A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination.

Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads. The gonadal tissues of females contain both granulosa and germ cells. However, the specific sex chromosome composition of the granulosa and germ cells in 46,XX/XY chimeric female is currently unknown. Here, we reported a 30-year-old woman with secondary infertility who displayed a 46,XX/46,XY chimerism in the peripheral blood. FISH testing revealed varying degrees of XX/XY chimerism in multiple tissues of the female patient. Subsequently, the patient underwent preimplantation genetic testing (PGT) treatment, and 26 oocytes were retrieved. From the twenty-four biopsied mature oocytes, a total of 23 first polar bodies (PBs) and 10 second PBs were obtained. These PBs and two immature metaphase I (MI) oocytes only displayed X chromosome signals with no presence of the Y, suggesting that all oocytes in this chimeric female were of XX germ cell origin. On the other hand, granulosa cells obtained from individual follicles exhibited varied proportions of XX/XY cell types, and six follicles possessed 100% XX or XY granulosa cells. A total of 24 oocytes were successfully fertilized, and 12 developed into blastocysts, where 5 being XY and 5 were XX. Two blastocysts were transferred with one originating from an oocyte aspirated from a follicle containing 100% XY granulosa cells. This resulted in a twin pregnancy. Subsequent prenatal diagnosis confirmed normal male and female karyotypes. Ultimately, healthy boy-girl twins were delivered at full term. In summary, this 46,XX/XY chimerism with XX germ cells presented complete female, suggesting that germ cells may exert a significant influence on the sexual determination of an individual, which provide valuable insights into the intricate processes associated with sexual development and reproduction.

[Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].

OBJECTIVE: To carry out cytogenetic and molecular genetic analysis for two infertile patients carrying rare small supernumerary marker chromosomes (sSMC). METHODS: Two infertile patients who received reproductive and genetic counseling at CITIC Xiangya Reproductive and Genetic Hospital on October 31, 2018 and May 10, 2021, respectively were selected as the study subjects. The origin of sSMCs was determined by conventional G banding, fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq). Microdissection combined with high-throughput whole genome sequencing (MicroSeq) was carried out to determine the fragment size and genomic information of their sSMCs. RESULTS: For patient 1, G-banded karyotyping and FISH revealed that he has a karyotype of mos47,XY,del(16)(p10p12),+mar[65]/46,XY,del(16)(p10p12)[6]/48,XY,del(16)(p10p12),+2mar[3].ish mar(Tel 16p-,Tel 16q-,CEP 16-,WCP 16+). CNV analysis has yielded a result of arr[GRCh37]16p12.1p11.2(24999364_33597595)×1[0.25]. MicroSeq revealed that his sSMC has contained the region of chromosome 16 between 24979733 and 34023115 (GRCh37). For patient 2, karyotyping and reverse FISH revealed that she has a karyotype of mos 47,XX,+mar[37]/46,XX[23].rev ish CEN5, and CNV analysis has yielded a result of seq[GRCh37]dup(5)(p12q11.2)chr5:g(45120001_56000000)dup[0.8]. MicroSeq results revealed that her sSMC has contained the region of chromosome 5 between 45132364 and 55967870(GRCh37). After genetic counseling, both couples had opted in vitro fertilization (IVF) treatment and preimplantation genetic testing (PGT). CONCLUSION: For individuals harboring sSMCs, it is vital to delineate the origin and structural characteristics of the sSMCs for their genetic counseling and reproductive guidance. Preimplantation genetic testing after microdissection combined with high-throughput whole genome sequencing (MicroSeq-PGT) can provide an alternative treatment for carrier couples with a high genetic risk.

Mycotic subclavian artery aneurysms: a scoping review.

