Cleidocranial dysostosis: a report on two familial cases

Cleidocranial dysostosis is a rare genetic syndrome with an autosomal dominant inheritance pattern. The most common manifestations include clavicular aplasia or hypoplasia, open fontanelles and abnormal dentition. The present report describes two familial cases whose late diagnosis was made by means of clinical and radiographic findings. The treatment was radical, with complete surgical teeth extraction and making of total dental prosthesis.

Maladie des griffes du chat et autres bartonelloses [Cat scratch disease and other human infections caused by Bartonella species].

The different Bartonella species can cause various human infections such as cat scratch disease, chronic bacteremia (homeless patient with nonspecific symptom), endocarditis, bacillary angiomatosis, peliosis, and Carrion's disease. Diagnostic approaches include serology, culture and molecular approaches. PCR is especially useful on lymph nodes biopsies from patients with cat-scratch disease and on valvular samples taken from culture-negative endocarditis. Serology exhibits a very high sensitivity in the latter situation. The treatment should be chosen according to the clinical presentation.

Rotational assessment of distal femur and its relevance in total knee arthroplasty: analysis by magnetic resonance imaging

AbstractObjective:To define the distal femur rotation pattern in a Brazilian population, correlating such pattern with the one suggested by the arthroplasty instruments, and analyzing the variability of each anatomic parameter.Materials and Methods:A series of 101 magnetic resonance imaging studies were evaluated in the period between April and June 2012. The epidemiological data collection was performed with the aid of the institution's computed imaging system, and the sample included 52 male and 49 female patients. The measurements were made in the axial plane, with subsequent correlation and triangulation with the other plans. The posterior condylar line was used as a reference for angle measurements. Subsequently, the anatomical and surgical transepicondylar axes and the anteroposterior trochlear line were specified. The angles between the reference line and the studied lines were calculated with the aid of the institution's software.Results:The mean angle between the anatomical transepicondylar axis and the posterior condylar line was found to be 6.89°, ranging from 0.25° to 12°. For the surgical transepicondylar axis, the mean value was 2.89°, ranging from –2.23° (internal rotation) to 7.86°, and for the axis perpendicular to the anteroposterior trochlear line, the mean value was 4.77°, ranging from –2.09° to 12.2°.Conclusion:The anatomical transepicondylar angle showed mean values corresponding to the measurement observed in the Caucasian population. The utilized instruments are appropriate, but no anatomical parameter proved to be steady enough to be used in isolation.

Mycoplasma hominis mediastinitis after acute aortic dissection repair.

We report a case of ascending aortic graft infection by an atypical bacteria, Mycoplasma hominis, with mediastinitis, a dreaded complication after cardiac surgery. A 55-year-old patient underwent ascending aorta replacement for acute type A dissection. He developed sternal instability and purulent discharge, requiring sternal wire removal and debridement. Cultures were initially sterile, but showed M. hominis infection after a significant delay and in specific culture media. The patient was treated with doxycycline and moxifloxacine. Cultures became negative and the sternum was closed on the 28th postoperative day after the first debridement. Recovery was favorable, with no signs of infection. Antibiotics were continued for one year. The patient is still asymptomatic 16 months after antibiotic interruption. Atypical organisms should be considered in the differential diagnosis of acute mediastinitis of unknown etiology after routine microbiological investigations.

Presence of Chlamydiales DNA in samples negative by broad-range bacterial 16S rRNA PCRs: new insights into chlamydial pathogenic role.

Since routine eubacterial 16S rRNA PCR does not amplify members of the Chlamydiales order, we tested all samples received in our laboratory during a 10 months period using a pan-Chlamydiales real-time PCR. 3 of 107 samples (2.8%) revealed to be positive, suggesting a role of some Chlamydiales in the pathogenesis of chronic bronchial stenosis or bronchial stenosis superinfection and as agents of orthopaedic prosthesis infections.

Acute Infection in Total Knee Arthroplasty: Diagnosis and Treatment

Infection is one of the most serious complications after total knee arthroplasty (TKA). The current incidence of prosthetic knee infection is 1-3%, depending on the series(.) For treatment and control to be more cost effective, multidisciplinary groups made up of professionals from different specialities who can work together to eradicate these kinds of infections need to be assembled. About the microbiology, Staphylococcus aureus and coagulase-negative staphylococcus were among the most frequent microorganisms involved (74%). Anamnesis and clinical examination are of primary importance in order to determine whether the problem may point to a possible acute septic complication. The first diagnosis may then be supported by increased CRP and ESR levels. The surgical treatment for a chronic prosthetic knee infection has been perfectly defined and standardized, and consists in a two-stage implant revision process. In contrast, the treatment for acute prosthetic knee infection is currently under debate. Considering the different surgical techniques that already exist, surgical debridement with conservation of the prosthesis and polythene revision appears to be an attractive option for both surgeon and patient, as it is less aggressive than the two-stage revision process and has lower initial costs. The different results obtained from this technique, along with prognosis factors and conclusions to keep in mind when it is indicated for an acute prosthetic infection, whether post-operative or haematogenous, will be analysed by the authors.

