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Genetics of congenital anomalies of the hand

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World Journal of Orthopedics 2022年第11期13卷 949-954页

作者： Zisis Kyriazis Panagoula Kollia Ioanna Grivea Sotirios Sotiriou zoe h dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of Genetics and Biotechnology Faculty of BiologyNational and Kapodistrian University of AthensAthens 10679Greece Department of Paediatrics Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Laboratory of histology and Embryology Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece

Congenital anomalies of the hand are malformations occurring during the development of the human limb,and present as isolated disorders or as a part of a *** the last years,molecular analysis techniques have offered increasing knowledge about the molecular basis of hand *** in the signaling pathways during the development of the upper limb result in malformations of the upper *** present,several genes have been identified as responsible for hand anomalies and other have been recognized as suspect genes related to *** and new high throughput methods have been introduced for the identification of the gene *** the current editorial,we summarize concisely the current molecular status of isolated hand genetic disorders and the recent progress in molecular genetics,including the genes related to the *** progress improves the knowledge of these disorders and has implications on genetic counselling and prenatal diagnosis.

关键词： hand Gene Mutation Molecular Diagnosis Disorders

Polydactyly:Clinical and molecular manifestations

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World Journal of Orthopedics 2023年第1期14卷 13-22页

作者： Zisis Kyriazis Panagoula Kollia Ioanna Grivea Nikolaos Stefanou Sotirios Sotiriou zoe h dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of Genetics and Biotechnology Faculty of BiologyUniversity of AthensAthens 15701Greece Department of Paediatrics Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Laboratory of histology and Embryology Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece

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 *** is considered to be one of the most common inherited hand *** can be divided into two major groups:Non-syndromic polydactyly or syndromic *** to the anatomical location of the duplicated digits,polydactyly can be generally subdivided into pre-,post-axial,and mesoaxial ***-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 *** are several forms of polydactyly,including hand and foot extra digit *** deformity affects upper limbs with a higher frequency than the lower,and the left foot is more often involved than the *** treatment is always *** the clinical presentation is highly diverse,the treatment combines single or multiple surgical operations,depending on the type of *** research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the *** 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 nonsyndromic and syndromic disorders.

关键词： Polydactyly Gene Syndromic Non-syndromic Preaxial Postaxial

Update in combined musculoskeletal and vascular injuries of the extremities

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World Journal of Orthopedics 2022年第5期13卷 411-426页

作者： Nikolaos Stefanou Christina Arnaoutoglou Fotios Papageorgiou Miltiadis Matsagkas Sokratis E Varitimidis zoe h dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of Vascular Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of hand Upper Extremity and MicrosurgeryIASO ThessaliasLarissa 41500Greece

Combined musculoskeletal and vascular injuries of the extremities are conditions in which a multidisciplinary approach is a sine qua non to ensure life initially and limb viability *** injuries as part of musculoskeletal trauma are usually the result of the release of a high energy load in the wound site so that the prognosis is determined by the degree of soft-tissue damage,duration of limb ischemia,patient’s medical status and presence of associated *** management of these injuries is challenging and requires a specific algorithm of action,because they are usually characterized by increased morbidity,amputation rate,infection,neurological and functional deficits,and they could be life *** vascular injuries are rare and occur either isolated or in the context of major combined musculoskeletal trauma,the high index of suspicion,imaging control,and timely referral of the patient to organized trauma centers ensure the best functional outcome of the extremity in such challenging *** after a successful initial treatment of a combined trauma pattern,long-term follow-up is crucial to prevent and detect early possible *** purpose of this manuscript is to provide an update on diagnosis and treatment of combined musculoskeletal and vascular injuries of the extremities,from an orthopedic point of view.

关键词： Vascular injury Musculoskeletal trauma Combined injury Arterial injury Mangled extremity Limb salvage

Vascular endothelial growth factor for the treatment of femoral head osteonecrosis: An experimental study in canines

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World Journal of Orthopedics 2018年第9期9卷 120-129页

作者： zoe h dailiana Nikolaos Stefanou Lubna Khaldi Georgios Dimakopoulos James R Bowers Cristian Fink James R Urbaniak Department of Orthopaedic Surgery Faculty of Medicine University of Thessalia Department of Orthopaedic Surgery Duke University Medical Center Department of Pathology "Saint Savvas" AntiCancer Hospital Medical Statistics Epirus Science and Technology Park Campus of the University of Ioannina Emerge Ortho Independence Park Gelenkpunkt Sports and Joint Surgery Research Unit of Orthopedic Sports Medicine and Injury Prevention Institute for Sports Medicine Alpine Medicine and Health Tourism (ISAG)UMIT

