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1.
J Orthop ; 59: 111-118, 2025 Jan.
Article in English | MEDLINE | ID: mdl-39399760

ABSTRACT

Background: Conservative treatment is the first therapeutical option for central heads metatarsalgia, a common foot condition. However, to our best knowledge, systematic review and meta-analysis of its effectiveness in terms of plantar pressure improvement have not been yet carried out. Our aim was to answer the following research question: Is bespoke or customized orthotic treatment effective for plantar pressure reduction in patients with mechanical metatarsalgia in the central metatarsal heads? Methods: A systematic review and meta-analysis of the effectiveness of bespoke or customised orthotic treatment in terms of plantar pressure reduction beneath the central -2nd to 4th - metatarsal heads in mechanical metatarsalgia patients were carried out. Pubmed database was searched from September to November 2022. All type of related-topic studies were included. Cochrane Collaboration tool was used to assess the risk of bias of each study. Descriptive and frequency analyses were performed with SPSS 25.0 software. Review Manager v5.4.1 software was used to analyse the data using the inverse variance method for continuous outcomes according to a fixed or random effects model. Results: A total of 5 studies met our inclusion criteria, with 158 participants. Bespoke or customised orthotic treatment is effective for the improvement of plantar pressure under 2nd to 4th metatarsal heads in mechanical metatarsalgia patients (MD -37.54 [95 % CI -65.84, -9.24], p = 0.009). Customised orthotic treatment is more effective than no treatment in terms of reducing plantar pressure (MD -78.63 [95 % CI -119.70, -39.16], p = 0.0002), but its effectiveness is similar to standardised footwear, standardised foot orthoses and isolated metatarsal domes. Conclusions: We found conservative bespoke or customised orthotic treatment to be effective for the improvement of plantar pressure under the central metatarsal heads.

2.
Front Med (Lausanne) ; 11: 1454776, 2024.
Article in English | MEDLINE | ID: mdl-39355840

ABSTRACT

Background: Safflower, phellodendron, scutellaria baicalensis, coptis, and gardenia (SPSCG) are medicinal plants with a wide range of anti-inflammatory and antioxidant effects. However, the related mechanism of SPSCG against hand-foot syndrome (HFS) has yet to be revealed. Objective: To investigate the mechanisms of SPSCG in the treatment of HFS using the Network Pharmacology. Methods: Active ingredients and targets of SPSCG for HFS were screened by the Chinese Medicine Systems Pharmacology (TCMSP) and Swiss Target Prediction databases. Potential therapeutic targets were collected from the GeneCards and OMIM databases. Subsequently, protein-protein interactions (PPI), Gene Ontology (GO) annotations, and pathways from the Kyoto Encyclopedia of Genes and Genomes (KEGG) were performed to investigate the potential mechanism of the SPSCG in HFS. Then, molecular docking and molecular dynamics simulations were performed to predict the binding interactions between the active compound and the core target. Finally, vitro experiments were used to verify the repair effect of key ingredients of SPSCG on cell damage caused by 5-Fluorouracil. Results: Quercetin, kaempferol, ß-sitosterol, and stigmasterol were identified as the major active components of SPSCG. GO analysis showed a total of 1,127 biological processes, 42 terms cellular components, and 57 molecular functions. KEGG analysis showed that the MAPK, TNF, and IL-17 signaling pathways were significantly enriched. The PPI analysis discovered that EGFR, CASP3, AKT1, CCND1, and CTNNB1 shared the highest centrality among all target genes. The experimental results confirmed that these SPSCG active ingredients could treat HFS by reducing inflammation reaction and promoting cell damage repair. Conclusion: SPSCG may alleviate HFS by exerting antioxidative effects and suppressing inflammatory responses.

