasks (p = 0.321-0.849). However, differences in joint stiffness and its contribution to leg stiffness, jump performance outcome measures and stiffness control mechanisms were evident between all groups. Practitioners should consider the appropriateness of the task utilised in leg stiffness screening. Inclusion of mechanistic and/or more sports specific tasks may be more appropriate for athletic groups.

The mechanics of landing when stepping down in unilateral lower-limb amputees.

Science.gov (United States)

Jones, S F; Twigg, P C; Scally, A J; Buckley, J G

2006-02-01

The ability to successfully negotiate stairs and steps is an important factor for functional independence. While work has been undertaken to understand the biomechanics of gait in lower-limb amputees, little is known about how amputees negotiate stairs and steps. This study aimed to determine the mechanics of landing in unilateral lower-limb amputees when stepping down to a new level. A secondary aim was to assess the effects of using a shank-mounted shock-absorbing device (Tele-Torsion Pylon) on the mechanics of landing. Ten unilateral amputees (five transfemoral and five transtibial) and eight able-bodied controls performed single steps down to a new level (73 and 219 mm). Trials were repeated in amputees with the Tele-Torsion Pylon active and inactive. The mechanics of landing were evaluated by analysing peak limb longitudinal force, maximal limb shortening, lower extremity stiffness, and knee joint angular displacement during the initial contact period, and limb and ankle angle at the instant of ground-contact. Data were collected using a Vicon 3D motion analysis system and two force platforms. Amputees landed on a straightened and near vertical limb. This limb position was maintained in transfemoral amputees, whereas in transtibial amputees knee flexion occurred. As a result lower extremity stiffness was significantly greater in transfemoral amputees compared to transtibial amputees and able-bodied controls (P<0.001). The Tele-Torsion Pylon had little effect on the mechanics of landing in transtibial amputees, but brought about a reduction in lower extremity stiffness in transfemoral amputees (P<0.05). Amputees used a stepping strategy that ensured the direction of the ground reaction force vector was kept anterior of the knee joint centre. Using a Tele-Torsion Pylon may improve the mechanics of landing during downward stepping in transfemoral amputees.

Impaired driving simulation in patients with Periodic Limb Movement Disorder and patients with Obstructive Sleep Apnea Syndrome

NARCIS (Netherlands)

Gieteling, Esther W.; Bakker, Marije S.; Hoekema, Aarnoud; Maurits, Natasha M.; Brouwer, Wiebo H.; van der Hoeven, Johannes H.

Background: Excessive daytime sleepiness (EDS) is considered to be responsible for increased collision rate and impaired driving simulator performance in Obstructive Sleep Apnea Syndrome (OSAS) patients. Periodic Limb Movement Disorder (PLMD) patients also frequently report EDS and may also have

Ultrasound assessment on selected peripheral nerve pathologies. Part I: Entrapment neuropathies of the upper limb – excluding carpal tunnel syndrome

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Berta Kowalska

2012-09-01

Full Text Available Ultrasound (US is one of the methods for imaging entrapment neuropathies, post-trau‑ matic changes to nerves, nerve tumors and postoperative complications to nerves. This type of examination is becoming more and more popular, not only for economic reasons, but also due to its value in making accurate diagnosis. It provides a very precise assess‑ ment of peripheral nerve trunk pathology – both in terms of morphology and localization. During examination there are several options available to the specialist: the making of a dynamic assessment, observation of pain radiation through the application of precise palpation and the comparison of resultant images with the contra lateral limb. Entrap‑ ment neuropathies of the upper limb are discussed in this study, with the omission of median nerve neuropathy at the level of the carpal canal, as extensive literature on this subject exists. The following pathologies are presented: pronator teres muscle syndrome, anterior interosseus nerve neuropathy, ulnar nerve groove syndrome and cubital tun‑ nel syndrome, Guyon’s canal syndrome, radial nerve neuropathy, posterior interosseous nerve neuropathy, Wartenberg’s disease, suprascapular nerve neuropathy and thoracic outlet syndrome. Peripheral nerve examination technique has been presented in previous articles presenting information about peripheral nerve anatomy [Journal of Ultrasonog‑ raphy 2012; 12 (49: 120–163 – Normal and sonographic anatomy of selected peripheral nerves. Part I: Sonohistology and general principles of examination, following the exam‑ ple of the median nerve; Part II: Peripheral nerves of the upper limb; Part III: Peripheral nerves of the lower limb]. In this article potential compression sites of particular nerves are discussed, taking into account pathomechanisms of damage, including predisposing anatomical variants (accessory muscles. The parameters of ultrasound assessment have been established – echogenicity and

Ambulatory (24 h) blood pressure and arterial stiffness measurement in Marfan syndrome patients: a case control feasibility and pilot study.

Science.gov (United States)

Hillebrand, Matthias; Nouri, Ghazaleh; Hametner, Bernhard; Parragh, Stephanie; Köster, Jelena; Mortensen, Kai; Schwarz, Achim; von Kodolitsch, Yskert; Wassertheurer, Siegfried

2016-05-06

The aim of this work is the investigation of measures of ambulatory brachial and aortic blood pressure and indices of arterial stiffness and aortic wave reflection in Marfan patients. A case-control study was conducted including patients with diagnosed Marfan syndrome following Ghent2 nosology and healthy controls matched for sex, age and daytime brachial systolic blood pressure. For each subject a 24 h ambulatory blood pressure and 24 h pulse wave analysis measurement was performed. All parameters showed a circadian pattern whereby pressure dipping was more pronounced in Marfan patients. During daytime only Marfan patients with aortic root surgery showed increased pulse wave velocity. In contrast, various nighttime measurements, wave reflection determinants and circadian patterns showed a significant difference. The findings of our study provide evidence that ambulatory measurement of arterial stiffness parameters is feasible and that these determinants are significantly different in Marfan syndrome patients compared to controls in particular at nighttime. Further investigation is therefore indicated.

Aerobic exercise training reduces arterial stiffness in metabolic syndrome.

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Donley, David A; Fournier, Sara B; Reger, Brian L; DeVallance, Evan; Bonner, Daniel E; Olfert, I Mark; Frisbee, Jefferson C; Chantler, Paul D

2014-06-01

The metabolic syndrome (MetS) is associated with a threefold increase risk of cardiovascular disease (CVD) mortality partly due to increased arterial stiffening. We compared the effects of aerobic exercise training on arterial stiffening/mechanics in MetS subjects without overt CVD or type 2 diabetes. MetS and healthy control (Con) subjects underwent 8 wk of exercise training (ExT; 11 MetS and 11 Con) or remained inactive (11 MetS and 10 Con). The following measures were performed pre- and postintervention: radial pulse wave analysis (applanation tonometry) was used to measure augmentation pressure and index, central pressures, and an estimate of myocardial efficiency; arterial stiffness was assessed from carotid-femoral pulse-wave velocity (cfPWV, applanation tonometry); carotid thickness was assessed from B-mode ultrasound; and peak aerobic capacity (gas exchange) was performed in the seated position. Plasma matrix metalloproteinases (MMP) and CVD risk (Framingham risk score) were also assessed. cfPWV was reduced (P Exercise training reduced (P exercise training, thereby lowering their cardiovascular risk. Copyright © 2014 the American Physiological Society.

Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome.

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Mitsumoto, H; Schwartzman, M J; Estes, M L; Chou, S M; La Franchise, E F; De Camilli, P; Solimena, M

1991-04-01

Two women with typical stiff-man syndrome (SMS) developed increasingly frequent attacks of muscle spasms with severe paroxysmal autonomic dysfunctions such as transient hyperpyrexia, diaphoresis, tachypnea, tachycardia, pupillary dilation, and arterial hypertension. Autoantibodies to GABA-ergic neurons were identified in the serum of both patients and in the cerebrospinal fluid of one. Both died suddenly and unexpectedly. General autopsy did not reveal the cause of death. Neuropathological studies revealed perivascular gliosis in the spinal cord and brain stem of one patient and lymphocytic perivascular infiltration in the spinal cord, brain stem, and basal ganglia of the other. The occurrence of a chronic inflammatory reaction in one of the two patients supports the idea that an autoimmune disease against GABA-ergic neurons may be involved in SMS. A review of the literature indicates that functional impairment in SMS is severe and prognosis is unpredictable because of the potential for sudden and unexpected death. Both muscular abnormalities and autonomic dysfunctions may result from autoimmunity directed against GABA-ergic neurons.

Supernumerary and absent limbs and digits of the lower limb: a review of the literature.

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Klaassen, Zachary; Shoja, Mohammadali M; Tubbs, R Shane; Loukas, Marios

2011-07-01

Anatomical history over centuries includes description of a wide variety of malformations involving the lower limbs. This article offers an organized review of these diverse abnormalities, including new understanding of mechanisms through recent discoveries in genetics and molecular biology. In 19th century Europe, a number of unique anomalies were reported, as well as evidence of foot amputations occurring in ancient Peruvian culture. Embryologically, the limbs develop early, with the lower limb being recognizable for the first time at stage 13 of development. By stage 23, the toes are clearly defined and by birth, although the legs appear bowed, the tibia and fibula are straight. Removal of the apical ectodermal ridge results in cessation of limb development, conversely, a second apical ectodermal ridge results in duplication of distal structures. Supernumerary limbs have been documented to occur as part of a teratoma with unique morphology and accompanying blood supply. Additionally, many examples of polydactyly occur in the foot postulating that deletion of chromosome 22q11 is involved in postaxial polydactyly. Such deletions occur near the middle of the chromosome at a location designated q11.2 (i.e., on the long arm of one of the pair of chromosomes 22) and this syndrome is also referred to as DiGeorge syndrome, which has a prevalence estimated at 1:4,000. Absence of the lower limbs has also been noted, with hypoplasia of the fibula being the most common manifestation of congenital bone absences in the lower limb. In addition to fibular aplasia, cases of tibial aplasia have been reported. This article is important for surgeons attempting correctional repair of lower limb anomalies, as well as providing analysis of the historical, anatomical and clinical aspects of supernumerary and absent limbs and digits for the lower limb. Copyright © 2011 Wiley-Liss, Inc.

Dissociation of endothelial function and arterial stiffness in nonobese women with polycystic ovary syndrome (PCOS).

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Cussons, Andrea J; Watts, Gerald F; Stuckey, Bronwyn G A

2009-12-01

Polycystic ovary syndrome (PCOS) is associated with cardiovascular risk but it is not clear if this is independent of obesity and insulin resistance. This study therefore investigates endothelial function and arterial stiffness in nonobese, noninsulin resistant women with PCOS. This is cross-sectional case-control study. A total of 19 young women with PCOS, with body mass index (BMI) PCOS and control subjects when assessing the following clinical and biochemical variables: blood pressure, homeostasis model assessment insulin-resistance index, lipids and oestradiol. Women with PCOS had higher free androgen index scores (5.14 ± 3.47 vs. 3.25 ± 1.42, P = 0.036). The PCOS subjects had significantly lower FMD of the brachial artery compared with the controls (6.5 ± 2.9%vs. 10.5 ± 4.0%, P insulin resistance, have abnormal vascular function, but normal arterial stiffness, when compared with age and weight matched control subjects. Whether this leads to a greater risk of cardiovascular disease requires further investigation. © 2009 Blackwell Publishing Ltd.

Determination of Ankle and Metatarsophalangeal Stiffness During Walking and Jogging.

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Mager, Fabian; Richards, Jim; Hennies, Malika; Dötzel, Eugen; Chohan, Ambreen; Mbuli, Alex; Capanni, Felix

2018-05-29

Forefoot stiffness has been shown to influence joint biomechanics. However, little or no data exists on metatarsophalangeal stiffness. Twenty-four healthy rearfoot strike runners were recruited from a staff and student population at the University of Central Lancashire. Five repetitions of shod, self-selected speed level walking and jogging were performed. Kinetic and kinematic data were collected using retro-reflective markers placed on the lower limb and foot, to create a three-segment foot model using the Calibrated Anatomical System Technique. Ankle and metatarsophalangeal moments and angles were calculated. Stiffness values were calculated using a linear best fit line of moment versus of angle plots. Paired t-tests were used to compare values between walking and jogging conditions. Significant differences were seen in ankle range of motion (ROM), but not in metatarsophalangeal ROM. Maximum moments were significantly greater in the ankle during jogging, but these were not significantly different at the metatarsophalangeal joint. Average ankle joint stiffness exhibited significantly lower stiffness when walking compared to jogging. However, the metatarsophalangeal joint exhibited significantly greater stiffness when walking compared to jogging. A greater understanding of forefoot stiffness may inform the development of footwear, prosthetic feet and orthotic devices, such as ankle-foot orthoses for walking and sporting activities.

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence

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Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels

2016-01-01

Background: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac...... defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge...... in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Case presentation: Our first case was a white girl...

Interlimb symmetry of dynamic knee joint stiffness and co-contraction is maintained in early stage knee osteoarthritis.

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Collins, A T; Richardson, R T; Higginson, J S

2014-08-01

Individuals with knee OA often exhibit greater co-contraction of antagonistic muscle groups surrounding the affected joint which may lead to increases in dynamic joint stiffness. These detrimental changes in the symptomatic limb may also exist in the contralateral limb, thus contributing to its risk of developing knee osteoarthritis. The purpose of this study is to investigate the interlimb symmetry of dynamic knee joint stiffness and muscular co-contraction in knee osteoarthritis. Muscular co-contraction and dynamic knee joint stiffness were assessed in 17 subjects with mild to moderate unilateral medial compartment knee osteoarthritis and 17 healthy control subjects while walking at a controlled speed (1.0m/s). Paired and independent t-tests determined whether significant differences exist between groups (pknees compared to the healthy group (p=0.051). Subjects with mild to moderate knee osteoarthritis maintain symmetric control strategies during gait. Copyright © 2014 Elsevier Ltd. All rights reserved.

Muscle stiffness of posterior lower leg in runners with a history of medial tibial stress syndrome.

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Saeki, J; Nakamura, M; Nakao, S; Fujita, K; Yanase, K; Ichihashi, N

2018-01-01

Previous history of medial tibial stress syndrome (MTSS) is a risk factor for MTSS relapse, which suggests that there might be some physical factors that are related to MTSS development in runners with a history of MTSS. The relationship between MTSS and muscle stiffness can be assessed in a cross-sectional study that measures muscle stiffness in subjects with a history of MTSS, who do not have pain at the time of measurement, and in those without a history of MTSS. The purpose of this study was to compare the shear elastic modulus, which is an index of muscle stiffness, of all posterior lower leg muscles of subjects with a history of MTSS and those with no history and investigate which muscles could be related to MTSS. Twenty-four male collegiate runners (age, 20.0±1.7 years; height, 172.7±4.8 cm; weight, 57.3±3.7 kg) participated in this study; 14 had a history of MTSS, and 10 did not. The shear elastic moduli of the lateral gastrocnemius, medial gastrocnemius, soleus, peroneus longus, peroneus brevis, flexor hallucis longus, flexor digitorum longus, and tibialis posterior were measured using shear wave elastography. The shear elastic moduli of the flexor digitorum longus and tibialis posterior were significantly higher in subjects with a history of MTSS than in those with no history. However, there was no significant difference in the shear elastic moduli of other muscles. The results of this study suggest that flexor digitorum longus and tibialis posterior stiffness could be related to MTSS. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Comparison between Flail Arm Syndrome and Upper Limb Onset Amyotrophic Lateral Sclerosis: Clinical Features and Electromyographic Findings.

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Yoon, Byung-Nam; Choi, Seong Hye; Rha, Joung-Ho; Kang, Sa-Yoon; Lee, Kwang-Woo; Sung, Jung-Joon

2014-09-01

Flail arm syndrome (FAS), an atypical presentation of amyotrophic lateral sclerosis (ALS), is characterized by progressive, predominantly proximal, weakness of upper limbs, without involvement of the lower limb, bulbar, or respiratory muscles. When encountering a patient who presents with this symptomatic profile, possible diagnoses include upper limb onset ALS (UL-ALS), and FAS. The lack of information regarding FAS may make differential diagnosis between FAS and UL-ALS difficult in clinical settings. The aim of this study was to compare clinical and electromyographic findings from patients diagnosed with FAS with those from patients diagnosed with UL-ALS. To accomplish this, 18 patients with FAS and 56 patients with UL-ALS were examined. Significant differences were observed between the 2 groups pertaining to the rate of fasciculation, patterns of predominantly affected muscles, and the Medical Research Council scale of the weakest muscle. The presence of upper motor neuron signs and lower motor neuron involvement evidenced through electromyography showed no significant between-group differences.

The Effect of Shoe Insole Stiffness on Leg Stiffness during Stance Phase of Running in Two Different Speeds ‎among Active Men

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Zeinab Tazike-Lemeski

2016-08-01

Full Text Available Introduction: The effect of shoe insoles with different characteristics and in different running speeds on lower-limb stiffness is still ‎controversial. The aim of this study was to investigate the effect of two types of insoles (soft and semi-rigid in two ‎different running speeds on leg stiffness during stance phase of running among active men.‎ Materials and Methods: ‎15 male students without any background of lower extremity injury were selected. Subjects were asked to run with ‎two controlled velocities of 3.0 ± 0.2 and 5.0 ± 0.1 m/s in control and insole conditions (soft and semi-rigid on a ‎force plate, placed on the middle of 15-meter runway. The cinematics and cinetics of motion were measured and ‎calculated using 5 video cameras and one force plate. The leg stiffness was achieved via dividing the vertical ‎ground reaction force by leg compression. Two-factor repeated measures ANOVA was used to test the hypothesis at ‎the significance level of P £ 0.050.‎ Results: There was a significant difference between the two types of insoles on leg stiffness. In fact, semi-rigid insole significantly increased leg stiffness (P < 0.001. However, this discrepancy was not related to the running speed (P = 0.999. In addition, there was no significant difference between the two different speeds on leg stiffness (P = 0.632. Conclusion: It seems that the increase in shoe insole stiffness may increase the leg stiffness. Furthermore, the effect of insole ‎stiffness is not related to the running speed, and leg stiffness will remains constant in low to medium running speeds.‎

Arterial Stiffness in Children: Pediatric Measurement and Considerations

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Savant, Jonathan D.; Furth, Susan L.; Meyers, Kevin E.C.

2014-01-01

Background Arterial stiffness is a natural consequence of aging, accelerated in certain chronic conditions, and predictive of cardiovascular events in adults. Emerging research suggests the importance of arterial stiffness in pediatric populations. Methods There are different indices of arterial stiffness. The present manuscript focuses on carotid-femoral pulse wave velocity and pulse wave analysis, although other methodologies are discussed. Also reviewed are specific measurement considerations for pediatric populations and the literature describing arterial stiffness in children with certain chronic conditions (primary hypertension, obesity, diabetes, chronic kidney disease, hypercholesterolemia, genetic syndromes involving vasculopathy, and solid organ transplant recipients). Conclusions The measurement of arterial stiffness in children is feasible and, under controlled conditions, can give accurate information about the underlying state of the arteries. This potentially adds valuable information about the functionality of the cardiovascular system in children with a variety of chronic diseases well beyond that of the brachial artery blood pressure. PMID:26587447

[Epidemiological analysis of selected congenital limb malformations in Hengyang].

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Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

2013-07-01

To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

A Wolf in Sheep's Clothing: An "Alien Leg" in Corticobasal Syndrome

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Diana A. Olszewska

2017-04-01

Full Text Available Background: Alien limb phenomenon occurs in 50–60% of patients with corticobasal syndrome (CBS and usually presents with an “alien hand” phenomenon. The “alien foot” presentation is rarer and may be misdiagnosed, as foot involvement can lead to erroneous localization of the clinical problem to the knee, hip, or back. Subsequently misdiagnoses such as myelopathy, radiculopathy, functional disorder, stiff leg syndrome, neuromyotonia, and painful leg moving toes syndrome may occur.Case report: We describe two patients with alien foot symptoms that resulted in multiple opinions from different specialists, multiple diagnostic and therapeutic procedures, and delayed diagnosis. Eventually a diagnosis of CBS was made in both. Alien foot symptoms may be more common than initially thought and can result in a delayed diagnosis of CBS.Conclusion: The inclusion of this clinical finding in recently proposed diagnostic criteria highlights the need for increased clinical awareness. 

A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning.

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Feng Zhao

Full Text Available BACKGROUND: Patent ductus arteriosus (PDA is one of the most common forms of congenital heart disease. Mutations in transcription factor TFAP2B cause Char syndrome, a human disorder characterized by PDA, facial dysmorphysm and hand anomalies. Animal research data are needed to understand the mechanisms. The aim of our study was to elucidate the pathogenesis of Char syndrome at the molecular level. METHODOLOGY/PRINCIPAL FINDINGS: Gene expression of Tfap2b during mouse development was studied, and newborns of Tfap2b-deficient mice were examined to identify phenotypes. Gel shift assays had been carried out to search for Tfap2 downstream genes. Promoters of candidate genes were cloned into a reporter construct and used to demonstrate their regulation by Tfap2b in cell transfection. In situ hybridizations showed that the murine transcription factor Tfap2b was expressed during the entire development of mouse ductus arteriosus. Histological examination of ductus arteriosus from Tfap2b knockout mice 6 hours after birth revealed that they were not closed. Consequently, the lungs of Tfap2b(-/- mice demonstrated progressive congestion of the pulmonary capillaries, which was postulated to result secondarily from PDA. In addition, Tfap2b was expressed in the limb buds, particularly in the posterior limb field during development. Lack of Tfap2b resulted in bilateral postaxial accessory digits. Further study indicated that expressions of bone morphogenetic protein (Bmp genes, which are reported to be involved in the limb patterning and ductal development, were altered in limb buds of Tfap2b-deficient embryos, due to direct control of Bmp2 and Bmp4 promoter activity by Tfap2b. CONCLUSIONS/SIGNIFICANCE: Tfap2b plays important roles in the development of mouse ductus arteriosus and limb patterning. Loss of Tfap2b results in altered Bmp expression that may cause the heart-limb defects observed in Tfap2b mouse mutants and Char syndrome patients. The Tfap2b knockout

Venous compressions of the nerves in the lower limbs.

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Artico, M; Stevanato, G; Ionta, B; Cesaroni, A; Bianchi, E; Morselli, C; Grippaudo, F R

2012-06-01

The lower limbs are frequently involved in neurovascular compression syndromes, owing to their anatomical, vascular and muscular characteristics and to the orthostatic position. These syndromes were identified by exclusion, using neuroimaging techniques and treated by microsurgical techniques. Eight patients with a neurovascular compression syndrome due to venous vascular lesions in the lower limbs (popliteal fossa, proximal and medial third of the inferior limb, tarsal tunnel) were selected. The symptomatology was characterized by pain, Tinel's sign, hyperalgesia, allodynia, numbness along the nerve course and foot weakness: all were exacerbated by the standing position, thus suggesting a neurovascular compression syndrome. Diagnostic tools comprised Doppler ultrasonography, Electromyography, CT 3D and MRI. Treatment consisted of microsurgery with neurovascular dissection. Following surgical treatment, rapid pain relief and a partial recovery of neurological deficits (including the ability to walk) was observed within 8-10 months. An early diagnosis of NCS using various neuroimaging techniques and prompt treatment may improve the response to surgical therapy. The aim of the case studies described is to improve understanding of these pathologies thus enabling correct clinical decisions.

Increase in Leg Stiffness Reduces Joint Work During Backpack Carriage Running at Slow Velocities.

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Liew, Bernard; Netto, Kevin; Morris, Susan

2017-10-01

Optimal tuning of leg stiffness has been associated with better running economy. Running with a load is energetically expensive, which could have a significant impact on athletic performance where backpack carriage is involved. The purpose of this study was to investigate the impact of load magnitude and velocity on leg stiffness. We also explored the relationship between leg stiffness and running joint work. Thirty-one healthy participants ran overground at 3 velocities (3.0, 4.0, 5.0 m·s -1 ), whilst carrying 3 load magnitudes (0%, 10%, 20% weight). Leg stiffness was derived using the direct kinetic-kinematic method. Joint work data was previously reported in a separate study. Linear models were used to establish relationships between leg stiffness and load magnitude, velocity, and joint work. Our results found that leg stiffness did not increase with load magnitude. Increased leg stiffness was associated with reduced total joint work at 3.0 m·s -1 , but not at faster velocities. The association between leg stiffness and joint work at slower velocities could be due to an optimal covariation between skeletal and muscular components of leg stiffness, and limb attack angle. When running at a relatively comfortable velocity, greater leg stiffness may reflect a more energy efficient running pattern.

Sodium Hypochlorite-Modified Hemosorbents in the Treatment of Limb Ischemia-Reperfusion Syndrome: Experimental Study

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V. I. Sergiyenko

2007-01-01

Full Text Available Objective: to enhance the efficiency of treatment for limb ischemia-reperfusion syndrome in an experiment, by using the modified hemosorbents that have oxidative properties.Materials and methods. The investigation was conducted on 94 mongrel male dogs divided into 3 groups: 1 intact animals (n=20; 2 animals treated with hemocarboperfusion on the standard sorbent CKH-1K (n=36; 3 animals received hemocarboperfusion on sodium hypochloride-modified sorbent CKH-1K (n=38. A model of acute ischemia-reperfusion syndrome was created by the method of V. D. Pasechnikov et al. Partial oxygen tension (pO2 was determined by pin polarography. The levels of vasoactive eicosanoids were measured by enzyme immunoassay.Results. In the animals with leg ischemia syndrome, there is a significant pO2 reduction in the muscles of the hip and shin, which does not completely recover after reperfusion. Standard CKN-1K sorbent hemocarboperfusion reduces pO2 as compared with the reperfusion period while the use of modified CKH-1K hemosorbent increased pO2 in the study hind limb muscles to the level observed in intact animals. The development of ischemia and reperfusion is accompanied by the elevated levels of inflammatory mediators that have vasoconstrictive properties (thromboxane B2, endothelin-1, leukotrienes C4/D4/E4 and the lower concentration of the vasodilator prostacyclin. Standard CKN-1K sorbent hemocarboperfusion results in a further increase in the concentrations of thromboxane B2 and leukotrienes C4/D4/E4, a decrease in the concentration of endothelin-1, and an elevation of the levels of prostacyclin and prostaglandin E2. When sodium hypochlorite-modified CKN-1K sorbent hemocarboperfusion is employed, the concentrations of thromboxane B2, endothelin-1, and leukotrienes C4/D4/E4 decrease, and the level of prostacyclin increases.Conclusion. Hemocarboperfusion used in the treatment of leg ischemia-reperfusion syndrome leads to restoration of tissue oxygenation and

EFFECT OF OBSTRUCTIVE SLEEP APNEA SYNDROME ON ARTERIAL STIFFNESS IN PATIENTS AT HIGH CARDIOVASCULAR RISK

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V. E. Oleynikov

2016-01-01

Full Text Available Aim. To assess the impact of metabolic abnormalities in combination with obstructive sleep apnea on endothelial function and vascular stiffness parameters in patients with arterial hypertension 1-2 degrees. Material and methods. Patients (n=74 with metabolic syndrome and obstructive sleep apnea were included into the study. All patients underwent cardiorespiratory monitoring of sleep using SomnoCheck2 device (Wiennmann, Germany and were divided into two groups based on its results. Patients with apnea-hypopnea index (AHI <30 episodes per hour were included into group 1 and patients with AHI >30 episodes per hour – into group 2. Monitoring of ambulatory blood pressure (BP and arterial stiffness was performed by the device BPLab ("Peter Telegin", Russia. Endothelial function was assessed in a probe of flow-mediated dilation by the ultrasound device MyLab 90 (Esaote, Italy. Diameter of the common carotid artery (DCCA and the intima-media thickness (IMT were determined. Results. Patients with AHI >30 episodes per hour had higher mean daily and night systolic BP and pulse BP in aorta and brachial artery. Pulse wave velocity in aorta in per day averaged was also higher in these patients (8.2±0.8 vs 9.1±1.1 m/sec; p<0.05. Mean level of flow-mediated dilation was significantly lower in patients with severe sleep apnea> (8.8% (5.6; 13.1 vs 4.5% (2.2; 8.0; p<0.05. Prevalence of negative index of reactivity in group 2 was 2 times higher than this in group 1. An increase in IMT and DCCA in patients with severe obstructive sleep apnea was also revealed. Conclusion. Severe sleep apnea in patients with metabolic syndrome in combination with hypertension aggravates structural changes and endothelial dysfunction of the main arteries, as well as contributes to the progression of atherosclerosis.

Aortic dilatation in Marfan syndrome: role of arterial stiffness and fibrillin-1 variants.

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Salvi, Paolo; Grillo, Andrea; Marelli, Susan; Gao, Lan; Salvi, Lucia; Viecca, Maurizio; Di Blasio, Anna Maria; Carretta, Renzo; Pini, Alessandro; Parati, Gianfranco

2018-01-01

Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation and dissection and an abnormal fibrillin-1 synthesis. In this observational study, we evaluated aortic stiffness in MFS and its association with ascending aorta diameters and fibrillin-1 genotype. A total of 116 Marfan adult patients without history of cardiovascular surgery, and 144 age, sex, blood pressure and heart rate matched controls were enrolled. All patients underwent arterial stiffness evaluation through carotid-femoral pulse wave velocity (PWV) and central blood pressure waveform analysis (PulsePen tonometer). Fibrillin-1 mutations were classified based on the effect on the protein, into 'dominant negative' and 'haploinsufficient' mutations. PWV and central pulse pressure were significantly higher in MFS patients than in controls [respectively 7.31 (6.81-7.44) vs. 6.69 (6.52-6.86) m/s, P = 0.0008; 41.3 (39.1-43.5) vs. 34.0 (32.7-35.3) mmHg, P < 0.0001], with a higher age-related increase of PWV in MFS (β 0.062 vs. 0.036). Pressure amplification was significantly reduced in MFS [18.2 (15.9-20.5) vs. 33.4 (31.6-35.2)%, P < 0.0001]. Central pressure profile was altered even in MFS patients without aortic dilatation. Multiple linear regression models showed that PWV independently predicted aortic diameters at the sinuses of Valsalva (ß = 0.243, P = 0.002) and at the sinotubular junction (ß = 0.186, P = 0.048). PWV was higher in 'dominant negative' than 'haploinsufficient' fibrillin-1 mutations [7.37 (7.04-7.70) vs. 6.60 (5.97-7.23) m/s, P = 0.035], although this difference was not significant after adjustment. Aortic stiffness is increased in MFS, independently from fibrillin-1 genotype and is associated with diameters of ascending aorta. Alterations in central hemodynamics are present even when aortic diameter is within normal limits. Our findings suggest an accelerated arterial aging in MFS.

Effect of long-term isometric training on core/torso stiffness.

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Lee, Benjamin C Y; McGill, Stuart M

2015-06-01

Although core stiffness enhances athletic performance traits, controversy exists regarding the effectiveness of isometric vs. dynamic core training methods. This study aimed to determine whether long-term changes in stiffness can be trained, and if so, what is the most effective method. Twenty-four healthy male subjects (23 ± 3 years; 1.8 ± 0.06 m; 77.5 ± 10.8 kg) were recruited for passive and active stiffness measurements before and after a 6-week core training intervention. Twelve subjects (22 ± 2 years; 1.8 ± 0.08 m; 78.3 ± 12.3 kg) were considered naive to physical and core exercise. The other 12 subjects (24 ± 3 years; 1.8 ± 0.05 m; 76.8 ± 9.7 kg) were Muay Thai athletes (savvy). A repeated-measures design compared core training methods (isometric vs. dynamic, with a control group) and subject training experience (naive vs. savvy) before and after a 6-week training period. Passive stiffness was assessed on a "frictionless" bending apparatus and active stiffness assessed through a quick release mechanism. Passive stiffness increased after the isometric training protocol. Dynamic training produced a smaller effect, and as expected, there was no change in the control group. Active stiffness did not change in any group. Comparisons between subject and training groups did not reveal any interactions. Thus, an isometric training approach was superior in terms of enhancing core stiffness. This is important since increased core stiffness enhances load bearing ability, arrests painful vertebral micromovements, and enhances ballistic distal limb movement. This may explain the efficacy reported for back and knee injury reduction.

Design of a cosmetic glove stiffness compensation mechanism for toddler-sized hand prostheses

NARCIS (Netherlands)

Bos, R.A.; Plettenburg, D.H.

2017-01-01

The addition of a cosmetic glove to an upper limb prosthesis has a distinct effect on the cosmetic value, but its viscoelastic behaviour adds a substantial amount of stiffness and hysteresis to the system. As a result, the overall usability of the prosthesis is degraded. A novel negative

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

Science.gov (United States)

Olney, R S; Hoyme, H E; Roche, F; Ferguson, K; Hintz, S; Madan, A

2001-11-01

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Copyright 2001 Wiley-Liss, Inc.

Uncommon presentation of a common disorder

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P R Sowmini

2013-01-01

Full Text Available We report about a young male who presented with generalized muscle stiffness, involving the limb, facial, and paraspinal muscles. The stiffness was severe enough to restrict all his daily activities, progressively increased with movements and also produced recurrent falls. This clinical picture resembled one of stiff person syndrome. As he had hypertrophy of calf muscles and generalized muscle tautness he was evaluated for other disorders which can resemble stiff person syndrome. Investigations revealed severe hypothyroidism with thyroid antibodies being elevated. This case is reported to highlight the fact that myopathy as a presenting manifestation of hypothyroidism can simulate stiff person syndrome. It is essential to identify the condition early as it recovers fully with treatment. Our patient responded well to thyroid replacement therapy and was able to lead a normal life.

Muscle co-contraction modulates damping and joint stability in a three-link bio mechanical limb

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Stewart eHeitmann

2012-01-01

Full Text Available Computational models of neuromotor control require forward models of limb movement that can replicate the natural relationships between muscle activation and joint dynamics without the burdens of excessive anatomical detail. We present a model of a three-link biomechanical limb that emphasizes the dynamics of limb movement within a simplified two-dimensional framework. Muscle co-contraction effects were incorporated into the model by flanking each joint with a pair of antagonist muscles that may be activated independently. Muscle co-contraction is known to alter the damping and stiffness of limb joints without altering net joint torque. Idealized muscle actuators were implemented using the Voigt muscle model which incorporates the parallel elasticity of muscle and tendon but omits series elasticity. The natural force-length-velocity relationships of contractile muscle tissue were incorporated into the actuators using ideal mathematical forms. Numerical stability analysis confirmed that co-contraction of these simplified actuators increased damping in the biomechanical limb consistent with observations of human motor control. Dynamic changes in joint stiffness were excluded by the omission of series elasticity. The analysis also revealed the unexpected finding that distinct stable (bistable equilibrium positions can co-exist under identical levels of muscle co-contraction. We map the conditions under which bistability arises and prove analytically that monostability (equifinality is guaranteed when the antagonist muscles are identical. Lastly we verify these analytic findings in the full biomechanical limb model.

Effect of lower limb preference on local muscular and vascular function

International Nuclear Information System (INIS)

Fahs, Christopher A; Rossow, Lindy M; Thiebaud, Robert S; Loenneke, Jeremy P; Kim, Daeyeol; Bemben, Michael G; Abe, Takashi

2014-01-01

Unilateral physical training can enhance muscular size and function as well as vascular function in the trained limb. In non-athletes, the preferred arm for use during unilateral tasks may exhibit greater muscular strength compared to the non-preferred arm. It is unclear if lower limb preference affects lower limb vascular function or muscular endurance and power in recreationally active adults. To examine the effect of lower limb preference on quadriceps muscle size and function and on lower limb vascular function in middle-aged adults. Twenty (13 men, 7 women) recreationally-active middle-aged (55 ± 7 yrs) adults underwent measurements of quadriceps muscle thickness, strength, mean power, endurance, and arterial stiffness, calf venous compliance, and calf blood flow in the preferred and non-preferred lower limb. The preferred limb exhibited greater calf vascular conductance (31.6 ± 15.5 versus 25.8 ± 13.0 units flow/mmHg; p = 0.011) compared to the non-preferred limb. The interlimb difference in calf vascular conductance was negatively related to weekly aerobic activity (hrs/week) (r = −0.521; p = 0.019). Lower limb preference affects calf blood flow but not quadriceps muscle size or function. Studies involving unilateral lower limb testing procedures in middle-aged individuals should consider standardizing the testing to either the preferred or non-preferred limb rather than the right or left limb. (paper)

Effects of metabolic syndrome on arterial function in different age groups: the Advanced Approach to Arterial Stiffness study.

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Topouchian, Jirar; Labat, Carlos; Gautier, Sylvie; Bäck, Magnus; Achimastos, Apostolos; Blacher, Jacques; Cwynar, Marcin; de la Sierra, Alejandro; Pall, Denes; Fantin, Francesco; Farkas, Katalin; Garcia-Ortiz, Luis; Hakobyan, Zoya; Jankowski, Piotr; Jelakovic, Ana; Kobalava, Zhanna; Konradi, Alexandra; Kotovskaya, Yulia; Kotsani, Marina; Lazareva, Irina; Litvin, Alexander; Milyagin, Viktor; Mintale, Iveta; Persson, Oscar; Ramos, Rafael; Rogoza, Anatoly; Ryliskyte, Ligita; Scuteri, Angelo; Sirenko, Yuriy; Soulis, Georges; Tasic, Nebojsa; Udovychenko, Maryna; Urazalina, Saule; Wohlfahrt, Peter; Zelveian, Parounak; Benetos, Athanase; Asmar, Roland

2018-04-01

The aim of the Advanced Approach to Arterial Stiffness study was to compare arterial stiffness measured simultaneously with two different methods in different age groups of middle-aged and older adults with or without metabolic syndrome (MetS). The specific effects of the different MetS components on arterial stiffness were also studied. This prospective, multicentre, international study included 2224 patients aged 40 years and older, 1664 with and 560 without MetS. Patients were enrolled in 32 centres from 18 European countries affiliated to the International Society of Vascular Health & Aging. Arterial stiffness was evaluated using the cardio-ankle vascular index (CAVI) and the carotid-femoral pulse wave velocity (CF-PWV) in four prespecified age groups: 40-49, 50-59, 60-74, 75-90 years. In this report, we present the baseline data of this study. Both CF-PWV and CAVI increased with age, with a higher correlation coefficient for CAVI (comparison of coefficients P Age-adjusted and sex-adjusted values of CF-PWV and CAVI were weakly intercorrelated (r = 0.06, P Age-adjusted and sex-adjusted values for CF-PWV but not CAVI were higher in presence of MetS (CF-PWV: 9.57 ± 0.06 vs. 8.65 ± 0.10, P age on CAVI and CF-PWV and suggests that age may have a more pronounced effect on CAVI, whereas MetS increases CF-PWV but not CAVI. This important finding may be due to heterogeneous effects of MetS components on CAVI. The clinical significance of these original results will be assessed during the longitudinal phase of the study.

Intestinal lymphangiectasia and reversible high liver stiffness.

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Milazzo, Laura; Peri, Anna Maria; Lodi, Lucia; Gubertini, Guido; Ridolfo, Anna Lisa; Antinori, Spinello

2014-08-01

Primary intestinal lymphangiectasia (PIL) is a protein-losing enteropathy characterized by tortuous and dilated lymph channels of the small bowel. The main symptoms are bilateral lower limb edema, serosal effusions, and vitamin D malabsorption resulting in osteoporosis. We report here a case of long-lasting misdiagnosed PIL with a peculiar liver picture, characterized by a very high stiffness value at transient elastography, which decreased with clinical improvement. The complex interplay between lymphatic and hepatic circulatory system is discussed. © 2014 by the American Association for the Study of Liver Diseases.

Prosthetic model, but not stiffness or height, affects the metabolic cost of running for athletes with unilateral transtibial amputations.

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Beck, Owen N; Taboga, Paolo; Grabowski, Alena M

2017-07-01

Running-specific prostheses enable athletes with lower limb amputations to run by emulating the spring-like function of biological legs. Current prosthetic stiffness and height recommendations aim to mitigate kinematic asymmetries for athletes with unilateral transtibial amputations. However, it is unclear how different prosthetic configurations influence the biomechanics and metabolic cost of running. Consequently, we investigated how prosthetic model, stiffness, and height affect the biomechanics and metabolic cost of running. Ten athletes with unilateral transtibial amputations each performed 15 running trials at 2.5 or 3.0 m/s while we measured ground reaction forces and metabolic rates. Athletes ran using three different prosthetic models with five different stiffness category and height combinations per model. Use of an Ottobock 1E90 Sprinter prosthesis reduced metabolic cost by 4.3 and 3.4% compared with use of Freedom Innovations Catapult [fixed effect (β) = -0.177; P Run (β = -0.139; P = 0.002) prostheses, respectively. Neither prosthetic stiffness ( P ≥ 0.180) nor height ( P = 0.062) affected the metabolic cost of running. The metabolic cost of running was related to lower peak (β = 0.649; P = 0.001) and stance average (β = 0.772; P = 0.018) vertical ground reaction forces, prolonged ground contact times (β = -4.349; P = 0.012), and decreased leg stiffness (β = 0.071; P running. Instead, an optimal prosthetic model, which improves overall biomechanics, minimizes the metabolic cost of running for athletes with unilateral transtibial amputations. NEW & NOTEWORTHY The metabolic cost of running for athletes with unilateral transtibial amputations depends on prosthetic model and is associated with lower peak and stance average vertical ground reaction forces, longer contact times, and reduced leg stiffness. Metabolic cost is unrelated to prosthetic stiffness, height, and stride kinematic symmetry. Unlike nonamputees who decrease leg stiffness with

Leg stiffness during phases of countermovement and take-off in vertical jump.

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Struzik, Artur; Zawadzki, Jerzy

2013-01-01

With respect to cyclic movements such as human gait, running or hopping, leg stiffness is a little variable parameter. The aim of this study was to investigate changes in leg stiffness during the phase of countermovement and take-off when performing a single maximum counter-movement jump. Kistler force plates and a BTS SMART system for comprehensive motion analysis were employed in the study. The study covered a group of 12 athletes from university basketball teams. Leg stiffness was calculated in those parts of countermovement and take-off phases where its level is relatively constant and the relationship F(Δl) is similar to linear one. Mean total stiffness (±SD) in both legs in the countermovement phase amounted to 6.5 ± 1.5 kN/m, whereas during the take-off phase this value was 6.9 ± 1 kN/m. No statistically significant differences were found between leg stiffness during the countermovement phase and takeoff phase in the study group at the level of significance set at α = 0.05. This suggests that the leg stiffness in phase of countermovement and phase of take-off are much similar to each other, despite different function of both phases. Similar to cyclic movements, leg stiffness turned out relatively constant when performing a single vertical jump. There are also reported statistically significant correlations between body mass, body height, length of lower limbs and leg stiffness. The stiffness analysed by the authors should be understood as quasi-stiffness because the measurements of ΔF(Δl) were made during transient states where inertia and dumping forces are likely to affect the final result.

Bone dosimetry and scintigraphy in post-traumatic reflex sympathetic dystrophy syndrome (RSDS) with upper limb involvement

International Nuclear Information System (INIS)

Dore, F.; Casu, A.R.; Arru, A.; Vargiu, P.; Azzena, M.D.; Madeddu, G.; Melis, G.C.; Fumu, E.; Piga, M.

1991-01-01

In 24 patients affected with post-traumatic reflex sympathetic dystrophy syndrome (RSDS) with upper limb involvement following humeral fractures, bone mineral density (BMD, mg/cm 2 ) was measured by means of dual-photon absorptiometry in the distal radius of both the affected and the normal contralateral limbs. Subsequently, all patients underwent dynamic and static scintigraphic exams after i.v. injection of 99m Tc-MDP (20 mCi), with gamma camera collimator centered in both limbs. BMD values were significantly lower in the affected sides than in the normal contralateral ones. Time-activity curves with MDP showed increased flow in the involved limbs. Significant increase in blood pool and in bone uptake was also oserved. After carbocalcin treatment (80 U/q.d.i.m. in 12 cases and 40 U/q.d.i.m. in the other 12 cases for month) all the patients presented improved clinical symptoms and significant increase in BMD, that was restored to normal values in 7 of the patients who had a longer treatment (40 U/q.d.i.m. for 2 months). Both local blood flow and bone up-take in the affected side significantly decreased after carbocalcitonin therapy while bone avidity index increased in those patients in whom this parameter had been measured. Results confirmed the usefulness of radioisotopic procedures in post-traumatic RSDS for both diagnosis (by demonstrating increased local blood flow and early bone demineralization) and monitoring response to treatment with carbocalcitonin, which seems to play an important role in this condition

Periodic limb movements and restless legs syndrome in children with a history of prematurity.

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Cielo, Christopher M; DelRosso, Lourdes M; Tapia, Ignacio E; Biggs, Sarah N; Nixon, Gillian M; Meltzer, Lisa J; Traylor, Joel; Kim, Ji Young; Marcus, Carole L

2017-02-01

Little is known about the pediatric population at an increased risk of restless legs syndrome (RLS) and periodic limb movement disorder (PLMD). Polysomnographic data from the Caffeine for Apnea of Prematurity-Sleep (CAPS) study showed a high prevalence of elevated periodic limb movement index (PLMI) in a cohort of ex-preterm children, but the clinical importance of this finding, such as association with RLS, is unknown. We hypothesized that ex-preterm children would have a high prevalence of RLS and PLMD. Ex-preterm children enrolled in CAPS, now aged 5-12 years, completed home polysomnography (PSG) and standardized questionnaires. A diagnosis of RLS or PLMD was established by participants meeting the International Classification of Sleep Disorders, 3rd edition, criteria based on questionnaires and polysomnograms. The clinically available serum ferritin levels were assessed. In total, 167 participants underwent polysomnography and completed all questionnaires. The overall prevalence of RLS was 14/167 (8.4%). An additional 13 subjects (7.8%) were found to have PLMD. Of the 26 participants who had PLMI > 5/h, seven (26.9%) had RLS and 13 (50%) had PLMD. The serum ferritin levels were prematurity have a high prevalence of RLS, particularly those with elevated periodic limb movements. Iron deficiency likely contributes to RLS and PLMD symptoms in this population. Clinicians evaluating ex-preterm children with sleep disturbances should evaluate for RLS and PLMD. Further studies including serum ferritin evaluation are required to confirm these findings. Copyright © 2016 Elsevier B.V. All rights reserved.

