A New Classification System for Forearm Deformities Caused by Hereditary Multiple Osteochondromas.

PURPOSE: The objective of this study was to evaluate the Masada and Jo classifications for clinical use in patients with forearm deformity caused by hereditary multiple osteochondroma and propose a new classification system that is all-inclusive and can guide clinical management. METHODS: A retrospective review of 275 forearms was performed. A split-sample approach was used, where 138 forearms were analyzed to create a new classification, which was then validated on the remaining 137 forearms. Radiographs were reviewed to determine the number and location of osteochondromas and the presence of radial head dislocation (RHD) and to measure radiographic parameters. Multivariable logistic regression analysis was performed to identify radiological parameters associated with RHD. RESULTS: According to the Masada and Jo classifications, 95 of 275 forearms (34.5%) were unclassifiable. Analyses of the split group (n = 138) revealed 42 forearms with RHD. All these had distal ulna lesions, qualifying as the greatest associated factor for RHD. Further subgroup multivariable logistic regression analysis of forearms with distal ulna lesions identified radiological parameter proportional ulna length as a statistically significant association of RHD, qualifying as "at-risk" criteria. The area under the receiver operating characteristic curve for proportional ulna length was 0.89, with a receiver operating characteristic-derived ideal value of ≤ 0.95 (sensitivity 0.86 and specificity 0.86). CONCLUSIONS: We proposed a new classification system stratified into three groups-high, moderate, and low-risk of RHD-based on the identified factors associated with RHD. Type 1 comprises forearms with distal ulna osteochondromas-subdivided into type 1A (high-risk), where forearms meet the at-risk criteria for RHD and type 1B (moderate-risk), where forearms do not meet the at-risk criteria. Type 2 (low-risk) comprises forearms without distal ulna osteochondromas. CLINICAL RELEVANCE: Our classification system addresses the limitations of existing classifications by risk stratifying forearms into three groups-high, moderate, and low-risk of RHD.

Tumors of the Brachial Plexus: A Critical Analysis Review.

¼ Tumors of the brachial plexus are uncommon and can present as a mass, with or without neurological symptoms. At times, asymptomatic tumors are also picked up incidentally when imaging is performed for other reasons.¼ Magnetic resonance imaging is the main imaging modality used to evaluate tumors of the brachial plexus. Other imaging modalities can be used as required.¼ Benign tumors that are asymptomatic should be observed. Excision can be considered for those that are found to be growing over time.¼ Biopsies of tumors of the brachial plexus are associated with the risk of nerve injury. Despite this, they should be performed for tumors that are suspected to be malignant before starting definitive treatment.¼ For malignant tumors, treatment decisions should be discussed at multidisciplinary tumor boards, and include both the oncology and peripheral nerve surgical team, musculoskeletal radiology, neuroradiology, and general radiology.

Artificial Intelligence in Hand Surgery - How Generative AI is Transforming the Hand Surgery Landscape.

Artificial intelligence (AI) has witnessed significant advancements, reshaping various industries, including healthcare. The introduction of ChatGPT by OpenAI in November 2022 marked a pivotal moment, showcasing the potential of generative AI in revolutionising patient care, diagnosis and treatment. Generative AI, unlike traditional AI systems, possesses the ability to generate new content by understanding patterns within datasets. This article explores the evolution of AI in healthcare, tracing its roots to the term coined by John McCarthy in 1955 and the contributions of pioneers like John Von Neumann and Alan Turing. Currently, generative AI, particularly Large Language Models, holds promise across three broad categories in healthcare: patient care, education and research. In patient care, it offers solutions in clinical document management, diagnostic support and operative planning. Notable advancements include Microsoft's collaboration with Epic for integrating AI into electronic medical records (EMRs), enhancing clinical data management and patient care. Furthermore, generative AI aids in surgical decision-making, as demonstrated in plastic, orthopaedic and hepatobiliary surgeries. However, challenges such as bias, hallucination and integration with EMR systems necessitate caution and ongoing evaluation. The article also presents insights from the implementation of NUHS Russell-GPT, a generative AI chatbot, in a hand surgery department, showcasing its utility in administrative tasks but highlighting challenges in surgical planning and EMR integration. The survey showed unanimous support for incorporating AI into clinical settings, with all respondents being open to its use. In conclusion, generative AI is poised to enhance patient care and ease physician workloads, starting with automating administrative tasks and evolving to inform diagnoses, tailored treatment plans, as well as aid in surgical planning. As healthcare systems navigate the complexities of integrating AI, the potential benefits for both physicians and patients remain significant, offering a glimpse into a future where AI transforms healthcare delivery. Level of Evidence: Level V (Diagnostic).