Introduction: Mycotic subclavian artery aneurysms (SAAs) are a very rare disorder. Aim: To provide an overview of current knowledge on clinical features, management strategies and outcome evaluations of mycotic SAAs. Material and methods: The study materials were based on comprehensive literature retrieval of publications of mycotic SAAs published between 2000 and 2023. Results: Contaminated mechanical injuries and abscess erosions of the arterial walls are mechanisms of mycotic SAAs. The diagnosis relies on detection of pathogenic microorganisms by cultures or microbiological investigations of blood, other fluids and infected tissues as well as medical imaging visualization. The indications for an interventional therapy were poor general condition, high surgical risk, and rescue exclusion for a ruptured pseudoaneurysm. Three (9.1%) pre-treatment deaths were a result of sudden rupture of the mycotic SAAs and thus they lost the opportunity of treatment. All post-treatment deaths occurred in the interventional patient group, whereas the causes of death seemed to be unrelated to mycotic SAAs per se or to treatments of choice. Patient outcome evaluations revealed no significant difference between different treatments of choice. No significant predictive risk factors were responsible for patient outcomes. Conclusions: Once a diagnosis of mycotic SAA is made, sensitive antibacterial drugs are applied immediately to control the infection and control aneurysmal progression. Early treatment is conducted as soon as possible to avoid aneurysmal rupture. A decision on treatment of choice is made based on the patient's specific condition. Antibacterial drug use is continued for about 6 weeks after surgical or interventional therapy.

Hoarseness due to aortic arch aneurysms

Abstract Objective: To give an overview of the Ortner's syndrome caused by an aortic arch aneurysm. Methods: By comprehensive retrieval of the pertinent literature published in the past two decades, 75 reports including 86 patients were collected and recruited into this study along with a recent case of our own. Results: The aortic arch aneurysms causing hoarseness were most commonly mycotic aneurysms. In this patient setting, in addition to the left recurrent laryngeal nerve, trachea was the most commonly affected structure by the aortic arch aneurysm. Surgical/interventional/hybrid treatments led to a hoarseness-relieving rate of 64.3%, much higher than that of patients receiving conservative treatment. However, hoarseness recovery took longer time in the surgically treated patients than in the interventionally treated patients. Conclusion: The surgical and interventional treatments offered similar hoarseness-relieving effects. Surgical or interventional treatment is warranted in such patients for both treatment of arch aneurysms and relief of hoarseness.

Profiles and predictive values of interleukin-6 in aortic dissection: a review

Abstract Aortic dissection (AD) has been recognized to be associated with an inflammatory process. Clinical observations demonstrated that patients with AD had an elevated interleukin (IL)-6 level in comparison to hypertensive or healthy controls. Adverse events such as acute lung injury, postimplantation syndrome, and death are associated with an elevated IL-6 level. Thus, circulating IL-6 could be a reliable biomarker for the diagnosis of AD and for the eveluation of the therapeutic outcomes and the prognosis of AD patients. Therapeutic interventions aiming at attenuating the inflammatory status by IL-6 neutralization could effectively decrease the IL-6 level and thus reverse the progression of the disorder of AD patient. Endovascular aortic repair can effectively control the inflammatory cytokines. Selective antegrade cerebral perfusion with deep hypothermic circulatory arrest during aortic arch replacement shows better neuroprotectve effect with an improved IL-6 level of the cerebrospinal fluid. These results facilitate the understanding of the etiology of AD and guide the directions for the treatment of acute AD in the future. More effective therapeutic agents developed based on the theories of IL-6 signaling involved in the mechasims of AD are anticipated.

Acute kidney injury after cardiac surgery: risk factors and novel biomarkers

Abstract Acute kidney injury (AKI) is a common and severe complication after cardiac surgery. Currently, a series of novel biomarkers have favored the assessment of AKI after cardiac surgery in addition to the conventional indicators. The biomartkers, such as urinary liver fatty acid binding protein (L-FABP), urinary neutrophil gelatinase-associated lipocalin (NGAL), serum L-FABP, heart-type FABP, kidney injury molecule 1 (KIM-1), and interleukin-18 were found to be significantly higher in patients who developed AKI after cardiac surgery than those who did not. Apart from urinary interleukin-18, the novel biomarkers have been recognized as reliable indicators for predicting the diagnosis, adverse outcome, and even mortality of AKI after cardiac surgery. The timing of the renal replacement therapy is a significant predictor relating to patients' prognoses. In patients with AKI after cardiac surgery, renal replacement therapy should be performed as early as possible in order to achieve promising outcomes. In children, AKI after cardiac surgery can be managed with peritoneal dialysis. AKI after cardiac surgery has received extensive attention as it may increase early mortality and impact long-term survival of patients as well. The purpose of this article was to analyze the changes of the pertinent biomarkers, to explore the related risk factors leading to the occurrence of AKI after cardiac surgery, and to provide a basis for the clinical prevention and reduction of AKI.

