Anormalidades esqueléticas da síndrome tricorrinofalangiana tipo I / Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I

Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.

Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.

Ligament Preserving Technique for a Locked Metacarpophalangeal Joint of the Index Finger

BACKGROUND: Locking of metacarpophalangeal joint (MPJ) of the index finger occurs when volar radial osteophytes of the metacarpal head catch the accessory collateral ligament. We devised a ligament-preserving approach to quickly restore the MPJ motion while protecting the radial collateral ligament. METHODS: We retrospectively reviewed the results of nine patients treated for a locked MPJ of the index finger. In three patients, closed reduction was successful. In six cases, volar radial osteophytes were excised from the metacarpal head using a ligament-preserving technique through a longitudinal incision on the radial side. We analyzed osteophyte shape and height as demonstrated by X-ray and computed tomography (CT). Function was evaluated by examining the range of motion, recurrence, Disabilities of the Arm, Shoulder and Hand (DASH) score, and MPJ stability based on the key pinch strength. One male and eight female patients were followed for an average of 33 months (range, 12 to 65 months); the average age of patients was 41 years (range, 34 to 47 years). The average duration of locking of the MPJ was 23 days (range, 1 to 53 days). RESULTS: The sharp type of osteophytes was identified in six patients and the blunt type of osteophytes was indentified in three patients. The average height of radial osteophytes on the index finger metacarpal was 4.6 +/- 0.4 mm in the axial CT image. At the final follow-up, the average extension limitation decreased from 26degrees (range, 10degrees to 45degrees) to 0degrees, and further flexion increased from 83degrees (range, 80degrees to 90degrees) to 86degrees. There was no recurrent locking after surgery. The DASH score improved from 24.3 to 7.2. Key pinch strength improved from 67.3% to 90.4%. CONCLUSIONS: We obtained satisfactory outcomes in irreducible locking of the MPJ of the index finger by excising volar radial osteophytes of the metacarpal head using a ligament-preserving approach.

Ten Trigger Fingers in an Adult Man: A Case Report

Trigger finger is a common disease particularly in the middle aged women. A very rare case in which an adult man had 10 trigger fingers was experienced. He was treated with local steroid injections in both thumbs, but trigger finger disease has been aggravated in every digit of both hands. We performed an early operative treatment. Three months after the operation, the patient could perform his work without discomfort in his hands and showed normal range of motion in all fingers.

Cortical activation during finger tapping in thyroid dysfunction: a functional magnetic resonance imaging study.

Thyroid dysfunction is associated with attention deficit and impairment of the motor system (muscle weakness and fatigue). This paper investigates possible motor function deficit in thyroid patients,compared to the controls. Functional MRI studies (fMRI)were carried out in five hypo and five hyperthyroid patients and six healthy volunteers. Whole brain imaging was performed using echo planar imaging (EPI)technique, on a 1.5T whole body MR system (Siemens Magnetom Vision). The task paradigm consisted of 8 cycles of active and reference phases of 6 measurements each, with right index finger tapping at a rate of 120 taps/min. Post-processing was performed using statistical parametric mapping on a voxel-by-voxel basis using SPM99. Clusters of activation were found in the contralateral hemisphere in primary somatomotor area (M1), supplementary motor area (SMA), somatosensory,auditory receptive and integration areas, inferior temporal lobe, thalamus and cerebellum. Increased clusters of activation were observed in M1 in thyroid subjects as compared to controls and with bilateral activation of the primary motor cortex in two hyperthyroid patients. The results are explained in terms of increased functional demands in thyroid patients compared to volunteers for the execution of the same task.

Dynamic procedures for claw-finger correction--dilemma of balancing tension in transferred tendon slips.

The critical step in dynamic claw-finger correction procedures is adjustment of tension on the tendon slips which are being sutured at the new insertion sites to correct finger-clawing. Several methods to balance and adjust the tension have been described ever since these procedures have been in use. Ultimately it is the experience of the operating surgeon that helps to decide as to the tension that is to be kept on each slip so that maximum deformity correction is obtained without compromising the functional capabilities of the hand. An attempt has been made to describe this "experience" in words so that the surgeons who perform these corrective surgical procedures for the first time have some criteria to guide them.

Subclavian artery thrombosis--management with thrombolysis and angioplasty.

A case of acute thrombotic occlusion is presented in a chronically stenosed subclavian artery with subclavian steal phenomenon noted on colour Doppler study and angiography. Because of economic constraints, thrombolysis with angioplasty was done instead of stenting. The patient is on follow-up for the past one year showing considerable improvement. The present case report confirms the efficacy of angioplasty as a suitable option in patients, who cannot afford to have a stent.

