Microsurgical toe transfer for thumb reconstruction is a challenging procedure, considering the technical skills necessary to perform it, as well as the difficult postoperative evaluation of esthetical and functional aspects. The present is the report of the case of a 3-year-old child who suffered a traumatic thumb amputation. Thumb reconstruction was performed through microsurgical toe transfer months after replantation failure. Subjective and objective outcome assessments were performed five years after the procedure. The functional outcome was evaluated through the Childhood Health Assessment Questionnaire (CHAQ) and the Jebsen-Taylor Hand Function Test (JTHFT). The Jamar dynamometer (Sammons Preston, Bolingbrook, IL, US) and the Jamar Pinch Gauge (Sammons Preston) devices were used to assess the handgrip and pinch strength respectively. The Semmes-Weinstein monofilament and two-point discrimination tests were performed. The patient presented an excellent functional outcome, partial recovery of strength, complete sensory recovery, and minimal donor site morbidity. A radiographic evaluation was also performed, and it demonstrated the preservation of the epiphyseal plate and the growth potential of the transplanted toe. In all aspects, the data observed reinforce the benefits and indications of toe transfer for thumb reconstruction in children.

OBJECTIVE: To investigate the referral practices across different medical specialties and identify possible barriers to hand surgery referral. Rheumatoid hand deformities (RHDs) and thumb carpometacarpal (CMC) arthritis may require surgery once deformities occur. However, in Saudi Arabia, the rate of referrals to hand surgeons remains low.
METHODS: This was a cross-sectional study that included 102 consultants of family medicine, rheumatology, and orthopedics across various regions of Saudi Arabia. A total of 30 institutions were contacted and requested to distribute a survey questionnaire to their physicians; these institutions included 8 private hospitals, 16 government hospitals, and 6 primary healthcare centers. The survey included questions on the incidence, rate, management, knowledge, and referral of patients with RHD and CMC arthritis using a 5-point Likert scale. The Kruskal-Wallis H test was utilized in our analysis to evaluate the differences in responses among the 3 specialties.
RESULTS: For RHD and thumb CMC arthritis, the referral rate was higher among orthopedic surgeons compared to rheumatologists and family medicine physicians. The main barriers to referral were patient refusal, medical treatment alone being deemed adequate, and a lack of awareness of surgical options for management.
CONCLUSIONS: Our findings highlight discrepancies in patterns of physician referral of RHD and thumb CMC arthritis cases to hand surgeons, indicating the need for targeted interventions to improve referral rates and enhance patient outcomes.

BACKGROUND: Kagami-Ogata syndrome (KOS) and Temple syndrome (TS) are two imprinting disorders characterized by the absence or reduced expression of maternal or paternal genes in the chromosome 14q32 region, respectively. We present a rare prenatally diagnosed case of recurrent KOS inherited from a mother affected by TS.
METHODS: The woman\'s two affected pregnancies exhibited recurrent manifestations of prenatal overgrowth, polyhydramnios, and omphalocele, as well as a small bell-shaped thorax with coat-hanger ribs postnatally. Prenatal genetic testing using a single-nucleotide polymorphism array detected a 268.2-kb deletion in the chromosome 14q32 imprinted region inherited from the mother, leading to the diagnosis of KOS. Additionally, the woman carried a de novo deletion in the paternal chromosome 14q32 imprinted region and presented with short stature and small hands and feet, indicating a diagnosis of TS.
CONCLUSIONS: Given the rarity of KOS as an imprinting disorder, accurate prenatal diagnosis of this rare imprinting disorder depends on two factors: (1) increasing clinician recognition of the clinical phenotype and related genetic mechanism, and (2) emphasizing the importance of imprinted regions in the CMA workflow for laboratory analysis.

(1) Background: The objective of this study is to evaluate the predictive value of the Eaton-Littler radiologic classification for thumb carpometacarpal osteoarthritis (CMC OA) relating to intra-articular cartilage damage assessed by the Outerbridge arthroscopic classification. (2) Methods: A total of 51 thumb CMC OA arthroscopies were performed on patients classified as Eaton stages 1, 2, or 3. Post-arthroscopic evaluations of cartilage damage were categorized using the Outerbridge classification. Comparative analyses were conducted between the radiological Eaton stages and the arthroscopic Outerbridge stages. (3) Results: Arthroscopic examination revealed Outerbridge stage 3 and 4 cartilage damage in 26 cases classified as Eaton stage 2 and in 18 cases classified as Eaton stage 3. The detection of severe cartilage damage in patients classified as Eaton stage 2 was unexpected. (4) Conclusions: Arthroscopy demonstrated that many patients with mild radiological degenerative signs exhibited significant cartilage destruction. Although the Eaton classification is widely used for staging thumb CMC OA, it may not accurately reflect the severity of intra-articular damage. The Eaton classification does not reliably predict intra-articular damage in Eaton stage 2 cases.