Postoperative cognitive dysfunction after coronary artery bypass grafting

Abstract Postoperative cognitive dysfunction is a common complication following cardiac surgery. The incidence of cognitive dysfunction is more pronounced in patients receiving a cardiac operation than in those undergoing a non-cardiac operation. Clinical observations demonstrated that pulsatile flow was superior to nonpulsatile flow, and membrane oxygenator was superior to bubble oxygenator in terms of postoperative cognitive status. Nevertheless, cognitive assessments in patients receiving an on-pump and off-pump coronary artery bypass surgery have yielded inconsistent results. The exact mechanisms of postoperative cognitive dysfunction following coronary artery bypass grafting remain uncertain. The dual effects, neuroprotective and neurotoxic, of anesthetics should be thoroughly investigated. The diagnosis should be based on a comprehensive cognitive evaluation with neuropsychiatric tests, cerebral biomarker inspections, and electroencephalographic examination. The management strategies for cognitive dysfunction can be preventive or therapeutic. The preventive strategies of modifying surgical facilities and techniques can be effective for preventing the development of postoperative cognitive dysfunction. Investigational therapies may offer novel strategies of treatments. Anesthetic preconditioning might be helpful for the improvement of this dysfunction.

Predictors of normalization of circulating interleukin-6 after cardiac myxoma resection

Abstract Objective: To disclose the relationships between the anatomic features of cardiac myxomas and plasma interleukin (IL)-6 levels. Methods: Twelve patients undergoing cardiac myxoma resection at The First Hospital of Putian, Teaching Hospital, Fujian Medical University were enrolled into this study. Pre- and postoperative IL-6 levels were determined by an enzyme-linked immunosorbent assay method, and correlations between cardiac myxoma dimension or volume and plasma IL-6 levels were analyzed. C-reactive protein (CRP) levels were also evaluated. Results: IL-6 and CRP levels were significantly decreased one month after cardiac myxoma resection in comparison to preoperative values. IL-6 and CRP levels did not differ between patients with a cardiac myxoma of irregular appearance and those with a myxoma of regular gross appearance, or between patients with a pedicled or a sessile myxoma. Decrement of IL-6 of patients with irregular cardiac myxomas was much higher than that of patients with regular ones, while no intergroup difference was noted in decrement of CRP. A close direct correlation was noted between IL-6 levels and maximal dimension (length) or volume of cardiac myxomas, whereas CRP levels only correlated with maximal dimension of cardiac myxomas. Conclusion: Anatomic features of cardiac myxomas (sessile, irregular appearance, maximal dimension, and volume) could be determinants of the patients' circulating IL-6 levels. IL-6 was likely to be a more sensitive biomarker than CRP in predicting the inflammatory status of patients with cardiac myxoma. Sessile and irregular cardiac myxomas might predict more severe inflammatory conditions for their more abundant endothelial cells and IL-6 overproduction.

Annuloaortic ectasia and arteritis: clinical features, treatments of choice, and causative relations

Abstract The roles that aortitis plays in the development of annuloaortic ectasia (AAE) remain uncertain, while clinical features of AAE in arteritis are largely unknown. This study was designed to highlight the clinical features of AAE, the treatments of choice, and the causative relations between aortitis and AAE. The morphology of the aortic valve leaflets was normal in half of the patients, while the valves were thin and overstretched in the other half. Most patients had an aortic aneurysm. Half of the patients had severe aortic valve insufficiency, and one-quarter of them had dilation of the sinuses of Valsalva. Takayasu arteritis was prone to develop coronary artery lesions, whereas giant cell arteritis were not. Aortic branch lesions in Takayasu arteritis were stenotic or occlusive in 92.9% of the patients, while in giant cell arteritis, they were all dilated lesions. Most patients (94.7%) required surgical treatment with steroid therapy. However, long-term follow-up results showed a higher anastomotic dehiscence rate, particularly in patients with Takayasu arteritis. Further morphometric and pathological research on AAE in arteritis should be undertaken, and more feasible measures should be warranted for preventing postoperative anastomotic dehiscence.