A diabetic patient presenting with stiff hand following fasciectomy for Dupuytren's contracture: A case report.

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Fournier, Katia; Papanas, Nikolaos; Compson, Jonathan P; Maltezos, Efstratios

2008-10-27

Reported is the case of a 68-year-old male presenting with severe wrist and hand stiffness following surgery for a Dupuytren's contracture. Complications of surgery or rehabilitation and complex regional pain syndrome were excluded as factors explaining this stiffness. Given the patient's diabetes mellitus and the striking similarity with the typical diabetic stiff hand, it is suggested that diabetes may have contributed to the development of the complication.

Inpatient Physiotherapy Management for Stiff-Person Syndrome: A Case Report

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Kahraman

2016-01-01

Full Text Available Introduction Stiff-person syndrome (SPS is a rare autoimmune neurological disorder presenting with inability to perform daily activities independently. Because SPS is a rare disorder, the efficacy of physiotherapy in the management of SPS is not yet known. Case Presentation The patient was a 65-year-old female with SPS diagnosed 1 year before. Assessments were performed, such as range of motion, muscle strength, pain, balance, and functional mobility. She had shoulder pain, with a score of 5/10 on the numerical pain rating scale for both shoulders. Moreover, her muscle strength was impaired. Although the patient could not maintain an upright position or walk, she had sitting balance. The physiotherapy functional mobility profile (PFMP was scored as 35/63. She received 14 sessions of physiotherapy intervention, which included exercises to improve strength, flexibility, posture, balance, and functional mobility. Walking exercises were performed after the patient gained the ability to maintain an upright stance. Her muscle strength and posture improved, and her pain disappeared. The patient could maintain upright position and began to walk with a walker. At the end of the physiotherapy program, the PFMP was scored as 49/63, and the patient was able to walk 20 m with a walker without need to rest. Conclusions Inpatient physiotherapy management for SPS seems effective in improving balance, gait, and functional mobility.

Intraventricular filling under increasing left ventricular wall stiffness and heart rates

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Samaee, Milad; Lai, Hong Kuan; Schovanec, Joseph; Santhanakrishnan, Arvind; Nagueh, Sherif

2015-11-01

Heart failure with normal ejection fraction (HFNEF) is a clinical syndrome that is prevalent in over 50% of heart failure patients. HFNEF patients show increased left ventricle (LV) wall stiffness and clinical diagnosis is difficult using ejection fraction (EF) measurements. We hypothesized that filling vortex circulation strength would decrease with increasing LV stiffness irrespective of heart rate (HR). 2D PIV and hemodynamic measurements were acquired on LV physical models of varying wall stiffness under resting and exercise HRs. The LV models were comparatively tested in an in vitro flow circuit consisting of a two-element Windkessel model driven by a piston pump. The stiffer LV models were tested in comparison with the least stiff baseline model without changing pump amplitude, circuit compliance and resistance. Increasing stiffness at resting HR resulted in diminishing cardiac output without lowering EF below 50% as in HFNEF. Increasing HR to 110 bpm in addition to stiffness resulted in lowering EF to less than 50%. The circulation strength of the intraventricular filling vortex diminished with increasing stiffness and HR. The results suggest that filling vortex circulation strength could be potentially used as a surrogate measure of LV stiffness. This research was supported by the Oklahoma Center for Advancement of Science and Technology (HR14-022).

[Deep venous thrombosis of the upper limb in a violin player: The "bow syndrome"].

Science.gov (United States)

Sanson, H; Gautier, V; Stansal, A; Sfeir, D; Franceschi, C; Priollet, P

2016-12-01

Exercise-induced thrombosis is a rare cause of deep venous thrombosis (DVT) of the upper limb and usually affects young subjects without comorbid conditions. The diagnosis may be challenging. A 23-year-old female right-handed French teacher and amateur violin player presented with edema of the root of the right arm associated with erythrocyanosis of the extremity and collateral circulation of the shoulder. History taking revealed oral contraception and recent change in violin playing habits. D-dimers were negative. A second duplex-Doppler was required before visualization of a DVT in the right subclavian vein. The patient was given low-molecular-weight heparin alone, followed by rivaroxaban. The outcome was very favorable at 48h. The patient was seen at 4 months and had not had a recurrent episode. The diagnosis of DVT of the upper limb is basically clinical. There is a clinical probability score for the introduction of anticoagulation even if the duplex-Doppler fails to visualize DVT, a situation that can occur due to the clavicular superposition in this region. Exercise-induced DVT should be suspected in patients with minimally intense but repeated exercise (hyper-abduction), e.g. as here playing the violin. Anticoagulation is the treatment of choice. The role for surgery and pharmacomechanical strategies remains to be defined. Exercise-induced thrombosis (Paget-Schroetter syndrome) should be suspected in young patients free of any comorbidity who develop a thrombosis of the upper limb. Studies comparing different therapeutic options would be useful to achieve more homogeneous management practices despite the heterogeneous clinical presentations. Copyright © 2016. Published by Elsevier Masson SAS.

A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.

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Hishimura-Yonemaru, Nozomi; Okuhara, Koji; Takahashi, Nobuhiro; Tonoki, Hidefumi; Iizuka, Susumu; Tajima, Toshihiro

2017-01-01

Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD. The length of the left leg was 5.0 cm shorter than that of the right leg when measured. She was referred to orthopedics and underwent right distal femoral and right proximal tibial staple epiphysiodesis to shorten the abnormally long limb at 10 yr 6 mo of age. One year after the operation, the LLD decreased from 5.0 to 1.5 cm. During this period, GH was continued. LLD is a rare complication in TS, but when patients with TS show scoliosis in the standing position, re-evaluation for scoliosis in the supine position should be performed and the lengths of both legs should be measured.

A case of stiff-person syndrome, type 1 diabetes, celiac disease and dermatitis herpetiformis.

LENUS (Irish Health Repository)

O'Sullivan, Eoin P

2009-05-01

Antibodies against glutamic acid decarboxylase (GAD) are involved in the pathophysiology of stiff-person syndrome (SPS) and type 1 diabetes. GAD catalyses the conversion of glutamate to gamma-aminobutyric acid (GABA). GABA acts as a neurotransmitter between neurones, while in pancreatic beta cells it plays an integral role in normal insulin secretion, hence the clinical presentation of muscular spasms in SPS and insulin deficiency in diabetes. Despite this apparent major overlap in pathophysiology, SPS only rarely occurs in individuals with type 1 diabetes. We report the case of a 41-year-old man presenting with a simultaneous diagnosis of both these conditions. His case is unusual in that it is the first reported case in the literature of these conditions occurring in someone with celiac disease (CD) and dermatitis herpetiformis. We discuss why SPS and type 1 diabetes co-exist in only a minority of cases and speculate on the underlying mechanism of the association with CD and dermatitis herpetiformis in our patient.

Review of the Relationship of Restless Legs Syndrome and Periodic Limb Movements in Sleep to Hypertension, Heart Disease, and Stroke

OpenAIRE

Walters, Arthur S.; Rye, David B.

2009-01-01

Evidence is reviewed documenting an intimate relationship among restless legs syndrome (RLS) / periodic limb movements in sleep (PLMS) and hypertension and cardiovascular and cerebrovascular disease. Sympathetic overactivity is associated with RLS/PLMS, as manifested by increased pulse rate and blood pressure coincident with PLMS. Causality is far from definitive. Mechanisms are explored as to how RLS/PLMS may lead to high blood pressure, heart disease, and stroke: (a) the sympathetic hyperac...

Relationship between Static Stiffness and Modal Stiffness of Structures

Directory of Open Access Journals (Sweden)

Tianjian Ji Tianjian Ji

2010-02-01

Full Text Available This paper derives the relationship between the static stiffness and modal stiffness of a structure. The static stiffness and modal stiffness are two important concepts in both structural statics and dynamics. Although both stiffnesses indicate the capacity of the structure to resist deformation, they are obtained using different methods. The former is calculated by solving the equations of equilibrium and the latter can be obtained by solving an eigenvalue problem. A mathematical relationship between the two stiffnesses was derived based on the definitions of two stiffnesses. This relationship was applicable to a linear system and the derivation of relationships does not reveal any other limitations. Verification of the relationship was given by using several examples. The relationship between the two stiffnesses demonstrated that the modal stiffness of the fundamental mode was always larger than the static stiffness of a structure if the critical point and the maximum mode value are at the same node, i.e. for simply supported beam and seven storeys building are 1.5% and 15% respectively. The relationship could be applied into real structures, where the greater the number of modes being considered, the smaller the difference between the modal stiffness and the static stiffness of a structure.

Measuring multi-joint stiffness during single movements: numerical validation of a novel time-frequency approach.

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Piovesan, Davide; Pierobon, Alberto; DiZio, Paul; Lackner, James R

2012-01-01

This study presents and validates a Time-Frequency technique for measuring 2-dimensional multijoint arm stiffness throughout a single planar movement as well as during static posture. It is proposed as an alternative to current regressive methods which require numerous repetitions to obtain average stiffness on a small segment of the hand trajectory. The method is based on the analysis of the reassigned spectrogram of the arm's response to impulsive perturbations and can estimate arm stiffness on a trial-by-trial basis. Analytic and empirical methods are first derived and tested through modal analysis on synthetic data. The technique's accuracy and robustness are assessed by modeling the estimation of stiffness time profiles changing at different rates and affected by different noise levels. Our method obtains results comparable with two well-known regressive techniques. We also test how the technique can identify the viscoelastic component of non-linear and higher than second order systems with a non-parametrical approach. The technique proposed here is very impervious to noise and can be used easily for both postural and movement tasks. Estimations of stiffness profiles are possible with only one perturbation, making our method a useful tool for estimating limb stiffness during motor learning and adaptation tasks, and for understanding the modulation of stiffness in individuals with neurodegenerative diseases.

Measuring multi-joint stiffness during single movements: numerical validation of a novel time-frequency approach.

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Davide Piovesan

Full Text Available This study presents and validates a Time-Frequency technique for measuring 2-dimensional multijoint arm stiffness throughout a single planar movement as well as during static posture. It is proposed as an alternative to current regressive methods which require numerous repetitions to obtain average stiffness on a small segment of the hand trajectory. The method is based on the analysis of the reassigned spectrogram of the arm's response to impulsive perturbations and can estimate arm stiffness on a trial-by-trial basis. Analytic and empirical methods are first derived and tested through modal analysis on synthetic data. The technique's accuracy and robustness are assessed by modeling the estimation of stiffness time profiles changing at different rates and affected by different noise levels. Our method obtains results comparable with two well-known regressive techniques. We also test how the technique can identify the viscoelastic component of non-linear and higher than second order systems with a non-parametrical approach. The technique proposed here is very impervious to noise and can be used easily for both postural and movement tasks. Estimations of stiffness profiles are possible with only one perturbation, making our method a useful tool for estimating limb stiffness during motor learning and adaptation tasks, and for understanding the modulation of stiffness in individuals with neurodegenerative diseases.

Strain-stress analysis of lower limb with applied fixator

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Mrázek M.

2010-07-01

Full Text Available This paper compares physiological state of tibia before and after application of an external fixator. The fixator systems’ models but also model of tibia are loaded in the direction of body axis. The paper is focused on the examination of differences in stiffness before and after the application of fixation. Two types of axial external fixators are compared. Both fixators differ in their construction. The first fixator is two-frame and fixation rods are used for fixing the bone tissue (variant I. The second one is fixed into tibia with screws (variant II. We have found out that the two-frame external fixator has much bigger stiffness during limb fixation than the fixator with one body. Much higher deformations compared to physiological state of tibia occur in the variant II.

Hypertension, Diabetes Type II, and Their Association: Role of Arterial Stiffness.

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Smulyan, Harold; Lieber, Ari; Safar, Michel E

2016-01-01

In patients with both hypertension and type II diabetes, the systolic blood pressure (SBP) increases linearly with age, while that of diastolic blood pressure (DBP) declines curvilinearly as early as age 45, all suggesting the development of increased arterial stiffness. Increased stiffness is an important, independent, and significant risk predictor in subjects with hypertension and diabetes. In patients with both diseases, stiffness assessed at the same mean arterial pressure (MAP) was significantly higher in diabetic patients. Arterial stiffness is related to age, heart rate (HR), and MAP, but in diabetic patients, it also related to diabetes duration and insulin treatment (IT). In the metabolic syndrome (MetSyn), diabetes also acts on the small arteries through capillary rarefaction to reduce the effective length of the arterial tree, increases the reflected pulse wave and thus the pulse pressure (PP). These studies indicate that diabetes and hypertension additively contribute to increased pulsatility and suggest that any means to reduce stiffness would be beneficial in these conditions. © American Journal of Hypertension, Ltd 2015. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

A comparison and update of direct kinematic-kinetic models of leg stiffness in human running.

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Liew, Bernard X W; Morris, Susan; Masters, Ashleigh; Netto, Kevin

2017-11-07

Direct kinematic-kinetic modelling currently represents the "Gold-standard" in leg stiffness quantification during three-dimensional (3D) motion capture experiments. However, the medial-lateral components of ground reaction force and leg length have been neglected in current leg stiffness formulations. It is unknown if accounting for all 3D would alter healthy biologic estimates of leg stiffness, compared to present direct modelling methods. This study compared running leg stiffness derived from a new method (multiplanar method) which includes all three Cartesian axes, against current methods which either only include the vertical axis (line method) or only the plane of progression (uniplanar method). Twenty healthy female runners performed shod overground running at 5.0 m/s. Three-dimensional motion capture and synchronised in-ground force plates were used to track the change in length of the leg vector (hip joint centre to centre of pressure) and resultant projected ground reaction force. Leg stiffness was expressed as dimensionless units, as a percentage of an individual's bodyweight divided by standing leg length (BW/LL). Leg stiffness using the line method was larger than the uniplanar method by 15.6%BW/LL (P method by 24.2%BW/LL (P stiffness from the uniplanar method was larger than the multiplanar method by 8.5%BW/LL (6.5 kN/m) (P stiffness estimate with the multiplanar method. Given that limb movements typically occur in 3D, the new multiplanar method provides the most complete accounting of all force and length components in leg stiffness calculation. Copyright © 2017 Elsevier Ltd. All rights reserved.

Marfan syndrome (image)

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Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

A review for pediatricians on limb lengthening and the Ilizarov method.

Science.gov (United States)

Herbert, A J; Herzenberg, J E; Paley, D

1995-02-01

As recently as 1986, limb lengthening in children was considered by most North American orthopedic surgeons to be both dangerous and impractical. Previous attempts were plagued by unacceptably high rates of serious complications such as nerve palsy, deep infection, malunion, broken hardware, and stiff joints. With the recent introduction of the Russian Ilizarov method and apparatus for limb lengthening, a tremendous groundswell of interest has risen. Despite a steep learning curve, many Western centers have now reproduced Ilizarov's clinical results. The important advances over prior methods are partly biologic and partly hardware related. Ilizarov's principles require a minimally invasive, low-energy osteotomy, stable external fixation, a latency period before commencing distraction, and gradual lengthening of 1 mm/d in divided doses (0.25 mm four times per day). The article reviews the background of this new technique and provides an update on results reported over the past year. There is disagreement regarding precise indications for limb salvage (lengthening) of congenital limb deficiencies versus amputation. The role of extended lengthening in dwarfism also remains controversial.

Influence of Passive Joint Stiffness on Proprioceptive Acuity in Individuals With Functional Instability of the Ankle.

Science.gov (United States)

Marinho, Hellen Veloso Rocha; Amaral, Giovanna Mendes; de Souza Moreira, Bruno; Araújo, Vanessa Lara; Souza, Thales Rezende; Ocarino, Juliana Melo; da Fonseca, Sérgio Teixeira

2017-12-01

Study Design Controlled laboratory study, cross-sectional. Background Deficits in ankle proprioceptive acuity have been reported in persons with functional instability of the ankle. Passive stiffness has been proposed as a possible mechanism underlying proprioceptive acuity. Objective To compare proprioceptive acuity and passive ankle stiffness in persons with and without functional ankle instability, and to assess the influence of passive joint stiffness on proprioceptive acuity in persons with functional ankle instability. Methods A sample of 18 subjects with and 18 without complaints of functional ankle instability following lateral ankle sprain participated. An isokinetic dynamometer was used to compare motion perception threshold, passive position sense, and passive ankle stiffness between groups. To evaluate the influence of passive stiffness on proprioceptive acuity, individuals in the lateral functional ankle instability group were divided into 2 subgroups: "high" and "low" passive ankle stiffness. Results The functional ankle instability group exhibited increased motion perception threshold when compared with the corresponding limb of the control group. Between-group differences were not found for passive position sense and passive ankle stiffness. Those in the functional ankle instability group with higher passive ankle stiffness had smaller motion perception thresholds than those with lower passive ankle stiffness. Conclusion Unlike motion perception threshold, passive position sense is not affected by the presence of functional ankle instability. Passive ankle stiffness appears to influence proprioceptive acuity in persons with functional ankle instability. J Orthop Sports Phys Ther 2017;47(12):899-905. Epub 7 Oct 2017. doi:10.2519/jospt.2017.7030.

Contribution of the cerebral SPECT in the field of evaluation of the hemodynamic cerebral vascular accident risk in the Limb shaking syndrome; Apport de la TEMP cerebrale dans le cadre de l'evaluation du risque d'AVC hemodynamique dans le Limb Shaking Syndrome

Energy Technology Data Exchange (ETDEWEB)

Lauer, V.; Wolff, V.; Marescaux, C. [CHU de Strasbourg, Unite neurovasculaire, service de neurologie, 67 (France); Namer, I.J. [CHU de Strasbourg, service de biophysique et medecine nucleaire, 67 -Strasbourg (France)

2010-07-01

The limb shaking syndrome (L.S.S.) is characterized by uncontrollable shaking of members that are caused by a passage in the upright or by an hyper extension of the neck and occur in a patient with internal carotid stenosis. To investigate the pathophysiology of L.S.S. we used brain SPECT (SPECT-E.C.D. or H.M.P.A.O.) to measure cerebral perfusion in the supine position and standing in three patients. (N.C.)

Association of Gastrocnemius Muscle Stiffness With Passive Ankle Joint Stiffness and Sex-Related Difference in the Joint Stiffness.

Science.gov (United States)

Chino, Kintaro; Takashi, Hideyuki

2017-11-15

Passive ankle joint stiffness is affected by all structures located within and over the joint, and is greater in men than in women. Localized muscle stiffness can be assessed by ultrasound shear wave elastography, and muscle architecture such as fascicle length and pennation angle can be measured by B-mode ultrasonography. Thus, we assessed localized muscle stiffness of the medial gastrocnemius (MG) with consideration of individual variability in the muscle architecture, and examined the association of the muscle stiffness with passive ankle joint stiffness and the sex-related difference in the joint stiffness. Localized muscle stiffness of the MG in 16 men and 17 women was assessed at 10° and 20° plantar flexion, neutral anatomical position, 10° and 20° dorsiflexion. Fascicle length and pennation angle of the MG were measured at these joint positions. Passive ankle joint stiffness was determined by the ankle joint angle-torque relationship. Localized MG muscle stiffness was not significantly correlated with passive ankle joint stiffness, and did not show significant sex-related difference, even when considering the muscle architecture. This finding suggest that muscle stiffness of the MG would not be a prominent factor to determine passive ankle joint stiffness and the sex-related difference in the joint stiffness.

Emulating Upper Limb Disorder for Therapy Education

Directory of Open Access Journals (Sweden)

Noor Ayuni binti Che Zakaria

2014-11-01

Full Text Available Robotics not only contributes to the invention of rehabilitation devices, it can also enhance the quality of medical education. In recent years, the use of patient simulators and part-task trainers in the medical education field has brought meaningful improvements in the training of medical practitioners. Nevertheless, in the context of therapy training for upper limb disorders, trainee therapists still have to engage directly with the patients to gain experience of the rehabilitation of physical diseases. In this work, a high-fidelity part-task trainer that is able to reproduce the stiffness of spasticity and rigidity symptoms of the upper limb, such as those observed in post-stroke patients and Parkinson's disease patients, has been developed. Based on the evaluation carried out by two experienced therapists, the developed part-task trainer is able to simulate different patient cases and help trainee therapists gain pre-clinical experience in a safe and intuitive learning environment.

[Case of posterior reversible encephalopathy syndrome caused by Fisher syndrome].

Science.gov (United States)

Yokoi, Katsunori; Ando, Tetsuo; Kawakami, Osamu

2018-01-26

This report presents a case of a 71-year-old woman with Fisher syndrome who had posterior reversible encephalopathy syndrome (PRES) before the initiation of intravenous immunoglobulin (IVIg) treatment. She had symptoms of common cold 2 weeks before the onset of PRES. On the day of the onset, she began to stagger while walking. On day 2, she developed hypertension, vision impairment, and limb weakness and was admitted to the hospital. On day 3, she was provided steroid pulse therapy. On day 4, she developed convulsions and right imperfection single paralysis and was transferred to the our hospital. During the transfer, the patient was conscious. Her blood pressure was high at 198/107 mmHg. She had mild weakness in her limbs and face, light perception in both eyes, dilation of both pupils, total external ophthalmoplegia, no tendon reflexes, and limb and trunk ataxia. We diagnosed PRES because of the high signal intensities observed on T 2 -weighted MRI on both sides of the parietal and occipital lobes. We also diagnosed Fisher syndrome because of a positive anti-GQ1b immunoglobulin G antibody test and albuminocytologic dissociation in the cerebrospinal fluid. PRES showed prompt improvement with antihypertensive therapy, whereas Fisher syndrome slowly improved over a course of 2 months. This case is the first report of PRES without IVIg suggesting that Fisher syndrome induces hypertension and causes PRES.

The validity of the PAM-RL device for evaluating periodic limb movements in sleep and an investigation on night-to-night variability of periodic limb movements during sleep in patients with restless legs syndrome or periodic limb movement disorder using this system.

Science.gov (United States)

Kobayashi, Mina; Namba, Kazuyoshi; Ito, Eiki; Nishida, Shingo; Nakamura, Masaki; Ueki, Yoichiro; Furudate, Naomichi; Kagimura, Tatsuo; Usui, Akira; Inoue, Yuichi

2014-01-01

The status of night-to-night variability for periodic limb movements in sleep (PLMS) has not been clarified. With this in mind, we investigated the validity of PLMS measurement by actigraphy with the PAM-RL device in Japanese patients with suspected restless legs syndrome (RLS) or periodic limb movement disorder (PLMD) and the night-to-night variability of PLMS among the subjects. Forty-one subjects (mean age, 52.1±16.1 years) underwent polysomnography (PSG) and PAM-RL measurement simultaneously. Thereafter, subjects used the PAM-RL at home on four more consecutive nights. The correlation between PLMS index on PSG (PLMSI-PSG) and PLM index on PAM-RL (PLMI-PAM) was 0.781 (PPAM-RL. PAM-RL is thought to be valuable for assessing PLMS even in Japanese subjects. Recording of PAM-RL for three or more consecutive nights may be required to ensure the screening reliability of a patient with suspected pathologically frequent PLMS. Copyright © 2013 Elsevier B.V. All rights reserved.

Inverse relationship between physical activity and arterial stiffness in adults with hypertension.

Science.gov (United States)

O'Donovan, Cuisle; Lithander, Fiona E; Raftery, Tara; Gormley, John; Mahmud, Azra; Hussey, Juliette

2014-02-01

Physical activity has beneficial effects on arterial stiffness among healthy adults. There is a lack of data on this relationship in adults with hypertension. The majority of studies which have examined physical activity and arterial stiffness have used subjective measures of activity. The aim of this study was to investigate the relationship between objectively measured habitual physical activity and arterial stiffness in individuals with newly diagnosed essential hypertension. Adults attending an outpatient hypertension clinic were recruited into this cross sectional study. Physical activity was measured using a triaxial accelerometer. Pulse wave velocity (PWV) and augmentation index (AIx) were measured using applanation tonometry. Participant's full lipid profile and glucose were determined through the collection of a fasting blood sample. Fifty-three adults [51(14) years, 26 male] participated, 16 of whom had the metabolic syndrome. Inactivity was positively correlated with PWV (r = .53, P arterial stiffness among adults with hypertension.

Limb Amputations in Fixed Dystonia: A Form of Body Integrity Identity Disorder?

OpenAIRE

Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

2011-01-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases...

Powered Upper Limb Orthosis Actuation System Based on Pneumatic Artificial Muscles

Science.gov (United States)

Chakarov, Dimitar; Veneva, Ivanka; Tsveov, Mihail; Venev, Pavel

2018-03-01

The actuation system of a powered upper limb orthosis is studied in the work. To create natural safety in the mutual "man-robot" interaction, an actuation system based on pneumatic artificial muscles (PAM) is selected. Experimentally obtained force/contraction diagrams for bundles, consisting of different number of muscles are shown in the paper. The pooling force and the stiffness of the pneumatic actuators is assessed as a function of the number of muscles in the bundle and the supply pressure. Joint motion and torque is achieved by antagonistic actions through pulleys, driven by bundles of pneumatic muscles. Joint stiffness and joint torques are determined on condition of a power balance, as a function of the joint position, pressure, number of muscles and muscles

Gitelman's syndrome: a rare presentation mimicking cauda equina syndrome.

LENUS (Irish Health Repository)

Quinlan, C S

2012-02-01

We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman\\'s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis.

Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies

Science.gov (United States)

Alp, Esma; Atabek, Mehmet Emre; Pirgon, Özgür

2010-01-01

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. Conflict of interest:None declared. PMID:21274338

A study of computer-related upper limb discomfort and computer vision syndrome.

Science.gov (United States)

Sen, A; Richardson, Stanley

2007-12-01

Personal computers are one of the commonest office tools in Malaysia today. Their usage, even for three hours per day, leads to a health risk of developing Occupational Overuse Syndrome (OOS), Computer Vision Syndrome (CVS), low back pain, tension headaches and psychosocial stress. The study was conducted to investigate how a multiethnic society in Malaysia is coping with these problems that are increasing at a phenomenal rate in the west. This study investigated computer usage, awareness of ergonomic modifications of computer furniture and peripherals, symptoms of CVS and risk of developing OOS. A cross-sectional questionnaire study of 136 computer users was conducted on a sample population of university students and office staff. A 'Modified Rapid Upper Limb Assessment (RULA) for office work' technique was used for evaluation of OOS. The prevalence of CVS was surveyed incorporating a 10-point scoring system for each of its various symptoms. It was found that many were using standard keyboard and mouse without any ergonomic modifications. Around 50% of those with some low back pain did not have an adjustable backrest. Many users had higher RULA scores of the wrist and neck suggesting increased risk of developing OOS, which needed further intervention. Many (64%) were using refractive corrections and still had high scores of CVS commonly including eye fatigue, headache and burning sensation. The increase of CVS scores (suggesting more subjective symptoms) correlated with increase in computer usage spells. It was concluded that further onsite studies are needed, to follow up this survey to decrease the risks of developing CVS and OOS amongst young computer users.

Impairment of Arterial Compliance in Cushing’s Syndrome

Science.gov (United States)

Maria Zedda, Angela; Mercuro, Giuseppe

2014-01-01

Abstract Arterial stiffness may be useful for stratifying cardiovascular risk in individuals suffering from a number of pathologies, such as hypertension, diabetes, obesity, dyslipidaemia and coronary artery disease. Cushing’s syndrome is underpinned by a complex metabolic syndrome, which is potentially implicated in the onset of blood vessel alterations and the increase in arterial wall stiffness. The aim of this paper was to perform a review about the most important studies conducted in order to evaluate the arterial distensibility profile of subjects affected by Cushing’s syndrome. Increased arterial stiffness may persist even after successful cure of this disease. It is therefore of fundamental importance to identify the presence of early vascular alterations in these patients, in order to commence their treatment and thus attempt to prevent the subsequent onset of adverse cardiovascular events.

Load to Failure and Stiffness

Science.gov (United States)

Esquivel, Amanda O.; Duncan, Douglas D.; Dobrasevic, Nikola; Marsh, Stephanie M.; Lemos, Stephen E.

2015-01-01

Background: Rotator cuff tendinopathy is a frequent cause of shoulder pain that can lead to decreased strength and range of motion. Failures after using the single-row technique of rotator cuff repair have led to the development of the double-row technique, which is said to allow for more anatomical restoration of the footprint. Purpose: To compare 5 different types of suture patterns while maintaining equality in number of anchors. The hypothesis was that the Mason-Allen–crossed cruciform transosseous-equivalent technique is superior to other suture configurations while maintaining equality in suture limbs and anchors. Study Design: Controlled laboratory study. Methods: A total of 25 fresh-frozen cadaveric shoulders were randomized into 5 suture configuration groups: single-row repair with simple stitch technique; single-row repair with modified Mason-Allen technique; double-row Mason-Allen technique; double-row cross-bridge technique; and double-row suture bridge technique. Load and displacement were recorded at 100 Hz until failure. Stiffness and bone mineral density were also measured. Results: There was no significant difference in peak load at failure, stiffness, maximum displacement at failure, or mean bone mineral density among the 5 suture configuration groups (P row rotator cuff repair to be superior to the single-row repair; however, clinical research does not necessarily support this. This study found no difference when comparing 5 different repair methods, supporting research that suggests the number of sutures and not the pattern can affect biomechanical properties. PMID:26665053

An acoustic startle alters knee joint stiffness and neuromuscular control.

Science.gov (United States)

DeAngelis, A I; Needle, A R; Kaminski, T W; Royer, T R; Knight, C A; Swanik, C B

2015-08-01

Growing evidence suggests that the nervous system contributes to non-contact knee ligament injury, but limited evidence has measured the effect of extrinsic events on joint stability. Following unanticipated events, the startle reflex leads to universal stiffening of the limbs, but no studies have investigated how an acoustic startle influences knee stiffness and muscle activation during a dynamic knee perturbation. Thirty-six individuals were tested for knee stiffness and muscle activation of the quadriceps and hamstrings. Subjects were seated and instructed to resist a 40-degree knee flexion perturbation from a relaxed state. During some trials, an acoustic startle (50 ms, 1000 Hz, 100 dB) was applied 100 ms prior to the perturbation. Knee stiffness, muscle amplitude, and timing were quantified across time, muscle, and startle conditions. The acoustic startle increased short-range (no startle: 0.044 ± 0.011 N·m/deg/kg; average startle: 0.047 ± 0.01 N·m/deg/kg) and total knee stiffness (no startle: 0.036 ± 0.01 N·m/deg/kg; first startle 0.027 ± 0.02 N·m/deg/kg). Additionally, the startle contributed to decreased [vastus medialis (VM): 13.76 ± 33.6%; vastus lateralis (VL): 6.72 ± 37.4%] but earlier (VM: 0.133 ± 0.17 s; VL: 0.124 ± 0.17 s) activation of the quadriceps muscles. The results of this study indicate that the startle response can significantly disrupt knee stiffness regulation required to maintain joint stability. Further studies should explore the role of unanticipated events on unintentional injury. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Effect of Shoes on Stiffness and Energy Efficiency of Ankle-Foot Orthosis: Bench Testing Analysis.

Science.gov (United States)

Kobayashi, Toshiki; Gao, Fan; LeCursi, Nicholas; Foreman, K Bo; Orendurff, Michael S

2017-12-01

Understanding the mechanical properties of ankle-foot orthoses (AFOs) is important to maximize their benefit for those with movement disorders during gait. Though mechanical properties such as stiffness and/or energy efficiency of AFOs have been extensively studied, it remains unknown how and to what extent shoes influence their properties. The aim of this study was to investigate the effect of shoes on stiffness and energy efficiency of an AFO using a custom mechanical testing device. Stiffness and energy efficiency of the AFO were measured in the plantar flexion and dorsiflexion range, respectively, under AFO-alone and AFO-Shoe combination conditions. The results of this study demonstrated that the stiffness of the AFO-Shoe combination was significantly decreased compared to the AFO-alone condition, but no significant differences were found in energy efficiency. From the results, we recommend that shoes used with AFOs should be carefully selected not only based on their effect on alignment of the lower limb, but also their effects on overall mechanical properties of the AFO-Shoe combination. Further study is needed to clarify the effects of differences in shoe designs on AFO-Shoe combination mechanical properties.

Stiffness control of a nylon twisted coiled actuator for use in mechatronic rehabilitation devices.

Science.gov (United States)

Edmonds, Brandon P R; Trejos, Ana Luisa

2017-07-01

Mechatronic rehabilitation devices, especially wearables, have been researched extensively and proven to be promising additions to physical therapy, but most designs utilize traditional actuators providing unnatural, robot-like movements. Therefore, many researchers have focused on the development of actuators that mimic biological properties to provide patients with improved results, safety, and comfort. Recently, a twisted-coiled actuator (TCA) made from nylon thread has been found to possess many of these important properties when heated, such as variable stiffness, flexibility, and high power density. So far, TCAs have been characterized in controlled environments to define their fundamental properties under simple loading configurations. However, for an actuator like this to be implemented in a biomimetic design such as an exoskeleton, it needs to be characterized and controlled as a biological muscle. One major control law that natural muscles exhibit is stiffness control, allowing humans to passively avoid injury from external forces, or move the limbs in a controlled or high impact motion. This type of control is created by the antagonistic muscle arrangement. In this paper, an antagonistic apparatus was developed to model the TCAs from a biological standpoint, the stiffness was characterized with respect to the TCA temperature, and a fully functional stiffness and position controller was implemented with an incorporated TCA thermal model. The stiffness was found to have a linear relationship to the TCA temperatures (R 2 =0.95). The controller performed with a stiffness accuracy of 98.95% and a position accuracy of 92.7%. A final trial with varying continuous position input and varying stepped stiffness input exhibited position control with R 2 =0.9638.

Complex Regional Pain Syndrome type I of the upper limb - treatment based on Stress Loading Program: a case study

Directory of Open Access Journals (Sweden)

Aline Sarturi Ponte

2015-03-01

Full Text Available The daily life of an individual suffering from Complex Regional Pain Syndrome type I (CPRS I becomes limited, because this syndrome causes signs and symptoms located in the affected limb, and may occur in other parts. From this premise, this study aims to present the contributions of Occupational Therapy and the Rehabilitation Stress Loading Program for a subject with CRPS I in the upper limb, attended by the Group of Pain from the University Hospital of Santa Maria (HUSM, Rio Grande do Sul state. This research is characterized as a case study, experimental, which deals with pre and post occupational therapy intervention. The instruments used for data collection were the protocols of Disabilities of the Arm, Shoulder and Hand (DASH, the International Classification of Disability, Functioning and Health (ICF, the Canadian Occupational Performance Measure (COPM, the Visual Analogue Scale, and goniometry (EVA. After assessment, the subject was exposed to the treatment of compressive active resistive exercises; after this treatment was completed, the subject was reassessed. It was observed that the treatment applied has contributed to the reduction of the pain and to the improvement in the Range of Motion (ROM of the subject. The use of the stress protocol and active compression contributed significantly to the reduction of pain, ADM gain and occupational performance improvement.

Coupling between the Output Force and Stiffness in Different Variable Stiffness Actuators

Directory of Open Access Journals (Sweden)

Amir Jafari

2014-08-01

Full Text Available The fundamental objective in developing variable stiffness actuators is to enable the actuator to deliberately tune its stiffness. This is done through controlling the energy flow extracted from internal power units, i.e., the motors of a variable stiffness actuator (VSA. However, the stiffness may also be unintentionally affected by the external environment, over which, there is no control. This paper analysis the correlation between the external loads, applied to different variable stiffness actuators, and their resultant output stiffness. Different types of variable stiffness actuators have been studied considering springs with different types of nonlinearity. The results provide some insights into how to design the actuator mechanism and nonlinearity of the springs in order to increase the decoupling between the load and stiffness in these actuators. This would significantly widen the application range of a variable stiffness actuator.

[Psychotherapies for the Treatment of Phantom Limb Pain].

Science.gov (United States)

Cárdenas, Katherine; Aranda, Mariana

The phantom limb pain has been described as a condition in which patients experience a feeling of itching, spasm or pain in a limb or body part that has been previously amputated. Such pain can be induced by a conflict between the representation of the visual and proprioceptive feedback of the previously healthy limb. The phantom limb pain occurs in at least 42 to 90% of amputees. Regular drug treatment of phantom limb pain is almost never effective. A systematic review of the literature was conducted in Medline and Cochrane using the MESH terms "phantom limb pain" and "psychotherapy", published in the last 10 years, in English and Spanish, finding 49 items. After reviewing the abstracts, 25 articles were excluded for not being related to the objective of the research. Additionally cross references of included articles and literature were reviewed. To describe the psychotherapies used in the management of phantom limb pain, their effectiveness and clinical application reported in the literature. The mechanisms underlying phantom limb pain were initially explained, as were the published studies on the usefulness of some psychotherapies such as mirror visual feedback and immersive virtual reality, visual imagery, desensitization and reprocessing eye movements and hypnosis. The phantom limb pain is a complex syndrome that requires pharmacological and psychotherapeutic intervention. The psychotherapies that have been used the most as adjuvants in the treatment of phantom limb pain are mirror visual feedback, desensitization and reprocessing eye movements, imagery and hypnosis. Studies with more representative samples, specifically randomized trials are required. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Limb amputations in fixed dystonia: a form of body integrity identity disorder?

Science.gov (United States)

Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

2011-07-01

Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases, combined with recent data regarding disorders of mental rotation in patients with fixed dystonia, as well as previous data regarding body integrity identity disorder and amputations sought by patients with chronic regional pain syndrome, raise the possibility that patients with fixed dystonia might have a deficit in body schema that predisposes them to developing fixed dystonia and drives some to seek amputation. The outcome of amputation in fixed dystonia is invariably unfavorable. Copyright © 2011 Movement Disorder Society.

Fitness as a determinant of arterial stiffness in healthy adult men: a cross-sectional study.

Science.gov (United States)

Chung, Jinwook; Kim, Milyang; Jin, Youngsoo; Kim, Yonghwan; Hong, Jeeyoung

2018-01-01

Fitness is known to influence arterial stiffness. This study aimed to assess differences in cardiorespiratory endurance, muscular strength, and flexibility according to arterial stiffness, based on sex and age. We enrolled 1590 healthy adults (men: 1242, women: 348) who were free of metabolic syndrome. We measured cardiorespiratory endurance in an exercise stress test on a treadmill, muscular strength by a grip test, and flexibility by upper body forward-bends from a standing position. The brachial-ankle pulse wave velocity test was performed to measure arterial stiffness before the fitness test. Cluster analysis was performed to divide the patients into groups with low (Cluster 1) and high (Cluster 2) arterial stiffness. According to the k-cluster analysis results, Cluster 1 included 624 men and 180 women, and Cluster 2 included 618 men and 168 women. Men in the middle-aged group with low arterial stiffness demonstrated higher cardiorespiratory endurance, muscular strength, and flexibility than those with high arterial stiffness. Similarly, among men in the old-aged group, the cardiorespiratory endurance and muscular strength, but not flexibility, differed significantly according to arterial stiffness. Women in both clusters showed similar cardiorespiratory endurance, muscular strength, and flexibility regardless of their arterial stiffness. Among healthy adults, arterial stiffness was inversely associated with fitness in men but not in women. Therefore, fitness seems to be a determinant for arterial stiffness in men. Additionally, regular exercise should be recommended for middle-aged men to prevent arterial stiffness.

Arterial stiffness, central hemodynamics, and cardiovascular risk in hypertension

Science.gov (United States)

Palatini, Paolo; Casiglia, Edoardo; Gąsowski, Jerzy; Głuszek, Jerzy; Jankowski, Piotr; Narkiewicz, Krzysztof; Saladini, Francesca; Stolarz-Skrzypek, Katarzyna; Tikhonoff, Valérie; Van Bortel, Luc; Wojciechowska, Wiktoria; Kawecka-Jaszcz, Kalina

2011-01-01

This review summarizes several scientific contributions at the recent Satellite Symposium of the European Society of Hypertension, held in Milan, Italy. Arterial stiffening and its hemodynamic consequences can be easily and reliably measured using a range of noninvasive techniques. However, like blood pressure (BP) measurements, arterial stiffness should be measured carefully under standardized patient conditions. Carotid-femoral pulse wave velocity has been proposed as the gold standard for arterial stiffness measurement and is a well recognized predictor of adverse cardiovascular outcome. Systolic BP and pulse pressure in the ascending aorta may be lower than pressures measured in the upper limb, especially in young individuals. A number of studies suggest closer correlation of end-organ damage with central BP than with peripheral BP, and central BP may provide additional prognostic information regarding cardiovascular risk. Moreover, BP-lowering drugs can have differential effects on central aortic pressures and hemodynamics compared with brachial BP. This may explain the greater beneficial effect provided by newer antihypertensive drugs beyond peripheral BP reduction. Although many methodological problems still hinder the wide clinical application of parameters of arterial stiffness, these will likely contribute to cardiovascular assessment and management in future clinical practice. Each of the abovementioned parameters reflects a different characteristic of the atherosclerotic process, involving functional and/or morphological changes in the vessel wall. Therefore, acquiring simultaneous measurements of different parameters of vascular function and structure could theoretically enhance the power to improve risk stratification. Continuous technological effort is necessary to refine our methods of investigation in order to detect early arterial abnormalities. Arterial stiffness and its consequences represent the great challenge of the twenty-first century for

Embolization of Incompetent Pelvic Veins for the Treatment of Recurrent Varicose Veins in Lower Limbs and Pelvic Congestion Syndrome

International Nuclear Information System (INIS)

Meneses, Luis; Fava, Mario; Diaz, Pía; Andía, Marcelo; Tejos, Cristian; Irarrazabal, Pablo; Uribe, Sergio

2013-01-01

We present our experience with embolization of incompetent pelvic veins (IPV) in women with recurrence of varicose veins (VV) in lower limbs, as well as symptoms of pelvic congestion syndrome (PCS), after first surgery. In addition, we evaluated the effects of embolization in decreasing the symptoms of VV before surgery as well as its effects on PCS symptoms. We included 10 women who had consulted a vascular surgeon because of recurrent VV in lower limbs after surgery. All of these patients were included in the study because they also had symptoms of PCS, probably due to IPV. In patients who had confirmed IPV, we performed embolization before a second surgery. VV and PCS were assessed before and at 3 months after embolization (before the second surgery) using a venous clinical severity score (VCSS) and a visual analog pain scale (VAS), respectively. Patients were controlled between 3 and 6 months after embolization. Paired Student t test analysis was used for comparing data before and after embolization. Fifteen vein segments in 10 women were suitable for embolization. There was a significant (p < 0.001) decrease of VCSS after embolization, and recurrence of VV was not detected within a period of 6 months. There was also significant (p < 0.01) relief of chronic pelvic pain related to PCS evaluated using VAS at 3 months after embolization. Embolization decreases the risk of VV recurrence after surgery and also improves PCS symptoms in women with VV in lower limbs and IPV.

Embolization of Incompetent Pelvic Veins for the Treatment of Recurrent Varicose Veins in Lower Limbs and Pelvic Congestion Syndrome

Energy Technology Data Exchange (ETDEWEB)

Meneses, Luis, E-mail: lmeneseq@gmail.com; Fava, Mario; Diaz, Pia; Andia, Marcelo [Pontificia Universidad Catolica de Chile, Radiology Department and Biomedical Imaging Center (Chile); Tejos, Cristian; Irarrazabal, Pablo [Pontificia Universidad Catolica de Chile, Biomedical Imaging Center (Chile); Uribe, Sergio, E-mail: suribe@med.puc.cl [Pontificia Universidad Catolica de Chile, Radiology Department and Biomedical Imaging Center (Chile)

2013-02-15

We present our experience with embolization of incompetent pelvic veins (IPV) in women with recurrence of varicose veins (VV) in lower limbs, as well as symptoms of pelvic congestion syndrome (PCS), after first surgery. In addition, we evaluated the effects of embolization in decreasing the symptoms of VV before surgery as well as its effects on PCS symptoms. We included 10 women who had consulted a vascular surgeon because of recurrent VV in lower limbs after surgery. All of these patients were included in the study because they also had symptoms of PCS, probably due to IPV. In patients who had confirmed IPV, we performed embolization before a second surgery. VV and PCS were assessed before and at 3 months after embolization (before the second surgery) using a venous clinical severity score (VCSS) and a visual analog pain scale (VAS), respectively. Patients were controlled between 3 and 6 months after embolization. Paired Student t test analysis was used for comparing data before and after embolization. Fifteen vein segments in 10 women were suitable for embolization. There was a significant (p < 0.001) decrease of VCSS after embolization, and recurrence of VV was not detected within a period of 6 months. There was also significant (p < 0.01) relief of chronic pelvic pain related to PCS evaluated using VAS at 3 months after embolization. Embolization decreases the risk of VV recurrence after surgery and also improves PCS symptoms in women with VV in lower limbs and IPV.

The bending stiffness of shoes is beneficial to running energetics if it does not disturb the natural MTP joint flexion.

Science.gov (United States)

Oh, Keonyoung; Park, Sukyung

2017-02-28

A local minimum for running energetics has been reported for a specific bending stiffness, implying that shoe stiffness assists in running propulsion. However, the determinant of the metabolic optimum remains unknown. Highly stiff shoes significantly increase the moment arm of the ground reaction force (GRF) and reduce the leverage effect of joint torque at ground push-off. Inspired by previous findings, we hypothesized that the restriction of the natural metatarsophalangeal (MTP) flexion caused by stiffened shoes and the corresponding joint torque changes may reduce the benefit of shoe bending stiffness to running energetics. We proposed the critical stiffness, k cr , which is defined as the ratio of the MTP joint (MTPJ) torque to the maximal MTPJ flexion angle, as a possible threshold of the elastic benefit of shoe stiffness. 19 subjects participated in a running test while wearing insoles with five different bending stiffness levels. Joint angles, GRFs, and metabolic costs were measured and analyzed as functions of the shoe stiffness. No significant changes were found in the take-off velocity of the center of mass (CoM), but the horizontal ground push-offs were significantly reduced at different shoe stiffness levels, indicating that complementary changes in the lower-limb joint torques were introduced to maintain steady running. Slight increases in the ankle, knee, and hip joint angular impulses were observed at stiffness levels exceeding the critical stiffness, whereas the angular impulse at the MTPJ was significantly reduced. These results indicate that the shoe bending stiffness is beneficial to running energetics if it does not disturb the natural MTPJ flexion. Copyright © 2017 Elsevier Ltd. All rights reserved.

