Dual mutation (MTHFR A1298C with PAI (4G) mutation) manifesting with bilateral lower limb gangrene in a neonate

Neonates are at highest risk of thrombosis among paediatric patients. The relative prothrombotic state in a well neonate is compensated by other factors preventing spontaneous thrombosis; however, in a neonate with genetic predisposition, the balance is tilted predisposing them to a life-threatening thrombotic episode. We describe a rare case of methylenetetrahydrofolate reductase A1298C (homozygous) mutation along with plasminogen activator inhibitor (4G) mutation in a neonate who developed bilateral lower limb gangrene following thrombosis of the iliac vessels without any triggering factor. The neonate underwent thrombectomy as debulking measure along with thrombolytic therapy followed by unfractionated heparin and low-molecular-weight heparin which is still being continued along with oral aspirin. The neonate had to undergo amputation of both the involved lower limbs in view of dry gangrene. This case highlights that the dual mutations causing the prothrombotic state predispose the individual to the spontaneous life-threatening thrombotic episode as compared with the single mutation.

Download Full-text

Sensitivity of the Toe Height to Multijoint Angular Changes in the Lower Limbs During Unobstructed and Obstructed Gait

Journal of Applied Biomechanics ◽

10.1123/jab.2020-0217 ◽

2020 ◽

pp. 1-9

Author(s):

Chuyi Cui ◽

Brittney Muir ◽

Shirley Rietdyk ◽

Jeffrey Haddad ◽

Richard van Emmerik ◽

...

Keyword(s):

Young Adults ◽

Lower Limb ◽

Sagittal Plane ◽

Frontal Plane ◽

Singular Value ◽

Lower Limbs ◽

Joint Angles ◽

Adult Lifespan ◽

Main Contributor ◽

Bilateral Lower Limb

Tripping while walking is a main contributor to falls across the adult lifespan. Trip risk is proportional to variability in toe clearance. To determine the sources of this variability, the authors computed for 10 young adults the sensitivity of toe clearance to 10 bilateral lower limb joint angles during unobstructed and obstructed walking when the lead and the trail limb crossed the obstacle. The authors computed a novel measure—singular value of the appropriate Jacobian—as the combined toe clearance sensitivity to 4 groups of angles: all sagittal and all frontal plane angles and all swing and all stance limb angles. Toe clearance was most sensitive to the stance hip ab/adduction for unobstructed gait. For obstructed gait, sensitivity to other joints increased and matched the sensitivity to stance hip ab/adduction. Combined sensitivities revealed critical information that was not evident in the sensitivities to individual angles. The combined sensitivity to stance limb angles was 84% higher than swing limb angles. The combined sensitivity to the sagittal plane angles was lower than the sensitivity to the frontal plane angles during unobstructed gait, and this relation was reversed during obstacle crossing. The results highlight the importance of the stance limb joints and indicate that frontal plane angles should not be ignored.

Download Full-text

Multiorgan thromboembolic shower and its ethical implications

BMJ Case Reports ◽

10.1136/bcr-2020-238580 ◽

2021 ◽

Vol 14 (2) ◽

pp. e238580

Author(s):

Amedra Basgaran ◽

Sayani Khara ◽

Aravinth Sivagnanaratnam

Keyword(s):

Lower Limb ◽

Arterial Occlusion ◽

Kidney Injury ◽

Lower Limbs ◽

Limb Ischaemia ◽

Ethical Implications ◽

Ct Angiogram ◽

Bilateral Lower Limb ◽

St Elevation ◽

Full Body

A 54 year-old man was admitted after being found on the floor of his home, thought to have been there for approximately 5 days. He was diagnosed with a non-ST elevation myocardial infarction and bilateral cerebral ischaemic infarcts, as well as an acute kidney injury driven by rhabdomyolysis. The following day, bilateral lower limb ischaemia was observed. A full body CT angiogram revealed a complete thromboembolic shower with bilateral arterial occlusion in the lower limbs, bilateral pulmonary emboli, a splenic infarct and mesenteric ischaemia. An echocardiogram revealed a large thrombus in the left ventricle as the likely thromboembolic source. Bilateral lower limb amputations were recommended, commencing a complex discussion regarding the best course of management for this patient. The discussion was multifaceted, owing to the patient’s lack of capacity, and input from multiple teams and the patient’s relatives was required. Both ethical and clinical challenges arise from this case of a thromboembolic shower.

