Abdominoplasty and Thoraco-Epigastric Flaps for Large Anterior Trunk Defects after Dermatofibrosarcoma Protuberans Wide Resection: Two Illustrative Cases

INTRODUCTION: Excision of large dermatofibrosarcoma protuberans in the anterior aspect of the trunk often results in large surgical defects that frequently dictate the need for microsurgical reconstruction. However, this option is not always available. PRESENTATION OF CASE: The authors describe two patients with very large anterior trunk dermatofibrosarcoma protuberans: one in the epigastric region and the other in the hypogastric region. In the patient with the hypogastric tumor, a classical abdominoplasty flap associated with umbilical transposition was used to cover the skin defect after muscle and fascial plication, and placement of a polypropylene mesh. In the patient with the epigastric tumor, a synthetic mesh was also placed, and the skin and subcutaneous defect was reconstructed with a reverse abdominoplasty flap and two thoraco-epigastric flaps. In both cases, complete closure was possible without immediate or late complications. DISCUSSION: The local options described in this paper present several potential advantages compared to microsurgical reconstruction, namely they are easier and faster to perform and teach; they provide a good skin color and texture match; they are not associated with distant donor site morbidity; follow-up is usually less cumbersome; the post-operative hospital stay tends to be shorter; they are less costly; they are less prone to complete failure. CONCLUSION: The authors believe that these two patients clearly show that local flaps, although frequently neglected, continue to be valid options for reconstructing large anterior trunk defects, even in the current era of microsurgery enthusiasm.

Atrial Septal Defects

Atrial septal defects are the third most common type of congenital heart disease. Included in this group of malformations are several types of atrial communications that allow shunting of blood between the systemic and the pulmonary circulations. Most children with isolated atrial septal defects are free of symptoms, but the rates of exercise intolerance, atrial tachyarrhythmias, right ventricular dysfunction, and pulmonary hypertension increase with advancing age and life expectancy is reduced in adults with untreated defects. The risk of development of pulmonary vascular disease, a potentially lethal complication, is higher in female patients and in older adults with untreated defects. Surgical closure is safe and effective and when done before age 25 years is associated with normal life expectancy. Transcatheter closure offers a less invasive alternative for patients with a secundum defect who fulfil anatomical and size criteria. In this Seminar we review the causes, anatomy, pathophysiology, treatment, and outcomes of atrial septal defects in children and adult patients in whom this defect is the primary cardiac anomaly.

Encerramento Percutâneo de Shunts Interauriculares: Experiência de uma Década de um Centro Terciário

INTRODUCTION: Atrial septal defects (ASD) are among the most common congenital anomalies and account for 10% of congenital heart disease in the pediatric age-group and 30% in adults. Closure is indicated when there is evidence of hemodynamic significance or after a paradoxical embolic event. Ten years ago, percutaneous closure became the treatment of choice in our center for all patients with a clear indication and favorable anatomy. In this paper we report the experience of this first decade. OBJECTIVE: To assess the short- and long-term results of our ten-year experience with percutaneous closure of atrial septal defects. METHODS: We studied retrospectively all patients with ASD treated with a percutaneous approach between November 1998 and December 2008. The pediatric age-group consisted of patients younger than 19 years old. Demographic data, clinical indications, minor and major complication rates, success rate and long-term outcome were assessed. RESULTS: In the first ten years of experience 510 patients, of whom 166 were in the pediatric group, were treated in our center by a team of adult and pediatric cardiologists. The overall success rate of the procedure was 98% (97.5% in ASD and 99.5% in patent foramen ovale (PFO). The minor complication rate was 3% (3.4% in ASD and 2% in PFO). The most frequent complication was supraventricular tachycardia. The major complication rate was 1.2% (0.6% in ASD and 2% in PFO). Two patients developed cardiac tamponade due to hemopericardium that was resolved by pericardiocentesis, without need for surgery. One patient had an arterial pseudoaneurysm corrected by vascular surgery. There was no device embolization and no need for urgent surgery in this population. During follow-up two patients had recurrence of ischemic stroke, one had a transient ischemic attack and another had a hemorrhagic stroke. Mortality was 0.6% (0.6% in ASD and 0.5% in PFO). There were no in-hospital deaths. During follow-up there were two deaths, both in the adult group. DISCUSSION AND CONCLUSION: In this population the success rate was high and most of the complications were minor. The results of this collaboration between adult and pediatric cardiologists in the first ten years of activity confirm the safety and efficacy of percutaneous closure of septal defects, when there is careful patient selection and a standardized technique.