AIM To evaluate the treatment of osteonecrosis of the femoral head(ONFh) with the use of vascular endothelial growth factor(VEGF).METhODS In 30 mature beagles(6 groups of 5 beagles) ONFh was induced cryosurgically and one of the following solutions was administered locally in the femoral head(Fh) in each group: Single injection of 500 μg VEGF(t-VEGFμ group); single injection of 500 ng VEGF(t-VEGFn group); continuous delivery of 500 μg VEGF through osmotic micropump(t-VEGFpump-μ group); continuous delivery of 500 ng VEGF through osmotic micropump(t-VEGFpump-n group); single injection of 0.9% sodium chloride(t-NS group), while one group that served as control group did not receive any local solution(No-t group). Fhs were retrieved 12 wk postoperatively, underwent decalcification and hematoxylin/eosin and toluidine blue staining. In two canines per group, one half of Fh was processed without decalcification and stained with modified Masson Trichrome. histological sections were observed by light microscopy and measured with a semi-automatized bone histomorphometry system and Bone Volume/Total Volume(BV/TV), Marrow Volume/Total Volume(MaV/TV), and Trabecular Thickness(TbT h) were assessed. Standard and robust tests(Welch, Brown Forsythe) of analysis of variance along with multiple comparisons, were carried out among the *** The untreated(No-t) group had signs of osteonecrosis, whereas the VEGF groups revealed reversal of the osteonecrosis. Statistical analysis of the decalcified specimens revealed a significantly better BV/TV ratio and a higher Tb Th between the VEGF treatment groups(except the t-VEGFn group) and the No-t group or the control t-NS group. Single dose 500 μg VEGF group had significantly better BV/TV ratio and higher Tb Th when compared to the No-t group(50.45 ± 6.18 vs 29.50 ± 12.27, P = 0.002 and 151.44 ± 19.07 vs 107.77 ± 35.15, P = 0.161 respectively) and the control t-NS group(50.45 ± 6.18 vs 30.9 ± 6.67, P = 0.004 and 151.44 ± 19.07 vs

关键词： Osteonecrosis Vascular endothelial growth factor Avascular necrosis Femoral head Osteogenesis Animal model

heterotopic ossification after the use of recombinant human bone morphogenetic protein-7

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World Journal of Orthopedics 2017年第1期8卷 36-41页

作者： Marianthi Papanagiotou zoe h dailiana Theophilos Karachalios Sokratis Varitimidis Michael hantes Georgios Dimakopoulos Marianna Vlychou Konstantinos N Malizos Department of Orthopaedic Surgery Facultyof MedicineUniversity of Thessalia Medical Statistics Epirus Science and Technology ParkUniversity of Ioannina Campus Department of Radiology and Medical Imaging Faculty of MedicineUniversity of Thessalia

AIM To present the incidence of heterotopic ossification after the use of recombinant human bone morphogenetic protein-7(rhB MP-7) for the treatment of *** Bone morphogenetic proteins(BMPs) promote bone formation by auto-induction. Recombinant human BMP-7 in combination with bone grafts was used in 84 patients for the treatment of long bone nonunions. All patients were evaluated radiographicaly for the development of heterotopic ossification during the standard assessment for the nonunion healing. In all patients(80.9%) with radiographic signs of heterotopic ossification, a CT scan was performed. Nonunion site palpation and ROM evaluation of the adjacent jointswere also carried out. Factors related to the patient(age, gender), the nonunion(location, size, chronicity, number of previous procedures, infection, surrounding tissues condition) and the surgical procedure(graft and fixation type, amount of rhB MP-7) were correlated with the development of heterotopic ossification and statistical analysis with Pearsons χ~2 test was *** Eighty point nine percent of the nonunions treated with rh BMP-7, healed with no need for further procedures. heterotopic bone formation occurred in 15 of 84 patients(17.8%) and it was apparent in the routine radiologi-cal evaluation of the nonunion site, in a mean time of 5.5 mo after the rh BMP-7 application(range 3-12). The heterotopic ossification was located at the femur in 8 cases, at the tibia in 6, and at the humerus in οne patient. In 4 patients a palpable mass was present and only in one patient, with a para-articular knee nonunion treated with rhB MP-7, the size of heterotopic ossification affected the knee range of motion. All the patients with heterotopic ossification were male. Statistical analysis proved that patient's gender was the only important factor for the development of heterotopic ossification(P = 0.007). CONCLUSION heterotopic ossification after the use of rh BMP-7 in nonunions was common b

