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At least 1,189 records · Page 66Linked to original sources
PubMed1980

[Tricho-rhino-phalangeal syndrome. Four family cases].

The tricho-rhino-phalangeal syndrome was described in 1966 by Giedion. It is a hereditary disease with a dominant autosomic transmission. The authors describe a family with 7 cases, 4 of which were thoroughly studied. No chromosomic or biochemical error is known. However, x-rays of a young man in this family led us to classify this anomaly among the minor epiphyseal dysplasias related to the peripheral dysostosis of Braislford and clearly distinct Thieman's disease acquired by manual labor.

Abnormalities, Multiple↗
PubMed1994

[A proposal for a functional evaluation record for the hand].

Proposition of a new evaluation method included an analytic cotation, a functional cotation, and a cosmetic cotation. Use is speeded by the suppression of all kind of measure instrument and facilited by pictures. Application to the corporal damage evaluation.

Disability Evaluation↗
PubMed1994

A case of trichorhinophalangeal syndrome, type I.

A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.

Abnormalities, Multiple↗
PubMed1995

Pachydermodactyly: a case report.

Pachydermodactyly is an uncommon variant of digital fibromatosis that has previously been related to knuckle pads. It is a benign condition that needs no investigation for an underlying systemic disease. We present a new case of pachydermodactyly and comment on the available literature.

Adolescent↗
PubMed1993

Scintigraphic evaluation of tenosynovial giant-cell tumor using technetium-99m(V)-dimercaptosuccinic acid.

Technetium-99m(V) dimercaptosuccinic acid (DMSA) and 67Ga-citrate scintigraphy were performed in three patients with primary and recurrent tenosynovial giant-cell tumor (one localized type and two diffuse type). In all cases, 99mTc(V)DMSA showed marked accumulation in all primary and recurrent tumors; however, 67Ga-citrate showed no accumulation in any of the tumors. Technetium-99m(V)-DMSA scintigraphy was useful in detecting tenosynovial giant-cell tumor and in diagnosing recurrence of this tumor.

Adult↗
PubMed1993

[Development of multiple subcutaneous nodules in a patient with rheumatoid arthritis during methotrexate therapy].

A 59-year-old woman with a 14 years' history of seropositive nodular rheumatoid arthritis (RA) who developed multiple subcutaneous nodules during methotrexate therapy was reported. Weekly pulse methotrexate therapy (5-7.5 mg) was initiated in June, 1990 for exacerbation of RA. By January 1991 (total dose of methotrexate: ca 240-310 mg), marked clinical and laboratory improvements were observed. However, subcutaneous which were present prior to methotrexate administration, increased in number and size. The excised nodules showed typical histological features of rheumatoid nodules. The subcutaneous were also characterized by their presence in atypical locations such as the extensor surfaces of finger joints and toes. Recent reports which describe development of subcutaneous nodules and vasculitic lesions in RA patients following methotrexate therapy indicate different pathogenetic mechanisms might be involved in articular disease and nodular lesions.

Arthritis, Rheumatoid↗
PubMed1993

Soft-tissue injuries related to use of the computer keyboard. A clinical study of 53 severely injured persons.

We studied 53 disabled keyboard operators who complained of pain in the forearms, elbows, wrists, shoulders, and hands. Passive wrist flexion and dorsiflexion impairment to less than 70 degrees due to myofascial shortening associated with an increase in forearm muscle pain on palpation was a useful clinical indicator of injury. Isometric muscle testing was useful in detecting injury to specific muscles. Ligamentous hypermobility of finger joints (72%) and harmful inefficient keyboard styles (intrinsic ergonomic factors) were noted, videotaped, and analyzed. Changes in the workstation (extrinsic ergonomic factors) alone may not be adequate treatment. Individual intrinsic ergonomic factors must also be recognized, addressed, and corrected by a combination of physical therapy, conditioning, technique retraining, education, and counseling. A taxonomy of keyboard technique is proposed as an aid to recognizing potentially harmful postures.

Adult↗
PubMed1995

[Clinical observation on treatment of 40 cases of apoplexy hemiplegia complicated shoulder-hand syndrome with electro-acupuncture].

The authors treated 40 cases of shoulder-hand syndrome of apoplexy hemiplegia with electro-acupuncture (EA) and filiform needle acupuncture (FNA) respectively. The results showed that EA had better results in treating hand back swelling, hand skin temperature elevating and the bending finger caused pain than that with FNA (P < 0.05). The finger joint and shoulder joint improvement (the functional scoring increased for 3 points or more) in EA was also better than that of FNA (P < 0.05). The total marked effective rate was higher in EA group (75%) than that in FNA (50%), P < 0.05). It suggested that EA produced rhythmic muscle contraction which had a "shoulder-hand pump" like action, and is significant in eliminating hand back swelling and preventing atrophy of hand muscles.

