Lower Extremity
Joint Deformities, Acquired
Foot Deformities, Acquired
Upper Extremity
Hand Deformities, Acquired
Foot Deformities, Congenital
Characterization of the porcine CDKN3 gene as a potential candidate for congenital splay leg in piglets. (1/34)
Congenital splay leg is a hereditary disease observed in newborn piglets. The etiology and pathogenetic mechanism of the disorder are still unknown. The gene for cyclin-dependent protein kinase inhibitor 3 (CDKN3) was identified as a potential candidate gene in a differential display experiment. We analyzed the gene on sequence variations and compared its expression in M. biceps femoris between healthy and affected piglets. Comparative sequencing of the coding region of three healthy and four splay leg piglets revealed twelve single nucleotide polymorphisms (SNP) resulting in six amino acid exchanges in the deduced sequences. However, all polymorphisms were observed in healthy as well as in splay leg piglets thus excluding structural differences of the gene as a cause of the disease. Besides full length transcripts, we found a variety of aberrantly transcribed cDNA in clones derived from M. biceps femoris of healthy as well as of splay leg piglets. All alternative transcripts coexist with normal cDNA. Expression analysis revealed a trend towards higher values in M. biceps femoris of splay leg piglets supporting the results obtained from a differential display. (+info)Knockout of ERK5 causes multiple defects in placental and embryonic development. (2/34)
BACKGROUND: ERK5 is a member of the mitogen activated protein kinase family activated by certain mitogenic or stressful stimuli in cells, but whose physiological role is largely unclear. RESULTS: To help determine the function of ERK5 we have used gene targeting to inactivate this gene in mice. Here we report that ERK5 knockout mice die at approximately E10.5. In situ hybridisation for ERK5, and its upstream activator MKK5, showed strong expression in the head and trunk of the embryo at this stage of development. Between E9.5 and E10.5, multiple developmental problems are seen in the ERK5-/- embryos, including an increase in apoptosis in the cephalic mesenchyme tissue, abnormalities in the hind gut, as well as problems in vascular remodelling, cardiac development and placental defects. CONCLUSION: Erk5 is essential for early embryonic development, and is required for normal development of the vascular system and cell survival. (+info)Axial correction of pes varus by transverse-opening wedge osteotomy and T-plate fixation with beta-tricalcium phosphate (beta-TCP) transplantation in dachshunds. (3/34)
Axial correction was performed surgically in two miniature dachshunds presenting with lateral patellar dislocation and limping caused by pes varus. Pes varus had resulted from asymmetric closure of the physis of the distal tibia. Prior to surgery, osteotomy was simulated by measuring X-ray films to determine the distance required for the wedge opening. Transverse-opening wedge osteotomy was performed on the medial side of the distal tibia, and beta-tricalcium phosphate (beta-TCP) was inserted in a wedge shape into the area created by the cuneiform osteotomy. Finally, the tibia was fixed by a veterinary 1.5/2.0-mm T-plate. Both dogs were able to walk a few days after surgery, and the lateral dislocation of the patella normalized almost completely in about one month. At two months, X-ray films showed that the implant had remained in position without any dislocation, and the beta-TCP had fused with the surrounding bone. (+info)Skeletal pathology in white storks (Ciconia ciconia) associated with heavy metal contamination in southwestern Spain. (4/34)
In 1998, a mine tailings dyke in southwestern Spain broke, flooding the Agrio-Guadiamar river system with acid tailings up to the borders of one of the largest breeding colonies of white storks in the western Palearctic, Dehesa de Abajo. Over the following years, a high proportion of nestlings developed leg defects, prompting this study. Ten fledglings with leg deformities from the spill area were compared with 11 normal storks of the same year class from another region far from the spill. However, metals were analyzed as a continuum rather than by site, as reference birds also contained high levels of metals. Gross pathology of the legs was supported by histopathology, which showed that bone remodeling activity was greater in the deformed storks, which also had more irregular subperiosteal bone, and tended to have higher residual islets of cartilage in their metaphyses, which, in turn were related to metal contaminant residues. Both Ca and P in bone were affected independently by metals. Deformed birds had lower serum bone alkaline phosphatase. Bone malformations, measured by leg asymmetry, was only partially explained by bone metals, indicating that a combination of factors was involved with the abnormal development in these young storks. (+info)A new classification for idiopathic genu vara. (5/34)
