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Biomedical subjects

Charles A Goldfarb

Publications and source records attributed to Charles A Goldfarb.

At least 19 recordsLinked to original sources

Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3.

We identified a family where five members had nonsyndromic ectrodactyly. There were three known instances of nonpenetrance. Although four individuals had unilateral cleft hand, one individual had more severe, bilateral and asymmetric absence of the digits. None had foot abnormalities. After exclusion of linkage of SHFM in this family to five known loci, a genome wide scan was performed with DNA from 5 affected and 15 unaffected members of this family. Suggestive evidence for linkage of ectrodactyly to 8q was obtained on the basis of a maximum LOD score of 2.54 at theta (max) = 0 with GAAT1A4. Critical recombinants place the ectrodactyly gene in this family in a 16 cM (21 Mb) interval between D8S1143 and D8S556. Mutational analysis of two candidate genes (FZD6, GDF6) did not identify any mutations in affected members of this family. Our data indicate further genetic heterogeneity for ectrodactyly and suggest the presence of an additional SHFM locus in chromosome region 8q21.11-q22.3.

Chromosomes, Human, Pair 8↗

Rheumatoid arthritis: silicone metacarpophalangeal joint arthroplasty indications, technique, and outcomes.

Silicone implant arthroplasty has been used for more than 40 years for severe rheumatoid disease at the metacarpophalangeal (MCP) joint. Multiple investigations have shown that silicone arthroplasty places the MCP joint in a more extended posture, with some improvement in the total arc of motion. Ulnar drift is also improved, but strength and other objective measures have not demonstrated marked changes postoperatively. The lack of prospective data and more complete outcome assessment has been, at least in part, responsible for the marked difference in opinions between rheumatologists and hand surgeons on the effectiveness of MCP arthroplasty. Recent reports using patient-centered outcome measures have shown that early outcome is favorable, with improvements in appearance, pain, and function.

Arthritis, Rheumatoid↗

Use of routine histologic evaluation of carpal ganglions.

PURPOSE: Although histologic evaluation is performed routinely on tissue removed during the excision of carpal ganglions, the necessity of this evaluation is uncertain. We evaluated the use of routine histologic evaluation of excised carpal ganglions and performed a cost-benefit analysis. METHODS: A retrospective review identified 160 consecutive carpal ganglion (102 dorsal, 58 volar) excisions performed over the past 7 years by 2 surgeons. The preoperative evaluation, surgical findings, and results of the pathologic assessment were evaluated for patients treated with a typical carpal ganglion excision. RESULTS: In 156 of 160 patients the preoperative and intraoperative data were highly suggestive of a carpal ganglion; the pathology reports confirmed the diagnosis in all of these patients. No new information was provided by pathologic assessment. In 4 patients the preoperative and intraoperative assessments were less certain; the pathologic assessments in these patients also were equivocal. No malignancy or condition requiring additional treatment was identified. At our institution the total cost of pathologic evaluation for a carpal ganglion including processing and interpretation fees is $352. CONCLUSIONS: Routine histologic examination of excised dorsal and volar carpal ganglions may be unnecessary if the preoperative and intraoperative evaluations are consistent with a diagnosis of carpal ganglion. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic, Level IV.

Biopsy↗

Fifteen-year outcome of displaced intra-articular fractures of the distal radius.

