Computer-assisted patient identification tool in inborn errors of metabolism - potential for rare disease patient registry and big data analysis.

BACKGROUND: Patient registries are crucial for rare disease management. However, manual registry construction is labor-intensive and often not user-friendly. Our goal is to establish Hong Kong's first computer-assisted patient identification tool for rare diseases, starting with inborn errors of metabolism (IEM). METHODS: Patient data from 2010 to 2019 was retrieved from electronic databases. Through big data analytics, patient data were filtered based on specific IEM-related biochemical and genetic tests. Clinical notes were analyzed using a rule-based natural language processing technique called regular expression. The algorithm classified each extracted paragraph as "IEM-related" or "not IEM-related." Pathologists reviewed the paragraphs for curation, and the algorithm's performance was evaluated. RESULTS: Out of 46,419 patients with IEM-related tests, the algorithm identified 100 as "IEM-related." After pathologists' validation, 96 cases were confirmed as true IEM, with 1 uncertain case and 3 false positives. A secondary ascertainment yielded a sensitivity of 92.3% compared to our previously published IEM cohort. CONCLUSIONS: Our artificial intelligence approach provides a novel method to identify IEM patients, facilitating the creation of a centralized, computer-assisted rare disease patient registry at the local and national levels. This data can potentially be accessed by multiple stakeholders for collaborative research and to enhance healthcare management for rare diseases.

Case Review of Tibiotalocalcaneal Arthrodesis with Distal Femoral Locking Plate Through a Lateral Approach.

BACKGROUND: Herein, we present a case series of tibiotalocalcaneal arthrodesis (TTCA) with a distal femoral locking plate and describe the short-term clinical and radiographic results of the procedure. METHODS: We performed a case review of four patients with hindfoot and ankle pathology who had been treated with a TTCA using a distal femoral locking plate (Depuy Synthes, Zimmer Biomet) by a single surgeon (H.A.H.) from January 2018 to December 2020. RESULTS: At final follow-up, there was a 75% complication rate (3/4) with two developing a nonunion of the ankle joint and one developing a postoperative wound and surgical site infection. CONCLUSIONS: Lateral locking plate fixation with a distal femoral locking plate system may be an alternative fixation option for tibiotalocalcaneal fusions in complex patients. However, a larger sample size with longer term follow-up is needed to make any significant recommendations on the use of this plating system.

Short- to Intermediate-Term Radiographic Outcomes Following Cotton Osteotomy.

The cotton osteotomy or the medial cuneiform opening wedge osteotomy has been a common adjunct procedure in flatfoot reconstruction to correct for forefoot varus or a dorsiflexed first ray. The main goal of the study is to retrospectively review outcomes specifically in the short-intermediate term for the cotton osteotomy. The medical records of a single foot and ankle surgeon (PRB) were reviewed for patients who met inclusion and exclusion criteria. The study period was from January 2006 to October 2018. The analysis was performed using information obtained from chart-review to examine union and complication rates, as well as changes in the cuneiform articular angle based on graft size and type. A total of 71 feet in 61 patients underwent cotton osteotomies for flatfoot reconstruction. Overall complication rate was 5.6% (4/71) with 2 nonunions (2/47) in those that had radiographic follow-up of greater than 9 months. Change in cuneiform articular angle (CAA) showed 0.91° of correction per 1-millimeter increase in graft wedge size from preoperative to 3 weeks. Change for anterior-posterior medial cuneiform bisection dorsal length (AP length) was 0.70 mm per 1 mm of graft used from preoperative to 3 weeks. 6 weeks to 10 weeks showed statistically significant changes in the CAA (p = .01) and the AP length (p = .002). The cotton osteotomy showed statistically significant radiographic loss of correction between the 6- and 10-week time points when patients were allowed to begin weightbearing. Metal grafts may provide maintenance of correction which warrants future studies on their efficacy.

Reoperation, reamputation, and new ulceration following complete or partial toe amputation among diabetic and non-diabetic patients.

AIMS: To compare the number of reoperations, reamputations, and new ulcers following toe amputation in diabetic and non-diabetic patients with sub-group analysis on index amputation level. METHODS: One-hundred sixteen patients with a complete (CTA) or partial (PTA) toe amputation and minimum of 12-month (12 M) follow-up were identified in electronic medical records. The number of reoperations and reamputations, number and location of new ulcers, and final amputation level of the ipsilateral extremity were compared between diabetic and non-diabetic patients and between those with CTA and PTA at 12 M and final follow-up (FFU). RESULTS: Diabetic patients had significantly more reoperations, reamputations, and new ulcers than non-diabetic patients at 12 M and FFU. There were no differences in reoperations, reamputations, or new ulcer location between CTA and PTA; however, patients with PTA developed more new ulcers at 12 M and FFU and were more likely to have a distal final amputation level compared to those with CTA. CONCLUSIONS: Diabetic patients required significantly more reoperations and reamputations following a toe amputation and developed more new ulcers than non-diabetic patients regardless of index amputation level. These high rates among diabetic patients highlight the complications encountered following toe amputation and emphasize the need for close, multi-disciplinary care.

Refractive index matched polymeric and preceramic resins for height-scalable two-photon lithography.

Nanofabrication techniques that can generate large and complex 3D structures with nanoscale features are becoming increasingly important in the fields of biomedicine, micro-optics, and microfluidics. Direct laser writing via two-photon polymerization (DLW-TPP) is one such technique that relies on nonlinear absorption of light to form nanoscale 3D features. Although DLW-TPP provides the required nanoscale resolution, its built height is often limited to less than a millimetre. This height limitation is driven by the need to tightly focus the laser beam at arbitrary depths within the photopolymer. This requirement necessitates matching the photopolymer's refractive index to specific values but the required techniques have not been disseminated widely in the open scientific literature. To address this knowledge gap, we test two universal, different approaches to generate refractive index-matched polymeric and preceramic resins and demonstrate their performance by printing of fine submicron features in 3D structures as tall as 2.5 mm. Specifically, we achieve index-matching by mixing commercially-available resins or covalent modification of functional monomers. This work investigates the relationship of voxel shape to RI mismatch, and presents tuning of RI through mixing and covalent modification to a nonconventional material system of preceramic resin which has never been demonstrated before. We demonstrate the material flexibility by generating 3D silicon oxycarbide structures from preceramic resists while simultaneously eliminating the part-height limitation of conventional DLW-TPP.