Challenges and Solutions in Prosthetic Fitting of Digits after Flap Reconstruction.

Surgical reconstruction can restore length and function, but cannot adequately resolve the problem of disfigurement. Prosthetic fitting can play a complementary role in enhancing the aesthetic outcomes post reconstruction. However, complex reconstruction involving flaps coupled with the surgical imperative for limb length preservation can lead to outcomes where the reconstructed stumps are challenging to fit with prosthesis. This article describes how prosthetic fitting was tackled in a case of a triple-digit amputation after reconstruction that presented with finger stumps that were bulky, long and stiff in extension contracture, compounded by the presence of substantive scar tissues. We discuss major prosthesis modifications that were unconventional but necessary to enable fitting, the techniques involved, as well as the aesthetic and functional considerations behind the modifications. The results showed that enhanced aesthetic appearance, together with a marginal improvement in hand function, was achieved post-prosthetically, meeting the patient's and the clinical team's fitting objective. Level of Evidence: Level V (Therapeutic).

Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): a meta-analysis.

INTRODUCTION: Malignant peripheral nerve sheath tumors (MPNSTs) are malignancies that demonstrate nerve sheath differentiation in the peripheral nervous system. They can occur sporadically or be associated with neurofibromatosis type 1 (NF1), an autosomal dominant neurocutaneous disorder, with up to 13% of patients developing MPNSTs in their lifetimes. Previous studies have suggested conflicting findings regarding the prognosis of NF1 for patients with MPNSTs. The elucidation of NF1 as an independent prognostic factor on mortality has implications for clinical management. We aim to investigate the role of NF1 status as an independent prognostic factor of overall survival (OS) and disease-specific survival (DSS) in MPNSTs. METHODS: An electronic literature search of PubMed and MEDLINE was performed on studies reporting OS or DSS outcomes of MPNSTs with and without NF1. A grey literature search by reviewing bibliographies of included studies and review articles was performed to find pertinent studies. Data was extracted and assessed in accordance with the PRISMA guidelines. A meta-analysis was performed to calculate hazard ratios (HRs) using a random-effects model. The primary and secondary outcomes were all-cause and disease-specific mortality, respectively, with NF1 as an independent prognostic factor of interest. RESULTS: A total of 59 retrospective studies involving 3602 patients fulfilled the inclusion criteria for OS analysis, and 23 studies involving 704 MPNST patients were included to evaluate DSS outcomes. There was a significant increase in the hazard of all-cause mortality (HR 1.63, 95% CI 1.45 to 1.84) and disease-specific mortality (HR 1.52, 95% CI 1.24 to 1.88) among NF1 as compared to sporadic cases. Subgroup analyses and meta-regression showed that this result was consistent regardless of the quality of the study and year of publication. CONCLUSION: NF1 is associated with a substantially higher risk of all-cause and disease-specific mortality. This finding suggests that closer surveillance is required for NF1 patients at risk of developing MPNSTs.

Functional use of esthetic hand prosthesis: A patient's perspective.

Published reports on the functional benefits of esthetic prosthesis are based on either anecdotal evidence or simplified, nonstandard forms of hand function evaluation performed by the researcher. It is not clear whether and how patients actually make functional use of their prosthesis on a daily basis. We report a case of a patient with a partial hand amputation who was initially ambivalent about fitting an esthetic prosthesis, but went on to make functional use of her prosthesis for activities of daily living, work, and social life at 3 years after injury. We present the patient's own assessment and video recordings, made without influence from rehabilitation personnel that demonstrates this functional use. From this case, we discuss the important factors of a favorable residual limb type, together with targeted modifications made to the prosthesis to optimize function.