Cardiac disease in systemic lupus erythematosus: prospective study of 70 patients.

A prospective two dimensional and Doppler echocardiographic study of 70 consecutive patients with systemic lupus erythematosus (SLE) and 40 controls was carried out. Forty patients (57%) were found to have echocardiographic disturbance. Valvular abnormalities were detected in 31 patients (44%) and in only two controls (5%). Mitral valve abnormalities were the most common findings (23/70 (33%)) with mild or moderate regurgitation the most frequent lesion (16% and 9% respectively). Three patients (4%) had a morphological echocardiographic pattern suggestive of non-infective verrucous vegetations affecting the mitral valve. No patient had haemodynamically significant clinical valve disease. Pericardial effusion was identified in 19 patients (27%), of whom 14 had mild and clinically silent disease. Myocardial abnormalities were found in 14 patients (20%), but clinical features of myocardial dysfunction were present in only one. Patients with antiphospholipid antibodies were found to have an increased prevalence of endocardial lesions, mainly valvular regurgitation. It is concluded that the inclusion of echocardiography in a study protocol of patients with SLE can identify an important subset of patients with cardiac abnormalities, many of which are clinically silent. In addition, the association of antiphospholipid antibodies with endocardial lesions suggests that these antibodies may have a prominent role in the pathogenetic mechanisms of heart valve disease in SLE.

Cardiac disease in systemic lupus erythematosus. Prospective study of 70 patients.

A prospective two dimensional and Doppler echocardiographic study of 70 consecutive patients with systemic lupus erythematosus (SLE) and 40 controls was carried out. Forty patients (57%) were found to have echocardiographic disturbance. Valvular abnormalities were detected in 31 patients (44%) and in only two controls (5%). Mitral valve abnormalities were the most common findings (23/70 (33%)) with mild or moderate regurgitation the most frequent lesion (16% and 9% respectively). Three patients (4%) had a morphological echocardiographic pattern suggestive of non-infective verrucous vegetations affecting the mitral valve. No patient had haemodynamically significant clinical valve disease. Pericardial effusion was identified in 19 patients (27%), of whom 14 had mild and clinically silent disease. Myocardial abnormalities were found in 14 patients (20%), but clinical features of myocardial dysfunction were present in only one. Patients with antiphospholipid antibodies were found to have an increased prevalence of endocardial lesions, mainly valvular regurgitation. It is concluded that the inclusion of echocardiography in a study protocol of patients with SLE can identify an important subset of patients with cardiac abnormalities, many of which are clinically silent. In addition, the association of antiphospholipid antibodies with endocardial lesions suggests that these antibodies may have a prominent role in the pathogenetic mechanisms of heart valve disease in SLE.

Survival and Quality of Life among Patients with Severe Lower Extremity Peripheral Arterial Disease