Download Full-text

Trichotillomania and Dermatitis Artefacta: A Rare Coexistence

Case Reports in Psychiatry ◽

10.1155/2012/674136 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3

Author(s):

Neeraj Varyani ◽

Sunny Garg ◽

Garima Gupta ◽

Shivendra Singh ◽

Kamlakar Tripathi

Keyword(s):

Blood Pressure ◽

Conservative Management ◽

Lower Limb ◽

Skin Lesions ◽

The Body ◽

Lower Limbs ◽

Dermatitis Artefacta ◽

Bilateral Lower Limb ◽

Pedal Edema

A 24-year-old pregnant female patient presented with complains of bilateral lower limb swelling and fever for 1 month. On examination, blood pressure was 144/94 mmHg along with pitting pedal edema. She had bizarre skin lesions, aligned longitudinally and distributed over the approachable site of the body with tapering ends and in various stages of healing. Lower limbs examination also revealed similar lesions with signs of cellulitis. Her scalp had short and distorted hair suggesting pulling and plucking. These skin lesions and the denial of self-infliction by the patient made us reach the diagnosis of dermatitis artefacta with trichotillomania. Psychotherapy was advocated along with conservative management of skin lesions. The patient improved and is under our follow up.

Download Full-text

Effect of lower limb dominance on walking adaptations in young adults when stepping into a hole

Brazilian Journal of Motor Behavior ◽

10.20338/bjmb.v13i5.141 ◽

2020 ◽

Vol 13 (5) ◽

pp. 133-143

Author(s):

Luciana Oliveira Dos Santos ◽

Andréia Abud da Silva Costa ◽

Renato Moraes

Keyword(s):

Young Adults ◽

Lower Limb ◽

The Other ◽

Lower Limbs ◽

Normal Walking ◽

Other Hand ◽

The Individual ◽

Limb Dominance

Background. Depending on the dimensions of a hole, the characteristics of the walking surface, and the position of the hole relative to normal walking, individuals may need to step into the hole with the dominant or non-dominant limb. Aim. We investigated the effect of the lower limb dominance in walking adaptations in the presence of a hole on the ground. Methods: Twenty young adults walked and stepped into a hole positioned in the middle of the pathway using the dominant and non-dominant lower limbs. Results. For the trailing limb, the impulses were not affected by the lower limb dominance, but for the leading limb, the non-dominant leg increased the braking and propulsive impulses compared to the dominant leg. On the other hand, toe-off velocity increased when the non-dominant leg was used as trailing and leading limbs. Stride speed increased when the non-dominant leg was the trailing limb. Interpretation. Our results were consistent with asymmetrical behavior between dominant and non-dominant legs. Although the differences between the dominant and non-dominant legs have not affected the success in the task, they can put the individual at higher risk of stumbling and consequently a fall when stepping with the non-dominant leg into the hole.

Download Full-text

Acute Aortic Occlusion with Acute Onset of Paraplegia and Severe Hyposthenia

Radiology and Medical Diagnostic Imaging ◽

10.31487/j.rdi.2020.02.03 ◽

2020 ◽

pp. 1-3

Author(s):

Stefania Tamburrini ◽

Daniela Viola ◽

Fabio Spinetti ◽

Giuseppe Mercogliano ◽

Giuseppe Sarti ◽

...

Keyword(s):

Lower Limb ◽

Mesenteric Artery ◽

Limb Ischemia ◽

Acute Onset ◽

Lower Limbs ◽

Motor Deficit ◽

Acute Limb Ischemia ◽

Neurological Assessment ◽

Bilateral Lower Limb ◽

Acute Aortic Occlusion

A 75-years-old man presented at our ED with acute onset of paraplegia and severe bilateral lower limb hyposthenia. The patient ‘s neurological assessment was negative except for lower limbs positive Mingazzini test. CT angiography detected a complete lack of opacification of the abdominal aorta immediately below the emergency of the inferior mesenteric artery, caused by a coarse thrombus in the left ventricle. We present a case of acute aortic and lumbar arteries thrombosis with paraplegia and no clear symptoms of acute limb ischemia, in which the motor deficit in the lower extremities was explained by anterior spinal cord syndrome secondary to acute occlusion of lumbar arteries.

Download Full-text

Optimal Combination of Minimum Degrees of Freedom to be Actuated in the Lower Limbs to Facilitate Arm-Free Paraplegic Standing

Journal of Biomechanical Engineering ◽

10.1115/1.2800767 ◽

2007 ◽

Vol 129 (6) ◽

pp. 838-847 ◽

Cited By ~ 12

Author(s):

Joon-young Kim ◽

James K. Mills ◽

Albert H. Vette ◽

Milos R. Popovic

Keyword(s):

