Stepping Forward: A Scoping Systematic Literature Review on the Health Outcomes of Smart Sensor Technologies for Diabetic Foot Ulcers.

Diabetic foot ulcers (DFUs) pose a significant challenge in diabetes care, demanding advanced approaches for effective prevention and management. Smart insoles using sensor technology have emerged as promising tools to address the challenges associated with DFU and neuropathy. By recognizing the pivotal role of smart insoles in successful prevention and healthcare management, this scoping review aims to present a comprehensive overview of the existing evidence regarding DFU studies related to smart insoles, offloading sensors, and actuator technologies. This systematic review identified and critically evaluated 11 key studies exploring both sensor technologies and offloading devices in the context of DFU care through searches in CINAHL, MEDLINE, and ScienceDirect databases. Predominantly, smart insoles, mobile applications, and wearable technologies were frequently utilized for interventions and patient monitoring in diabetic foot care. Patients emphasized the importance of these technologies in facilitating care management. The pivotal role of offloading devices is underscored by the majority of the studies exhibiting increased efficient monitoring, prevention, prognosis, healing rate, and patient adherence. The findings indicate that, overall, smart insoles and digital technologies are perceived as acceptable, feasible, and beneficial in meeting the specific needs of DFU patients. By acknowledging the promising outcomes, the present scoping review suggests smart technologies can potentially redefine DFU management by emphasizing accessibility, efficacy, and patient centricity.

Pectoralis major rupture in body builders: a case series including anabolic steroid use.

BACKGROUND: Rupture of the pectoralis major (PM) muscle is a rare injury, with increasing incidence over the last decades, mainly due to participation in weightlifting and contact sports. Surgical management of PM injuries has been related with superior functional outcome, faster return to activities, better cosmesis and higher level of patients' satisfaction. The aim of the study is to present our experience in the management of this rare clinical entity and to correlate the use of anabolic steroids in the occurrence of the injury and the impact of type of injury, method of reconstruction and anabolic steroids on the post-operative outcome. CASES: We present a series of six male bodybuilding athletes who sustained PM rupture during weightlifting. We recorded the location & type of injury, the history and type of anabolic steroids use, the method of repair and the post-operative outcome. TREATMENT AND OUTCOMES: The mean follow-up period was 16 (12-24) months. All patients treated surgically had excellent results according to Bak criteria and returned to full activity within 5.4 (5-7) months following surgical reconstruction. No post-operative complications were recorded, despite the continued use of anabolic steroids, however one patient died from myocardial infarction within a year of surgical treatment. CONCLUSIONS: PM rupture is an injury with increasing incidence within bodybuilding athletes probably not related to the dominance of the limb. Fixation of the tendon with suture anchors results in excellent clinical outcome and patient's satisfaction postoperatively regardless the chronicity of the repair. Our observations in these cases suggest that anabolic steroids use may contribute to the injury due to an excessive upward adjustment of the athlete's goals in lifting weights and moreover the continuation of administration even in the recovery period does not seem to have a negative effect either on the time or on the level of adequate functional recovery postoperatively.

Failure in diagnosis and under-treatment of osteoporosis in elderly patients with fragility fractures.