PURPOSE: Past classification for the treatment of idiopathic genu vara depended simply on the measurement of distance between the knees, without attention to the rotational profile of the lower extremity. We retrospectively analyzed anatomical causes of idiopathic genu vara. PATIENTS AND METHODS: Twenty eight patients with idiopathic genu vara were included in this study. All patients were surgically treated. To evaluate the angular deformity, a standing orthoroentgenogram was taken and the lateral distal femoral angle and the medial proximal tibial angle were measured. In order to assess any accompanying torsional deformity, both femoral anteversion and tibial external rotation were measured using computerized tomographic scans. A derotational osteotomy was performed at the femur or tibia to correct rotational deformity, and a correctional osteotomy was performed at the tibia to correct angular deformity. RESULTS: Satisfactory functional results were obtained in all cases. Genu vara was divided into 3 groups according to the nature of the deformity; group 1 (6 patients) with increased femoral anteversion, group 2 (10 patients) with proximal tibial varus deformity alone, and group 3 (12 patients) with proximal tibial varus deformity accompanied by increased external tibial rotation. CONCLUSION: The success seen in our cases highlights the importance of an accurate preoperative analysis that accounts for both rotational and angular deformities that may underlie idiopathic genu vara. (+info)Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. (6/34)
Gap junction channels are required for normal cardiac impulse propagation, and gap junction remodeling is associated with enhanced arrhythmic risk. Oculodentodigital dysplasia (ODDD) is a multisystem syndrome due to mutations in the connexin43 (Cx43) gap junction channel gene. To determine the effects of a human connexin channelopathy on cardiac electrophysiology and arrhythmogenesis, we generated a murine model of ODDD by introducing the disease-causing I130T mutant allele into the mouse genome. Cx43 abundance was markedly reduced in mutant hearts with preferential loss of phosphorylated forms that interfered with trafficking and assembly of gap junctions in the junctional membrane. Dual whole-cell patch-clamp studies showed significantly lower junctional conductance between neonatal cell pairs from mutant hearts, and optical mapping of isolated-perfused hearts with voltage-sensitive dyes demonstrated significant slowing of conduction velocity. Programmed electrical stimulation revealed a markedly increased susceptibility to spontaneous and inducible ventricular tachyarrhythmias. In summary, our data demonstrate that the I130T mutation interferes with Cx43 posttranslational processing, resulting in diminished cell-cell coupling, slowing of impulse propagation, and a proarrhythmic substrate. (+info)Pediatric deformity correction using a multiaxial correction fixator. (7/34)
(+info)Deformity correction in children with hereditary hypophosphatemic rickets. (8/34)
(+info)Congenital Lower Extremity Deformities refer to abnormal structures or development in the lower limbs (including thighs, legs, and feet) that are present at birth. These deformities can vary greatly in severity, from mild differences in shape or position to severe defects that significantly limit mobility or function.
Congenital lower extremity deformities can be caused by genetic factors, environmental influences during pregnancy, or a combination of both. Some common examples include:
1. Congenital Talipes Equinovarus (Clubfoot): A deformity where the foot is turned inward and downward at birth.
2. Developmental Dysplasia of the Hip (DDH): A condition where the hip joint does not form properly, leading to instability or dislocation.
3. Congenital Femoral Deficiency: A rare condition where there is a deficiency or absence of the femur (thigh bone) or abnormal development of the hip joint.
4. Fibular Hemimelia: A congenital absence or shortening of the fibula bone, which can lead to foot and ankle deformities.
5. Tibial Hemimelia: A rare condition where there is a partial or complete absence of the tibia bone, leading to significant leg length discrepancies and joint instability.
Treatment for congenital lower extremity deformities can range from non-surgical interventions such as bracing, casting, or physical therapy to surgical procedures aimed at correcting the deformity and improving function.
Congenital Upper Extremity Deformities refer to physical abnormalities or malformations of the upper limb (arm, elbow, forearm, wrist, and hand) that are present at birth. These deformities can vary greatly in severity, complexity, and impact on function and appearance. They may result from genetic factors, environmental influences, or a combination of both during fetal development. Examples of congenital upper extremity deformities include:
1. Radial club hand: A condition where the radius bone in the forearm is underdeveloped or absent, causing the hand to turn outward and the wrist to bend inward.
