RESUMEN
Context: We previously identified 2 Finnish families with dominantly inherited, low-turnover osteoporosis caused by mutations in WNT1 or PLS3. Objective, Design, and Setting: This prospective, longitudinal, uncontrolled study was undertaken to evaluate whether these patients respond to teriparatide. Patients and Intervention: We recruited 6 adults (median age, 54 years); 3 with a WNT1 missense mutation, c.652T>G, and 3 with a PLS3 splice mutation, c.73-24T>A, to receive teriparatide 20 µg daily for 24 months. Five patients had previously used bisphosphonates. Main Outcome Measures: Outcome measures included lumbar spine and hip bone mineral density (BMD) by dual-energy X-ray absorptiometry, distal radius peripheral quantitative computed tomography, spinal radiography, serum bone turnover markers, paired iliac crest biopsies. Results: All patients showed increases in formation markers procollagen type 1 amino-terminal propeptide (90% to 398%) and osteocalcin (50% to 280%) and in resorption markers cross-linked C-terminal telopeptide of type I collagen (58% to 457%) and tartrate-resistant acid phosphatase 5b (20% to 68%) in first 6 months. Lumbar spine BMD increased 5.2% to 7.9% in 5 patients and femoral neck BMD 2.6% to 7.8% in 4 patients in 24 months. Distal radius cortical volumetric BMD decreased 5.4% to 26.1%. In histomorphometric analyses, osteoid indices increased more consistently in patients with WNT1 vs PLS3 mutation. Eroded surface decreased 44% to 100% in all patients. Adipocyte number increased in 5 patients studied. Conclusions: Patients with WNT1 or PLS3 mutation-related osteoporosis responded to teriparatide treatment. Future studies are needed to evaluate whether observed changes translate to fracture resistance.
Asunto(s)
Conservadores de la Densidad Ósea/farmacología , Densidad Ósea , Remodelación Ósea , Glicoproteínas de Membrana/genética , Proteínas de Microfilamentos/genética , Osteoporosis/tratamiento farmacológico , Osteoporosis/genética , Teriparatido/farmacología , Proteína Wnt1/genética , Absorciometría de Fotón , Edad de Inicio , Anciano , Conservadores de la Densidad Ósea/administración & dosificación , Difosfonatos/uso terapéutico , Femenino , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Mutación , Mutación Missense , Osteoporosis/sangre , Osteoporosis/diagnóstico por imagen , Evaluación de Resultado en la Atención de Salud , Huesos Pélvicos/diagnóstico por imagen , Proyectos Piloto , Estudios Prospectivos , Radio (Anatomía)/diagnóstico por imagen , Teriparatido/administración & dosificación , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: There is little information about the range of motion (ROM) and strength of the affected upper limbs of patients with permanent brachial plexus birth palsy. PATIENTS AND METHODS: 107 patients who had brachial plexus surgery in Finland between 1971 and 1998 were investigated in this population-based, cross-sectional, 12-year follow-up study. During the follow-up, 59 patients underwent secondary procedures. ROM and isometric strength of the shoulders, elbows, wrists, and thumbs were measured. Ratios for ROM and strength between the affected and unaffected sides were calculated. RESULTS: 61 patients (57%) had no active shoulder external rotation (median 0° (-75-90)). Median active abduction was 90° (1-170). Shoulder external rotation strength of the affected side was diminished (median ratio 28% (0-83)). Active elbow extension deficiency was recorded in 82 patients (median 25° (5-80)). Elbow flexion strength of the affected side was uniformly impaired (median ratio 43% (0-79)). Median active extension of the wrist was 55° (-70-90). The median ratio of grip strength for the affected side vs. the unaffected side was 68% (0-121). Patients with total injury had poorer ROM and strength than those with C5-6 injury. Incongruity of the radiohumeral joint and avulsion were associated with poor strength values. INTERPRETATION: ROM and strength of affected upper limbs of patients with surgically treated brachial plexus birth palsy were reduced. Patients with avulsion injuries and/or consequent joint deformities fared worst.