PURPOSE: We previously reported the functional and radiographic outcomes of 21 young adults at an average of 7 years after open reduction and internal fixation of an intra-articular distal radius fracture (original study). The purpose of the current investigation was to evaluate the same cohort at an average of 15 years after surgery to evaluate the effect of additional time on both function and radiographic appearance. METHODS: We re-evaluated 16 of the original patients at an average of 15 years after surgery. Subjective assessment was performed with the Musculoskeletal Functional Assessment and the Hand Function Sort questionnaires. Objective assessment included a detailed physical examination and strength measurement. Standardized radiographs and computed tomography were used to assess wrist morphology, residual articular step and gap displacement, and the presence and degree of arthrosis. RESULTS: Subjectively patients continued to function at a high level at the last follow-up evaluation: the average Musculoskeletal Functional Assessment score was 10 and 14 of the 16 patients functioned at a high level according to the Hand Function Sort. Strength and range of motion remained essentially unchanged from the original report. Radiocarpal arthrosis was noted in 13 of the 16 wrists and joint space was reduced an additional 67% compared with the 7-year follow-up evaluation. Nonetheless there continued to be no correlation between the presence or degree of arthrosis and upper-extremity function. CONCLUSIONS: Radiocarpal arthrosis after intra-articular distal radius fractures can be expected to worsen over time. Despite joint space narrowing and evidence of advanced arthrosis, however, patients maintained a high level of function at the long-term follow-up evaluation. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic, Level II.

Activities of Daily Living↗

Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions.

PURPOSE: Radial longitudinal deficiency (RLD) is associated with certain syndromes and medical and musculoskeletal conditions. The purpose of this investigation was to evaluate the incidence of these conditions with RLD. METHODS: A comprehensive chart review identified patients with RLD and a complete medical record. These charts were evaluated for the presence of associated medical and musculoskeletal conditions and biographic information on gestation, delivery, and family history. RESULTS: A total of 164 patients with 245 affected extremities were identified; 138 patients had radius abnormalities and 26 patients had isolated thumb hypoplasia. Twenty-five patients had thrombocytopenia absent radius syndrome; 22 patients had vertebral, anal, cardiac, tracheoesophageal, renal, and limb abnormalities association; 7 patients had Holt-Oram syndrome; and 1 patient had Fanconi anemia. There were 32 patients with cardiac abnormalities and 60 patients with spinal or lower-extremity musculoskeletal abnormalities. The percentage of patients with associated abnormalities increased with an increasing severity of RLD. One hundred two of the 138 patients with types I through V RLD had associated medical or musculoskeletal abnormalities. In contrast, only 9 of 26 patients with an isolated thumb hypoplasia (type 0 RLD) had associated abnormalities. CONCLUSIONS: The high incidence of associated medical and musculoskeletal abnormalities in patients with RLD emphasizes the importance of a complete assessment including a complete musculoskeletal examination, cardiac auscultation, complete blood count, echocardiogram, renal ultrasound, and spinal radiographs. Although approximately one third of patients in this investigation had a syndrome commonly associated with RLD, most patients with RLD types I through V had an additional medical or musculoskeletal anomaly. Patients with type 0 RLD were less likely to have comorbidities.

Congenital Abnormalities↗

Pyrolytic carbon arthroplasty for posttraumatic arthritis of the proximal interphalangeal joint.

PURPOSE: To prospectively evaluate the subjective and objective functional outcome of patients treated with a pyrolytic carbon proximal interphalangeal (PIP) joint arthroplasty for posttraumatic arthritis. METHODS: Five patients (7 joints) with traumatic injuries to the PIP joint were followed up for more than 1 year after pyrolytic carbon arthroplasty. All patients were treated with surgical reduction and stabilization at the time of the initial injury, but at a minimum of 6 months after the initial injury they had persistent pain, loss of motion, and functional limitations. All patients had a stable PIP joint with a satisfactory extensor mechanism but had radiographic evidence of posttraumatic arthritis. Patients were evaluated before and after arthroplasty with the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire and visual analog scale and by radiographic and physical examination. RESULTS: At an average of 17 months, the mean DASH questionnaire score was unchanged. The pain rating on the visual analog scale was 6 out of 10 before surgery and 4 out of 10 after surgery; this change was not statistically significant. The average range of motion of the PIP joint decreased by 10 degrees at the last evaluation. Grip strength improved from an average of 47 lb to 63 lb after surgery. CONCLUSIONS: The subjective and objective functional outcomes in 5 patients more than 1 year after pyrolytic carbon PIP joint arthroplasty for PIP joint trauma were disappointing. For posttraumatic patients, we no longer use pyrolytic carbon PIP joint arthroplasty.

Adult↗

A prospective evaluation of patients with isolated orthopedic injuries transferred to a level I trauma center.