Reduced prosthetic stiffness lowers the metabolic cost of running for athletes with bilateral transtibial amputations.

Science.gov (United States)

Beck, Owen N; Taboga, Paolo; Grabowski, Alena M

2017-04-01

Inspired by the springlike action of biological legs, running-specific prostheses are designed to enable athletes with lower-limb amputations to run. However, manufacturer's recommendations for prosthetic stiffness and height may not optimize running performance. Therefore, we investigated the effects of using different prosthetic configurations on the metabolic cost and biomechanics of running. Five athletes with bilateral transtibial amputations each performed 15 trials on a force-measuring treadmill at 2.5 or 3.0 m/s. Athletes ran using each of 3 different prosthetic models (Freedom Innovations Catapult FX6, Össur Flex-Run, and Ottobock 1E90 Sprinter) with 5 combinations of stiffness categories (manufacturer's recommended and ± 1) and heights (International Paralympic Committee's maximum competition height and ± 2 cm) while we measured metabolic rates and ground reaction forces. Overall, prosthetic stiffness [fixed effect (β) = 0.036; P = 0.008] but not height ( P ≥ 0.089) affected the net metabolic cost of transport; less stiff prostheses reduced metabolic cost. While controlling for prosthetic stiffness (in kilonewtons per meter), using the Flex-Run (β = -0.139; P = 0.044) and 1E90 Sprinter prostheses (β = -0.176; P = 0.009) reduced net metabolic costs by 4.3-4.9% compared with using the Catapult prostheses. The metabolic cost of running improved when athletes used prosthetic configurations that decreased peak horizontal braking ground reaction forces (β = 2.786; P = 0.001), stride frequencies (β = 0.911; P < 0.001), and leg stiffness values (β = 0.053; P = 0.009). Remarkably, athletes did not maintain overall leg stiffness across prosthetic stiffness conditions. Rather, the in-series prosthetic stiffness governed overall leg stiffness. The metabolic cost of running in athletes with bilateral transtibial amputations is influenced by prosthetic model and stiffness but not height. NEW & NOTEWORTHY We measured the

Roberts-SC syndrome, a rare syndrome and cleft palate repair

Directory of Open Access Journals (Sweden)

Murthy Jyotsna

2008-01-01

Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

OroSTIFF: Face-referenced measurement of perioral stiffness in health and disease.

Science.gov (United States)

Chu, Shin-Ying; Barlow, Steven M; Kieweg, Douglas; Lee, Jaehoon

2010-05-28

A new device and automated measurement technology known as OroSTIFF is described to characterize non-participatory perioral stiffness in healthy adults for eventual application to patients with orofacial movement disorders associated with neuromotor disease, traumatic injury, or congenital clefts of the upper lip. Previous studies of perioral biomechanics required head stabilization for extended periods of time during measurement, which precluded sampling patients with involuntary body/head movements (dyskinesias), or pediatric subjects. The OroSTIFF device is face-referenced and avoids the complications associated with head-restraint. Supporting data of non-participatory perioral tissue stiffness using OroSTIFF are included from 10 male and 10 female healthy subjects. The OroSTIFF device incorporates a pneumatic glass air cylinder actuator instrumented for pressure, and an integrated subminiature displacement sensor to encode lip aperture. Perioral electromyograms were simultaneously sampled to confirm passive muscle state for the superior and inferior divisions of the orbicularis oris muscles. Perioral stiffness, derived as a quotient from resultant force (DeltaF) and interangle span (DeltaX), was modeled with multilevel regression techniques. Real-time calculation of the perioral stiffness function demonstrated a significant quadratic relation between imposed interangle stretch and resultant force. This stiffness growth function also differed significantly between males and females. This study demonstrates the OroSTIFF 'proof-of-concept' for cost-effective non-invasive stimulus generation and derivation of perioral stiffness in a group of healthy unrestrained adults, and a case study to illustrate the dose-dependent effects of Levodopa on perioral stiffness in an individual with advanced Parkinson's disease who exhibited marked dyskinesia and rigidity. Copyright 2010 Elsevier Ltd. All rights reserved.

Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome.

Science.gov (United States)

Kobak, Senol; Yalçin, Murat; Karadeniz, Muamer; Oncel, Guray

2013-01-01

Ankylosing spondylitis is a chronic inflammatory disease characterized by inflammatory lower back pain and morning stiffness and accompanied by spine and sacroiliac joint involvement. Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Nonsteroidal anti-inflammatory drug and salazopyrine treatment resulted in significant regression in his complaints.

Coexistence of Ankylosing Spondylitis and Klinefelter's Syndrome

Directory of Open Access Journals (Sweden)

Şenol Kobak

2013-01-01

Full Text Available Ankylosing spondylitis is a chronic inflammatory disease characterized by inflammatory lower back pain and morning stiffness and accompanied by spine and sacroiliac joint involvement. Klinefelter's syndrome is a genetic condition that only affects males. Affected males have an extra X chromosome. This paper reports a 30-years-old male on followup with the diagnosis of Klinefelters syndrome. The patient admitted with complaints of inflammatory lower back, and neck pain and morning stiffness and was diagnosed with ankylosing spondylitis. Nonsteroidal anti-inflammatory drug and salazopyrine treatment resulted in significant regression in his complaints.

Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

Science.gov (United States)

Bjørsum-Meyer, Thomas; Herlin, Morten; Qvist, Niels; Petersen, Michael B

2016-12-21

The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases. Furthermore, we aimed to collect existing knowledge in the embryopathogenesis and genetics in order to discuss a possible link between the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome. Our first case was a white girl delivered by caesarean section at 37 weeks of gestation; our second case was a white girl born at a gestational age of 40 weeks. A co-occurrence of vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed in both cases. We performed a systematic literature search in PubMed ((VACTERL) OR (VATER)) AND ((MRKH) OR (Mayer-Rokitansky-Küster-Hauser) OR (mullerian agenesis) OR (mullerian aplasia) OR (MURCS)) without limitations. A similar search was performed in Embase and the Cochrane library. We added two cases from our local center. All cases (n = 9) presented with anal atresia and renal defect. Vertebral defects were present in eight patients. Rectovestibular fistula was confirmed in seven patients. Along with the uterovaginal agenesis, fallopian tube aplasia appeared in five of nine cases and in two cases ovarian involvement also existed. The co-occurrence of the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Science.gov (United States)

Thevenon, Julien; Monnier, Nicole; Callier, Patrick; Dieterich, Klaus; Francoise, Michel; Montgomery, Tara; Kjaergaard, Susanne; Neas, Katherine; Dixon, Joanne; Dahm, Thomas Lee; Huet, Frédéric; Ragon, Clémence; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Duplomb, Laurence; Aubriot-Lorton, Marie-Hélène; Mugneret, Francine; Vokes, Steve A; Tucker, Haley W; Lunardi, Joël; Faivre, Laurence; Jouk, Pierre Simon; Thauvin-Robinet, Christel

2014-12-01

Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20-25% of the DLC are caused by mutations in genes encoding the muscle contractile apparatus. Large interstitial deletions of the 3p have already been diagnosed by standard chromosomal analysis, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low-set posteriorly rotated ears and blepharophimosis. Review of previously reported cases with a precise mapping of the deletions, documented a 250 kb smallest region of overlap (SRO) necessary for DLC. This region contained one gene, EIF4E3, the first three exons of the FOXP1 gene, and an intronic enhancer of FOXP1 named hs1149. Sanger sequencing and locus quantification of hs1149, EIF4E3, and FOXP1 in a cohort of 11 French patients affected by DLC appeared normal. In conclusion, we delineate a new microdeletion syndrome involving the 3p14.1p13 locus and associated with DLC and severe developmental delay. © 2014 Wiley Periodicals, Inc.

Left is where the L is right. Significantly delayed reaction time in limb laterality recognition in both CRPS and phantom limb pain patients.

Science.gov (United States)

Reinersmann, Annika; Haarmeyer, Golo Sung; Blankenburg, Markus; Frettlöh, Jule; Krumova, Elena K; Ocklenburg, Sebastian; Maier, Christoph

2010-12-17

The body schema is based on an intact cortical body representation. Its disruption is indicated by delayed reaction times (RT) and high error rates when deciding on the laterality of a pictured hand in a limb laterality recognition task. Similarities in both cortical reorganisation and disrupted body schema have been found in two different unilateral pain syndromes, one with deafferentation (phantom limb pain, PLP) and one with pain-induced dysfunction (complex regional pain syndrome, CRPS). This study aims to compare the extent of impaired laterality recognition in these two groups. Performance on a test battery for attentional performance (TAP 2.0) and on a limb laterality recognition task was evaluated in CRPS (n=12), PLP (n=12) and healthy subjects (n=38). Differences between recognising affected and unaffected hands were analysed. CRPS patients and healthy subjects additionally completed a four-day training of limb laterality recognition. Reaction time was significantly delayed in both CRPS (2278±735.7ms) and PLP (2301.3±809.3ms) compared to healthy subjects (1826.5±517.0ms), despite normal TAP values in all groups. There were no differences between recognition of affected and unaffected hands in both patient groups. Both healthy subjects and CRPS patients improved during training, but RTs of CRPS patients (1874.5±613.3ms) remain slower (pCRPS patients, uninfluenced by attention and pain and cannot be fully reversed by training alone. This suggests the involvement of complex central nervous system mechanisms in the disruption of the body schema. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Intra-arterial Autologous Bone Marrow Cell Transplantation in a Patient with Upper-extremity Critical Limb Ischemia

International Nuclear Information System (INIS)

Madaric, Juraj; Klepanec, Andrej; Mistrik, Martin; Altaner, Cestmir; Vulev, Ivan

2013-01-01

Induction of therapeutic angiogenesis by autologous bone marrow mononuclear cell transplantation has been identified as a potential new option in patients with advanced lower-limb ischemia. There is little evidence of the benefit of intra-arterial cell application in upper-limb critical ischemia. We describe a patient with upper-extremity critical limb ischemia with digital gangrene resulting from hypothenar hammer syndrome successfully treated by intra-arterial autologous bone marrow mononuclear cell transplantation.

Perioperative factors affecting the occurrence of acute complex regional pain syndrome following limb bone fracture surgery: data from the Japanese Diagnosis Procedure Combination database.

Science.gov (United States)

Sumitani, Masahiko; Yasunaga, Hideo; Uchida, Kanji; Horiguchi, Hiromasa; Nakamura, Masaya; Ohe, Kazuhiko; Fushimi, Kiyohide; Matsuda, Shinya; Yamada, Yoshitsugu

2014-07-01

Complex regional pain syndrome (CRPS) describes a broad spectrum of symptoms that predominantly localize to the extremities. Although limb fracture is one of the most frequently reported triggering events, few large-scale studies have shown the occurrence of and factors associated with CRPS following limb fracture. This study aimed to show the occurrence and identify of those factors. Using the Japanese Diagnosis Procedure Combination database, we identified 39 patients diagnosed with CRPS immediately after open reduction and internal fixation (ORIF) for limb fracture from a cohort of 185 378 inpatients treated with ORIF between 1 July and 31 December of each year between 2007 and 2010. Patient and clinical characteristics such as age, gender, fracture site, duration of anaesthesia and use of regional anaesthesia were investigated by logistic regression analyses to examine associations between these factors and the in-hospital occurrence of CRPS after ORIF. The occurrence of CRPS was relatively high in fractures of the distal forearm, but low in fractures of the lower limb and in patients with multiple fractures. Generally females are considered to be at high risk of CRPS; however, we found a comparable number of male and female patients suffering from CRPS after ORIF for limb fracture. In terms of perioperative factors, a longer duration of anaesthesia, but not regional anaesthesia, was significantly associated with a higher incidence of CRPS. Although a limited number of CRPS patients were analysed in this study, reduced operative time might help to prevent the development of acute CRPS following limb fracture. © The Author 2013. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Central Hemodynamics and Arterial Stiffness in Systemic Sclerosis.

Science.gov (United States)

Bartoloni, Elena; Pucci, Giacomo; Cannarile, Francesca; Battista, Francesca; Alunno, Alessia; Giuliani, Marco; Cafaro, Giacomo; Gerli, Roberto; Schillaci, Giuseppe

2016-12-01

Although microvascular disease is a hallmark of systemic sclerosis (SSc), a higher prevalence of macrovascular disease and a poorer related prognosis have been reported in SSc than in the general population. The simultaneous assessment of prognostically relevant functional properties of larger and smaller arteries, and their effects on central hemodynamics, has never been performed in SSc using the state-of-the-art techniques. Thirty-four women with SSc (aged 61±15 years, disease duration 17±12 years, and blood pressure 123/70±18/11 mm Hg) and 34 healthy women individually matched by age and mean arterial pressure underwent the determination of carotid-femoral (aortic) and carotid-radial (upper limb) pulse wave velocity (a direct measure of arterial stiffness), aortic augmentation (a measure of the contribution of reflected wave to central pulse pressure), and aortobrachial pulse pressure amplification (brachial/aortic pulse pressure) through applanation tonometry (SphygmoCor). Patients and controls did not differ by carotid-femoral or carotid-radial pulse wave velocity. Aortic augmentation index corrected for a heart rate of 75 bpm (AIx@75) was higher in women with SSc (30.9±16% versus 22.2±12%; P=0.012). Patients also had a lower aortobrachial amplification of pulse pressure (1.22±0.18 versus 1.33±0.25; P=0.041). SSc was an independent predictor of AIx@75 (direct) and pulse pressure amplification (inverse). Among patients, age, mean arterial pressure, and C-reactive protein independently predicted carotid-femoral pulse wave velocity. Age and mean arterial pressure were the only predictors of AIx@75. Women with SSc have increased aortic augmentation and decreased pulse pressure amplification (both measures of the contribution of reflected wave to central waveform) but no changes in aortic or upper limb arterial stiffness. Microvascular involvement occurs earlier than large artery stiffening in SSc. © 2016 American Heart Association, Inc.

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy

DEFF Research Database (Denmark)

Riisager, Maria; Duno, M; Hansen, Flemming Juul

2013-01-01

to aberrations of FKTN is rare, with only eight reported cases of limb girdle phenotype (LGMD2M). We describe the mildest affected patient outside Japan with genetically confirmed LGMD2M and onset of symptoms at age 14. She was brought to medical attention at age 12, not because of muscle weakness, but due...... to episodes of tachycardia caused by Wolff-Parkinson-White syndrome. On examination, she had rigid spine syndrome, a typical limb girdle dystrophy pattern of muscle weakness, cardiomyopathy, and serum CK levels >2000 IU/L (normal G; p.Y306C mutation in the FKTN gene was found. The case confirms FKTN mutations...... as a cause of LGMD2M without mental retardation and expands the phenotypic spectrum for LGMD2M to include cardiomyopathy and rigid spine syndrome in the mildest affected non-Japanese patient reported so far....

Nicolau syndrome following intramuscular benzathine penicillin

Directory of Open Access Journals (Sweden)

De Sousa R

2008-01-01

Full Text Available Nicolau syndrome (NS is a rare complication of an intramuscular injection characterized by severe pain, skin discoloration, and varying levels of tissue necrosis. The case outcomes vary from atrophic ulcers and severe pain to sepsis and limb amputation. We describe a case of a seven-year-old boy with diagnosis of NS after intramuscular benzathine penicillin injection to the ventrolateral aspect of the left thigh. Characteristic violaceous discoloration of skin and immediate injection site pain identified it as a case of NS. The case was complicated by rapid progression of compartment syndrome of the lower limb, proceeding to acute renal failure and death. Associated compartment syndrome can be postulated as a poor prognostic factor for NS.

Primary Sjögren’s Syndrome with Sensory Ganglionopathy and Painful Legs and Moving Toes Syndrome

Directory of Open Access Journals (Sweden)

Mehmet Uğur Çevik

2014-06-01

Full Text Available Sjogren’s syndrome is characterized by the sicca syndrome, with dryness of the mouth (xerostomia and the eyes (xerophthalmia. Sjogren's syndrome is the only connective tissue disease that has been associated with sensory neuronopathy. The syndrome of painful legs and moving toes consisting of pain in the lower limbs with spontaneous movements of the toes or feet. The association between Sjogren’s syndrome and painful legs and moving toes syndrome is a rare condition

Transversal stiffness and beta-actin and alpha-actinin-4 content of the M. soleus fibers in the conditions of a 3-day reloading after 14-day gravitational unloading.

Science.gov (United States)

Ogneva, I V

2011-01-01

The aim of the work was to analyze the structural changes in different parts of the sarcolemma and contractile apparatus of muscle fibers by measuring their transversal stiffness by atomic force microscopy in a three-day reloading after a 14-day gravity disuse, which was carried out by hind-limbs suspension. The object of the study was the soleus muscle of the Wistar rat. It was shown that after 14 days of disuse, there was a reduction of transversal stiffness of all points of the sarcolemma and contractile apparatus. Readaptation for 3 days leads to complete recovery of the values of the transversal stiffness of the sarcolemma and to partial value recovery of the contractile apparatus. The changes in transversal stiffness of sarcolemma correlate with beta-actin and alpha-actinin-4 in membrane protein fractions.

Klippel-Trenaunay syndrome in a Border collie.

Science.gov (United States)

de Cock, H; Mols, N; van Roy, M R; Ducatelle, R; Simoens, P

1996-10-01

A Border collie was presented at the age of 9 weeks with several lesions of the right forelimb, including a reddish-blue haemangiomatous macula in the medio-dorsal part of the elbow, multiple, scattered small cavernous haemangioma-like lesions at the plantar part of the foot and a general hypertrophy of the limb. X-rays of the limb showed osteolysis. On skin biopsy, telangiectatic veins were observed. The rest of the body did not show any skin lesions or hypertrophy. The dog was otherwise healthy. Due to the extension of the lesions and worsening of the limb swelling, it was decided to amputate the affected limb. The dog remained healthy for 2 weeks, but then passed through episodes of anaemia, and finally died suddenly with signs of shock. Dissection of the limb after amputation revealed hypoplasia and aplasia of the deep venous system in the lower part of the leg. No arterio-venous shunts were noticed. ln man, this syndrome, characterised by an insufficiently developed deep venous system associated with local overgrowth of the limb and cutaneous telangiectasia, is known as Klippel-Trenaunay syndrome.

CT-guided stellate ganglion blockade vs. radiofrequency neurolysis in the management of refractory type I complex regional pain syndrome of the upper limb

Energy Technology Data Exchange (ETDEWEB)

Kastler, Adrian [University Hospital CHU Gabriel Montpied, Radiology Department, Clermont-Ferrand (France); Franche Comte University, I4S Laboratory-EA 4268-IFR 133, Besancon (France); CHU Clermont-Ferrand, Hopital Gabriel Montpied, Clermont-Ferrand (France); Aubry, Sebastien; Kastler, Bruno [University Hospital CHU Jean Minjoz, Radiology and Interventional Pain Unit, Besancon (France); Franche Comte University, I4S Laboratory-EA 4268-IFR 133, Besancon (France); Sailley, Nicolas; Michalakis, Demosthene [University Hospital CHU Jean Minjoz, Radiology and Interventional Pain Unit, Besancon (France); Siliman, Gaye [University Hospital CHU St Jacques, Clinical Investigation Center, Besancon (France); Gory, Guillaume [Franche Comte University, I4S Laboratory-EA 4268-IFR 133, Besancon (France); Lajoie, Jean-Louis [University Hospital CHU Jean Minjoz, Pain evaluation and Management Unit, Besancon (France)

2013-05-15

To describe and evaluate the feasibility and efficacy of CT-guided radiofrequency neurolysis (RFN) vs. local blockade of the stellate ganglion in the management of chronic refractory type I complex regional pain syndrome (CRPS) of the upper limb. Sixty-seven patients were included in this retrospective study between 2000 and 2011. All suffered from chronic upper limb type I CRPS refractory to conventional pain therapies. Thirty-three patients underwent stellate ganglion blockade and 34 benefited from radiofrequency neurolysis of the stellate ganglion. CT guidance was used in both groups. The procedure was considered effective when pain relief was {>=}50 %, lasting for at least 2 years. Thirty-nine women (58.2 %) and 28 men (41.8 %) with a mean age of 49.5 years were included in the study. Univariate analysis performed on the blockade and RFN groups showed a significantly (P < 0.0001) higher success rate in the RFN group (67.6 %, 23/34) compared with the blockade group (21.2 %, 7/33) with an odds ratio of 7.76. CT-guided radiofrequency neurolysis of the stellate ganglion is a safe and successful treatment of chronic refractory type I CRPS of the upper limb. It appears to be more effective than stellate ganglion blockade. (orig.)

Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).

Science.gov (United States)

Murray, R S; Keeling, J W; Ellis, P M; FitzPatrick, D R

2002-04-01

We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower limb phocomelia. No additional major malformations were identified on postmortem examination. In particular there was no evidence of splenogonadal fusion or micrognathia and hypoglossia. The limb malformations in this case are associated with a de novo apparently balanced reciprocal translocation 46,XX,t(2;12)(p25.1;q24.1). The cytogenetic features of Roberts-SC phocomelia syndrome were not detected. Unfortunately, the fibroblast line died and no FISH or DNA analysis could be carried out. In spite of this, the case is presented as it may be useful to other researchers in the selection of candidate genes for mendelian forms of peromelia and phocomelia.

Association of Metabolic Syndrome with the Cardioankle Vascular Index in Asymptomatic Korean Population

Science.gov (United States)

Nam, Su-Hyun; Lee, Yun-Ah; Rho, Jun-Seung

2015-01-01

Aim. Metabolic syndrome is characterized by a cluster of atherosclerotic cardiovascular risk factors. The cardioankle vascular index (CAVI) reflects arterial stiffness and may be used as an indicator of atherosclerotic cardiovascular disease. In this study, we investigated the association of CAVI with metabolic syndrome. Methods. A total of 1,144 adults were included in this study. We measured CAVIs and examined blood samples to identify metabolic syndrome according to WHO Asia Pacific criteria and NCEP-ATPIII criteria. AST, ALT, r-GTP, BUN, creatinine, high sensitivity C-reactive protein, and uric acid were also measured. Results. CAVI values were significantly higher in subjects with metabolic syndrome than those without metabolic syndrome and increased according to the number of metabolic syndrome components present. Subjects with high fasting blood sugar levels or high blood pressure showed high CAVI values. Multiple regression analysis showed that age, sex, diastolic blood pressure, and uric acid were independent predictors of CAVI. Conclusion. Subjects with metabolic syndrome had high CAVIs, which indicated arterial stiffness, and were closely associated with an increase in the number of metabolic risk factors. The individual risk factors for metabolic syndrome have the synergistic effect of elevating arterial stiffness in asymptomatic Korean population. PMID:26273666

Limit cycles and stiffness control with variable stiffness actuators

NARCIS (Netherlands)

Carloni, Raffaella; Marconi, L.

2012-01-01

Variable stiffness actuators realize highly dynamic systems, whose inherent mechanical compliance can be properly exploited to obtain a robust and energy-efficient behavior. The paper presents a control strategy for variable stiffness actuators with the primarily goal of tracking a limit cycle

Surgical Interventions for Organ and Limb Ischemia Associated With Primary and Secondary Antiphospholipid Antibody Syndrome With Arterial Involvement.

Science.gov (United States)

Hinojosa, Carlos A; Anaya-Ayala, Javier E; Bermudez-Serrato, Karla; García-Alva, Ramón; Laparra-Escareno, Hugo; Torres-Machorro, Adriana; Lizola, Rene

2017-11-01

The association of antiphospholipid antibody syndrome (APS) and hypercoagulability is well known. Arterial compromise leading to ischemia of organs and/or limbs in patients with APS is uncommon, frequently unrecognized, and rarely described. We evaluated our institutional experience. Retrospective review was conducted. From August 2007 to September 2016, 807 patients with diagnosis of APS were managed in our Institution. Patients with primary and secondary APS who required interventions were examined. Demographics, comorbidities, manifestations, procedures, complications, and other factors affecting outcomes were recorded. Fourteen patients (mean age 35 years old, standard deviation ±14) were evaluated and treated by our service. Six (43%) of them had primary APS and 8 (57%) had secondary APS; 11 (79%) were female. Two (14%) experienced distal aorta and iliac arteries involvement, 3 (21%) visceral vessels disease, 2 (14%) in upper and 7 (50%) in the lower extremity vasculatures. Thirteen (93%) patients underwent direct open revascularization and 1 with hand ischemia (Raynaud disease) underwent sympathectomy. During the mean follow-up period of 48 months, reinterventions included a revision of the proximal anastomosis of an aortobifemoral bypass graft, 1 (7%) abdominal exploration for bleeding, 1 (7%) graft thrombectomy, and 4 (29%) amputations (2 below the knee, 1 above the knee, and 1 transmetatarsal). One (7%) death occurred secondary to sepsis in a patient who had acute mesenteric ischemia. Significant differences in clinical manifestations and outcomes were not observed among patients with primary and secondary APS. All patients remained on systemic anticoagulation. APS is a prothrombotic disorder that may lead to arterial involvement with less frequency than the venous circulation but has significant morbidity and limb loss rate. Arterial reconstruction seems feasible in an attempt to salvage organs and limbs; however, research is necessary to establish the

Moebius Syndrome

Science.gov (United States)

... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

Entrapment Neuropathies in the Upper and Lower Limbs: Anatomy and MRI Features

International Nuclear Information System (INIS)

Dong, Q.; Jacobson, J.A.; Jamadar, D.A.; Gandikota, G.; Brandon, C.; Morag, Y.; Fessell, D.P.; Kim, S.M.

2012-01-01

Peripheral nerve entrapment occurs at specific anatomic locations. Familiarity with the anatomy and the magnetic resonance imaging (MRI) features of nerve entrapment syndromes is important for accurate diagnosis and early treatment of entrapment neuropathies. The purpose of this paper is to illustrate the normal anatomy of peripheral nerves in the upper and lower limbs and to review the MRI features of common disorders affecting the peripheral nerves, both compressive/entrapment and non compressive, involving the supra scapular nerve, the axillary nerve, the radial nerve, the ulnar nerve, and the median verve in the upper limb and the sciatic nerve, the common peroneal nerve, the tibial nerve, and the interdigital nerves in the lower limb

Syringomyelia coexisting with guillain-barre syndrome.

Science.gov (United States)

Kim, Hee-Sang; Yun, Dong Hwan; Chon, Jinmann; Lee, Jong Eon; Park, Min Ho; Han, Yoo Jin

2013-10-01

Guillain-Barre syndrome (GBS) and syringomyelia are diseases of different entities. GBS is an acute post-infectious autoimmune disease which is mediated by autoantibodies against the myelin of peripheral nerves. Syringomyelia is a chronic disease characterized by a cavity extending longitudinally inside the spinal cord. A 67-year-old man is being hospitalized due to severe numbness and ascending weakness in all limbs. On neurological examination, the motor power of all limbs are decreased and show absence of deep tendon reflexes (DTRs). The patient is being diagnosed with GBS on the basis of the acute clinical course, nerve conduction studies of segmental demyelinating polyneuropathy, and a finding of albuminocytologic dissociation in the cerebrospinal fluid. The patient is presented with a new set of symptoms thereafter, which composes of sensory changes in the upper extremities, the urinary dysfunction including frequency and residual urine, spastic bilateral lower extremities, and increased reflexes of the knee and the biceps at follow-up examinations. The spinal magnetic resonance imaging in the sagittal section revealed a syrinx cavity between the fifth cervical and the first thoracic vertebral segment in the cord. The somatosensory evoked potential show sensory pathway defects between both the brachial plexus and the brain stem. Thus, this patient is being diagnosed with both GBS and syringomyelia. We report a case of symptomatic syringomyelia coexisting with GBS. Since the GBS is presented with a progressive muscle weakness and reduced DTRs, the muscle weakness and stiffness in the extremities suggests a concurrent syringomyelia might be easily overlooked.

Proteus syndrome: A rare cause of gigantic limb

OpenAIRE

Nandini Chakrabarti; Chandan Chattopadhyay; Majhi Bhuban; Salil Kumar Pal

2014-01-01

A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, spl...

Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

Energy Technology Data Exchange (ETDEWEB)

Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

2001-01-01

A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

Development of a stiffness-angle law for simplifying the measurement of human hair stiffness.

Science.gov (United States)

Jung, I K; Park, S C; Lee, Y R; Bin, S A; Hong, Y D; Eun, D; Lee, J H; Roh, Y S; Kim, B M

2018-04-01

This research examines the benefits of caffeine absorption on hair stiffness. To test hair stiffness, we have developed an evaluation method that is not only accurate, but also inexpensive. Our evaluation method for measuring hair stiffness culminated in a model, called the Stiffness-Angle Law, which describes the elastic properties of hair and can be widely applied to the development of hair care products. Small molecules (≤500 g mol -1 ) such as caffeine can be absorbed into hair. A common shampoo containing 4% caffeine was formulated and applied to hair 10 times, after which the hair stiffness was measured. The caffeine absorption of the treated hair was observed using Fourier-transform infrared spectroscopy (FTIR) with a focal plane array (FPA) detector. Our evaluation method for measuring hair stiffness consists of a regular camera and a support for single strands of hair. After attaching the hair to the support, the bending angle of the hair was observed with a camera and measured. Then, the hair strand was weighed. The stiffness of the hair was calculated based on our proposed Stiffness-Angle Law using three variables: angle, weight of hair and the distance the hair was pulled across the support. The caffeine absorption was confirmed by FTIR analysis. The concentration of amide bond in the hair certainly increased due to caffeine absorption. After caffeine was absorbed into the hair, the bending angle and weight of the hair changed. Applying these measured changes to the Stiffness-Angle Law, it was confirmed that the hair stiffness increased by 13.2% due to caffeine absorption. The theoretical results using the Stiffness-Angle Law agree with the visual examinations of hair exposed to caffeine and also the known results of hair stiffness from a previous report. Our evaluation method combined with our proposed Stiffness-Angle Law effectively provides an accurate and inexpensive evaluation technique for measuring bending stiffness of human hair. © 2018

Development of a method for fabricating polypropylene non-articulated dorsiflexion assist ankle foot orthoses with predetermined stiffness.

Science.gov (United States)

Ramsey, Jason Allan

2011-03-01

A non-articulated plantarflexion resist ankle foot orthosis (AFO), commonly known as a posterior leaf spring AFO, is indicated for patients with motor impairment to the dorsiflexors. The AFO is often custom molded to a patient's lower limb anatomy and fabricated from polypropylene. There are no established guidelines for fabricating this type of AFO with predetermined stiffness of the ankle region for normal walking speeds. Therefore an AFO may not meet the biomechanical needs of the patient. Quantify the biomechanical ankle stiffness requirement for an individual with complete dorsiflexor impairment and develop a method for fabricating an AFO with ankle stiffness to meet that requirement. Experimental, bench research. The literature on sagittal biomechanics of non-pathological adults was reviewed to derive the stiffness of the ankle during loading response. Computer models of 144 AFOs were created with geometric variations to account for differences in human anthropometrics. Computer-based finite element analysis was employed to determine the stiffness and safety factor of the models. Stiffness of the AFOs ranged from 0.04 to 1.8 Nm/deg. This ample range is expected to account for the stiffness required for most adults with complete dorsiflexor impairment. At 5° deflection the factor of safety (ratio of strength to stress) ranged from 2.8 to 9.1. A computer program was generated that computes AFO stiffness from user-input variables of AFO geometry. The stiffness is compared to a theoretically appropriate stiffness based on the patient mass. The geometric variables can be modified until there is a close match, resulting in AFO design specification that is appropriate for the patient. Through validation on human subjects, this method may benefit patient outcomes in clinical practice by avoiding the current uncertainty surrounding AFO performance and reducing the labor and time involved in rectifying a custom AFO post-fabrication. This method provides an avenue for

"Compartment"-syndrom på underben, atypisk traumemekanisme

DEFF Research Database (Denmark)

Larsen, Michael H; Nielsen, Henrik Toft; Wester, Jens Ulrik

2003-01-01

Acute compartment syndrome (CS) is a limb threatening condition which warrants emergency treatment. We describe a case of a 37-year-old man with acute CS developed without major trauma. Early diagnosis and prompt treatment by decompressive fasciotomy is of vital importance in order to preserve limb...

Posttraumatic stiff elbow

Directory of Open Access Journals (Sweden)

Ravi Mittal

2017-01-01

Full Text Available Posttraumatic stiff elbow is a frequent and disabling complication and poses serious challenges for its management. In this review forty studies were included to know about the magnitude of the problem, causes, pathology, prevention, and treatment of posttraumatic stiff elbow. These studies show that simple measures such as internal fixation, immobilization in extension, and early motion of elbow joint are the most important steps that can prevent elbow stiffness. It also supports conservative treatment in selected cases. There are no clear guidelines about the choice between the numerous procedures described in literature. However, this review article disproves two major beliefs-heterotopic ossification is a bad prognostic feature, and passive mobilization of elbow causes elbow stiffness.

Radiological evaluation of the chronic venous stasis syndrome

International Nuclear Information System (INIS)

Train, J.S.; Schanzer, H.; Peirce, E.C. II; Dan, S.J.; Mitty, H.A.

1987-01-01

Chronic venous stasis is an extremely complex clinical syndrome of pain and changes in the skin that can involve the superficial, deep, and perforating veins. This syndrome is commonly referred to as the postphlebitic syndrome, implying that thrombophlebitis is its sole etiology. To test this hypothesis, the authors performed ascending venography on 51 limbs of patients with the chromic venous stasis syndrome and demonstrated that 32 had no radiological evidence of recent or old thrombophlebitis. Instead, they had normal-appearing veins, suggesting primary incompetence of the deep and/or perforating venous valves rather than thrombophlebitis as the etiology. Since various operations have recently been proposed to correct or bypass malfunctioning valves, precise demonstration of pathological change is required to choose the appropriate procedure and to evaluate results. Descending venograms were combined with the ascending studies in 42 limbs for this purpose. In addition to outlining the abnormalities responsible for chronic venous stasis syndrome in individual cases, interesting conclusions regarding the syndrome itself were reached

Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III.

Science.gov (United States)

Cheng, Jem L; Au, Jason S; Guzman, Juan C; Morillo, Carlos A; MacDonald, Maureen J

2017-04-01

The cardiovascular profile of postural orthostatic tachycardia syndrome + Ehlers-Danlos syndrome hypermobility type (POTS + EDSIII) has not been described, despite suggestions that it plays a role in orthostatic intolerance. We studied nine individuals diagnosed with POTS + EDSIII and found that the arterial stiffness and cardiac profiles of patients with POTS + EDSIII were comparable to those of age- and sex-matched controls, suggesting an alternate explanation for orthostatic intolerance.

Somatic and movement inductions phantom limb in non-amputees

Science.gov (United States)

Casas, D. M.; Gentiletti, G. G.; Braidot, A. A.

2016-04-01

The illusion of the mirror box is a tool for phantom limb pain treatment; this article proposes the induction of phantom limb syndrome on non-amputees upper limb, with a neurological trick of the mirror box. With two study situations: a) Somatic Induction is a test of the literature reports qualitatively, and novel proposal b) Motor Induction, which is an objective report by recording surface EEG. There are 3 cases proposed for Motor illusion, for which grasped movement is used: 1) Control: movement is made, 2) illusion: the mirror box is used, and 3) Imagination: no movement is executed; the subject only imagines its execution. Three different tasks are registered for each one of them (left hand, right hand, and both of them). In 64% of the subjects for somatic experience, a clear response to the illusion was observed. In the experience of motor illusion, cortical activation is detected in both hemispheres of the primary motor cortex during the illusion, where the hidden hand remains motionless. These preliminary findings in phantom limb on non-amputees can be a tool for neuro-rehabilitation and neuro-prosthesis control training.

Congenital varicella syndrome: cranial MRI in a long-term survivor

International Nuclear Information System (INIS)

Deasy, N.P.; Jarosz, J.M.; Cox, T.C.S.; Hughes, E.

1999-01-01

Congenital varicella syndrome is a rare disorder which follows maternal infection in the first or early second trimester. The syndrome comprises a number of malformations including microcephaly, cortical destruction and limb hypoplasia. We describe a case where there has been long-term survival following second trimester maternal infection. The clinical findings, including the characteristic lower limb hypoplasia, are documented, as are the appearances on cranial MRI indicating an encephaloclastic porencephaly. (orig.) (orig.)

Ellis Van Creveld syndrome

Directory of Open Access Journals (Sweden)

Shilpy S

2007-05-01

Full Text Available Ellis Van Creveld syndrome is a rare disorder and is a form of short-limbed dwarfism. It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects. This case report presents a classical case of a seven-year-old boy with Ellis Van Creveld syndrome presented with discrete clinical findings.

Bullous Wells’ syndrome

Directory of Open Access Journals (Sweden)

Bengu Cevirgen Cemil

2016-01-01

Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

Arterial stiffness and cognitive impairment.

Science.gov (United States)

Li, Xiaoxuan; Lyu, Peiyuan; Ren, Yanyan; An, Jin; Dong, Yanhong

2017-09-15

Arterial stiffness is one of the earliest indicators of changes in vascular wall structure and function and may be assessed using various indicators, such as pulse-wave velocity (PWV), the cardio-ankle vascular index (CAVI), the ankle-brachial index (ABI), pulse pressure (PP), the augmentation index (AI), flow-mediated dilation (FMD), carotid intima media thickness (IMT) and arterial stiffness index-β. Arterial stiffness is generally considered an independent predictor of cardiovascular and cerebrovascular diseases. To date, a significant number of studies have focused on the relationship between arterial stiffness and cognitive impairment. To investigate the relationships between specific arterial stiffness parameters and cognitive impairment, elucidate the pathophysiological mechanisms underlying the relationship between arterial stiffness and cognitive impairment and determine how to interfere with arterial stiffness to prevent cognitive impairment, we searched PUBMED for studies regarding the relationship between arterial stiffness and cognitive impairment that were published from 2000 to 2017. We used the following key words in our search: "arterial stiffness and cognitive impairment" and "arterial stiffness and cognitive impairment mechanism". Studies involving human subjects older than 30years were included in the review, while irrelevant studies (i.e., studies involving subjects with comorbid kidney disease, diabetes and cardiac disease) were excluded from the review. We determined that arterial stiffness severity was positively correlated with cognitive impairment. Of the markers used to assess arterial stiffness, a higher PWV, CAVI, AI, IMT and index-β and a lower ABI and FMD were related to cognitive impairment. However, the relationship between PP and cognitive impairment remained controversial. The potential mechanisms linking arterial stiffness and cognitive impairment may be associated with arterial pulsatility, as greater arterial pulsatility

Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

Directory of Open Access Journals (Sweden)

Deepak Sharma

2015-01-01

Full Text Available Klippel–Trénaunay syndrome (KTS or KT is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands, venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop overgrowing of limb and correction of bone deformity.

Relationship between uric acid and arterial stiffness in the elderly with metabolic syndrome components.

Science.gov (United States)

Sun, Ning; Zhang, Yun; Tian, Jian-li; Wang, Hui

2013-08-01

High uric acid (UA) levels and metabolic syndrome (MS) are risk factors for atherosclerotic diseases. Brachial-ankle pulse wave velocity (baPWV) is a valid and reproducible measurement by which to assess arterial stiffness and a surrogate marker of atherosclerosis. However, little is known about the relationship between them, especially in elderly Chinese with MS components who are at high risk for atherosclerotic diseases. One thousand and twenty Chinese subjects (159 women) older than 60 years of age (mean age (70.6 ± 5.7) years) with at least one MS component underwent routine laboratory tests, and baPWV measurements were analyzed. Participants were divided into four groups by MS components. The mean age did not significantly differ among the MS component groups. We found that not only the diagnostic factors (blood pressure, body mass index (BMI), lipids, glucose) of MS but also baPWV, UA, insulin, homeostasis model of assessment for insulin resistence index (HOMAIR) levels increased, and high density lipoprotein (HDL)-C decreased with an increased number of MS components (test for trend P insulin resistance (r = 0.186, P insulin or HOMA-IR, there were no significant differences in the multivariate odds ratios among the number of MS components for UA. The UA level is positively associated with baPWV and MS, but the association between UA and MS is dependent on insulin resistance. Furthermore, baPWV is independently associated with MS in our study population.

Radiological features of late-onset lymphoedema in Noonan's syndrome

International Nuclear Information System (INIS)

Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

2003-01-01

Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented. (orig.)

Radiological features of late-onset lymphoedema in Noonan's syndrome.

Science.gov (United States)

Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

2003-03-01

Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented.

Novel syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow.

Science.gov (United States)

Yu, Run; Nissen, Nicholas N; Balzer, Bonnie; Fan, Xuemo

2012-01-01

We report a syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow in a 40-year-old African American man. The patient presented with multiple fractures in the proximal humeri and femurs without osteopenia in the vertebrae. His right humerus appeared normal on chest X-ray film 3 years before presentation when he was first diagnosed with HIV infection and abnormal liver functions. At presentation, the patient had vitamin D deficiency, hypogonadism, and low IGF- 1 levels, but did not have hyperparathyroidism. Bone biopsy showed diffuse foamy histiocytic infiltration of bone marrow at all fracture sites without evidence of infectious or neoplastic processes. Exhaustive search did not identify any similar cases in the English literature. Our case likely represents a novel syndrome, the etiology of which is probably multifactorial and includes HIV infection, cholestatic liver failure, immobility, and endocrine abnormalities. The case further calls for the need for monitoring of bone health in patients with HIV infection or liver disease.

Intrapartum diagnostic of Roberts syndrome - case presentation.

Science.gov (United States)

Socolov, Răzvan Vladimir; Andreescu, Nicoleta Ioana; Haliciu, Ana Maria; Gorduza, Eusebiu Vlad; Dumitrache, Florentin; Balan, Raluca Anca; Puiu, Maria; Dobrescu, Mihaela Amelia; Socolov, Demetra Gabriela

2015-01-01

Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.

Estimating Gear Teeth Stiffness

DEFF Research Database (Denmark)

Pedersen, Niels Leergaard

2013-01-01

The estimation of gear stiffness is important for determining the load distribution between the gear teeth when two sets of teeth are in contact. Two factors have a major influence on the stiffness; firstly the boundary condition through the gear rim size included in the stiffness calculation...... and secondly the size of the contact. In the FE calculation the true gear tooth root profile is applied. The meshing stiffness’s of gears are highly non-linear, it is however found that the stiffness of an individual tooth can be expressed in a linear form assuming that the contact length is constant....

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

DEFF Research Database (Denmark)

Nielsen, Rie Harboe; Couppé, Christian; Jensen, Jacob Kildevang

2014-01-01

There is a clinical overlap between classic Ehlers-Danlos syndrome (cEDS) and benign joint hypermobility syndrome (BJHS), with hypermobility as the main symptom. The purpose of this study was to investigate the role of type V collagen mutations and tendon pathology in these 2 syndromes. In patients...... and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients....

Trabecular meshwork stiffness in glaucoma.

Science.gov (United States)

Wang, Ke; Read, A Thomas; Sulchek, Todd; Ethier, C Ross

2017-05-01

Alterations in stiffness of the trabecular meshwork (TM) may play an important role in primary open-angle glaucoma (POAG), the second leading cause of blindness. Specifically, certain data suggest an association between elevated intraocular pressure (IOP) and increased TM stiffness; however, the underlying link between TM stiffness and IOP remains unclear and requires further study. We here first review the literature on TM stiffness measurements, encompassing various species and based on a number of measurement techniques, including direct approaches such as atomic force microscopy (AFM) and uniaxial tension tests, and indirect methods based on a beam deflection model. We also briefly review the effects of several factors that affect TM stiffness, including lysophospholipids, rho-kinase inhibitors, cytoskeletal disrupting agents, dexamethasone (DEX), transforming growth factor-β 2 (TGF-β 2 ), nitric oxide (NO) and cellular senescence. We then describe a method we have developed for determining TM stiffness measurement in mice using a cryosection/AFM-based approach, and present preliminary data on TM stiffness in C57BL/6J and CBA/J mouse strains. Finally, we investigate the relationship between TM stiffness and outflow facility between these two strains. The method we have developed shows promise for further direct measurements of mouse TM stiffness, which may be of value in understanding mechanistic relations between outflow facility and TM biomechanical properties. Copyright © 2016 Elsevier Ltd. All rights reserved.

Artificial muscles with adjustable stiffness

International Nuclear Information System (INIS)

Mutlu, Rahim; Alici, Gursel

2010-01-01

This paper reports on a stiffness enhancement methodology based on using a suitably designed contact surface with which cantilevered-type conducting polymer bending actuators are in contact during operation. The contact surface constrains the bending behaviour of the actuators. Depending on the topology of the contact surface, the resistance of the polymer actuators to deformation, i.e. stiffness, is varied. As opposed to their predecessors, these polymer actuators operate in air. Finite element analysis and modelling are used to quantify the effect of the contact surface on the effective stiffness of a trilayer cantilevered beam, which represents a one-end-free, the-other-end-fixed polypyrrole (PPy) conducting polymer actuator under a uniformly distributed load. After demonstrating the feasibility of the adjustable stiffness concept, experiments were conducted to determine the stiffness of bending-type conducting polymer actuators in contact with a range (20–40 mm in radius) of circular contact surfaces. The numerical and experimental results presented demonstrate that the stiffness of the actuators can be varied using a suitably profiled contact surface. The larger the radius of the contact surface is, the higher is the stiffness of the polymer actuators. The outcomes of this study suggest that, although the stiffness of the artificial muscles considered in this study is constant for a given geometric size, and electrical and chemical operation conditions, it can be changed in a nonlinear fashion to suit the stiffness requirement of a considered application. The stiffness enhancement methodology can be extended to other ionic-type conducting polymer actuators

A variable stiffness joint with electrospun P(VDF-TrFE-CTFE) variable stiffness springs

NARCIS (Netherlands)

Carloni, Raffaella; Lapp, Valerie I.; Cremonese, Andrea; Belcari, Juri; Zucchelli, Andrea

This letter presents a novel rotational variable stiffness joint that relies on one motor and a set of variable stiffness springs. The variable stiffness springs are leaf springs with a layered design, i.e., an electro-active layer of electrospun aligned nanofibers of poly(vinylidene

Pharmacological modulation of arterial stiffness.