关键词： Nonunion Bone morphogenetic protein Recombinant human bone morphogenetic protein-7 heterotopic ossification Long bone Bone graft Osteoinduction

Factors predisposing to thrombosis after major joint arthroplasty

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World Journal of Orthopedics 2020年第9期11卷 400-410页

作者： zoe h dailiana Nikolaos Stefanou Sokratis Varitimids Nikolaos Rigopoulos Apostolos Dimitroulias TheofilosKarachalios Konstantinos N Malizos Despoina Kyriakou Panagoula Kollia Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Laboratory of haematology-Transfusion Medicine Faculty of MedicineSchool of Health SciencesUniversity of ThessalyLarissa 41500Greece Department of human Genetics Faculty of BiologyNational and Kapodistrian University of AthensAthens 11635Greece

BACKGROUND Total joint arthroplasty is one of the most common options for end stage osteoarthritis of major ***,we must take into account that thrombosis after hip/knee arthroplasty may be related to mutations in genes encoding for blood coagulation factors and immune reactions to anticoagulants[heparininduced thrombocytopenia(hIT)/thrombosis].Identifying and characterizing genetic risk should help to develop diagnostic strategies or modify anticoagulant options in the search for etiological mechanisms that cause thrombophilia following major orthopedic *** To evaluate the impact of patients’coagulation profiles and to study specific pharmacologic factors in the development of post-arthroplasty *** In 212(51 male and 161 female)patients that underwent primary total hip arthroplasty(100)or total knee arthroplasty(112)due to osteoarthritis during a period of 1 year,platelet counts and anti-platelet factor 4(PF4)/heparin antibodies were evaluated pre/postoperatively,and antithrombin III,methylenetetrahydrofolate reductase,factor V and prothrombin gene mutations were evaluated *** a minimum follow-up of 3 years,196 patients receiving either low-molecular-weight heparins(173)or fondaparinux(23)were monitored for the development of thrombocytopenia,anti-PF4/heparin antibodies,hIT,and *** Of 196 patients,32 developed thrombocytopenia(nonsignificant correlation between anticoagulant type and thrombocytopenia,P=0134.)and 18 developed anti-PF4/heparin antibodies(12/173 for low-molecular-weight heparins and 6/23 for fondaparinux;significant correlation between anticoagulant type and appearance of antibodies,P=0.005).Odds of antibody emergence:8.2%greater in patients receiving fondaparinux than low-molecular-weight *** mutations in factor II or V(two heterozygotes for both factor V and II)were identified in 15 of 196 *** low protein C and/or S levels were found in 3 of 196(1.5%)patients,while

关键词： Arthroplasty Thrombosis heparin-induced thrombocytopenia Coagulation factors Low-molecular-weight heparin Fondaparinux

Medico-legal risks associated to hand and wrist trauma

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World Journal of Critical Care Medicine 2022年第1期11卷 40-47页

作者： Dionysia Vasdeki Sokratis E Varitimidis Charalambos Chryssanthakis Nikolaos Stefanou zoe h dailiana Department of Orthopaedic Surgery Faculty of MedicineUniversity of ThessalyLarissa 41500Greece Department of Orthopaedics University of ThessaliaLarissa 41110Greece Department of Administrative Science and Public Administration National and Kapodistrian University of AthensAthens 10678Greece Department of hand Upper Extremity and MicrosurgeryIaso ThessaliasNikaiaLarissa 41500Greece

BACKGROUND Acute hand and wrist injuries are common and may lead to long-term disability if not managed *** for negligence have been increasing in medical practice over the past few decades,with hand and wrist injuries and their treatment representing a significant percentage of orthopedic surgery *** is no available literature regarding medical malpractice claims in hand and wrist injuries and surgery in *** To identify claims related to hand and wrist trauma and surgery and to define the reasons of successful *** We performed a retrospective study of all legal claims of negligence for hand and upper extremity surgery that went to a trial,attributed to all surgical specialties,in Greece for a 20-year *** was further analyzed to identify claims related to hand and wrist trauma and *** There were six malpractice claims related to hand and wrist trauma that ended in a trial.A missed diagnosis,which resulted in failure of initial management of the injury,was the main reason for a *** of the six cases resulted in complete or partial loss of a *** cases are still open,requiring an expert witness’s report,two cases were closed in favor of the defendant,and two cases were closed in favor of the plaintiff with a mean compensation of€2000(€1000-€3000).CONCLUSION Missed diagnosis was the main reason for a malpractice *** understanding of factors leading to successful claims will help surgeons improve their practice to minimize legal implications and litigation.