Expressions of transforming growth factor ß1 signaling cytokines in aortic dissection

Abstract Objective: To demonstrate the underlying mechanisms of aortic dissection compared to those of coronary artery disease in terms of the transforming growth factor-beta (TGF-β) signaling pathway. Methods: Twenty consecutive aortic dissection patients and 20 consecutive coronary artery disease patients undergoing a surgical treatment in this hospital were enrolled into this study. The aortic tissues were sampled and the TGF-β1 and its receptor TGF-β receptor I (TβRI) were detected by Western blotting assay. Results: TGF-β1 and TβRI were positively expressed in the aortic tissues in both groups by Western blotting assay. The expressions of the two proteins were significantly higher in the aortic tissue of patients with aortic dissection than in those with coronary artery disease. The quantitative analyses of the relative gray scales of the proteins disclosed close correlations between the expressions of TGF-β1 and TβRI in both the study and control group patients. Conclusions: The aortic remodeling of aortic dissection might differ from that of coronary artery atherosclerosis concerning the nature, mechanism, mode, and activities of TGF-β signaling pathway. The development of aortic dissection could be associated with a significantly enhanced function of TGF-β1/Smad signaling transduction as a result of aortic remodeling incorporating both vascular injury and repair.

Aberrant Origin of Vertebral Artery and its Clinical Implications

Abstract Aberrant origin of vertebral artery is rare. The anatomical features and clinical significance of this lesion remain to be clarified. A comprehensive collection of the pertinent literature resulted in a cohort of 1286 cases involving 955 patients and 331 cadavers. There were more left than right and more unilateral than bilateral aberrant vertebral arteries. Patients with aberrant origin of vertebral artery were often asymptomatic and in only 5.5% of the patients their symptoms were probably related to the aberrant origin of vertebral artery. The acquired cardiovascular lesions were present in 9.5% of the patients, 20.9% of which were vertebral artery-associated lesions. Eight (0.8%) patients had a vertebral artery dissection. Logistic regression analysis showed significant regressions between bovine trunk and left vertebral artery (P=0.000), between the dual origins of vertebral artery and cerebral infarct/thrombus (P=0.041), between associated alternative congenital vascular variants and cervical/aortic dissection/atherosclerosis (P=0.008). Multiple logistic regression demonstrated that side of the aberrant origin of vertebral artery (left vertebral artery) (P=0.014), arch branch pattern (direct arch origin) (P=0.019), presence of the common trunk (P=0.019), associated acquired vascular disorder (P=0.034) and the patients who warranted management (P=0.000) were significant risk predictors for neurological sequelea. The patients with neurological symptoms and those for neck and chest operations/ interventions should be carefully screened for the possibility of an aberrant origin of vertebral artery. The results from the cadaver metrology study are very helpful in the design of the aortic stent. The arch branch pattern has to be taken into consideration before any maneuver in the local region so as to avoid unexpected events in relation to aberrant vertebral artery.

Quadricuspid aortic valve: a comprehensive review

Abstract Quadricuspid aortic valve (QAV) is a rare congenital heart disease. The functional status of QAV is predominantly a pure aortic regurgitation. Clinical manifestations of patients with a QAV depend on the functional status of the QAV and the associated disorders. Significant valvular regurgitation and (or) stenosis is often present with subsequent operation performed at the fifth to sixth decade of life. The functional status of QAV is predominantly regurgitant; whereas pure stenotic QAV can be as few as in only 0.7% of the patients. QAV is usually an isolated anomaly, but other congenital heart defects can be present in 18-32% of the patients. About one-fifth of them require a surgical operation. Tricuspidalization is a preferred technique for QAV repair. As not all the patients with a QAV necessarily warrant a surgical operation, decision-making in patient selection and surgical procedure of choice are crucial. Antibiotic prophylaxis against infective endocarditis is necessary in the QAV patients with unequal-sized cusps.