Lower Limb ◽

Degrees Of Freedom ◽

Three Dimensional ◽

Optimal Combination ◽

Lower Limbs ◽

Free Standing ◽

Joint Torques ◽

Flexion Extension ◽

Hip Abduction ◽

The Individual

Arm-free paraplegic standing via functional electrical stimulation (FES) has drawn much attention in the biomechanical field as it might allow a paraplegic to stand and simultaneously use both arms to perform daily activities. However, current FES systems for standing require that the individual actively regulates balance using one or both arms, thus limiting the practical use of these systems. The purpose of the present study was to show that actuating only six out of 12 degrees of freedom (12-DOFs) in the lower limbs to allow paraplegics to stand freely is theoretically feasible with respect to multibody stability and physiological torque limitations of the lower limb DOF. Specifically, the goal was to determine the optimal combination of the minimum DOF that can be realistically actuated using FES while ensuring stability and able-bodied kinematics during perturbed arm-free standing. The human body was represented by a three-dimensional dynamics model with 12-DOFs in the lower limbs. Nakamura’s method (Nakamura, Y., and Ghodoussi, U., 1989, “Dynamics Computation of Closed-Link Robot Mechanisms With Nonredundant and Redundant Actuators,” IEEE Trans. Rob. Autom., 5(3), pp. 294–302) was applied to estimate the joint torques of the system using experimental motion data from four healthy subjects. The torques were estimated by applying our previous finding that only 6 (6-DOFs) out of 12-DOFs in the lower limbs need to be actuated to facilitate stable standing. Furthermore, it was shown that six cases of 6-DOFs exist, which facilitate stable standing. In order to characterize each of these cases in terms of the torque generation patterns and to identify a potential optimal 6-DOF combination, the joint torques during perturbations in eight different directions were estimated for all six cases of 6-DOFs. The results suggest that the actuation of both ankle flexion∕extension, both knee flexion∕extension, one hip flexion∕extension, and one hip abduction∕adduction DOF will result in the minimum torque requirements to regulate balance during perturbed standing. To facilitate unsupported FES-assisted standing, it is sufficient to actuate only 6-DOFs. An optimal combination of 6-DOFs exists, for which this system can generate able-bodied kinematics while requiring lower limb joint torques that are producible using contemporary FES technology. These findings suggest that FES-assisted arm-free standing of paraplegics is theoretically feasible, even when limited by the fact that muscles actuating specific DOFs are often denervated or difficult to access.

Download Full-text

Lateralidad de miembro inferior y su relación con la distribución de las presiones plantares en el equilibrio estático (Laterality of lower limbs and relationship with the plantar pressure distribution in the static balance)

Retos ◽

10.47197/retos.v0i20.34615 ◽

2015 ◽

pp. 5-8

Author(s):

Carmen Mayolas Pi ◽

Adoración Villarroya Aparicio ◽

Joaquín Reverter Masia

Keyword(s):

Lower Limb ◽

Dynamic Balance ◽

Lower Limbs ◽

Static Balance ◽

Lateral Preference ◽

Plantar Pressures ◽

Left Limb ◽

The Individual ◽

The Right ◽

Sole Of The Foot

La distribución de las cargas durante la marcha se ha valorado en muchos estudios, en algunos de los cuales se ha observado la influencia de la lateralidad del individuo en esta distribución. Sin embargo, en estático se han realizado pocos estudios que valoran las posibles causas de una distribución no equitativa de las cargas, algunos según la visión o no del espacio colindante y según la influencia de la lateralidad visual. En nuestro estudio vamos a observar si influye la preferencia lateral del miembro inferior en la distribución de la carga en la planta del pie, utilizando tres pruebas para valorar la dominancia lateral: chute con precisión, equilibrio dinámico y equilibrio estático (Maupas y cols., 2002). Según nuestros resultados, la preferencia lateral de miembro inferior no influye de forma significativa en la distribución de las cargas en la planta del pie, sin embargo, observamos una tendencia a que aumente la carga del miembro izquierdo en los diestros (según las pruebas de equilibrio dinámico y chute con precisión) y en el miembro derecho en los zurdos.Palabra clave: lateralidad, presiones plantares, equilibrio estático, test lateralidad.Abstract: The distribution of loads during gait has been evaluated in many studies, some of which have been seen to influence the handedness of the individual in this distribution. However, in the static pool, several studies have been carried out which assess the possible causes of inequitable distribution of the charges, some according to the vision or adjoining space and according to influence of visual laterality. In our study we will observe the influence of the lateral lower limb preference in the distribution of the load on the sole of the foot, using three tests to assess the lateral dominance: shoot with precision, dynamic balance and static balance (Maupas et al. 2002). According to our results, lower limb lateral preference does not influence significantly the distribution of charges in the sole of the foot, however, we observe a tendency to increase the load/weight on the left limb in righthanded people (according to tests of balance dynamic and precision shot) and on the right limb in left handed people.Key words: laterality, plantar pressures, static balance, laterality test.

