The Self-Inflicted Burns - Typology and its Prognostic Relevance in a 14-Year Review of Self-Inflicted Burns in a Tertiary Referral Centre

Self-inflicted burns (SIB) are responsible for 2-6% of admissions to Burn Units in Europe and North America, and for as many as 25% of admissions in developing nations. Recently, a promising new tool was proposed to stratify SIB patients in the following subgroups: "typical", "delirious", and "reactive". However, as far as the authors know, the clinical usefulness of this instrument has not yet been validated by others. We retrospectively reviewed the clinical records of 56 patients admitted to our Burn Unit with the diagnosis of SIB injury in the past 14 years. The following parameters were evaluated: demographic features; psychiatric illness; substance abuse; mechanism of injury; burn depth, total body surface area (TBSA) involved, Abbreviated Burn Severity Index (ABSI); length of hospital stay, and mortality. All patients were followed up by a psychologist and a psychiatrist, and were classified according to the SIB-Typology Tool, into three classes: "typical", "delirious" and "reactive". There was a slight predominance of the "typical" type (44.6%), followed by the "delirious" type (30.4%), and, finally the "reactive" type (25.0%). Mortality was significantly higher in the "typical" subgroup. In conclusion, the SIB-Typology Tool appears to be a valuable instrument in the clinical management of SIB patients.

Lupus and Pregnancy. 15 Years of Experience in a Tertiary Center

This retrospective study was designed to evaluate the outcome of pregnancies in women diagnosed with systemic lupus erythematosus (SLE) followed in a tertiary fetal–maternal center. Data were collected from clinical charts between January 1993 and December 2007, with a total of 136 pregnancies (107 patients). Mean maternal age was 29 years, with the vast majority of patients being Caucasian. Most patients were in remission 6 months prior to pregnancy (93%) and the most frequently affected organs were the skin and joints. Renal lupus accounted for 14% of all cases. Twenty-nine percent of patients were positive for at least one antiphospholid antibody (aPL) and nearly 50% had positive SSa/SSb antibodies. All patients with positive aPL received low-dosage aspirin and low molecular- weight heparin (LMWH). There were no pregnancy complications in more than 50% of cases and hypertensive disease and intrauterine growth restriction were the most common adverse events. There were 125 live births, one neonatal death, eight miscarriages, and three medical terminations of pregnancy. Preterm delivery occurred in 25% of pregnancies. Our results are probably the conjoined result of a multidisciplinary approach together with a systematic management of SLE pregnancies, with most patients keeping their prior SLE medication combined with low-dosage aspirin and LMWH in the presence of aPL.

Primary Disorders of Neurotransmitter Metabolism: Experience of a Tertiary Center

Neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. Biogenic amines are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. Methods: Case review of 12 patients from 4 families, with primary disorders of biogenic amine metabolism. Results: Aromatic L-amino acid decarboxylase deficiency (4 patients from 2 families), and GTP-cyclohydrolase (8 patients from 2 families) were the two diseases identified. Age at first symptoms varied between 2 months and 6 years. Developmental delay was present in all cases except 2 patients with GTP cyclohydrolase deficiency. The combination of axial hypotonia and limb dystonia was also frequent. Children with aromatic L-amino acid decarboxylase deficiency exhibited temperature instability, oculogyric crisis and disturbances of sleep. The index case of one family with GTP cyclohydrolase deficiency presented with Parkinsonism (bradykinesia, rigidity and hypomimia). Analysis of neurotransmitters and their metabolites in CSF was crucial for the identification of index cases. Response to therapy was variable but in general unsatisfactory except in a family with GTP cyclohydrolase deficiency. Conclusions: These disorders should be considered in the differential diagnosis of paediatric neurodegenerative diseases, in order to allow an adequate therapeutic trial that can favor prognosis.

