A functional variant of ALDH1A2 is associated with hand osteoarthritis in the Chinese population.

Genome-wide association study identified common variants within the ALDH1A2 gene as the susceptible loci of hand osteoarthritis (HOA) in UK and Iceland populations. Located in chromosome 15, ALDH1A2 encodes aldehyde dehydrogenase family 1 member A2, which is an enzyme that catalyses the synthesis of retinoic acid from retinaldehyde. Our purposes were to replicate the association of functional variant in ALDH1A2 with the development of HOA in the Chinese population. Variant rs12915901 of ALDH1A2 was genotyped in 872 HOA patients and 1223 healthy controls. Subchondral bone samples were collected from 40 patients who had undergone a trapeziectomy, and the tissue expression of ALDH1A2 was analysed. The chi-square analysis was used to compare the frequency of genotype and risk allele between the HOA cases and controls. The Student t test was used to compare the mRNA expression of ALDH1A2 between patients with genotype AA/AG and those with genotype GG. The frequency of genotype AA was significantly higher in HOA patients than in the controls (7.6% vs. 5.1%, p = .01). The frequency of allele A was significantly higher in the patients than in the controls (28.9% vs. 24.6%, p = .005). The mRNA expression of ALDH1A2 was 1.31-folds higher in patients with genotype GG than in the patients with genotype AA/AG (0.000617 ± 0.000231 vs. 0.000471 ± 0.000198, p = .04). Variant rs12915901 of ALDH1A2 contributed to the susceptibility of HOA in the Chinese population. Allele A of rs12915901 can add to the risk of HOA possibly via down-regulation of ALDH1A2 expression.

Being a Better Starfish Thrower, Carpal Tunnel Syndrome, and Cardiac Amyloidosis: The Hand Surgeon's Opportunity to Make a Profound Difference.

In recent years, there is increasing literature in cardiac and hand surgery journals demonstrating a stronger association between seemingly idiopathic carpal tunnel and amyloidosis. Despite this, it can be difficult for hand surgeons to identify who need biopsies, and this is further complicated by the cost of a biopsy and the low likelihood that a patient has cardiac amyloidosis. In patients with cardiac amyloidosis and carpal tunnel syndrome (CTS), CTS is typically diagnosed 5-10 years prior. Early diagnosis of cardiac amyloidosis is crucial, as current medications work to slow disease progression, but do not treat existing amyloid deposits. Hand surgeons can play an essential role in early diagnosis. The patient case discussed describes a man who had a carpal tunnel biopsy because of his bilateral CTS, recurrent trigger fingers, and his age. After confirmation of amyloidosis, he was referred for cardiac amyloidosis evaluation. Testing confirmed this diagnosis, and he was started on tafamidis, which studies show provide patients an opportunity for increased survival and quality of life. The responsibility falls on cardiologists and hand surgeons to continue refining the indications for carpal tunnel biopsy and spreading awareness of carpal tunnel biopsy and amyloid testing, as much work is still needed.

Morphological differences between the dorsal and palmar septa of the first extensor compartment in relation to the brachioradialis and pronator quadratus.

BACKGROUND: The first extensor compartment of the wrist is known as a frequent site of stenosing tenosynovitis, referred to as de Quervain's disease. De Quervain's disease occurs more frequently in the dorsal part of the first extensor compartment than in the palmar part; however, the anatomical reason why the dorsal part is worse remains poorly elucidated. This study clarified the morphological differences between the dorsal and palmar parts by examining their relationship with the surrounding structures. METHODS: In this study, a total of 35 wrists from 23 Japanese cadavers were used. Twenty-five wrists were randomly assigned for macroscopic analysis, and the remaining 10 wrists were used for histological analysis. RESULTS: The palmar septum of the first extensor compartment was connected to the brachioradialis tendon and superficial head of the pronator quadratus and was histologically stout compared to the dorsal septum. Despite several anatomical variations, such as the septum between the abductor pollicis longus/extensor pollicis brevis and the multiple tendons of these muscles, the aforementioned characteristics of the fibrous sheath in the first extensor compartment were identical in all specimens. CONCLUSION: In contrast to the fragile structure of the dorsal septum, the stout structure of the palmar septum could be related to the low occurrence of symptoms of de Quervain's disease. The present results could play a role in revealing the pathogeny and establish the precise treatment for de Quervain's disease and provide an anatomical basis for kinesiological/biomechanical studies.