Acute traumatic dislocation without fractures of the thumb carpometacarpal (CMC) joint is extremely rare in children. Treatment options, such as closed reduction with casting or pinning and open reduction with primary ligament repair, remain controversial. Here, we report the first case of an 11-year-old boy with recurrent left thumb CMC joint dislocation due to idiopathic generalized hyperjoint laxity, even after primary open reduction with capsular ligament repair of the thumb CMC joint, eventually treated with Eaton-Littler\'s ligament reconstruction. Intraoperatively, a drill hole was made in the base of the first metacarpal bone while carefully preventing growth plate injury. Primary ligament reconstruction of the thumb CMC joint may be considered in pediatric cases with systemic hyperjoint laxity or recurrent thumb CMC joint dislocation. In such cases, Eaton-Littler\'s ligament reconstruction is recommended for thumb CMC joint stability because two prime stabilizers of the dorsoradial ligament and the volar anterior oblique ligament (AOL) are appropriately reconstructed by a half-slip of the flexor carpi radialis tendon.

OBJECTIVE: This article presents a retrospective cohort study analyzing patients from IOT-FMUSP who underwent replantation or revision amputation procedures for traumatic thumb amputation between 2013 and 2020.
METHODS: The study included 40 patients in the replanted group and 41 patients in the amputed group. The patients were divided according to the level of amputation and their medical records were analyzed.
RESULTS: A total of 81 patients with digital amputation were analyzed, consisting of 79 males and 2 females, with mean ages of 43 and 49 for the amputed and replanted groups, respectively. According to the Biemer classification, 28.4% had proximal amputation, while 71.6% had distal amputation. The most common occupation was bricklayer (19.75%), and 80.24% were manual workers. Of the patients, 65% returned to their previous work, with 77.77% of them having amputation on their non-dominant hand, mostly caused by circular saw accidents (77.77%). The replantation success rate was 78%, with an average ischemia time of 9 hours and door-to-room time of 2 hours.
CONCLUSIONS: the study findings revealed that traumatic thumb amputation predominantly affects working-age males with a low education level and the success rate of replantation was high in this ischemia time and door-to-room conditions. Level of Evidence II, Retrospective study.
OBJECTIVE: Este artigo consiste em um corte retrospectivo que analisou vítimas de amputação traumática do polegar submetidas a reimplante ou procedimentos de regularização da amputação no Instituto de Ortopedia e Traumatologia do Hospital das Clínicas da Faculdade de Medica da Universidade de São Paulo (IOT-FMUSP). Métodos: Foram analisados 40 pacientes reimplantados e 41 pacientes regularizados, que foram separados conforme o nível da amputação e, após, tiveram seus prontuários médicos analisados.
RESULTS: Foram analisados 81 pacientes com amputação digital (79 homens e 2 mulheres), com idade média de 43 anos e 49 anos (Grupo Amputado e Grupo Reimplante, respectivamente) e 28,4% deles tinham amputação proximal, de acordo com a classificação de Biemer, enquanto 71,6% tinham amputação distal. A ocupação mais comum foi a de pedreiro (19,75%), mas 80,24% eram trabalhadores manuais. 65% dos pacientes retornaram ao trabalho anterior. 77,77% dos pacientes afetaram a mão não dominante, e a serra circular causou 77,77% das amputações. A taxa de sucesso para reimplantes foi de 78%. O tempo de isquemia foi de 9 horas e o tempo de porta-quarto foi de 2 horas. Conclusão: O estudo revelou que as taxas de reimplante foram altas nas condições de isquemia e tempo porta-sala, e a maioria dos pacientes vítimas de amputação traumática do polegar são homens em idade de trabalho e com baixa escolaridade. Nível de Evidência II, Estudo retrospectivo.