We evaluated whether osteoporosis is adequately managed and treated in patients suffering from fragility fractures. Factors that influenced osteoporosis diagnosis and treatment rates were also assessed. To this end, patients with the principal diagnosis of low-energy hip, vertebral, or distal radius fractures were recruited for the study. Collected data included risk factors for osteoporosis, history of previous fractures, known history of osteoporosis, and osteoporosis treatment at the time of admission. The patients' prefracture risk profile was also assessed to determine whether osteoporosis could have been identified prior to the index fracture. We identified 308 patients with fragility fractures, including 214 hip, 41 vertebral, and 53 distal radius fractures. Overall, 238 patients (77.3%) had at least one risk factor for osteoporosis. Eighty-eight patients (28.6%) had sustained ≥ 1 prior fragility fractures in the past. However, only 79 patients (25.6%) were aware that they had osteoporosis and even fewer (66 patients, 21.4%) had been receiving osteoporosis treatment preceding the current admission. Anti-osteoporotic agents were more commonly prescribed in patients 66-75 years old (p = 0.008), with a family history of osteoporosis (p = 0.009) or history of a prior fragility fracture (p = 0.012). The treatment rate was higher in women than men (p = 0.026) and in patients with vertebral or multiple prior fractures compared to patients with prior hip fractures. The current study provides evidence that individuals who experience fragility fractures are not adequately managed for osteoporosis. Only few of the historically known risk factors for osteoporosis were adequately recognized and associated with osteoporosis evaluation and treatment.

Thumb duplication: molecular analysis of different clinical types.

PURPOSE: Molecular analysis of different types of thumb duplication and identification of new suspected gene mutations. MATERIALS AND METHODS: In a series of patients operated for polydactyly, DNA was extracted from blood samples collected preoperatively. Among these, the samples of two patients with thumb duplication (Wassel types III and IV) were initially selected for molecular analysis. The method of Clinical Exome Solution was used for the study of the phenotype-involved genes. Next-generation sequencing (NGS) was performed on a NextSeq-500 Platform (Illumina), and Sophia DDM® SaaS algorithms were used for the bioinformatics analysis of the data. RESULTS: In total, 8-including 4 new-mutations were detected in CEP290 (1 mutation), RPGRIP1 (2 mutations), TMEM216 (2 mutations), FBN1 (1 mutation), CEP164 (1 mutation), and MEGF8 (1 mutation) genes. NGS revealed 3 mutated genes in the patient with Wassel III thumb duplication and 5 mutated genes in the patient with Wassel IV duplication. The molecular analysis revealed that the patients had 2 mutated genes in common, but they only shared one common mutation. CONCLUSION: The new detected mutations are most probably associated with thumb duplication, as they belong to genes with already described mutations causing ciliopathies, often including polydactyly in their phenotype. Recognition of these mutations will be helpful to prenatal diagnosis, operative treatment strategy prediction, and possible future experimental applications in gene therapy.

MR angiogram confirms sustained blood flow in 1,2 ICSR artery of vascularized bone grafting in scaphoid nonunion treatment.

PURPOSE: To evaluate the functioning of 1,2 intercompartmental supraretinacular artery (ICSRA) in vascularized bone grafting (VBG) of scaphoid nonunions with avascular necrosis of proximal pole. MATERIALS AND METHODS: Fourteen patients with scaphoid nonunion were treated operatively with 1,2 ICSRA VBG. Viability of the pedicle artery was evaluated by MR angiography with intravenous contrast agent. RESULTS: In 13 out of 14 patients, the 1,2 ICSR artery was found to be patent and functional. Revascularization of scaphoid proximal pole was revealed in all cases, and nonunion healing was confirmed as well. CONCLUSION: 1,2 ICSRA VBG in scaphoid nonunion is an effective surgical technique. It combines the advantages of bone grafting and vascular supply via the transferred pedicle artery which seems to be functional postoperatively if a meticulous operative technique is used.

Management of scaphoid nonunions with vascularized bone grafts from the distal radius: mid- to long-term follow-up.

