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.

Candidemia in Acute Leukemia Patients

Fungal infections are an important cause of morbidity and mortality in patients with acute leukemia (AL). Candidemia, once rare, is now a common nosocomial infection because of the intensity of chemotherapy, prolonged neutropenia, administration of broad-spectrum antibiotics and use of central venous catheters (CVC). We retrospectively identified patients treated for AL from 6/86 to 6/95 who also had candidemia. We describe 28 patients (incidence 6.3%) with a median age of 39 years, 24 of whom were on remission induction and 4 on postremission chemotherapy. All patients had CVC and empiric antimicrobial therapy, 4 had been given prophylactic antifungal drugs, and 2 had parenteral nutrition. Neutropenia was profound (median leukocyte nadir 200/microliters, median duration 19 days). Candida was isolated in blood cultures 10 days (median) after the start of neutropenia. The clinical presentation included fever (100%), respiratory symptoms (71.4%), skin lesions (39.2%) and septic shock (17.8%). Amphotericin B was given to 17 patients and liposomal amphotericin to 5 patients. Infection resolved in 18 patients (64.2%). 10 of whom were in complete remission. Mortality from candidemia was 17.8% (5/28). In conclusion, fungal infections are responsible for death in a significant number of patients. In our series treatment success was related to its rapid onset and to the recovery of neutropenia.

Results of Surgery for Ebstein Anomaly: a Multicenter Study from the European Congenital Heart Surgeons Association

OBJECTIVE: Since most centers' experience with Ebstein anomaly is limited, we sought to analyze the collective experience of participating institutions of the European Congenital Heart Surgeons Association with surgery for this rare malformation. METHODS: The records of all 150 patients (median age 6.4 years) who underwent surgery for Ebstein anomaly in the 13 participating Association centers between January 1992 and January 2005 were reviewed retrospectively. Patients with congenitally corrected transposition were excluded. RESULTS: Most patients (81%) had Ebstein disease type B or C and significant functional impairment (61% in New York Heart Association class III or IV) and 16% had prior operations. Surgical procedures (n = 179) included valve replacement (n = 60, 33.5%), valve repair (n = 49, 27.3%), 1(1/2) ventricle repair (n = 46, 25.6%), palliative shunt (n = 13, 7.26%), and other complex procedures (n = 11, 6.14%). There were 20 hospital deaths (operative mortality 13.3%) after valve replacement in 5 patients, valve repair in 3, 1(1/2) ventricle repair in 7, palliative procedures in 3, and miscellaneous procedures in 2. Younger age and palliative procedures were univariate risk factors for operative death, but only age was an independent predictor on multivariable analysis. CONCLUSIONS: Most patients coming to surgery presented in childhood and were significantly symptomatic. More than half underwent valve replacement or repair, but a considerable proportion had severe disease necessitating 1(1/2) ventricle repair or palliative procedures. Operative mortality did not differ significantly among repair, replacement, and 1(1/2) ventricle repair but was associated with palliative procedures for severe disease early in life, young age being the only independent predictor of operative death.

Clinical and epidemiological analysis of patients with HIV/AIDS admitted to a reference hospital in the northeast region of Brazil

The AIDS epidemic has become a worldwide phenomenon of enormous magnitude and extension, deeply transforming medical practices and public health initiatives. This retrospective survey aimed to analyze clinical and epidemiological characteristics of patients with HIV/AIDS admitted to the Institute of Tropical Diseases Natan Portella, Teresina, Piauí, Brazil, from January, 2001 through December, 2004. Of the 828 patients, 43% were from other states and 71.3% were men. Average patient age was 35.4 ± 11.5 years-old and 85.5% were illiterate or had primary education. The main form of exposure to HIV was heterosexual behavior (54.1%), while injectable drug use was confirmed by only 2.7% of registered cases. The most frequent infectious complications were candidiasis (42.4%) and pneumocystosis (22.2%). Sixty-eight cases (8.2%) of visceral leishmaniasis were registered. Using multivariate analysis, individuals aged over 40 years-old, patients with active tuberculosis, Pneumocystis carinii pneumonia and central nervous system cryptococcosis showed increased risk of death. In this study, young male adults with low educational levels predominated and the most frequent opportunistic infections were candidiasis and pneumocystosis.