Color-matching techniques for creating esthetic hand and finger prostheses.

BACKGROUND: Color matching is a critically important part of, and by far, also the most challenging aspect of producing esthetic silicone prosthesis. There is a knowledge gap in the literature and a lack of opportunities for training in the expertise, particularly regarding color-matching techniques. OBJECTIVE: This article details a color-matching technique that is able to achieve life-like coloration in esthetic prosthesis. TECHNIQUE: Each prosthesis is molded in an outer and inner layers of silicone tinted to different shades and opacities incorporating an intermediate touch-up layer to reproduce the detailed coloration of the hand (because of the presence of veins, finger joint/dermal pigmentations, a vascularized nail bed, and pinkish palm). This method of color-matching prosthesis combining intrinsic and extrinsic techniques simulates the layered anatomy and optical properties of the human skin to effectively replicate its esthetic and life-like coloration. Technical tips for achieving an accurate color match to the patient's skin, including pigment formulation adjustments for a tanned vs. a fair skin, and for painting the touch-up details are discussed. Methods for modifying the color tones of completed prosthesis and for minimizing metameric color differences when the prosthesis is viewed under different light sources are also presented. DISCUSSION: The technique is instrumental in achieving good outcomes for life-likeness and esthetic coloration in the prostheses fitted at our center. Studies previously published that investigated patients' evaluation of important esthetic characteristics of their prosthesis after a period of adjustment to fitting have shown a generally high level of patient satisfaction.

Comparison of proximal and distal involvement of upper extremity metastatic lesions: an analysis of 55 cases.

We analysed the differences in clinical presentation between proximal (above elbow) and distal (below elbow) upper limb metastases in a retrospective review of patients presenting to our centre from 2011 to 2019. There were 55 cases, 64% involving the humerus and 62% occurring in men. The median age at the time of diagnosis was 64 years. Thirty-one per cent of the cases were proximal lesions. Distal upper limb metastases were more likely to be soft tissue lesions (71%) compared with proximal lesions (8%). The median age of patients with distal lesions was significantly lower at 58 years compared with 65 years for proximal lesions. Overall, non-small cell lung carcinoma was the most common primary malignancy (25%), however haematological cancers were most common in the distal group (29%). Distal upper limb metastases have distinct features that distinguish them from proximal lesions.Level of evidence: IV.

Pigmented Nail Lesions: When to Observe, When to Biopsy, When to Widely Excise, and When to Amputate?

Pigmented nail lesions are challenging problems. The differential diagnosis is broad and ranges from common self-limiting conditions, such as subungual hematoma and infection, to potentially fatal conditions, such as subungual melanoma. Clinical assessment and adjuncts, such as dermoscopy and imaging, are usually insufficient to establish a diagnosis, and a nail bed biopsy is often required. However, this is not an innocuous procedure and may result in permanent nail deformity. In addition, subjecting every patient with nail pigmentation to a biopsy will result in an unacceptably high rate of negative test results. Furthermore, histopathologic diagnosis of subungual melanoma remains challenging for several reasons. Once the diagnosis of subungual melanoma is established, the definitive treatment is controversial because the existing guidelines have largely been adapted from those for cutaneous melanoma. This review presents an approach to the diagnosis and management of pigmented subungual lesions and subungual melanoma, in particular, on the basis of the latest available evidence.

Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore.