Erosive Hand Osteoarthritis: Recent Advances and Future Treatments.

PURPOSE OF THE REVIEW: Erosive hand osteoarthritis (EHOA) is an aggressive form of hand osteoarthritis that leads to significant disability, and recent data suggests that it is increasing in prevalence. This review provides an update of our current understanding of epidemiology, genetic associations, biomarkers, pathogenesis, and treatment of EHOA, with particular focus on studies published within the last 5 years. RECENT FINDINGS: New studies of EHOA have identified new genetic loci associated with disease, including variants in genes involved in inflammation and bone remodeling. Preclinical studies implicate pathways of innate immunity, including some that may be causal in the condition. Recent novel studies showed that inflammatory features identified by ultrasound and MRI are associated with development of erosive lesions over time on conventional radiography. In the future, these imaging modalities may be useful in identifying patients at risk of adverse outcomes. Promising new findings in genetics, biomarkers, and treatment targets will hopefully allow for future therapeutic options for this debilitating condition.

Biopsies for Soft-Tissue Sarcoma of the Hand: Dangers, Hazards, and Outcomes.

INTRODUCTION: Excisional biopsies for soft-tissue sarcoma (STS) of the hand are commonly done outside of sarcoma centers and can compromise incorporation of the biopsy site into standard limb salvage or amputation flaps. We sought to identify risk factors for these suboptimal biopsies. METHODS: We analyzed prospective data on all patients (N = 109) who underwent definitive resection of primary STS of the hand between 1995 and 2019 at our institution. Biopsies were classified by type (excisional vs. incisional/needle), whether they were done before referral, and whether the incision could be incorporated into standard limb salvage or amputation flaps (ILS biopsies) or not (NILS biopsies). Analyses examined potential predictors of NILS biopsies and whether outcomes differed by biopsy type. RESULTS: Biopsies done before referral (N = 91) were more likely to be excisional (79% vs. 17%). Excisional biopsies were associated with smaller tumor size (median, 2.0 vs. 3.15 cm; P = 0.025) and longer time to first intervention (1.88 vs. 1.17 months; P = 0.001). Forty-eight percent of excisional and 29% of incisional biopsy sites required soft-tissue coverage at the time of definitive surgery ( P = 0.07). Biopsy type was not associated with Musculoskeletal Tumor Society score or need for amputation. Risk factors for NILS biopsies included larger tumor size, deep tumor, and excisional biopsy. High-risk areas for NILS biopsies included the carpal tunnel, volar wrist, first webspace, radial palm, and proximal thumb. NILS biopsies were associated with positive margins, need for soft-tissue coverage, and lower Musculoskeletal Tumor Society scores. DISCUSSION: This study informs referral guidelines for patients with STS of the hand. Patients with tumors that are deep, large, or in high-risk locations should be referred to a sarcoma center before biopsy. If that is not possible, incisional biopsy in line with standard resection incisions or radiology-guided core needle biopsy is preferable to excisional biopsy. TYPE OF STUDY: Prognostic study. LEVEL OF EVIDENCE: Level II.

Ultrasound-An Easy Available and Useful Point-of-Care Adjunct for Clinical Decision-Making in Hand Infections: Review of the Literature and a Case Series.