Aracnoidite Adesiva Lombar

Spinal arachnoiditis, an inflammatory process involving all three meningeal layers as well as the nerve roots, is a cause of persistent symptoms in 6% to 16% of postoperative patients. Although spinal surgery is the most common antecedent associated with arachnoiditis, multiple causes have been reported, including infection, intrathecal steroids or anesthetic agents, trauma, subarachnoid hemorrhage and ionic myelographic contrast material--both oil soluble and water soluble. In the past, oil-based intrathecal contrast agents (Pantopaque) were associated with arachnoiditis especially when this material was introduced into the thecal sac and mixed with blood. Arachnoiditis is apparently rarely idiopathic. The pathogenesis of spinal arachnoiditis is similar to the repair process of serous membranes, such as the peritoneum, with a negligible inflammatory cellular exudate and a prominent fibrinous exudate. Chronic adhesive arachnoiditis of the lower spine is a myelographic diagnosis. The myelographic findings of arachnoiditis were divided into two types by Jorgensen et al. In type 1, "the empty thecal sac" appearance, there is homogeneous filling of the thecal sac with either absence of or defects involving nerve root sleeve filling. In type 2 arachnoiditis, there are localized or diffuse filling defects within the contrast column. MRI has demonstrated a sensitivity of 92% and a specificity of 100% in the diagnosis of arachnoiditis. The appearance of arachnoiditis on MRI can be assigned to three main groups. The MRI findings in group I are a conglomeration of adherent roots positioned centrally in the thecal sac. Patients in group II show roots peripherally adherent to the meninges--the so called empty sac. MRI findings in group III are a soft tissue mass within the subarachnoid space. It corresponds to the type 2 categorization defined by Jorgensen et al, where as the MRI imaging types I and II correspond to the myelographic type 1.

Utilidade do Doppler Tecidular na Predição de Eventos Arrítmicos em Adultos com Tetralogia de Fallot Corrigida

INTRODUCTION: Adults with repaired tetralogy of Fallot (TOF) may be at risk for progressive right ventricular (RV) dilatation and dysfunction, which is commonly associated with arrhythmic events. In frequently volume-overloaded patients with congenital heart disease, tissue Doppler imaging (TDI) is particularly useful for assessing RV function. However, it is not known whether RV TDI can predict outcome in this population. OBJECTIVE: To evaluate whether RV TDI parameters are associated with supraventricular arrhythmic events in adults with repaired TOF. METHODS: We studied 40 consecutive patients with repaired TOF (mean age 35 +/- 11 years, 62% male) referred for routine echocardiographic exam between 2007 and 2008. The following echocardiographic measurements were obtained: left ventricular (LV) ejection fraction, LV end-systolic volume, LV end-diastolic volume, RV fractional area change, RV end-systolic area, RV end-diastolic area, left and right atrial volumes, mitral E and A velocities, RV myocardial performance index (Tei index), tricuspid annular plane systolic excursion (TAPSE), myocardial isovolumic acceleration (IVA), pulmonary regurgitation color flow area, TDI basal lateral, septal and RV lateral peak diastolic and systolic annular velocities (E' 1, A' 1, S' 1, E' s, A' s, S' s, E' rv, A' rv, S' rv), strain, strain rate and tissue tracking of the same segments. QRS duration on resting ECG, total duration of Bruce treadmill exercise stress test and presence of exercise-induced arrhythmias were also analyzed. The patients were subsequently divided into two groups: Group 1--12 patients with previous documented supraventricular arrhythmias (atrial tachycardia, fibrillation or flutter) and Group 2 (control group)--28 patients with no previous arrhythmic events. Univariate and multivariate analysis was used to assess the statistical association between the studied parameters and arrhythmic events. RESULTS: Patients with previous events were older (41 +/- 14 vs. 31 +/- 6 years, p = 0.005), had wider QRS (173 +/- 20 vs. 140 +/- 32 ms, p = 0.01) and lower maximum heart rate on treadmill stress testing (69 +/- 35 vs. 92 +/- 9%, p = 0.03). All patients were in NYHA class I or II. Clinical characteristics including age at corrective surgery, previous palliative surgery and residual defects did not differ significantly between the two groups. Left and right cardiac chamber dimensions and ventricular and valvular function as evaluated by conventional Doppler parameters were also not significantly different. Right ventricular strain and strain rate were similar between the groups. However, right ventricular myocardial TDI systolic (Sa: 5.4+2 vs. 8.5 +/- 3, p = 0.004) and diastolic indices and velocities (Ea, Aa, septal E/Ea, and RV free wall tissue tracking) were significantly reduced in patients with arrhythmias compared to the control group. Multivariate linear regression analysis identified RV early diastolic velocity as the sole variable independently associated with arrhythmic history (RV Ea: 4.5 +/- 1 vs. 6.7 +/- 2 cm/s, p = 0.01). A cut-off for RV Ea of < 6.1 cm/s identified patients in the arrhythmic group with 86% sensitivity and 59% specificity (AUC = 0.8). CONCLUSIONS: Our results suggest that TDI may detect RV dysfunction in patients with apparently normal function as assessed by conventional echocardiographic parameters. Reduction in RV early diastolic velocity appears to be an early abnormality and is associated with occurrence of arrhythmic events. TDI may be useful in risk stratification of patients with repaired tetralogy of Fallot.