3.
Eur J Radiol ; 181: 111769, 2024 Sep 30.
Article in English | MEDLINE | ID: mdl-39357289

ABSTRACT

OBJECTIVES: To explore whether the improved urate analysis (IUA) algorithm based on spectral parameters can reduce false positives in CT gout images compared with current urate analysis (CUA) algorithm. MATERIALS AND METHODS: This prospective study was performed from May 2022 to May 2023. Spectral feet CT images of suspected gout participants were reconstructed by IUA and CUA algorithm. Qualitative diagnosis of IUA and CUA images was recorded and compared with the reference standard (ultrasound + conventional CT). Artifacts on IUA and CUA images of non-gout participants were recorded and compared; the maximum cross-sectional area of the maximum tophi (SIT-max) on IUA and CUA images of participants with gout were measured and compared. RESULTS: There are 65 participants (mean age, 43.9 years ± 13.1 [SD]; 65 men) with 114 feet studies in the gout group, and 33 participants (mean age, 43.4 years ± 15.0 [SD]; 30 men) with 65 feet studies in the non-gout group. For all 179 feet studies, IUA images had higher specificity (19.2-86.6 % vs. 1.3-44.3 %) and accuracy (63.1-88.8 % vs. 41.3-57.0 %) than CUA images (P < 0.001). In the non-gout group, the reduction rates of artifacts from the nail bed, skin, beam hardening, vascular structures, tendons, and total artifacts on the IUA images compared to the CUA images was 40.5 %, 48.9 %, 74.3 %, 99.2 %, 99.6 %, and 80.0 %, respectively (P < 0.001). For 82 feet studies with tophi, SIT-max was higher on CUA images than IUA images (P < 0.05). CONCLUSION: The improved urate analysis algorithm based on spectral parameters can reduce image artifacts and improve diagnostic efficacy.

5.
J Tissue Viability ; 2024 Sep 26.
Article in English | MEDLINE | ID: mdl-39358181

ABSTRACT

BACKGROUND: The aim was to evaluate the diagnostic value of ESR, CPR, PCT, and WBC in patients with infected diabetic foot ulcer (DFU). METHODS: The MEDLINE, Embase, BIOSIS, Cochrane databases, and Web of Knowledge databases were searched, without language restriction, to July 2023. Original studies were selected that reported the performance of ESR, CPR, PCT, and WBC in diagnosing infected DFU. To assess the diagnostic value of biomarkers for infected DFU, pooled sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), and area under the summary receiver operating characteristic curve (ROC-AUC) were calculated. RESULTS: Ten studies with 765 patients were identified in our meta-analysis. The pooled sensitivity and specificity of ESR was 0.82 (95 % CI: 0.68-0.91) and 0.83 (95 % CI: 0.69-0.91) respectively. The pooled sensitivity and specificity of CRP was 0.81 (95 % CI: 0.65-0.91) and 0.91 (95 % CI: 0.79-0.96) respectively. The pooled sensitivity and specificity of PCT was 0.76 (95 % CI: 0.65-0.85) and 0.89 (95 % CI: 0.78-0.95) respectively. The pooled sensitivity and specificity of WBC was 0.75 (95 % CI: 0.64-0.83) and 0.79 (95 % CI: 0.67-0.88) respectively. CRP showed the best diagnostic accuracy at distinguishing infected DFU from noninfected DFU with an AUC of 0.93, followed by PCT (AUC of 0.89), ESR (AUC of 0.89), and WBC (AUC of 0.84). CONCLUSION: CPR levels had high efficiency in distinguishing infected DFU from noninfected DFU, followed by PCT, ESR and WBC. All of these biomarkers could be helpful for early diagnosis of infected DFU. New biomarkers for improving medical decision in diagnosis of infected DFU are highly desirable.

6.
Article in English | MEDLINE | ID: mdl-39360811

ABSTRACT

Diabetic foot ulcers/chronic wounds are difficult to treat because of dysfunctional macrophage response and decreased phenotype transition from the M1 to M2 status. This causes severe inflammation, less angiogenesis, microbial infections, and small deformation in wound beds, affecting the healing process. The commercial wound dressing material has limited efficacy, poor mechanical strength, extra pain, and new granulated tissue formed in a mesh of gauze. It is desired to create tough, skin-adhesive, antifouling, sustainable M2 phenotype-enabling, and mechanoresponsive drug-releasing hydrogel. To resolve this, zwitterionic poly(sulfobetaine methacrylate) (SB) incorporated with keratin-exfoliated MoS2 and bee-wax nanoparticles were developed to deliver phenytoin upon application of mechanical forces. Human hair keratin was used for exfoliation of MoS2, and bee-wax nanoparticles loaded with phenytoin were used as cross-linkers of SB hydrogel. The cross-linked SB-MO15-B hydrogel has high mechanical properties, with more tensile strength and strain of 118 kPa and 1485%. Under external mechanical force, hydrogel deformed to release phenytoin of 38% (tensile) and 24% (compressive), which was higher compared to static condition (12%). The penetration of phenytoin into skin tissue was also improved by the mechanical force applied to the hydrogel. SB-MO15-B hydrogel effectively activates the polarization of macrophages toward the M2 phenotype, promotes cell proliferation, and also shows superior antibacterial properties. In vivo results demonstrate that hydrogel rapidly promotes diabetic wound repair through fast antiinflammation and M2 macrophage polarization. Therefore, a robust mechanoresponsive hydrogel would provide a new strategy to deliver the drug and also tune the M2 macrophage polarization for chronic wound healing.