Scaphoid nonunion represents a challenging problem that leads to disability if neglected. Vascularized bone grafts are proposed to augment the local biology and increase the likelihood of union but long-term outcomes are sparse. In this work, we present the mid- to long-term outcome of 140 scaphoid nonunions managed with vascularized bone grafts from the distal radius. Sixteen patients underwent concomitant closed wedge osteotomy of the distal radius because of arthritic changes. There were 130 males and ten females, with mean time from injury to surgery 3.3 years. Delayed presentation was associated with arthritic changes. Forty-two patients had avascular necrosis of the proximal pole and sixteen had more severe arthritic changes. The mean follow-up was 10 years. Pain decreased postoperatively but range of motion did not improve but only in early reconstructions. Grip strength reached 79% of the non-injured hand. Mayo modified wrist score improved from 56 to 84 (p < 0.001). Except one, all the rest 139 nonunions healed in a mean time of 9 weeks. MRI evaluation in 77 patients revealed healing at a mean of 3 months postoperatively even in cases of avascular necrosis. Scaphoid length, carpal height, and scapholunate angle increased, but capitolunate did not change significantly. The presence of arthritis preoperatively was associated with progression of arthritic changes after 10 years. Treatment of scaphoid nonunions with vascularized bone grafts from distal radius reliably led to highest rate of bone healing with good mid- to long-term outcomes. Enhancement of the local biology and reconstitution of scaphoid and carpal height resulted in improved function mostly in early interventions.

Patient-reported quality of life after primary major joint arthroplasty: a prospective comparison of hip and knee arthroplasty.

BACKGROUND: To investigate and compare the impact of primary hip (THA) and knee (TKA) arthroplasty on quality of life in patients with osteoarthritis, to determine patients' satisfaction with total joint arthroplasty, and to detect the effect of patients' demographic and clinical characteristics on outcome. METHODS: Three hundred seventy eight (378) patients with hip (174) and knee (204) osteoarthritis undergoing total joint arthroplasty (174 THA-204 TKA) were assessed pre- and post-operatively (6 weeks, 3, 6, and 12 months) using the Western Ontario and McMaster Osteoarthritis Index (WOMAC) and Centre for Epidemiological Studies Depression Scale (CES-D10). The patients' satisfaction with the results of total joint arthroplasty was also assessed. Differences were analyzed using general linear model for repeated measures. RESULTS: The one-year response rate was 97 % for THA and 90 % for TKA. WOMAC and CES-D10 scores improved significantly after one year for both THA and TKA (P < 0.0001). The improvement in WOMAC total score was significantly greater for TKA patients (P < 0.0001 at 12 months). WOMAC pain and stiffness improved earlier for THA (6 weeks), while TKA had equivalent improvements at 3 and 6 months respectively. Both THA/TKA displayed significant improvement of WOMAC function at 3 months but TKA had greater improvement. Age, body mass index, residence, education and social support were not significant predictors of quality of life after total joint arthroplasty. One year postoperatively 88 % of patients were satisfied. CONCLUSIONS: WOMAC and CES-D10 improved significantly one year postoperatively. Although pain and stiffness improved earlier in THA, functional improvement was inferior in THA compared to TKA.

Operative management of humeral nonunions. Factors that influence the outcome.

UNLABELLED: The purpose of this study is to present the outcome of surgically treated humeral nonunions and find factors that affect the outcome. Forty-two patients with humeral nonunions (30 shaft, 7 proximal and 5 distal) were reviewed in a prospective manner. Treatment was based on a specific algorithm. Demographics, time to union, range of motion, functional outcome and complications were recorded and analysed. RESULTS: Mean follow-up was 78 months and mean time to union was 4.3 months. Infection was associated with delayed union of the pseudarthrosis, while range of motion was negatively affected by the location (proximal) and the AO type of the initial fracture. Complication rate was 17%. CONCLUSION: The surgical management of humeral nonunions yields a favourable outcome with reduced rate of complications. Infection prolonged healing time, while proximal location of the nonunion and the type B or C fracture according to AO/OTA classification adversely affected range of motion.

CER1 gene variations associated with bone mineral density, bone markers, and early menopause in postmenopausal women.