LENUS (Irish Health Repository)

Boutouyrie, Pierre

2011-09-10

Arterial stiffness has emerged as an important marker of cardiovascular risk in various populations and reflects the cumulative effect of cardiovascular risk factors on large arteries, which in turn is modulated by genetic background. Arterial stiffness is determined by the composition of the arterial wall and the arrangement of these components, and can be studied in humans non-invasively. Age and distending pressure are two major factors influencing large artery stiffness. Change in arterial stiffness with drugs is an important endpoint in clinical trials, although evidence for arterial stiffness as a therapeutic target still needs to be confirmed. Drugs that independently affect arterial stiffness include antihypertensive drugs, mostly blockers of the renin-angiotensin-aldosterone system, hormone replacement therapy and some antidiabetic drugs such as glitazones. While the quest continues for \\'de-stiffening drugs\\

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

DEFF Research Database (Denmark)

Barisic, Ingeborg; Tokic, Visnja; Loane, Maria

2008-01-01

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present...

PRENATAL DIAGNOSIS OF ROBERT/SC SYNDROME IN A DIABETIC MOTHER WITH A HISTORY OF MEBENDAZOLE AND GLIBENCLAMIDE INTAKE

Directory of Open Access Journals (Sweden)

M. Pourissa

2003-07-01

Full Text Available The Robert/SC (pseudothalidomide syndrome is a rare autosomal recessive disorder, associated with phocomelia and craniofacial abnormalities. An anomalous fetus with lower limb phocomelia and micromelia, lumbar myeloschisis, upper limb and ribs defects and craniofacial abnormalities is reported whose diabetic mother took mebendazole and glibenclamide in early pregnancy. Ultrasonographic findings of syndromes with phocomelia are discussed as well as Robert/SC syndrome which is the most probable diagnosis. Robert/SC phocomelia syndrome is a rare autosomal recessive condition characterized by severe pre and postnatal growth deficiency, symmetric limb reductions of variable severity and craniofacial anomalies including hypertelorism, hypoplastic nasal alae, cleft lip and palate. About half of the reported cases presented chromosomal abnormalities. We think that findings in our case are consistent with Robert/SC syndrome with additional abnormalities.

The Roles of T-Box Genes in Vertebrate Limb Development.

Science.gov (United States)

Sheeba, C J; Logan, M P O

2017-01-01

Members of the T-box gene family have diverse roles during embryogenesis and many play critical roles in the developing limb. This is exemplified by the fact that, in humans, mutations in T-box genes are associated with several congenital syndromes that include limb defects as part of their characteristic spectrum of abnormalities. T-box genes encode for evolutionary conserved transcription factors that include both transcriptional activators and repressors. The hallmark of T-box gene members is the presence of the eponymous DNA-binding T-box domain. There are 17 mammalian T-box genes, which based on the sequence homology of the T-box domain, are grouped into five subfamilies, namely, T, Tbx1, Tbx2, Tbx6, and Tbr1. At least nine T-box genes are expressed during limb development with distinct and dynamic expression patterns. All four members of Tbx2 subfamily (Tbx2, Tbx3, Tbx4, Tbx5) and three members of Tbx1 (Tbx1, Tbx15, Tbx18), Brachyury (T) and Eomes (Tbr2) are expressed in the developing limb. © 2017 Elsevier Inc. All rights reserved.

Thrombocytopenia-absent radius syndrome: a clinical genetic study.

NARCIS (Netherlands)

Greenhalgh, K.L.; Howell, R.; Bottani, A.; Ancliff, P.J.; Brunner, H.G.; Verschuuren-Bemelmans, C.C.; Vernon, E.; Brown, K.W.; Newbury-Ecob, R.

2002-01-01

The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

Thrombocytopenia-absent radius syndrome : a clinical genetic study

NARCIS (Netherlands)

Greenhalgh, KL; Howell, RT; Bottani, A; Ancliff, PJ; Brunner, HG; Verschuuren-Bemelmans, CC; Vernon, E; Brown, KW; Newbury-Ecob, RA

2002-01-01

The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to

A case report and brief literature review of Klippel-Trénaunay syndrome

Directory of Open Access Journals (Sweden)

Choudhary MG

2012-05-01

Full Text Available Madan Gopal Choudhary, Zia Ul Haq, Ram Narayan Sehra, Chandra Kumar ChaharDepartment of Paediatrics, Sardar Patel Medical College and P.B.M Hospital, Rajasthan, IndiaAbstract: Klippel-Trénaunay syndrome is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trénaunay syndrome with limb hypertrophy, port-wine stains, angiokeratoma, and venous varicosities in the limbs.Keywords: Klippel-Trénaunay syndrome, sporadic, venous varicosities, port-wine stain, angiokeratoma

Diabetic foot syndrome as an interdisciplinary problem

Directory of Open Access Journals (Sweden)

Emilia Rymkiewicz

2017-08-01

Full Text Available Diabetes is a metabolic disease of the growing maturity. Diabetic foot syndrome is a chronic complications of diabetes. In neuropathic sensory disorders, ischemia of the lower limbs, and improper alignment metabolic control may occur in minor injuries around the foot, giving rise to a difficult healing ulcers. Even minor wounds rapidly infection by pathogenic bacteria, which significantly hinders their treatment. Health and life-saving solution in situations of persistent symptoms of infection is amputation of the lower limb. Doing so, however, does not solve the problem of diabetic and should be the final proceedings after having exhausted all possible treatments for diabetic foot syndrome.

Measurement and Treatment of Passive Muscle Stiffness

DEFF Research Database (Denmark)

Kirk, Henrik

, which aimed to investigate: 1) The development of a clinical method to evaluate and distinguish neural (reflex mediated stiffness) and non-neural (passive muscle stiffness) components of muscle stiffness in adults with CP by objective and reliable measurements. 2) The association between increased...... and reliability of the method, and argue for the use of the method in the clinical practice. The device is able to distinguish between passive muscle stiffness and reflex-mediated stiffness in subjects with CP. It shows good high intrarater and interrater reliability in evaluation of passive muscle stiffness...... to measure muscle stiffness, and distinguish between passive muscle stiffness and reflex-mediated stiffness. Furthermore, it is a reliable device to measure changes in passive ROM. Treatment of passive muscle stiffness should be directed towards intense training, comprising many repetitions with a functional...

Congenital varicella syndrome

Directory of Open Access Journals (Sweden)

Atul Chaudhary

2016-01-01

Full Text Available A 7 month old female presented with localized scarring over right buttock and right leg with hypoplasia of right lower limb. Mother had history of chicken pox at tenth week of pregnancy. We confirm the diagnosis of varicella zoster syndrome clinically.

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome

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Ali Al Kaissi

2016-01-01

Full Text Available Background: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS type IV (Morquio′s syndrome. However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset. Materials and Methods: Ten patients (seven children and three adults with an average age of 15 years have been enrolled in this study. Age of diagnosis of MPS IVA has a variable age of onset and a MISLEADING rate of severity. Hip dislocations, genu valgum, protrusio acetabuli and osteoarthritis were the most common lower limbs deformities in these patients. Clinical and radiographic phenotypes were the baseline tools of documentation. Urinary screening and genotypic characterizations have been applied accordingly. Results: Combined pelvic and femoral procedures for hip dislocation, epiphysiodeses and supracondylar osteotomy for genu valgum and hip arthroplasty for protrusio acetabuli have been performed. All patients manifested insufficient activity of N-acetylgalactosamine-6-sulphate sulphatase, an enzyme that degrades keratin sulphate and chondroitin-6 sulphate. Conclusion: The extensive clinical heterogeneity contributed significantly in the delay in establishing the diagnosis particularly in adult patients with MPS IV. The epiphyseal irregularities of the long bones and the progressive flattening pathology of MPS IV A were the reason to falsely diagnose some patients as spondyloepiphyseal dysplasia congenital and/or tarda. Proximal femoral osteotomy, realignment osteotomy and total hip arthroplasty have been performed for coxa vara, genu valgum and protrusio acetabuli, respectively, in children and adult group of patients. The importance of early diagnosis on MPS IV A is to receive enzyme

Central arterial stiffness and diastolic dysfunction are associated with insulin resistance and abdominal obesity in young women but polycystic ovary syndrome does not confer additional risk.

Science.gov (United States)

Rees, E; Coulson, R; Dunstan, F; Evans, W D; Blundell, H L; Luzio, S D; Dunseath, G; Halcox, J P; Fraser, A G; Rees, D A

2014-09-01

Are arterial stiffness, carotid intima-media thickness and diastolic dysfunction increased in young women with polycystic ovary syndrome (PCOS) independently of the effects of obesity? Insulin resistance and central obesity are associated with subclinical cardiovascular dysfunction in young women, but a diagnosis of PCOS does not appear to confer additional risk at this age. Some studies have shown that young women with PCOS may have increased measures of cardiovascular risk, including arterial stiffness, carotid intima-media thickness and myocardial dysfunction. However, it is difficult to establish how much of this risk is due to PCOS per se and how much is due to obesity and insulin resistance, which are common in PCOS and themselves associated with greater vascular risk. This cross-sectional study comprised 84 women with PCOS and 95 healthy volunteers, aged 16-45 years. The study was conducted in a university hospital. Subjects underwent a comprehensive assessment of body composition (including computed tomography (CT) assessment of visceral fat; VF), measurements of arterial stiffness (aortic pulse wave velocity; aPWV), common carotid intima-media thickness (ccIMT), diastolic function (longitudinal tissue velocity; e':a') and endocrinological measures. A sample size of 80 in each group gave 80% power for detecting a difference of 0.45 m/s in aPWV or a difference of 0.25 in e':a'. After adjustment for age and body mass index (BMI), PCOS subjects had a greater insulin response (insulin area under the curve-IAUC) following glucose challenge (adjusted difference [AD] 35 900 pmol min/l, P insulin resistance were only partly attenuated by adjusting for logVF. There was no significant relationship between aPWV or e':a' and either testosterone or adiponectin. The study recruited young women meeting the Rotterdam criteria for PCOS diagnosis; hence our findings may not be generalizable to older patients or those meeting other definitions of the syndrome. Biochemical

CHRONIC COMPARTMENT SYNDROME OF LOWER LEG. AN UNUSUAL CASE IN NON ATHLETIC PATIENT.

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Andrea Schiavone

2016-10-01

Full Text Available Chronic exertional anterior compartment syndrome is debilitating disease of lower limb. The clinical picture is characterised by limited symptomology at rest, pain during sporting activities, tumefaction and contractures of limb as well impotency by pain of the entire forefoot and hypoesthesia. Usually the most affected patients are athletes. We analyse a case of chronic post traumatic compartment syndrome of the anterior tibial muscle in an unsportsmanlike patient.

On gear tooth stiffness evaluation

DEFF Research Database (Denmark)

Pedersen, Niels Leergaard; Jørgensen, Martin Felix

2014-01-01

The estimation of gear stiffness is important for determining the load distribution between the gear teeth when two sets of teeth are in contact. Two factors have a major influence on the stiffness; firstly the boundary condition through the gear rim size included in the stiffness calculation...

The Greig cephalopolysyndactyly syndrome

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Biesecker Leslie G

2008-04-01

Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

Rare features associated with Mobius syndrome: Report of two cases

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Rumela Ghosh

2017-03-01

Full Text Available Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.

Dynamic stiffness of suction caissons

DEFF Research Database (Denmark)

Ibsen, Lars Bo; Liingaard, Morten; Andersen, Lars

The purpose of this report is to evaluate the dynamic soil-structure interaction of suction caissons for offshore wind turbines. The investigation is limited to a determination of the vertical dynamic stiffness of suction caissons. The soil surrounding the foundation is homogenous with linear...... viscoelastic properties. The dynamic stiffness of the suction caisson is expressed by dimensionless frequency-dependent dynamic stiffness coefficients corresponding to the vertical degree of freedom. The dynamic stiffness coefficients for the foundations are evaluated by means of a dynamic three...

Case report - Achondroplastic syndrome in a West African dwarf lamb

African Journals Online (AJOL)

A three week old, male, West African Dwarf (WAD) lamb presented with disproportionate hind limb was diagnosed of having achondroplastic syndrome by physical and radiological examination. Physical examination showed the right hind limb was deformed at the level of the tarsus, metatarsus and phalanges. Radiological ...

Sirenomelia: four further cases with discussion of associated upper limb defects.

Science.gov (United States)

Moosa, Shahida; Lambie, Lindsay Ann; Krause, Amanda

2012-07-01

Sirenomelia, also known as the 'mermaid malformation/syndrome', is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated severe malformations of the lower vertebral and genitourinary systems. In this report, we describe a series of African patients with sirenomelia. We present the clinical and radiological features of four black South African patients and illustrate some of the rarer associated abnormalities, which include asymmetrical upper limb defects, not confined to the radial ray. The clinical phenotypic overlap between caudal dysgenesis, VACTERL association and sirenomelia in our patients is highlighted, lending support to the theory that these entities may be different manifestations of a single pathogenic process.

Effect of Jump Interval Training on Kinematics of the Lower Limbs and Running Economy.

Science.gov (United States)

Ache-Dias, Jonathan; Pupo, Juliano Dal; Dellagrana, Rodolfo A; Teixeira, Anderson S; Mochizuki, Luis; Moro, Antônio R P

2018-02-01

Ache-Dias, J, Pupo, JD, Dellagrana, RA, Teixeira, AS, Mochizuki, L, and Moro, ARP. Effect of jump interval training on kinematics of the lower limbs and running economy. J Strength Cond Res 32(2): 416-422, 2017-This study analyzed the effects of the addition of jump interval training (JIT) to continuous endurance training (40-minute running at 70% of peak aerobic velocity, 3 times per week for 4 weeks) on kinematic variables and running economy (RE) during submaximal constant-load running. Eighteen recreational runners, randomized into control group (CG) or experimental group (EG) performed the endurance training. In addition, the EG performed the JIT twice per week, which consisted of 4-6 bouts of continuous vertical jumping (30 seconds) with 5-minute intervals. The oxygen consumption (V[Combining Dot Above]O2) during the submaximal test (performed at 9 km·h) was similar before (EG: 38.48 ± 2.75 ml·kg·min; CG: 36.45 ± 2.70 ml·kg·min) and after training (EG: 37.42 ± 2.54 ml·kg·min; CG: 35.81 ± 3.10 ml·kg·min). No effect of training, group, or interaction (p > 0.05) was found for RE. There was no interaction or group effect for the kinematic variables (p > 0.05). Most of the kinematic variables had a training effect for both groups (support time [p ≤ 0.05]; step rate [SR; p ≤ 0.05]; and step length [SL; p ≤ 0.05]). In addition, according to the practical significance analysis (percentage chances of a better/trivial/worse effect), important effects in leg stiffness (73/25/2), vertical stiffness (73/25/2), SR (71/27/2), and SL (64/33/3) were found for the EG. No significant relationship between RE and stiffness were found for EG and CG. In conclusion, the results suggest that JIT induces important changes in the kinematics of the lower limbs of recreational runners, but the changes do not affect RE.

Hoff Mann′s syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases

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Atchayaram Nalini

2014-01-01

Full Text Available Two adult men presented with the rare Hoffmann′s syndrome (HS. Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration. Had periorbital edema, dry skin, generalized muscle hypertrophy and spastic dysarthria with hoarseness. Muscle power was normal. Jaw jerk and deep tendon reflexes were exaggerated. Case 2: A 24-year-old male patient presented with muscle hypertrophy from childhood, slowness in motor activities and hearing impairment. For 6 months, he had severe muscle pains, cramps and further increase in hypertrophy. He had yellow tinged, dry skin, hoarseness of voice, gross muscle hypertrophy and minimal weakness. Both had markedly elevated serum creatine kinase (CK levels and high thyroid stimulating hormone, low free triiodothyronine and free thyroxine levels. Levothyroxine treatment demonstrated remarkable reduction in muscle bulk at 2 months in both and no symptoms at 6 months. Magnetic resonance imaging of lower limbs in both cases revealed almost identical features with involvement of the muscles of posterior and adductor compartment of thighs and posterior and lateral compartments of the legs. Differential diagnosis of long duration muscle pseudohypertrophy and elevated CK levels should include HS.

LSODE, 1. Order Stiff or Non-Stiff Ordinary Differential Equations System Initial Value Problems

International Nuclear Information System (INIS)

Hindmarsh, A.C.; Petzold, L.R.

2005-01-01

1 - Description of program or function: LSODE (Livermore Solver for Ordinary Differential Equations) solves stiff and non-stiff systems of the form dy/dt = f. In the stiff case, it treats the Jacobian matrix df/dy as either a dense (full) or a banded matrix, and as either user-supplied or internally approximated by difference quotients. It uses Adams methods (predictor-corrector) in the non-stiff case, and Backward Differentiation Formula (BDF) methods (the Gear methods) in the stiff case. The linear systems that arise are solved by direct methods (LU factor/solve). The LSODE source is commented extensively to facilitate modification. Both a single-precision version and a double-precision version are available. 2 - Methods: It is assumed that the ODEs are given explicitly, so that the system can be written in the form dy/dt = f(t,y), where y is the vector of dependent variables, and t is the independent variable. LSODE contains two variable-order, variable- step (with interpolatory step-changing) integration methods. The first is the implicit Adams or non-stiff method, of orders one through twelve. The second is the backward differentiation or stiff method (or BDF method, or Gear's method), of orders one through five. 3 - Restrictions on the complexity of the problem: The differential equations must be given in explicit form, i.e., dy/dt = f(y,t). Problems with intermittent high-speed transients may cause inefficient or unstable performance

Bartsocas-papas syndrome: unusual findings in the first reported egyptian family.

Science.gov (United States)

Abdalla, E M; Morsy, H

2011-01-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was a female infant with severe craniofacial and limb anomalies typical of Bartsocas-Papas syndrome, a similarly affected female fetus which died in utero at the 7th gestational month, and a 16-year-old mentally retarded uncle who presented with some of the typical features of Bartsocas-Papas syndrome, including syndactyly, thumb hypoplasia, and microphthalmia. This male patient actually did not present with pterygia, however, we find his clinical description noteworthy.

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

Science.gov (United States)

Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

2013-11-16

Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981-2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992-2010 using χ² tests, as well as CLD association with anomalies affecting other organs. The birth prevalence of CLD was 21.1/10,000 births for 1981-2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992-2010.

Silver-Russell syndrome

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Shohela Akhter

2016-08-01

Full Text Available Silver-Russell syndrome is clinically and genetically a heterogeneous disorder. In most of the cases, etiology is unknown, only in 10% cases defect in chromosome 7 is identified. It bas distinctive facial features and asymmetric limbs. Most predominant symptom is growth failure. A case of Silver-Russell syndrome reported here who presented with growth failure, hemihypertrophy ofleft side oftbe body, dysmorphic facial profile and difficulty in speech. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.

Case report 509: Proteus syndrome

Energy Technology Data Exchange (ETDEWEB)

Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

1988-10-01

Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back.

Case report 509: Proteus syndrome

International Nuclear Information System (INIS)

Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

1988-01-01

Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back. (orig.)

Poland-Mobius syndrome in an infant girl

OpenAIRE

Al-Mazrou, Khalid A.; Al-Ghonaim, Yazeed A.; Al-Fayez, Abdulrhman I.

2009-01-01

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies. Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with conge...

Clinical predictors of lacunar syndrome not due to lacunar infarction

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Comes Emili

2010-05-01

Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

Anophthalmia-Waardenburg syndrome: a report of three cases.

Science.gov (United States)

Suyugül, Z; Seven, M; Hacihanefioğlu, S; Kartal, A; Suyugül, N; Cenani, A

1996-04-24

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.

Evaluation of Genes Involved in Limb Development, Angiogenesis, and Coagulation as Risk Factors for Congenital Limb Deficiencies

Science.gov (United States)

Browne, Marilyn L.; Carter, Tonia C.; Kay, Denise M.; Kuehn, Devon; Brody, Lawrence C.; Romitti, Paul A.; Liu, Aiyi; Caggana, Michele; Druschel, Charlotte M.; Mills, James L.

2012-01-01

We conducted a population-based case-control study of single nucleotide polymorphisms (SNPs) in selected genes to find common variants that play a role in the etiology of limb deficiencies (LD)s. Included in the study were 389 infants with LDs of unknown cause and 980 unaffected controls selected from all births in New York State (NYS) for the years 1998 to 2005. We used cases identified from the NYS Department of Health (DOH) Congenital Malformations Registry. Genotypes were obtained for 132 SNPs in genes involved in limb development (SHH, WNT7A, FGF4, FGF8, FGF10, TBX3, TBX5, SALL4, GREM1, GDF5, CTNNB1, EN1, CYP26A1, CYP26B1), angiogenesis (VEGFA, HIF1A, NOS3), and coagulation (F2, F5, MTHFR). Genotype call rates were >97% and SNPs were tested for departure from Hardy-Weinberg expectations by race/ethnic subgroups. For each SNP, odds ratios (OR)s and confidence intervals (CI)s were estimated and corrected for multiple comparisons for all LDs combined and for LD subtypes. Among non-Hispanic white infants, associations between FGF10 SNPs rs10805683 and rs13170645 and all LDs combined were statistically significant following correction for multiple testing (OR=1.99; 95% CI=1.43-2.77; uncorrected p=0.000043 for rs10805683 heterozygous genotype, and OR=2.37; 95% CI=1.48-3.78; uncorrected p=0.00032 for rs13170645 homozygous minor genotype). We also observed suggestive evidence for associations with SNPs in other genes including CYP26B1 and WNT7A. Animal studies have shown that FGF10 induces formation of the apical ectodermal ridge and is necessary for limb development. Our data suggest that common variants in FGF10 increase the risk for a wide range of non-syndromic limb deficiencies. PMID:22965740

Properties and determination of the interface stiffness

International Nuclear Information System (INIS)

Du Danxu; Zhang Hao; Srolovitz, David J.

2007-01-01

The chemical potential of a curved interface contains a term that is proportional to the product of the interface curvature and the interface stiffness. In crystalline materials, the interface stiffness is a tensor. This paper examines several basic issues related to the properties of the interface stiffness, especially the determination of the interface stiffness in particular directions (i.e. the commonly used scalar form of the interface stiffness). Of the five parameters that describe an arbitrary grain boundary, only those describing the inclination are crucial for the scalar stiffness. We also examine the influence of crystal symmetry on the stiffness tensor for both free surfaces and grain boundaries. This results in substantial simplifications for cases in which interfaces possess mirror or rotational symmetries. An efficient method for determining the interface stiffness tensor using atomistic simulations is proposed

From fins to limbs to fins: limb evolution in fossil marine reptiles.

Science.gov (United States)

Caldwell, Michael W

2002-10-15

Limb osteology and ontogenetic patterns of limb ossification are reviewed for extinct lineages of aquatically adapted diapsid reptiles. Phylogenies including these fossil taxa show that paddle-like limbs were independently derived, and that the varied limb morphologies were produced by evolutionary modifications to different aspects of the limb skeleton. Ancient marine reptiles modify the limb by reducing the relative size of the epipodials, modifying the perichondral and periosteal surface of elements distal to the propodials, and evolving extremes of hyperphalangy and hyperdactyly. Developmental genetic models illuminate gene systems that may have controlled limb evolution in these animals. Copyright 2002 Wiley-Liss, Inc.

Grebe syndrome with bilateral fibular hemimelia and thumb duplication

International Nuclear Information System (INIS)

Rao, Narasimha; Joseph, Benjamin

2002-01-01

Grebe syndrome is a rare recessively inherited form of short-limbed dwarfism. Among the skeletal anomalies reported in the past, complete fibular hemimelia and thumb duplication have not been documented. We report a case of Grebe syndrome with these associated anomalies and review the various skeletal anomalies reported in the literature related to this syndrome. Awareness of the skeletal anomalies that can occur in this syndrome should enable an accurate diagnosis. (orig.)

Grebe syndrome with bilateral fibular hemimelia and thumb duplication

Energy Technology Data Exchange (ETDEWEB)

Rao, Narasimha; Joseph, Benjamin [Department of Orthopaedics, Kasturba Medical College, Karnataka State (India)

2002-03-01

Grebe syndrome is a rare recessively inherited form of short-limbed dwarfism. Among the skeletal anomalies reported in the past, complete fibular hemimelia and thumb duplication have not been documented. We report a case of Grebe syndrome with these associated anomalies and review the various skeletal anomalies reported in the literature related to this syndrome. Awareness of the skeletal anomalies that can occur in this syndrome should enable an accurate diagnosis. (orig.)

Metacarpophalangeal joint stiffness. Still a challenge for the hand surgeon?

Science.gov (United States)

Jiménez, I; Muratore-Moreno, G; Marcos-García, A; Medina, J

2016-01-01

The aim of this study is to analyse the outcomes of the surgical treatment of metacarpophalangeal stiffness by dorsal teno-arthrolysis in our centre, and present a review the literature. This is a retrospective study of 21 cases of metacarpophalangeal stiffness treated surgically. Dorsal teno-arthrolysis was carried out on all patients. A rehabilitation programme was started ten days after surgery. An evaluation was performed on the aetiology, variation in pre- and post-operative active mobility, complications, DASH questionnaire, and a subjective satisfaction questionnaire. The mean age of the patients was 36.5 years and the mean follow-up was 6.5 years. Of the 21 cases, the most common cause was a metacarpal fracture (52.4%), followed by complex trauma of the forearm (19%). Improvement in active mobility was 30.5°, despite obtaining an intra-operative mobility 0-90° in 80% of cases. Mean DASH questionnaire score was 36.9 points. The outcome was described as excellent in 10% of our patients, good in 30%, poor in 40%, and bad in the remaining 20%. There was a complex regional pain syndrome in 9.5% of cases, and intrinsic muscle injury in 14.3%. Because of its difficult management and poor outcomes, surgical treatment of metacarpophalangeal stiffness in extension is highly complex, with dorsal teno-arthrolysis being a reproducible technique according to our results, and the results reported in the literature. Copyright © 2016 SECOT. Published by Elsevier Espana. All rights reserved.

A Novel Variable Stiffness Mechanism Capable of an Infinite Stiffness Range and Unlimited Decoupled Output Motion

Directory of Open Access Journals (Sweden)

Stefan Groothuis

2014-06-01

Full Text Available In this paper, a novel variable stiffness mechanism is presented, which is capable of achieving an output stiffness with infinite range and an unlimited output motion, i.e., the mechanism output is completely decoupled from the rotor motion, in the zero stiffness configuration. The mechanism makes use of leaf springs, which are engaged at different positions by means of two movable supports, to realize the variable output stiffness. The Euler–Bernoulli leaf spring model is derived and validated through experimental data. By shaping the leaf springs, it is shown that the stiffness characteristic of the mechanism can be changed to fulfill different application requirements. Alternative designs can achieve the same behavior with only one leaf spring and one movable support pin.

Genetics Home Reference: ophthalmo-acromelic syndrome

Science.gov (United States)

... The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small ( microphthalmia ). Usually ... limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome . It ...

Stiffness of desiccating insect wings

International Nuclear Information System (INIS)

Mengesha, T E; Vallance, R R; Mittal, R

2011-01-01

The stiffness of insect wings is typically determined through experimental measurements. Such experiments are performed on wings removed from insects. However, the wings are subject to desiccation which typically leads to an increase in their stiffness. Although this effect of desiccation is well known, a comprehensive study of the rate of change in stiffness of desiccating insect wings would be a significant aid in planning experiments as well as interpreting data from such experiments. This communication presents a comprehensive experimental analysis of the change in mass and stiffness of gradually desiccating forewings of Painted Lady butterflies (Vanessa cardui). Mass and stiffness of the forewings of five butterflies were simultaneously measured every 10 min over a 24 h period. The averaged results show that wing mass declined exponentially by 21.1% over this time period with a time constant of 9.8 h, while wing stiffness increased linearly by 46.2% at a rate of 23.4 μN mm -1 h -1 . For the forewings of a single butterfly, the experiment was performed over a period of 1 week, and the results show that wing mass declined exponentially by 52.2% with a time constant of 30.2 h until it reached a steady-state level of 2.00 mg, while wing stiffness increased exponentially by 90.7% until it reached a steady-state level of 1.70 mN mm -1 . (communication)

Stiffness of desiccating insect wings

Energy Technology Data Exchange (ETDEWEB)

Mengesha, T E; Vallance, R R [Department of Mechanical Engineering, The George Washington University, 738 Phillips Hall, 801 22nd St NW, Washington, DC 20052 (United States); Mittal, R, E-mail: vallance@gwu.edu [Department of Mechanical Engineering, Johns Hopkins University, 126 Latrobe Hall, 3400 N Charles Street, Baltimore, MD 21218 (United States)

2011-03-15

The stiffness of insect wings is typically determined through experimental measurements. Such experiments are performed on wings removed from insects. However, the wings are subject to desiccation which typically leads to an increase in their stiffness. Although this effect of desiccation is well known, a comprehensive study of the rate of change in stiffness of desiccating insect wings would be a significant aid in planning experiments as well as interpreting data from such experiments. This communication presents a comprehensive experimental analysis of the change in mass and stiffness of gradually desiccating forewings of Painted Lady butterflies (Vanessa cardui). Mass and stiffness of the forewings of five butterflies were simultaneously measured every 10 min over a 24 h period. The averaged results show that wing mass declined exponentially by 21.1% over this time period with a time constant of 9.8 h, while wing stiffness increased linearly by 46.2% at a rate of 23.4 {mu}N mm{sup -1} h{sup -1}. For the forewings of a single butterfly, the experiment was performed over a period of 1 week, and the results show that wing mass declined exponentially by 52.2% with a time constant of 30.2 h until it reached a steady-state level of 2.00 mg, while wing stiffness increased exponentially by 90.7% until it reached a steady-state level of 1.70 mN mm{sup -1}. (communication)

Intermittent Massage as a Therapeutic Option for Compartment Syndrome after Embolectomy of the Lower Limbs

Directory of Open Access Journals (Sweden)

José Maria Pereira de Godoy

2018-01-01

Full Text Available The case of a 54-year-old cardiac patient is reported, who was admitted to hospital with a complaint of sudden pain in the legs associated with edema, paresthesia, and coldness. Arterial embolism of the lower limbs was diagnosed and the patient was submitted to bilateral embolectomy. The patient evolved with a burning sensation, hypersensitivity in the right leg, swelling, and difficulty bending and stretching the sole of the foot and the knee. A physical examination detected edema and increased tension in the anterior, lateral, and posterior compartments. Treatment using intermittent massage of the leg during the evaluation of the patient was chosen in an attempt to stimulate lymphatic and venous drainage. After a few minutes of stimulation, there was significant improvement in the pain and edema. In 40 minutes, there was total reduction of the pain in the posterior and lateral compartments and improvement of over 50% in the anterior compartment. After this, the patient started to bend the knee without pain and bend the sole of the foot with slight pain. On the following day, the patient was walking around the hospital ward without difficulty. It seems that intermittent massage is a therapeutic option in selected cases of compartment syndrome.

Arterial stiffness is increased in asymptomatic nondiabetic postmenopausal women with a polycystic ovary syndrome phenotype.

Science.gov (United States)

Armeni, Eleni; Stamatelopoulos, Kimon; Rizos, Demetrios; Georgiopoulos, George; Kazani, Maria; Kazani, Aikaterini; Kolyviras, Athanasios; Stellos, Konstantinos; Panoulis, Konstantinos; Alexandrou, Andreas; Creatsa, Maria; Papamichael, Christos; Lambrinoudaki, Irene

2013-10-01

The metabolic dysfunction accompanying the polycystic ovary syndrome (PCOS) may increase the risk of hypertension and cardiovascular disease (CVD). Although menopause per se may be an additional risk factor of CVD, the association between PCOS in postmenopausal women and cardiovascular risk has not been adequately investigated. We aimed to evaluate the effect of PCOS on markers of subclinical atherosclerosis in nondiabetic postmenopausal women. This cross-sectional study included 286 postmenopausal women with intact ovaries. PCOS phenotype was defined if three of the following were present: insulin resistance, current hyperandrogenism or history of clinical androgen excess, history of infertility, central obesity and history of irregular menses. Traditional CVD risk factors, as well as indices of arterial structure (intima-media thickness, atheromatous plaques presence) and function [flow-mediated dilation, pulse wave velocity (PWV), augmentation index] were compared between women with a PCOS phenotype and the rest of the sample, who served as controls. Women with the PCOS phenotype (N=43) had higher SBP and triglycerides and lower high-density lipoprotein (HDL)-cholesterol than controls. Mean values of PWV differed significantly between PCOS cases and controls (9.46±1.74 vs. 8.60±1.51 m/s, P=0.001, univariate). Multivariate regression analysis showed that the PCOS phenotype, age and SBP were the only independent predictors of PWV. Arterial stiffness is increased in asymptomatic, nondiabetic women with a putative PCOS phenotype, independently of age, BMI or blood pressure. This might present one mechanism through which PCOS increases the risk of CVD and hypertension later in life.

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Science.gov (United States)

Maas, S M; Lombardi, M P; van Essen, A J; Wakeling, E L; Castle, B; Temple, I K; Kumar, V K A; Writzl, K; Hennekam, Raoul C M

2009-10-01

Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin syndrome. A series of 17 patients with Goltz-Gorlin syndrome is reported on, and their phenotype and genotype are described. In 14 patients (13 females and one male), a PORCN mutation was found. Mutations included nonsense (n = 5), frameshift (n = 2), aberrant splicing (n = 2) and missense (n = 5) mutations. No genotype-phenotype correlation was found. All patients with the classical features of the syndrome had a detectable mutation. In three females with atypical signs, no mutation was found. The male patient had classical features and showed mosaicism for a PORCN nonsense mutation in fibroblasts. Two affected sisters had a mutation not detectable in their parents, supporting germline mosaicism. Their father had undergone radiation for testicular cancer in the past. Two classically affected females had three severely affected female fetuses which all had midline thoracic and abdominal wall defects, resembling the pentalogy of Cantrell and the limb-body wall complex. Thoracic and abdominal wall defects were also present in two surviving patients. PORCN mutations can possibly cause pentalogy of Cantrell and limb-body wall complexes as well. Therefore, particularly in cases with limb defects, it seems useful to search for these. PORCN mutations can be found in all classically affected cases of Goltz-Gorlin syndrome, including males. Somatic and germline mosaicism occur. There is no evident genotype-phenotype correlation.

Expanding the mutation and clinical spectrum of Roberts syndrome.

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Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

2016-07-01

Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

Stiffness of a wobbling mass models analysed by a smooth orthogonal decomposition of the skin movement relative to the underlying bone.

Science.gov (United States)

Dumas, Raphaël; Jacquelin, Eric

2017-09-06

The so-called soft tissue artefacts and wobbling masses have both been widely studied in biomechanics, however most of the time separately, from either a kinematics or a dynamics point of view. As such, the estimation of the stiffness of the springs connecting the wobbling masses to the rigid-body model of the lower limb, based on the in vivo displacements of the skin relative to the underling bone, has not been performed yet. For this estimation, the displacements of the skin markers in the bone-embedded coordinate systems are viewed as a proxy for the wobbling mass movement. The present study applied a structural vibration analysis method called smooth orthogonal decomposition to estimate this stiffness from retrospective simultaneous measurements of skin and intra-cortical pin markers during running, walking, cutting and hopping. For the translations about the three axes of the bone-embedded coordinate systems, the estimated stiffness coefficients (i.e. between 2.3kN/m and 55.5kN/m) as well as the corresponding forces representing the connection between bone and skin (i.e. up to 400N) and corresponding frequencies (i.e. in the band 10-30Hz) were in agreement with the literature. Consistently with the STA descriptions, the estimated stiffness coefficients were found subject- and task-specific. Copyright © 2017 Elsevier Ltd. All rights reserved.

Surgical trauma induces overgrowth in lower limb gigantism: regulation with use of rapamycin is promising.

Science.gov (United States)

Pinto, Rohan Sebastian; Harrison, William David; Graham, Kenneth; Nayagam, Durai

2018-01-04

We describe an unclassified overgrowth syndrome characterised by unregulated growth of dermal fibroblasts in the lower limbs of a 35-year-old woman. A PIK3CA gene mutation resulted in lower limb gigantism. Below the waist, she weighed 117 kg with each leg measuring over 100 cm in circumference. Her total adiposity was 50% accounted for by her legs mainly. Liposuction and surgical debulking were performed to reduce the size of the limbs but had exacerbated the overgrowth in her lower limbs. Systemic sepsis from an infected foot ulcer necessitated treatment by an above-knee amputation. Postoperatively, the stump increased in size by 19 kg. A trial of rapamycin to reverse the growth of the stump has shown promise. We discuss the clinical and genetic features of this previously unclassified disorder and the orthopaedic considerations involved. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Shoulder Stiffness : Current Concepts and Concerns

NARCIS (Netherlands)

Itoi, Eiji; Arce, Guillermo; Bain, Gregory I.; Diercks, Ronald L.; Guttmann, Dan; Imhoff, Andreas B.; Mazzocca, Augustus D.; Sugaya, Hiroyuki; Yoo, Yon-Sik

Shoulder stiffness can be caused by various etiologies such as immobilization, trauma, or surgical interventions. The Upper Extremity Committee of ISAKOS defined the term "frozen shoulder" as idiopathic stiff shoulder, that is, without a known cause. Secondary stiff shoulder is a term that should be

Radiological features of late-onset lymphoedema in Noonan's syndrome

Energy Technology Data Exchange (ETDEWEB)

Ho, Wan-Ling; Wang, Jou-Kou [Department of Pediatrics, National Taiwan University Hospital, Taipei (Taiwan); Li, Yiu-Wah [Department of Radiology, National Taiwan University Hospital, Taipei (Taiwan)

2003-03-01

Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented. (orig.)

The link between exercise and titin passive stiffness.

Science.gov (United States)

Lalande, Sophie; Mueller, Patrick J; Chung, Charles S

2017-09-01

What is the topic of this review? This review focuses on how in vivo and molecular measurements of cardiac passive stiffness can predict exercise tolerance and how exercise training can reduce cardiac passive stiffness. What advances does it highlight? This review highlights advances in understanding the relationship between molecular (titin-based) and in vivo (left ventricular) passive stiffness, how passive stiffness modifies exercise tolerance, and how exercise training may be therapeutic for cardiac diseases with increased passive stiffness. Exercise can help alleviate the negative effects of cardiovascular disease and cardiovascular co-morbidities associated with sedentary behaviour; this may be especially true in diseases that are associated with increased left ventricular passive stiffness. In this review, we discuss the inverse relationship between exercise tolerance and cardiac passive stiffness. Passive stiffness is the physical property of cardiac muscle to produce a resistive force when stretched, which, in vivo, is measured using the left ventricular end diastolic pressure-volume relationship or is estimated using echocardiography. The giant elastic protein titin is the major contributor to passive stiffness at physiological muscle (sarcomere) lengths. Passive stiffness can be modified by altering titin isoform size or by post-translational modifications. In both human and animal models, increased left ventricular passive stiffness is associated with reduced exercise tolerance due to impaired diastolic filling, suggesting that increased passive stiffness predicts reduced exercise tolerance. At the same time, exercise training itself may induce both short- and long-term changes in titin-based passive stiffness, suggesting that exercise may be a treatment for diseases associated with increased passive stiffness. Direct modification of passive stiffness to improve exercise tolerance is a potential therapeutic approach. Titin passive stiffness itself may

Acute compartment syndrome after muscle rupture in a non-athlete.

OpenAIRE

Thennavan, A S; Funk, L; Volans, A P

1999-01-01

Acute compartment syndrome after muscle rupture, although rare, is a limb threatening condition, which warrants emergency treatment. The case of acute compartment syndrome secondary to a gastrocnemius muscle tear of the right lower leg, in a non-athlete is reported. To our knowledge, this is the only description of acute compartment syndrome due to muscle rupture in a non-athlete.

A review of supernumerary and absent limbs and digits of the upper limb.

Science.gov (United States)

Klaassen, Zachary; Choi, Monica; Musselman, Ruth; Eapen, Deborah; Tubbs, R Shane; Loukas, Marios

2012-03-01

For years people have been enamored by anomalies of the human limbs, particularly supernumerary and absent limbs and digits. Historically, there are a number of examples of such anomalies, including royal families of ancient Chaldea, tribes from Arabia, and examples from across nineteenth century Europe. The development of the upper limbs in a growing embryo is still being elucidated with the recent advent of homeobox genes, but researchers agree that upper limbs develop between stages 12-23 through a complex embryological process. Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abnormality. Supernumerary and absent limbs and digits are not unique to humans, and a number of animal cases have also been reported. This review of the literature illustrates the historical, anatomical, and clinical aspects of supernumerary and absent limbs and digits for the upper limb.

Efficient Method for Calculating the Composite Stiffness of Parabolic Leaf Springs with Variable Stiffness for Vehicle Rear Suspension

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Wen-ku Shi

2016-01-01

Full Text Available The composite stiffness of parabolic leaf springs with variable stiffness is difficult to calculate using traditional integral equations. Numerical integration or FEA may be used but will require computer-aided software and long calculation times. An efficient method for calculating the composite stiffness of parabolic leaf springs with variable stiffness is developed and evaluated to reduce the complexity of calculation and shorten the calculation time. A simplified model for double-leaf springs with variable stiffness is built, and a composite stiffness calculation method for the model is derived using displacement superposition and material deformation continuity. The proposed method can be applied on triple-leaf and multileaf springs. The accuracy of the calculation method is verified by the rig test and FEA analysis. Finally, several parameters that should be considered during the design process of springs are discussed. The rig test and FEA analytical results indicate that the calculated results are acceptable. The proposed method can provide guidance for the design and production of parabolic leaf springs with variable stiffness. The composite stiffness of the leaf spring can be calculated quickly and accurately when the basic parameters of the leaf spring are known.

Hydration Status Is Associated with Aortic Stiffness, but Not with Peripheral Arterial Stiffness, in Chronically Hemodialysed Patients

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Daniel Bia

2015-01-01

Full Text Available Background. Adequate fluid management could be essential to minimize high arterial stiffness observed in chronically hemodialyzed patients (CHP. Aim. To determine the association between body fluid status and central and peripheral arterial stiffness levels. Methods. Arterial stiffness was assessed in 65 CHP by measuring the pulse wave velocity (PWV in a central arterial pathway (carotid-femoral and in a peripheral pathway (carotid-brachial. A blood pressure-independent regional arterial stiffness index was calculated using PWV. Volume status was assessed by whole-body multiple-frequency bioimpedance. Patients were first observed as an entire group and then divided into three different fluid status-related groups: normal, overhydration, and dehydration groups. Results. Only carotid-femoral stiffness was positively associated (P<0.05 with the hydration status evaluated through extracellular/intracellular fluid, extracellular/Total Body Fluid, and absolute and relative overhydration. Conclusion. Volume status and overload are associated with central, but not peripheral, arterial stiffness levels with independence of the blood pressure level, in CHP.

Breast Carcinoma Associated with Poland's Syndrome: One Case Report and Literatures Review

Institute of Scientific and Technical Information of China (English)

Xin Wang; Liansheng Ning

2008-01-01

@@ Introduction Poland's syndrome is a rare congenital anomaly,characterized by abnormalities of the chest wall,breast,spine and upper limb.The incidence of this syndrome has been estimated to be 1:30000.The pathogenesis is still uncleart[1].

Comparison of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With Atenolol.

Science.gov (United States)

Hwang, Ji-Won; Kim, Eun Kyoung; Jang, Shin Yi; Chung, Tae-Young; Ki, Chang-Seok; Sung, Kiick; Kim, Sung Mok; Ahn, Joonghyun; Carriere, Keumhee; Choe, Yeon Hyeon; Chang, Sung-A; Kim, Duk-Kyung

2017-11-29

The aim of this study was to evaluate the effect of aliskiren on aortic stiffness in patients with Marfan syndrome (MS). Twenty-eight MS patients (mean age ± standard deviation: 32.6 ± 10.6 years) were recruited from November 2009 to October 2014. All patients were receiving atenolol as standard beta-blocker therapy. A prospective randomization process was performed to assign participants to either aliskiren treatment (150-300mg orally per day) or no aliskiren treatment (negative control) in an open-label design. Central aortic distensibility and central pulsed wave velocity (PWV) by magnetic resonance imaging (MRI), peripheral PWV, central aortic blood pressure and augmentation index by peripheral tonometry, and aortic dilatation by echocardiography were examined initially and after 24 weeks. The primary endpoint was central aortic distensibility by MRI. In analyses of differences between baseline and 24 weeks for the aliskiren treatment group vs the negative control group, central distensibility (overall; P = .26) and central PWV (0.2 ± 0.9 vs 0.03 ± 0.7 [m/s]; P = .79) by MRI were not significantly different. Central systolic aortic blood pressure tended to be lower by 14mmHg in patients in the aliskiren treatment group than in the control group (P = .09). A significant decrease in peripheral PWV (brachial-ankle PWV) in the aliskiren treatment group (-1.6 m/s) compared with the control group (+0.28 m/s) was noted (P = .005). Among patients with MS, the addition of aliskiren to beta-blocker treatment did not significantly improve central aortic stiffness during a 24-week period. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

Neu-Laxova syndrome in an appropriate for gestational age newborn

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Dilli Dilek

2008-01-01

Full Text Available Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.

Lumbar dorsal ramus syndrome.

Science.gov (United States)

Bogduk, N

1980-11-15

Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

Comparison of muscle and joint pressure-pain thresholds in patients with complex regional pain syndrome and upper limb pain of other origin.