7.
J Rehabil Assist Technol Eng ; 11: 20556683241276804, 2024.
Article in English | MEDLINE | ID: mdl-39351287

ABSTRACT

Introduction: Practice of ankle-foot orthoses (AFO) provision for ambulatory children with cerebral palsy is underreported and the literature is not consistent on choice of AFO-design. This study describes clinical practice of AFO provision for children with cerebral palsy and evaluates how clinical practice aligns with existing recommendations. Methods: An online, cross-sectional survey was conducted, inviting all Norwegian orthotists working with children with cerebral palsy. Orthotic practice was investigated using a self-reported survey design. Results: From all eligible orthotists, 54% responded, revealing that AFO provision involves patients, physicians, and physiotherapists at different stages. Patient preference directly influenced the ultimate AFO-design. Shank vertical angle was evaluated by 79%. For children with crouch gait and those with short gastrocnemius, a majority preferred a combination of rigid and articulated/flexible AFO-designs. Instrumented gait analysis was conducted by 51% at AFO delivery stage. Conclusions: The findings show that AFO provision in Norway is collaborative, involving clinical team members and consideration of patient preferences. A discrepancy between clinical practice and existing recommendations for children with crouch gait and those with short gastrocnemius is observed.

8.
Biomed Pharmacother ; 180: 117498, 2024 Sep 30.
Article in English | MEDLINE | ID: mdl-39353317

ABSTRACT

Staphylococcus aureus (S. aureus) infection is the most prevalent and resistant bacterial infection, posing a worldwide health risk. Compared with healthy people, diabetes patients with weak immune function and abnormal metabolism are more vulnerable to bacterial infection, which aggravates the intensity of infection and causes a series of common and dangerous complications, such as diabetes foot ulcer (DFU). Due to metabolic abnormalities of diabetic patients, S. aureus on the skin surface of DFU transitions from a commensal to an invasive infection. During this process, S. aureus resists a series of unfavorable conditions for bacterial growth by altering energy utilization and metabolic patterns, and secretes various virulence factors, causing persistent infection. With the emergence of multiple super-resistant bacteria, antibiotic treatment is no longer the only treatment option, and developing new drugs and therapies is urgent. Regulating the metabolic signaling pathway of S. aureus plays a decisive role in regulating its virulence factors and impacts adjuvant therapy for DFU. This article focuses on studying the impact of regulating metabolic signals on the virulence of S. aureus from a metabolism perspective. It provides an outlook on the future direction of the novel development of antimicrobial therapy.

9.
Int Immunopharmacol ; 143(Pt 1): 113206, 2024 Sep 30.
Article in English | MEDLINE | ID: mdl-39353389

ABSTRACT

Diabetic foot ulcers can lead to severe complications, including infection, gangrene, and even amputation, significantly impacting patients' quality of life. The application of anti-inflammatory compounds loaded into chitosan membranes offers targeted therapeutic effects, reducing inflammation and promoting tissue regeneration. This study evaluates the therapeutic efficacy of T7, a selective COX-2 inhibitor, incorporated into chitosan-polyvinylalcohol (CS-PVA) membranes for diabetic wound treatment. Cytotoxicity analysis showed high cell viability across various T7 concentrations, indicating minimal cytotoxicity. In silico pharmacology identified 98 potential inflammation-related targets for T7, further supported by GO and KEGG enrichment analyses. Developmental toxicity tests on zebrafish embryos indicated no significant toxicity up to 100 µM concentration. SEM and FTIR analyses confirmed the successful incorporation of T7 into the CS-PVA membrane, while XRD analysis indicated structural stability. The drug release assay demonstrated a sustained release profile, crucial for prolonged therapeutic efficacy. Antibacterial activity assays revealed significant inhibition of common pathogens. In vivo wound healing assays showed accelerated wound closure and enhanced collagen deposition, with histological and immunohistochemistry analyses supporting improved tissue architecture and reduced inflammation. Gene expression analysis confirmed reduced inflammatory markers. These findings suggest that T7-loaded CS-PVA membranes offer a promising, multifaceted approach to diabetic wound treatment, combining anti-inflammatory, antimicrobial, and collagen-promoting properties for effective wound healing.