Tratamento Cirúrgico dos Defeitos do Septo Auriculo-Ventricular. Experiência Uni-Institucional

OBJECTIVES: Atrio-ventricular septal (AVSD) defects include a variable spectrum of congenital malformations with different forms of clinical presentation. We report the surgical results, from a single institution, with this type of congenital cardiac malformation. Patients with hypoplasia of one of the ventricles were excluded from this analysis. POPULATION: Between November of 1998 and June of 2005, 49 patients with AVSD were operated on by the same team and in the same department. The average age was 37.3 months (medium 6 months) and 31 patients were female. In 38 patients (78%) an inter-ventricular communication was present (AVSD-complete) and of these, 26 were of the type A of Rastelli, being 13 of type B or C. The age for defect correction of the complete form was of 5.5 months, palliative surgery was not carried out on any of the patients. Associated lesions included: Down's syndrome in 22 patients (45%), patent arterial duct in 17 patients (35%), severe AV regurgitation in 4 patients (8%), tetralogy of Fallot in two (4%) and sub-aortic stenosis in one patient (2%). Pre-operatively 10 patients presented severe congestive heart failure and two were mechanically ventilated. RESULTS: Complete biventricular correction was carried out in all patients. The average time on bypass (ECC) was 74.1+/-17.5 min. and time of aortic clamping was 52.0+/-12.9 min. The complete defects were corrected by the double patch technique, and in all patients the mitral cleft was closed, except in two with single papillary muscle. There was no intra-operative mortality, but hospital mortality was 8%(4 patients), due to pulmonary hypertension crises, in the first 15 post-operative days. The mean ventilation time was of 36.5+/-93 hours (medium 7 h) and the average ICU stay was of 4.3+/-4.8 days (medium 3 days). The minimum follow-up period is 1 month and the maximum is 84 months (medium 29.5 months), during which time 4 re-operations (8%) took place: two for residual VSD's and two for mitral regurgitation. There was no mortality at re-do surgery. At follow up there was residual mitral regurgitation, mild in 17 patients and moderate in two. Four other patients presented with minor residual defects. CONCLUSIONS: The complete correction of AVSD can be carried out with acceptable results, in a varied spectrum of anatomic forms and of clinical severity. Despite the age of correction, for the complete forms, predominantly below 12 months, pulmonary hypertension was the constant cause for post operative mortality. Earlier timing of surgery and stricter peri-operative control might still improve results.