PURPOSE: To assess the indications for, the demographics of, and the appropriateness of patient transfers for orthopedic injuries to a level I trauma center. MATERIALS AND METHODS: All patients with isolated orthopedic trauma transferred to our level I trauma center (N = 128) by means of a physician-to-physician referral line during the call period of two surgeons were prospectively evaluated between January 1, 2004 and December 31, 2004. The specific indication for transfer, the specialty of the referring physician, the patient diagnosis, the perceived need for tertiary care referral (as assessed by a visual analog scale [VAS] based on the phone conversation with the transferring physician), and patient insurance status were obtained before the transfer. On patient arrival, each of these factors was reassessed for later comparison. RESULTS: The transferring physician was an emergency department physician in 88 cases (69%), an orthopedic surgeon in 32 cases (25%), and an internist in the other eight cases (6%). In the 77 cases in which we could confirm the presence of an on-call orthopedist, the patient was examined by the orthopedic surgeon before being transferred in only 32 (42%) cases. In 98 cases (76%), the stated indication for transfer was that the case was too complex for care at the referring hospital or that there was a need for a subspecialist. There was no significant difference in pre- versus post-transfer case complexity as assessed by the VAS (P > 0.05). Although the reported insurance data before transfer was inaccurate in 34 patients (27%), the overall payer mixes reported before and after transfers were similar (23% Medicare, 20% HMO/PPO, 14% workers' compensation, 12% uninsured, 5% Medicaid). The insurance type for the transferred patients as a whole was not significantly different from the non-transferred patients treated by our orthopedic trauma service during the same time period (P > 0.05). Twenty transferred patients had a low VAS complexity score (<5), suggesting that their injuries did not necessarily require tertiary care. Fifteen of these 20 had Medicaid, Medicare, or no insurance. This was a significantly different (worse) payer mix than for the typical transferred patient (P < 0.05). CONCLUSIONS: The need for an increased level of care was the predominant stated reason for patient transfer to our level I trauma center. Nonetheless, the orthopedic surgeon on call did not always examine the patient before transfer. Additionally, patients transferred who had a low level of complexity (those believed not to necessarily require tertiary care) had an insurance status that was worse than that of the typical transferred patient.

Adult↗

Reconstruction of radial polydactyly.

The spectrum that encompasses radial polydactyly can be categorized by the Wassel classification. Reconstruction of radial polydactyly depends on the size and quality of each of the thumbs. Most commonly, the ulnar thumb is larger and is maintained, whereas the smaller radial thumb is excised. In a Wassel type 4, after the redundant thumb is excised, the remaining thumb is centralized and aligned, and the radial collateral ligament of the maintained thumb is reconstructed. Other types of radial polydactyly are more complicated and require more complex reconstructions.

Humans↗

Nerve decompression for complex regional pain syndrome type II following upper extremity surgery.

PURPOSE: To evaluate the results of nerve decompression for the symptoms of complex regional pain syndrome that developed after upper-extremity surgery. METHODS: Eight patients (5 men, 3 women) developed worsening severe pain, swelling, and loss of range of motion after an upper-extremity surgery. The diagnosis of complex regional pain syndrome was made at an average of 6 weeks (range, 1-10 weeks) after the surgical procedure. A clinical diagnosis of either median or combined median and ulnar nerve compression at the wrist was confirmed in all patients with electrophysiologic testing. Nerve decompression was performed at a mean of 13 weeks after the procedure. Subjective (Disabilities of the Arm, Shoulder, and Hand questionnaire; visual analog pain scale) and objective (forearm, wrist, and finger range of motion; grip strength) data from before and after nerve decompression were reviewed. RESULTS: The average score on the Disabilities of the Arm, Shoulder, and Hand questionnaire decreased from 71 to 30 (p < .05). The mean visual analog pain score decreased from 7.5 to 1.8. (p < .05) There was immediate and near-complete resolution of all somatic complaints including hypersensitivity to touch, hyperhydrosis, swelling, and cold sensitivity. Range of motion and grip strength improved. CONCLUSIONS: Traditionally surgical treatment has been avoided in patients with complex regional pain syndrome; however, in the setting of clinical and electrophysiologic evidence of nerve compression surgical intervention may hasten recovery in these patients.