ABSTRACT: Initial findings of hand infections warrant a thorough treatment strategy depending on the progress of the infection. The decision for surgical treatment can be unclear. Searching to improve the quality of diagnostics, we reviewed the literature regarding the use of point-of-care ultrasound (PCUS) in hand infections and analyzed patients undergoing decision-making with PCUS. We searched PubMed, Scopus, Cochrane Register, and Google Scholar for the use of PCUS in therapy planning in infections of the hand. In addition, we screened our patients from July 1, 2020, to November 30, 2020, to validate the potential benefit of ultrasound examination in suspected hand infections. We evaluated initial clinical examinations versus blinded sonographic assessments in the context of correct decision to proceed with surgery or conservative treatment. Two thousand forty-eight studies within the topic were identified, but only 9 studies were found eligible to be included with a total of 88 patients. The studies illustrate that ultrasound can be performed on all patients, including children and pregnant women, and can be performed in a timely manner. In our retrospective analysis of 20 patients with suspected hand infection, the clinical and ultrasound assessment led to surgery in 13 cases. Of those 13 patients, 7 revealed intraoperative pus. By retrospective assessment of solely the ultrasound images, surgery would have been indicated in 9 cases, including all 7 cases with intraoperative pus. Clinical examination and ultrasound can help in detecting infections of the hand. Ultrasound examination, however, seems to yield a lower false-positive rate than clinical examination. Ultrasound could be a valuable addition to clinical examination.

Impaired glymphatic system revealed by DTI-ALPS in cerebral palsy due to periventricular leukomalacia: relation with brain lesion burden and hand dysfunction.

PURPOSE: Preterm children with cerebral palsy (CP) often have varying hand dysfunction, while the specific brain injury with periventricular leukomalacia (PVL) cannot quite explain its mechanism. We aimed to investigate glymphatic activity using diffusion tensor image analysis along the perivascular space (DTI-ALPS) method and evaluate its association with brain lesion burden and hand dysfunction in children with CP secondary to PVL. METHODS: We retrospectively enrolled 18 children with bilateral spastic CP due to PVL and 29 age- and sex-matched typically developing controls. The Manual Ability Classification System (MACS) was used to assess severity of hand dysfunction in CP. A mediation model was performed to explore the relationship among the DTI-ALPS index, brain lesion burden, and the MACS level in children with CP. RESULTS: There were significant differences in the DTI-ALPS index between children with CP and their typically developing peers. The DTI-ALPS index of the children with CP was lower than that of the controls (1.448 vs. 1.625, P = 0.003). The mediation analysis showed that the DTI-ALPS index fully mediated the relationship between brain lesion burden and the MACS level (c' = 0.061, P = 0.665), explaining 80% of the effect. CONCLUSION: This study provides new insights into the neural basis of hand dysfunction in children with CP, demonstrating an important role of glymphatic impairment in such patients. These results suggest that PVL might affect hand function in children with CP by disrupting glymphatic drainage.

Medium-term Outcomes of Excision Using Surgical Microscope of Tenosynovial Giant Cell Tumors of the Hand.

BACKGROUND/AIM: The recurrence rate following the excision of tenosynovial giant cell tumors (TSGCT) of the hand is very high. Intraoperative application of a surgical microscope has been reported. However, to date, there are no reports of medium-term outcomes related to this technique. This study aimed to evaluate the medium-term outcomes of tumor excision using surgical microscope for TSGCT of the hand. PATIENTS AND METHODS: A total of 27 patients, who underwent an initial surgery for histologically-confirmed TSGCT of the hand, between 2008 and 2020, were included and evaluated. The mean follow-up time postoperatively was 6.8 years. Tumor recurrence and preoperative tumor characteristics were assessed. RESULTS: All tumors were adherent to tendons, tendon sheaths, neurovascular structures or periarticular ligaments and capsules. Bony lesions were observed in 11 tumors. The surgical microscope was used in 13 tumors. Recurrences were observed in three tumors (overall recurrence rate: 11%). Tumor characteristics were similar in both groups, but the recurrence rate in the group treated using the surgical microscope was 0%, whereas the recurrence rate in the group treated without the surgical microscope was 21%. Re-operations using the surgical microscope for recurrent tumors were performed, without recurrence postoperatively. CONCLUSION: Among patients with TSGCT of the hand treated with tumor excision using the surgical microscope, the postoperative recurrence rate was 0%. Based on the results of this study, the surgical microscope might be used for excision of TSGCTs of the hand.

