scholarly journals Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Murat Arıkan ◽  
Ahmet Yıldırım ◽  
Güray Togral ◽  
Alp Burak Ekmekçi

Nasu-Hakola disease, which is also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare and mortal human genetic disorder (Verloes et al., (1997) and Bianchin et al., (2004)). Nasu-Hakola is a progressive disease characterized by early onset cognitive dementia and bone cysts (both evident by the third decade). The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan (Montalbetti et al., (2004)). In the literature less than 200 cases are reported and only a few of them are about the surgical treatment for the extremity (Madry et al., (2007)). Most patients die by their fourth or fifth decade because of neurologic problems. Surgeons generally prefer conservative treatment modalities in the treatment of cystic lesions of the bone in this syndrome. In this case report, we presented a 42-year-old male with Nasu-Hakola disease having bilateral painful talar lipomembranous cystic lesions treated with curettage and iliac bone grafting. He is in the 3rd year of his followup after surgery and he has not any extremity complaints, but his neurological problems sustain. Our aim in this study is to show the beneficial aspect of surgical intervention in the cystic lesions of Nasu Hakola disease in the skeleton to obtain the patient a painless joint although surgery is rarely performed in this systemic and progressive disease.

2009 ◽  
Vol 46 (3) ◽  
pp. 262-267 ◽  
Author(s):  
Marion Devambez ◽  
Alexis Delattre ◽  
Pierre Fayoux

Objectives: To review diagnosis and treatment modalities in congenital nasal pyriform aperture stenosis in a newborn population. Study Design: A 6-year retrospective case series review. Mean follow-up of 21.8 months. Setting: University hospital, tertiary care center. Patients: Twenty-one consecutive patients treated for congenital nasal pyriform aperture stenosis. Diagnosis was suspected on physical examination and confirmed by computed tomography scan. Associated abnormalities were present in 15 patients. Surgical Treatment: Nineteen patients underwent surgical treatment focused on external bony margins of pyriform aperture and the osseous anterior edge of the inferior turbinate, drilling by a sublabial approach and associated with a partial turbinectomy in seven cases. A stent was placed for 7 to 10 days. A conservative treatment based on topical nasal decongestants and gastroesophageal reflux treatment was proposed for two patients. Results: Postoperative follow-up revealed septal ulceration in five cases with septal perforation in one case and development of synechiae in two cases. Follow-up revealed normal nasal breathing and pyriform aperture growth after surgery. Conclusion: Our experience confirmed the link described between congenital nasal pyriform aperture stenosis and holoprosencephaly, but associated extracraniofacial malformations suggest that congenital nasal pyriform aperture stenosis should be integrated in a systemic malformative syndrome or genetic disorder and lead us to propose an exhaustive dysmorphology assessment. Some infants may be treated by conservative management, and severely affected patients may undergo surgery by a sublabial approach.


FACE ◽  
2021 ◽  
pp. 273250162110220
Author(s):  
Uchenna P. Egbunah ◽  
Adegbayi A. Adekunle ◽  
Wasiu L. Adeyemo

Objectives: To answer the question of “how effective are non-surgical treatment modalities in the management of oral cancer, and can they serve as viable alternatives to surgical intervention?” Method: We conducted systematic searches for Randomized Controlled Trials and Controlled Clinical Trials in PubMed, Cochrane, Ovid Medline, and OpenGrey databases. The US National Institutes of Health Ongoing Trials Register and the World Health Organization International Clinical Trials Registry Platform were also searched for ongoing and past studies. Identified studies were retrieved and assessed for relevance. Outcome measures: The primary outcomes assessed in the trials included any combination of overall survival, disease-free survival, locoregional control, and recurrence. While secondary outcomes considered were complications of treatment, participants’ satisfaction, costs to participants and health services, and quality of life. Results: Only 5 studies met all inclusion criteria and were selected for qualitative analysis. Two studies comparing radiotherapy with surgery, 1 compared chemoradiotherapy with surgery, and 2 compared brachytherapy with surgery. Conclusion: Based on results from this review, surgery is the mainstay of treatment of non-HPV-associated oral cancer and should always be considered unless surgical intervention is contraindicated. Primary radiotherapy or concurrent chemoradiotherapy may be instituted as non-surgical alternatives when surgery is contraindicated on the condition that clinicians follow the NCCN guidelines.