Tradução com adaptação cultural para portugês e determinação da reprodutibilidade do questionnaire on respiratory symptoms in preschool children

RESUMO: Introdução: A asma brônquica é uma entidade frequente em idade pediátrica, apresentando uma grande heterogeneidade clínica e significativa morbilidade quando não controlada. A identificação de crianças sintomáticas pode atrasar ou até mesmo diminuir a ocorrência de algumas alterações estruturais. Reconhece-se a necessidade de questionários sobre sintomas respiratórios em língua portuguesa, devidamente validados, que tenham como população-alvo os grupos etários inferiores a 3 anos. Deste modo, será possível não só um conhecimento mais rigoroso da asma e da sibilância infantil mas também a uniformização de metodologias para o desenvolvimento de estratégias a nível nacional. Objetivos: Tradução com adaptação cultural para português e determinação da reprodutibilidade do Questionnaire on respiratory symptoms in preschool children de Strippoli e colaboradores. Material e métodos: A escolha do questionário obedeceu a vários critérios, entre os quais o grupo etário, o tipo e número de perguntas. O Questionnaire on respiratory symptoms in preschool children de Strippoli e colaboradores é um questionário de autopreenchimento, dirigido a crianças entre os 12 e os 24 meses de idade e destinado a estudos epidemiológicos ao nível da comunidade. Aborda aspetos referentes a sintomas respiratórios (sibilância, tosse crónica, sintomas das vias aéreas superiores), cuidados médicos, terapêutica, características ambientais, história familiar e situação social. Procedemos à sua tradução, com especial atenção para a adaptação do ponto de vista cultural e linguístico, utilizando o método da tradução / retroversão, amplamente utilizado e descrito na literatura internacional. Seguidamente determinámos a reprodutibilidade da versão final em língua portuguesa – Questionário de sintomas respiratórios em idade pré-escolar – utilizando o teste-reteste. Para tal, incluíram-se crianças entre os 12 e os 36 meses de idade recrutadas num Centro de Saúde e em creches de Lisboa. A distribuição dos questionários decorreu em duas fases: na primeira fase foram entregues pessoalmente nos locais de recrutamento e na segunda fase foram enviados por correio para os domicílios das crianças, respeitando-se um intervalo mínimo de 2 semanas entre ambos. Resultados: Na primeira fase foram distribuídos 180 questionários, com uma taxa de reposta de 41% (n=74). Na segunda fase enviaram-se para os respetivos domicílios 70 questionários,obtendo-se uma taxa de resposta de 66% (n=46). Para a análise de reprodutibilidade foram incluídos apenas os questionários preenchidos em ambos os momentos pelo mesmo indivíduo (mãe, pai ou representante legal) (n=41). A idade média das crianças foi, na primeira fase, de 22,5 meses e, na segunda fase, de 23,7 meses, com um predomínio do sexo feminino (F:M =1:0,6). A mediana do tempo decorrido entre os dois momentos de preenchimento dos questionários foi de 26 dias. Obtivemos valores de concordância globalmente bons a muito bons, à semelhança do sucedido no trabalho original. Conclusões: Procedemos à tradução e avaliação da reprodutibilidade do Questionnaire on respiratory symptoms in preschool children. Pretende-se que venha a ser uma ferramenta útil para estudos epidemiológicos e programas de rastreio na comunidade, contribuindo deste modo para uma otimização da abordagem da asma / sibilância infantil a nível nacional. -------------ABSTRACT: Background: Asthma is a very common feature in childhood, with important clinical heterogeneity and morbidity if not properly controlled. Identifying symptomatic children may delay or even reduce several structural changes. The development of questionnaires on respiratory symptoms in Portuguese for children under 3 years old will allow not only a more accurate knowledge of infantile asthma and recurrent wheezing but also the standardization of methodologies to develop nationwide strategies. Objectives: The aim of this study was to translate and adapt to the Portuguese culture and to determine the repeatability of the Questionnaire on respiratory symptoms in preschool children by Strippoli et al. Material and methods: The choice of the questionnaire took in consideration several criteria, among which the target age, the type and the number of questions. The Questionnaire on respiratory symptoms in preschool children by Strippoli et al is a parent-completed questionnaire for assessment of respiratory symptoms in 1 to 2-year-old children, developed for cross-sectional and longitudinal studies. It contains sections on respiratory symptoms (wheezing, chronic cough and upper airways symptoms), healthcare utilization, treatment, environmental exposure, family history and social situation. For the process of translation we used the method of translation and back-translation, with particular concern to cultural and linguistic adaptation. To assess the repeatability of the final Portuguese version - Questionário de sintomas respiratórios em idade pré-escolar - we used the test–retest analyses. The questionnaires were distributed to parents of children between 12 and 36 months old attending nurseries and a Primary Care Center of Lisbon. The distribution took place in two phases: the first questionnaires were delivered in person (phase one) and an identical questionnaire was posted to the families that participated in the first phase, 2 weeks after the first one was returned (phase two). Results: The response rates were 41% (180/74) in the first phase and 66% (70/46) in the second phase. For test–retest analyses, we included the 41 children with the same respondent (mother, father or legal representative) in both occasions. The median age of the children was 22,5 months at the first phase and 23,7 months at the second phase, with a predominance of girls (F:M = 1:0,6). The median time between the fillings of both questionnaires was 26 days. Globally, agreement values were good to excellent, similarly to the original work. Conclusion: In the present study we translated the Questionnaire on respiratory symptoms in preschool children and assessed its repeatability. Overall, we expect it to be a valuable tool for epidemiological studies and community-based screening programs, thus contributing to improve the management of infantile asthma / recurrent wheezing nationwide.