Nodular-Type Lichen Myxedematosus: A Rare Variant With Exclusive Involvement of the Hands-Report of Two Cases With a Comprehensive Review of the Literature.

ABSTRACT: Lichen myxedematosus (LM) is an uncommon cutaneous mucinosis characterized by the deposition of mucin and fibroblast proliferation in the dermis. This condition can be classified into 2 forms: a diffuse/generalized LM, also known as scleromyxedema, associated with monoclonal gammopathy and systemic implications, and a localized form, primarily affecting the skin. Within the localized form, nodular-type LM is a rare variant presenting as firm, skin-colored to pinkish mucinous nodules. In this article, we report 2 new cases of nodular-type LM with exclusive involvement of the hands and provide a comprehensive review of the diagnosis, histopathological aspects, and therapeutic considerations of this rare condition.

Nontuberculous mycobacteriosis oligoarthritis of the right hand misdiagnosed as rheumatoid arthritis: A case report.

Infection with Mycobacterium marinum has several different clinical presentations. Most commonly, it appears as a solitary papulonodular lesion on an extremity. A rare presentation of osteoarticular M. marinum involving multiple small joints and tenosynovitis of the hand, which was misdiagnosed as rheumatoid arthritis, is reported. The patient was initially treated for seronegative rheumatoid arthritis but failed to respond to methotrexate. Magnetic resonance imaging showed arthritis and tenosynovitis. Subsequently, synovial biopsy led to histological and microbiological diagnosis. Antimycobacterial treatment should be started promptly in such cases. The combined use of rifampicin, ethambutol, and clarithromycin appears to be effective, and debridement is indicated in patients with deep-seated infections.

Tenosynovial giant cell tumour of the finger: a case report.

Giant cell tumour most commonly occuring in epiphysis of the long bone, present and with pain, tenderness and swelling. It is a solitary lesion with restricted movement and tenderness over the lesion. The tendon sheath is where tenosynovial giant cell tumours typically develop. Because of its remarkably peculiar position, we present a case of giant cell tumour (GCT) tenosynovial of bone in the middle phalaynx in a 33-year-old female with complaints of swelling, pain in ring finger of left hand since 2 months which is rarely seen. After clinical, radiological, pathological investigations tenosynovial giant cell tumour was diagnosed. Following fine needle aspiration cytology, histopathology was utilized to confirm the tumour's diagnosis which was later treated as resection of excision of the tumour with allo/autograft reconstruction. Our case report showed no evidence of recurrence in 2 years of follow-up. Hence our case report proves that early and complete resection of the tumour shows evidence of regain of complete range of motion and decrease recurrence rate.

Giant lipoma in the index finger of the dominant hand of a swimmer: A case report.

Lipoma is a very common benign tumor that occurs in areas of adipose tissue and is commonly found on the whole body, although its occurrence in the hand and finger is rare. Giant lipoma, defined as over 5 cm long in diameter, is a rare benign tumor of abundant soft tissue in the finger. A 24-year-old male patient presented with a giant lipoma on the volar aspect of the index finger of his right hand. Magnetic resonance imaging (MRI) showed an encased multilobulated mass that measured 7.1x1.2x2.3 cm, and histopathological examination revealed lipoma without malignant transformation. Surgical resection of the tumor with a longitudinal and zig-zag incision of the palm was performed exposing the mass surrounding the palmar digital branch of the median nerve. The mass was completely removed, and neurorrhaphy was performed via the microscope to repair the damaged neurovascular bundle. At four months of postoperative follow-up, the patient was completely recovered with no finger paresthesia or limitation of range of motion. As a professional swimmer, the patient has experienced no subsequent difficulty in swimming due to his finger.