2021 ◽  
Author(s):  
◽  
Ahmad Aghazadeh

This thesis is focused on (I) the outcome of reconstructive treatment of peri-implant defects and (II) risk factors for the development of peri-implantitis. Background An increasing number of individuals have dental implant-supported reconstructions. The long-time survival rate of dental implants is good, but complications do occur. Accumulation of bacteria on oral implants and the development of a pathogenic biofilm at the mucosal margin will result in inflammatory responses diagnosed as peri-implant mucositis(PiM). Furthermore, PiM may progress to peri-implantitis (Pi) involving the implant-supporting bone and potentially result in a severe inflammatory process resulting in alveolar bone destruction and consequently implantloss. Currently, Pi is a common clinical complication following implant therapy.The prevalence of peri-implantitis has been reported to be around 20 %. Susceptibility to infections and a history of periodontitis are considered as important risk indicators for peri-implantitis. It seems logical that a past history of periodontitis is linked to an increased risk of peri-implantitis. It is possible that other patient-associated factors such as a smoking habit, and presence of general diseases may also be linked to a higher risk for developing peri-implantitis.Treatment of peri-implantitis is difficult. Non-surgical treatment modalities may not be sufficient to resolve the inflammatory process to obtain healthy conditions.Surgical treatment of peri-implantitis has commonly been employed in clinical practice to obtain access to the implant surface thereby increasing the possibility to effectively decontaminate the implant surfaces.The effectiveness and long-term outcomes of reconstructive surgical treatments of peri-implantitis has been debated. The scientific evidence suggests that regular supportive care is an essential component in order to maintain and secure long-term results following treatment of peri-implantitis. Aims 1. To assess the short-term efficacy of reconstructive surgical treatmentof peri-implantitis (Study I). 2. To analyse risk factors related to the occurrence of peri-implantitis(Study II). 3. To assess the importance of defect configuration on the healing response after reconstructive surgical therapy of peri-implantitis (Study III). 4. To assess the long-term efficacy of reconstructive surgical treatmentof peri-implantitis (Study IV). MethodsFour studies were designed to fulfil the aims: - A single-blinded prospective randomised controlled longitudinal human clinical trial evaluating the clinical and radiographic results of reconstructive surgical treatment of peri-implantitis defects usingeither AB or BDX. - A retrospective analysis of individuals with either peri-implantitis, or presenting with either peri-implant health, or peri-implant mucositis assessing the likelihood that peri-implantitis was associated with a history of systemic disease, a history of periodontitis, and smoking. - A prospective study evaluating if the alveolar bone defect configuration at dental implants diagnosed with peri-implantitisis related to clinical parameters at the time of surgical intervention and if the short- and long-term outcome of surgical intervention of peri-implantitis is dependent on defect configuration at the time of treatment. - A prospective 5-year follow-up of patients treated either with AB or BDX. Results - The success for both surgical reconstructive procedures was limited. Nevertheless, bovine xenograft provided evidence of more radiographic bone fill than AB. Improvements in PD, BOP, and SUP were observed for both treatment modalities -In relation to a diagnosis of peri-implantitis, a high likelihood of comorbidity was expressed in the presence of a history of periodontitis and a medical history of cardiovascular disease - The buccal-lingual width of the alveolar bone crest was explanatory to defect configuration - 4-wall defects and deeper defects demonstrated more radiographic evidence of defect fill - Reconstructive surgical treatment of peri-implant defects may result in successful clinical outcomes, that can be maintained over at least five years - The use of BDX is more predictable than use of harvested bone from the patient (AB) Conclusions The study results suggest that a bovine xenograft provides better radiographic evidence of defect fill than the use of autogenous bone harvested from cortical autologous bone grafts.Treatment with bone grafts to obtain radiographic evidence of defect fill is more predictable at 3- and 4-wall defects than at peri-implantitis bone defects with fewer bone walls.In relation to a diagnosis of peri-implantitis, a high likelihood of comorbidity was found for a history of periodontitis and a history of cardiovascular disease.