Tumors of the Brachial Plexus in a Tertiary Referral Center: a Case Series and Literature Review

Introduction: Brachial plexus (BP) tumors are very rare tumors, with less than 800 cases been described in the literature worldwide since 1970. These tumors often present as local or radicular pain, with scant or no neurological deficits. These symptoms are shared by many other more common rheumatologic diseases, thus making their diagnosis difficult in most cases. Additionally, these tumors often present as lumps and are therefore biopsied, which carries a significant risk of iatrogenic nerve injury. Material and Methods: In this paper the authors describe their experience with the management of 5 patients with BP tumors followed up for at least 2 years. There were 4 males and 1 female. Median follow-up time was 41 ± 21 months. Average age at diagnosis was 40,0 ± 19,9 years. The most common complaints at presentation were pain and sensibility changes. All patients had a positive Tinel sign when the lesion was percussed. In all patients surgery was undertaken and the tumors removed. In 4 patients nerve integrity was maintained. In one patient with excruciating pain a segment of the nerve had to be excised and the nerve defect was bridged with sural nerve grafts. Results: Pathology examination of the resected specimens revealed a Schwannoma in 4 cases and a neurofibroma in the patient submitted to segmental nerve resection. Two years postoperatively, no recurrences were observed. All patients revealed clinical improvement. The patient submitted to nerve resection had improvement in pain, but presented diminished strength and sensibility in the involved nerve territory. Conclusion: Surgical excision of BP tumors is not a risk free procedure. Most authors suggest surgery if the lesion is symptomatic or progressing in size. If the tumor is stationary and not associated with neurological dysfunction a conservative approach should be taken.

Fractures in Children and Adolescents with Spina Bifida: The Experience of a Portuguese Tertiary-Care Hospital

AIM: The morbidity associated with osteoporosis and fractures in children and adolescents with spina bifida highlights the importance of osteoporosis prevention and treatment in these patients. The aim of this study was to examine the occurrence and pattern of bone fractures in paediatric patients with spina bifida. METHOD: We reviewed the data of all paediatric patients with spina bifida who were treated in our centre between 1999 and 2008. RESULTS: One hundred and thirteen patients were included in the study (63 females, 50 males; mean age 10y 8mo, SD 4y 10mo, range 6mo-18y). The motor levels were thoracic in six, upper lumbar in 22, lower lumbar in 42, and sacral in 43 patients. Of the 113 patients, 58 (51.3%) had shunted hydrocephalus. Thirty-six (31.8%) were non-ambulatory (wheelchair-dependent [unable to self-propel wheelchair] n=3, wheelchair-independent [able to self-propel wheelchair] n=33), 13 were partial ambulators, 61 were full ambulators, and three were below the age of walking. Forty-five fractures were reported in 25 patients. The distal femur was the most common fracture site. Statistical analyses showed that patients with higher levels of involvement and in wheelchairs had a significantly increased risk of having a [corrected] fracture (p<0.001). Spontaneous fractures were the principal mechanism of injury, and an association was identified between fracture mechanism, type of ambulation, and lesion level: the fractures of patients with higher levels of motor functioning and those in wheelchairs were mainly pathological (p=0.01). We identified an association between risk of a second fracture, higher motor level lesion, and non-ambulation. There was an increased risk of having a second fracture after a previous spontaneous fracture (p=0.004). INTERPRETATION: Data in this study indicate a high prevalence of fractures in patients with spina bifida.

Acquired Cold Urticaria: Clinical Features, Particular Phenotypes, and Disease Course in a Tertiary Care Center Cohort

BACKGROUND: Data about special phenotypes, natural course, and prognostic variables of patients with acquired cold urticaria (ACU) are scarce. OBJECTIVES: We sought to describe the clinical features and disease course of patients with ACU, with special attention paid to particular phenotypes, and to examine possible parameters that could predict the evolution of the disease. METHODS: This study was a retrospective chart review of 74 patients with ACU who visited a tertiary referral center of urticaria between 2005 and 2015. RESULTS: Fourteen patients (18.9%) presented with life-threatening reactions after cold exposure, and 21 (28.4%) showed negative results after cold stimulation tests (classified as atypical ACU). Nineteen patients (25.7%) achieved complete symptoms resolution at the end of the surveillance period and had no subsequent recurrences. Higher rates of atypical ACU along with a lower likelihood of achieving complete symptom resolution was observed in patients who had an onset of symptoms during childhood (P < .05). In patients with atypical ACU, shorter disease duration and lower doses of antihistamines required for achieving disease control were detected (P < .05). Age at disease onset, symptom severity, and cold urticaria threshold values were found to be related to disease evolution (P < .05). LIMITATIONS: This study was limited by its retrospective nature. CONCLUSIONS: The knowledge of the clinical predictors of the disease evolution along with the clinical features of ACU phenotypes would allow for the establishment of an early and proper therapeutic strategy.