Valvular disorders in carcinoid heart disease

Abstract Carcinoid heart disease is a rare but important cause of intrinsic right heart valve disorders leading to right heart failure. Occasionally, left-sided heart valves may also be involved. The characteristic cardiac pathological findings of carcinoid heart disease are endocardial thickening as a result of fibrous deposits on the endocardium. Echocardiographic examination and right heart catheterization are very useful for the diagnosis of the lesion. If more cardiac valves are affected, multiple valve replacement should be considered. The management of the pulmonary valve lesion depends on the extent of the diseased valve, either by valvulotomy, valvectomy, or valve replacement. Percutaneous valve implantations in the pulmonary and in the inferior vena cava positions have been advocated for high-risk patients.

Eisenmenger syndrome in pregnancy

Abstract Eisenmenger syndrome is very rare in pregnant women. Debates remain concerning the management of Eisenmenger syndrome in this patient population and the prognosis is unclear in terms of maternal and fetoneonatal outcomes. Epidural analgesia is preferred for Cesarean section as it alleviates perioperative pain and reduces the pulmonary and systemic vascular resistances. Maternal mortality in the presence of Eisenmenger syndrome is reported as 30-50% and even up to 65% in those with Cesarean section. The major causes of death could be hypovolemia, thromboembolism and preeclampsia. Pregnancy should ideally be avoided in a woman with Eisenmenger syndrome concerning the high maternal mortality rate and probable poor prognosis of the baby. A short labour and an atraumatic delivery under epidural block are preferred in the women with a strong desire of pregnancy. The purpose of this article is to discuss the debates of Eisenmenger syndrome in pregnancy and the possible resolutions.

Fungal endocarditis

ABSTRACT Fungal endocarditis is a rare and fatal condition. The Candida and Aspergillus species are the two most common etiologic fungi found responsible for fungal endocarditis. Fever and changing heart murmur are the most common clinical manifestations. Some patients may have a fever of unknown origin as the onset symptom. The diagnosis of fungal endocarditis is challenging, and diagnosis of prosthetic valve fungal endocarditis is extremely difficult. The optimum antifungal therapy still remains debatable. Treating Candida endocarditis can be difficult because the Candida species can form biofilms on native and prosthetic heart valves. Combined treatment appears superior to monotherapy. Combination of antifungal therapy and surgical debridement might bring about better prognosis.

Myocardial bridging

Abstract Myocardial bridging is rare. Myocardial bridges are most commonly localized in the middle segment of the left anterior descending coronary artery. The anatomic features of the bridges vary significantly. Alterations of the endothelial morphology and the vasoactive agents impact on the progression of atherosclerosis of myocardial bridging. Patients may present with chest pain, myocardial infarction, arrhythmia and even sudden death. Patients who respond poorly to the medical treatment with β-blockers warrant a surgical intervention. Myotomy is a preferred surgical procedure for the symptomatic patients. Coronary stent deployment has been in limited use due to the unsatisfactory long-term results.

Mitral valve prolapse in pregnancy

Abstract Mitral valve prolapse is a benign condition. Mitral regurgitation is only complicated in patients with severe mitral valve prolapse. Women with mitral valve prolapse in the absence of other cardiovascular disorders tolerate pregnancy well and do not develop remarkable cardiac complications. Nevertheless, serious complications of mitral valve prolapse, including arrhythmia, infective endocarditis and cerebral ischemic events, can be present in pregnancy. Debates remain with regard to the use of prophylactic antibiotics and β-blockers in the pregnant women with mitral valve prolapse. The prognosis of the pregnant patients might be closely related to the pathological and (or) functional changes of the mitral valve. Non-myxomatous mitral valve prolapse poses no or little obstetric risks in terms of pregnancy, labor and neonatal complications; whereas myxomatous mitral valve prolapse is a major etiology of valvular heart disease in women of childbearing age. In the pregnant patients with mitral valve prolapse progressing into major complications, surgical interventions are considered. Medicinal treatment of such patients with β-blockers should be a concern for the fetal safety.