Hand ◽  
2018 ◽  
Vol 14 (6) ◽  
pp. 751-759 ◽  
Author(s):  
Tyler Safran ◽  
Jessica Hazan ◽  
Becher Al-Halabi ◽  
Hassan Al-Naeem ◽  
Sabrina Cugno

Background: Cystic lesions of the carpal bones are rare entities that are infrequently reported in the literature. Scaphoid intraosseous cystic lesions represent a rare subset of carpal bone cysts. This review aims to summarize the available evidence on the evaluation and treatment of scaphoid cystic lesions to help guide clinical management. Methods: Systematic electronic searches were performed using PubMed, Ovid, and Embase databases. Studies included were graded for their risk of bias. Pooled descriptive statistics were performed on incidence, etiology, physical exam findings, treatment, and follow-up. Results: A total of 38 patients representing 41 scaphoid cystic lesions were pooled from 27 articles. Patients presented with wrist pain without fracture (n = 27), pathological fracture (n = 9), swelling only (n = 1), or were asymptomatic (n = 4). Cystic lesions of the scaphoid were initially revealed on imaging with radiographs alone (n = 22), radiographs in combination with computed tomography (CT) (n = 10) or magnetic resonance imaging (n = 6), CT alone (n = 1), or using all 3 modalities (n = 2). Intraosseous ganglia were identified most frequently (n = 31), followed by “bone cyst-like pathological change” (n = 3), unicameral bone cysts (n = 2), aneurysmal bone cysts (n = 2), primary hydatid cysts (n = 2), and cystic like changes post fall (n = 1). Treatment modalities included curettage and bone graft (n = 39) or below-elbow cast (n = 2). On follow-up (average of 21.3 months; n = 40), all patients improved clinically after treatment and were found to have full wrist range of motion without pain (n = 31), slightly reduced grip strength (n = 3), limited range of motion (n = 2), or persistent mild discomfort (n = 2). Conclusions: Scaphoid cystic lesions are most commonly intraosseous ganglia, but can include other etiologies as well. The main presenting symptom is radial wrist pain that usually resolves after treatment. The presence of intracarpal cystic lesions should be considered in the differential diagnosis of wrist pain.


VASA ◽  
2009 ◽  
Vol 38 (4) ◽  
pp. 378-381
Author(s):  
Gormus ◽  
Tanyeli ◽  
Senaran ◽  
Duman ◽  
Solak Görmüs ◽  
...  

A 4 year-old boy was admitted to our clinic with symptoms of pain and ecchymosis in his right leg and foot after injection of benzathine penicilline. There was a localized gangrenous area at the femoral injection site. Doppler ultrasonography showed no arterial flow in the femoral artery and clear evidence of acute thrombosis of the superficial femoral and popliteal veins. Femoral arterial and venous thrombectomy and fasciotomy were performed immediately. After surgery the boy was treated by Iloprost infusion and enoxaparine. One week later necrotic changes had regressed, fasciotomies were closed and only the distal phalanx of the third toe needed amputation. Early surgical intervention and standard management combined with Iloprost infusion may help in healing the lesions by increasing extremity perfusion and may prevent extremity loss.


1997 ◽  
Vol 29 (6) ◽  
pp. 477-482 ◽  
Author(s):  
PATRICIA M. HOGAN ◽  
C. W. McILWRAITH ◽  
C. M. HONNAS ◽  
J. P. WATKINS ◽  
L. R. BRAMLAGE

2021 ◽  
Author(s):  
Nikolaos Laliotis

Neurofibromatosis is often related with severe orthopaedic disorders in children. Bone lesions are rare but pose severe difficulties in management. It affects the spine and long bones. Lesions are associated either from enlargement of neurofibromas that affect the normal growth or from primary neurofibromatosis of long bones. Dystrophic scoliosis appears with short curves, with kyphosis and rotation of the apical vertebrae. Usually affect the thoracic spine, with penciling of the ribs. Surgical treatment is challenging in cases of rapid progression. Scoliosis may appear with curvatures similar to those in idiopathic scoliosis, without dysplastic changes of the vertebrae. Anterior bowing of the tibia is manifestation of NF and is distinguished from the benign posterolateral bowing. Evaluation of the medullary canal and presence of cystic lesions in the tibia is essential. Progression to pseudoarthrosis or pathologic fracture is common. Surgical management of tibial pseudoarthrosis remains a difficult procedure. Pseudoarthrosis may appear in fibula, radius or ulna but are extremely rare. Irregular eccentric bone cysts in long bones that are commonly diagnosed after a pathologic fracture, must be differentiated for NF. Malignant transformation of neurofibromas must be considered when there is rapid progression of the lesion.


