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Mice lacking endogenous major histocompatibility complex class II develop arthritis resembling psoriatic arthritis at an advanced age.

OBJECTIVE: To describe and characterize a novel inflammatory toe disease with severe bone destruction that developed spontaneously in "humanized" (HLA transgenic) mice lacking their own major histocompatibility complex (MHC). METHODS: We studied 5 different HLA transgenic mouse lines (HLA-DR2.Ab(0), DR3.Ab(0), DR4.Ab(0), DQ6.Ab(0), and DQ8.Ab(0)) in similar genetic background for an extended period of time (>14 months). Clinical, radiologic, and histologic abnormalities were monitored, and the MHC-related major immunologic parameters in affected and resistant mice were compared. RESULTS: Animals of 4 transgenic lines (HLA-DR2.Ab(0), DR4.Ab(0), DQ6.Ab(0), and DQ8.Ab(0)) developed severe toe inflammation accompanied by progressive bone resorption, hyperkeratosis, alopecia, loss of nails, and shortening and thickening of the distal phalanges. HLA-DR3.Ab(0) transgenic mice were resistant to inflammation. The disease manifested only at advanced ages (6 months or older) and affected 70-100% of the mice, with a female preponderance. The clinical signs and the radiographic and histopathologic features of the affected toes were not similar to those of any disease previously described in mice but did resemble those described for human psoriatic arthritis (PsA). Mice from the 4 susceptible lines expressed lower levels of the HLA transgene and exhibited significantly fewer CD4+ cells in the peripheral blood and reduced natural killer cell activity compared with mice from the resistant HLA-DR3.Ab(0) line. CONCLUSION: This novel, spontaneously developing PsA-like toe disease in MHC-manipulated mice seems to be related to the absence of endogenous MHC class II. Replacement with HLA transgene expression that is insufficient (or no replacement at all) may result in imbalanced MHC class I and class II functions and lead to development of the disease.

Aging↗

Intrinsic muscle atrophy and toe deformity in the diabetic neuropathic foot: a magnetic resonance imaging study.

OBJECTIVE: The objectives of this study were to compare intrinsic foot muscle cross-sectional area (CSA) in patients with diabetic polyneuropathy and nondiabetic control subjects and to examine the association between intrinsic muscle CSA and clawing/hammering of the toes in neuropathic feet. RESEARCH DESIGN AND METHODS: High-resolution T2-weighted fast spin-echo images and parametric T2 multiple spin-echo images were acquired using multiple spin-echo magnetic resonance imaging (MRI) of frontal plane sections of the metatarsal region of the foot in a sample of eight individuals with diabetic polyneuropathy and eight age- and sex-matched nonneuropathic nondiabetic control subjects. The configuration of joints of the second toe was obtained using a three-dimensional contact digitizer. RESULTS: Remarkable atrophy was found in all the intrinsic muscles of neuropathic subjects as compared with nondiabetic control subjects. Quantitative T2 analysis showed a 73% decrease in muscle tissue CSA distally in the neuropathic subjects. Muscle comprised only 8.3 +/- 2.9% (means +/- SD) of total foot CSA compared with 30.8 +/- 3.9% in control subjects. No significant differences were found between the groups in the metatarso-phalangeal and proximal and distal interphalangeal joint angles of the second ray. Moreover, clawing/hammering of the toes was found in only two of eight neuropathic subjects. CONCLUSIONS: Although sensory neuropathy is often emphasized in considerations of diabetic foot pathology, our results show that the consequences of motor neuropathy in the feet are profound in people with diabetes. This has implications for foot function and may play a significant role in postural instability. However, intrinsic muscle atrophy does not necessarily appear to imply toe deformity.

Adult↗

[Phalangeal osteoid osteoma (13 cases)].

Thirteen cases of osteoid osteoma of the phalanxes are reported: 10 fingers and 3 toes. Any phalanx may be affected, with no preference for a particular site, in the young adult. Segmentary tumefaction of the soft parts near the lesion is a more consistent sign than pain, which is often quite minimal. Radiographies demonstrate the increase in the size of the phalanx, whose matrix is condensed. All radiographic techniques must be used to determine the exact location of the nidus, that is always very small (1 to 2 mm), and whose total removal is the only guarantee of cure.

Adolescent↗

Autosomal recessive multiple pterygium syndrome: a new variant?

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.

Abnormalities, Multiple↗

Late results of the Keller-Brandes operation for hallux valgus.