2. Club foot of the arm: Also known as congenital vertical talus, this deformity affects the ankle and foot, causing them to point upwards. In the upper extremity, it can lead to limited mobility and function.
3. Polydactyly: The presence of extra fingers or toes, which can be fully formed or rudimentary.
4. Syndactyly: Fusion or webbing of fingers or toes.
5. Radial longitudinal deficiency: A spectrum of radial ray anomalies that includes radial club hand and other associated malformations.
6. Ulnar longitudinal deficiency: Underdevelopment or absence of the ulna bone, which can lead to deformities in the forearm, wrist, and hand.
7. Amniotic band syndrome: A condition where fibrous bands in the amniotic sac entangle and restrict the growth of fetal parts, including the upper limbs.
8. Cleidocranial dysplasia: A genetic disorder characterized by underdeveloped or absent collarbones, delayed closing of the skull bones, and other skeletal abnormalities, including shortened or deformed upper extremities.
9. Arthrogryposis: A group of conditions characterized by joint contractures and stiffness, which can affect any part of the body, including the upper extremities.
Treatment for congenital upper extremity deformities typically involves a combination of surgical interventions, physical therapy, bracing, or prosthetics to improve function, appearance, and quality of life.
The term "lower extremity" is used in the medical field to refer to the portion of the human body that includes the structures below the hip joint. This includes the thigh, lower leg, ankle, and foot. The lower extremities are responsible for weight-bearing and locomotion, allowing individuals to stand, walk, run, and jump. They contain many important structures such as bones, muscles, tendons, ligaments, nerves, and blood vessels.
Acquired joint deformities refer to structural changes in the alignment and shape of a joint that develop after birth, due to various causes such as injury, disease, or wear and tear. These deformities can affect the function and mobility of the joint, causing pain, stiffness, and limited range of motion. Examples of conditions that can lead to acquired joint deformities include arthritis, infection, trauma, and nerve damage. Treatment may involve medication, physical therapy, or surgery to correct the deformity and alleviate symptoms.
Acquired foot deformities refer to structural abnormalities of the foot that develop after birth, as opposed to congenital foot deformities which are present at birth. These deformities can result from various factors such as trauma, injury, infection, neurological conditions, or complications from a medical condition like diabetes or arthritis.
Examples of acquired foot deformities include:
1. Hammertoe - A deformity where the toe bends downward at the middle joint, resembling a hammer.
2. Claw toe - A more severe form of hammertoe where the toe also curls under, forming a claw-like shape.
3. Mallet toe - A condition where the end joint of a toe is bent downward, causing it to resemble a mallet.
4. Bunions - A bony bump that forms on the inside of the foot at the big toe joint, often causing pain and difficulty wearing shoes.
5. Tailor's bunion (bunionette) - A similar condition to a bunion, but it occurs on the outside of the foot near the little toe joint.
6. Charcot foot - A severe deformity that can occur in people with diabetes or other neurological conditions, characterized by the collapse and dislocation of joints in the foot.
7. Cavus foot - A condition where the arch of the foot is excessively high, causing instability and increasing the risk of ankle injuries.
8. Flatfoot (pes planus) - A deformity where the arch of the foot collapses, leading to pain and difficulty walking.
9. Pronation deformities - Abnormal rotation or tilting of the foot, often causing instability and increasing the risk of injury.
Treatment for acquired foot deformities varies depending on the severity and underlying cause but may include orthotics, physical therapy, medication, or surgery.
In medical terms, the leg refers to the lower portion of the human body that extends from the knee down to the foot. It includes the thigh (femur), lower leg (tibia and fibula), foot, and ankle. The leg is primarily responsible for supporting the body's weight and enabling movements such as standing, walking, running, and jumping.
The leg contains several important structures, including bones, muscles, tendons, ligaments, blood vessels, nerves, and joints. These structures work together to provide stability, support, and mobility to the lower extremity. Common medical conditions that can affect the leg include fractures, sprains, strains, infections, peripheral artery disease, and neurological disorders.