Mutilations Due to Medical Disorders in Children

Soft-tissue and bone necrosis, although rare in childhood, occasionally occur in the course of infectious diseases, either viral or bacterial, and seem to be the result of hypoperfusion on a background of disseminated intravascular coagulation. Treatment consists in correction of septic shock and control of necrosis. Necrosis, once started, shows extraordinarily rapid evolution, leading to soft-tissue and bone destruction and resulting in anatomic, functional, psychological, and social handicaps. Ten mutilated children were treated from January 1986 to January 1999 in Hospital de Dona Estefaˆ nia, Lisbon, Portugal. One was recovering from hemolytic-uremic syndrome with a severe combined immunodeficiency, another malnourished, anemic child had malaria, and three had chicken pox (in one case complicated by meningococcal septicemia). There were three cases of meningococcal and two of pyocyanic septicemia (one in a burned child and one in a patient with infectious mononucleosis). The lower limbs (knee,leg, foot) were involved in five cases, the face (ear, nose, lip) in four, the perineum in three, the pelvis (inguinal region, iliac crest) in two, the axilla in one, and the upper limb (radius, hand) in two. Primary prevention is based on early recognition of risk factors and timely correction. Secondary prevention consists of immediate etiologic and thrombolytic treatment to restrict the area of necrosis. Tertiary prevention relies on adequate rehabilitation with physiotherapy and secondary operations to obtain the best possible functional and esthetic result.

Complicações Hemorrágicas e/ou Tromboembólicas em Doentes sob Anticoagulação Oral Regularmente Seguidos em Consulta Diferenciada

A consulta de hipocoagulação de um hospital central contempla uma população bastante diversificada, pelo que uma melhor compreensão das características da mesma, poderá levar à melhoria da prestação de cuidados de saúde e à diminuição do número de complicações tromboembólicas (resultantes da patologia base) e hemorrágicas [resultantes da própria terapêutica anticoagulante (ACO)]. Objectivos: Avaliar as características da população que frequenta a consulta de hipocoagulação e analisar quais podem predizer um maior risco de complicações. Métodos: Utilizaram-se os dados colhidos por um médico através de um questionário colocado a doentes durante a consulta de hipocoagulação. Foram efectuados 101 questionários e avaliaram-se as características demográficas (sexo, idade, escolaridade, grau de analfabetismo), os factores de risco clássicos para doença coronária, o diagnóstico que levou ao início da ACO, a duração da ACO, a periodicidade da determinação e valores mínimos, máximos e à data do questionário de INR e as complicações desta terapêutica. Consideraram-se como complicações o aparecimento de fenómenos hemorrágicos e/ou tromboembólicos, no decurso da terapêutica hipocoagulante. Resultados: Foram estudados 101 doentes, 74 do sexo feminino (73,3%), com idade média de 6410 anos (21-85). A população analisada tinha 4,5 ± 3,5 anos de escolaridade, com 15% de analfabetismo. A maioria dos doentes iniciou ACO após colocação de prótese valvular mecânica (56,4%). Em cada doente existia em média 1 factor de risco para doença coronária. O número de meses de ACO era de 99,489 (1-360). Sessenta e seis doentes (65,3%) conheciam o motivo pelo qual iniciaram esta terapêutica. Cada doente tinha efectuado 1,20,6 determinações de INR por mês e tinha, em média, um tempo máximo sem verificação do mesmo de 6,210,4 semanas. Quarenta e cinco doentes sofreram alguma complicação tromboembólica e/ou hemorrágica no decurso da terapêutica ACO. Ocorreram 50 complicações hemorrágicas, em 41 doentes, das quais 7 motivaram internamento. Detectaram-se 7 episódios de tromboembolismo central ou periférico, em 7 doentes. Posteriormente, dividiu-se a população em dois grupos: grupo I – com complicações (GI) e grupo II – sem complicações (GII). GI – 45 doentes, idade média 63,59,1 anos (39-80) e GII – 56 doentes, idade média 64,711,3 anos (21-85). Nos doentes que iniciaram ACO por prótese mitral detectou-se um maior número de complicações (60,6% no GI e 39,4% no GII, p=0,024). Também nos doentes com INR máximo recomendado > 3 (55,2% no GI e 44,8% no GII, p=0,013) e nos que tinham sido sujeitos a terapêutica estomatológica (68,3% no GI e 31,7% no GII, p<0,001) se verificou um maior número de complicações. A duração da ACO foi o factor mais significativo para o aparecimento de complicações (GI – 138,196,5 meses, GII – 67,868,2 meses, p <0,00005). Na análise multivariada apenas a duração da ACO se manteve como factor preditivo independente. Conclusões: Na população existe uma percentagem importante de doentes com baixa escolaridade, que se poderá repercutir sobre a compreensão desta terapêutica específica, não tendo contudo, neste estudo, revelado influência significativa na taxa de complicações. O aparecimento de complicações durante a terapêutica anticoagulante é dependente da duração desta, do valor do INR máximo recomendado e da realização ou não de procedimentos estomatológicos, sendo o primeiro factor o mais significativo.