关键词： hand trauma Wrist trauma Litigation Claim Negligence

Upper extremity vascular injuries:Etiology,management and outcome

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World Journal of Critical Care Medicine 2024年第2期13卷 159-167页

作者： Nikolaos Stefanou Theodoros Mylonas Fragkiskos A Angelis Christina Arnaoutoglou Sokratis E Varitimidis zoe h dailiana Department of Orthopaedic Surgery Faculty of MedicineSchool of Health SciencesUniversity of ThessalyUniversity Hospital of LarissaLarissa 41500Greece Department of hand Upper Extremity and MicrosurgeryIASO ThessaliasLarissa 41500Greece

BACKGROUND Vascular injuries of the upper extremities are considered relatively rare injuries affecting mostly the young *** often are complex injuries accompanied by other musculoskeletal trauma or trauma in other anatomic *** management is challenging since they can lead to disabilities with major socioeconomic *** To analyze data about the mechanism of injury,the management algorithm and functional outcomes of vascular injuries of the upper *** 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 *** patients’age was 33.7 years and the mean follow up time was 7.4 *** 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 *** A penetrating trauma was the most common cause of *** 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 *** 93%of the cases there were other concomitant musculoskeletal injuries of the *** lacerations were the most common,followed by nerve *** postoperative functional scores(full Disabilities of the Arm,Shoulder,and hand and VAS)had very satisfactory *** Although vascular injuries of the upper extremity are rare,they may occur in the context of major combined musculoskeletal *** 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.

关键词： Upper extremity Vascular injuries Complex injuries Musculoskeletal trauma Mangled extremity

Effect of clopidogrel in bone healing-experimental study in rabbits

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World Journal of Orthopedics 2019年第12期10卷 434-445页

作者： Theodoros Lillis Alexander Veis Nikolaos Sakellaridis Anastasios Tsirlis zoe dailiana Department of Orthopaedic Surgery Faculty of MedicineUniversity of ThessalyBiopolisLarissa 41500Greece Department of Dentoalveolar Surgery Implantology and Oral RadiologyFaculty of DentistryAristotle University of ThessalonikiPanepistimioupoliThessaloniki 54124Greece Department of Clinical Pharmacology Faculty of MedicineUniversity of ThessalyBiopolisLarissa 41500Greece

BACKGROUND Clopidogrel is a widely prescribed drug for prevention of myocardial infarction and stroke in patients at *** inhibits thrombus formation via inhibition of the P2Y12 purinergic receptor on platelets,which is important in their activation by ***,the P2Y12 receptor has also been found to be expressed in both osteoblasts and *** evidence suggests that purinergic receptors regulate important functions of bone *** studies on the effect of clopidogrel on bone metabolism indicated potential harmful effects,but their results remain ***,clopidogrel treatment may affect bone healing,but it has not yet been *** To evaluate if continuous perioperative clopidogrel treatment has any negative effect on bone healing in the rabbit calvarial defect *** Sixteen male white New Zealand rabbits were randomly assigned in two groups:One group received daily 3 mg/kg of clopidogrel per os and the other group received the vehicle alone for a week prior to the surgical procedures;the treatments were continued for another 6 wk *** surgical procedures included generation of two circular calvarial defects 11 mm in diameter in every *** the 6-wk period of healing,postmortem radiographic and histomorphometric evaluation of the defects was *** Both the surgical procedures and the postoperative period were uneventful and well tolerated by all the animals,without any surgical wound dehiscence,signs of infection or other *** bone was formed either inwards from the defect margins or in the central portion of the defect as separated bony *** defect healing was still incomplete in both groups,the clopidogrel group had significantly improved radiographic healing ***,the histomorphometric analysis showed that bone regeneration(%)was 28.07±7.7 for the clopidogrel group and 19.47±4.9 for the control group,showing a statistically significant difference

关键词： Clopidogrel Bone healing Purinergic signaling Calvarial defect Rabbit