10.
Asian J Surg ; 2024 Sep 30.
Article in English | MEDLINE | ID: mdl-39353773
11.
12.
Foot Ankle Int ; : 10711007241278940, 2024 Oct 01.
Article in English | MEDLINE | ID: mdl-39351892

ABSTRACT

BACKGROUND: The talus is more internally rotated within the ankle mortise in progressive collapsing foot deformity (PCFD) patients. However, no studies have investigated the change in talar axial rotation (AR) in PCFD postoperatively. The primary aim was to investigate the change in talar AR following PCFD reconstruction. Secondary aims were to determine whether talar AR changes were associated with other radiographic measurements or specific procedures, and whether postoperative talar AR was associated with 2-year patient-reported outcome scores. METHODS: Twenty-seven patients older than 18 years who underwent flexible PCFD reconstruction with preoperative and at least 5-month postoperative weightbearing computed tomographic (WBCT) scans and radiographs and had preoperative and at least 2-year postoperative PROMIS scores were included. Patients with talonavicular fusions were excluded. Talar AR was the angle between the transmalleolar axis and talar axis on WBCT scans, with smaller angles representing more internal rotation as described by Kim et al. Hindfoot moment arm, Meary angle, fibulocalcaneal and talocalcaneal distance, subtalar middle facet uncoverage, and talonavicular angle were measured on radiographs. RESULTS: Postoperative talar AR was 49.7 degrees (IQR, 45.9, 57.3), which was more externally rotated than preoperative AR by a median of 8.3 degrees (IQR, 2.2, 15.7) (P > .001). The change in talar AR was not associated with changes in any radiographic parameter. Increasing external talar AR was associated with an increase in postoperative PROMIS pain intensity (rs = 0.38, 95% CI 0.00, 0.67). Lateral column lengthening and subtalar fusion procedures were not associated with changes in talar AR (P > .10). CONCLUSION: PCFD reconstruction results in external rotation of the talus within the ankle mortise. Kim et al found that control patients had approximately 40 to 60 degrees of talar AR, which is similar to this study's corrected position of the talus. However, increasing talar external rotation resulted in worse postoperative PROMIS pain intensity, suggesting the possibility of overcorrecting the internal AR deformity.

13.
Sci Rep ; 14(1): 22788, 2024 10 01.
Article in English | MEDLINE | ID: mdl-39353960

ABSTRACT

This study aims to understand the repercussions of the COVID-19 pandemic on hospitalized patients with peripheral arterial disease (PAD) in China, who did not contract SARS-CoV-2. We conducted a multicenter cross-sectional analysis comparing the characteristics and outcomes of hospitalized PAD patients across two distinct periods: Pre-pandemic (P1, from January 2018 to December 2019) and during the pandemic (P2, from January 2020 to December 2021). During P1, 762 hospitalized patients were treated, with an average age of 72.3 years, while 478 patients were treated in P2, with an average age of 65.1 years. Notably, hospitalized patients admitted during the pandemic (P2) exhibited a significantly higher incidence of chronic limb-threatening ischemia (CLTI, 70% vs 54%), diabetic foot infection (47% vs 29%), and infra-popliteal lesions (28% vs 22%). Furthermore, these patients demonstrated a marked deterioration in their Rutherford category and an increased mean score in the Wound, Ischemia, and foot Infection classification system (WIfI). Treatment during the pandemic emerged as a predictor of reduced procedural success and increased major adverse limb events. Factors such as the presence of diabetic foot infection, renal impairment, and deteriorating WIfI scores were identified as independent risk indicators for major adverse limb events. Our results demonstrate that intensive care was provided to severe cases of PAD even during the challenging circumstances of the COVID-19 pandemic. Despite the unprecedented pressures on healthcare systems, patients with severe PAD, particularly those with CLTI, continued to receive necessary in-patient care. The findings underscore the importance of timely medical interventions and extended follow-up for patients exhibiting high-risk factors.