Download Full-text

Daily step count of British military males with bilateral lower limb amputations: A comparison of in-patient rehabilitation with the consecutive leave period between admissions

Prosthetics and Orthotics International ◽

10.1177/0309364618806058 ◽

2018 ◽

Vol 43 (2) ◽

pp. 188-195 ◽

Cited By ~ 1

Author(s):

Kate Sherman ◽

Andrew Roberts ◽

Kevin Murray ◽

Sarah Deans ◽

Hannah Jarvis

Keyword(s):

Lower Limb ◽

Step Count ◽

Medical Rehabilitation ◽

Functional Health ◽

Limb Amputation ◽

Daily Step ◽

Rehabilitation Centre ◽

Daily Step Count ◽

Bilateral Lower Limb ◽

The Individual

Background: Reduced function and health in individuals with lower limb amputation is well documented. Step count measurement could facilitate rehabilitation and help monitor functional health outcomes. Objectives: To determine whether mean daily step count changed between in-patient rehabilitation and consecutive leave periods. Study Design: Observational study. Methods: Nine individuals with bilateral traumatic amputations attending rehabilitation at the Defence Medical Rehabilitation Centre during a 4-month period were invited to participate in the study (two bilateral transfemoral, two bilateral transfemoral/knee disarticulation, two transfemoral/transtibial, one bilateral transfemoral plus transradial, one bilateral transfemoral plus transhumeral and one transfemoral/transtibial/transradial). Prostheses worn by each participant were fitted with an activity monitor (LAM2TM; PAL Technologies Ltd, Glasgow). Mean daily step count was analysed for each participant following 2 weeks in-patient rehabilitation and consecutive 2 weeks away from rehabilitation. Results: Nine participants completed the study (time since injury: 19 ± 7 months, age: 26 ± 6 years). Mean daily step count significantly decreased from 2258 ± 192 during in-patient rehabilitation to 1387 ± 363 at home ( p < 0.01). Conclusion: The step count decreased when away from rehabilitation, confirming the hypothesis that the mean daily step count would change between in-patient rehabilitation and consecutive leave period. Clinical relevance These data provide an indication of the step count achievable by young, military male personnel with bilateral lower limb amputations and highlights differences between intensive in-patient rehabilitation and consecutive leave periods. It is suggested that further investigation and support of clinical monitoring could facilitate rehabilitation tailored to the individual.

Download Full-text

Bilateral Acute Lower Limb Ischemia Secondary to COVID-19

Vascular and Endovascular Surgery ◽

10.1177/1538574420954301 ◽

2020 ◽

pp. 153857442095430

Author(s):

Sowmya Veerasuri ◽

Sachin R. Kulkarni ◽

William R. Wilson ◽

Sharath C. V. Paravastu

Keyword(s):

Lower Limb ◽

Arterial Thrombosis ◽

Care Setting ◽

Limb Ischemia ◽

Intensive Care Setting ◽

Prothrombotic State ◽

Principal Finding ◽

Bilateral Lower Limb ◽

Peripheral Arterial ◽

Thrombotic Tendency

COVID-19 has to date affected over 5 million people worldwide and caused in excess of 300000 deaths. One of the principal finding is that of a thrombotic tendency within the lungs leading to high mortality. There have been increasing number of reports of peripheral arterial thrombosis as well. Most cases of arterial thrombosis is noted in patient in intensive care setting. Here-in we report a case of acute bilateral lower limb arterial thrombosis in a patient recovering at home with mild COVID-19 symptoms, highlighting that patients with milder symptoms may also suffer from prothrombotic state resulting in acute arterial occlusions. Arterial thrombosis should be suspected in these patients despite the absence of predisposing factors.

Download Full-text

Cable-Driven Parallel Manipulator for Lower Limb Rehabilitation

Applied Mechanics and Materials ◽

10.4028/www.scientific.net/amm.459.535 ◽

2013 ◽

Vol 459 ◽

pp. 535-542 ◽

Cited By ~ 8

Author(s):

Rogério Sales Gonçalves ◽

João Carlos Mendes Carvalho ◽

Lucas Antonio Oliveira Rodrigues ◽

André Marques Barbosa

Keyword(s):

Lower Limb ◽

Parallel Manipulator ◽

Experimental Tests ◽

Lower Limbs ◽

Human Gait ◽

Parallel Structure ◽

Robotic Devices ◽

The Individual ◽

Limb Rehabilitation ◽

Lower Limb Rehabilitation

The development of robotic devices to apply in the rehabilitation process of human lower limbs is justified by the large number of people with lower limb problems due to stroke and/or accidents. Thus, this paper presents a cable-driven parallel manipulator for lower limb rehabilitation which is composed by a fixed base and a mobile platform that can be connected to one cable at most six and can performing the movement of human gait and the individual movements of the hip, the knee and the ankle. This paper starts with a study of the basic movements of the lower limb. Then the kinetostatic and force analysis were presented. The graphical simulation and experimental tests of the cable-driven parallel structure for lower limb rehabilitation movements are presented showing the viability of the proposed structure.

Download Full-text