Acupuncture Therapy↗
PubMedDate not supplied

Phenotypic features of dentition in diastrophic dysplasia.

Diastrophic dysplasia (DTD) is a well-characterized, recessively inherited osteochondrodysplasia. The gene, DTDST, in which mutations are responsible for the disease, codes for a sulphate transporter protein. We studied 53 patients with earlier diagnosed DTD for special characteristics in the oral region. Clinical examination included impressions of dental arches, oral photographs, and panoramic radiographs. Palatal clefting was recorded. Congenitally missing teeth were evaluated and dental maturity calculated from the panoramic radiographs. Tooth crown size and length and breadth of dental arches were measured from the casts. Dental anomalies and orthodontical status were evaluated from the casts and oral photographs. The level of oral hygiene was evaluated with caries (DMF) and periodontal (GBI) indices. Cleft palate was recorded in 56% and hypodontia (excluding third molars) in 31% of the patients. Dental age was retarded. Dental arches were narrow and tooth crown size was reduced. The observed crown size reduction could result from the same factors that cause cleft palate and/or hypodontia, or from a lack of sulfation in the developing dental papilla. The typical malocclusion traits were crowding, lateral crossbite, and open bite, which we assumed to result from reduced growth potential of the dental arches. Despite crowding and limited flexion of the finger joints leading to a severe handicap, the level of oral hygiene was high and no need for auxiliary equipment for cleaning the teeth was noted.

Adolescent↗
PubMed1997

[A case of amyopathic dermatomyositis associated with interstitial pneumonitis].

A patient (47-year old female) who had erythema similar to Gottron's sign on bilateral finger joints since two years ago, started to have polyarthralgia on bilateral knee and shoulder on the spring of 1993. Polyarthralgia was extended to both wrist and hand joints on Oct. of 1995. On the middle of Dec. 1995, she began to have exertional dyspnea and was referred and admitted in our hospital on 18th, Dec., 1995. Chest X-ray and CT scan showed the shadow for active interstitial pneumonitis on bilateral lower lung fields. Blood gas analysis indicated hypoxia (PaO2: 62.8 mmHg) and low % DLCO (64.7%). Skin eruption of face (heliotrope-like erythema) and hands (Gottron's sign) and skin biopsy (right hand) findings were compatible with that in dermatomyositis. The analysis in blood biochemistry showed no elevation for muscle enzymes. The diagnosis for amyopathic dermatomyositis (ADM) was made according to the criteria proposed by Euwer & Sontheimer (1993). The steroid pulse therapy and 50 mg per day of cyclophosphamide were immediately administered. The dyspnea and dermatitis were improved within two weeks after therapy. She is presently in remission until Jan. 1997 with the maintenance dosis of 10 mg per day of oral prednisolone.

Anti-Inflammatory Agents↗
PubMed1997

Dynamic skeletal fixation in the upper extremity.

Recent advances in the understanding of the biomechanics of the elbow and improvement in material designs have revolutionized the ability to treat difficult problems of the proximal interphalangeal and elbow joints. Dynamic skeletal fixation addresses the desire to allow an injured joint to heal, move, and remain stable simultaneously. In the past, such goals were achieved sequentially or in series. It is now possible to perform such tasks in parallel.

Contracture↗
PubMed1976

Dislocations of the upper extremity in children.

Traumatic dislocations and subluxations of the upper extremity in children have been surveyed. The elbow joint is most commonly dislocated and is dislocated more frequently in children than in adults. Severe neurovascular injury may be associated with dislocation of this joint. The most common subluxation is that of the radial head, secondary to a "pulled elbow." Otherwise dislocations and subluxations of the upper extremity are uncommon in children, apparently because of the relative weakness of the epiphyseal plate. Most of these injuries are the result of predictable indirect forces. Principles of reduction and immobilization are based on the unique anatomic structure of the joint involved and the known anatomic disruption resulting from the trauma.

Acromioclavicular Joint↗
PubMed1998

Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies.

Leber's congenital amaurosis (LCA), a type of congenital blindness, is clinically and genetically heterogeneous and often associated with systemic anomalies. We report on two sisters who were born to a consanguineous couple and had retinitis pigmentosa-like pigmented retinal lesions, alternating exotropia, bilateral cataracts, and anomalous coarse facies characterized by deformed skull with narrow forehead, low anterior hairline, hypertelorism, short philtrum, thin upper lip, and prominent jaw; cerebellar vermis hypoplasia; dilatation of the fourth ventricle; severe mental retardation; tremor; brisk deep tendon reflexes and abnormal behavior; and skeletal abnormalities such as limited extension of elbow and/ or finger joints and talipes equinovalgus. Skin defect and renal anomalies were seen in only one patient. Our patients are the first familial LCA associated with cerebellar vermis hypoplasia, and the disease involving particular multiple systemic anomalies may represent a distinct clinical entity.

Abnormalities, Multiple↗