Skin Lesions, Foot Drop, and Hand Contractures.

A previously healthy individual in his 20s had 3 months of annular skin lesions, with numbness and paresthesia in the affected areas. Physical examination revealed multiple tattoos, bilateral palpable thickened auricular and ulnar nerves, and claw-hand deformity; test results for rapid plasma reagin, antinuclear antibodies, rheumatoid factor, acid-fast bacilli, mycobacteria, and fungi were negative, and biopsy did not identify Mycobacterium leprae. What is the diagnosis and what would you do next?

Methotrexate-associated lymphoproliferative disorder presenting as an ulcer with tendon exposure on the dorsum of the hand: a case report and literature review.

INTRODUCTION: MTX-LPD is a complication that occurs during MTX treatment. Skin lesions in MTX-LPD are often subcutaneous nodules with occasional necrosis and ulceration. Although MTX-LPD regression is frequently observed upon discontinuation of oral MTX treatment, delayed diagnosis of MTX-LPD with associated ulceration may lead to ulcer enlargement and the need for surgical procedures such as skin grafts. CASE REPORT: A 74-year-old female was diagnosed with RA and administered MTX for 3 years and 8 months. The patient presented with a 2-month-old ulcer on the dorsum of the hand. The ulcer size was 6.5 cm × 5 cm, and it was surrounded by an embankment tumor measuring 7 cm × 6 cm. Although a definitive diagnosis could not be made based on the biopsy specimen, excision of the ulcer-containing mass confirmed MTX-LPD diagnosis. MTX was discontinued, and free-flap reconstruction was performed 3 weeks after the first surgery. The postoperative period was uneventful, and MTX-LPD recurrence was not observed 10 months after the second surgery. CONCLUSION: Although MTX-LPD with ulceration is rare, it should be considered in cases of refractory ulcers in patients with RA. The discontinuation of MTX based on early MTX-LPD diagnosis is critical to avoid surgical procedures such as skin grafts and flap reconstruction.

Lumbrical muscle enhancement on MRI and its association with rheumatoid arthritis.

OBJECTIVE: To investigate the significance of lumbrical muscle enhancement (LME) on magnetic resonance imaging (MRI) in rheumatoid arthritis (RA). MATERIALS AND METHODS: Blinded to the diagnoses, contrast-enhanced bilateral hand MRIs of patients with suspected early RA between 2014 and 2019 were reviewed by two observers for the presence and degree (weak/strong) of LME. The presence of other inflammatory findings was also noted. The patients were then stratified into RA (n = 41), control (n = 31), and other arthritides groups(n = 28) based on their final diagnoses in the hospital records within the following 12 months. Categorical variables were compared by chi-square test or Fisher's exact test. Differences among the groups were evaluated by one-way ANOVA or Kruskal-Wallis tests. When the p-value from the Kruskal-Wallis test was statistically significant, multiple comparison test was used to identify group differences. Correlations between LME and flexor tenosynovitis were evaluated by Spearman rank correlation test. The agreement between two observers was assessed by Cohen's Kappa (κ) statistic. P-value < 0.05 was considered as statistically significant. RESULTS: There were 100 patients (88 females) with mean age of 47.2 ± 11.2. There were no significant differences for age or sex between groups (p = 0.17, p = 0.84, respectively). RA patients showed significantly more frequent (p < 0.001) and stronger LME (p = 0.001). There were no correlations between LME and flexor tenosynovitis (p > 0.05). Interrater agreement for the degree of LME on right and left sides was substantial (κ = 0.74, κ = 0.67, respectively). CONCLUSION: RA patients demonstrated significantly more frequent and stronger LME with substantial interrater agreement. LME could constitute a subtle radiological clue for early RA.