Lower extremity peripheral arterial disease (PAD) is associated with decreased functional status, diminished quality of life (QoL), amputation, myocardial infarction, stroke, and death. Nevertheless, public awareness of PAD as a morbid and mortal disease is low. The aim of this study was to assess the incidence of major lower extremity amputation due to PAD, the extent of reamputations, and survival after major lower extremity amputation (LEA) in a population based PAD patient cohort. Furthermore, the aim was to assess the functional capacity in patients with LEA, and the QoL after lower extremity revascularization and major amputation. All 210 amputees due to PAD in 1998–2002 and all 519 revascularized patients in 1998–2003 were explored. 59 amputees alive in 2004 were interviewed using a structured questionnaire of QoL. Two of each amputee age-, gender- and domicile-matched controls filled in and returned postal self-administered QoL questionnaire as well as 231 revascularized PAD patients (the amount of these patients who engaged themselves to the study), and one control person for each patient completed postal self-administered QoL questionnaire. The incidence rate of major LEA was 24.1/100 000 person-years and it was considerably high during the years studied. The one-month mortality rate was 21%, 52% at one-year, and the overall mortality rate was 80%. When comparing the one-year mortality risk of amputees, LEAs were associated with a 7.4-fold annual mortality risk compared with the reference population in Turku. Twenty-two patients (10%) had ipsilateral transversions from BK to AK amputation. Fifty patients (24%) ended up with a contralateral major LEA within two to four amputation operations. Three bilateral amputations were performed at the first major LEA operation. Of the 51 survivors returning home after their first major LEA, 36 (71%) received a prosthesis; (16/36, 44%) and were able to walk both in- and outdoors. Of the 68 patients who were discharged to institutional care, three (4%) had a prosthesis one year after LEA. Both amputees and revascularized patients had poor physical functioning and significantly more depressive symptoms than their controls. Depressive symptoms were more common in the institutionalized amputees than the home-dwelling amputees. The surviving amputees and their controls had similar life satisfaction. The amputees felt themselves satisfied and contented, whether or not they lived in long-term care or at home. PAD patients who had undergone revascularizations had poorer QoL than their controls. The revascularized patients’ responses on their perceived physical functioning gave an impression that these patients are in a declining life cycle and that revascularizations, even when successful, may not be sufficient to improve the overall function. It is possible that addressing rehabilitation issues earlier in the care may produce a more positive functional outcome. Depressive symptoms should be recognized and thoroughly considered at the same time the patients are recovering from their revascularization operation. Also primary care should develop proper follow-up, and community organizations should have exercise groups for those who are able to return home, since they very often live alone. In rehabilitation programs we should consider not only physical disability assessment but also QoL.

Histopatologia da seromiotomia dupla e sutura seromuscular no cólon descendente de ratos

Realizamos um estudo experimental em ratos com o objetivo de retardar o trânsito intestinal no cólon e verificar as alterações macroscópicas nas fezes e as histopatológicas ocorridas no intestino grosso. Foram operados 15 ratos e 15 ratas num total de trinta, divididos em três grupos denominados 30, 60 e 90 dias, conforme o tempo proposto para relaparotomia. Todos os ratos foram submetidos a duas seromiotomias extramucosas, no cólon descendente, com incisões circunferenciais (360°). Elas se localizavam, uma a 1 cm e a outra a 2 cm acima da reflexão peritoneal. Após as seromiotomias, fez-se a sutura seromuscular circundando todo o perímetro do cólon. Analisaram-se os aspectos clínicos e histopatológicos. Concluiu-se que há formação de um anel fibroso, com elevação da mucosa em direção à luz, do tipo valvular e descontinuidade da musculatura longitudinal e transversal.

Trauma abdominal penetrante consecutivo à corrente elétrica industrial

The authors present a case report of a victim of high power electric shock. The main electric lesion was a penetrating abdominal wound with loss of substance of the abdominal wall and an electric lesion of the hepatic segment and of the gallbladder. The surgical treatment included hepatic segmentectomy, cholecystectomy, repair of the abdominal wall with Marlex prosthesis and skin graft, besides the debridment of the lesions of extremities. The postoperative evolution was satisfactory and the follow-up for 6 months didn't show any sequelae.

Alterações morfométricas da musculatura dos músculos longitudinal e circular de ratos submetidos à criação de piloros no intestino delgado

OBJETIVO: Realizar um estudo morfométrico comparativo da musculatura longitudinal e circular do intestino delgado de ratos submetidos à construção cirúrgica de um e de dois piloros no intestino delgado utilizando-se da técnica de criação de piloros proposta por Rena et al. MÉTODO: Foram utilizados 52 ratos Wistar machos divididos em três grupos. O Grupo A, destacado como controle, composto de 10 animas, cada um forneceu 20mm de segmento de intestino para o estudo. Os animais do Grupo B, composto de 32 animais, foram submetidos à construção de dois piloros, um a 100mm e outro a 150mm da válvula ileocecal e os animais do grupo C, composto de 10 animais, foram submetidos à construção de um piloro a 100mm da mesma. A eutanásia ocorreu no décimo dia. A morfometria das camadas musculares longitudinal e circular acima e abaixo dos piloros foi estudada com utilização do microscópico modelo "Axiostar plus" conectado à câmera "Axioncam Version 5.05.10" com objetiva X5 / 0,12 no o programa "AxioVision 3.1.2.1". RESULTADOS: As alças apresentaram aumento da espessura da camada muscular acima e abaixo do ponto da operação. O estudo morfométrico comparativo das camadas musculares longitudinal e circular mostrou aumento significativo em comparação ao controle, não demonstrando significância entre os grupos B e C. CONCLUSÃO: Os resultados deste estudo revelaram importante aumento de espessura das camadas musculares, porém, menos acentuados que aqueles descritos na literatura quando foram realizados em animais submetidos à estenose fixa. Esses dados indicam que a construção operatória de piloros pela técnica utilizada promove alterações musculares de menor monta, possivelmente, pela função valvular do piloro.