BACKGROUND: Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5-10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZTR1 gene. METHODS: We reviewed the clinical characteristics and genetic testing results of patients referred to the NCIS Adult Cancer Genetics Clinic for suspected hereditary PNST. RESULTS: 3,001 patients suspected to have various hereditary cancer syndromes were evaluated between year 2000 to March 2021. 13 (0.4%) were clinically diagnosed to have hereditary PNSTs. The majority were male (54%), with a median age at presentation to the genetics clinic of 29 years (range 19-48). 11/13 (85%) patients had multiple PNSTs, 12/13 (92%) had young onset PNSTs, 5/13 (38.5%) had personal and family history of PNST. 11/13 patients (85%) had clinical features of neurofibromatosis type 1 (NF1) including one patient who also fulfilled clinical criteria of neurofibromatosis type 2 (NF2); 2/13 (14%) had multiple schwannomas. Four patients underwent multi-gene panel testing, including one patient with clinical NF1, one patient who met both clinical NF1 and NF2 criteria, and two patients with multiple schwannomas. The patient with clinical features of NF1 was heterozygous for a pathogenic c. 2033dup variant in the NF1 gene. The patient with both NF1/NF2 features was heterozygous for a novel c.732 T > A nonsense variant in the NF2 gene. The two patients with multiple schwannomas were heterozygous for a pathogenic/likely pathogenic variant in the LZTR1 gene and are the first LZTR1-positive schwannomatosis patients reported in Asia. CONCLUSION: Hereditary PNSTs are rare referrals to an adult cancer genetics clinic. NF1 is the most common PNST seen. LZTR1 variants may be the underlying cause in Asian patients with multiple schwannomatosis.

Predictors and Treatment Outcomes of Pediatric Osteosarcoma in Diverse Socioeconomic Backgrounds in Southeast Asia: A Retrospective Multicenter Study.

BACKGROUND: Pediatric osteosarcoma outcomes among developed and developing countries have not been previously compared. Countries in Southeast Asia (SEA) have a wide variety of socioeconomic statuses. A multi-institutional retrospective study was conducted to determine the prognostic factors and outcomes for pediatric osteosarcoma in SEA. METHODS: Pediatric patients with osteosarcoma treated between 1998 and 2017 in 4 SEA pediatric oncology centers were studied. Countries were classified using the World Bank Atlas method. Kaplan-Meier method and Cox's Proportion Hazard Model were applied to estimate survival outcomes and identify prognostic factors. RESULTS: In all, 149 patients with osteosarcoma with a mean age of 12.48±3.66 years were enrolled. The localized to metastatic disease ratio was 1.5:1. The 5-year overall survival (OS) and event-free survival (EFS) were 53.8% and 42%, respectively. Prognostic factors associated with outcomes were country, stage of disease, MTX-containing regimens, and surgery type (p-value <0.05). In patients with localized disease, EFS was superior with limb-salvage surgery (62%) than amputation or rotationplasty (40%) (p-value 0.009). MTX-containing chemotherapies provided higher OS (45.3%) and EFS (37.9%) than non-MTX regimens (12.3% and 10.7%, respectively) among metastatic patients (p-value 0.004 and 0.005, respectively). Metastatic disease was an independent prognostic factor for death but not relapse outcome.  Conclusion: The disease outcomes in SEA were acceptable compared to developed countries. The stage of disease was the only independent prognostic factor. MTX-containing regimens and limb-salvage surgery should be considered where possible.

Differential Diagnoses of Pediatric Upper Limb Masses.

PURPOSE: Upper limb masses are one of the most common presentations in the outpatient setting. However, there is a paucity of information in the literature regarding the epidemiology of upper-extremity masses in the pediatric population. The aim of this study was to determine the differential diagnoses and clinical characteristics in children aged ≤18 years presenting with upper limb masses. METHODS: A retrospective review of patients aged ≤18 years managed at our institution over a 5-year period was performed. We obtained information on patient demographics, clinical features, radiological investigations, intraoperative features, and histology. We also evaluated the correlation between the clinical and histopathological diagnoses in patients who underwent surgery. RESULTS: There were 141 upper limb masses in our series. The mean age at presentation was 12 years (SD, 5 years). The most common presenting complaints were asymptomatic swelling, pain, and paresthesia. The majority (128; 91%) of tumors were benign; there were 5 locally aggressive tumors and 6 malignant tumors. The dominant hand was involved in 60 patients. Of 140 patients, 43 (31%) patients had surgery. The procedures included incisional biopsy, excisional biopsy, wide resection, and reconstruction. One patient required a below elbow amputation for an osteosarcoma. CONCLUSIONS: Ten percent of cases represented malignant or locally aggressive disease. We have used our observations to develop a clinical algorithm that can assist clinicians in evaluating and managing children and adolescents presenting with upper-extremity masses. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

MNK1 and MNK2 enforce expression of E2F1, FOXM1, and WEE1 to drive soft tissue sarcoma.