Origem Anómala da Artéria Coronária Esquerda a Partir da Artéria Pulmonar

OBJECTIVE: To assess the frequency and severity of the anomalous origin of the left coronary artery (ALCA) from the pulmonary artery (PA). DESIGN OF THE STUDY: Prospective study of case series between March 1991 and December 1994. SETTING: Referral-based Paediatric Cardiology Department of a Tertiary Care Center. PATIENTS AND METHODS: Five consecutive patients (pts) with anomalous origin of the LCA from the PA; there were three infants aged 4 months and two children one 8 year and one 9 year old. There were three girls and two boys. All pts had clinical and 2D-echo and Doppler investigation prior to cardiac catheterization (CC). Indication for CC was based in the association of symptoms and signs of myocarditis or dilated cardiomyopathy of acute or subacute onset and electrocardiographic (ECG) signs of ischemia in infants. In older patients (pts) diagnosis was suspected mainly from ECG. During CC in all pts, aortograms and when necessary selective coronary angiograms were performed. Surgical correction was performed in all children. In two pts stress exercise ECG and stress Thallium studies before and after surgery were performed. RESULTS: two pts had "adult" an three had "infantile" type of ALCA from the PA. CC was performed and diagnosis was confirmed at surgery in all cases. In one child, correct diagnosis was made by ECO prior to CC and in one case LCA to PA fistula was suspected on Colour-Doppler study. No complications were attributed to CC. Several types of surgery were performed: reimplantation of the ALCA from the PA to the aorta (three pts); tunnel connection of the aorta to the ALCA via the PA (one pt) and left internal mammary to LCA anastomosis (one pt). Two infants died intraoperatively due to extensive myocardial infarction and poor left ventricular function. All the three survivors are asymptomatic after a mean follow up of 34 months. Two oldest pts are currently in New York Heart Association functional class I with normal ECG and improved myocardial perfusion on Thallium scan despite almost total occlusion of LCA at the site of implantation in the aorta as diagnosed on coronary angiogram. CONCLUSIONS: ALCA from PA is associated with major morbidity and mortality. Diagnosis should be suspected in pts with unexplained myocardial ischemia on ECG and even more if it is associated to clinical signs of dilated cardiomyopathy or myocarditis. Careful assessment on ECO and pulsed Doppler and colour flow mapping should make the diagnosis in most cases. Although surgery can be performed based only on ECO diagnosis, we strongly advise for angiography in all cases as in our experience there are false negative diagnosis by ECO. Preoperative Thallium studies can be useful for the selection of the type of surgery as pts with very little viable myocardium will not survive the establishment of a direct systemic to coronary blood flow and may be candidates for heart transplantation.