2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Michael Sosin ◽  
Wuya Lumeh ◽  
Matthew Cooper

Vascular torsion in a renal allograft after placement in the retroperitoneum is rare and has only been reported twice in the literature. It is an extrinsically mediated process that occurs at the vascular pedicle resulting in graft compromise and potential loss. Rapid diagnosis and immediate surgical intervention may salvage allograft function. Herein, we present a unique case of a 42-year-old male that developed renal allograft torsion following a second kidney transplant placed in the retroperitoneum. Immediate detorsion did not resolve allograft dysfunction, and a biopsy revealed acute cellular mediated rejection. After antithymocyte globulin treatment, allograft function was salvaged. A review of the current literature shows that the incidence, morbidity, and long term allograft function of intraperitoneal and extraperitoneal torsion are different. As such, torsion of the retroperitoneal kidney demonstrates encouraging allograft salvage rates. Only the third case reported to date, this serves as a contribution to the growing body of literature in retroperitoneal renal torsion and reviews the risks, medication considerations, diagnostic tests, and treatment modalities in a unique disease process.


1998 ◽  
Vol 11 (01) ◽  
pp. 08-18 ◽  
Author(s):  
C. W. McIlwraith ◽  
J. A. Auer ◽  
Brigitte von Rechenberg

SummaryCases of cystic bone lesions in horses and humans were reviewed in the literature. These lesions are radiolucent areas of bone, recognized as subchondral cystic lesions in the horse (SCL), intra-osseous ganglia (IOG), subchondral bone cysts secondary to osteoarthrosis (OAC), and unicameral bone cysts (UCB) in humans. Their morphology is quite similar, consisting of lesions with a distinct cyst wall, and a cavity filled with fibrous tissue and yellowish mucoid fluid. The lesions are surrounded by sclerotic bone and can be easily diagnosed radiographically. SCL, IOG and OAC occur in the subchondral bone close to the adjacent joint, whereas UCB occur in the metaphysis of long bones. Their aetiology and pathogenesis is still unknown, although primary damage to the subchondral bone, cartilage or local blood supply and growth disturbances are discussed. In this review 703 lesions of SCL in horses, 289 lesions of IOG and 1460 lesions of UCB in humans were compared in their anatomical location and clinical signs. SCL and OAC resembled each other with respect to anatomical location. A correlation of affected bones could not be found for all four groups. Clinical presentation concerning age was most similar for SCL and UCB with both lesions mainly occurring in young individuals. Gender predominance of males was present in SCL, IOG and UCB. Clinical diagnosis was either incidental, or connected with intermittent pain in all lesions except for OAC. Additionally, the lesions were also found in conjunction with degenerative joint disease (SCL, OAC) or pathological fractures (UCB). Cystic bone lesions were either treated conservatively, surgically with curettage alone, curettage in combination with grafting procedures, or intra-lesional application of corticosteroids. SCL and UCB were similar in their biological behaviour concerning their slow response to the therapy and relatively high recurrence rate. None of the cystic bone lesions were comparable, and a common aetiology and pathogenesis could not be found.In a literature review cases of cystic bone lesions in horses and humans were compared with the goal to find a common aetiology and pathogenesis. Cystic bone lesions occur in horses as subchondral cystic lesions (SCL), and in humans as either intra-osseous ganglia (IOG), subchondral cystic lesions secondary to osteoarthrosis (OAC) or unicameral bone cysts (UCB). IOG and OAC compare with SCL mainly in the anatomical location. IOG and SCL resemble each other in size, clinical signs and histology, whereas UCB and SCL show a similar biological behaviour regarding their therapeutic response and recurrence rate. None of the cystic bone lesions in humans were comparable to the SCL in horses in all aspects. A common aetiology and pathogenesis could not be established.


2020 ◽  
Vol 98 (3) ◽  
pp. 178-184
Author(s):  
T. V. Chernyakova ◽  
A. Yu. Brezhnev ◽  
I. R. Gazizova ◽  
A. V. Kuroyedov ◽  
A. V. Seleznev

In the review we have integrated all up-to-date knowledge concerning clinical course and treatment of glaucoma among pregnant women to help specialists choose a proper policy of treatment for such a complicated group of patients. Glaucoma is a chronic progressive disease. It rarely occurs among childbearing aged women. Nevertheless the probability to manage pregnant patients having glaucoma has been recently increasing. The situation is complicated by the fact that there are no recommendations on how to treat glaucoma among pregnant women. As we know, eye pressure is progressively going down from the first to the third trimester, so we often have to correct hypotensive therapy. Besides, it is necessary to take into account the effect of applied medicines on mother health and evaluate possible teratogenic complications for a fetus. The only medicine against glaucoma which belongs to category B according to FDA classification is brimonidine. Medicines of the other groups should be prescribed with care. Laser treatment or surgery may also be a relevant decision when monitoring patients who are planning pregnancy or just bearing a child. Such treatment should be also accompanied by medicines.


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