BACKGROUND: Osteoporosis has a multifactorial pathogenesis characterized by a combination of low bone mass and increased fragility. In our study, we focused on the effects of polymorphisms in CER1 and DKK1 genes, recently reported as important susceptibility genes for osteoporosis, on bone mineral density (BMD) and bone markers in osteoporotic women. Our objective was to evaluate the effect of CER1 and DKK1 variations in 607 postmenopausal women. The entire DKK1 gene sequence and five selected CER1 SNPs were amplified and resequenced to assess whether there is a correlation between these genes and BMD, early menopause, and bone turnover markers in osteoporotic patients. RESULTS: Osteoporotic women seem to suffer menopause 2 years earlier than the control group. The entire DKK1 gene sequence analysis revealed six variations. There was no correlation between the six DKK1 variations and osteoporosis, in contrast to the five common CER1 variations that were significantly associated with BMD. Additionally, osteoporotic patients with rs3747532 and rs7022304 CER1 variations had significantly higher serum levels of parathyroid hormone and calcitonin and lower serum levels of osteocalcin and IGF-1. CONCLUSIONS: No significant association between the studied DKK1 variations and osteoporosis was found, while CER1 variations seem to play a significant role in the determination of osteoporosis and a potential predictive role, combined with bone markers, in postmenopausal osteoporotic women.

Expression profile of osteoprotegerin, RANK and RANKL genes in the femoral head of patients with avascular necrosis.

INTRODUCTION: Femoral head avascular necrosis (AVN) is a recalcitrant disease of the hip that leads to joint destruction. Osteoprotegerin (OPG), Receptor Activator of Nuclear Factor kappa-B (RANK) and RANK ligand (RANKL) regulate the balance between osteoclasts-osteoblasts. The expression of these genes affects the maturation and function of osteoblasts-osteoclasts and bone remodeling. In this study, we investigated the molecular pathways leading to AVN by studying the expression profile of OPG, RANK and RANKL genes. MATERIAL AND METHODS: Quantitative Real Time-PCR was performed for evaluation of OPG, RANK and RANKL expression. Analysis was based on parallel evaluation of mRNA and protein levels in normal/necrotic sites of 42 osteonecrotic femoral heads (FHs). OPG and RANKL protein levels were estimated by western blotting. RESULTS: The OPG mRNA levels were higher (insignificantly) in the necrotic than the normal site (p > 0.05). Although the expression of RANK and RANKL was significantly lower than OPG in both sites, RANK and RANKL mRNA levels were higher in the necrotic part than the normal (p < 0.05). Protein levels of OPG and RANKL showed no remarkable divergence. CONCLUSIONS: Our results indicate that differential expression mechanisms for OPG, RANK and RANKL that could play an important role in the progress of bone remodeling in the necrotic area, disturbing bone homeostasis. This finding may have an effect on the resulting bone destruction and the subsequent collapse of the hip joint.

Vascularized bone grafting and distal radius osteotomy for scaphoid nonunion advanced collapse.

PURPOSE: To determine the outcome of an alternative treatment for wrists with stages I to III scaphoid nonunion advanced collapse using a closing-wedge osteotomy of the distal radius and a vascularized bone graft for scaphoid reconstruction. METHODS: Twelve patients with scaphoid nonunion advanced collapse (stage I, 3; stage II, 7; stage III, 2) treated with a vascularized bone graft interposition for the scaphoid and a closing-wedge osteotomy for the distal radius were retrospectively reviewed. Data were obtained and analyzed from the radiographs, and we assessed the pre- and postoperative range of motion, grip strength, visual analog scale pain score, as well as the Mayo and Disabilities of the Arm, Shoulder, and Hand (DASH) functional scores. RESULTS: Follow-up ranged from 2 to 11 years. All scaphoid nonunions united after an average of 9 weeks, and all osteotomies united after an average of 8 weeks. Although there was radiographic progression of the scaphoid nonunion advanced collapse stage in 5 of 12 cases, there was major improvement in visual analog scale pain score (from 6.1 to 0.8) and in both Mayo (from 64 to 85) and DASH (from 40 to 9) functional scores. The range of motion remained unchanged, and grip strength trended toward minor improvement. The carpal height was preserved, and the dorsal intercalated segmental instability was corrected. CONCLUSIONS: Scaphoid reconstruction with vascularized bone graft combined with closing-wedge distal radius osteotomy preserved wrist function for scaphoid nonunion advanced collapse. The method offers pain relief and does not compromise wrist motion or grip strength. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Tumors and tumor-like lesions mimicking carpal tunnel syndrome.