Cardiac myxoma in pregnancy: a comprehensive review / Mixoma cardíaco na gravidez: revisão abrangente

AbstractObjective:Cardiac myxoma in pregnancy is rare and the clinical characteristics of this entity have been insufficiently elucidated. This article aims to describe the treatment options and the risk factors responsible for the maternal and feto-neonatal prognoses.Methods:A comprehensive search of the literature of cardiac myxoma in pregnancy was conducted and 44 articles with 51 patients were included in the present review.Results:Transthoracic echocardiography was the most common diagnostic tool for the diagnosis of cardiac myxoma during pregnancy. Cardiac myxoma resection was performed in 95.9% (47/49); while no surgical resection was performed in 4.1% (2/49) patients (P=0.000). More patients had an isolated cardiac myxoma resection in comparison to those with a concurrent or staged additional cardiac operation [87.2% (41/47) vs. 12.8% (6/47), P=0.000]. A voluntary termination of the pregnancy was done in 7 (13.7%) cases. In the remaining 31 (60.8%) pregnant patients, cesarean section was the most common delivery mode representing 61.3% and vaginal delivery was more common accounting for 19.4%. Cardiac surgery was performed in the first, second and third trimester in 5 (13.9%), 14 (38.9%) and 17 (47.2%) patients, respectively. No patients died. In the delivery group, 20 (76.9%) neonates were event-free survivals, 4 (15.4%) were complicated and 2 (7.7%) died. Neonatal prognoses did not differ between the delivery modes, treatment options, timing of cardiac surgery and sequence of cardiac myxoma resection in relation to delivery.Conclusion:The diagnosis of cardiac myxoma in pregnancy is important. Surgical treatment of cardiac myxoma in the pregnant patients has brought about favorable maternal and feto-neonatal outcomes in the delivery group, which might be attributable to the shorter operation duration and non-emergency nature of the surgical intervention. Proper timing of cardiac surgery and improved cardiopulmonary bypass conditions may result in even better maternal and feto-neonatal survivals.

ResumoObjetivo:Mixoma cardíaco durante a gravidez é raro e as características clínicas dessa entidade não foram suficientemente esclarecidas. Este artigo tem como objetivo descrever as opções de tratamento e os fatores de risco responsáveis pelo prognóstico materno e fetal-neonatal.Métodos:Foi realizada uma pesquisa abrangente na literatura sobre mixoma cardíaco durante a gravidez e 44 artigos com 51 pacientes foram incluídos na presente revisão.Resultados:Ecocardiografia transtorácica foi a ferramenta de diagnóstico mais comum para o diagnóstico de mixoma cardíaco durante a gravidez. Ressecção do mixoma cardíaco foi realizada em 95,9% (47/49); enquanto não foi realizada ressecção cirúrgica em 4,1% (2/49) dos pacientes (P=0,000). Mais pacientes tiveram ressecção isolada do mixoma cardíaco em comparação com aqueles com operação cardíaca concomitante ou adicional [87,2% (41/47) vs. 12,8% (6/47), P=0,000]. A interrupção voluntária da gravidez foi feita em 7 (13,7%) casos. Nas restantes 31 (60,8%) pacientes grávidas, a cesariana foi o modo de parto mais comum, representando 61,3% e parto vaginal contabilizou 19,4%. A cirurgia cardíaca foi realizada no primeiro, segundo e terceiro trimestre em 5 (13,9%), 14 (38,9%) e 17 (47,2%) pacientes, respectivamente. Nenhuma paciente morreu. No grupo de parto, 20 (76,9%) recém-nascidos sobreviveram livres de eventos, 4 (15,4%) tiveram complicações e 2 (7,7%) morreram. Os prognósticos neonatais não diferiram entre os modos de parto, opções de tratamento, tempo de cirurgia cardíaca e sequência de ressecção mixoma cardíaco em relação ao parto.Conclusão:O diagnóstico de mixoma cardíaco durante a gravidez é importante. Tratamento cirúrgico de mixoma cardíaco em pacientes grávidas trouxe resultados favoráveis para as mães e os neonatos no grupo de parto, o que pode ser atribuído à duração mais curta da operação e à natureza não emergencial da intervenção cirúrgica. O momento adequado da cirurgia cardíaca e melhoria das condições de circulação extracorpórea podem resultar em sobrevivência materna e do feto-neonato ainda melhor.