Science.gov (United States)

Mainka, Tina; Bischoff, Florian S; Baron, Ralf; Krumova, Elena K; Nicolas, Volkmar; Pennekamp, Werner; Treede, Rolf-Detlef; Vollert, Jan; Westermann, Andrea; Maier, Christoph

2014-03-01

Pain localized in the deep tissues occurs frequently in complex regional pain syndrome (CRPS). In addition, hyperalgesia to blunt pressure over muscles is common in CRPS, but it often appears in limb pain of other origin as well. Considering that 3-phase bone scintigraphy (TPBS) reveals periarticular enhanced bone metabolism in CRPS, joint-associated hyperalgesia to blunt pressure might be a more specific finding than hyperalgesia over muscles. In 34 patients with upper limb pain (18 CRPS, 16 non-CRPS; diagnosed in accordance to the Budapest criteria) and in 18 healthy controls, pressure-pain thresholds (PPT) were assessed bilaterally over the thenar (PPTThenar), the metacarpophalangeal (PPTMCP), and the proximal interphalangeal (PPTPIP) joints using a pressure algometer (Somedic, Sweden). Beforehand, all patients had received TPBS for diagnostic purposes independently of the study. Region-of-interest (ROI) ratios (mineralization phase) for the MCP and PIP, excluding fracture sites, were correlated with the PPT. In CRPS, all ROI ratios were significantly increased and all PPT of the affected hand were decreased compared to non-CRPS (PPTThenar: 243±150kPa vs 358±197kPa, PPTMCP: 80±67kPa vs 159±93kPa, PPTPIP: 80±56kPa vs 184±110kPa; PPain. Published by Elsevier B.V. All rights reserved.

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

Science.gov (United States)

Malik, Sajid; Afzal, Muhammad

2013-03-01

Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

VCODE, Ordinary Differential Equation Solver for Stiff and Non-Stiff Problems

International Nuclear Information System (INIS)

Cohen, Scott D.; Hindmarsh, Alan C.

2001-01-01

1 - Description of program or function: CVODE is a package written in ANSI standard C for solving initial value problems for ordinary differential equations. It solves both stiff and non stiff systems. In the stiff case, it includes a variety of options for treating the Jacobian of the system, including dense and band matrix solvers, and a preconditioned Krylov (iterative) solver. 2 - Method of solution: Integration is by Adams or BDF (Backward Differentiation Formula) methods, at user option. Corrector iteration is by functional iteration or Newton iteration. For the solution of linear systems within Newton iteration, users can select a dense solver, a band solver, a diagonal approximation, or a preconditioned Generalized Minimal Residual (GMRES) solver. In the dense and band cases, the user can supply a Jacobian approximation or let CVODE generate it internally. In the GMRES case, the pre-conditioner is user-supplied

Poland-Mobius syndrome in an infant girl.

Science.gov (United States)

Al-Mazrou, Khalid A; Al-Ghonaim, Yazeed A; Al-Fayez, Abdulrhman I

2009-01-01

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

Robinow Syndrome: A Rare Case Report and Review of Literature

OpenAIRE

Soman, Cristalle; Lingappa, Ashok

2015-01-01

ABSTRACT Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessive group. The syndrome is also known as Robinow-Silverman-Smith syndrome, Robinow dwarfism,...

[A case of Isaacs' syndrome associated with dextrocardia].

Science.gov (United States)

Torres, L; Cosentino, C; Vélez, M; Anicama, A

Isaacs syndrome is a disorder of unknown etiology characterized by muscular rigidity, cramps and myokymias. Described by Isaacs in 1961 and called by him as continuous muscular activity syndrome. There are few reports in Latino american countries. A 31 year-old man with sustained muscular contractions in lower limbs and diffuse myokymias since he was eighteen-year old. Dextrocardia was disclosed on clinical examination. We report the case of a patient with Isaacs syndrome and dextrocardia.

Malignant B-cell lymphoma in an infant with severe combined immunodeficiency with short-limbed skeletal dysplasia

NARCIS (Netherlands)

van den Berg, H.; Wage, K.; Burggraaf, J. D.; Peters, M.

1997-01-01

In an infant with skeletal anomalies and haemolytic disease, intestinal perforation was caused by necrosis of an as yet undetected B-cell lymphoma. Severe combined immunodeficiency with short-limbed skeletal dysplasia was diagnosed. This is the first published report of a patient with this syndrome

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

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Al Hadhoud F

2017-09-01

Full Text Available Fatemah Al Hadhoud,1 Abeer H Kamal,1 Abdulmohsen Al Anjari,1 Michael FE Diejomaoh1,2 1Department of Obstetrics and Gynecology, Maternity Hospital, 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait Background: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion: A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results

Acute organophosphorus poisoning complicated by acute coronary syndrome.

Science.gov (United States)

Pankaj, Madhu; Krishna, Kavita

2014-07-01

We report a case of 30 year old alcoholic male admitted with vomiting, drowsiness, limb weakness and fasciculations after alleged history of consumption of 30 ml of chlorpyriphos insecticide. He had low serum cholinesterase levels. With standard treatment for organophosphorus poisoning (OPP), he improved gradually until day 5, when he developed neck and limb weakness and respiratory distress. This intermediate syndrome was treated with oximes, atropine and artificial ventilation. During treatment, his ECG showed fresh changes of ST elevation. High CPK & CPK-MB levels, septal hypokinesia on 2D echo suggested acute coronary syndrome. Coronary angiography was postponed due to his bedridden and obtunded status. The patient finally recovered fully by day 15 and was discharged. Acute coronary syndrome is a rare occurrence in OP poisoning. The present case thus emphasises the need for careful electrocardiographic and enzymatic monitoring of all patients of organophosphorus poisoning to prevent potential cardiac complication which can prove fatal.

Plasma cytokine expression after lower-limb compression in rats

Directory of Open Access Journals (Sweden)

Mauricio Wanderley Moral Sgarbi

2015-02-01

Full Text Available OBJECTIVES: Muscle injury due to crushing (muscle compression injury is associated with systemic manifestations known as crush syndrome. A systemic inflammatory reaction may also be triggered by isolated muscle injury. The aim of this study was to investigate the plasma levels of interleukins (IL 1, 6 and 10 and tumor necrosis factor alpha (TNF-α, which are markers for possible systemic inflammatory reactions, after isolated muscle injury resulting from lower-limb compression in rats.METHODS: Male Wistar rats were subjected to 1 h of compression of their lower limbs by means of a rubber band. The plasma levels of IL 1, 6 and 10 and TNF-α were measured 1, 2 and 4 h after the rats were released from compression.RESULTS: The plasma levels of IL 10 decreased in relation to those of the other groups, with a statistically significant difference (p < 0.05. The method used did not detect the presence of IL 1, IL 6 or TNF-α.CONCLUSION: Our results demonstrated that the changes in plasma levels of IL 10 that were found may have been a sign of the presence of circulating interleukins in this model of lower-limb compression in rats.

Parental Assessment of Status of Congenital Upper Limb Differences: Analysis of the Pediatric Outcomes Data Collection Instrument.

Science.gov (United States)

Wall, Lindley B; Shen, Tony; Roberts, Summer; Goldfarb, Charles A

2016-03-01

To determine the range of the Pediatric Outcomes Collection Instrument (PODCI) scores for children with a wide variety of congenital upper limb differences and to examine the scoring effect of the patient's surgical history, family history, severity of involvement, and syndromic associations. We reviewed the PODCI scores for 109 patients, aged 2-18 years, treated for nontraumatic upper extremity conditions. Charts were reviewed for sex, age, extent of limb involvement, laterality, family history, surgical history, and syndrome association. All patients were classified based on the Oberg, Manske, Tonkin classification with general categories of malformation, deformation, or dysplasia. Of 109 patients, 80 (73%) had a malformation, 12 (11%) had a deformation, and 17 (16%) had a dysplasia. The cohort as a whole had a happiness PODCI score that was similar to the normal population, yet a lower (worse) PODCI score for upper extremity and global function. Patients with a dysplasia had a higher upper extremity function scores than those with malformations or deformations, but they had similar happiness and global function scores. Complete upper limb involvement and lower extremity involvement statistically lowered the PODCI score within our study cohort, whereas a positive family history and syndromic association increased PODCI scores. This study showed that there was a similar level of perceived happiness between children/adolescents with congenital upper extremity conditions compared with the normal pediatric population based on PODCI scores. In contrast, the perceived upper extremity and global function was significantly decreased in patients with congenital differences compared with normal individuals. This investigation also revealed that the extent of upper extremity involvement, lower extremity involvement, family history, and syndromic association may affect PODCI scores as independent variables and should be taken into consideration in studies of upper extremity

Evaluation of Frequency and Risk Factors of Soft Tissue Rheumatism of Upper Limbs in Diabetic Patients in Kerman in 2001

Directory of Open Access Journals (Sweden)

M.R. Shakibi

2003-10-01

Full Text Available Diabetes mellitus is a metabolic disorder that affect different systems in human. Wide range of musculoskeletal syndromes have been described in association with diabetes. To determine the prevalence of upper limb soft tissue rheumatism in diabetes patients. In a cross sectional study 300 diabetic patients was examined by COPCORD questionnaire. The examination was performed by internist and rheumatologist . Data was analyzed by logistic regression. 73.3% of patients were female. Average age of cases was 51.2±13.7 years and mean of duration of disease was 7±6.4 years. 152 cases (50.7% had soft tissue rheumatism in upper limbs. 66 cases had carpal tannel syndrome, 23 cases with Dupuytren’s disease, 23 cases with Flexortenosynovitis, 91 cases with shoulder periarthritis, 4 cases had limited joint mobility and 12 had Elbow Epicandititis. Logestic regression analysis showed that type 2 diabetes, weak control of blood sugur and duration of disease>5years were risk factors for incidence of soft tissue rheumatism in upper limbs. Results have showed the high prevalence of soft tissue rheumatism in diabetic patients.

Adjustments to amputation and an artificial limb in lower limb amputees

NARCIS (Netherlands)

Sinha, Richa; van den Heuvel, Wim J. A.; Arokiasamy, Perianayagam

Background: Positive adjustments to amputation and an artificial limb play important roles in the rehabilitation process. Objectives: To study the different facets of adjustments to amputation and an artificial limb in lower limb amputees and to assess the possible role of different background and

Functional Capacity in Adults With Cerebral Palsy: Lower Limb Muscle Strength Matters.

Science.gov (United States)

Gillett, Jarred G; Lichtwark, Glen A; Boyd, Roslyn N; Barber, Lee A

2018-05-01

To investigate the relation between lower limb muscle strength, passive muscle properties, and functional capacity outcomes in adults with cerebral palsy (CP). Cross-sectional study. Tertiary institution biomechanics laboratory. Adults with spastic-type CP (N=33; mean age, 25y; range, 15-51y; mean body mass, 70.15±21.35kg) who were either Gross Motor Function Classification System (GMFCS) level I (n=20) or level II (n=13). Not applicable. Six-minute walk test (6MWT) distance (m), lateral step-up (LSU) test performance (total repetitions), timed up-stairs (TUS) performance (s), maximum voluntary isometric strength of plantar flexors (PF) and dorsiflexors (DF) (Nm.kg -1 ), and passive ankle joint and muscle stiffness. Maximum isometric PF strength independently explained 61% of variance in 6MWT performance, 57% of variance in LSU test performance, and 50% of variance in TUS test performance. GMFCS level was significantly and independently related to all 3 functional capacity outcomes, and age was retained as a significant independent predictor of LSU and TUS test performance. Passive medial gastrocnemius muscle fascicle stiffness and ankle joint stiffness were not significantly related to functional capacity measures in any of the multiple regression models. Low isometric PF strength was the most important independent variable related to distance walked on the 6MWT, fewer repetitions on the LSU test, and slower TUS test performance. These findings suggest lower isometric muscle strength contributes to the decline in functional capacity in adults with CP. Copyright © 2018 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Stiffness and thickness of fascia do not explain chronic exertional compartment syndrome

DEFF Research Database (Denmark)

Dahl, Morten; Hansen, Philip; Stål, Per

2011-01-01

Chronic exertional compartment syndrome is diagnosed based on symptoms and elevated intramuscular pressure and often is treated with fasciotomy. However, what contributes to the increased intramuscular pressure remains unknown.......Chronic exertional compartment syndrome is diagnosed based on symptoms and elevated intramuscular pressure and often is treated with fasciotomy. However, what contributes to the increased intramuscular pressure remains unknown....

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

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Irene Berges-Raso

2017-09-01

Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

Evaluation of bone microstructure in CRPS-affected upper limbs by HR-pQCT.

Science.gov (United States)

Mussawy, Haider; Schmidt, Tobias; Rolvien, Tim; Rüther, Wolfgang; Amling, Michael

2017-01-01

Complex regional pain syndrome (CRPS) is a major complication after trauma, surgery, and/or immobilization of an extremity. The disease often starts with clinical signs of local inflammation and develops into a prolonged phase that is characterized by trophic changes and local osteoporosis and sometimes results in functional impairment of the affected limb. While the pathophysiology of CRPS remains poorly understood, increased local bone resorption plays an undisputed pivotal role. The aim of this retrospective clinical study was to assess the bone microstructure in patients with CRPS. Patients with CRPS type I of the upper limb whose affected and unaffected distal radii were analyzed by high-resolution peripheral quantitative computed tomography (HR-pQCT) were identified retrospectively. The osteology laboratory data and dual-energy X-ray absorptiometry (DXA) images of the left femoral neck and lumbar spine, which were obtained on the same day as HR-pQCT, were extracted from the medical records. Five patients were identified. The CRPS-affected upper limbs had significantly lower trabecular numbers and higher trabecular thicknesses than the unaffected upper limbs. However, the trabecular bone volume to total bone volume and cortical thickness values of the affected and unaffected sides were similar. Trabecular thickness tended to increase with time since disease diagnosis. CRPS associated with significant alterations in the bone microstructure of the affected upper limb that may amplify as the duration of disease increases.

Real-Time Vision-Based Stiffness Mapping †.

Science.gov (United States)

Faragasso, Angela; Bimbo, João; Stilli, Agostino; Wurdemann, Helge Arne; Althoefer, Kaspar; Asama, Hajime

2018-04-26

This paper presents new findings concerning a hand-held stiffness probe for the medical diagnosis of abnormalities during palpation of soft-tissue. Palpation is recognized by the medical community as an essential and low-cost method to detect and diagnose disease in soft-tissue. However, differences are often subtle and clinicians need to train for many years before they can conduct a reliable diagnosis. The probe presented here fills this gap providing a means to easily obtain stiffness values of soft tissue during a palpation procedure. Our stiffness sensor is equipped with a multi degree of freedom (DoF) Aurora magnetic tracker, allowing us to track and record the 3D position of the probe whilst examining a tissue area, and generate a 3D stiffness map in real-time. The stiffness probe was integrated in a robotic arm and tested in an artificial environment representing a good model of soft tissue organs; the results show that the sensor can accurately measure and map the stiffness of a silicon phantom embedded with areas of varying stiffness.

Real-Time Vision-Based Stiffness Mapping †

Directory of Open Access Journals (Sweden)

Angela Faragasso

2018-04-01

Full Text Available This paper presents new findings concerning a hand-held stiffness probe for the medical diagnosis of abnormalities during palpation of soft-tissue. Palpation is recognized by the medical community as an essential and low-cost method to detect and diagnose disease in soft-tissue. However, differences are often subtle and clinicians need to train for many years before they can conduct a reliable diagnosis. The probe presented here fills this gap providing a means to easily obtain stiffness values of soft tissue during a palpation procedure. Our stiffness sensor is equipped with a multi degree of freedom (DoF Aurora magnetic tracker, allowing us to track and record the 3D position of the probe whilst examining a tissue area, and generate a 3D stiffness map in real-time. The stiffness probe was integrated in a robotic arm and tested in an artificial environment representing a good model of soft tissue organs; the results show that the sensor can accurately measure and map the stiffness of a silicon phantom embedded with areas of varying stiffness.

Dynamic stiffness of suction caissons - vertical vibrations

Energy Technology Data Exchange (ETDEWEB)

Ibsen, Lars Bo; Liingaard, M.; Andersen, Lars

2006-12-15

The dynamic response of offshore wind turbines are affected by the properties of the foundation and the subsoil. The purpose of this report is to evaluate the dynamic soil-structure interaction of suction caissons for offshore wind turbines. The investigation is limited to a determination of the vertical dynamic stiffness of suction caissons. The soil surrounding the foundation is homogenous with linear viscoelastic properties. The dynamic stiffness of the suction caisson is expressed by dimensionless frequency-dependent dynamic stiffness coefficients corresponding to the vertical degree of freedom. The dynamic stiffness coefficients for the foundations are evaluated by means of a dynamic three-dimensional coupled Boundary Element/Finite Element model. Comparisons are made with known analytical and numerical solutions in order to evaluate the static and dynamic behaviour of the Boundary Element/Finite Element model. The vertical frequency dependent stiffness has been determined for different combinations of the skirt length, Poisson's ratio and the ratio between soil stiffness and skirt stiffness. Finally the dynamic behaviour at high frequencies is investigated. (au)

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Science.gov (United States)

Prontera, Paolo; Garelli, Emanuela; Isidori, Ilenia; Mencarelli, Amedea; Carando, Adriana; Silengo, Margherita Cirillo; Donti, Emilio

2011-11-01

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-mammary syndrome (LMS), and differs from these disorders mainly by the absence of cleft lip and/or palate. We report on a 39-year-old patient who was found to be heterozygous for a c.401G > T (p.Gly134Val) de novo mutation of TP63. This patient had the ADULT phenotype associated with cleft palate. Our findings, rather than extend the clinical spectrum of ADULT syndrome, suggest that cleft palate can no longer be considered an element for differential diagnosis for ADULT, EEC, and LMS. Our data, added to other reports on overlapping phenotypes, support the combining of these three phenotypes into a unique entity that we propose to call "ELA syndrome," which is an acronym of ectrodactyly-ectodermal dysplasia-cleft lip and palate, limb-mammary, and ADULT syndromes. Copyright © 2011 Wiley Periodicals, Inc.

Observer-Based Human Knee Stiffness Estimation.

Science.gov (United States)

Misgeld, Berno J E; Luken, Markus; Riener, Robert; Leonhardt, Steffen

2017-05-01

We consider the problem of stiffness estimation for the human knee joint during motion in the sagittal plane. The new stiffness estimator uses a nonlinear reduced-order biomechanical model and a body sensor network (BSN). The developed model is based on a two-dimensional knee kinematics approach to calculate the angle-dependent lever arms and the torques of the muscle-tendon-complex. To minimize errors in the knee stiffness estimation procedure that result from model uncertainties, a nonlinear observer is developed. The observer uses the electromyogram (EMG) of involved muscles as input signals and the segmental orientation as the output signal to correct the observer-internal states. Because of dominating model nonlinearities and nonsmoothness of the corresponding nonlinear functions, an unscented Kalman filter is designed to compute and update the observer feedback (Kalman) gain matrix. The observer-based stiffness estimation algorithm is subsequently evaluated in simulations and in a test bench, specifically designed to provide robotic movement support for the human knee joint. In silico and experimental validation underline the good performance of the knee stiffness estimation even in the cases of a knee stiffening due to antagonistic coactivation. We have shown the principle function of an observer-based approach to knee stiffness estimation that employs EMG signals and segmental orientation provided by our own IPANEMA BSN. The presented approach makes realtime, model-based estimation of knee stiffness with minimal instrumentation possible.

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

Science.gov (United States)

Tekin, M; Bodurtha, J N; Nance, W E; Pandya, A

2001-10-01

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Bartter syndrome associated with nephropathic cystinosis.

Science.gov (United States)

Osman, Nader M; Sanosi, Ali Al

2016-01-01

Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalaemia), increased blood pH (alkalosis) and normal to low blood pressure. There are three types of Bartter syndrome: neonatal, the classic type and Gitelman syndrome. Nephropathic cystinosis is an autosomal recessive disorder characterized by accumulation of free cystine in lysosomes due to disorder of lysosomal transport that can lead to end stage renal failure within 10 years and multiorgan impairment. We report a 5 year 9 month old child with Bartter syndrome associated with nephropathic cystinosis, hypothyroidism and rickets. Hitherto, only a handful of similar cases have been reported in the literature.

Optimization of a quasi-zero-stiffness isolator

International Nuclear Information System (INIS)

Carrella, A.; Brennan, M. J.; Waters, T. P.

2007-01-01

The frequency range over which a mount can isolate a mass from a vibrating base (or vice versa) is often limited by the mount stiffness required to support the weight of the mass. This compromise can be made more favourable by employing non-linear mounts with a softening spring characteristic such that small excursions about the static equilibrium position result in small dynamic spring forces and a correspondingly low natural frequency. This paper concerns the force-displacement characteristic of a so-called quasi-zero-stiffness (QZS) mechanism which is characterised by an appreciable static stiffness but very small (theoretically zero) dynamic stiffness. The mechanism studied comprises a vertical spring acting in parallel with two further springs which, when inclined at an appropriate angle to the vertical, produce a cancelling negative stiffness effect. Analysis of the system shows that a QZS characteristic can be obtained if the systems parameters (angle of inclination and ratio of spring stiffness) are opportunely chosen. By introducing the additional criterion that the displacement of the system be largest without exceeding a desired (low) value of stiffness an optimal set of parameter values is derived. Under sufficiently large displacements the stiffness of the QZS mechanism can eventually exceed that of the simple mass-spring system and criteria for this detrimental scenario to arise are presented

Tetra-amelia and splenogonadal fusion in Roberts syndrome

Energy Technology Data Exchange (ETDEWEB)

Ravel, T.J.L. de; Seftel, M.D.; Wright, C.A. [Univ. of the Witwatersrand, Johannesburg (South Africa)

1997-01-20

Roberts-SC phocomelia syndrome comprises limb deficiencies of variable severity, facial clefts, and other anomalies. Tetra-amelia may also be associated with facial clefts and similar anomalies. We report on a female infant with severe tetra-amelia, micrognathia, cleft palate, splenogonadal fusion, and premature centromere separation. We propose that this represents the severe expression of the Roberts-SC phocomelia syndrome. 18 refs., 6 figs.

Contrast-enhanced MR angiography in Leriche's syndrome

International Nuclear Information System (INIS)

Link, J.; Steffens, J.C.; Brossmann, J.; Heller, M.; Loose, R.

1998-01-01

Purpose: To determine the usefulness of contrast-enhanced MR angiography for the diagnosis of Leriche's syndrome. Material and methods: Leriche's syndrome was seen in 7 patients via DSA. In [dition, contrast-enhanced MR angiography was performed (T R 7.8 ms/T E 2.1 ms, flip angle 30 , slab thickness 116 mm, slice thickness 1.82 mm, 64 partitions, FOV 500x438 mm, matrix 224x512). Results: Diagnosis of Leriche's syndrome was possible by contrast-enhanced MR angiography in each case. Visualisation of the femoral arteries was not possible in two patients by intraarterial DSA, in three other patients there was an insufficient contrast in the femoral arteries with DSA. Contrast-enhanced MR angiography revealed good visualisation of the femoral arteries in these patients. In [dition, contrast-enhanced MR angiography allowed complete visualisation of the patent lower limb arteries. In intraarterial DSA visualisation of the lower limb arteries was achieved reached in only one patient, but was incomplete. Conclusion: Contrast-enhanced MR angiography yielded the correct diagnosis of Leriche's syndrome in all 7 patients. Contrast-enhanced MR angiography was superior to DSA in the assessment of the distal run-off vessels in five of seven patients. (orig.) [de

Limb anomalies

DEFF Research Database (Denmark)

Gurrieri, Fiorella; Kjær, Klaus Wilbrandt; Sangiorgi, Eugenio

2002-01-01

of limb development has been conserved for more than 300 millions years, with all the necessary adaptive modifications occurring throughout evolution, we also take into consideration the evolutionary aspects of limb development in terms of genetic repertoire, molecular pathways, and morphogenetic events....

Standardized Approach to Quantitatively Measure Residual Limb Skin Health in Individuals with Lower Limb Amputation.

Science.gov (United States)

Rink, Cameron L; Wernke, Matthew M; Powell, Heather M; Tornero, Mark; Gnyawali, Surya C; Schroeder, Ryan M; Kim, Jayne Y; Denune, Jeffrey A; Albury, Alexander W; Gordillo, Gayle M; Colvin, James M; Sen, Chandan K

2017-07-01

Objective: (1) Develop a standardized approach to quantitatively measure residual limb skin health. (2) Report reference residual limb skin health values in people with transtibial and transfemoral amputation. Approach: Residual limb health outcomes in individuals with transtibial ( n  = 5) and transfemoral ( n  = 5) amputation were compared to able-limb controls ( n  = 4) using noninvasive imaging (hyperspectral imaging and laser speckle flowmetry) and probe-based approaches (laser doppler flowmetry, transcutaneous oxygen, transepidermal water loss, surface electrical capacitance). Results: A standardized methodology that employs noninvasive imaging and probe-based approaches to measure residual limb skin health are described. Compared to able-limb controls, individuals with transtibial and transfemoral amputation have significantly lower transcutaneous oxygen tension, higher transepidermal water loss, and higher surface electrical capacitance in the residual limb. Innovation: Residual limb health as a critical component of prosthesis rehabilitation for individuals with lower limb amputation is understudied in part due to a lack of clinical measures. Here, we present a standardized approach to measure residual limb health in people with transtibial and transfemoral amputation. Conclusion: Technology advances in noninvasive imaging and probe-based measures are leveraged to develop a standardized approach to quantitatively measure residual limb health in individuals with lower limb loss. Compared to able-limb controls, resting residual limb physiology in people that have had transfemoral or transtibial amputation is characterized by lower transcutaneous oxygen tension and poorer skin barrier function.

A New Method for Treatment of Lymphedema of Limbs: Standardized Manual Massage with a New Device Linforoll in Conservative and Surgical Therapy Protocols.

Science.gov (United States)

Olszewski, Waldemar L; Zaleska, Marzanna; Michelin, Sandro

2016-12-01

Edema fluid in lymphedematous limbs should be evacuated to sites where it can be absorbed. It should be moved either to the hypogastrium or arm/scapular regions along tissue channels or implanted silicon channels or through lymphovenous anastomoses. For that purpose, the manual lymphatic drainage of limb is an effective method. Standardization of manual massage applied force and timing becomes necessary. A device with known pressing area and continuously showing the applied force while moving it toward the root of the limb is needed. Moreover, force could be adjusted to the stiffness of the massaged tissues that varies at different levels of the limb. Results from such a device would be repeatable and reproducible by others. In this study we present data on tissue fluid hydromechanics obtained from 20 patients with obstructive limb lymphedema during massage with a massaging roller called Linforoll. Linforoll is composed of a hand piece with roller and pressure sensor connected wireless to the computer displaying the pressure curve of the applied force. Electron microscopy studies for checking eventual tissue changes were done. Linforoll provides the possibilities of: 1) regulating the applied force according to the hydromechanic conditions of the massaged tissues; 2) standardization of massage repeatable in the same patient; 3) decrease of limb volume; 4) evident increase in tissue elasticity; 5) application as a driving force for fluid flow along the surgically implanted tubing and vessels running to the lymphovenous shunts.

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings

NARCIS (Netherlands)

Bhuiyan, Z. A.; Zilfalil, B. A.; Hennekam, R. C. M.

2006-01-01

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that

Internal models of limb dynamics and the encoding of limb state

Science.gov (United States)

Hwang, Eun Jung; Shadmehr, Reza

2005-09-01

Studies of reaching suggest that humans adapt to novel arm dynamics by building internal models that transform planned sensory states of the limb, e.g., desired limb position and its derivatives, into motor commands, e.g., joint torques. Earlier work modeled this computation via a population of basis elements and used system identification techniques to estimate the tuning properties of the bases from the patterns of generalization. Here we hypothesized that the neural representation of planned sensory states in the internal model might resemble the signals from the peripheral sensors. These sensors normally encode the limb's actual sensory state in which movement errors occurred. We developed a set of equations based on properties of muscle spindles that estimated spindle discharge as a function of the limb's state during reaching and drawing of circles. We then implemented a simulation of a two-link arm that learned to move in various force fields using these spindle-like bases. The system produced a pattern of adaptation and generalization that accounted for a wide range of previously reported behavioral results. In particular, the bases showed gain-field interactions between encoding of limb position and velocity, very similar to the gain fields inferred from behavioral studies. The poor sensitivity of the bases to limb acceleration predicted behavioral results that were confirmed by experiment. We suggest that the internal model of limb dynamics is computed by the brain with neurons that encode the state of the limb in a manner similar to that expected of muscle spindle afferents.

A Case with Cramp-Fasciculation Syndrome

Directory of Open Access Journals (Sweden)

Pinar Yalinay Dikmen

2014-12-01

Full Text Available Cramp-fasciculation syndrome is one of the peripheral nerve hyperexcitability disorders and presents muscle aching, cramps, stiffness and exercise intolerance. Fasciculation and cramps can be seen both in healthy individuals and in those with fatal diseases, such as Amyotrophic Lateral Sclerosis. We present a 27-year-old male patient, professional soccer player with fasciculations and cramps in  bilateral gastrocnemius-soleus complex. The patient complained about having to stop playing soccer because of muscle cramps and twitches in both calves, which had started 3 years earlier. After completing all laboratory and electrophysiological examinations, the patient was diagnosed as cramp-fasciculation syndrome. The aim of this paper was to present a rare case of cramp-fasiculation syndrome and discuss if the syndrome is benign or pioneer of a severe pathological process.

Type 1 diabetes in a patient with Ellis-van Creveld syndrome

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Carla Graziadio

Full Text Available CONTEXT: Ellis-van Creveld (EVC syndrome is a rare autosomal recessive disease characterized by disproportionate short stature, narrow thorax, postaxial polydactyly, nail and tooth abnormalities and congenital heart disease. CASE REPORT: The patient was a 22-year-old Caucasian man, the third child of consanguineous parents. He received the diagnosis of insulin-dependent diabetes mellitus (DM at 16 years of age, and around one year later, he underwent surgery to correct a partial atrioventricular septal defect. Upon physical examination, at 22 years of age, he presented stature of 145.5 cm (P3, weight of 49 kg (P3, head circumference of 54 cm (P2-50, high palate, absence of one of the lower lateral incisor teeth, narrow shoulders, narrowing of the upper thorax, scoliosis, rhizomelic shortening of the upper limbs, brachydactyly, postaxial polydactyly and clinodactyly of the second and third fingers. The lower limbs showed rhizomelic shortening with significant genu valgum (knock-knee deformity, small feet with postaxial polydactyly, syndactyly between the second and third toes and hallux valgus. Multiple melanocytic nevi were evident on the face, thorax and limbs. At that time, he was using neutral protamine Hagedorn (NPH insulin, with poorly controlled DM. The clinical findings presented led to the diagnosis of EVC syndrome. Only one case of this syndrome has been described with DM so far. Attention is drawn to the fact that the genes associated with this syndrome are located close to those of the Wolfram syndrome, a condition that leads to early-onset diabetes.

Constitutive Modelling of Resins in the Stiffness Domain

Science.gov (United States)

Klasztorny, M.

2004-09-01

An analytic method for inverting the constitutive compliance equations of viscoelasticity for resins is developed. These equations describe the HWKK/H rheological model, which makes it possible to simulate, with a good accuracy, short-, medium- and long-term viscoelastic processes in epoxy and polyester resins. These processes are of first-rank reversible isothermal type. The time histories of deviatoric stresses are simulated with three independent strain history functions of fractional and normal exponential types. The stiffness equations are described by two elastic and six viscoelastic constants having a clear physic meaning (three long-term relaxation coefficients and three relaxation times). The time histories of axiatoric stresses are simulated as perfectly elastic. The inversion method utilizes approximate constitutive stiffness equations of viscoelasticity for the HWKK/H model. The constitutive compliance equations for the model are a basis for determining the exact complex shear stiffness, whereas the approximate constitutive stiffness equations are used for determining the approximate complex shear stiffness. The viscoelastic constants in the stiffness domain are derived by equating the exact and approximate complex shear stiffnesses. The viscoelastic constants are obtained for Epidian 53 epoxy and Polimal 109 polyester resins. The accuracy of the approximate constitutive stiffness equations are assessed by comparing the approximate and exact complex shear stiffnesses. The constitutive stiffness equations for the HWKK/H model are presented in uncoupled (shear/bulk) and coupled forms. Formulae for converting the constants of shear viscoelasticity into the constants of coupled viscoelasticity are given as well.

Genetics Home Reference: Duane-radial ray syndrome

Science.gov (United States)

... it appears to be important for the normal development of the eyes, heart, and limbs. Mutations in the SALL4 gene prevent cells from ... Additional Information & Resources MedlinePlus (3 links) Encyclopedia: ... Human Genome Research Institute: Duane Syndrome Educational Resources (5 ...

The stiffness change and the increase in the ultimate capacity for a stiff pile resulting from a cyclic loading

DEFF Research Database (Denmark)

Lada, Aleksandra; Ibsen, Lars Bo; Nicolai, Giulio

In the paper the experimental results of small-scale tests on a stiff monopile are presented to outline the change in stiffness during the cyclic loading and the change in the ultimate pile capacity. The results confirm the increase of stiffness and the increase in bearing capacity resulting from...

[Systemic and local stiffness of the arteries in young patients with arterial hypertension].

Science.gov (United States)

Chernova, I M; Zairova, A R; Luk'ianov, M M; Serdiuk, S E; Boĭtsov, S A

2014-01-01

The aim of the work was to study characteristics of systemic and local arterial stiffness in young patients with arterial hypertension (AH) suffering this condition in the childhood or adulthood and to relate them to risk factors of cardiovascular complications. Materials and methods. 54 patients aged 18-35 (mean 25.3 +/- 3.4) years with AH. 37 of them had AH since 18 year and 27 ones starting from the childhood or adulthood Control group included 26 healthy volunteers aged 25.8 +/- 3.7 year. The carotid-femoral pulse wave propagation rate (PWPR) was measured by applanation tonometry with a SphygmoCor apparatus. Parameters of carotid stiffness of CCA were studied by the echo-tracking method using Aloka ProSound a7 device. Results. Patients with AH and without it in the childhood or adulthood showed higher PWPR values than controls (7.1 +/- 1.2 and 7.5 +/- 1.4 vs. 6.3 +/- 1.0 m/s respectively) Ep and AC values were higher in patients who did not have AH in the childhood or adulthood: right Ep 89 +/- 24.4 and 68.7 +/- 18.4 kPa, AC 0.9 +/- 0.2 and 1.1 +/- 0.1 mm2/kPa respectively; left Ep 86.1 +/- 20.3 and 71/4 +/- 16 kP AC 0.9 +/- 0.2 and 1.1 +/- 0.1 mm2/kPA (p < 0.05). In the patients with AH since the childhood or adulthood with concomitant metabolic syndrome (MS) the PWPR values and carotid artery stiffness were higher than in the absence of MS (p < 0.05). Young patients with AH showed carotid-femoral PWPR compared with control regardless of AH in the childhood or adulthood Parameters of local carotid stiffness were increased only in patients having no AH in the childhood or adulthood Patients with AH since the childhood or adulthood with concomitant MS had higher carotid stiffness and carotid-femoral PWPR than in the absence of MS

Work-related upper limb “overuse” syndromes

DEFF Research Database (Denmark)

Jepsen, Jørgen Riis

2016-01-01

to abnormalities in the nervous system or muscles. The general opinion gradually changed and a dysfunction of the central nervous system, a “neurosis” was assumed, because no underlying lesion of the nervous system could be identified and many patients appeared to be mentally ill. This narrative review discusses...... the symptoms and findings in the physical examination reported in the first historical descriptions and interpretations at that time. There is evidence for an involvement of the peripheral nerves in the pathogenesis of these syndromes although this was not demonstrated by systematical neurological examinations...

Brown-Vialetto-Van Laere syndrome

Directory of Open Access Journals (Sweden)

Sathasivam Sivakumar

2008-04-01

Full Text Available Abstract The Brown-Vialetto-Van Laere syndrome (BVVL is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding, limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination are done to exclude other causes or to confirm the clinical findings. The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras motor neuron disease. Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. However, the mainstays of management are supportive and symptomatic treatment, in particular assisted ventilation and maintenance of nutrition via gastrostomy. The clinical course of BVVL is variable and includes gradual deterioration (almost half of cases, gradual deterioration with stable periods in between (a third of cases and deterioration with abrupt periods of worsening (just under a fifth of cases

Tourette syndrome, growth retardation, and platyspondyly: an entity?

NARCIS (Netherlands)

Scheper, Frederike Y.; Hennekam, Raoul C. M.

2002-01-01

A 14-year-old male is described with Tourette syndrome, platyspondyly, a marked delay in bone age, growth retardation that is more expressed in the limbs and talipes equinovarus. This appears to be a new entity

Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome

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N. A. Kovalenko-Klychkova

2013-01-01

Full Text Available Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.

Analytical study of a quasi-zero stiffness coupling using a torsion magnetic spring with negative stiffness

Science.gov (United States)

Zheng, Yisheng; Zhang, Xinong; Luo, Yajun; Zhang, Yahong; Xie, Shilin

2018-02-01

By now, many translation quasi-zero stiffness (QZS) mechanisms have been proposed to overcome the restriction between the isolation frequency range and the load bearing capacity of linear isolators. The couplings of rotor systems undertake the functions of transmitting static driving torque and isolating disturbing torque simultaneously, which creates the demand of torsion QZS mechanisms. Hence a QZS coupling is presented in this paper, where a torsion magnetic spring (TMS) composed of two coaxial ring magnet arrangements in repulsive configuration is employed to produce negative torsion stiffness to counteract the positive stiffness of a rubber spring. In this paper, the expressions of magnetic torque and stiffness are given firstly and verified by finite element simulations; and the effect of geometric parameters of the TMS on its stiffness characteristic is analyzed in detail, which contributes to the optimal design of the TMS. Then dynamic analysis of the QZS coupling is performed and the analytical expression of the torque transmissibility is achieved based on the Harmonic Balance Method. Finally, simulation of the torque transmissibility is carried out to reveal how geometric parameters of the TMS affect the isolation performance.

Postnatal ontogeny of limb proportions and functional indices in the subterranean rodent Ctenomys talarum (Rodentia: Ctenomyidae).

Science.gov (United States)

Echeverría, Alejandra Isabel; Becerra, Federico; Vassallo, Aldo Iván

2014-08-01

Burrow construction in the subterranean Ctenomys talarum (Rodentia: Ctenomyidae) primarily occurs by scratch-digging. In this study, we compared the limbs of an ontogenetic series of C. talarum to identify variation in bony elements related to fossorial habits using a morphometrical and biomechanical approach. Diameters and functional lengths of long bones were measured and 10 functional indices were constructed. We found that limb proportions of C. talarum undergo significant changes throughout postnatal ontogeny, and no significant differences between sexes were observed. Five of six forelimb indices and two of four hindlimb indices showed differences between ages. According to discriminant analysis, the indices that contributed most to discrimination among age groups were robustness of the humerus and ulna, relative epicondylar width, crural and brachial indices, and index of fossorial ability (IFA). Particularly, pups could be differentiated from juveniles and adults by more robust humeri and ulnae, wider epicondyles, longer middle limb elements, and a proportionally shorter olecranon. Greater robustness indicated a possible compensation for lower bone stiffness while wider epicondyles may be associated to improved effective forces in those muscles that originate onto them, compensating the lower muscular development. The gradual increase in the IFA suggested a gradual enhancement in the scratch-digging performance due to an improvement in the mechanical advantage of forearm extensors. Middle limb indices were higher in pups than in juveniles-adults, reflecting relatively more gracile limbs in their middle segments, which is in accordance with their incipient fossorial ability. In sum, our results show that in C. talarum some scratch-digging adaptations are already present during early postnatal ontogeny, which suggests that they are prenatally shaped, and other traits develop progressively. The role of early digging behavior as a factor influencing on

Stiffness of Railway Soil-Steel Structures

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Machelski Czesław

2015-12-01

Full Text Available The considerable influence of the soil backfill properties and that of the method of compacting it on the stiffness of soil-steel structures is characteristic of the latter. The above factors (exhibiting randomness become apparent in shell deformation measurements conducted during construction and proof test loading. A definition of soil-shell structure stiffness, calculated on the basis of shell deflection under the service load, is proposed in the paper. It is demonstrated that the stiffness is the inverse of the deflection influence function used in structural mechanics. The moving load methodology is shown to be useful for testing, since it makes it possible to map the shell deflection influence line also in the case of group loads (concentrated forces, as in bridges. The analyzed cases show that the shell’s span, geometry (static scheme and the height of earth fill influence the stiffness of the structure. The soil-steel structure’s characteristic parameter in the form of stiffness k is more suitable for assessing the quality of construction works than the proposed in code geometric index ω applied to beam structures. As shown in the given examples, parameter k is more effective than stiffness parameter λ used to estimate the deformation of soil-steel structures under construction. Although the examples concern railway structures, the methodology proposed in the paper is suitable also for road bridges.

Stiffness of Railway Soil-Steel Structures

Science.gov (United States)

Machelski, Czesław

2015-12-01

The considerable influence of the soil backfill properties and that of the method of compacting it on the stiffness of soil-steel structures is characteristic of the latter. The above factors (exhibiting randomness) become apparent in shell deformation measurements conducted during construction and proof test loading. A definition of soil-shell structure stiffness, calculated on the basis of shell deflection under the service load, is proposed in the paper. It is demonstrated that the stiffness is the inverse of the deflection influence function used in structural mechanics. The moving load methodology is shown to be useful for testing, since it makes it possible to map the shell deflection influence line also in the case of group loads (concentrated forces), as in bridges. The analyzed cases show that the shell's span, geometry (static scheme) and the height of earth fill influence the stiffness of the structure. The soil-steel structure's characteristic parameter in the form of stiffness k is more suitable for assessing the quality of construction works than the proposed in code geometric index ω applied to beam structures. As shown in the given examples, parameter k is more effective than stiffness parameter λ used to estimate the deformation of soil-steel structures under construction. Although the examples concern railway structures, the methodology proposed in the paper is suitable also for road bridges.

[Acute pancreatitis and afferent loop syndrome. Case report].

Science.gov (United States)

Barajas-Fregoso, Elpidio Manuel; Romero-Hernández, Teodoro; Macías-Amezcua, Michel Dassaejv

2013-01-01

The afferent syndrome loop is a mechanic obstruction of the afferent limb before a Billroth II or Roux-Y reconstruction, secondary in most of case to distal or subtotal gastrectomy. Clinical case: Male 76 years old, with antecedent of cholecystectomy, gastric adenocarcinoma six years ago, with subtotal gastrectomy and Roux-Y reconstruction. Beginning a several abdominal pain, nausea and vomiting, abdominal distension, without peritoneal irritation sings. Amylase 1246 U/L, lipase 3381 U/L. Computed Tomography with thickness wall and dilatation of afferent loop, pancreas with diffuse enlargement diagnostic of acute pancreatitis secondary an afferent loop syndrome. The afferent loop syndrome is presented in 0.3%-1% in all cases with Billroth II reconstruction, with a mortality of up to 57%, the obstruction lead accumulation of bile, pancreatic and intestinal secretions, increasing the pressure and resulting in afferent limb, bile conduct and Wirsung conduct dilatation, triggering an inflammatory response that culminates in pancreatic inflammation. The severity of the presentation is related to the degree and duration of the blockage.

Systemic Administration of Carbon Monoxide-Releasing Molecule-3 Protects the Skeletal Muscle in Porcine Model of Compartment Syndrome.

Science.gov (United States)

Bihari, Aurelia; Cepinskas, Gediminas; Sanders, David; Lawendy, Abdel-Rahman

2018-05-01

Acute limb compartment syndrome, a complication of musculoskeletal trauma, results in muscle necrosis and cell death. Carbon monoxide, liberated from the carbon monoxide-releasing molecule-3, has been shown protective in a rat model of compartment syndrome. The purpose of this study was to test the effect of carbon monoxide-releasing molecule-3 in a preclinical large animal model of compartment syndrome, with the ultimate goal of developing a pharmacologic adjunct treatment for compartment syndrome. Animal research study. Basic research laboratory in a hospital setting. Male Yorkshire-Landrace pigs (50-60 kg). Pigs underwent 6 hours of intracompartmental pressure elevation by infusing fluid into the anterior compartment of the right hind limb. Carbon monoxide-releasing molecule-3 was administered systemically (2 mg/kg, IV) at fasciotomy, followed by 3-hour reperfusion. Muscle perfusion, inflammation, injury, and apoptosis were assessed in the skeletal muscle. Systemic leukocyte activation was assessed during compartment syndrome and reperfusion. Elevation of hind limb intracompartmental pressure resulted in significant microvascular perfusion deficits (44% ± 1% continuously perfused capillaries in compartment syndrome vs 76% ± 4% in sham; p molecule-3 at fasciotomy increased the number of continuously perfused capillaries (68% ± 3%; p molecule-3 at fasciotomy offered protection against compartment syndrome-induced microvascular perfusion deficit, tissue injury, and systemic leukocyte activation. The data suggest the potential therapeutic application of carbon monoxide-releasing molecule-3 to patients at risk of developing compartment syndrome.

Compartment syndrome in a labrador retriever

International Nuclear Information System (INIS)

Williams, J.; Bailey, M.Q.; Schertel, E.R.; Valentine, A.

1994-01-01

Compartment syndrome is an elevation of interstitial pressure in a closed osseofascial compartment that results in microvascular compromise. This report documents a clinical syndrome in the crus of a fourteen-month-old intact male Labrador Retriever which was consistent with trauma-induced compartment syndrome. A six month history of recurring trauma or complications resulted in the need for referral. Survey radiography and ultrasonography aided in the diagnosis, but the definitive answer was provided by femoral angiography. The patient was successfully treated and was discharged with normal limb function. One year later, there were no complications observed. Compartment syndrome is not uncommon in humans, and is routinely considered in certain blunt and most penetrating traumas. However, few reports of this complication in animals are found

Ellis-van Creveld syndrome with facial hemiatrophy

Directory of Open Access Journals (Sweden)

Bhat Yasmeen

2010-01-01

Full Text Available Ellis-van Creveld (EVC syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

Single motor–variable stiffness actuator using bistable switching mechanisms for independent motion and stiffness control

NARCIS (Netherlands)

Groothuis, Stefan; Carloni, Raffaella; Stramigioli, Stefano

This paper presents a proof of concept of a variable stiffness actuator (VSA) that uses only one (high power) input motor. In general, VSAs use two (high power) motors to be able to control both the output position and the output stiffness, which possibly results in a heavy, and bulky system. In

Kearns-Sayre syndrome

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Kavita R Bhatnagar

2014-01-01

Full Text Available Kearns-Sayre syndrome (KSS is a rare neuromuscular disorder. We report a case of a 14-year-old boy diagnosed and treated as myasthenia gravis for (4 years who was eventually diagnosed with KSS. He reported to us 3 years after initial presentation of mild drooping of eyelids with increased severity of ptosis, bilateral external ophthalmoplegia, and atypical retinitis pigmentosa. On multispecialty consultation, he was found to have right bundle branch block, wasting and weakness of limb muscles, and hearing loss. Sartorius muscle biopsy revealed ragged red fibres on trichrome stain. All these findings confirmed the diagnosis of Kearns-Sayre Syndrome (KSS. The take home message is to have a high index of suspicion for KSS when encountering cases of musculoskeletal disorders in subjects below 20 years of age in view of high morbidity and mortality associated with this syndrome.