Asunto(s)
Neuropatías del Plexo Braquial/cirugía , Parálisis Obstétrica/cirugía , Niño , Preescolar , Estudios Transversales , Articulación del Codo/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Contracción Isométrica , Masculino , Fuerza Muscular/fisiología , Rango del Movimiento Articular , Reoperación , Articulación del Hombro/fisiopatología , Resultado del Tratamiento , Articulación de la Muñeca/fisiopatologíaRESUMEN
PURPOSE: To prospectively evaluate the use and optimal timing of ultrasonographic (US) screening for posterior shoulder subluxation in infantswith brachial plexus birth injury (BPBI). MATERIALS AND METHODS: Approval of the ethics committee and informed consent of guardians was obtained. This population-based prospective study included neonates with BPBI who were born in Helsinki from January 1, 2003 through December 31, 2006, and in whom BPBI was verified with sequential clinical examinations. US was performed at 1, 3, 6, and 12 months. Size (width and height) of the humeral head and its ossification center and congruency of the shoulder (alpha angle) were measured. Frequency of BPBI and permanent changes were evaluated. This study also included patients who were referred from the tertiary catchment area. For statistical analysis, 95% confidence intervals were calculated, and analysis of variance was performed. RESULTS: BPBI was seen in 132 of 41980 neonates (3.1 per 1000). In 27 cases (0.64 per 1000), BPBI did not heal during the 1st year of life and was considered permanent. The humeral head and its ossification center were smaller on the affected side in permanent BPBI. Nine patients with permanent palsy had posterior subluxation of the humeral head depicted with US (alpha angle, >30 degrees ). In five patients, posterior subluxation [corrected] was detected at 3 months. Nineteen of 21 patients with BPBI from the tertiary catchment area had permanent palsy. Ten of 19 patients developed posterior subluxation of the shoulder, which was verified with US. Altogether, three of these cases were not detected by surgeons. Posterior subluxation of the humeral head developed during the 1st year of life in one-third of patients with permanent BPBI. In more than one-half (55% [five of nine]) of the patients, posterior subluxation [corrected] was detected with US at 3 months, and in 89% (eight of nine), it was detected at 6 months. CONCLUSION: US is a fast and useful tool for diagnosis of posterior subluxation of the humeral head, and examination of the glenohumeral joint should be performed at 3 and 6 months of age in infants with BPBI if symptoms persist.
Asunto(s)
Neuropatías del Plexo Braquial/complicaciones , Inestabilidad de la Articulación/diagnóstico por imagen , Luxación del Hombro/diagnóstico por imagen , Articulación del Hombro/diagnóstico por imagen , Análisis de Varianza , Femenino , Humanos , Lactante , Recién Nacido , Inestabilidad de la Articulación/fisiopatología , Masculino , Estudios Prospectivos , Luxación del Hombro/fisiopatología , Articulación del Hombro/fisiopatología , UltrasonografíaRESUMEN
Permanent brachial plexus birth palsy (BPBP) impairs the function of the affected upper limb. Avulsion type root injuries may damage the cervical spinal cord. Whether abnormal function of an upper limb affected by BPBP has any observable effects on the development of the locomotion system and overall motor function has not been clarified in depth. A total of 111 patients who had undergone brachial plexus surgery for BPBP in infancy were examined after a mean follow-up time of 13 (5-32) years. Patients' physical activities were recorded by a questionnaire. No significant inequalities in leg length were found and the incidence of structural scoliosis (1.7%) did not differ from that of the reference population. Nearly half of the patients (43%) had asynchronous motion of the upper limbs during gait, which was associated with impaired upper limb function. Data obtained from the completed questionnaires indicated that only few patients were unable to participate in normal activities such as: bicycling, cross-country skiing or swimming. Not surprisingly, 71% of the patients reported problems related to the affected upper limb, such as muscle weakness and/or joint stiffness during the aforementioned activities.
Asunto(s)
Traumatismos del Nacimiento/fisiopatología , Neuropatías del Plexo Braquial/fisiopatología , Extremidad Inferior/crecimiento & desarrollo , Columna Vertebral/crecimiento & desarrollo , Traumatismos del Nacimiento/complicaciones , Traumatismos del Nacimiento/cirugía , Neuropatías del Plexo Braquial/complicaciones , Neuropatías del Plexo Braquial/cirugía , Estudios Transversales , Evaluación de la Discapacidad , Femenino , Estudios de Seguimiento , Trastornos Neurológicos de la Marcha/etiología , Humanos , Lactante , Recién Nacido , Diferencia de Longitud de las Piernas/etiología , Extremidad Inferior/fisiología , Masculino , Debilidad Muscular/etiología , Debilidad Muscular/fisiopatología , Rango del Movimiento Articular , Escoliosis/etiología , Columna Vertebral/fisiología , Deportes , Encuestas y CuestionariosRESUMEN
BACKGROUND: The long-term results of surgical treatment of brachial plexus birth palsy have not been reported. We present the findings of a nationwide study, with a minimum five-year follow-up, of the outcomes of surgery for brachial plexus birth palsy in Finland. METHODS: Of 1,717,057 newborns, 1706 with brachial plexus birth palsy requiring hospital treatment were registered in Finland between 1971 and 1997. Of these patients, 124 (7.3%) underwent surgery on the brachial plexus at a mean age of 2.8 months (range, 0.4 to 13.2 months). The most commonly performed surgical procedure was direct neurorrhaphy after neuroma resection. One hundred and twelve patients (90%) returned for a clinical and radiographic follow-up examination after a mean of 13.3 years. Activities of daily living were recorded on a questionnaire, and the affected limb was assessed with use of joint-specific functional measures. RESULTS: Two-thirds (63%) of the patients were satisfied with the functional outcome, although one-third of all patients needed help in activities of daily living. One-third of the patients, including all nine with a clavicular nonunion from the surgical approach, experienced pain in the affected limb. All except four patients used the hand of the unaffected limb as the dominant hand. Shoulder function was moderate, with a mean Mallet score of 3.0. Both elbow and hand function were good, with a mean score on the Gilbert elbow scale of 3 and a mean Raimondi hand score of 4. Incongruence of the glenohumeral joint was noted in sixteen (16%) of the ninety-nine patients in whom it was assessed, and incongruence of the radiohumeral joint was noted in twenty-one (21%). The extent of the brachial plexus injury was found to be strongly associated with the final shoulder, elbow, and hand function in a multivariate analysis. CONCLUSIONS: Following surgical treatment of brachial plexus birth palsy, substantial numbers of the patients continued to need help performing activities of daily living and had pain in the affected limb, with the pain due to a clavicular nonunion in one-fourth of the patients. The strongest prognostic factor predicting outcome appears to be the extent of the primary plexus injury.