The term "upper extremity" is used in the medical field to refer to the portion of the upper limb that extends from the shoulder to the hand. This includes the arm, elbow, forearm, wrist, and hand. The upper extremity is responsible for various functions such as reaching, grasping, and manipulating objects, making it an essential part of a person's daily activities.
Acquired hand deformities refer to structural changes in the hand or fingers that occur after birth, as a result of injury, illness, or other external factors. These deformities can affect any part of the hand, including the bones, joints, muscles, tendons, ligaments, and nerves. Common causes of acquired hand deformities include trauma, infection, degenerative diseases such as arthritis, tumors, and neurological conditions.
The symptoms of acquired hand deformities can vary depending on the severity and location of the deformity. They may include pain, stiffness, swelling, decreased range of motion, loss of function, and changes in appearance. Treatment for acquired hand deformities may involve a combination of medical interventions, such as medication, physical therapy, or splinting, as well as surgical procedures to correct the underlying structural problem. The goal of treatment is to relieve symptoms, improve function, and restore normal appearance and movement to the hand.
The term "extremities" in a medical context refers to the most distant parts of the body, including the hands and feet (both fingers and toes), as well as the arms and legs. These are the farthest parts from the torso and head. Medical professionals may examine a patient's extremities for various reasons, such as checking circulation, assessing nerve function, or looking for injuries or abnormalities.
Leg injuries refer to damages or harm caused to any part of the lower extremity, including the bones, muscles, tendons, ligaments, blood vessels, and other soft tissues. These injuries can result from various causes such as trauma, overuse, or degenerative conditions. Common leg injuries include fractures, dislocations, sprains, strains, contusions, and cuts. Symptoms may include pain, swelling, bruising, stiffness, weakness, or difficulty walking. The specific treatment for a leg injury depends on the type and severity of the injury.
Amputation is defined as the surgical removal of all or part of a limb or extremity such as an arm, leg, foot, hand, toe, or finger. This procedure is typically performed to remove damaged or dead tissue due to various reasons like severe injury, infection, tumors, or chronic conditions that impair circulation, such as diabetes or peripheral arterial disease. The goal of amputation is to alleviate pain, prevent further complications, and improve the patient's quality of life. Following the surgery, patients may require rehabilitation and prosthetic devices to help them adapt to their new physical condition.
Congenital foot deformities refer to abnormal structural changes in the foot that are present at birth. These deformities can vary from mild to severe and may affect the shape, position, or function of one or both feet. Common examples include clubfoot (talipes equinovarus), congenital vertical talus, and cavus foot. Congenital foot deformities can be caused by genetic factors, environmental influences during fetal development, or a combination of both. Treatment options may include stretching, casting, surgery, or a combination of these approaches, depending on the severity and type of the deformity.
Acquired nose deformities refer to structural changes or abnormalities in the shape of the nose that occur after birth, as opposed to congenital deformities which are present at birth. These deformities can result from various factors such as trauma, injury, infection, tumors, or surgical procedures. Depending on the severity and cause of the deformity, it may affect both the aesthetic appearance and functionality of the nose, potentially causing difficulty in breathing, sinus problems, or sleep apnea. Treatment options for acquired nose deformities may include minimally invasive procedures, such as fillers or laser surgery, or more extensive surgical interventions, such as rhinoplasty or septoplasty, to restore both form and function to the nose.
The lower extremity, also known as the lower limb, consists of the bones that make up the leg and foot. In humans, these bones include:
1. Femur: This is the thigh bone, and it is the longest and strongest bone in the human body.
2. Patella: Also known as the kneecap, this is a small triangular bone located at the front of the knee joint.
3. Tibia: This is the larger of the two bones in the lower leg, also known as the shin bone.
4. Fibula: This is the smaller of the two bones in the lower leg, located on the lateral side of the tibia.
5. Tarsal bones: These are seven small bones located in the foot, which articulate with the tibia and fibula to form the ankle joint.
6. Metatarsal bones: These are five long bones located in the midfoot, which connect to the phalanges (toes) at one end and the tarsal bones at the other.
7. Phalanges: These are fourteen small bones located in the toes, similar in structure to the phalanges in the fingers of the hand.
Together, these bones provide support, stability, and mobility to the lower extremity, allowing for activities such as walking, running, and jumping.