Big bang nucleosynthesis with a stiff fluid

International Nuclear Information System (INIS)

Dutta, Sourish; Scherrer, Robert J.

2010-01-01

Models that lead to a cosmological stiff fluid component, with a density ρ S that scales as a -6 , where a is the scale factor, have been proposed recently in a variety of contexts. We calculate numerically the effect of such a stiff fluid on the primordial element abundances. Because the stiff fluid energy density decreases with the scale factor more rapidly than radiation, it produces a relatively larger change in the primordial helium-4 abundance than in the other element abundances, relative to the changes produced by an additional radiation component. We show that the helium-4 abundance varies linearly with the density of the stiff fluid at a fixed fiducial temperature. Taking ρ S10 and ρ R10 to be the stiff fluid energy density and the standard density in relativistic particles, respectively, at T=10 MeV, we find that the change in the primordial helium abundance is well-fit by ΔY p =0.00024(ρ S10 /ρ R10 ). The changes in the helium-4 abundance produced by additional radiation or by a stiff fluid are identical when these two components have equal density at a 'pivot temperature', T * , where we find T * =0.55 MeV. Current estimates of the primordial 4 He abundance give the constraint on a stiff fluid energy density of ρ S10 /ρ R10 <30.

Direct measurement of the intrinsic ankle stiffness during standing.

Science.gov (United States)

Vlutters, M; Boonstra, T A; Schouten, A C; van der Kooij, H

2015-05-01

Ankle stiffness contributes to standing balance, counteracting the destabilizing effect of gravity. The ankle stiffness together with the compliance between the foot and the support surface make up the ankle-foot stiffness, which is relevant to quiet standing. The contribution of the intrinsic ankle-foot stiffness to balance, and the ankle-foot stiffness amplitude dependency remain a topic of debate in the literature. We therefore developed an experimental protocol to directly measure the bilateral intrinsic ankle-foot stiffness during standing balance, and determine its amplitude dependency. By applying fast (40 ms) ramp-and-hold support surface rotations (0.005-0.08 rad) during standing, reflexive contributions could be excluded, and the amplitude dependency of the intrinsic ankle-foot stiffness was investigated. Results showed that reflexive activity could not have biased the torque used for estimating the intrinsic stiffness. Furthermore, subjects required less recovery action to restore balance after bilateral rotations in opposite directions compared to rotations in the same direction. The intrinsic ankle-foot stiffness appears insufficient to ensure balance, ranging from 0.93±0.09 to 0.44±0.06 (normalized to critical stiffness 'mgh'). This implies that changes in muscle activation are required to maintain balance. The non-linear stiffness decrease with increasing rotation amplitude supports the previous published research. With the proposed method reflexive effects can be ruled out from the measured torque without any model assumptions, allowing direct estimation of intrinsic stiffness during standing. Copyright © 2015 Elsevier Ltd. All rights reserved.

Characterization of symptoms and edema distribution in premenstrual syndrome

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Tacani PM

2015-03-01

Full Text Available Pascale Mutti Tacani,1 Danielle de Oliveira Ribeiro,1 Barbara Evelyn Barros Guimarães,1 Aline Fernanda Perez Machado,2 Rogério Eduardo Tacani1,2 1Physical Therapy Department, São Camilo University Center, 2Physical Therapy Department, São Paulo City University (UNICID, São Paulo, Brazil Background: Premenstrual syndrome is a group of symptoms linked to the menstrual cycle, and edema is among these symptoms. Physiotherapy is often sought by many patients for the treatment of edema; however, for an adequate prescription of physiotherapeutic procedures, the distribution of edema throughout the body has yet to be characterized. Objective: To determine the most frequent symptoms and body regions that present with edema in women during the premenstrual period.Subjects and methods: Sixty women with a mean age of 24.6±4.7 years were evaluated during their premenstrual (between days 21 and 28 and menstrual period (between days 1 and 3, and the collected data included body mass, height, biotype (body-fat distribution, face, breast, limb-circumference measurements, and limb-volume estimate, and an adapted version of the Premenstrual Symptoms Screening Tool was used. Statistical analysis was performed using Student’s t-test and the test for equality of two proportions (P≤0.05.Results: Premenstrual syndrome was identified in 91.7% of the women, and the most frequent symptoms were irritability (73.33% and physical symptoms, including swelling (65%, and anxiety (58.3%. Edema was detected in the following areas: facial, epigastric, mammary, umbilical, and pubic, the mid-third of the arms, distal forearm, in both thighs and in the mid-third of the legs determined by circumference measurements, and in both upper and lower limbs, according to the estimated volume.Conclusion: In this study population, the most frequent symptoms were irritability, physical symptoms, and anxiety, with distribution of edema in the face, breast, abdomen, pubic area, distal

The role of MSCT angiography in early detection of lower limb arterial lesions in patients with antiphospholipid syndrome.

Science.gov (United States)

Saponjski, Jovica; Stojanovich, Ljudmila; Petrovic, Jelena; Saponjski, Dusan

2017-04-01

Antiphospholipid syndrome (APS) is an autoimmune disease which is characterized by arterial and venous thromboses, fetal loss, and the presence of antiphospholipid antibodies in the serum. It is characterized by accelerated atherosclerosis. Increased tendency towards thrombosis leads to the occurrence of various vascular events. The objective of our study was to determine if there are subclinical changes on lower limb arteries in APS patients and what the best diagnostic choice for their establishment is. In this study, we analyzed 50 patients with primary antiphospholipid syndrome (PAPS) and 50 patients, who have secondary antiphospholipid syndrome (SAPS). The results were compared to 50 controls. The groups were comparable with respect to age, gender, and traditional risk factors except for the lipid status, since controls had significantly higher levels of cholesterol and triglycerides. Study was conducted on 64-multi-slice computed tomography (64-MSCT), where we analyzed quantitative and morphological characteristics of blood vessel-detected lesions. Patients from the control group had statistically very significant elevated cholesterol and triglyceride levels in regard to the patients with SAPS and PAPS (p < 0.001 and p < 0.05). Analyzing percentage of diameter stenosis, we have established that lesions from group with 0-30% diameter stenosis (DS) in patients with PAPS (n = 47) and SAPS (n = 39) are more common than that in control group (n = 3, p < 0.001). The incidence of lesions higher than 70% DS in control group (n = 74) was statistically significant than that in patients with SAPS (n = 74, p < 0.05), while very statistically significant than that in patients with PAPS (n = 48, p < 0.001). Analyzing the qualitative characteristics of plaques, we have established significant higher frequency of soft tissue (n = 32) and mixed lesions (n = 36) in patients with PAPS than the calcified one (n = 7, p < 0.001). Our study showed that

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

OpenAIRE

Abdalla, E. M.; Morsy, H.

2011-01-01

Bartsocas-Papas syndrome (BPS) is an autosomal recessive syndrome with severe craniofacial, limb, and genital abnormalities. As of 2011, 24 published cases and families were registered in the Orphanet Report Series. Compared to other disorders characterized by pterygia, the condition is usually more severe and often lethal: most affected patients die in utero or shortly after birth. We report the first Egyptian family with Bartsocas-Papas syndrome comprising three cases; our proband who was ...

High risk for major nonlimb anomalies associated with lower-limb deficiency: a population-based study.

Science.gov (United States)

Syvänen, Johanna; Nietosvaara, Yrjänä; Ritvanen, Annukka; Koskimies, Eeva; Kauko, Tommi; Helenius, Ilkka

2014-11-19

The aims of this study were to determine the prevalence of congenital lower-limb reduction defects and associated mortality, to evaluate lower-limb deficiencies by type of reduction, and to identify patterns of associated anomalies. We conducted a population-based study with use of data from the Finnish Register of Congenital Malformations and Care Register for Health Care. All cases of lower-limb deficiency among live births, stillbirths, spontaneous abortions, and terminations of pregnancy due to fetal anomalies from 1993 to 2008 were included. We analyzed medical records and classified lower-limb reduction defects. Associated major anomalies were recorded, and perinatal mortality and infant mortality were calculated. Two hundred and sixty-six cases with lower-limb deficiency were identified, with a total prevalence of 2.8 per 10,000 births, a birth prevalence of 2.2 per 10,000 births, and a live-birth prevalence of 2.1 per 10,000 live births. Terminal transverse limb reductions accounted for 44.7% of the cases; longitudinal reductions, 22.9%; intercalary reductions, 7.9%; multiple reductions, 8.3%; and split-foot malformations, 4.5%. In addition to lower-limb deficiency, 47.7% of the cases had other major anomalies; anomalies of internal organs were noted in 26.3% of the cases, anomalies of the axial skeleton in 13.5% of cases, and central nervous system anomalies in 12.8%. Upper-limb reductions were observed in 32.0% of the cases. The relative risk (RR) for associated major anomalies was 12.54 (95% confidence interval [CI], 11.06 to 14.23) compared with the general figures for major congenital anomalies in Finland. The RR for associated anomalies was higher (1.75; 95% CI, 1.20 to 2.53) for longitudinal preaxial lower-limb deficiencies than for the other types of lower-limb reductions. Perinatal mortality was seventy-eight per 1000 births. All infant deaths were associated with chromosomal abnormalities, other known syndromes, or additional congenital

Observed variations of monopile foundation stiffness

DEFF Research Database (Denmark)

Kallehave, Dan; Thilsted, C.L.; Diaz, Alberto Troya

2015-01-01

full-scale measurements obtained from one offshore wind turbine structure located within Horns Reef II offshore wind farm. Data are presented for a 2.5 years period and covers normal operating conditions and one larger storm event. A reduction of the pile-soil stiffness was observed during the storm...... events, followed by a complete regain to a pre-storm level when the storm subsided. In additional, no long term variations of the pile-soil stiffness was observed. The wind turbine is located in dense to very dense sand deposits.......The soil-structure stiffness of monopile foundations for offshore wind turbines has a high impact on the fatigue loading during normal operating conditions. Thus, a robust design must consider the evolution of pile-soil stiffness over the lifetime of the wind farm. This paper present and discuss...

Stiff Hands

Science.gov (United States)

... All Topics A-Z Videos Infographics Symptom Picker Anatomy Bones Joints Muscles Nerves Vessels Tendons About Hand Surgery What is a Hand Surgeon? What is a Hand Therapist? Media Find a Hand Surgeon Home Anatomy Stiff Hands Email to a friend * required fields ...

A Stewart isolator with high-static-low-dynamic stiffness struts based on negative stiffness magnetic springs

Science.gov (United States)

Zheng, Yisheng; Li, Qingpin; Yan, Bo; Luo, Yajun; Zhang, Xinong

2018-05-01

In order to improve the isolation performance of passive Stewart platforms, the negative stiffness magnetic spring (NSMS) is employed to construct high static low dynamic stiffness (HSLDS) struts. With the NSMS, the resonance frequencies of the platform can be reduced effectively without deteriorating its load bearing capacity. The model of the Stewart isolation platform with HSLDS struts is presented and the stiffness characteristic of its struts is studied firstly. Then the nonlinear dynamic model of the platform including both geometry nonlinearity and stiffness nonlinearity is established; and its simplified dynamic model is derived under the condition of small vibration. The effect of nonlinearity on the isolation performance is also evaluated. Finally, a prototype is built and the isolation performance is tested. Both simulated and experimental results demonstrate that, by using the NSMS, the resonance frequencies of the Stewart isolator are reduced and the isolation performance in all six directions is improved: the isolation frequency band is increased and extended to a lower-frequency level.

Magnetic resonance imaging in exertional compartment syndrome of the forearm: Case-based pictorial review and approach to management

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Bishum Rattan

2018-04-01

Full Text Available Exercise-related limb pain poses a management dilemma to the clinician. The term ‘chronic exertional compartment syndrome’ (CECS (previously known as ‘anterior tibial syndrome’ refers to a condition characterised by exercise-induced pain in one or more muscle groups and is more commonly seen in the lower limbs. Much less has been reported about the upper limbs where the muscular compartments are variably noted to be involved. A high index of clinical suspicion should therefore be maintained to avoid missing the diagnosis. Although commonly noted in athletes, CECS can occur in any age group with any level of exercise activity. In addition, there is no age predilection and the syndrome may be bilateral. The exact prevalence is not known as many athletes modify their training methods, thus delaying or avoiding medical assistance and imaging. The pathophysiology of compartment syndrome is complex. In this review of the syndrome, we describe the cycle of intracellular events leading to CECS and the eventual destruction of muscle. There is considerable overlap with the many possible causes of limb pain. Even the most experienced clinicians experience some difficulty in making this diagnosis of CECS, but with increasing awareness of this entity and availability of good-quality magnetic resonance imaging to confirm the suspicion, upper limb CECS is being more commonly diagnosed and patients more timeously managed.

Down syndrome: a risk factor for mycotic aneurysm?

LENUS (Irish Health Repository)

Naughton, Peter A

2011-03-29

Down syndrome, or trisomy 21, has a characteristic constellation of clinical findings, including various congenital heart defects. We report a case of an adult male with Down syndrome who presented with a 3-week history of lower limb pain and swelling, attributed to cellulitis. Clinical and angiographic evaluation identified a below-knee mycotic pseudoaneurysm secondary to infective endocarditis. Surgical aneurysmal repair and revascularization were performed. Various management options are outlined in this report.

Jellyfish Envenomation Resulting In Vascular Insufficiency And Neurogenic Injury of Upper Limb

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Choong CYL

2015-11-01

Full Text Available Following a week after a jellyfish sting, a young man presented with regional cyanosis and threat of distal gangrene secondary to vascular spasm in the forearm. The patient also suffered from transient paresis and numbness of the affected upper limb. Contrasted imaging revealed unopacified vessels in the distal forearm and worsening swelling warranted emergency surgical fasciotomy for impending compartment syndrome. This case highlights the occurrence of jellyfish envenomation and the need for early treatment.

A novel energy-efficient rotational variable stiffness actuator

NARCIS (Netherlands)

Rao, S.; Carloni, Raffaella; Stramigioli, Stefano

This paper presents the working principle, the design and realization of a novel rotational variable stiffness actuator, whose stiffness can be varied independently of its output angular position. This actuator is energy-efficient, meaning that the stiffness of the actuator can be varied by keeping

A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

Science.gov (United States)

Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

2008-10-24

Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

Stiffness and the automatic selection of ODE codes

International Nuclear Information System (INIS)

Shampine, L.F.

1984-01-01

The author describes the basic ideas behind the most popular methods for the numerical solution of ordinary differential equations (ODEs). He takes up the qualitative behavior of solutions of ODEs and its relation ot the propagation of numerical error. Codes for ODEs are intended either for stiff problems or for non-stiff problems. The difference is explained. Users of codes do not have the information needed to recognize stiffness. A code, DEASY, which automatically recognizes stiffness and selects a suitable method is described

Nipbl and mediator cooperatively regulate gene expression to control limb development.

Directory of Open Access Journals (Sweden)

Akihiko Muto

2014-09-01

Full Text Available Haploinsufficiency for Nipbl, a cohesin loading protein, causes Cornelia de Lange Syndrome (CdLS, the most common "cohesinopathy". It has been proposed that the effects of Nipbl-haploinsufficiency result from disruption of long-range communication between DNA elements. Here we use zebrafish and mouse models of CdLS to examine how transcriptional changes caused by Nipbl deficiency give rise to limb defects, a common condition in individuals with CdLS. In the zebrafish pectoral fin (forelimb, knockdown of Nipbl expression led to size reductions and patterning defects that were preceded by dysregulated expression of key early limb development genes, including fgfs, shha, hand2 and multiple hox genes. In limb buds of Nipbl-haploinsufficient mice, transcriptome analysis revealed many similar gene expression changes, as well as altered expression of additional classes of genes that play roles in limb development. In both species, the pattern of dysregulation of hox-gene expression depended on genomic location within the Hox clusters. In view of studies suggesting that Nipbl colocalizes with the mediator complex, which facilitates enhancer-promoter communication, we also examined zebrafish deficient for the Med12 Mediator subunit, and found they resembled Nipbl-deficient fish in both morphology and gene expression. Moreover, combined partial reduction of both Nipbl and Med12 had a strongly synergistic effect, consistent with both molecules acting in a common pathway. In addition, three-dimensional fluorescent in situ hybridization revealed that Nipbl and Med12 are required to bring regions containing long-range enhancers into close proximity with the zebrafish hoxda cluster. These data demonstrate a crucial role for Nipbl in limb development, and support the view that its actions on multiple gene pathways result from its influence, together with Mediator, on regulation of long-range chromosomal interactions.

Arterial mapping of lower limbs

International Nuclear Information System (INIS)

Acuna Allen, Rafael

2011-01-01

A bibliographic review is realized in the arterial mapping of lower limbs by ultrasonographic. The physical properties of the Doppler effect applied to diagnostic ultrasound are described. The anatomical characteristics of the general arterial system and specifically of the lower limbs arterial system are mentioned. Pathologies of the ischemic arterial disease of lower limbs are explained. The study characteristics of lower limbs arterial mapping are documented to determine its importance as appropriate method for the assessment of lower limb ischemia. An adequate arterial mapping of lower limbs is recognized in atherosclerotic ischemic disease as a reliable initial method alternative to arteriography. Arteriography is considered as reference pattern for therapeutic decision making in patients with critical ischemia of the lower limbs. Non-invasive methods to assess the arterial system of lower limbs has evidenced the advantages of the arterial mapping with Doppler, according to the consulted literature. The combination morphological and hemodynamic information has been possible and a map of the explored zone is made. The arterial mapping by ultrasonography has offered similar reliability to angiography [es

An Abdominal Presentation of Churg-Strauss Syndrome

Directory of Open Access Journals (Sweden)

J. R. E. Rees

2010-01-01

inflammation necrotising systemic vasculitis and necrotising glomerulonephritis. We describe a case of Churg-Strauss syndrome presenting with abdominal pain and later during the hospital admission a mono-neuritis multiplex syndrome affecting the lower limbs. The patient presented in such an atypical fashion with abdominal signs and symptoms that they required laparotomy and the diagnosis was made after histological examination of tissue taken at the time of surgery. Treatment with immunosuppression and aggressive rehabilitation achieved a progressive recovery which continued on discharge from hospital.

'Right-Sided' May-Thurner Syndrome

International Nuclear Information System (INIS)

Abboud, Georges; Midulla, Marco; Lions, Christophe; El Ngheoui, Ziad; Gengler, Laurent; Martinelli, Thomas; Beregi, Jean-Paul

2010-01-01

The May-Thurner syndrome is a well-known anatomical anomaly where the left common iliac vein (LCIV) is compressed between the right common iliac artery and the fifth vertebral body. This report describes the case of a 'right-sided' May-Thurner syndrome where the right common iliac vein (RCIV) is compressed by the left common iliac artery in a patient with a left-sided inferior vena cava (IVC). A 26-year-old woman was admitted to our institution with acute edema of the right lower limb. The diagnosis of May-Thurner syndrome was done by CT scan and confirmed by phlebography. An endovascular treatment with stenting was carried out, with good patency and clinical result at 12-month follow-up.

Case report of Ellis-Van Creveld syndrome

Directory of Open Access Journals (Sweden)

Baghdadi T

2001-09-01

Full Text Available Ellis-van Creveld sydrome (Chondroectodermal dysplasia is a hereditary form of short limb disproportionate dwarfism characterized by diffuse involvement of skeletal system and visceral organs. Two brothers affected by this syndrome are presented here following a brief account of the disease's manifestations.

Multi-fingered haptic palpation utilizing granular jamming stiffness feedback actuators

International Nuclear Information System (INIS)

Li, Min; Sareh, Sina; Seneviratne, Lakmal D; Wurdemann, Helge A; Althoefer, Kaspar; Ranzani, Tommaso; Dasgupta, Prokar

2014-01-01

This paper describes a multi-fingered haptic palpation method using stiffness feedback actuators for simulating tissue palpation procedures in traditional and in robot-assisted minimally invasive surgery. Soft tissue stiffness is simulated by changing the stiffness property of the actuator during palpation. For the first time, granular jamming and pneumatic air actuation are combined to realize stiffness modulation. The stiffness feedback actuator is validated by stiffness measurements in indentation tests and through stiffness discrimination based on a user study. According to the indentation test results, the introduction of a pneumatic chamber to granular jamming can amplify the stiffness variation range and reduce hysteresis of the actuator. The advantage of multi-fingered palpation using the proposed actuators is proven by the comparison of the results of the stiffness discrimination performance using two-fingered (sensitivity: 82.2%, specificity: 88.9%, positive predicative value: 80.0%, accuracy: 85.4%, time: 4.84 s) and single-fingered (sensitivity: 76.4%, specificity: 85.7%, positive predicative value: 75.3%, accuracy: 81.8%, time: 7.48 s) stiffness feedback. (paper)

Masseter Muscle Hypertrophy and Pericardial Effusion in Kocher-Debre-Semelaigne Syndrome Child

Directory of Open Access Journals (Sweden)

Taksande AM

2015-10-01

Full Text Available Muscular pseudohypertrophy associated with severe congenital hypothyroidism has been described as Kocher Debre Semelaigne syndrome, which is a rare disorder. We report a case of 9year old female child with hypothyroidism, limb muscular pseudo-hypertrophy with involvement of masseter muscle along with pericardial effusion in Kocher-Debré-Semelaigne syndrome.

Autoerythrocyte Sensitization Syndrome: A Case Report

Directory of Open Access Journals (Sweden)

Pinar Ozuguz

2014-04-01

Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

THE INFLUENCE OF LOWER LIMB MOVEMENT ON UPPER LIMB MOVEMENT SYMMETRY WHILE SWIMMING THE BREASTSTROKE

OpenAIRE

M. Jaszczak

2011-01-01

This study 1) examined the influence of lower limb movement on upper limb movement symmetry, 2) determined the part of the propulsion phase displaying the greatest hand movement asymmetry, 3) diagnosed the range of upper limb propulsion phase which is the most prone to the influence of the lower limbs while swimming the breaststroke. Twenty-four participants took part in two tests. Half of them performed an asymmetrical leg movement. The propulsion in the first test was generated by four limb...

A novel variable stiffness mechanism for dielectric elastomer actuators

Science.gov (United States)

Li, Wen-Bo; Zhang, Wen-Ming; Zou, Hong-Xiang; Peng, Zhi-Ke; Meng, Guang

2017-08-01

In this paper, a novel variable stiffness mechanism is proposed for the design of a variable stiffness dielectric elastomer actuator (VSDEA) which combines a flexible strip with a DEA in a dielectric elastomer minimum energy structure. The DEA induces an analog tuning of the transverse curvature of the strip, thus conveniently providing a voltage-controllable flexural rigidity. The VSDEA tends to be a fully flexible and compact structure with the advantages of simplicity and fast response. Both experimental and theoretical investigations are carried out to reveal the variable stiffness performances of the VSDEA. The effect of the clamped location on the bending stiffness of the VSDEA is analyzed, and then effects of the lengths, the loading points and the applied voltages on the bending stiffness are experimentally investigated. An analytical model is developed to verify the availability of this variable stiffness mechanism, and the theoretical results demonstrate that the bending stiffness of the VSDEA decreases as the applied voltage increases, which agree well with the experimental data. Moreover, the experimental results show that the maximum change of the relative stiffness can reach about 88.80%. It can be useful for the design and optimization of active variable stiffness structures and DEAs for soft robots, vibration control, and morphing applications.

Benign joint hypermobility syndrome

Directory of Open Access Journals (Sweden)

Iwona Słowińska

2014-11-01

Full Text Available Benign joint hypermobility syndrome (BJHS, commonly known as loose ligament syndrome, is a non-inflammatory rheumatic condition. It is characterised by a greater than normal range of motion of the joints of the limbs and spine. The prevalence of the syndrome in preschool-age children is estimated to be between 2% and 30%, depending on ethnic background (with higher prevalence in Asian and African populations, occurring most often in families with a history of the condition and more frequently in girls. This paper presents a case report of a 12-year-old girl. A broad differential diagnostic approach to recurrent joint inflammation with joint effusion and pain made it possible to establish a diagnosis of benign joint hypermobility syndrome. The child met the Brighton criteria; her Beighton score was 7 out of 9. Patient education aimed at eliminating abnormal joint movement and an appropriate rehabilitation programme play key roles in the treatment of BJHS.

TRANSIT DISORDERS OF THE GASTRIC REMNANT AND ROUX LIMB AFTER ROUX-EN-Y GASTROJEJUNOSTOMY - RELATION TO SYMPTOMATOLOGY AND VAGOTOMY

NARCIS (Netherlands)

VANDERMIJLE, HCJ; BEEKHUIS, H; BLEICHRODT, RP; KLEIBEUKER, JH

Patients after Roux-en-Y gastrojejunostomy frequently complain of upper abdominal pain, fullness, nausea and vomiting. This study was performed to clarify the relationship of this Roux-en-Y syndrome to transit disorders in the gastric remnant and Roux limb, and to vagal status. Using a

A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).

Science.gov (United States)

AlQattan, Mohammad M; AlAbdulkareem, Ibrahim; Ballow, Mariam; Al Balwi, Mohammed

2013-09-15

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries. Copyright © 2013 Elsevier B.V. All rights reserved.

Sirenomelia: The mermaid syndrome: Report of two cases

Science.gov (United States)

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth. PMID:25810681

Sirenomelia: The mermaid syndrome: Report of two cases.

Science.gov (United States)

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

Sirenomelia (mermaid syndrome) is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital visceral abnormalities; however, there are few reports of surviving infants. Our first case was a live born, normally delivered at term by a 27-year-old third gravida of lower socioeconomic status with history of tobacco use. Examination of the baby revealed caudal dysgenesis having fusion of lower limbs, single leg with 1 foot and 5 toes. There was no identifiable external genitalia and anus. The second case was a 34 week, 1.6 kg preterm infant of unidentified sex born to a 28-year-old primigravida mother with overt diabetes mellitus. Incidentally, both the infants died few hours after birth and we report these cases due to their rarity and term live birth.

THE INFLUENCE OF LOWER LIMB MOVEMENT ON UPPER LIMB MOVEMENT SYMMETRY WHILE SWIMMING THE BREASTSTROKE

Directory of Open Access Journals (Sweden)

M. Jaszczak

2011-09-01

Full Text Available This study 1 examined the influence of lower limb movement on upper limb movement symmetry, 2 determined the part of the propulsion phase displaying the greatest hand movement asymmetry, 3 diagnosed the range of upper limb propulsion phase which is the most prone to the influence of the lower limbs while swimming the breaststroke. Twenty-four participants took part in two tests. Half of them performed an asymmetrical leg movement. The propulsion in the first test was generated by four limbs while in the second one only by the upper limbs. The pressure differentials exerted by the water on the back and on the palm of the right and left hand were measured. Then, the asymmetry coefficient of the hand movement was determined. No changes in the level of the asymmetry index in participants performing correct (symmetrical lower limb movement were observed. Incorrect (asymmetrical leg motion resulted in an increase of hand asymmetry. It could be concluded that lower limb faults neutralize upper limb performance when swimming on a rectilinear path. However, most asymmetrical arm performance should be identified with the conversion of propulsion into recovery. Nevertheless, its proneness to influence improper leg performance might be expected at the beginning of arm propulsion.

Stiffness Evolution in Frozen Sands Subjected to Stress Changes

KAUST Repository

Dai, Sheng; Santamarina, Carlos

2017-01-01

Sampling affects all soils, including frozen soils and hydrate-bearing sediments. The authors monitor the stiffness evolution of frozen sands subjected to various temperature and stress conditions using an oedometer cell instrumented with P-wave transducers. Experimental results show the stress-dependent stiffness of freshly remolded sands, the dominant stiffening effect of ice, creep after unloading, and the associated exponential decrease in stiffness with time. The characteristic time for stiffness loss during creep is of the order of tens of minutes; therefore it is inevitable that frozen soils experience sampling disturbances attributable to unloading. Slow unloading minimizes stiffness loss; conversely, fast unloading causes a pronounced reduction in stiffness probably attributable to the brittle failure of ice or ice-mineral bonding.

Stiffness Evolution in Frozen Sands Subjected to Stress Changes

KAUST Repository

Dai, Sheng

2017-04-21

Sampling affects all soils, including frozen soils and hydrate-bearing sediments. The authors monitor the stiffness evolution of frozen sands subjected to various temperature and stress conditions using an oedometer cell instrumented with P-wave transducers. Experimental results show the stress-dependent stiffness of freshly remolded sands, the dominant stiffening effect of ice, creep after unloading, and the associated exponential decrease in stiffness with time. The characteristic time for stiffness loss during creep is of the order of tens of minutes; therefore it is inevitable that frozen soils experience sampling disturbances attributable to unloading. Slow unloading minimizes stiffness loss; conversely, fast unloading causes a pronounced reduction in stiffness probably attributable to the brittle failure of ice or ice-mineral bonding.

Guillain-Barre syndrome following spinal anaesthesia

International Nuclear Information System (INIS)

Sayin, R.; Kati, I.; Gunes, M.

2013-01-01

Guillain-Barre Syndrome (GBS) is the most common disease resulting in acute diffuse flaccid paralysis. It is an autoimmune disease that can occur at any age. The clinical course is characterized by weakness in the arms and legs, areflexia and the progression of muscle weakness from the lower limbs to the upper limbs. The most common causes of GBS include infections, vaccinations, surgery and some medicines. We present the case of a 48 years old male patient, who developed GBS after undergoing surgery for renal calculus, under spinal anaesthesia. In this case report, we presented a rather rare case of GBS occurring following spinal anaesthesia. (author)

Serotonin syndrome associated with sertraline use: case report

OpenAIRE

Bárbara Werner Griciunas; Norton Yoshiaki Kitanishi; Renata Carvalho de Souza; Daniel Azevedo Cavalcante; Leonardo Mattiolli Marini

2017-01-01

Case report of serotonin syndrome in patient who initiated the use of sertraline at a dose greater than twice the recommended for the treatment of psychotic depression. The patient presented contracture of the limbs, puzzled look, mutism and blood pressure 230x110 mmHg. The syndrome is increasingly common, although it is not well recognized. Many medications can cause it and this possibility should be considered in patients taking serotonergic drugs presenting autonomic or mental disorders an...

Hyperinnervation improves Xenopus laevis limb regeneration.

Science.gov (United States)

Mitogawa, Kazumasa; Makanae, Aki; Satoh, Akira

2018-01-15

Xenopus laevis (an anuran amphibian) shows limb regeneration ability between that of urodele amphibians and that of amniotes. Xenopus frogs can initiate limb regeneration but fail to form patterned limbs. Regenerated limbs mainly consist of cone-shaped cartilage without any joints or branches. These pattern defects are thought to be caused by loss of proper expressions of patterning-related genes. This study shows that hyperinnervation surgery resulted in the induction of a branching regenerate. The hyperinnervated blastema allows the identification and functional analysis of the molecules controlling this patterning of limb regeneration. This paper focuses on the nerve affects to improve Xenopus limb patterning ability during regeneration. The nerve molecules, which regulate limb patterning, were also investigated. Blastemas grown in a hyperinnervated forelimb upregulate limb patterning-related genes (shh, lmx1b, and hoxa13). Nerves projecting their axons to limbs express some growth factors (bmp7, fgf2, fgf8, and shh). Inputs of these factors to a blastema upregulated some limb patterning-related genes and resulted in changes in the cartilage patterns in the regenerates. These results indicate that additional nerve factors enhance Xenopus limb patterning-related gene expressions and limb regeneration ability, and that bmp, fgf, and shh are candidate nerve substitute factors. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Experimental Challenges to Stiffness as a Transport Paradigm

Science.gov (United States)

Luce, T. C.

2017-10-01

Transport in plasmas is treated experimentally as a relationship between gradients and fluxes in analogy to the random-walk problem. Gyrokinetic models often predict strong increases in local flux for small increases in local gradient when above a threshold, holding all other parameters fixed. This has been named `stiffness'. The radial scalelength is then expected to vary little with source strength as a result of high stiffness. To probe the role of ExB shearing on stiffness in the DIII-D tokamak, two neutral beam injection power scans in H-mode plasmas were specially crafted-one with constant, low torque and one with increasing torque. The ion heat, electron heat, and ion toroidal momentum transport do not show expected signatures of stiffness, while the ion particle transport does. The ion heat transport shows the clearest discrepancy; the normalized heat flux drops with increasing inverse ion temperature scalelength. ExB shearing affects the transport magnitude, but not the scalelength dependence. Linear gyrofluid (TGLF) and nonlinear gyrokinetic (GYRO) predictions show stiff ion heat transport around the experimental profiles. The ion temperature gradient required to match the ion heat flux with increasing auxiliary power is not correctly described by TGLF, even when parameters are varied within the experimental uncertainties. TGLF also underpredicts transport at smaller radii, but overpredicts transport at larger radii. Independent of the theory/experiment comparison, it is not clear that the theoretical definition of stiffness yields any prediction about parameter scans such as the power scans here, because the quantities that must be held fixed to quantify stiffness are varied. A survey of recent literature indicated that profile resilience is routinely attributed to stiffness, but simple model calculations show profile resilience does not imply stiffness. Taken together, these observations challenge the use of local stiffness as a paradigm for explaining

Subacute anterior spinal cord ischemia with lower limb monoplegia: a clinical dilemma and challenging scenario.

LENUS (Irish Health Repository)

Waters, Peadar S

2012-12-01

A 70-year-old woman presented with crescendo right lower limb monoplegia. Magnetic resonance imaging depicted anterior spinal artery syndrome with an 8.5 cm Crawford type II thoracoabdominal aortic aneurysm (TAAA). A staged hybrid procedure was performed, following which she had total exclusion of her TAAA and full resolution of her monoplegia. Clinical presentations of TAAAs can be diverse and require detailed clinical knowledge and lateral thinking to unearth unorthodox presentations. This erratic presentation of a TAAA with anterior spinal artery syndrome outlines particular challenges with management and portrays the need for tailored utilization of contemporary techniques to deal with the growing complexity of TAAAs.

Schiff-Sherrington syndrome in a horse - Case report

Directory of Open Access Journals (Sweden)

Cibele Lima Lhamas

2015-06-01

Full Text Available ABSTRACT. Lhamas C.L., Anjos B.L., Pfingstag K.G., Quevedo L.S. & Duarte C.A. [Schiff-Sherrington syndrome in a horse - Case report.] Síndrome de Schiff-Sherrington em equino - Relato de caso. Revista Brasileira de Medicina Veterinária, 37(2:163-166, 2015. Curso de Pós-Graduação em Ciência Animal, Universidade Federal do Pampa, Campus Uruguaiana, BR 472, Km 585, Uruguaiana, RS 97500-970, Brasil. E-mail: claudiaduarte@unipampa.edu.br Schiff-Sherrington syndrome clinically corresponds to a manifestation of rigidity extensor or hypertonia of the forelimb and hypotonic paralysis of the hind limbs. It is a common condition in dogs, however, rarely described in large animals. It can be caused by trauma and spinal cord compression conditions. The aim of this study was to describe the case of a two-year-old male horse with Schiff-Sherrington syndrome. The animal was sent with signs of paresis and ataxia of the hind limbs, and during the necropsy, multiple fractures were observed in the 1st and 2nd lumbar vertebrae and spinal cord compression.

Back pain, lower limb immobility and ulcers as indicators of abdominal aorta occlusion below the origin of renal arteries, Leriche syndrome.

Science.gov (United States)

Sharma, Prafulla Kumar; Gupta, Lipy; Garga, Umesh; Prasad, Akhila

2014-04-01

A 33-year-old female, presented with fever, lower limb ulcers and severe backache. The present history evolved four weeks after the complaints of claudication of buttocks, thighs and calves. Lower limb arterial pulsations were not detectable. Colour Doppler and Computed Tomograph (CT) Angiography revealed blockage of abdominal aorta below the origin of renal arteries. The cause of the fever, lower limb ulcers and cruciate backache could be related to this occlusion. This obstruction which was first described by Leriche and is not known to endow with such perplex symptomatology and that too, to a dermatologist with acute febrile illness, severe backache and lower limb ulcers.

Stiffness Evaluation of High Temperature Superconductor Bearing Stiffness for 10 kWh Superconductor Flywheel Energy Storage System

International Nuclear Information System (INIS)

Park, B. J.; Jung, S. Y.; Lee, J. P.; Park, B. C.; Kim, C. H.; Han, S. C.; Du, S. G.; Han, Y. H.; Sung, T. H.

2009-01-01

A superconductor flywheel energy storage(SFES) system is mainly act an electro-mechanical battery which transfers mechanical energy into electrical form and vice versa. SFES system consists of a pair of non-contacting High Temperature Superconductor (HTS) bearings with a very low frictional loss. But it is essential to design an efficient HTS bearing considering with rotor dynamic properties through correct calculation of stiffness in order to support a huge composite flywheel rotor with high energy storage density. Static properties of HTS bearings provide data to solve problems which may occur easily in a running system. Since stiffness to counter vibration is the main parameter in designing an HTS bearing system, we investigate HTS bearing magnetic force through static properties between the Permanent Magnet(PM) and HTS. We measured axial / radial stiffness and found bearing stiffness can be easily changed by activated vibration direction between PM and HTS bulk. These results are used to determine the optimal design for a 10 kWh SFES.

Elastic properties of the aorta and factors affecting aortic stiffness in patients with

Directory of Open Access Journals (Sweden)

Derya Tok

2012-09-01

Full Text Available Objectives: In this study, we evaluated aortic stiffnessand echocardiographic and laboratory factors affectingaortic stiffness in patients with metabolic syndrome(MetS.Materials and methods: Forty-six patients (25 male,mean age 47.3±6.5 years with the diagnosis of MetS accordingto the Adult Treatment Panel III Final Report criteriawere included. Forty-four age and gender matchedhealthy subjects (18 male, mean age 46.0±6.1 yearswere recruited as the control group. Aortic strain, distensibilityand stiffness index were calculated by M-modeechocardiography and diastolic parameters were measured.Results: Left ventricular mass index (LVMI, decelerationtime (DT, isovolumic relaxation time (IVRT wereincreased and mitral E/A ratio was decreased in patientswith MetS compared to controls. In the MetS patients,aortic distensibility was significantly decreased (10.4±3.5cm2.dyn-1.10-6 vs. 12.7±3.4 cm2.dyn-1.10-6, p=0.002,and ASI was significantly increased (6.5±2.0 vs. 3.2±0.8,p<0.001. ASI was positively correlated with triglycerides,fasting glucose, uric acid, hsCRP, LVMI, DT, IVRT andsystolic blood pressure level, and was negatively correlatedwith HDL-cholesterol and mitral E/A ratio. In regressionanalysis, hsCRP (p=0.05 and systolic blood pressurelevel (p<0.001 were independent predictors of ASI.Conclusions: ASI is increased in patients with MetS. Inthese patients; decrease in aortic elasticity properties wasassociated with left ventricular diastolic dysfunction. Highsystolic pressure and hsCRP levels were found to be independentpredictors of ASI.Key words: Metabolic syndrome, Echocardiography,elastic properties of aorta, hsCRP

Prophylactic knee bracing alters lower-limb muscle forces during a double-leg drop landing.

Science.gov (United States)

Ewing, Katie A; Fernandez, Justin W; Begg, Rezaul K; Galea, Mary P; Lee, Peter V S

2016-10-03

Anterior cruciate ligament (ACL) injury can be a painful, debilitating and costly consequence of participating in sporting activities. Prophylactic knee bracing aims to reduce the number and severity of ACL injury, which commonly occurs during landing maneuvers and is more prevalent in female athletes, but a consensus on the effectiveness of prophylactic knee braces has not been established. The lower-limb muscles are believed to play an important role in stabilizing the knee joint. The purpose of this study was to investigate the changes in lower-limb muscle function with prophylactic knee bracing in male and female athletes during landing. Fifteen recreational athletes performed double-leg drop landing tasks from 0.30m and 0.60m with and without a prophylactic knee brace. Motion analysis data were used to create subject-specific musculoskeletal models in OpenSim. Static optimization was performed to calculate the lower-limb muscle forces. A linear mixed model determined that the hamstrings and vasti muscles produced significantly greater flexion and extension torques, respectively, and greater peak muscle forces with bracing. No differences in the timings of peak muscle forces were observed. These findings suggest that prophylactic knee bracing may help to provide stability to the knee joint by increasing the active stiffness of the hamstrings and vasti muscles later in the landing phase rather than by altering the timing of muscle forces. Further studies are necessary to quantify whether prophylactic knee bracing can reduce the load placed on the ACL during intense dynamic movements. Copyright © 2016 Elsevier Ltd. All rights reserved.

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with ...

African Journals Online (AJOL)

Our patient had normal psychomotor development. His father was similarly affected suggesting autosomal dominant inheritance. The patient had red brown hair, lymphedema of lower limbs and kidney stones which were not reported before with this syndrome. Most probably these additional features are associations with ...

Ellis-van Creveld Syndrome

Directory of Open Access Journals (Sweden)

K Rajendra

2010-01-01

Full Text Available Ellis-van Creveld syndrome also known as chondroectodermal dysplasia is a rare genetic disorder of the skeletal dysplasia type, first described by Richard WS Ellis and Simon van Creveld in 1940. The syndrome manifests with several skeletal anomalies, oral mucosal and dental anomalies, congenital cardiac defects, nail dysplasia and polydactyly of one or both limbs. It is caused by mutation of EVC1 and EVC2 genes located in a head-to-head configuration on chromosome 4p16, which has been identified as the causative. The EVC phenotype is variable and affects multiple organs. The presence of oral mucosal and dental alterations, like the presence of numerous frenulum, oligodontia, bellshaped anterior teeth, hypoplastic erupted teeth with high-caries index, will confirm the diagnosis of Ellis-van Creveld syndrome and hence its importance to dentists.

Stiffness and damping in mechanical design

National Research Council Canada - National Science Library

Rivin, Eugene I

1999-01-01

... important conceptual issues are stiffness of mechanical structures and their components and damping in mechanical systems sensitive to and/or generating vibrations. Stiffness and strength are the most important criteria for many mechanical designs. However, although there are hundreds of books on various aspects of strength, and strength issues ar...

MR Elastography Can Be Used to Measure Brain Stiffness Changes as a Result of Altered Cranial Venous Drainage During Jugular Compression.

Science.gov (United States)

Hatt, A; Cheng, S; Tan, K; Sinkus, R; Bilston, L E

2015-10-01

Compressing the internal jugular veins can reverse ventriculomegaly in the syndrome of inappropriately low pressure acute hydrocephalus, and it has been suggested that this works by "stiffening" the brain tissue. Jugular compression may also alter blood and CSF flow in other conditions. We aimed to understand the effect of jugular compression on brain tissue stiffness and CSF flow. The head and neck of 9 healthy volunteers were studied with and without jugular compression. Brain stiffness (shear modulus) was measured by using MR elastography. Phase-contrast MR imaging was used to measure CSF flow in the cerebral aqueduct and blood flow in the neck. The shear moduli of the brain tissue increased with the percentage of blood draining through the internal jugular veins during venous compression. Peak velocity of caudally directed CSF in the aqueduct increased significantly with jugular compression (P drainage through the internal jugular veins during jugular compression have stiffer brains than those who divert venous blood through alternative pathways. These methods may be useful for studying this phenomenon in patients with the syndrome of inappropriately low-pressure acute hydrocephalus and other conditions. © 2015 by American Journal of Neuroradiology.

Holt Oram syndrome : a registry-based study in Europe

NARCIS (Netherlands)

Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen

2014-01-01

Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods: The

Limb salvage surgery.

Science.gov (United States)

Kadam, Dinesh

2013-05-01

The threat of lower limb loss is seen commonly in severe crush injury, cancer ablation, diabetes, peripheral vascular disease and neuropathy. The primary goal of limb salvage is to restore and maintain stability and ambulation. Reconstructive strategies differ in each condition such as: Meticulous debridement and early coverage in trauma, replacing lost functional units in cancer ablation, improving vascularity in ischaemic leg and providing stable walking surface for trophic ulcer. The decision to salvage the critically injured limb is multifactorial and should be individualised along with laid down definitive indications. Early cover remains the standard of care, delayed wound coverage not necessarily affect the final outcome. Limb salvage is more cost-effective than amputations in a long run. Limb salvage is the choice of procedure over amputation in 95% of limb sarcoma without affecting the survival. Compound flaps with different tissue components, skeletal reconstruction; tendon transfer/reconstruction helps to restore function. Adjuvant radiation alters tissue characters and calls for modification in reconstructive plan. Neuropathic ulcers are wide and deep often complicated by osteomyelitis. Free flap reconstruction aids in faster healing and provides superior surface for offloading. Diabetic wounds are primarily due to neuropathy and leads to six-fold increase in ulcerations. Control of infections, aggressive debridement and vascular cover are the mainstay of management. Endovascular procedures are gaining importance and have reduced extent of surgery and increased amputation free survival period. Though the standard approach remains utilising best option in the reconstruction ladder, the recent trend shows running down the ladder of reconstruction with newer reliable local flaps and negative wound pressure therapy.

Management of the multiple limb amputee.