OBJECTIVE: Total joint arthroplasty (TJA) has often been used to treat thumb carpometacarpal (CMC) osteoarthritis (OA). However, guidelines for the CMC prosthesis shape remain unclear. This study aimed to identify the effective shape of a ball-and-socket prosthesis in restoring the range of thumb motion after TJA.
METHODS: The participants were 10 healthy young adult men (22-32 years; 26.8 ± 3.57 [mean ± SD]). CT scans were performed in eight static limb positions during abduction and flexion. We defined three design variables (offset R, height H, and neck rotation angle Φ) as the variables that determine the basic shape of the ball-and-socket prosthesis. The ideal values of these design variables were examined based on the results of a 3D motion analysis, which evaluated the change in the posture of the first metacarpal (r, h, and φ corresponding to R, H, and Φ, respectively) relative to the center of rotation (COR) during abduction and flexion. We also simulated the effect of these design variables on the range of thumb motion after TJA using 3D CAD.
RESULTS: We found that the values of r and h averaged over all limb positions were 6.92 ± 1.60 mm and 51.02 ± 1.67 mm, respectively, showing that these values remained constant regardless of limb position. In contrast, φ changed significantly. The simulation results indicated that Φ affected the range of thumb motion after TJA, and Φ = 0° relatively reproduced all limb positions compared to other values.
CONCLUSIONS: Our results suggested that the desirable values of R and H were the average of r and h over several limb positions and that Φ = 0° was effective in restoring the range of thumb motion after TJA. Our results will provide surgeons with new guidelines for selecting a prosthesis.

BACKGROUND: Generalized Joint Hyper-mobility (GJH) can aid in the diagnosis of Ehlers-Danlos Syndrome (EDS), a complex genetic connective tissue disorder with clinical features that can mimic other disease processes. Our study focuses on developing a unique image-based goniometry system, the HybridPoseNet, which utilizes a hybrid deep learning model.
OBJECTIVE: The proposed model is designed to provide the most accurate joint angle measurements in EDS appraisals. Using a hybrid of CNNs and HyperLSTMs in the pose estimation module of HybridPoseNet offers superior generalization and time consistency properties, setting it apart from existing complex libraries.
METHODS: HybridPoseNet integrates the spatial pattern recognition prowess of MobileNet-V2 with the sequential data processing capability of HyperLSTM units. The system captures the dynamic nature of joint motion by creating a model that learns from individual frames and the sequence of movements. The CNN module of HybridPoseNet was trained on a large and diverse data set before the fine-tuning of video data involving 50 individuals visiting the EDS clinic, focusing on joints that can hyperextend. HyperLSTMs have been incorporated in video frames to avoid any time breakage in joint angle estimation in consecutive frames. The model performance was evaluated using Spearman\'s coefficient correlation versus manual goniometry measurements, as well as by the human labeling of joint position, the second validation step.
RESULTS: Preliminary findings demonstrate HybridPoseNet achieving a remarkable correlation with manual Goniometric measurements: thumb (rho = 0.847), elbows (rho = 0.822), knees (rho = 0.839), and fifth fingers (rho = 0.896), indicating that the newest model is considerably better. The model manifested a consistent performance in all joint assessments, hence not requiring selecting a variety of pose-measuring libraries for every joint. The presentation of HybridPoseNet contributes to achieving a combined and normalized approach to reviewing the mobility of joints, which has an overall enhancement of approximately 20% in accuracy compared to the regular pose estimation libraries. This innovation is very valuable to the field of medical diagnostics of connective tissue diseases and a vast improvement to its understanding.

BACKGROUND Congenital hypoplasia of the thumb type IV, also known as floating thumb, is a condition in which 2 small phalanges are attached to the hand with a thin skin bridge. Surgical management options for this condition vary from amputation to flap reconstruction. MATERIAL AND METHODS This retrospective study analyzed 11 infants with congenital hypoplasia of the thumb type IV who underwent surgical reconstruction using a modified vascularized polydactylous hallux flap. The study included 6 male and 5 female infants, aged 6 to 24 months. Functional evaluations and radiographic studies were conducted postoperatively. RESULTS All 11 patients underwent the complete surgical protocol. Successful vascular and nerve anastomoses were performed during the initial procedure, ensuring sufficient blood supply and neural connectivity to the transferred toes. The second operation showed promising outcomes, including improvements in thumb opposition, grasp strength, and overall function. Postoperative assessments demonstrated satisfactory radiographic alignment and no major complications during the follow-up period. CONCLUSIONS The modified vascularized polydactylous hallux flap reconstruction is a viable surgical option for managing congenital hypoplasia of the thumb type IV in infants. This technique effectively restores thumb opposition, grasp strength, and overall hand function, with satisfactory radiographic alignment and minimal complications. The study findings support the efficacy and safety of this surgical approach in addressing this rare congenital anomaly.

BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the \"hotspot region\", which is particularly susceptible to mutation.
METHODS: In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations.
RESULTS: We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein.
CONCLUSIONS: Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.