Sternal wound tuberculosis following cardiac operations: a review / Tuberculose na ferida esternal após operações cardíacas: uma revisão

AbstractObjective:The diagnosis and treatment of sternal wound infections with mycobacteria are challenging. Such an infection is often associated with a delayed diagnosis and improper treatment that may lead to a worsened clinical outcome. The present study is designed to highlight its clinical features so as to facilitate a prompt diagnosis and timely treatment.Methods:MEDLINE, Highwire Press, and Google search engine were searched for publications in the English language, with no time limit, reporting on sternal wound infection caused by tuberculosis after cardiac surgery.Results:A total of 12 articles reporting on 14 patients were included in this study. Coronary artery bypass grafting was the underlying surgical procedure in more than half of the cases. Purulent discharge and cold abscess were the two main presenting symptoms. Diagnosis of sternal wound infection was evidenced in all 14 patients by different investigations, with culture of samples being the most sensitive method of identifying the pathogen. Good response to first-line anti-tuberculous agents was noted. Almost all patients required surgical debridement/resection and, sometimes, sternal reconstruction. A delayed diagnosis of sternal wound infection may lead to repeated recurrences. A comparison between patients with sternal wound infection due to tuberculosis and non-tuberculous mycobacterial infections showed that the former infections took an even longer period of time. Comparisons also revealed patients with sternal tuberculosis infection had a significantly higher mortality than patients with sternal non-tuberculous infection (29.2% vs. 0%, P=0.051).Conclusion:Sternal infection caused by tuberculosis after cardiac surgery has a longer latency, better response to first-line drugs, and better outcomes in comparison with non-tuberculous sternal infection. Early diagnosis and early anti-tuberculous treatment can surely improve the patients' prognosis.

ResumoObjetivo:O diagnóstico e tratamento da infecção esternal com micobactérias são desafiadores. Essa infecção é muitas vezes associada a um diagnóstico tardio e o tratamento inadequado que pode levar a um resultado clínico pior. O presente estudo tem como objetivo destacar suas características clínicas, a fim de facilitar um diagnóstico rápido e tratamento adequado em tempo hábil.Métodos:MEDLINE, Highwire Press, e o mecanismo de busca Google foram pesquisados por publicações em Inglês, sem limite de tempo, relatando sobre infecção de ferida esternal causada por tuberculose após cirurgia cardíaca.Resultados:Um total de 12 artigos, descrevendo 14 pacientes, foram incluídos no estudo. A revascularização do miocárdio foi o procedimento cirúrgico subjacente em mais da metade dos casos. Secreção purulenta e abscesso frio foram os dois principais sintomas apresentados. O diagnóstico de infecção de ferida esternal foi evidenciado em todos os 14 pacientes por diferentes investigações, com a cultura de amostras sendo o método mais sensível para identificar o agente patogênico. Boa resposta a agentes antituberculosos de primeira linha foi observada. Quase todos os pacientes necessitaram de desbridamento cirúrgico/ressecção e, em alguns casos, reconstrução esternal. Um diagnóstico tardio da infecção de ferida esternal pode levar a recorrências repetidas. Uma comparação entre pacientes com infecção de ferida esternal devido a infecções tuberculosas e micobactérias não tuberculosas mostrou que as infecções por tuberculose duraram um período de tempo maior. Comparações também revelaram que pacientes com infecção esternal por tuberculose tiveram mortalidade significativamente mais elevada do que os pacientes com infecção esternal por micobactérias não tuberculosas (29,2% vs. 0%; P=0,051).Conclusão:A infecção esternal por tuberculose após cirurgia cardíaca tem uma latência maior, melhor resposta aos medicamentos de primeira linha e melhores resultados em comparação com a infecção esternal por micobactérias não tuberculosas. O diagnóstico precoce e o rápido tratamento antituberculose podem certamente melhorar o prognóstico dos pacientes.

α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies

ABSTRACT α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse vasculopathies such as thoracic aortic aneurysms and dissections as well as occlusive vascular diseases, including premature coronary artery disease and ischemic stroke. Dynamics of differentiation-specific α-smooth muscle actin in arterial smooth muscle cells and proliferation of the proteins have been well described. Although a variety of research works have been undertaken in terms of modifications of α-smooth muscle actin and mutations of ACTA2 gene and myosin, the underlying mechanisms towards the pathological processes by way of gene mutations are yet to be clarified. The purpose of the present article is to describe the phenotypes of α-smooth muscle actin and implications of ACTA2 mutations in vasculopathies in order to enhance the understanding of potential mechanisms of aortic and coronary disorders.