Science.gov (United States)

Davidson, J H; Jones, L E; Cornet, J; Cittarelli, T

2002-09-10

Multiple limb amputations involving at least one upper extremity are very uncommon. The amputation of both an upper and lower limb is even more uncommon. Due to the rarity of these amputations therapists are uncertain regarding the most appropriate treatment methods. While the majority of the protocols used for single limb amputations are appropriate for these multiple limb amputees, there are differences. Loss of multiple limbs creates a problem of overheating for the individual. Loss of an arm and leg results in difficulty donning the prostheses and difficulty using crutches and parallel bars during mobilization. A review is given of 16 multiple limb amputees seen in our rehabilitation centre in the last 15 years. Return to work was seen in one third and was not related to the number of the amputations. A higher proportion of these multiple limb amputations occur through alcoholism or attempted suicide behaviour than occurs with either single upper limb amputations or lower limb amputations. This existing behaviour can create a management problem for the rehabilitation team during rehabilitation. Guidelines as to appropriate prosthetic and preprosthetic care are provided to assist the practitioner who has the acute and long term care of these patients. All multiple limb amputees should be referred to a specialized rehabilitation centre to discuss prosthetic options and long term rehabilitation requirements. This paper does not discuss bilateral lower limb amputations when not combined with an upper limb amputation.

Paget-Schroetter Syndrome in 52-Year-Old Male: An Interesting Case Report

Directory of Open Access Journals (Sweden)

Nik Kosai

2017-04-01

Full Text Available Paget-Schroetter syndrome is a form of upper limb deep venous thrombosis and it is commonly seen in young individuals. Paget-Schroetter syndrome is a rare condition and diagnosis becomes more difficult if it occurs in old individuals. There is no clear consensus regarding the exact treatment of Paget's Schroetter syndrome. A high grade of suspicion with early diagnosis and treatment is needed. We here describe the case of Paget-Schroetter syndrome in a 52-year-old male and discuss the important clinical features and treatment modalities.

How accurate is anatomic limb alignment in predicting mechanical limb alignment after total knee arthroplasty?

Science.gov (United States)

Lee, Seung Ah; Choi, Sang-Hee; Chang, Moon Jong

2015-10-27

Anatomic limb alignment often differs from mechanical limb alignment after total knee arthroplasty (TKA). We sought to assess the accuracy, specificity, and sensitivity for each of three commonly used ranges for anatomic limb alignment (3-9°, 5-10° and 2-10°) in predicting an acceptable range (neutral ± 3°) for mechanical limb alignment after TKA. We also assessed whether the accuracy of anatomic limb alignment was affected by anatomic variation. This retrospective study included 314 primary TKAs. The alignment of the limb was measured with both anatomic and mechanical methods of measurement. We also measured anatomic variation, including the femoral bowing angle, tibial bowing angle, and neck-shaft angle of the femur. All angles were measured on the same full-length standing anteroposterior radiographs. The accuracy, specificity, and sensitivity for each range of anatomic limb alignment were calculated and compared using mechanical limb alignment as the reference standard. The associations between the accuracy of anatomic limb alignment and anatomic variation were also determined. The range of 2-10° for anatomic limb alignment showed the highest accuracy, but it was only 73 % (3-9°, 65 %; 5-10°, 67 %). The specificity of the 2-10° range was 81 %, which was higher than that of the other ranges (3-9°, 69 %; 5-10°, 67 %). However, the sensitivity of the 2-10° range to predict varus malalignment was only 16 % (3-9°, 35 %; 5-10°, 68 %). In addition, the sensitivity of the 2-10° range to predict valgus malalignment was only 43 % (3-9°, 71 %; 5-10°, 43 %). The accuracy of anatomical limb alignment was lower for knees with greater femoral (odds ratio = 1.2) and tibial (odds ratio = 1.2) bowing. Anatomic limb alignment did not accurately predict mechanical limb alignment after TKA, and its accuracy was affected by anatomic variation. Thus, alignment after TKA should be assessed by measuring mechanical alignment rather than anatomic

The Floating Upper Limb: Multiple Injuries Involving Ipsilateral, Proximal, Humeral, Supracondylar, and Distal Radial Limb.

Science.gov (United States)

Manaan, Qazi; Bashir, Adil; Zahoor, Adnan; Mokhdomi, Taseem A; Danish, Qazi

2016-09-01

Floating arm injury represents a common yet complicated injury of the childhood severely associated with limb deformation and even morbidity, if not precisely addressed and credibly operated. Here, we report a rare floating upper limb case of a 9-year-old boy with multiple injuries of ipsilateral proximal humeral, supracondylar and distal radial limb. This is the first report to document such a combined floating elbow and floating arm injury in the same limb. In this report, we discuss the surgical procedures used and recovery of the patient monitored to ascertain the effectiveness of the method in limb reorganisation.

Actometry in measuring the symptom severity of restless legs syndrome.

Science.gov (United States)

Tuisku, K; Holi, M M; Wahlbeck, K; Ahlgren, A J; Lauerma, H

2005-05-01

In a previous, controlled study we demonstrated that the general lower limb activity measured by three-channel actometry is a promising objective measure of restless legs syndrome (RLS) severity. In the present study we have further evaluated the method in measuring RLS symptom severity in an open, single-day pramipexole intervention with 15 RLS patients. Both our standardized actometric parameters (nocturnal lower limb activity and controlled rest activity) decreased significantly during the intervention in parallel with the subjectively reported relief of RLS symptoms.

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Science.gov (United States)

Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

2016-01-01

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

The amniotic band syndrome: antenatal sonographic diagnosis and potential pitfalls.

Science.gov (United States)

Mahony, B S; Filly, R A; Callen, P W; Golbus, M S

1985-05-01

Amniotic band syndrome causes a variety of fetal malformations involving the limbs, craniofacial region, and trunk. Six prenatally diagnosed cases of amniotic band syndrome are discussed. The diagnosis was based on sonographic visualization of either amniotic sheets or bands associated with fetal deformation or deformities in nonembryologic distributions known to characterize the amniotic band syndrome. Seven additional cases are considered in which an aberrant sheet of tissue with a free edge was visualized within the amniotic cavity but no restriction of fetal motion or subsequent deformity was demonstrated.

Churg-strauss syndrome

Directory of Open Access Journals (Sweden)

Subhasish Ghosh

2011-01-01

Full Text Available Churg-Strauss syndrome (CSS is a rare granulomatous necrotizing small vessel vasculitis characterized by the presence of asthma, sinusitis, and hypereosinophilia. The cause of this allergic angiitis and granulomatosis is unknown. Other common manifestations are pulmonary infiltrates, skin, gastrointestinal, and cardiovascular involvement. No data have been reported regarding the role of immune complexes or cell mediated mechanisms in this disease, although autoimmunity is evident with the presence hypergammaglobulinemia, increased levels of IgE and Antineutrophil cytoplasmic antibody (positive in 40%. We report the case of a 27-year-old lady presenting with painful swelling of predominantly lower limbs with extensive vesicles and ecchymotic patches and fever shortly after stopping systemic steroids taken for a prolonged duration (2002--2010. The aim of this case report is to point to the possibility of CSS in patients presenting with extensive skin lesions masquerading as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Syndrome (SJS/TENS.

The stable stiffness triangle - drained sand during deformation cycles

DEFF Research Database (Denmark)

Sabaliauskas, Tomas; Ibsen, Lars Bo

2017-01-01

Cyclic, drained sand stiffness was observed using the Danish triaxial appa- ratus. New, deformation dependant soil property (the stable stiffness triangle) was detected. Using the the stable stiffness triangle, secant stiffness of drained sand was plausible to predict (and control) even during ir...... findings can find application in off-shore, seismic and other engi- neering practice, or inspire new branches of research and modelling wherever dynamic, cyclic or transient loaded sand is encountered....

Pipe elbow stiffness coefficients including shear and bend flexibility factors for use in direct stiffness codes

International Nuclear Information System (INIS)

Perry, R.F.

1977-01-01

Historically, developments of computer codes used for piping analysis were based upon the flexibility method of structural analysis. Because of the specialized techniques employed in this method, the codes handled systems composed of only piping elements. Over the past ten years, the direct stiffness method has gained great popularity because of its systematic solution procedure regardless of the type of structural elements composing the system. A great advantage is realized with a direct stiffness code that combines piping elements along with other structural elements such as beams, plates, and shells, in a single model. One common problem, however, has been the lack of an accurate pipe elbow element that would adequately represent the effects of transverse shear and bend flexibility factors. The purpose of the present paper is to present a systematic derivation of the required 12x12 stiffness matrix and load vectors for a three dimensional pipe elbow element which includes the effects of transverse shear and pipe bend flexibility according to the ASME Boiler and Pressure Vessel Code, Section III. The results are presented analytically and as FORTRAN subroutines to be directly incorporated into existing direct stiffness codes. (Auth.)

Early regulation of axolotl limb regeneration.

Science.gov (United States)

Makanae, Aki; Satoh, Akira

2012-10-01

Amphibian limb regeneration has been studied for a long time. In amphibian limb regeneration, an undifferentiated blastema is formed around the region damaged by amputation. The induction process of blastema formation has remained largely unknown because it is difficult to study the induction of limb regeneration. The recently developed accessory limb model (ALM) allows the investigation of limb induction and reveals early events of amphibian limb regeneration. The interaction between nerves and wound epidermis/epithelium is an important aspect of limb regeneration. During early limb regeneration, neurotrophic factors act on wound epithelium, leading to development of a functional epidermis/epithelium called the apical epithelial cap (AEC). AEC and nerves create a specific environment that inhibits wound healing and induces regeneration through blastema formation. It is suggested that FGF-signaling and MMP activities participate in creating a regenerative environment. To understand why urodele amphibians can create such a regenerative environment and humans cannot, it is necessary to identify the similarities and differences between regenerative and nonregenerative animals. Here we focus on ALM to consider limb regeneration from a new perspective and we also reported that focal adhesion kinase (FAK)-Src signaling controlled fibroblasts migration in axolotl limb regeneration. Copyright © 2012 Wiley Periodicals, Inc.

Periodic Limb Movement Disorder (PLMD) and Restless Legs Syndrome (RLS)

Science.gov (United States)

... the syndrome. Risk factors include the following: A sedentary lifestyle Smoking Obesity Many people with narcolepsy or ... kidney and liver disorders. Treatment Changes in the diet Drugs used to treat Parkinson disease and other ...

Restless Legs Syndrome and Depression: Effect Mediation by Disturbed Sleep and Periodic Limb Movements.

Science.gov (United States)

Koo, Brian B; Blackwell, Terri; Lee, Hochang B; Stone, Katie L; Louis, Elan D; Redline, Susan

2016-11-01

To investigate an association between restless legs syndrome (RLS) and depression and to what extent sleep disturbance, periodic limb movements during sleep (PLMS), and antidepressant medication mediate this relationship. A cross-sectional analysis was conducted of the Osteoporotic Fractures in Older Men Study data in 982 men assessed for RLS (International RLS Study Group scale [IRLSS]) and depression (Geriatric Depression Scale [GDS]), who underwent actigraphy (for sleep latency/efficiency) and polysomnography (for PLMS). Men were split into three groups: no RLS (N = 815), mild RLS (IRLSS ≤ 12, N = 85), moderate-to-severe RLS (IRLSS > 12, N = 82). Depression was defined as GDS score ≥ 6. Logistic and linear regression assessed associations of RLS and depression or number depressive symptoms, respectively. Models were adjusted for age, site, race, education, body mass index, personal habits, benzodiazepine/dopaminergic medication, physical activity, cardiovascular risk factors, and apnea-hypopnea index. Of 982 men, 167 (17.0%) had RLS. Depression was significantly associated with moderate-to-severe RLS after adjustment (versus no RLS: OR [95% CI] 2.85 [1.23, 6.64]). Further adjustment for potential mediators attenuated effect size modestly, most for sleep efficiency (OR: 2.85-2.55). Compared with no RLS, moderate-to-severe RLS was associated with the number of depressive symptoms after adjustment (adjusted means [95% CI]; no RLS: 1.14 [1.05, 1.24] versus IRLSS > 12: 1.69 [1.32, 2.11]). Further adjustment for potential mediators did not alter effect size. For men with PLMS index at least median, number of depressive symptoms significantly increased as RLS category became more severe. Depression is more common as RLS severity worsens. The RLS-depression relationship is modestly explained by sleep disturbance and PLMS. Published by Elsevier Inc.

Limb salvage surgery

Directory of Open Access Journals (Sweden)

Dinesh Kadam

2013-01-01

Full Text Available The threat of lower limb loss is seen commonly in severe crush injury, cancer ablation, diabetes, peripheral vascular disease and neuropathy. The primary goal of limb salvage is to restore and maintain stability and ambulation. Reconstructive strategies differ in each condition such as: Meticulous debridement and early coverage in trauma, replacing lost functional units in cancer ablation, improving vascularity in ischaemic leg and providing stable walking surface for trophic ulcer. The decision to salvage the critically injured limb is multifactorial and should be individualised along with laid down definitive indications. Early cover remains the standard of care, delayed wound coverage not necessarily affect the final outcome. Limb salvage is more cost-effective than amputations in a long run. Limb salvage is the choice of procedure over amputation in 95% of limb sarcoma without affecting the survival. Compound flaps with different tissue components, skeletal reconstruction; tendon transfer/reconstruction helps to restore function. Adjuvant radiation alters tissue characters and calls for modification in reconstructive plan. Neuropathic ulcers are wide and deep often complicated by osteomyelitis. Free flap reconstruction aids in faster healing and provides superior surface for offloading. Diabetic wounds are primarily due to neuropathy and leads to six-fold increase in ulcerations. Control of infections, aggressive debridement and vascular cover are the mainstay of management. Endovascular procedures are gaining importance and have reduced extent of surgery and increased amputation free survival period. Though the standard approach remains utilising best option in the reconstruction ladder, the recent trend shows running down the ladder of reconstruction with newer reliable local flaps and negative wound pressure therapy.

Direct measurement of the intrinsic ankle stiffness during standing

NARCIS (Netherlands)

Vlutters, Mark; Vlutters, M.; Boonstra, Tjitske; Schouten, Alfred Christiaan; van der Kooij, Herman

2015-01-01

Ankle stiffness contributes to standing balance, counteracting the destabilizing effect of gravity. The ankle stiffness together with the compliance between the foot and the support surface make up the ankle-foot stiffness, which is relevant to quiet standing. The contribution of the intrinsic

Is Atherectomy the Best First-Line Therapy for Limb Salvage in Patients With Critical Limb Ischemia?

Science.gov (United States)

Loor, Gabriel; Skelly, Christopher L.; Wahlgren, Carl-Magnus; Bassiouny, Hisham S.; Piano, Giancarlo; Shaalan, Wael

2010-01-01

Objective To determine the efficacy of atherectomy for limb salvage compared with open bypass in patients with critical limb ischemia. Methods Ninety-nine consecutive bypass and atherectomy procedures performed for critical limb ischemia between January 2003 and October 2006 were reviewed. Results A total of 99 cases involving TASC C (n = 43, 44%) and D (n = 56, 56%) lesions were treated with surgical bypass in 59 patients and atherectomy in 33 patients. Bypass and atherectomy achieved similar 1-year primary patency (64% vs 63%; P = .2). However, the 1-year limb salvage rate was greater in the bypass group (87% vs 69%; P = .004). In the tissue loss subgroup, there was a greater limb salvage rate for bypass patients versus atherectomy (79% vs 60%; P = .04). Conclusions Patients with critical limb ischemia may do better with open bypass compared with atherectomy as first-line therapy for limb salvage. PMID:19640919

Nicolau Syndrome after Intramuscular Benzathine Penicillin Injection

Directory of Open Access Journals (Sweden)

Morteza Noaparast

2014-11-01

Full Text Available A 3-year-old boy was admitted to the emergency department with right lower limb pain, edema, and livedoid discoloration that occurred immediately after intramuscular injection of benzathine penicillin. The patient was diagnosed with Nicolau syndrome, a rare complication of intramuscular injection presumed to be related to the inadvertent intravascular injection. It was first reported following intramuscular injection of bismuth salt, but it can occur as a complication of various other drugs. Fasciotomy was carried out due to the resultant compartment syndrome and medical therapy with heparin, corticosteroid, and pentoxifyllin was initiated.

Operator-Based Preconditioning of Stiff Hyperbolic Systems

International Nuclear Information System (INIS)

Reynolds, Daniel R.; Samtaney, Ravi; Woodward, Carol S.

2009-01-01

We introduce an operator-based scheme for preconditioning stiff components encountered in implicit methods for hyperbolic systems of partial differential equations posed on regular grids. The method is based on a directional splitting of the implicit operator, followed by a characteristic decomposition of the resulting directional parts. This approach allows for solution to any number of characteristic components, from the entire system to only the fastest, stiffness-inducing waves. We apply the preconditioning method to stiff hyperbolic systems arising in magnetohydro- dynamics and gas dynamics. We then present numerical results showing that this preconditioning scheme works well on problems where the underlying stiffness results from the interaction of fast transient waves with slowly-evolving dynamics, scales well to large problem sizes and numbers of processors, and allows for additional customization based on the specific problems under study

The design of and chronic tissue response to a composite nerve electrode with patterned stiffness

Science.gov (United States)

Freeberg, M. J.; Stone, M. A.; Triolo, R. J.; Tyler, D. J.

2017-06-01

Objective. As neural interfaces demonstrate success in chronic applications, a novel class of reshaping electrodes with patterned regions of stiffness will enable application to a widening range of anatomical locations. Patterning stiff regions and flexible regions of the electrode enables nerve reshaping while accommodating anatomical constraints of various implant locations ranging from peripheral nerves to spinal and autonomic plexi. Approach. Introduced is a new composite electrode enabling patterning of regions of various electrode mechanical properties. The initial demonstration of the composite’s capability is the composite flat interface nerve electrode (C-FINE). The C-FINE is constructed from a sandwich of patterned PEEK within layers of pliable silicone. The shape of the PEEK provides a desired pattern of stiffness: stiff across the width of the nerve to reshape the nerve, but flexible along its length to allow for bending with the nerve. This is particularly important in anatomical locations near joints or organs, and in constrained compartments. We tested pressure and volume design constraints in vitro to verify that the C-FINE can attain a safe cuff-to-nerve ratio (CNR) without impeding intraneural blood flow. We measured nerve function as well as nerve and axonal morphology following 3 month implantation of the C-FINE without wires on feline peripheral nerves in anatomically constrained areas near mobile joints and major blood vessels in both the hind and fore limbs. Main Results. In vitro inflation tests showed effective CNRs (1.93  ±  0.06) that exceeded the industry safety standard of 1.5 at an internal pressure of 20 mmHg. This is less than the 30 mmHg shown to induce loss of conduction or compromise blood flow. Implanted cats showed no changes in physiology or electrophysiology. Behavioral signs were normal suggesting healthy nerves. Motor nerve conduction velocity and compound motor action potential did not change significantly

Biomechanical constraints on the feedforward regulation of endpoint stiffness.

Science.gov (United States)

Hu, Xiao; Murray, Wendy M; Perreault, Eric J

2012-10-01

Although many daily tasks tend to destabilize arm posture, it is still possible to have stable interactions with the environment by regulating the multijoint mechanics of the arm in a task-appropriate manner. For postural tasks, this regulation involves the appropriate control of endpoint stiffness, which represents the stiffness of the arm at the hand. Although experimental studies have been used to evaluate endpoint stiffness control, including the orientation of maximal stiffness, the underlying neural strategies remain unknown. Specifically, the relative importance of feedforward and feedback mechanisms has yet to be determined due to the difficulty separately identifying the contributions of these mechanisms in human experiments. This study used a previously validated three-dimensional musculoskeletal model of the arm to quantify the degree to which the orientation of maximal endpoint stiffness could be changed using only steady-state muscle activations, used to represent feedforward motor commands. Our hypothesis was that the feedforward control of endpoint stiffness orientation would be significantly constrained by the biomechanical properties of the musculoskeletal system. Our results supported this hypothesis, demonstrating substantial biomechanical constraints on the ability to regulate endpoint stiffness throughout the workspace. The ability to regulate stiffness orientation was further constrained by additional task requirements, such as the need to support the arm against gravity or exert forces on the environment. Together, these results bound the degree to which slowly varying feedforward motor commands can be used to regulate the orientation of maximum arm stiffness and provide a context for better understanding conditions in which feedback control may be needed.

Cefepime Associated With Phenytoin Induced Stevens-Johnson Syndrome.

Science.gov (United States)

Marco-Del Río, José; Domingo-Chiva, Esther; Cuesta-Montero, Pablo; Valladolid-Walsh, Ana; García-Martínez, Eva María

We describe a recent case of Stevens-Johnson Syndrome. A 49-year-old man was admitted to the Intensive Care Unit of an Anaesthesia and Resuscitation Department because of a Fournier gangrene that derived in a sepsis, ventilator-associated pneumonia, and renal failure. He was under treatment with cefepime and suffered a generalized status epilepticus, so started treatment with phenytoin. The next day he developed a "maculous cutaneous eruption in trunk and lower limbs" compatible with a Stevens-Johnson Syndrome. Stevens-Johnson Syndrome is a very severe and potentially fatal multiorganic disease, especially when present in critically ill patients, with a strong drug-related etiology, especially with antiepileptic drugs.

Churg-Strauss syndrome from an orthopaedic perspective.

Science.gov (United States)

Kung, K L; Yee, P K

2015-12-01

Churg-Strauss syndrome, which has been frequently described by physicians in the literature, is a small and medium-sized vessel systemic vasculitis typically associated with asthma, lung infiltrates, and hypereosinophilia. We report a case of Churg-Strauss syndrome with presenting symptoms of bilateral lower limb weakness and numbness only. The patient was admitted to an orthopaedic ward for management and a final diagnosis was reached following sural nerve biopsy. The patient's symptoms responded promptly to steroid treatment and she was able to walk with a stick 3 weeks following admission. This report emphasises the need to be aware of this syndrome when managing patients with neurological deficit in order to achieve prompt diagnosis and treatment.

New modalities of ultrasound-based intima-media thickness, arterial stiffness and non-coronary vascular calcifications detection to assess cardiovascular risk.

Science.gov (United States)

Flore, R; Ponziani, F R; Tinelli, G; Arena, V; Fonnesu, C; Nesci, A; Santoro, L; Tondi, P; Santoliquido, A

2015-04-01

Carotid intima-media thickness (c-IMT), arterial stiffness (AS) and vascular calcification (VC) are now considered important new markers of atherosclerosis and have been associated with increased prevalence of cardiovascular events. An accurate, reproducible and easy detection of these parameters could increase the prognostic value of the traditional cardiovascular risk factors in many subjects at low and intermediate risk. Today, c-IMT and AS can be measured by ultrasound, while cardiac computed tomography is the gold standard to quantify coronary VC, although concern about the reproducibility of the former and the safety of the latter have been raised. Nevertheless, a safe and reliable method to quantify non-coronary (i.e., peripheral) VC has not been detected yet. To review the most innovative and accurate ultrasound-based modalities of c-IMT and AS detection and to describe a novel UltraSound-Based Carotid, Aortic and Lower limbs Calcification Score (USB-CALCs, simply named CALC), allowing to quantify peripheral calcifications. Finally, to propose a system for cardiovascular risk reclassification derived from the global evaluation of "Quality Intima-Media Thickness", "Quality Arterial Stiffness", and "CALC score" in addition to the Framingham score.

The study of stiffness modulus values for AC-WC pavement

Science.gov (United States)

Lubis, AS; Muis, Z. A.; Iskandar, T. D.

2018-02-01

One of the parameters of the asphalt mixture in order for the strength and durability to be achieved as required is the stress-and-strain showing the stiffness of a material. Stiffness modulus is a very necessary factor that will affect the performance of asphalt pavements. If the stiffness modulus value decreases there will be a cause of aging asphalt pavement crack easily when receiving a heavy load. The high stiffness modulus asphalt concrete causes more stiff and resistant to bending. The stiffness modulus value of an asphalt mixture material can be obtained from the theoretical (indirect methods) and laboratory test results (direct methods). For the indirect methods used Brown & Brunton method, and Shell Bitumen method; while for the direct methods used the UMATTA tool. This study aims to determine stiffness modulus values for AC-WC pavement. The tests were conducted in laboratory that used 3 methods, i.e. Brown & Brunton Method, Shell Bitumen Method and Marshall Test as a substitute tool for the UMATTA tool. Hotmix asphalt made from type AC-WC with pen 60/70 using a mixture of optimum bitumen content was 5.84% with a standard temperature variation was 60°C and several variations of temperature that were 30, 40, 50, 70 and 80°C. The stiffness modulus value results obtained from Brown & Brunton Method, Shell Bitumen Method and Marshall Test which were 1374,93 Mpa, 235,45 Mpa dan 254,96 Mpa. The stiffness modulus value decreases with increasing temperature of the concrete asphalt. The stiffness modulus value from the Bitumen Shell method and the Marshall Test has a relatively similar value.The stiffness modulus value from the Brown & Brunton method is greater than the Bitumen Shell method and the Marshall Test, but can not measure the stiffness modulus value at temperature above 80°C.

Compartment and Crush Syndromes After Sleep Deprivation and a Therapeutic Dose of Zolpidem

Directory of Open Access Journals (Sweden)

Martin R. Huecker

2017-07-01

Full Text Available Despite extensive review in the literature, compartment syndrome and crush syndrome remain difficult to diagnose. Trauma, toxins and reperfusion have been associated with these syndromes. Cases involving alcohol and drug abuse have described patients “found down” compressing an extremity. We present a case of a registered nurse who developed compartment syndrome in multiple limbs due to prolonged sleep after sleep deprivation and zolpidem use. To our knowledge, this is the first case of compartment syndrome or crush syndrome to have occurred in the setting of zolpidem use. Sleep disruption in healthcare workers represents a public health issue with dangerous sequelae, both acute and chronic.

Stiffness and thickness of fascia do not explain chronic exertional compartment syndrome

DEFF Research Database (Denmark)

Dahl, Morten; Hansen, Philip; Stål, Per

2011-01-01

Chronic exertional compartment syndrome is diagnosed based on symptoms and elevated intramuscular pressure and often is treated with fasciotomy. However, what contributes to the increased intramuscular pressure remains unknown....

Simvastatin Ameliorates Matrix Stiffness-Mediated Endothelial Monolayer Disruption.

Directory of Open Access Journals (Sweden)

Marsha C Lampi

Full Text Available Arterial stiffening accompanies both aging and atherosclerosis, and age-related stiffening of the arterial intima increases RhoA activity and cell contractility contributing to increased endothelium permeability. Notably, statins are 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA reductase inhibitors whose pleiotropic effects include disrupting small GTPase activity; therefore, we hypothesized the statin simvastatin could be used to attenuate RhoA activity and inhibit the deleterious effects of increased age-related matrix stiffness on endothelial barrier function. Using polyacrylamide gels with stiffnesses of 2.5, 5, and 10 kPa to mimic the physiological stiffness of young and aged arteries, endothelial cells were grown to confluence and treated with simvastatin. Our data indicate that RhoA and phosphorylated myosin light chain activity increase with matrix stiffness but are attenuated when treated with the statin. Increases in cell contractility, cell-cell junction size, and indirect measurements of intercellular tension that increase with matrix stiffness, and are correlated with matrix stiffness-dependent increases in monolayer permeability, also decrease with statin treatment. Furthermore, we report that simvastatin increases activated Rac1 levels that contribute to endothelial barrier enhancing cytoskeletal reorganization. Simvastatin, which is prescribed clinically due to its ability to lower cholesterol, alters the endothelial cell response to increased matrix stiffness to restore endothelial monolayer barrier function, and therefore, presents a possible therapeutic intervention to prevent atherogenesis initiated by age-related arterial stiffening.

Cauda equina syndrome presenting as abdominal pain: a case report.

LENUS (Irish Health Repository)

Ellanti, Prasad

2012-09-01

Cauda equina syndrome (CES) is an uncommon entity. Symptoms include bowel and bladder dysfunction, saddle anesthesia, and varying degrees of lower limb motor and sensory disturbances. The consequences of delayed diagnosis can be devastating, resulting in bowel and bladder incontinence and lower limb paralysis. There is little in literature regarding abdominal pain as a significant feature of the initial presentation of CES. We present the case of a 32-year-old woman with CES who presented to the emergency department with gradually worsening lower abdominal pain.

Analysis of Dynamic Stiffness of Bridge Cap-Pile System

Directory of Open Access Journals (Sweden)

Jinhui Chu

2018-01-01

Full Text Available In order to investigate the applicability of dynamic stiffness for bridge cap-pile system, a laboratory test was performed. A numerical model was also built for this type of system. The impact load was applied on the cap top and the dynamic stiffness was analysed. Then, the effect of the effective friction area between pile and soil was also considered. Finally, the dynamic stiffness relationship between the single pile and the cap-pile system was also compared. The results show that the dynamic stiffness is a sensitive index and can well reflect the static characteristics of the pile at the elastic stage. There is a significant positive correlation between the vertical dynamic stiffness index and bearing capacity of the cap-pile system in the similar formation environment. For the cap-pile system with four piles, the dynamic stiffness is about four times as large as the single pile between 10 and 20 Hz.

Stiff quantum polymers

OpenAIRE

Kleinert, H.

2009-01-01

At ultralow temperatures, polymers exhibit quantum behavior, which is calculated here for the second and fourth moments of the end-to-end distribution in the large-stiffness regime. The result should be measurable for polymers in wide optical traps.

Severe pain as a possible cause of dropped head syndrome that was attenuated after amputation of an ischemic lower limb.

Science.gov (United States)

Maki, Satoshi; Koda, Masao; Furuya, Takeo; Takahashi, Kazuhisa; Yamazaki, Masashi

2016-03-02

Dropped head syndrome (DHS) is defined as weakness of the neck extensor muscles causing a correctable chin-on-the-chest deformity. Here we report the case of a patient with severe pain from lower leg ischemia showing DHS whose symptoms were attenuated by pain relief after amputation of the severely ischemic lower leg. To our knowledge this is the first report indicating that severe pain can cause DHS. A 64-year-old Asian woman was referred to our department with a 1-month history of DHS. She also suffered from severe right foot pain because of limb ischemia. She began to complain of DHS as her gangrenous foot pain worsened. She had neck pain and difficulty with forward gaze. We found no clinical or laboratory findings of neuromuscular disorder or isolated neck extensor myopathy. We amputated her leg below the knee because of progressive foot gangrene. Her severe foot pain resolved after the surgery and her DHS was attenuated. Severe pain can cause DHS. If a patient with DHS has severe pain in another part of the body, we recommend considering aggressive pain relief as a treatment option.

Review of the relationship of restless legs syndrome and periodic limb movements in sleep to hypertension, heart disease, and stroke.

Science.gov (United States)

Walters, Arthur S; Rye, David B

2009-05-01

Evidence is reviewed documenting an intimate relationship among restless legs syndrome (RLS) / periodic limb movements in sleep (PLMS) and hypertension and cardiovascular and cerebrovascular disease. Sympathetic overactivity is associated with RLS/PLMS, as manifested by increased pulse rate and blood pressure coincident with PLMS. Causality is far from definitive. Mechanisms are explored as to how RLS/PLMS may lead to high blood pressure, heart disease, and stroke: (a) the sympathetic hyperactivity associated with RLS/PLMS may lead to daytime hypertension that in turn leads to heart disease and stroke; (b) in the absence of daytime hypertension, this sympathetic hyperactivity may predispose to heart disease and stroke either directly or indirectly via atherosclerotic plaque formation and rupture; and (c) comorbidities associated with RLS/PLMS, such as renal failure, diabetes, iron deficiency, and insomnia, may predispose to heart disease and stroke. One theoretical cause for sympathetic hyperactivity is insufficient All diencephalospinal dopaminergic neuron inhibition of sympathetic preganglionic neurons residing in the intermediolateral cell columns of the spinal cord. We cannot exclude the possibility that peripheral vascular, cardiovascular, and cerebrovascular disease may also contribute to RLS/PLMS, and mechanisms for these possibilities are also discussed.

Epidemiological and clinical aspects of the Guillain-Barre Syndrome

NARCIS (Netherlands)

R. van Koningsveld (Rinske)

2001-01-01

textabstractThe Guillain-Barre syndrome (GBS) is an acute immune-mediated disorder of the peripheral nerves. The essential features are a rapidly progressive, more or less symmetrical weakness of the limbs and decreased or absent tendon reflexes. The weakness reaches its nadir (maximum severity) by

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

NARCIS (Netherlands)

Van Houdt, Jeroen K. J.; Nowakowska, Beata Anna; Sousa, Sergio B.; van Schaik, Barbera D. C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; van den Boogaard, Marie-Jose H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valerie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A.; Maas, Saskia; MacDermot, Kay D.; McKee, Shane; Magee, Alex; de Man, Stella A.; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; Van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H. C.; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert

Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening

Lower limb biomechanics in femoroacetabular impingement syndrome: a systematic review and meta-analysis.

Science.gov (United States)

King, Matthew G; Lawrenson, Peter R; Semciw, Adam I; Middleton, Kane J; Crossley, Kay M

2018-05-01

(1) Identify differences in hip and pelvic biomechanics in patients with femoroacetabular impingement syndrome (FAIS) compared with controls during everyday activities (eg, walking, squatting); and (2) evaluate the effects of interventions on hip and pelvic biomechanics during everyday activities. Systematic review. Medline, CINAHL, EMBASE, Scopus and SPORTDiscus until February 2017. Primary aim: studies that investigated hip or pelvic kinematics and/or joint torques of everyday activities in patients with FAIS compared with the asymptomatic contralateral limb or a control group. Secondary aim: studies that evaluated effects of conservative or surgical interventions on patients with FAIS using pre-post or controlled clinical trial designs. Biomechanical data must have been collected using three-dimensional motion capture devices. Reporting quality was assessed using the Epidemiological Appraisal Instrument and data were pooled (standardised mean difference (SMD), 95% CI) where populations and primary outcomes were similar. Fourteen studies were included (11 cross-sectional and three pre/post intervention), varying between low and moderate reporting quality. Patients with FAIS walked with a lower: peak hip extension angle (SMD -0.40, 95% CI -0.71 to -0.09), peak internal rotation angle (-0.67, 95% CI -1.19 to -0.16) and external rotation joint torque (-0.71, 95% CI -1.07 to -0.35), and squatted to a lesser depth with no difference in hip flexion range. Pre/post intervention data were limited in number and quality, and to surgical cohorts. This review suggests that patients with FAIS may demonstrate hip biomechanical impairments during walking and squatting, with minimal literature available to comment on other tasks. The information presented in the review provides insight into the biomechanical differences associated with FAIS; however, the between-group differences were small to moderate. This information may aid in the development of management strategies for

Clustering of Tissue-Specific Sub-TADs Accompanies the Regulation of HoxA Genes in Developing Limbs

Science.gov (United States)

Berlivet, Soizik; Paquette, Denis; Dumouchel, Annie; Langlais, David; Dostie, Josée; Kmita, Marie

2013-01-01

HoxA genes exhibit central roles during development and causal mutations have been found in several human syndromes including limb malformation. Despite their importance, information on how these genes are regulated is lacking. Here, we report on the first identification of bona fide transcriptional enhancers controlling HoxA genes in developing limbs and show that these enhancers are grouped into distinct topological domains at the sub-megabase scale (sub-TADs). We provide evidence that target genes and regulatory elements physically interact with each other through contacts between sub-TADs rather than by the formation of discreet “DNA loops”. Interestingly, there is no obvious relationship between the functional domains of the enhancers within the limb and how they are partitioned among the topological domains, suggesting that sub-TAD formation does not rely on enhancer activity. Moreover, we show that suppressing the transcriptional activity of enhancers does not abrogate their contacts with HoxA genes. Based on these data, we propose a model whereby chromatin architecture defines the functional landscapes of enhancers. From an evolutionary standpoint, our data points to the convergent evolution of HoxA and HoxD regulation in the fin-to-limb transition, one of the major morphological innovations in vertebrates. PMID:24385922

Clustering of tissue-specific sub-TADs accompanies the regulation of HoxA genes in developing limbs.

Directory of Open Access Journals (Sweden)

Soizik Berlivet

Full Text Available HoxA genes exhibit central roles during development and causal mutations have been found in several human syndromes including limb malformation. Despite their importance, information on how these genes are regulated is lacking. Here, we report on the first identification of bona fide transcriptional enhancers controlling HoxA genes in developing limbs and show that these enhancers are grouped into distinct topological domains at the sub-megabase scale (sub-TADs. We provide evidence that target genes and regulatory elements physically interact with each other through contacts between sub-TADs rather than by the formation of discreet "DNA loops". Interestingly, there is no obvious relationship between the functional domains of the enhancers within the limb and how they are partitioned among the topological domains, suggesting that sub-TAD formation does not rely on enhancer activity. Moreover, we show that suppressing the transcriptional activity of enhancers does not abrogate their contacts with HoxA genes. Based on these data, we propose a model whereby chromatin architecture defines the functional landscapes of enhancers. From an evolutionary standpoint, our data points to the convergent evolution of HoxA and HoxD regulation in the fin-to-limb transition, one of the major morphological innovations in vertebrates.

Bilateral simultaneous traumatic upper arm compartment syndromes associated with anabolic steroids.

Science.gov (United States)

Erturan, Gurhan; Davies, Nev; Williams, Huw; Deo, Sunny

2013-01-01

Acute compartment syndrome, a surgical emergency, is defined as increased pressure in an osseofascial space. The resulting reduction of capillary perfusion to that compartment requires prompt fasciotomy. Treatment delay has a poor prognosis, and is associated with muscle and nerve ischemia, resultant infarction, and late-onset contractures. We report a case of traumatic bilateral upper limb acute compartment syndrome associated with anabolic steroids, requiring bilateral emergency fasciotomies. A 25-year-old male bodybuilder taking anabolic steroids, with no past medical history, presented to the Emergency Department 25 min after a road traffic accident. Secondary survey confirmed injuries to both upper limbs with no distal neurovascular deficit. Plain radiographs demonstrated bilateral metaphyseal fractures of the distal humeri. Within 2 h of the accident, the patient developed clinical features that were consistent with bilateral upper arm compartment syndrome. Bilateral fasciotomies of both anterior and posterior compartments were performed, confirming clinical suspicion. We suggest consideration of a history of anabolic steroid use when evaluating patients with extremity trauma. Copyright © 2013 Elsevier Inc. All rights reserved.

Low Median Nerve Palsy as Initial Manifestation of Churg-Strauss Syndrome.

Science.gov (United States)

Roh, Young Hak; Koh, Young Do; Noh, Jung Ho; Gong, Hyun Sik; Baek, Goo Hyun

2017-06-01

Anterior interosseous nerve (AIN) syndrome is typically characterized by forearm pain and partial or complete dysfunction of the AIN-innervated muscles. Although the exact etiology and pathophysiology of the disorder remain unclear, AIN syndrome is increasingly thought to be an inflammatory condition of the nerve rather than a compressive neuropathy because the symptoms often resolve spontaneously following prolonged observation. However, peripheral neuropathy can be 1 of the first symptoms of systemic vasculitis that needs early systemic immunotherapy to prevent extensive nerve damage. Churg-Strauss syndrome (CSS; eosinophilic granulomatosis with polyangiitis) is 1 type of primary systemic vasculitis that frequently damages the peripheral nervous system. CSS-associated neuropathy usually involves nerves of the lower limb, and few studies have reported on the involvement of the upper limb alone. We report on a rare case of low median nerve palsy as the initial manifestation of CSS. The patient recovered well with early steroid treatment for primary systemic vasculitis. Copyright © 2017 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

CHOROIDAL MELANOMA IN PHAKOMATOSIS PIGMENTOVASCULARIS WITH KLIPPEL-TRENAUNAY SYNDROME.

Science.gov (United States)

Shields, Carol L; Di Nicola, Maura; Pellegrini, Marco; Shields, Jerry A

2017-09-20

To describe the relationship of choroidal melanoma with phakomatosis pigmentovascularis in patients with Klippel-Trenaunay syndrome. Retrospective review of 5 patients. In all 5 cases, the patient was white and the cutaneous port-wine stain was congenital. The port-wine stain involved the chin (n = 1), jawline (n = 2), lower cheek (n = 1), thorax (n = 5), abdomen (n = 4), upper (n = 4), and lower (n = 3) limb(s). The ocular melanocytosis involved the sclera (n = 5), iris (n = 2) and choroid (n = 4). At diagnosis of choroidal melanoma, mean patient age was 57 years (median 61, range 17-83 years). The melanoma demonstrated mean basal diameter of 11.6 mm (median 12, range 5-16 mm) and mean thickness of 5.7 mm (median 6.1, range 2-9), revealing intrinsic tumor pigment and subretinal fluid in all cases. Melanoma management included plaque radiotherapy (n = 3), thermotherapy (n = 1), or enucleation (n = 1). At mean follow-up of 4 years, one patient demonstrated melanoma-related metastasis with death. Phakomatosis pigmentovascularis represents coexistence of Klippel-Trenaunay syndrome (or Sturge-Weber syndrome) and oculo(dermal) melanocytosis, promoting risk for life-threatening uveal melanoma. The authors suggest that all patients with Klippel-Trenaunay syndrome be evaluated for phakomatosis pigmentovascularis and affected patients have dilated fundus examination once or twice a year.

Late survival in Ellis–van Creveld syndrome – A case report

Directory of Open Access Journals (Sweden)

Trinath Mishra

2012-07-01

Full Text Available Ellis–van Creveld syndrome (EVC is an autosomal recessive disorder characterized by chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Acromelic shortening of upper and lower limbs, genu valgum, multiple frenula, deformed teeth, short ribs and narrow thorax and congenital heart diseases complete the picture. The patients with the syndrome rarely survive into adulthood. Here, we report a lady with EVC presenting for the first time in middle age.

Limb Darkening and Planetary Transits: Testing Center-to-limb Intensity Variations and Limb-darkening Directly from Model Stellar Atmospheres

Energy Technology Data Exchange (ETDEWEB)

Neilson, Hilding R.; Lester, John B. [Department of Astronomy and Astrophysics, University of Toronto, 50 St. George Street, Toronto, ON M5S 3H4 (Canada); McNeil, Joseph T.; Ignace, Richard, E-mail: neilson@astro.utoronto.ca [Department of Physics and Astronomy, East Tennessee State University, Box 70652, Johnson City, TN 37614 (United States)

2017-08-10

The transit method, employed by Microvariability and Oscillation of Stars ( MOST ), Kepler , and various ground-based surveys has enabled the characterization of extrasolar planets to unprecedented precision. These results are precise enough to begin to measure planet atmosphere composition, planetary oblateness, starspots, and other phenomena at the level of a few hundred parts per million. However, these results depend on our understanding of stellar limb darkening, that is, the intensity distribution across the stellar disk that is sequentially blocked as the planet transits. Typically, stellar limb darkening is assumed to be a simple parameterization with two coefficients that are derived from stellar atmosphere models or fit directly. In this work, we revisit this assumption and compute synthetic planetary-transit light curves directly from model stellar atmosphere center-to-limb intensity variations (CLIVs) using the plane-parallel Atlas and spherically symmetric SAtlas codes. We compare these light curves to those constructed using best-fit limb-darkening parameterizations. We find that adopting parametric stellar limb-darkening laws leads to systematic differences from the more geometrically realistic model stellar atmosphere CLIV of about 50–100 ppm at the transit center and up to 300 ppm at ingress/egress. While these errors are small, they are systematic, and they appear to limit the precision necessary to measure secondary effects. Our results may also have a significant impact on transit spectra.

Physiotherapy after amputation of the limb

OpenAIRE

Pospíšil, Daniel

2010-01-01

In this bachelor thesis the author considers physiotherapy after amputation of the lower limb. The theoretical section describes the anatomy of the lower limb, a procedure for amputation of the lower limb, occupational theraoy and prosthesis. The author then goes on to discuss physiotherapy in relation to two case studies of patients who have had their lower limbs removed.

Hand Passive Mobilization Performed with Robotic Assistance: Acute Effects on Upper Limb Perfusion and Spasticity in Stroke Survivors

Directory of Open Access Journals (Sweden)

Massimiliano Gobbo

2017-01-01

Full Text Available This single arm pre-post study aimed at evaluating the acute effects induced by a single session of robot-assisted passive hand mobilization on local perfusion and upper limb (UL function in poststroke hemiparetic participants. Twenty-three patients with subacute or chronic stroke received 20 min passive mobilization of the paretic hand with robotic assistance. Near-infrared spectroscopy (NIRS was used to detect changes in forearm tissue perfusion. Muscle tone of the paretic UL was assessed by the Modified Ashworth Scale (MAS. Symptoms concerning UL heaviness, joint stiffness, and pain were evaluated as secondary outcomes by self-reporting. Significant (p=0.014 improvements were found in forearm perfusion when all fingers were mobilized simultaneously. After the intervention, MAS scores decreased globally, being the changes statistically significant for the wrist (from 1.6±1.0 to 1.1±1.0; p=0.001 and fingers (from 1.2±1.1 to 0.7±0.9; p=0.004. Subjects reported decreased UL heaviness and stiffness after treatment, especially for the hand, as well as diminished pain when present. This study supports novel evidence that hand robotic assistance promotes local UL circulation changes, may help in the management of spasticity, and acutely alleviates reported symptoms of heaviness, stiffness, and pain in subjects with poststroke hemiparesis. This opens new scenarios for the implications in everyday clinical practice. Clinical Trial Registration Number is NCT03243123.

Hand Passive Mobilization Performed with Robotic Assistance: Acute Effects on Upper Limb Perfusion and Spasticity in Stroke Survivors.

Science.gov (United States)

Gobbo, Massimiliano; Gaffurini, Paolo; Vacchi, Laura; Lazzarini, Sara; Villafane, Jorge; Orizio, Claudio; Negrini, Stefano; Bissolotti, Luciano

2017-01-01

This single arm pre-post study aimed at evaluating the acute effects induced by a single session of robot-assisted passive hand mobilization on local perfusion and upper limb (UL) function in poststroke hemiparetic participants. Twenty-three patients with subacute or chronic stroke received 20 min passive mobilization of the paretic hand with robotic assistance. Near-infrared spectroscopy (NIRS) was used to detect changes in forearm tissue perfusion. Muscle tone of the paretic UL was assessed by the Modified Ashworth Scale (MAS). Symptoms concerning UL heaviness, joint stiffness, and pain were evaluated as secondary outcomes by self-reporting. Significant ( p = 0.014) improvements were found in forearm perfusion when all fingers were mobilized simultaneously. After the intervention, MAS scores decreased globally, being the changes statistically significant for the wrist (from 1.6 ± 1.0 to 1.1 ± 1.0; p = 0.001) and fingers (from 1.2 ± 1.1 to 0.7 ± 0.9; p = 0.004). Subjects reported decreased UL heaviness and stiffness after treatment, especially for the hand, as well as diminished pain when present. This study supports novel evidence that hand robotic assistance promotes local UL circulation changes, may help in the management of spasticity, and acutely alleviates reported symptoms of heaviness, stiffness, and pain in subjects with poststroke hemiparesis. This opens new scenarios for the implications in everyday clinical practice. Clinical Trial Registration Number is NCT03243123.