Aged↗

Normative values for thumb length, girth, and width in the pediatric population.

PURPOSE: To determine the normal relative length, girth, and nail width of the pediatric thumb with respect to the index finger in children ages 1 through 18 years. METHODS: Measurements of relative thumb length, girth, and nail width were performed on 546 hands in 273 volunteers ages 1 through 18 years. At least 22 hands were included for each age group. The data were analyzed by age, gender, and hand, with the thumb compared with the index finger for all measurements. RESULTS: The adducted thumb tip reached an average of 70% of the length of the index finger proximal phalanx and 32% of the length of the index finger from the metacarpophalangeal joint to its tip. The thumb girth and nail width as a percentage of corresponding levels of the index finger girth and nail width were 133% and 105%, respectively. Relative thumb size remained constant with no significant difference in length, width, or girth between age groups. CONCLUSIONS: The relative size of the thumb remains constant during growth. These normative data will allow a more objective assessment of thumb size and appearance.

Abstracting and Indexing↗

A retrospective review of the management of Dupuytren's nodules.

PURPOSE: To evaluate the progression of Depuytren's nodules with more than 6 years of follow-up study. METHODS: Fifty-nine patients who presented initially with Dupuytren's nodules returned for physical examination at an average follow-up period of 8.7 years (range, 6-15 y). Patients were questioned regarding family history of Dupuytren's disease, family ethnicity, alcohol consumption, smoking, liver disease, seizures, diabetes, and signs of systemic disease such as knuckle pads and plantar nodules. Physical examination evaluated disease state, loss of extension of the finger joints, and disease location. RESULTS: Thirty of the 59 patients with previously diagnosed isolated nodules developed a cord. Twenty-two percent of patients presented with bilateral disease and another 26% developed bilateral disease. Of those patients whose disease progressed 43% had European heritage, 37% had disease onset before the age of 50 years, 30% had bilateral disease, 23% had a family history of Dupuytren's disease, and 13% had plantar nodules. Five patients lost extension averaging 60 degrees at the metacarpophalangeal joint and 40 degrees at the proximal interphalangeal joint. Three of these 5 had surgical excision because they had a flexion contracture of the metacarpophalangeal or proximal interphalangeal joints averaging 60 degrees and 43 degrees , respectively. Another 7 patients did not meet standard criteria but had surgery for persistent pain associated with grasping objects (without contracture). All surgically treated patients had at least 1 risk factor and 7 patients had more than 1 risk factor. In 7 patients the Dupuytren's nodule had resolved at the time of follow-up evaluation. CONCLUSIONS: The progression of the nodular form of Dupuytren's disease to cord-like disease is common but not inevitable. This evaluation of Dupuytren's nodules has shown that at an average of 8.7 years after diagnosis 5 patients met standard surgical criteria of metacarpophalangeal contracture of greater than 30 degrees or any proximal interphalangeal contracture. Age of onset (before 50 years) is correlated most closely with disease progression, and the disease regressed in 7 patients (12%).

Adolescent↗

Type 0 ulnar longitudinal deficiency.

PURPOSE: To describe the characteristics of type 0 ulnar longitudinal deficiency (ULD) in which deficiencies are present in the hand and carpus without involvement of the forearm or elbow. METHODS: A retrospective chart, radiograph, and clinical photograph review (1960-2005) of patients previously diagnosed with ectrodactyly, hand hypoplasia, or ULD was performed to evaluate for a diagnosis of ULD isolated to the hand. RESULTS: Thirteen extremities were identified. Three extremities had complete absence of the small-finger ray (phalanges and metacarpal) and 6 extremities had complete absence of the ring- and small-finger rays. Four hands showed hypoplasia of the small finger, 3 in conjunction with a ring- and small-metacarpal synostosis and 1 in isolation. Three extremities also had radial-sided hypoplasia or aplasia of the rays. Additional common findings included simple syndactyly, delta phalanx, and carpal fusions, most commonly of the capitohamate joint. CONCLUSIONS: Patients with isolated ulnar-sided hand deficiency such as ectrodactyly of the ring and/or small fingers or synostosis of the small metacarpal of the ring finger in the presence of a normal forearm may be diagnosed as having type 0 ULD. We propose that type 0 be added to the current classification systems for ULD representing those extremities with deficiencies isolated to the hand.