Infantile Cystinosis

Infantile cystinosis is a rare disorder which leftuntreated results in end -stage renal disease early in life. Together with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, endstage renal disease used to be the leading cause of death in children with cystinosis. Specific therapy with cysteamine (cystine -depleting agent) has changed the course of this disease. Instead of being fatal in childhood, it can nowadays be considered a multisystemic adult disorder. The authors report a case of a child diagnosed with Fanconi syndrome at 14 months of age and infantile cystinosis at 19 months of age in whom oral cysteamine treatment led to a good outcome during childhood.

Prospective Risk of Intrauterine Death of Monochorionic-Diamniotic Twins

OBJECTIVE: The purpose of this study was to calculate the prospective risk of fetal death in monochorionic-diamniotic twins. STUDY DESIGN: We evaluated 193 monochorionic diamniotic twin pregnancies that were followed and delivered after 24 weeks. Surveillance included cardiotocography and sonography performed at least once weekly. The prospective risk of fetal death was calculated as the total number of deaths at the beginning of the gestational period divided by the number of continuing pregnancies at or beyond that period. RESULTS: The fetal death rate was 5 of 193 pregnancies (2.6%; 95% CI, 1.1, 5.9); the prospective risk of stillbirth per pregnancy after 32 weeks of gestation was 1.2% (95% CI, 0.3% - 4.2%). CONCLUSION: Under intensive surveillance, the prospective risk of fetal death in monochorionic-diamniotic pregnancies after 32 weeks of gestation is much lower than reported and does not support a policy of elective preterm delivery.

Morphological changes in the digestive system of 93 human immunodeficiency virus positive patients: an autopsy study

Involvement of the digestive system in patients with acquired immunodeficiency syndrome (AIDS) is frequent and many changes in these patients are diagnosed only at autopsy. There are few studies of autopsy with detailed analysis of this system and only one was conducted in Brazil. We evaluated each segment of the digestive system in 93 consecutive autopsies of patients infected with human immunodeficiency virus (HIV) and the importance of these lesions to death. Of these, 90 (96.8%) patients had AIDS. We reviewed medical records, autopsy reports and histological sections from tongue to rectum stained with hematoxylin-eosin. When necessary, we analyzed special stains and immunohistochemistry to investigate infections. There was damage to the digestive system in 73 (78.5%) cases. The most common infections were candidiasis (42%), cytomegalovirus (29%), histoplasmosis (11.8%), toxoplasmosis (9.7%) and mycobacterial infection (9.7%). Malignancies were rare, present in four (4.3%) cases (two Kaposi's sarcoma, one adenocarcinoma and one metastatic embryonal carcinoma). All segments showed lesions: tongue (48.6%), esophagus (44.8%), stomach (44.7%), colon (43.2%) and small intestine (28.9%). The lesions found were immediate cause of death in five (5.4%) cases. In another 36 (38.7%) cases the basic disease was systemic and also compromised the digestive system.