Soft tissue sarcoma (STS) is a heterogeneous disease that arises from connective tissues. Clinical outcome of patients with advanced tumors especially de-differentiated liposarcoma and uterine leiomyosarcoma remains unsatisfactory, despite intensive treatment regimens including maximal surgical resection, radiation, and chemotherapy. MAP kinase-interacting serine/threonine-protein kinase 1 and 2 (MNK1/2) have been shown to contribute to oncogenic translation via phosphorylation of eukaryotic translation initiation factor 4E (eIF4E). However, little is known about the role of MNK1/2 and their downstream targets in STS. In this study, we show that depletion of either MNK1 or MNK2 suppresses cell viability, anchorage-independent growth, and tumorigenicity of STS cells. We also identify a compelling antiproliferative efficacy of a novel, selective MNK inhibitor ETC-168. Cellular responsiveness of STS cells to ETC-168 correlates positively with that of phosphorylated ribosomal protein S6 (RPS6). Mirroring MNK1/2 silencing, ETC-168 treatment strongly blocks eIF4E phosphorylation and represses expression of sarcoma-driving onco-proteins including E2F1, FOXM1, and WEE1. Moreover, combination of ETC-168 and MCL1 inhibitor S63845 exerts a synergistic antiproliferative activity against STS cells. In summary, our study reveals crucial roles of MNK1/2 and their downstream targets in STS tumorigenesis. Our data encourage further clinical translation of MNK inhibitors for STS treatment.

The treatment landscape of advanced angiosarcoma in Asia-A multi-national collaboration from the Asian Sarcoma Consortium.

Angiosarcoma (AS) is a rare disease with a dismal prognosis. The treatment landscape and prognostic factors for advanced AS, including locally advanced, unresectable, and metastatic disease remain elusive. The Asian Sarcoma Consortium is an international collaborative effort to understand the sarcoma treatment landscape in Asia. We undertook a retrospective chart review of AS patients seen in 8 sarcoma academic centers across Asia. Patients with complete clinical, treatment, and follow-up data were enrolled. Overall, 276 advanced AS patients were included into this study; 84 (30%) of the patients had metachronous metastatic AS. The median age was 67 y; primary sites of AS was cutaneous in 55% and visceral in 45% of patients. In total, 143 (52%) patients received at least 1 line of systemic chemotherapy. The most common first-line chemotherapy regimen used was paclitaxel (47.6%) followed by liposomal doxorubicin (19.6%). The median overall survival (OS) was 7.8 mo. Significant prognostic factors for OS included age > 65 (hazard ratio (HR) 1.54, P = .006), male gender (HR 1.39, P = .02), and a cutaneous primary AS site (HR 0.63, P = .004). The median progression-free survival (PFS) for first-line chemotherapy was 3.4 mo. PFS for single vs combination or paclitaxel vs liposomal doxorubicin chemotherapy regimens were comparable. This study provides an insight into the treatment patterns and prognostic factors of advanced AS patients in Asia. Prognosis of advanced AS remains poor. Data from this study serve as a benchmark for future clinical study design.

Sustaining a national surgical training programme during the COVID-19 pandemic.