Ball Bearing Stiffnesses- A New Approach Offering Analytical Expressions

Science.gov (United States)

Guay, Pascal; Frikha, Ahmed

2015-09-01

Space mechanisms use preloaded ball bearings in order to withstand the severe vibrations during launch.The launch strength requires the calculation of the bearing stiffness, but this calculation is complex. Nowadays, there is no analytical expression that gives the stiffness of a bearing. Stiffness is computed using an iterative algorithm such as Newton-Raphson, to solve the nonlinear system of equations.This paper aims at offering a simplified analytical approach, based on the assumption that the contact angle is constant. This approach gives analytical formulas of the stiffness of preloaded ball bearing.

The effect of limb amputation on standing weight distribution in the remaining three limbs in dogs.

Science.gov (United States)

Cole, Grayson Lee; Millis, Darryl

2017-01-16

Despite the fact that limb amputation is a commonly performed procedure in veterinary medicine, quantitative data regarding outcomes are lacking. The intention of this study was to evaluate the effect of limb amputation on weight distribution to the remaining three limbs at a stance in dogs. Ten dogs with a prior forelimb amputation and ten dogs with a prior hindlimb amputation; all of which had no history of orthopaedic or neural disease in the remaining three limbs were included in the study. Standing weight bearing was evaluated with a commercial stance analyzer in all dogs. Five valid trials were obtained and a mean percentage of weight bearing was calculated for each remaining limb. The dogs with a previous forelimb amputation, and also those with a previous hindlimb amputation, had the largest mean increase in weight bearing in the contralateral forelimb. In conclusion, proactive monitoring of orthopaedic disease in the contralateral forelimb may be advisable in dogs with a previous limb amputation. In addition, when determining candidacy for a limb amputation, disease of the contralateral forelimb should be thoroughly evaluated.

Therapeutic effects of anti-gravity treadmill (AlterG) training on reflex hyper-excitability, corticospinal tract activities, and muscle stiffness in children with cerebral palsy.

Science.gov (United States)

Parvin, Sh; Taghiloo, A; Irani, A; Mirbagheri, M Mehdi

2017-07-01

We aimed to study therapeutic effects of antigravity treadmill (AlterG) training on reflex hyper-excitability, muscle stiffness, and corticospinal tract (CST) function in children with spastic hemiplegic cerebral palsy (CP). Three children received AlterG training 3 days per week for 8 weeks as experimental group. Each session lasted 45 minutes. One child as control group received typical occupational therapy for the same amount of time. We evaluated hyper-excitability of lower limb muscles by H-reflex response. We quantified muscle stiffness by sonoelastography images of the affected muscles. We quantified CST activity by transcranial magnetic stimulation (TMS). We performed the evaluations before and after training for both groups. H response latency and maximum M-wave amplitude were improved in experimental group after training compared to control group. Two children of experimental group had TMS response. Major parameters of TMS (i.e. peak-to-peak amplitude of motor evoked potential (MEP), latency of MEP, cortical silent period, and intensity of pulse) improved for both of them. Three parameters of texture analysis of sonoelastography images were improved for experimental group (i.e. contrast, entropy, and shear wave velocity). These findings indicate that AlterG training can improve reflexes, muscle stiffness, and CST activity in children with spastic hemiplegic CP and can be considered as a therapeutic tool to improve neuromuscular abnormalities occurring secondary to CP.

Plant fibre composites - porosity and stiffness

DEFF Research Database (Denmark)

Madsen, Bo; Thygesen, Anders; Lilholt, Hans

2009-01-01

Plant fibre composites contain typically a relatively large amount of porosity which influences their performance. A model, based on a modified rule of mixtures, is presented to include the influence of porosity on the composite stiffness. The model integrates the volumetric composition...... of the composites with their mechanical properties. The fibre weight fraction is used as an independent parameter to calculate the complete volumetric composition. A maximum obtainable stiffness of the composites is calculated at a certain transition fibre weight fraction, which is characterised by a best possible...... combination of high fibre volume fraction and low porosity. The model is validated with experimental data from the literature on several types of composites. A stiffness diagram is presented to demonstrate that the calculations can be used for tailoring and design of composites with a given profile...

Molecular Cues Guiding Matrix Stiffness in Liver Fibrosis

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Takaoki Saneyasu

2016-01-01

Full Text Available Tissue and matrix stiffness affect cell properties during morphogenesis, cell growth, differentiation, and migration and are altered in the tissue remodeling following injury and the pathological progression. However, detailed molecular mechanisms underlying alterations of stiffness in vivo are still poorly understood. Recent engineering technologies have developed powerful techniques to characterize the mechanical properties of cell and matrix at nanoscale levels. Extracellular matrix (ECM influences mechanical tension and activation of pathogenic signaling during the development of chronic fibrotic diseases. In this short review, we will focus on the present knowledge of the mechanisms of how ECM stiffness is regulated during the development of liver fibrosis and the molecules involved in ECM stiffness as a potential therapeutic target for liver fibrosis.

Imaging features of lower limb malformations above the foot.

Science.gov (United States)

Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

2015-09-01

Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. Copyright © 2015 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

Computed tomography in deep venous thrombosis with limb oedema

International Nuclear Information System (INIS)

Seem, E.; Stranden, E.; Stiris, M.G.; Aker Sykehus, Oslo

1985-01-01

Computed tomography was used in 12 patients to investigate the distribution of oedema in the soft tissue compartments of lower limbs with deep venous thrombosis. Oedema was evenly distributed throughout the subcutis and the muscular compartments in tomograms obtained 25 cm proximal to the ankle. Significantly less swelling in the muscular compartments was found 10 cm proximal to the ankle. Interstitial fluid hydrostatic pressure was measured in the subcutis, and in anterior and posterior muscular compartments, and was significantly increased in all cases. Except for one case, the recorded pressures were well below 30 mmHg, which is considered the limit above which compartment syndromes occur. Tissue compliance was significantly lower in muscular compartments than in the subcutis. (orig.)

The role of colour Doppler sonography in the diagnosis of lower limb Klippel–Trénaunay syndrome

International Nuclear Information System (INIS)

Qi, H.T.; Wang, X.M.; Zhang, X.D.; Zhang, M.H.; Li, C.M.; Bao, S.G.; Yuan, H.

2013-01-01

Aim: To investigate the accuracy of colour Doppler sonography as compared to phlebography in patients with Klippel-Trénaunay syndrome (KTS). Materials and methods: From September 2004 to May 2012, 59 consecutive patients seen in Shandong medical imaging research institute with a clinical suggestion of KTS were included. Thirty-four were female and 25 were male, with a mean age of 28.4 years. Colour Doppler sonography was used to assess the lower limb veins. The main sonographic criteria for a positive diagnosis were visualization of the lateral vein or sciatic vein, capillary haemangioma, and abnormality of the deep veins. These data were compared with phlebography findings. The κ statistic was used to determine the level of agreement. The sensitivity, specificity, positive and negative predictive values, and accuracy of colour Doppler sonography as a diagnostic test were assessed. Results: Colour Doppler sonography findings were positive in 21 of 59 patients with a clinical suggestion of KTS. The diagnosis was confirmed using phlebography in 22 patients. There were two false-positive results and one false-negative result by colour Doppler sonography. The κ-value was 0.892. Sensitivity, specificity, positive and negative predictive values, and accuracy for colour Doppler sonography were 95.4, 94.6, 91.3, 97.2, and 94.9%, respectively. Conclusion: Colour Doppler sonography is an accurate, reliable, and non-invasive investigation in the assessment of patients with suspected KTS

Progressive numbness of distal limbs for two years, unsteady gait for two months

Directory of Open Access Journals (Sweden)

Jun MA

2016-11-01

Full Text Available A 50-year-old female was admitted to our department, complaining of progressive numbness of distal limbs for two years and unsteady gait for two months. “Peripheral neuropathy” was the presumed diagnosis. She has suffered dry mouth for months. Neurological examination revealed proximal upper muscle strength was normal and distal was 5-/5 while muscle strength in lower limbs was normal. Tendon reflexes in all limbs were reduced, and superficial sensation as well as deep sensation in all limbs was also diminished. Deep sensation below T8-10 was diminished. Romberg’s test was positive with negative pathological reflex. Several sensory nerves action potentials (SNAPs were diminished or absent with normal compound muscle action potentials (CMAPs. Cervical MRI showed hyperintensities in the dorsal column. Serum anti-Ro/SSA antibody was positive. Tear break-up time was abnormal in either eye (5s, normal range>10s; the rate of saliva production declined 0.02 ml/min (> 1.50 ml/15 min; parotid gland contrast sialography was abnormal; lip biopsy was positive with focal lymphocytic sialadenitis with focus score ≥1. The patient was diagnosed as primary Sjogren's syndrome and sensory neuronopathy. She received oral prednisone in dose of 1mg/(kg·d for four weeks, then reduce the dosage with 5mg/w to 0.50mg/ (kg·d. Later she reduced the dosage with 2.5mg/per week. At the same time, she got cyclophosphamide (100mg every other day and hydroxychloroquine (0.20g twice a day. Numbness of limbs and unsteady gait were improved when the patient was discharged. Two month later, during the follow-up, the patient’ gait was slightly improved, but the numbness still existed. DOI: 10.3969/j.issn.1672-6731.2016.11.016

Gitelman′s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis

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Kunal Gandhi

2016-01-01

Full Text Available 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. Past history was significant for three episodes of transient lower limb weakness. On examination, blood pressure was 110/70 mm Hg. Chvostek′s sign and Trousseau′s sign were positive. Neurologically, she was fully oriented. She had Grade 3 power in all the four limbs with intact sensation. Laboratory tests showed hypocalcemia (7.8 mg/dL, hypokalemia (2.2 mEq/L, hypomagnesemia (0.9 mEq/L, and hypocalciuria (104 mg/day. Arterial blood gas showed mild metabolic alkalosis with respiratory compensation. Thus, a clinical diagnosis of GS was made. The patient made a remarkable recovery after the correction of electrolyte imbalance. The aim of this case report is to re-emphasize the fact that hypocalcemia can rarely occur in Gitelman′s syndrome.

Is chronic obstructive pulmonary disease associated with increased arterial stiffness?

DEFF Research Database (Denmark)

Janner, Julie H; McAllister, David A; Godtfredsen, Nina S

2012-01-01

We hypothesize that airflow limitation is associated with increasing arterial stiffness and that having COPD increases a non-invasive measure of arterial stiffness - the aortic augmentation index (AIx) - independently of other CVD risk factors.......We hypothesize that airflow limitation is associated with increasing arterial stiffness and that having COPD increases a non-invasive measure of arterial stiffness - the aortic augmentation index (AIx) - independently of other CVD risk factors....

A Rapid Aeroelasticity Optimization Method Based on the Stiffness characteristics

OpenAIRE

Yuan, Zhe; Huo, Shihui; Ren, Jianting

2018-01-01

A rapid aeroelasticity optimization method based on the stiffness characteristics was proposed in the present study. Large time expense in static aeroelasticity analysis based on traditional time domain aeroelasticity method is solved. Elastic axis location and torsional stiffness are discussed firstly. Both torsional stiffness and the distance between stiffness center and aerodynamic center have a direct impact on divergent velocity. The divergent velocity can be adjusted by changing the cor...

Evaluation of Limb-Girdle Muscular Dystrophy

Science.gov (United States)

2014-03-06

Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency); Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency); Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)

Three-phase scintigraphy in the Sudeck syndrome

International Nuclear Information System (INIS)

Koppers, B.

1982-01-01

37 patients with clinically and radiologically proved reflex sympathetic dystrophy syndrome were scintigraphied by sup(99)mTc-MDP (three-phase scintigraphy). In 87% of the examinations (all three-phases) an increased tracer accumulation in the region of the affected limb could be seen scintigraphically. The majority of the positive results (92% resp. 87%) were found in the intervall phase (phase II) and the late phase (phase III) of the scintigraphic examinations. - We recommend a staging of the increase of the tracer accumulation when examing the reflex sympathetic dystrophy syndrome. This staging doesn't significantly correlate with the familiar clinical and radiological stagings. However it may be useful when assessing the course of the syndrome. - Increased tracer accumulations could be observed in the case of clinically, radiologically and scintigraphically manifest reflex sympathetic dystrophy syndrome in the region of the foot, frequently in the ipsilateral knee region, rarely in the ipsilateral hip joint region, although clinically the syndrome could not be observed in these regions. (orig.) [de

Acute compartment syndrome caused by uncontrolled hypothyroidism.

Science.gov (United States)

Modi, Anar; Amin, Hari; Salzman, Matthew; Morgan, Farah

2017-06-01

Acute compartment syndrome is increased tissue pressure exceeding perfusion pressure in a closed compartment resulting in nerve and muscle ischemia. Common precipitating causes are crush injuries, burns, substance abuse, osseous or vascular limb trauma. This is a case of 42year old female with history of hypothyroidism who presented to emergency room with acute onset of severe pain and swelling in right lower extremity. Physical examination was concerning for acute compartment syndrome of right leg which was confirmed by demonstration of elevated compartmental pressures. No precipitating causes were readily identified. Further laboratory testing revealed uncontrolled hypothyroidism. Management included emergent fasciotomy and initiating thyroid hormone replacement. This case represents a rare association between acute compartment syndrome and uncontrolled hypothyroidism. We also discuss the pathogenesis of compartment syndrome in hypothyroid patients and emphasize the importance of evaluating for less common causes, particularly in setting of non-traumatic compartment syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

Sonographic features of lethal multiple pterygium syndrome at 14 weeks.

Science.gov (United States)

Chen, Min; Chan, Gavin Shueng Wai; Lee, Chin Peng; Tang, Mary Hoi Yin

2005-06-01

Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.

Unusual case of failure to thrive: Type III Bartter syndrome.

Science.gov (United States)

Agrawal, S; Subedi, K; Ray, P; Rayamajhi, A

2016-09-01

Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive.

The benefit of limb cloud imaging for infrared limb sounding of tropospheric trace gases

Directory of Open Access Journals (Sweden)

G. Heinemann

2009-06-01

Full Text Available Advances in detector technology enable a new generation of infrared limb sounders to measure 2-D images of the atmosphere. A proposed limb cloud imager (LCI mode will detect clouds with a spatial resolution unprecedented for limb sounding. For the inference of temperature and trace gas distributions, detector pixels of the LCI have to be combined into super-pixels which provide the required signal-to-noise and information content for the retrievals. This study examines the extent to which tropospheric coverage can be improved in comparison to limb sounding using a fixed field of view with the size of the super-pixels, as in conventional limb sounders. The study is based on cloud topographies derived from (a IR brightness temperatures (BT of geostationary weather satellites in conjunction with ECMWF temperature profiles and (b ice and liquid water content data of the Consortium for Small-scale Modeling-Europe (COSMO-EU of the German Weather Service. Limb cloud images are simulated by matching the cloud topography with the limb sounding line of sight (LOS. The analysis of the BT data shows that the reduction of the spatial sampling along the track has hardly any effect on the gain in information. The comparison between BT and COSMO-EU data identifies the strength of both data sets, which are the representation of the horizontal cloud extent for the BT data and the reproduction of the cloud amount for the COSMO-EU data. The results of the analysis of both data sets show the great advantage of the cloud imager. However, because both cloud data sets do not present the complete fine structure of the real cloud fields in the atmosphere it is assumed that the results tend to underestimate the increase in information. In conclusion, real measurements by such an instrument may result in an even higher benefit for tropospheric limb retrievals.

Radiography of syndactylous limbs of cattle

International Nuclear Information System (INIS)

Taura, Y.; Takeuchi, A.; Uchino, T.

1985-01-01

Fore and hind limbs of 4-month-old Holstein-Friesian cattle ♀ (No.I) and those of 1-month-old Holstein-Friesian×Japanese Black cattle ♀ (No.II) suffering from syndactyly were dissected by means of radiographic examinations. The details were reported as follows. 1. The phalanges of both fore and left hind limbs of No.II cattle were completely fused. But, all the phalanges of left fore limb and proximal phalanges of right fore limb in No.I and the distal phalanges of right hind limb in No.II were normal, the others being of partial synostosis. 2. The distal parforating canal was absent in the metacarpus and the right metatarsus in No.II cattle. Also, in No.II on the distal part of the metacarpal or metatarsal, bone vestiges were noted, not only of the fifth and second metacarpus or metatarsus, but also the mutually jointed phalanges. 3. In No.I cattle, the left fore limb and 4 proximal sesamoid bones and 2 distal sesamoid bones, but the right limb had 4 sesamoid bones and 0 distal one. In No.II cattle, the fore limbs had 2 proximal and 0 distal sesamoid bones, left hind limb had 3 proximal and 0 distal ones, right hind limb had 3 proximal and 1 distal ones. 4. The arteries accommodated the syndactylous deformities. The median and radial arteries were fixed to be descended on to the palmar side of the metacarpus and mutually anastomosed to form a deep palmar arch. arising from the deep palmar arch, two branches (palmar proper digital aa. III and IV) were terminated by the lateral and medial palmar surfaces of the digit, where some anastomosing arches were formed by them. The arteries of the hind limbs were also similar to those of the fore limbs. 5. In radiographic examinations of syndactyly (in No.II) after 7-month feeding, hoof and digital bones were noted to have been developed, but distal phalanges were destructed and left in suspicion of bad prognosis

Damper modules with adapted stiffness ratio

Energy Technology Data Exchange (ETDEWEB)

Sonnenburg, R.; Stretz, A. [ZF Sachs AG, Entwicklungszentrum, Schweinfurt (Germany)

2011-07-15

A mechanism for the excitation of piston rod vibrations in automotive damper modules is discussed by a simple model. An improved nonlinear model based on elasticity effects leads to good simulation results. It is shown theoretically and experimentally that the adaptation of the stiffness of the piston rod bushing to the ''stiffness'' of the damper force characteristic can eliminate the piston rod oscillations completely. (orig.)

Rotational and peak torque stiffness of rugby shoes.

Science.gov (United States)

Ballal, Moez S; Usuelli, Federico Giuseppe; Montrasio, Umberto Alfieri; Molloy, Andy; La Barbera, Luigi; Villa, Tomaso; Banfi, Giuseppe

2014-09-01

Sports people always strive to avoid injury. Sports shoe designs in many sports have been shown to affect traction and injury rates. The aim of this study is to demonstrate the differing stiffness and torque in rugby boots that are designed for the same effect. Five different types of rugby shoes commonly worn by scrum forwards were laboratory tested for rotational stiffness and peak torque on a natural playing surface generating force patterns that would be consistent with a rugby scrum. The overall internal rotation peak torque was 57.75±6.26 Nm while that of external rotation was 56.55±4.36 Nm. The Peak internal and external rotational stiffness were 0.696±0.1 and 0.708±0.06 Nm/deg respectively. Our results, when compared to rotational stiffness and peak torques of football shoes published in the literature, show that shoes worn by rugby players exert higher rotational and peak torque stiffness compared to football shoes when tested on the same natural surfaces. There was significant difference between the tested rugby shoes brands. In our opinion, to maximize potential performance and lower the potential of non-contact injury, care should be taken in choosing boots with stiffness appropriate to the players main playing role. Copyright © 2014 Elsevier Ltd. All rights reserved.

Popliteal artery entrapment syndrome in a young girl

International Nuclear Information System (INIS)

Haidar, Salwa; Thomas, Karen; Miller, Stephen

2005-01-01

Popliteal artery entrapment syndrome (PAES) is well-described in adults, but is an uncommon cause of lower-limb pain in children. We present an 11.5-year-old girl with thrombosed aneurysm of the right popliteal artery, subsequently diagnosed with bilateral type I PAES. Multimodality illustration of the radiological findings is presented. (orig.)

Stiffness requirement of flexible skin for variable trailing-edge camber wing

Institute of Scientific and Technical Information of China (English)

无

2010-01-01

The method for analyzing the deformation of flexible skin under the air loads was developed based on the panel method and finite element method.The deformation of flexible skin under air pressures and effects of the local deformation on the aerodynamic characteristics were discussed.Numerical results show that the flexible skin on the upper surface of trailing-edge will bubble under the air loads and the bubble has a powerful effect on the aerodynamic pressure near the surface of local deforma-tion.Then the stiffness requirements for flexible skin of variable trailing-edge were given by using the Jacobs rule,i.e.,the maximum displacement of skin is not greater than 0.1% of wing chord.Results show that the in-plane stiffness can be reduced by increasing the ratio of bending stiffness to in-plane stiffness.Although the deformation of flexible skin increases with the in-plane stiffness decreasing,it depends on the bending stiffness.When the bending stiffness exceeds critical value,the deformation of flexible skin only depends on the bending stiffness and has nothing to do with the in-plane stiffness.The conclusions can be used for the structural design of flexible skin.

Diagnosis and surgical approach of popliteal artery entrapment syndrome: a retrospective study

Directory of Open Access Journals (Sweden)

Stavros Gourgiotis

2008-02-01

Full Text Available Stavros Gourgiotis1, John Aggelakas1, Nikolaos Salemis1, Charalabos Elias2, Charalabos Georgiou11Second Surgical Department, 401 General Army Hospital of Athens, Greece; 2Second Surgical Department, 417 NIMTS Veterans General Hospital of Athens, GreeceBackground: Popliteal artery entrapment syndrome (PAES is a rare but potentially limb threatening peripheral vascular disease occurring predominantly in young adults. This study is a retrospective review of 49 limbs in 38 patients with PAES treated surgically over an 8-year period.Patients and methods: From 1995 to 2002, 38 patients with a mean age of 21 years (range, 18–29 years underwent surgery for PAES at a single institution. The patients’ demographic data and clinical features are recorded. The preoperative diagnosis of PAES was made based on various combinations of investigations including positional stress test, duplex ultrasonography, computed tomography, computed tomographic angiography, and angiography. Results: Nine, 33, and 7 patients had Delaney’s type I, II, and III PAES respectively. The surgical procedures consisted of simple release of the popliteal artery in 33 limbs (67.3%, autogenous saphenous vein (ASV patch angioplasty with or without thromboendarterectomy (TEA in 5 limbs (10.2% and ASV graft interposition or bypass in 11 limbs (22.5%. At a median follow up of 34 months (range, 8–42 months, there were no postoperative complications and all the patients were cured of their symptoms.Conclusions: PAES is an unusual but important cause of peripheral vascular insufficiency especially in young patients. Early diagnosis through a combined approach is necessary for exact diagnosis. Popliteal artery release alone or with vein bypass is the treatment of choice when intervention is indicated for good operative outcome and to prevent limb loss.Keywords: popliteal artery, entrapment syndrome, diagnosis, surgery, treatment

Case report: waardenburg syndrome.

Science.gov (United States)

Dumayas, Grace Lea; Capó-Aponte, José E

2015-03-01

A case of Waardenburg syndrome type 1 is described and relevant literature is reviewed to raise awareness about this rare syndrome, including the classification of each subtype and the differentiating clinical manifestations. A 44-year-old African-American female presented for a routine evaluation with hearing loss, dystopia canthorum (W index = 2.74), and almost complete gray hair. In addition, she presented with heterochromia irides, different fundus pigmentation between eyes. The patient did not have any upper limbs defect, cranial skeletal abnormalities, or intestinal disorders. Facial abnormalities and a white forelock are prominent features difficult to overlook during a routine ophthalmological examination. A careful medical history in patients with suspected Waardenburg syndrome is important to accurately classify this rare condition and to identify potential systemic implications associated to each subtype. The associated systemic complications can be addressed and managed through referral to the appropriate subspecialties. Reprint & Copyright © 2015 Association of Military Surgeons of the U.S.

Subspace methods for identification of human ankle joint stiffness.

Science.gov (United States)

Zhao, Y; Westwick, D T; Kearney, R E

2011-11-01

Joint stiffness, the dynamic relationship between the angular position of a joint and the torque acting about it, describes the dynamic, mechanical behavior of a joint during posture and movement. Joint stiffness arises from both intrinsic and reflex mechanisms, but the torques due to these mechanisms cannot be measured separately experimentally, since they appear and change together. Therefore, the direct estimation of the intrinsic and reflex stiffnesses is difficult. In this paper, we present a new, two-step procedure to estimate the intrinsic and reflex components of ankle stiffness. In the first step, a discrete-time, subspace-based method is used to estimate a state-space model for overall stiffness from the measured overall torque and then predict the intrinsic and reflex torques. In the second step, continuous-time models for the intrinsic and reflex stiffnesses are estimated from the predicted intrinsic and reflex torques. Simulations and experimental results demonstrate that the algorithm estimates the intrinsic and reflex stiffnesses accurately. The new subspace-based algorithm has three advantages over previous algorithms: 1) It does not require iteration, and therefore, will always converge to an optimal solution; 2) it provides better estimates for data with high noise or short sample lengths; and 3) it provides much more accurate results for data acquired under the closed-loop conditions, that prevail when subjects interact with compliant loads.

Churg Strauss Syndrome: a Review | Borke | Nigerian Journal of ...

African Journals Online (AJOL)

Churg Strauss syndrome is a medical condition of unknown aetiology characterized by asthma, eosinophilia and finally vasculitis involving small vessels in the limbs and nasal sinuses and the lungs. The purpose of this review is to highlight the natural history of this condition, the pathogenesis, clinical features and ...

A painless and constraint-free method to estimate viscoelastic passive dynamics of limbs' joints to support diagnosis of neuromuscular diseases.

Science.gov (United States)

Venture, Gentiane; Nakamura, Yoshihiko; Yamane, Katsu; Hirashima, Masaya

2007-01-01

Though seldom identified, the human joints dynamics is important in the fields of medical robotics and medical research. We present a general solution to estimate in-vivo and simultaneously the passive dynamics of the human limbs' joints. It is based on the use of the multi-body description of the human body and its kinematics and dynamics computations. The linear passive joint dynamics of the shoulders and the elbows: stiffness, viscosity and friction, is estimated simultaneously using the linear least squares method. Acquisition of movements is achieved with an optical motion capture studio on one examinee during the clinical diagnosis of neuromuscular diseases. Experimental results are given and discussed.

Radiologic analysis of congenital limb anomalies

International Nuclear Information System (INIS)

Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

1994-01-01

Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

Pulling a polymer with anisotropic stiffness near a sticky wall

International Nuclear Information System (INIS)

Tabbara, R; Owczarek, A L

2012-01-01

We solve exactly a two-dimensional partially directed walk model of a semi-flexible polymer that has one end tethered to a sticky wall, while a pulling force away from the adsorbing surface acts on the free end of the walk. This model generalizes a number of previously considered adsorption models by incorporating individual horizontal and vertical stiffness effects, in competition with a variable pulling angle. A solution to the corresponding generating function is found by means of the kernel method. While the phases and related phase transitions are similar in nature to those found previously the analysis of the model in terms of its physical variables highlights various novel structures in the shapes of the phase diagrams and related behaviour of the polymer. We review the results of previously considered sub-cases, augmenting these findings to include analysis with respect to the model’s physical variables—namely, temperature, pulling force, pulling angle away from the surface, stiffness strength and the ratio of vertical to horizontal stiffness potentials, with our subsequent analysis for the general model focusing on the effect that stiffness has on this pulling angle range. In analysing the model with stiffness we also pay special attention to the case where only vertical stiffness is included. The physical analysis of this case reveals behaviour more closely resembling that of an upward pulling force acting on a polymer than it does of a model where horizontal stiffness acts. The stiffness–temperature phase diagram exhibits re-entrance for low temperatures, previously only seen for three-dimensional or co-polymer models. For the most general model we delineate the shift in the physical behaviour as we change the ratio of vertical to horizontal stiffness between the horizontal-only and the vertical-only stiffness regimes. We find that a number of distinct physical characteristics will only be observed for a model where the vertical stiffness dominates

Influence of stiffness on CHF for horizontal tubes under LPLF conditions

Energy Technology Data Exchange (ETDEWEB)

Baburajan, P.K. [Nuclear Safety Analysis Division, AERB, Niyamak Bhavan, 400094 (India); Bisht, Govind Singh [Department of Mechanical Engineering, IIT Bombay, 400076 (India); Gaikwad, Avinash J. [Nuclear Safety Analysis Division, AERB, Niyamak Bhavan, 400094 (India); Prabhu, S.V., E-mail: svprabhu@iitb.ac.in [Department of Mechanical Engineering, IIT Bombay, 400076 (India)

2014-10-01

Highlights: • Effect of stiffness on the CHF in horizontal tube under LPLF conditions is studied. • CHF increases with the increase in stiffness. • Correlation for the prediction of CHF as a function of stiffness is developed. • Correlation for mass flux at CHF in terms of stiffness and initial mass flux is given. • RELAP5 is capable of predicting the effect of stiffness on CHF. - Abstract: Studies reported in the past on critical heat flux (CHF) are mostly limited to vertical flow, large channel diameter, high pressure and high mass flux. Since horizontal flow is commonly encountered in boiler tubes, refrigerating equipments and nuclear reactor fuel channels (PHWR), there is a need to understand horizontal flow CHF, generate sufficient experimental database and to develop reliable predictive method. Few studies are reported on the effect of upstream flow restrictions on flow instabilities and CHF. The present work investigates the effect of upstream flow restriction on CHF in horizontal flow at near atmospheric pressure conditions. In the present study, stiffness is defined as the ratio of upstream flow restriction pressure drop to the test section pressure drop. The classification of a flow boiling system as soft or stiff on the basis of quantification of the stiffness is attempted. Experimental data shows an increase in the CHF with the increase in the stiffness for a given initial mass flux. A correlation for the prediction of CHF under various stiffness conditions is developed. A correlation is suggested to predict the mass flux at CHF as a function of stiffness and initial mass flux. Modeling and transient analysis of the stiffness effect on CHF is carried out using the thermal hydraulic system code RELAP5. The predicted phenomena are in agreement with the experimental observations.

Fatigue crack paths under the influence of changes in stiffness

Directory of Open Access Journals (Sweden)

G. Kullmer

2016-02-01

Full Text Available An important topic of the Collaborative Research Centre TRR 30 of the Deutsche Forschungsgemeinschaft (DFG is the crack growth behaviour in graded materials. In addition, the growth of cracks in the neighbourhood of regions and through regions with different material properties belongs under this topic. Due to the different material properties, regions with differing stiffness compared to the base material may arise. Regions with differing stiffness also arise from ribs, grooves or boreholes. Since secure findings on the propagation behaviour of fatigue cracks are essential for the evaluation of the safety of components and structures, the growth of cracks near changes in stiffness has to be considered, too. Depending on the way a crack penetrates the zone of influence of such a change in stiffness and depending on whether this region is more compliant or stiffer than the surrounding area the crack may grow towards or away from this region. Both cases result in curved crack paths that cannot be explained only by the global loading situation. To evaluate the influence of regions with differing stiffness on the path of fatigue cracks the paths and the stress intensity factors of cracks growing near and through regions with differing stiffness are numerically determined with the program system ADAPCRACK3D. Therefore, arrangements of changes in stiffness modelled as material inclusions with stiffness properties different from the base material or modelled as ribs and grooves are systematically varied to develop basic conclusions about the crack growth behaviour near and through changes in stiffness.

On prestress stiffness analysis of bolt-plate contact assemblies

DEFF Research Database (Denmark)

Pedersen, Niels Leergaard; Pedersen, Pauli

2008-01-01

, but with finite element (FE) and contact analysis, it is possible to find the stiffness of the member. In the case of many connections and for practical applications, it is not suitable to make a full FE analysis. The purpose of the present paper is to find simplified expressions for the stiffness of the member......, including the case when the width of the member is limited. The calculation of the stiffness is based on the FE, including the solution to the contact problem, and we express the stiffness as a function of the elastic energy in the structure, whereby the definition of the displacements related...

Low frequency noise reduction using stiff light composite panels

Institute of Scientific and Technical Information of China (English)

DENG Yongchang; LIN Weizheng

2003-01-01

The experiment presented in this paper is to investigate and analyze the noise reduction at low frequency using stiff light composite panels. Since these composite panels are made of lightweight and stiff materials, this actuation strategy will enable the creation of composite panels for duct noise control without using traditional heavy structural mass. The results suggest that the mass-spring resonance absorption in the case of a comparatively stiff thick panel with a thin flexible plate is more efficient with minimum weight, when subjected to low-frequency (<500 Hz). The efficiency of the panel absorber depends on the mass of the thin flexible plate and the stiffness of the panel.

Elastin in large artery stiffness and hypertension

Science.gov (United States)

Wagenseil, Jessica E.; Mecham, Robert P.

2012-01-01

Large artery stiffness, as measured by pulse wave velocity (PWV), is correlated with high blood pressure and may be a causative factor in essential hypertension. The extracellular matrix components, specifically the mix of elastin and collagen in the vessel wall, determine the passive mechanical properties of the large arteries. Elastin is organized into elastic fibers in the wall during arterial development in a complex process that requires spatial and temporal coordination of numerous proteins. The elastic fibers last the lifetime of the organism, but are subject to proteolytic degradation and chemical alterations that change their mechanical properties. This review discusses how alterations in the amount, assembly, organization or chemical properties of the elastic fibers affect arterial stiffness and blood pressure. Strategies for encouraging or reversing alterations to the elastic fibers are addressed. Methods for determining the efficacy of these strategies, by measuring elastin amounts and arterial stiffness, are summarized. Therapies that have a direct effect on arterial stiffness through alterations to the elastic fibers in the wall may be an effective treatment for essential hypertension. PMID:22290157

Advanced damper with negative structural stiffness elements

International Nuclear Information System (INIS)

Dong, Liang; Lakes, Roderic S

2012-01-01

Negative stiffness is understood as the occurrence of a force in the same direction as the imposed deformation. Structures and composites with negative stiffness elements enable a large amplification in damping. It is shown in this work, using an experimental approach, that when a flexible flat-ends column is aligned in a post-buckled condition, a negative structural stiffness and large hysteresis (i.e., high damping) can be achieved provided the ends of the column undergo tilting from flat to edge contact. Stable axial dampers with initial modulus equivalent to that of the parent material and with enhanced damping were designed and built using constrained negative stiffness effects entailed by post-buckled press-fit flat-ends columns. Effective damping of approximately 1 and an effective stiffness–damping product of approximately 1.3 GPa were achieved in such stable axial dampers consisting of PMMA columns. This is a considerable improvement for this figure of merit (i.e., the stiffness–damping product), which generally cannot exceed 0.6 GPa for currently used damping layers. (paper)

Elevated vacuum suspension preserves residual-limb skin health in people with lower-limb amputation: Randomized clinical trial.

Science.gov (United States)

Rink, Cameron; Wernke, Matthew M; Powell, Heather M; Gynawali, Surya; Schroeder, Ryan M; Kim, Jayne Y; Denune, Jeffrey A; Gordillo, Gayle M; Colvin, James M; Sen, Chandan K

2016-01-01

A growing number of clinical trials and case reports support qualitative claims that use of an elevated vacuum suspension (EVS) prosthesis improves residual-limb health on the basis of self-reported questionnaires, clinical outcomes scales, and wound closure studies. Here, we report first efforts to quantitatively assess residual-limb circulation in response to EVS. Residual-limb skin health and perfusion of people with lower-limb amputation (N = 10) were assessed during a randomized crossover study comparing EVS with nonelevated vacuum suspension (control) over a 32 wk period using noninvasive probes (transepidermal water loss, laser speckle imaging, transcutaneous oxygen measurement) and functional hyperspectral imaging approaches. Regardless of the suspension system, prosthesis donning decreased perfusion in the residual limb under resting conditions. After 16 wk of use, EVS improved residual-limb oxygenation during treadmill walking. Likewise, prosthesis-induced reactive hyperemia was attenuated with EVS following 16 wk of use. Skin barrier function was preserved with EVS but disrupted after control socket use. Taken together, outcomes suggest chronic EVS use improves perfusion and preserves skin barrier function in people with lower-limb amputation. ClinicalTrials.gov; "Evaluation of limb health associated with a prosthetic vacuum socket system": NCT01839123; https://clinicaltrials.gov/ct2/show/NCT01839123?term=NCT01839123&rank=1.

Advanced upper limb prosthetic devices: implications for upper limb prosthetic rehabilitation.

Science.gov (United States)

Resnik, Linda; Meucci, Marissa R; Lieberman-Klinger, Shana; Fantini, Christopher; Kelty, Debra L; Disla, Roxanne; Sasson, Nicole

2012-04-01

The number of catastrophic injuries caused by improvised explosive devices in the Afghanistan and Iraq Wars has increased public, legislative, and research attention to upper limb amputation. The Department of Veterans Affairs (VA) has partnered with the Defense Advanced Research Projects Agency and DEKA Integrated Solutions to optimize the function of an advanced prosthetic arm system that will enable greater independence and function. In this special communication, we examine current practices in prosthetic rehabilitation including trends in adoption and use of prosthetic devices, financial considerations, and the role of rehabilitation team members in light of our experiences with a prototype advanced upper limb prosthesis during a VA study to optimize the device. We discuss key challenges in the adoption of advanced prosthetic technology and make recommendations for service provision and use of advanced upper limb prosthetics. Rates of prosthetic rejection are high among upper limb amputees. However, these rates may be reduced with sufficient training by a highly specialized, multidisciplinary team of clinicians, and a focus on patient education and empowerment throughout the rehabilitation process. There are significant challenges emerging that are unique to implementing the use of advanced upper limb prosthetic technology, and a lack of evidence to establish clinical guidelines regarding prosthetic prescription and treatment. Finally, we make recommendations for future research to aid in the identification of best practices and development of policy decisions regarding insurance coverage of prosthetic rehabilitation. Copyright © 2012 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

Systematic profiling of spatiotemporal tissue and cellular stiffness in the developing brain.

Science.gov (United States)

Iwashita, Misato; Kataoka, Noriyuki; Toida, Kazunori; Kosodo, Yoichi

2014-10-01

Accumulating evidence implicates the significance of the physical properties of the niche in influencing the behavior, growth and differentiation of stem cells. Among the physical properties, extracellular stiffness has been shown to have direct effects on fate determination in several cell types in vitro. However, little evidence exists concerning whether shifts in stiffness occur in vivo during tissue development. To address this question, we present a systematic strategy to evaluate the shift in stiffness in a developing tissue using the mouse embryonic cerebral cortex as an experimental model. We combined atomic force microscopy measurements of tissue and cellular stiffness with immunostaining of specific markers of neural differentiation to correlate the value of stiffness with the characteristic features of tissues and cells in the developing brain. We found that the stiffness of the ventricular and subventricular zones increases gradually during development. Furthermore, a peak in tissue stiffness appeared in the intermediate zone at E16.5. The stiffness of the cortical plate showed an initial increase but decreased at E18.5, although the cellular stiffness of neurons monotonically increased in association with the maturation of the microtubule cytoskeleton. These results indicate that tissue stiffness cannot be solely determined by the stiffness of the cells that constitute the tissue. Taken together, our method profiles the stiffness of living tissue and cells with defined characteristics and can therefore be utilized to further understand the role of stiffness as a physical factor that determines cell fate during the formation of the cerebral cortex and other tissues. © 2014. Published by The Company of Biologists Ltd.

Genomic features of human limb specific enhancers.

Science.gov (United States)

Ali, Shahid; Amina, Bibi; Anwar, Saneela; Minhas, Rashid; Parveen, Nazia; Nawaz, Uzma; Azam, Syed Sikandar; Abbasi, Amir Ali

2016-10-01

To elucidate important cellular and molecular interactions that regulate patterning and skeletal development, vertebrate limbs served as a model organ. A growing body of evidence from detailed studies on a subset of limb regulators like the HOXD cluster or SHH, reveals the importance of enhancers in limb related developmental and disease processes. Exploiting the recent genome-wide availability of functionally confirmed enhancer dataset, this study establishes regulatory interactions for dozens of human limb developmental genes. From these data, it appears that the long-range regulatory interactions are fairly common during limb development. This observation highlights the significance of chromosomal breaks/translocations in human limb deformities. Transcriptional factor (TF) analysis predicts that the differentiation of early nascent limb-bud into future territories entail distinct TF interaction networks. Conclusively, an important motivation for annotating the human limb specific regulatory networks is to pave way for the systematic exploration of their role in disease and evolution. Copyright © 2016. Published by Elsevier Inc.

Evaluating pulp stiffness from fibre bundles by ultrasound

Science.gov (United States)

Karppinen, Timo; Montonen, Risto; Määttänen, Marjo; Ekman, Axel; Myllys, Markko; Timonen, Jussi; Hæggström, Edward

2012-06-01

A non-destructive ultrasonic tester was developed to measure the stiffness of pulp bundles. The mechanical properties of pulp are important when estimating the behaviour of paper under stress. Currently available pulp tests are tedious and alter the fibres structurally and mechanically. The developed tester employs (933 ± 15) kHz tweezer-like ultrasonic transducers and time-of-flight measurement through (9.0 ± 2.5) mm long and (0.8 ± 0.1) mm thick fibre bundles kept at (19.1 ± 0.4) °C and (62 ± 1)% RH. We determined the stiffness of soft wood pulps produced by three kraft pulping modifications: standard kraft pulp, (5.2 ± 0.4) GPa, prehydrolysis kraft pulp, (4.3 ± 0.4) GPa, and alkali extracted prehydrolysis kraft pulp, (3.3 ± 0.4) GPa. Prehydrolysis and alkali extraction processes mainly lowered the hemicellulose content of the pulps, which essentially decreased the fibre-wall stiffness hence impairing the stiffness of the fibre networks. Our results indicate that the method allows ranking of pulps according to their stiffness determined from bundle-like samples taken at an early phase of the papermaking process.

A new variable stiffness suspension system: passive case

Directory of Open Access Journals (Sweden)

O. M. Anubi

2013-02-01

Full Text Available This paper presents the design, analysis, and experimental validation of the passive case of a variable stiffness suspension system. The central concept is based on a recently designed variable stiffness mechanism. It consists of a horizontal control strut and a vertical strut. The main idea is to vary the load transfer ratio by moving the location of the point of attachment of the vertical strut to the car body. This movement is controlled passively using the horizontal strut. The system is analyzed using an L2-gain analysis based on the concept of energy dissipation. The analyses, simulation, and experimental results show that the variable stiffness suspension achieves better performance than the constant stiffness counterpart. The performance criteria used are; ride comfort, characterized by the car body acceleration, suspension deflection, and road holding, characterized by tire deflection.

Limb myokymia

International Nuclear Information System (INIS)

Albers, J.W.; Allen, A.A.; Bastron, J.A.; Daube, J.R.

1981-01-01

Thirty-eight patients with myokymic discharges localized to limb muscles on needle electromyography had various neurologic lesions, both acute and chronic. Of the 38 patients, 27 had had previous radiation therapy and the clinical diagnosis of radiation-induced plexopathy, myelopathy, or both. For the remaining 11 patients, the diagnoses included multiple sclerosis, inflammatory polyradiculoneuropathy, ischemic neuropathy, inflammatory myopathy, and chronic disorders of the spinal cord and peripheral nerves. The clinical presentations and results of local ischemia, peripheral nerve block, and percutaneous stimulation suggest that most limb myokymic discharges arise focally at the site of a chronic peripheral nerve lesion

Ellis van creveld syndrome with unusual association of essential infantile esotropia

Directory of Open Access Journals (Sweden)

D Das

2010-01-01

Full Text Available Ellis-van Creveld syndrome is a rare short-limbed disproportionate dwarfism characterized by postaxial polydactyly, several skeletal, oral mucosal and dental anomalies, nail dysplasia and in 50-60% cases of congenital cardiac defects. It is an autosomal recessive disorder with mutations of the EVC1 and EVC2 genes located on chromosome 4p16. Patients with this syndrome usually have a high mortality in early life due to cardiorespiratory problems. We present the case of a six- month-old female infant with Ellis-van Creveld syndrome - essential infantile esotropia, which has been infrequently documented in the literature.

Association of Parental Hypertension With Arterial Stiffness in Nonhypertensive Offspring

DEFF Research Database (Denmark)

Andersson, Charlotte; Quiroz, Rene; Enserro, Danielle

2016-01-01

High arterial stiffness seems to be causally involved in the pathogenesis of hypertension. We tested the hypothesis that offspring of parents with hypertension may display higher arterial stiffness before clinically manifest hypertension, given that hypertension is a heritable condition. We compa......, in this community-based sample of young, nonhypertensive adults, we observed greater arterial stiffness in offspring of parents with hypertension. These observations are consistent with higher vascular stiffness at an early stage in the pathogenesis of hypertension.......High arterial stiffness seems to be causally involved in the pathogenesis of hypertension. We tested the hypothesis that offspring of parents with hypertension may display higher arterial stiffness before clinically manifest hypertension, given that hypertension is a heritable condition. We...... compared arterial tonometry measures in a sample of 1564 nonhypertensive Framingham Heart Study third-generation cohort participants (mean age: 38 years; 55% women) whose parents were enrolled in the Framingham Offspring Study. A total of 468, 715, and 381 participants had 0 (referent), 1, and 2 parents...

Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature

NARCIS (Netherlands)

Milosavljević, Doris; Overwater, Eline; Tamminga, Saskia; de Boer, Karin; Elting, Mariet W.; van Hoorn, Marion E.; Rinne, Tuula; Houweling, Arjan C.

2016-01-01

Mutations in RIT1, involved in the RAS-MAPK pathway, have recently been identified as a cause for Noonan syndrome. We present two patients with Noonan syndrome caused by a RIT1 mutation with novel phenotypic manifestations, severe bilateral lower limb lymphedema starting during puberty, and fetal