INTRODUCTION: Tumors and tumor-like lesions in or around the median nerve are uncommon causes of carpal tunnel syndrome (CTS). The purpose of the present study is to highlight the diagnostic approach and point out the profile of patients with CTS and potential underlying pathology. MATERIALS AND METHODS: Twenty-eight patients with 32 affected hands had CTS correlated to a mass in or around the nerve. In 20 hands a palpable mass was present. Diagnostic workup included nerve conduction studies, ultrasound and/or MRI. Pre- and postoperative examination included two-point discrimination (2PD), grip strength, visual analogue scale (for pain) (VAS) and disabilities of the arm, shoulder and hand (DASH) scores. RESULTS: Twelve of 28 patients were young (range 9-38 years) and 10 were male. Nerve compression was due to 27 extraneural lesions (8 abnormal muscles, 5 lipomas, 7 tenosynovitis, 4 vascular tumors, 2 ganglia, 1 Dupuytren's fibromatosis) and five intraneural tumors (three schwannomas, one neurofibroma, one sarcoma). Nerve decompression and excision of extraneural lesions were performed in all cases whereas in intraneural tumors, decompression was followed by excision in most cases and nerve grafting in one. Mean follow-up was 22 months (12-105 months). Extraneural masses were associated with a better outcome than nerve tumors. The mean postoperative VAS/DASH scores were 0.3/16.2 in extraneural lesions and 2.5/22 in intraneural lesions. The 2PD improved gradually in all patients (mean pre- and postoperative 12 and 5 mm). The mean grip strength increased from 28 to 31.3 kg postoperatively. CONCLUSIONS: Although rare, the surgeon should include in the differential diagnosis of CTS the unusual cause of tumors and tumor-like lesions, especially when the patients' profile is not typical (young, male, no repetitive stress or manual labor). In addition, the presence of a palpable mass at the distal forearm or palm dictates the need for imaging studies. The extent, location and aggressiveness of the mass will determine the approach and type of procedure.

HOW TO PREVENT HAND INJURIES - REVIEW OF EPIDEMIOLOGICAL DATA IS THE FIRST STEP IN HEALTH CARE MANAGEMENT.

BACKGROUND: Hand injuries are common affecting all ages, genders, and geographic regions. They can result in long term disability and mortality, while they place a significant financial burden in society. Although, hand injuries can be prevented. Preventive strategies can be designed, but knowledge of injuries' epidemiological characteristics is required beforehand. METHODS: We performed a review of the current literature related to hand injuries to identify their incidence, patients' demographics, type, mode, and time of the injury. RESULTS: Hand injuries constitute 6.6% to 28.6% of all injuries presenting to the Emergency Department and 28% of injuries to the musculoskeletal system. They mainly affect young male labourers. Occupational and home accidents are the commonest injury modalities, while traffic road accidents constitute a significant reason for hand injuries as well. Lacerations account for most hand injuries, followed by crush injuries, fractures and amputations. Most occupational injuries occur in the beginning of the week and especially during the morning shift, while there has been identified an increase in the number of hand injuries during the summer months. CONCLUSIONS: Hand injuries are an important health problem with impact on patient's life and on the society. Although they can be prevented. Preventive strategies need to be addressed towards many directions and people's activities, since prevention will have an important impact on people's quality of life and society's well-being.

State of the art review. Upper extremity revision nerve compression surgery.