Subject(s)
COVID-19 , Peripheral Arterial Disease , Humans , COVID-19/epidemiology , COVID-19/complications , Aged , Peripheral Arterial Disease/epidemiology , Cross-Sectional Studies , Female , Male , China/epidemiology , Middle Aged , SARS-CoV-2/isolation & purification , Diabetic Foot/epidemiology , Hospitalization , Pandemics , Risk Factors , Aged, 80 and over
14.
Sci Rep ; 14(1): 22771, 2024 10 01.
Article in English | MEDLINE | ID: mdl-39354073

ABSTRACT

Enhance the efficiency of tibial transverse transport by employing customized 3D-printed osteotomy guide plates and striving to improve precision through CT evaluation for enhanced guide design. 17 diabetic foot patients were treated with the plate for tibial transverse transport. Preoperatively, we collected DICOM data from the affected tibia's CT and designed the geometric parameters of the tibial cortical bone window. A customized 3D-printed osteotomy guide plate was then fabricated using 3D printing technology. Postoperative X-ray and CT evaluations, conducted at two and five weeks post-surgery, assessed five crucial geometric parameters of the bone window. Measurements included the distance from the upper edge of the tibial cortical bone window to the tibial plateau, the distance from the anterior edge of the tibial cortical bone window to the bone ridge, the height of the tibial cortical bone window, the center-to-center distance between the 4.0 mm diameter Schanz pin and the osteotomy Kirschner pin, and the center-to-center distance of the 4.0 mm diameter Schanz pin. These measured parameters were subsequently compared to the preoperative design parameters. The Clinical trial registration number is ChiCTR2400087174. CT measurements showed no significant differences (P > 0.05) from preoperative design parameters across the five evaluated aspects. The average osteotomy duration was 35 ± 15 min with no bone window fractures. The bone window aligned effectively with the tibial shaft, achieving complete incorporation after distraction. A 4 to 8-month postoperative follow-up confirmed full healing of the tibial surgical wound and diabetic foot wounds. Utilizing customized 3D-printed osteotomy guide plates in tibial transverse bone transport surgery enables accurate translation of preoperative virtual designs into real-time procedures, enhancing surgical efficiency and quality.


Subject(s)
Bone Plates , Osteotomy , Printing, Three-Dimensional , Tibia , Tomography, X-Ray Computed , Humans , Osteotomy/methods , Tibia/surgery , Tibia/diagnostic imaging , Female , Middle Aged , Male , Aged , Adult
15.
BMC Vet Res ; 20(1): 444, 2024 Oct 01.
Article in English | MEDLINE | ID: mdl-39354566