Orbital Exenteration for Eyelid Skin Carcinoma

Exenteration of the orbit is a disfiguring and destructive procedure; it is generally performed for orbital malignancies and often provides a significant reconstructive challenge. Our purpose was to evaluate the clinical indications for orbital exenteration in a tertiary referral center and to assess the reconstructive options employed. A retrospective nonrandomized analysis was performed, selecting all patients undergoing orbital exenteration over a 5-year period, between January 2005 and January 2010. Patient demographics, tumor characteristics, and reconstructive techniques used were evaluated. Twenty patients with a mean age of 76.5 years underwent total orbital exenteration. Basal cell carcinoma was the main operative indication (45%), followed by squamous cell carcinoma (15%). Reconstructive techniques included cover of the raw orbital cavity with a temporal muscular flap in all cases followed with split skin grafting (25%), bilaterally pedicle V-Y advancement flap (10%) and a fasciocutaneous island flap of the retroauricular region (65%). Twenty percent of patients had local complications and all were treated in a satisfactory fashion. Eyelid skin tumors remain an important cause of orbital exenteration. Temporal muscle flap is a reliable and stable reconstructive solution after orbital exenteration and additional aid is supplied with skin grafts or local flaps. This technique ensures a good aesthetic outcome and better situation for later complementary treatments and minimal associated donor site morbidity.

Terapêutica Trombolítica no Enfarte Agudo do Miocárdio: Motivos de Inelegibilidade

STUDY OBJECTIVE: to establish the reasons of ineligibility for thrombolytic therapy (TL) in a group of patients with acute myocardial infarction (AMI). DESIGN: retrospective analysis of protocols and clinical records. SETTING: the medical intensive care unit (ICU) of a tertiary care hospital. PATIENTS AND METHODS: we studied the records from patients with AMI admitted to the ICU during a five-year period (1987-91) and excluded from TL, to determine the cause(s) of ineligibility. RESULTS: we found 1669 patients with AMI, 89 of which were excluded from the study. Of the remaining 1580 patients, 1274 (80.6%) did not receive TL. Mean age was 64.4 years; 66.4% were men. Mortality was 24.6%. Mean duration of chest pain was 19.4 hours. Chief reasons for exclusion from TL were advanced age (43.1% of patients) and delayed presentation (55.7%); one of these was present in 79.2%. CONCLUSIONS: this study confirmed the high mortality of patients with AMI who do not receive TL. Advanced age and delayed presentation were the main causes of ineligibility. As age is being abandoned as an exclusion criterion, efforts for expansion of TL should center on the earlier arrival of patients to centers where it is available.

Doentes Cirúrgicos e Politraumatizados numa Unidade de Cuidados Intensivos Médica

OBJECTIVE: to characterize and to assess in terms of severity the surgical and trauma patients admitted to a medical intensive care unit (ICU). DESIGN: retrospective study base on clinical records and the ICU computerized database. SETTING: the medical ICU of a tertiary hospital. RESULTS: of the 2468 patients admitted to the ICU in 1989, 289 (11.7%) were surgical or trauma ones. The more frequent reasons for admission were: the need for mechanical ventilation, metabolic problems, and depression of consciousness. Of these 289 patients, 48.1% required mechanical ventilation, 14.9 hemodialysis; 4.8% had a pulmonary artery catheter inserted. Mean APACHE II, TISS and MOF scores were high (20.09 +/- 9.29, 24.17 +/- 11.45 and 5.4 +/- 3.59); they were determined in 79.2, 88.2 and 43.9% of patients respectively. Both APACHE and TISS scores were correlated with mortality. When compared with medical patients, surgical/trauma ones although younger (52.9 +/- 20.7 years versus 55.9 +/- 20.2, p = 0.00152), had a longer mean stay in the ICU (7.63 +/- 12.7 days v. 3.64 +/- 7.61, p = 0.0001), and a higher mortality (also in the ICU) (28.7 v. 16.7, p = 0.0005. COMMENTS: these are seriously ill patients, who are frequently referred to the ICU in late stages of clinical evolution. We propose they should be closely followed, from the earliest possible stage, by medical-surgical teams, in order to benefit from a multidisciplinary approach.