Although surgical release of upper extremity nerve compression syndromes is highly effective, persistence or recurrence of symptoms and signs may occur. Thorough investigation is necessary in this situation before treatment is recommended. If the symptoms cannot be explained by other pathology than compression of the affected nerve and if conservative management has not provided improvement, reoperation may be considered. This review provides an overview of the diagnostic and surgical considerations in the revision of carpal tunnel syndrome, cubital tunnel syndrome and thoracic outlet syndrome.Level of evidence: V.

Upper extremity vascular injuries: Etiology, management and outcome.

BACKGROUND: Vascular injuries of the upper extremities are considered relatively rare injuries affecting mostly the young population. They often are complex injuries accompanied by other musculoskeletal trauma or trauma in other anatomic locations. Their management is challenging since they can lead to disabilities with major socioeconomic effects. AIM: To analyze data about the mechanism of injury, the management algorithm and functional outcomes of vascular injuries of the upper extremity. METHODS: One hundred and fifteen patients (96 males and 19 females) with arterial injuries of the upper extremity treated in a tertiary trauma center from January 2003 to December 2022 was conducted. Mean patients' age was 33.7 years and the mean follow up time was 7.4 years. Patients with Mangled Extremity Severity Score ≥ 7 and Injury Severity Score ≥ 20, previous upper limb surgery or major trauma and any neuromuscular or psychiatric disease were excluded, from the study. RESULTS: A penetrating trauma was the most common cause of injury. The radial artery was the artery injured in most of the cases (37.4%) followed by the ulnar (29.5%), the brachial (12.1%) and the axillary (6%). A simultaneous injury of both of the forearm's arteries was in 15.6% of the cases. In 93% of the cases there were other concomitant musculoskeletal injuries of the extremity. Tendon lacerations were the most common, followed by nerve injuries. The postoperative functional scores (full Disabilities of the Arm, Shoulder, and Hand and VAS) had very satisfactory values. CONCLUSION: Although vascular injuries of the upper extremity are rare, they may occur in the context of major combined musculoskeletal trauma. Although a multidisciplinary approach is essential to optimize outcome, the ability of trained hand surgeons to repair all injuries in combined vascular and musculoskeletal upper extremity trauma, excluding isolated vascular injuries, ensures shorter operative times and better functional outcomes.

Bone morphogenetic proteins (BMPs) expression in the femoral heads of patients with avascular necrosis.

Avascular necrosis (AVN) is a disorder of the bone repair process which usually results in femoral head (FH) destruction. Bone morphogenetic proteins (BMPs) are the key proteins regulating bone remodelling and healing. BMPs gene expression levels were analyzed in the normal and necrotic sites of osteonecrotic FHs. Quantitative RT-PCR for BMP-2, -4, -6, -7 genes was performed in bone tissue samples from 47 osteonecrotic FHs. Protein levels of BMP-2, -4, -6 were estimated by Western Blot. Statistical analysis was performed using the Wilcoxon signed rank test. BMP-2 and BMP-6 mRNA levels were higher in the normal than the necrotic site (normal/necrotic: 16.8/6.8 and 1.75/1.64, respectively). On the contrary, BMP-4 mRNA levels were higher in the necrotic (0.75) than the normal (0.62), while BMP-7 mRNA levels were extremely low. At the protein level, BMP-2 continued to have a higher expression in the normal region (normal/necrotic: 0.67/0.64). BMP-4 and -6 were detected at higher levels in the necrotic site (normal/necrotic: 0.51/0.61 for BMP-4, 0.51/0.56 for BMP-6), while BMP-7 was not detectable. Different BMP levels between the normal and necrotic site, as well as discrepancies between the gene and protein expression pattern suggest a different regulation mechanism for BMPs between the two regions of FHs. The understanding of the expression pattern and the correlation of BMPs could lead to a more successful use in the prevention and treatment of AVN.

Pediatric terrible triad elbow fracture dislocations: report of 2 cases.