ABSTRACT

BACKGROUND: This case report details a long-term follow-up of a hoof melanoma with dermo-epidermal activity (resembling Spreading Superficial Melanoma (SSM)) in a bay horse with a history of a right front hoof keratoma. Melanomas involving the horse's foot are seldom reported and usually diagnosed as anaplastic melanomas based on signalment and post-mortem examination. The clinical-pathological characteristics of the foot melanoma in this bay horse are consistent with SSM-like described in humans, which is considered an intermediate malignant tumour attending their biological behaviour. However, a definitive diagnosis is limited by the single case and the lack of references in horses. CASE PRESENTATION: A 12-year-old bay Andalusian gelding underwent keratoma removal on the lateral aspect of the hoof wall. A partial resection of the hoof wall was performed for this purpose. Additionally, a plaque-like, hyperkeratotic pigmented lesion, 2 × 2X0,4 cm in size, was observed at the lateral aspect of the coronary band and was also resected for histopathological examination. Microscopically, a melanocytic tumour, characterised by small nests of large polygonal or epithelioid cells infiltrating the basal and suprabasal epidermis, the dermo - epidermal junction, and the superficial dermis, was observed. The neoplastic cells exhibited large euchromatic nuclei, prominent nucleoli, moderate pleomorphism and 4 mitotic figures per 2,37mm2; variable amounts of dark granules (melanin) were present in the cytoplasm, as well as in numerous peritumoral macrophages. The immunophenotype of the tumour cells was PNL2 + + + , S100 + + , AE1/AE3-. A diagnosis of melanoma with dermo-epidermal junction and marked intraepidermal activity (consistent with superficial spreading melanoma) was made. A magnetic resonance imaging (MRI) performed, revealed no further invasion into surrounding structures. Treatment was based on surgical resection and multiple local chemotherapy sessions with cisplatin were applied. The biopsies obtained after treatment showed partial regression of the tumour and different stages of healing. After 26 months of follow-up, there was no signs of malignant spreading into surrounding structures including the pedal bone and distal metastasis but a dark - coloured area persists over the lateral aspect of the coronary band. CONCLUSIONS: This case presents a concomitant keratoma and melanoma with dermo - epidermal activity, resembling a spreading superficial melanoma. After a follow - up of 26 months the horse remains healthy and sound providing new information for clinicians and pathologists. Despite the poor prognosis associated with foot malignant melanocytic tumours, it is important that an early and accurate diagnosis is reached through different diagnostic modalities such as advanced imaging techniques and histopathology. Additionally, these findings demonstrate that the current classification and prognosis for equine foot melanomas are insufficient.


Subject(s)
Foot Diseases , Hoof and Claw , Horse Diseases , Melanoma , Skin Neoplasms , Horses , Melanoma/veterinary , Melanoma/pathology , Melanoma/diagnosis , Melanoma/surgery , Animals , Horse Diseases/pathology , Horse Diseases/surgery , Horse Diseases/diagnosis , Male , Hoof and Claw/pathology , Skin Neoplasms/veterinary , Skin Neoplasms/pathology , Skin Neoplasms/diagnosis , Skin Neoplasms/surgery , Foot Diseases/veterinary , Foot Diseases/pathology , Foot Diseases/diagnosis , Keratosis/veterinary , Keratosis/pathology , Keratosis/diagnosis
16.
Int J Vet Sci Med ; 12(1): 134-147, 2024.
Article in English | MEDLINE | ID: mdl-39359867

ABSTRACT

Foot-and-Mouth Disease (FMD) is a contagious, blistering disease caused by the Foot-and-Mouth Disease virus (FMDV), which affects livestock globally. Currently, no commercial antiviral agent is available for effective disease control. This study investigated the antiviral potential of natural-derived alkaloids against FMDV in BHK-21 cells. Twelve alkaloids were assessed for their antiviral activities at various stages of FMDV infection, including pre-viral entry, post-viral entry, and prophylactic assays, as well as attachment and penetration assays by evaluating cytopathic effect reduction and directed-virucidal effects. The results showed that ipecac alkaloids, cephaeline (CPL) and emetine (EMT), exhibited dual effects with robust antiviral efficacy by reducing cytopathic effect and inhibiting FMDV replication in a dose-dependent manner. Evaluation through immunoperoxidase monolayer assay and RT-PCR indicated effectiveness at post-viral entry stage, with sub-micromolar EC50 values for CPL and EMT at 0.05 and 0.24 µM, respectively, and high selective indices. Prophylactic effects prevented infection with EC50 values of 0.23 and 0.64 µM, respectively. Directed-virucidal effects demonstrated significant reduction of extracellular FMDV, with CPL exhibiting a dose-dependent effect. Furthermore, the replicase (3Dpol) inhibition activity was identified using the FMDV minigenome assay, which revealed strong inhibition with IC50 values of 0.15 µM for CPL and 4.20 µM for EMT, consistent with the decreased negative-stranded RNA production. Molecular docking confirmed the interaction of CPL and EMT with residues in the active site of FMDV 3Dpol. In conclusion, CPL and EMT exhibited promising efficacy through their dual effects and provide an alternative approach for controlling FMD in livestock.