Finger tapping activates spikes in benign epilepsy with centro-temporal spikes.

A case of benign epilepsy with centro-temporal spikes (BECT) is reported, in whom tapping of fingures activated typical spikes.

Two objective "archivable" tests for voluntary muscle testing in ulnar and median nerve paralysis.

Two tests are proposed for assessment of ulnar and median nerve function for use under field conditions: (i) "flap flexion" of fingers for ulnar nerve, and, (ii) tip-to-tip thumb opposition to the fourth finger for median nerve. These tests, which are a part of a series of simple clinical tests proposed for rapid neurological evaluation of the function of the nerves involved in leprosy, are simple, objective and easy to do. Because these tests depend on the strength of muscles tested, they might spare its direct assessment. In fact, it is difficult to assess and grade the strength of the little muscles of the hand and that is very much dependent on the examiner's own experience. Therefore, it is rather subjective. The tests described here may also be used for evaluating the results of corrective surgery of the hand. Whenever possible, making photographic records of these two tests, to be archived in the forms where everyone can see and compare them, seems to be easier and more objective than the subjective transcription of the feelings of an examiner assessing the strength of the small muscles of the hand. These two tests seem to be most objective for a scientific prospective study with a long term follow up. So, they could be used in assessing the results of leprosy neuritis by medical treatment, or, by medical treatment completed (when necessary only and not routinely) by surgical decompression of nerves and also of corrective surgery of claw hand, or, loss of opposition of the thumb.

Crossed intrinsic transfer for the treatment of ulnar drift in rheumatoid hand

This work was conducted at the University of Iowa Hospitals and clinics, USA. The study retrospectively evaluated 19 rheumatoid patients in whom crossed intrinsic transfer [CIT] had been performed. The patients were 14 women and 5 men with an average duration of preoperative disease of 10.6 years. The average age at operation was 52.5 years. Patients were followed in the outpatient clinics at regular intervals. The overall duration of follow-up averaged 5.8 years.CIT resulted in correction of ulnar drift from an average of 30 degrees preoperatively to 14 degrees postoperatively. Only 2% had recurrent ulnar drift of more than 20 degrees at the final follow-up. The addition of Extensor Carpi Radicals Longues to Exensor Carpi Ulnars [ECRL to ECU] transfer did not affect the effectiveness of CIT in correcting ulnar drift. The overall motion loss was significant only at the MP joint and averaged 18 degrees for the whole duration of follow-up. Analysis of motion data at different follow-up durations showed that significant deterioration in the active ROM of all joints started to occur at 5-10 years. It can he concluded that CIT results in significant long term correction of ulnar drift. Deterioration in the MP motion does occur but the MP are of motion remains within the functional range. This procedure should be done before joint dislocation or fixed contractures occur. Although not intended to replace arthroplasty where the articular surface is destroyed, early CIT prevents progressive deformity at the MP joint and may preclude the need for arthroplasty

Evolución de las fracturas cerradas de falange única en la mano, en trabajadores de la industria petrolera, tratadas conservadoramente / Retrospective assessment of closed fractures of one-phalanx of the hand treated conservatively in oil industry workers

Se efectuó una evaluación retrospectiva del tratamiento de las facultades cerradas de falange única de la mano, que se trataron en forma conservadora por medio de inmovilización con férulas. La factura más frecuente fue la de la falange distal con 66 casos (76 por ciento); la falange intermedia se fracturó en 11 casos (13 por ciento), y la proximal fue la menos frecuente con 10 casos (11 por ciento). El tratamiento aplicado fue por medio de férula palmar en la llamada posición funcional con flexión palmar del dedo afectado a 60,30 y 15 grados de las articulaciones MF, IFP e IFD respectivamente; el tratamiento fue el mismo para las tres falanjes, en promedio por 2.5 semanas para las falanges distal y media y 4.0 para la proximal. Se les aplicó posteriormente un período complementario de rehabilitación. Las fracturas de la falange distal fueron las que tuvieron mejor resultado, que fue excelente en el 95 por ciento de los casos, ya que su tratamiento es propiamente el de las partes blandas. En la presente serie los peores resultados se presentaron en la falange proximal, en la cual seis casos (54 por ciento) fueron regulares o malos, con tres para cada caso. Estos últimos tres casos con mal resultado fueron sometidos a amputación transmetacarpiana por razones médico-laborales. Se concluye que los malos resultados obtenidos en la presente serie fueron por aplicación inadecuada de un mismo tratamiento conservador para todos los casos y por la falta de un tratamiento quirúrgico cuando estuvo indicado.