Female↗

Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

BACKGROUND: In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. METHODS: The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). RESULTS: Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral focal deficiency, were common in those patients. Eleven limbs in ten patients were identified as having severe combined dysplasia, which was type A in seven of them and type B in four. Four patients with severe combined dysplasia had congenital cardiac anomalies, and four had associated musculoskeletal abnormalities. Three of the four patients with the type-B disorder had a contralateral ulnar longitudinal dysplasia. CONCLUSIONS: We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.

Child↗

Palmar midcarpal instability: the results of treatment with 4-corner arthrodesis.

PURPOSE: Palmar midcarpal instability (PMCI) is one type of nondissociative carpal instability. The optimal treatment for PMCI is uncertain. The purpose of this investigation was to evaluate the results of capitate-lunate-triquetrum-hamate (4-corner) arthrodesis for PMCI. METHODS: Over a 10-year period 8 patients were treated with 4-corner arthrodesis for PMCI. The instability was diagnosed clinically and confirmed with cineradiography. The symptomatic instability began in all patients after a notable trauma; 6 of the patients were injured at work and 2 were injured in a motor vehicle accident. Patients were evaluated at an average of 34 months after surgery. RESULTS: Seven of the 8 patients were satisfied with the surgery and 6 of 8 patients had no pain or mild pain. Both patients injured in motor vehicle accidents returned to all preinjury activities. Four of the 6 workers' compensation patients returned to work, 3 at full duty and 1 in a restricted position. Two patients, both with workers' compensation, did not return to their pre-injury jobs. One had occasional moderate pain and the other had chronic pain. The average wrist flexion/extension arc of motion decreased with surgery from 135 degrees to 75 degrees. The average grip strength increased significantly with surgery from 20 kg to 32 kg; however, grip strength remained significantly lower than the opposite side strength of 54 kg. CONCLUSIONS: Four-corner arthrodesis is a reasonable option for PMCI. Compared with previous reports of soft tissue reconstruction 4-corner arthrodesis may provide a more reliable solution for this difficult problem.

Adult↗

The Steindler flexorplasty for the arthrogrypotic elbow.

PURPOSE: The arthrogrypotic elbow often lacks active flexion. If active elbow flexion can be provided by muscle transfer, patient independence increases and the patient can function in a less conspicuous manner by avoiding adaptive mechanisms. The purpose of this article is to review the outcome of patients with arthrogryposis treated with the Steindler flexorplasty to obtain active elbow flexion. METHODS: Seventeen elbows in 10 patients with an average age of 7 years were treated surgically with the Steindler flexorplasty procedure. Before surgery none of the patients was able to flex actively the elbow against gravity. All of the patients had at least 70 degrees of passive elbow flexion. Upper-extremity active and passive range of motion, strength of flexion, functional outcome, and patient satisfaction were assessed at an average of 5 years after surgery (range, 2-9 years). RESULTS: After surgery all patients obtained active elbow flexion against gravity averaging 85 degrees (range, 30 degrees -120 degrees ); patients were able to lift an average of 1 kg through their entire arc of elbow flexion. At last follow-up evaluation patients lost an average of 27 degrees of elbow extension. Patients lost forearm rotation but did not lose wrist or finger range of motion. Subjectively, 9 of the 10 patients were satisfied with the outcome of the surgery and would recommend the surgery to others. CONCLUSIONS: The Steindler flexorplasty provides improved elbow flexion strength and patient function and should be considered for children with arthrogryposis.

Activities of Daily Living↗