17.
Mol Syndromol ; 15(5): 389-397, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39359946

ABSTRACT

Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in AHDC1 have been reported as causal for XGS, comprising mainly de novo stop-gain and frameshift events, but also missense variants, deletions, and a duplication of the locus. Case Presentation: We hereby report 2 patients with clinical features of XGS. In the first patient, a de novo interstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1 was initially suspected by trio exome sequencing and subsequently confirmed by shallow genome sequencing. In the second patient, a de novo deletion comprising most of the 5' untranslated region of AHDC1 was detected by genome sequencing. Conclusion: We identified the smallest deletion comprising AHDC1 reported so far by shallow genome sequencing as well as another small AHDC1 deletion by genome sequencing. These methods represent useful techniques for the identification and confirmation of small deletions and structural variants. Furthermore, our data provide additional evidence of AHDC1 haploinsufficiency as a disease mechanism in XGS. Clinically, foot deformity, skin and connective tissue abnormalities observed in one of the patients are consistent with other reported cases of XGS. These findings suggest that these manifestations could be considered as more prevalent characteristics, underscoring the importance of in-depth phenotyping.


The neurodevelopmental disorder Xia-Gibbs syndrome is associated with symptoms of various organ systems. It is due to changes in the AHDC1 gene. Using sophisticated genetic testing procedures, two different deletions as a particularly rare genetic cause were identified in 2 patients. Here, we provide a summary of their individual characteristics in comparison to those of other patients with similar deletions that have been reported in the literature or public databases.

18.
Cureus ; 16(9): e68423, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39360062

ABSTRACT

Müller-Weiss disease (MWD) is a poorly understood orthopedic condition first described in 1927 that causes chronic pain across the midfoot and hindfoot. The etiology is uncertain but includes navicular dysplasia, osteochondritis, and trauma. The initial management is conservative, aiming to reduce the patient's symptoms, and includes analgesia, footwear, and activity modification. Surgical interventions such as joint fusion are considered when conservative measures fail, but there is little recorded for treatment beyond this. This case outlines the difficult management of a 52-year-old female patient with a long history of MWD. She had no history of previous trauma or neurological problems. A talonavicular fusion failed to unite, resulting in significant necrosis of the lateral navicular and navicular-cuneiform arthritis. We describe the novel use of a reverse vascularized pedicled fibular flap and extended midfoot fusion to manage the navicular bone defect. At six-year follow-up, the patient remains virtually pain-free and has returned to work with radiographs confirming good incorporation of the bone graft. We understand this to be the first documented use of a reverse vascularized fibular bone graft for recalcitrant MWD. Given the excellent clinical outcome in this case, surgeons should consider this combined ortho-plastics approach in the management of complex non-union with a bone defect in the midfoot.

19.
Cureus ; 16(9): e68470, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39360070

ABSTRACT

The complete loss of articular relationships between the talus and navicular bone is known as talonavicular joint (TNJ) dislocation. Medial dislocation of the TNJ is more common than lateral dislocation. Lateral dislocation is usually associated with a fracture of the calcaneocuboid joint. Surgeons encounter difficulties when treating these dislocations. It occurs following high-energy trauma and is managed with immediate closed reduction of the joint and immobilization, but some complicated cases require open reduction and fixation to achieve alignment, strength, and function. This case report describes a six-month-old neglected case of TNJ dislocation managed with corrective osteotomy and subtalar fixation. Fusion of the talonavicular and talocalcaneal joints was performed. This procedure had a satisfactory outcome, as the patient was completely relieved of pain.

20.
Cureus ; 16(9): e68411, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39360107

ABSTRACT

Os vesalianum pedis (OVP) is one of the exquisite accessory ossicles adjacent to the foot's fifth metatarsal base. Though most of the OVP cases are asymptomatic, only a handful of patients who presented with lateral foot pain have been reported. A 36-year-old professional badminton player presented with swelling and tenderness in the right foot at the metatarsal base. An initial radiographic examination revealed a pseudo-Jones fracture. As a result of persistent pain and concerns regarding OVP, a reassessment of the X-ray was conducted. The examination revealed a radiolucent line with well-defined and well-corticated edges, uniformly separating the ossicle from the metatarsal in the right foot, consequently leading to the diagnosis of OVP. Following diagnosis, the patient was managed conservatively. Os vesalianum is not a common source of pain on the midfoot's lateral side. An oblique radiograph is an appreciable strategy to demonstrate the accessory ossicle. Thus, a careful clinical examination, coupled with the correlation of radiological findings, is a prerequisite to prevent misdiagnosis and overtreatment thereafter.

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