The COVID-19 pandemic has disrupted all segments of daily life, with the healthcare sector being at the forefront of this upheaval. Unprecedented efforts have been taken worldwide to curb this ongoing global catastrophe that has already resulted in many fatalities. One of the areas that has received little attention amid this turmoil is the disruption to trainee education, particularly in specialties that involve acquisition of procedural skills. Hand surgery in Singapore is a standalone combined programme that relies heavily on dedicated cross-hospital rotations, an extensive didactic curriculum and supervised hands-on training of increasing complexity. All aspects of this training programme have been affected because of the cancellation of elective surgical procedures, suspension of cross-hospital rotations, redeployment of residents, and an unsustainable duty roster. There is a real concern that trainees will not be able to meet their training requirements and suffer serious issues like burnout and depression. The long-term impact of suspending training indefinitely is a severe disruption of essential medical services. This article examines the impact of a global pandemic on trainee education in a demanding surgical speciality. We have outlined strategies to maintain trainee competencies based on the following considerations: 1) the safety and wellbeing of trainees is paramount; 2) resource utilization must be thoroughly rationalized; 3) technology and innovative learning methods must supplant traditional teaching methods; and 4) the changes implemented must be sustainable. We hope that these lessons will be valuable to other training programs struggling to deliver quality education to their trainees, even as we work together to battle this global catastrophe.

Emergency Hand and Reconstructive Microsurgery in the COVID-19-Positive Patient.

The case spectrum in hand surgery is one of extremes-purely elective day surgery cases under local anesthesia to mangling limb injuries that require immediate, and frequently, lengthy, surgery. Despite the cancellation of most elective orthopedic and plastic surgical procedures, hand surgeons around the world continue to see a steady stream of limb-threatening cases such as severe trauma and infections that require emergent surgical care. With the increase in community-spread, an increasing number of COVID-19-infected patients may be asymptomatic or have mild, nonspecific or atypical symptoms. Some of them may already have an ongoing, severe infection. The time-sensitive nature of some of these cases means that hand surgeons may need to operate urgently on patients who may be suspected of COVID-19 infections, often before confirmatory test results are available. General guidelines for perioperative care of the COVID-19-positive patient have been published. However, our practices differ from those of general orthopedic and plastic surgery, primarily because of the focus on trauma. This article discusses the perioperative and technical considerations that are essential to manage the COVID-19 patient requiring emergency care, without compromising clinical outcomes and while ensuring the safety of the attending staff.

Functional Restoration Following Resection of Malignant Peripheral Nerve Sheath Tumour of the Median Nerve: A Case Report.

Management of malignant peripheral nerve sheath tumours (MPNSTs) is primarily surgical, involving surgical resection with wide margins, and frequently radiation therapy. When a MPNST involves a major peripheral nerve, wide resection leads to significant distal neurologic deficits. A patient who underwent resection of a MPNST involving the median nerve above the elbow is presented. Staged tendon and nerve transfers were performed to restore sensation to the thumb and index finger, thumb opposition and flexion, finger flexion and forearm pronation. These included: 1. radial sensory nerve branches to digital nerves of thumb and index finger, 2. ulnar nerve branch of flexor carpi ulnaris to pronator teres, 3. brachioradialis to flexor pollicis longus, 4. side-to-side transfer of flexor digitorum profundus tendon of index finger to middle, ring and little fingers, 5. extensor indicis proprius to abductor pollicis brevis. The rationale, approach, and favourable results of functional reconstruction in this patient are detailed.

Tumors of the Hand and the Wrist.

Most tumors of the hand and the wrist are benign; however, malignant conditions can mimic benign tumors and must be worked up accordingly. Advanced imaging should be followed by biopsy before definitive treatment of tumors of unknown diagnosis. The most common soft-tissue masses in the hand and the wrist are ganglion cysts, whereas the most common bone tumors are enchondromas.

Identification of somatic alterations in lipoma using whole exome sequencing.

Lipomas are benign fatty tumors with a high prevalence rate, mostly found in adults but have a good prognosis. Until now, reason for lipoma occurrence not been identified. We performed whole exome sequencing to define the mutational spectrum in ten lipoma patients along with their matching control samples. We presented genomic insight into the development of lipomas, the most common benign tumor of soft tissue. Our analysis identified 412 somatic variants including missense mutations, splice site variants, frameshift indels, and stop gain/lost. Copy number variation analysis highlighted minor aberrations in patients. Kinase genes and transcriptions factors were among the validated mutated genes critical for cell proliferation and survival. Pathway analysis revealed enrichment of calcium, Wnt and phospholipase D signaling in patients. In conclusion, whole exome sequencing in lipomas identified mutations in genes with a possible role in development and progression of lipomas.