Upper Eyelid Reconstruction With a Horizontal V-Y Myotarsocutaneous Advancement Flap

Upper eyelid tumours, particularly basal cell carcinomas, are relatively frequent. Surgical ablation of these lesions creates defects of variable complexity. Although several options are available for lower eyelid reconstruction, fewer surgical alternatives exist for upper eyelid reconstruction. Large defects of this region are usually reconstructed with two-step procedures. In 1997, Okada et al. described a horizontal V-Y myotarsocutaneous advancement flap for reconstruction of a large upper eyelid defect in a single operative time. However, no further studies were published regarding the use of this particular flap in upper eyelid reconstruction. In addition, this flap is not described in most plastic surgery textbooks. The authors report here their experience of 16 cases of horizontal V-Y myotarsocutaneous advancement flaps used to reconstruct full-thickness defects of the upper eyelid after tumour excision. The tumour histological types were as follows: 12 basal cell carcinomas, 2 cases of squamous cell carcinomas, 1 case of sebaceous cell carcinoma and 1 of malignant melanoma. This technique allowed closure of defects of up to 60% of the eyelid width. None of the flaps suffered necrosis. The mean operative time was 30 min. No additional procedures were necessary as good functional and cosmetic results were achieved in all cases. No recurrences were noted. In this series, the horizontal V-Y myotarsocutaneous advancement flap proved to be a technically simple, reliable and expeditious option for reconstruction of full-thickness upper eyelid defects (as wide as 60% of the eyelid width) in a single operative procedure. In the future this technique may become the preferential option for such defects.

The Turbocharged Becker Flap: a Simple Variation that Allows Coverage of Most of the Dorsum of the Hand

Cover of medium and large defects of the dorsum of the hand remains a substantial surgical challenge that often requires free tissue transfer. We report the case of a 28-year-old male who presented with necrosis of most of the dorsum of his dominant hand after an iatrogenic injury. A large Becker flap was raised to cover the entire defect. However, venous insufficiency was noted intraoperatively. The flap was turbocharged by performing a venous anastomosis between the flap and the recipient site, resulting in complete survival of the flap. The authors conclude that the turbocharged Becker flap can be a good alternative for expeditiously covering large defects of the dorsum of the hand without having to resort to free tissue transfer.

Reconstruction of Large Defect of Foot with Extensive Bone Loss Exclusively Using a Latissimus Dorsi Muscle Free Flap: a Potential New Indication for this Flap

In cases of extensive damage to the foot, with significant bone loss, it is generally accepted that reconstruction must include bone flaps or grafts either in the emergency setting or subsequently. In this report, we describe the case of an 18-year-old student with an avulsion injury of the dorsum of his right foot. Consequently, he lost most of the soft tissue over the dorsum of the foot and the cuboid, navicular, and cuneiform bones. A latissimus dorsi free flap was used to reconstruct the defect. A functional pseudoarthrosis developed between the remaining bones of the foot, and the patient experienced satisfactory foot function after rehabilitation. For this reason, no additional reconstructive procedure was undertaken. This case suggests that it might be adequate to use the latissimus dorsi muscle flap more liberally than previously reported in the reconstruction of extensive defects of the dorsum of the foot, including cases with significant bone loss. This option could avoid the morbidity and inconvenience of a second surgery and the need to harvest a bone flap or graft.

Defeitos do Tubo Neural. Experiência de 10 Anos numa Maternidade Central

OBJECTIVES: 1) To determine trends in prevalence of neural tube defects and the impact of therapeutic abortion. 2) To review perinatal management of spina bifida. DESIGN: All spontaneous and therapeutic abortions, still births and live births affected by neural tube defects registered in Alfredo da Costa Maternity in Lisbon, from 1983 to 1992, were retrospectively analysed. RESULTS: Eighty-two cases with neural tube defects are reported and myelomeningocele and anencephaly++ were the most frequent ones. Total prevalence for all defects was 0.78:1000 births with a small upward trend during the last two years. Birth prevalence was 0.6:1000, with a clear downward trend, due to therapeutic abortion. Prenatal diagnosis improved significantly, from 9% of all defects detected in 1983-87 to 77.5% in 1988-92. Since 1989, all cases of anencephaly were detected before birth. Most cases of spina bifida were vaginally delivered, and elective cesarean section occurred in 4. Early closure of the defect was undertaken in 87.6% of the newborns with open spina bifida. CONCLUSION: While total prevalence of neural tube defects remained stable, with only a small upward trend, prenatal diagnosis and therapeutic abortion resulted in a 56.3% fall in birth prevalence. Optimal management of open spina bifida demands a multidisciplinary team with an individual program for each case.

Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

Gravidez após Colocação de Banda Gástrica para Tratamento da Obesidade Mórbida

Obesity is known to have a negative impact on pregnancy outcome, as it is associated with an increase in the incidence of gestational diabetes, hypertension, preeclampsia, neural tube defects, macrosomia, and late fetal death. Gastric banding is considered an appropriate intervention for morbid obesity when other weight-loss measures are unsuccessful, and this treatment has been shown to be effective in causing a sustainable weight loss. Some women will become pregnant after bariatric surgery, and the nutritional and metabolic challenges brought by gastric banding may have a profound impact on maternal health and pregnancy outcome. The authors report the case of a 27 year old pregnant woman, with a past medical history of gastric banding surgery for morbid obesity. At 18 weeks of gestation, the patient started complaining of severe nausea and vomiting, The situation deteriorated three weeks later when she rapidly developed severe desnutrition, dehydration and early signs of liver and renal failure. Migration of the gastric band was diagnosed, and laparoscopy conducted to remove it. In the day following surgery the patient complained of absent fetal movements, and an intrauterine demise was diagnosed on ultrasound. Pathological examination of the fetus and placenta failed to reveal the cause of death, but no growth restriction was documented, suggesting the occurrence of an acute event.

Mastocytosis: a Rare Case of Anaphylaxis in Paediatric Age and Literature Review

The term “mastocytosis” denotes a heterogeneous group of disorders characterised by abnormal growth and accumulation of mast cells (MC) in one or more organ systems. Symptoms result from MC chemical mediator’s release, pathologic infiltration of neoplastic MC in tissues or both. Multiple molecular, genetic and chromosomal defects seem to contribute to an autonomous growth, but somatic c-kit D816V mutation is more frequently encountered, especially in systemic disease. We present a literature review of mastocytosis and a rare case report of an 18 month-old-girl with a bullous dermatosis, respiratory distress and anaphylaxis, as clinical manifestations of mastocytosis. The developments of accepted classification systems and novel useful markers allowed a re-evaluation and updating of the classification of mastocytosis. In paediatric age cutaneous forms of disease prevail and may regress spontaneously. SM is more frequently diagnosed in adults and is a persistent(clonal) disease of bone marrow. The clinical course in these patients is variable.Today diagnostic criteria for each disease variant are reasonably well defined. There are, however, peculiarities, namely in paediatric age, that makes the diagnostic approach difficult. Systemic disease may pose differential diagnostic problems resulting from multiple organ systems involvement. Coversly, the “unexplained” appearance of those symptoms with no skin lesions should raise the suspicion of MC disease. This case is reported in order to stress the clinical severity and difficult diagnostic approach that paediatric mastocytosis may assume.

Cerebrospinal Fluid Synaptic Proteins as Useful Biomarkers in Tyrosine Hydroxylase Deficiency

Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type “B”: early onset severe encephalopathy; type “A”: later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of patients with TH deficiency and their possible relation with the clinical phenotype and response to L-DOPA. Dopamine transporter (DAT), D2-receptor and vesicularmonoamine transporter (VMAT2)weremeasured in the CSF of 10 subjectswith THdeficiency byWestern blot analysis. In 3 patients, data of pre- and post-treatmentwith L-DOPA were available, and in one of them, GABA vesicular transporter was determined. Results were compared to an age-matched control population. The concentration of D2-receptors in CSFwas significantly higher in patients with TH deficiency than in controls. Similarly, DAT and vesicular monoamine transporter type 2 were up-regulated. Studies performed before LDOPA, and on L-DOPA therapy showed a paradoxical response with D2 receptor expression increase as L-Dopa doses and homovanillic concentration gradually raised in a B phenotype patient. The opposite results were found in two patients with A phenotype. However, this is a very small sample, and further studies are needed to conclude robust differences between phenotypes. Synaptic proteins are detectable in the CSF and their quantification can be useful for understanding the pathophysiology of neurotransmitter defects and potentially to adjust and personalize treatments in the future.