Clinical Outcome and Morphologic Analysis after Endovascular Aneurysm Repair Using the Excluder Endograft

OBJECTIVE: Long-term follow-up after endovascular aneurysm repair (EVAR) is very scarce, and doubt remains regarding the durability of these procedures. We designed a retrospective cohort study to assess long-term clinical outcome and morphologic changes in patients with abdominal aortic aneurysms (AAAs) treated by EVAR using the Excluder endoprosthesis (W. L. Gore and Associates, Flagstaff, Ariz). METHODS: From 2000 to 2007, 179 patients underwent EVAR in a tertiary institution. Clinical data were retrieved from a prospective database. All patients treated with the Excluder endoprosthesis were included. Computed tomography angiography (CTA) scans were retrospectively analyzed preoperatively, at 30 days, and at the last follow-up using dedicated tridimensional reconstruction software. For patients with complications, all remaining CTAs were also analyzed. The primary end point was clinical success. Secondary end points were freedom from reintervention, sac growth, types I and III endoleak, migration, conversion to open repair, and AAA-related death or rupture. Neck dilatation, renal function, and overall survival were also analyzed. RESULTS: Included were 144 patients (88.2% men; mean age, 71.6 years). Aneurysms were ruptured in 4.9%. American Society of Anesthesiologists classification was III/IV in 61.8%. No patients were lost during a median follow-up of 5.0 years (interquartile range, 3.1-6.4; maximum, 11.2 years). Two patients died of medical complications ≤ 30 days after EVAR. The estimated primary clinical success rates at 5 and 10 years were 63.5% and 41.1%, and secondary clinical success rates were 78.3% and 58.3%, respectively. Sac growth was observed in 37 of 142 patients (26.1%). Cox regression showed type I endoleak during follow-up (hazard ratio, 3.74; P = .008), original design model (hazard ratio, 3.85; P = .001), and preoperative neck diameter (1.27 per mm increase, P = .006) were determinants of sac growth. Secondary interventions were required in 32 patients (22.5%). The estimated 10-year rate of AAA-related death or rupture was 2.1%. Overall life expectancy after AAA repair was 6.8 years. CONCLUSIONS: EVAR using the Excluder endoprosthesis provides a safe and lasting treatment for AAA, despite the need for maintained surveillance and secondary interventions. At up to 11 years, the risk of AAA-related death or postimplantation rupture is remarkably low. The incidences of postimplantation sac growth and secondary intervention were greatly reduced after the introduction of the low-permeability design in 2004.

Late Stillbirth: a Ten Year Cohort Study

Introduction: Late fetal death is a desolating event that inspite the effort to implement new surveillance protocols in perinatal continues to defy our clinical pratice. Objective: To examine etiological factors contributing to main causes and conditions associated with fetal death in late pregnancies over a 10-year period. Methods: Retrospective cohort analysis of 208 late singleton stillbirth delived in a tertiary-perinatal referral maternity over a 10-year period. Clinical charts, laboratory data and feto-placental pathology findings were systematically reviewed. Results: The incidence of late fetal demise was 3.5 per 1000 pregnancies. No significant trend in the incidence of stillbirth was demonstrated during the study period. Stillbirth was intrapartum in 12 (5.8%) cases and 72 (35%) were term pregnancies. Fourteen percent of cases were undersurveilled pregnancies. Mean gestacional age at diagnosis was 34 weeks. The primary cause of death was fetal, it was present in 59 cases, 25% were considered small for gestational age. Stillbirths were unexplained in 24.5% of cases. Maternal medical disorders were identified in 21%. Hypertensive disorders were frequent and associated with early gestacional age (p = 0.028). Conclusion: There was no change in the incidence of late stillbirth during the 10 years under evaluation. The incidence was 3.5 ‰ which was identical to that described in developed countries. About one quarter of the stillbirths was unexplained. The most frequent maternal pathology was chronic hypertension.