An elbow dislocation associated with radial head and coronoid process fractures, the terrible triad injury, has an unpredictable outcome in adults and is rare in children. We present 2 such injuries in children, 1 combined with an olecranon fracture, and both with good early clinical outcomes. However, in 1 of the 2 cases, avascular necrosis of the proximal radius was evident on radiographs.

The effect of clopidogrel treatment on osseointegration of titanium implants. A histomorphometric study in rabbits.

PURPOSE: Clopidogrel is a P2Y12 purinergic receptor inhibitor and a widely prescribed antiplatelet drug for the prevention of atherosclerotic events. Accumulated evidence suggests that purinergic receptors regulate important functions in bone healing and homeostasis. The purpose of the present study was to evaluate the effect of continuous perioperative clopidogrel treatment on osseointegration of titanium implants. MATERIALS AND METHODS: Thirty two white New Zealand rabbits were randomly assigned in two groups: a clopidogrel group and a control group. Rabbits of the clopidogrel group received daily 3mg/kg of clopidogrel and the control group received vehicle for one week prior to the surgical placement of a titanium implant in their medial femoral condyle; treatment was continued for another six weeks postoperative. At this time, postmortem histologic and histomorphometric evaluation of the implants was performed. RESULTS: Surgical procedures and postoperative period were uneventful and well tolerated by all animals without any surgical wound dehiscence, signs of infection or other complication. No implant failure was observed in any of the groups. Histomorphometric analysis showed that BIC (%) was 48.77% for the clopidogrel group and 34.65% for the control group with statistically significant difference between them (P < 0.001). Moreover, clopidogrel group had significantly greater bone tissue density (40.52 % vs 28.74 %, p<0.001) and mean trabecular thickness (284.7 µm vs 180.7 µm, p<0.001) in proximity to the implant surface, while mean trabecular number had no difference between groups (1.56 vs 1.60, p=0.961). CONCLUSIONS: The present study showed that continuous clopidogrel treatment does not negatively affect osseointegration, but rather promotes it in terms of BIC and bone density around the titanium implants. Further studies on the effect of the P2Y12 receptor and its antagonists on peri-implant bone homeostasis may provide useful information or applications for long-term success of dental implant therapy.

Polydactyly: Clinical and molecular manifestations.

Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly. According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation. There are several forms of polydactyly, including hand and foot extra digit manifestations. The deformity affects upper limbs with a higher frequency than the lower, and the left foot is more often involved than the right. The treatment is always surgical. Since the clinical presentation is highly diverse, the treatment combines single or multiple surgical operations, depending on the type of polydactyly. The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.

Novel sequence variations in the CER1 gene are strongly associated with low bone mineral density and risk of osteoporotic fracture in postmenopausal women.

Osteoporosis is a common skeletal disease characterized by a combination of low bone mass and increased fragility. In this case-control study, we investigated the possible association of two novel candidate genes, CER1 and TOB1, with bone mineral density (BMD) and fragility risk in 300 postmenopausal women of Hellenic origin. The entire CER1 and TOB1 gene sequences were amplified and resequenced to assess whether there is a correlation between these genes and BMD. We identified 26 variants in both genes. Statistical analysis did not reveal any correlation between TOB1 and osteoporosis. However, CER1 genetic analysis indicated that five polymorphisms, c.194C>G, c.507+506G>T, c.508-182A>G, c.531A>G, and c.*121T>C, were correlated, with a mean T score ≤-2.2. In particular, the greater number of vertebral fractures was found in patients with osteoporosis carrying the G allele of c.531A>G SNP (p = 0.015). When multiple logistic regression analysis was performed, only the c.507+506G>T polymorphism was independently associated with hip fractures or the presence of any fracture (OR = 6.95, p = 0.016, and OR = 5.33, p < 0.001, respectively). These results suggest that CER1 gene variations play a significant role in determining BMD and vertebral or hip fractures, which might be helpful in clinical practice to identify patients with increased fracture risk.