Apoptotic-like activity of staurosporine in axenic cultures of Trypanosoma evansi

Trypanosoma evansi is a blood protozoan parasite of the genus Trypanosoma which is responsible for surra (Trypanosomosis) in domestic and wild animals. This study addressed apoptotic-like features in Trypanosoma evansi in vitro. The mechanism of parasite death was investigated using staurosporine as an inducing agent. We evaluated its effects through several cytoplasmic features of apoptosis, including cell shrinkage, phosphatidylserine exposure, maintenance of plasma membrane integrity, and mitochondrial trans-membrane potential. For access to these features we have used the flow cytometry and fluorescence microscopy with cultures in the stationary phase and adjusted to a density of 10(6) cells/mL. The apoptotic effect of staurosporine in T. evansi was evaluated at 20 nM final concentration. There was an increase of phosphatidylserine exposure, whereas mitochondrial potential was decreased. Moreover, no evidence of cell permeability increasing with staurosporine was observed in this study, suggesting the absence of a necrotic process. Additional studies are needed to elucidate the possible pathways associated with this form of cell death in this hemoparasite.

The role of microRNAs in amyotrophic lateral sclerosis

Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina

RENAL HISTOPATHOLOGICAL FINDINGS IN DOGS WITH VISCERAL LEISHMANIASIS

Visceral leishmaniasis affects various organs including the kidneys; which can lead to renal failure and death. In order to verify this renal involvement, material was evaluated from 100 dogs naturally infected and with serological diagnosis of canine visceral leishmaniasis (CVL). Inflammatory changes were present in 25.3% of the tubules, in 67.0% of interstitium and in 52.0% of glomeruli. There was no significant difference (p > 0.05) between the presence of glomerulonephritis in symptomatic and oligosymptomatic dogs. The membranous and membranoproliferative glomerulonephritis were the most frequent, both with 18.0% frequency, followed by focal segmental glomerulosclerosis with 14.0%. Changes such as cylindruria, tubular and fibrosis hypertrophy, periglomerular inflammatory infiltrate, and multifocal and diffuse peritubular inflammatory infiltrate were observed. The findings are consistent with those of other authors indicating that renal involvement is common in CVL and the standards of membranous and membranoploriferative glomerulonephritis, as well as the tubulointerstitial involvement, are frequent.

Epidemiology of Asthma in Schoolchildren in Portuguese Speaking Regions

Asthma in schoolchildren became a priority both for developing and developed countries. Two large multi-centre epidemiological studies(Portuguese Study of Allergic Diseases in Childhood and the International Study of Asthma and Allergies in Childhood) were implemented in the last decade. One of the main objectives was to compare prevalence of asthma and evaluate cultural, ethnic and environmental variables in schoolchildren of different continents. These studies can contribute to a global strategy (with national specificity’s) including self management programs in the control of asthma to reduce the morbidity and mortality, and promote better quality of life with better allocation of resources.

Epidemiology of Asthma and Allergic Diseases in Portuguese Speaking Regions

The application of the same epidemiological methods in different countries allows important comparisons between different races and cultures. During the last decade, two large multi-centres epidemiological studies, the Portuguese Study of Allergic Diseases in Childhood (PAC study) and the International Study of Asthma and Allergies in Childhood (ISAAC study), were implemented in Portuguese speaking regions. The main objectives were to assess and compare allergic diseases prevalence. The authors stress out the significant differences observed in schoolchildren from the three continents, with different genetic and environmental background. It was found an increase trend in the prevalence of all allergic diseases, mainly rhinitis, in last decade. Rhinitis has been identified as an independent risk factor for asthma in Caucasian population.

Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.

Food Allergy and Anaphylaxis in Infants and Preschool-Age Children

Food allergy (FA) prevalence data in infants and preschool-age children are sparse, and proposed risk factors lack confirmation. In this study, 19 children’s day care centers (DCC) from 2 main Portuguese cities were selected after stratification and cluster analysis. An ISAAC’s (International Study of Asthma and Allergies in Childhood) derived health questionnaire was applied to a sample of children attending DCCs. Outcomes were FA parental report and anaphylaxis. Logistic regression was used to explore potential risk factors for reported FA. From the 2228 distributed questionnaires, 1217 were included in the analysis (54.6%). Children’s median age was 3.5 years, and 10.8% were described as ever having had FA. Current FA was reported in 5.7%. Three (0.2%) reports compatible with anaphylaxis were identified. Reported parental history of FA, personal history of atopic dermatitis, and preterm birth increased the odds for reported current FA. A high prevalence of parental-perceived FA in preschool-age children was identified. Risk factor identification may enhance better prevention.