Asunto(s)
Neuropatías del Plexo Braquial/cirugía , Articulación del Codo/fisiopatología , Mano/fisiopatología , Dolor/epidemiología , Articulación del Hombro/fisiopatología , Actividades Cotidianas , Adolescente , Adulto , Neuropatías del Plexo Braquial/complicaciones , Niño , Preescolar , Evaluación de la Discapacidad , Finlandia , Estudios de Seguimiento , Humanos , Lactante , Inestabilidad de la Articulación/epidemiología , Dolor/etiología , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: Muscle pathology of the arm and forearm in brachial plexus birth injury (BPBI) with elbow flexion contracture has not been evaluated with MRI. OBJECTIVE: To determine whether limited range of motion of the elbow in BPBI is correlated with specific patterns of muscular pathology. MATERIALS AND METHODS: For 15 BPBI patients, total active motion (TAM) of the elbow (extension-flexion) and the forearm (pronation-supination) were measured. MRI of the elbow joints and musculature allowed assessment of elbow congruency. Fatty infiltration and size reduction of the muscles were graded semiquantitatively. RESULTS: Mean TAM of the elbow was 113 degrees (50 degrees-140 degrees) and that of the forearm 91 degrees (10 degrees-165 degrees). The greater the size reduction of the brachioradialis muscle, the more diminished was elbow TAM. The more extensive the BPBI and muscle pathology of the pronator teres muscle, the more limited was the TAM of the forearm. Pathology of the supinator and brachialis muscles was evident in every patient. CONCLUSION: Extensive BPBI may result in marked limitation of TAM. Elbow flexion contracture seems to be caused mainly by brachialis muscle pathology. Prosupination of the forearm is better preserved when the pronator teres is not severely affected. MRI can reliably show the extent of muscle pathology in BPBI.
Asunto(s)
Traumatismos del Nacimiento/diagnóstico , Neuropatías del Plexo Braquial/diagnóstico , Contractura/diagnóstico , Articulación del Codo/patología , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/patología , Enfermedades Musculares/diagnóstico , Adolescente , Traumatismos del Nacimiento/complicaciones , Neuropatías del Plexo Braquial/complicaciones , Niño , Preescolar , Articulación del Codo/inervación , Femenino , Humanos , Masculino , Músculo Esquelético/inervación , Enfermedades Musculares/etiologíaRESUMEN
PURPOSE: To evaluate rotator cuff muscles and the glenohumeral (GH) joint in brachial plexus birth injury (BPBI) using MRI and to determine whether any correlation exists between muscular abnormality and the development of glenoid dysplasia and GH joint incongruity. MATERIALS AND METHODS: Thirty-nine consecutive BPBI patients with internal rotation contracture or absent active external rotation of the shoulder joint were examined clinically and imaged with MRI. In the physical examination, passive external rotation was measured to evaluate internal rotation contracture. Both shoulders were imaged and the glenoscapular angle, percentage of humeral head anterior to the middle of the glenoid fossa (PHHA) and the greatest thickness of the subscapular, infraspinous and supraspinous muscles were measured. The muscle ratio between the affected side and the normal side was calculated to exclude age variation in the assessment of muscle atrophy. RESULTS: All muscles of the rotator cuff were atrophic, with the subscapular and infraspinous muscles being most severely affected. A correlation was found between the percentage of humeral head anterior to the middle of the glenoid fossa (PHHA) and the extent of subscapular muscle atrophy (r(s)=0.45, P=0.01), as well as between its ratio (r(s)=0.5, P P=0.01). Severity of rotator cuff muscle atrophy correlated with increased glenoid retroversion and the degree of internal rotation contracture. CONCLUSIONS: Glenoid retroversion and subluxation of the humeral head are common in patients with BPBI. All rotator cuff muscles are atrophic, especially the subscapular muscle. Muscle atrophy due to neurogenic damage apparently results in an imbalance of the shoulder muscles and progressive retroversion and subluxation of the GH joint, which in turn lead to internal rotation contracture and deformation of the joint.