Evaluating the late results of the Keller-Brandes operation for hallux valgus in 100 feet on average 5.5 years after surgery, these were functionally and cosmetically satisfying to the patient in 90% of cases. In 97% pain was relieved completely or partially. On examination, however, 23% of the feet still had a clinical hallux valgus angle of more than 30 degrees. A dorsal extension-contracture which was found together with 50% or more of phalangeal resection was present in 6%. The power of plantar flexion of the big toe decreased with the extent of resection of the proximal phalanx. Resection of more than half of the proximal phalanx seems to be disadvantageous and should be avoided.

Adult↗

The role of low-profile titanium miniplates in emergency and elective hand surgery.

We report our experience of a low-profile mini-plating system in the treatment of fractures of the hand in 57 consecutive patients (five children and 52 adults). Thirteen procedures were performed electively, and 44 procedures were performed on an emergency basis. Indications for plating included fixation of metacarpal (36) and phalangeal (eight) fractures, bony fixation following rotation osteotomy (six) digital replantation (two) or free toe transfer (two). Seventeen patients had postoperative problems, including restricted range of motion (12), rotation deformity (two), significant cold intolerance (two) or fracture (two). Plate removal was required in seven patients, twice as a result of a second injury, and plate removal was unsuccessfully attempted in one other patient. Two patients required extensor tenolysis. We have found this system to be useful for bony fixation in the hand. However, as with other methods of internal fixation in the hand, there may be complications.

Adult↗

Anatomical and histological observations of fore- and hind limb toes in adult mice after amputations performed at the age of two weeks.

Amputation of fore- and hind limb toes in order to numerically identify mice, although an effective and conditionally accepted method, is an ethical issue because of the pain involved and because of the detrimental long term side effects that may be encountered. In transgenic mice sacrificed between the ages of 1 and 1-1/2 y, and in which toe amputations were performed at the age of 2 wk, we observed anatomical (n = 60) and histological (n = 10) changes in bones and soft tissues. In stumps, meduallary cavities of sectioned phalanges became sealed and, therefore, some regrowth must have occurred distal to the amputation plane. However, an important increase in width is seen in the diaphysis of transected bones (P < 0.001) when compared to normal phalanges. Normal epidermis-dermis reorganisation occurred in the stumps. Therefore, when considering solely detrimental long-term side effects related to bone growth and tissue reorganization, toe amputations to numerically identify mice seems an acceptable procedure.

Amputation, Surgical↗

A case of symbrachydactyly with oligodactyly.

The term symbrachydactyly describes syndactyly accompanied by brachydactyly. Brachydactyly is seen in middle phalanges of both hands and feet and very short in length or absent. As for syndactyly it is a cutaneous type. It has always been observed unilaterally and sporadically. A familial type of this syndrome has also been reported. There have been many classifications of symbrachydactyly. Of these, Blauth classification is the most favored one. Yet these classifications have been inadequate to include many recently discovered other forms of symbrachydactyly. A three month old child was brought to the Istanbul University Genetic Research Center because of his abnormal hands and feet. He was the second child of a couple who had no kinship ties to each other. In the history of the family, there was no mention of any anomaly as such. There was a complete syndactyly involving the 3rd through the 5th fingers, partial syndactyly between the 2nd and 3rd, and the thumb was normal in the right hand. There was only one finger in the left hand. There was total syndactyly in four toes of the right foot with oligodactyly and absence of the big toe. The left foot had five toes with a complete syndactyly between the 2nd and the 3rd. Radiological observation indicated that the middle phalanges of both extremities were rudimentary or never developed. There was no osseous syndactyly. As observed in this case, oligodactylous type that is bilateral and involves both hands and feet together is very unusual. The purpose of this study is to present a rare case of this anomaly that requires a reassessment of symbrachydactyly and its traditional classifications.

Fingers↗

Macrodactyly: report of eight cases of a rare anomaly.

Macrodactyly or megalodactyly is a rare anomaly of the extremities. Neural factors are involved in the etiology. Presented here are eight cases which comprise five macrodactylous toes and three fingers. The mean age at first referral was 6.8 years. Six patients underwent resection of the proximal phalanges together with bulk reduction of the soft tissue mass. Only soft tissue reduction was performed in the remaining two patients. Skin necrosis was observed in two cases, one of which necessitated amputation at the proximal interphalangeal joint level. The functional outcome was evaluated as poor with limited range of motion and stiffness in the joints. As far as functional results are concerned, macrodactylous toes had a better prognosis than that of fingers. It was concluded that none of the available methods as yet gives ideal functional and cosmetic results in macrodactyly.

Adolescent↗