O uso da prótese na correção das hérnias da parede abdominal é um avanço, mas o seu uso indiscriminado, um abuso

The objective is to alert the surgeon about the indiscriminate use of synthetic prosthesis in the correction of inguinal and incisional hernias. The authors provide a brief history of surgery on hernias and a review of the literature, showing the importance of classifying inguinal hernias to fit the type of surgical correction with the defect found, abstaining from treating all hernias, with the same type of surgical procedure. In our opinion, small indirect inguinal hernias (type 1 and 2 of Gilbert) and hernias in women must not, in general, be treated with prostheses. The synthetic material should be reserved for direct and large indirect hernias. Even so, this attitude, besides determining a higher cost for the procedure, can lead to important complications such as infection, rejection, fistula formation, chronic pain, alterations in spermatogenesis and the possibility of carcinogenesis, according to more recent reports. The physiology and anatomy of the abdominal wall should be considered when dealing with incisional hernia corrections, where the surgeon can choose among many techniques to correct those defects, and in selected cases, utilize synthetic material. We conclude that although the use of biomaterials has constituted a great advance in surgery for abdominal wall hernia corrections because they decrease recurrences, and permit treatment of large abdominal hernias, the indiscriminate prosthesis usage is an abuse, and it can determine many serious complications, certainly avoidable with a well indicated non mesh technique .

Endovascular treatment of popliteal artery aneurysm. Early and midterm results

OBJECTIVE: to evaluate the efficacy of endovascular repair of popliteal artery aneurysms on maintaining patency of the stent in the short and medium term. METHODS: this was a retrospective, descriptive and analytical study, conducted at the Integrated Vascular Surgery Service at the Hospital da Beneficência Portuguesa de São Paulo. We followed-up 15 patients with popliteal aneurysm, totaling 18 limbs, treated with stent from May 2008 to December 2012. RESULTS: the mean follow-up was 14.8 months. During this period, 61.1% of the stents were patent. The average aneurysm diameter was 2.5cm, ranging from 1.1 to 4.5cm. The average length was 5cm, ranging from 1.5 to 10 cm. In eight cases (47.1%), the lesion crossed the joint line, and in four of these occlusion of the prosthesis occurred. In 66.7% of cases, treatment was elective and only 33.3% were symptomatic patients treated on an emergency basis. The stents used were Viabahn (Gore) in 12 cases (66.7%), Fluency (Bard) in three cases (16.7%), Multilayer (Cardiatis) in two cases (11.1%) and Hemobahn (Gore) in one case (5.6%). In three cases, there was early occlusion (16.6%). During follow-up, 88.2% of patients maintained antiplatelet therapy. There was no leakage at ultrasound (endoleak). No fracture was observed in the stents. CONCLUSION: the results of this study are similar to other published series. Probably, with the development of new devices that support the mechanical characteristics found on the thighs, there will be improved performance and prognosis of endovascular restoration.

Profile of hip arthroplasty patients in a teaching hospital

OBJECTIVE: to characterize the epidemiological profile of patients undergoing hip replacement, primary or revisional. METHODS: we conducted a retrospective, descriptive study, including hip arthroplasties performed from January 2009 to June 2012 in a Belo Horizonte teaching hospital, Minas Gerais State - MG, Brazil. Data were analyzed using descriptive statistics. RESULTS: orthopedic procedures represented 45% of the operations at the hospital in the period, 1.4% hip arthroplasties. There were 125 hip replacements, 85 total, 27 partial and 13 reviews. Among the patients, 40% were male and 60% were female. Age ranged between 20 and 102 years, mean and median of 73 and 76 years, respectively. The most frequent diagnosis (82%) was femoral neck fracture by low-energy trauma caused by falling form standing position. In 13 revision operations, 12 required removal of the prosthesis. The infectious complication led to revision in 54% of the time, followed by dislocation (15%), peri-prosthetic fracture (15%) and aseptic loosening (15%). The infection etiologic agent was identified in 43% of occasions. The average length of the prosthesis to a revision operation was eight months. CONCLUSION: patients undergoing hip arthroplasty are elderly, with femoral neck fracture caused by falling form standing position, affecting more women. The incidence of hip prosthesis loosening was 10%. The main cause of the infection was loosening. The incidence of revisional hip arthroplasty was 10% and the incidence of hospital mortality in patients undergoing hip arthroplasty was 7.2%.