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Nowadays, children are able to enrich their reality via the Internet. Unfortunately, this may increase their risk of becoming victims of cyberbullying. We analyzed the health characteristics and risk behavior of two cohorts of children in Serbia; those who reported being exposed to cyberbullying and those who did not. The statistical differences and logistic regression models were applied to the data on 3267 students collected from 64 schools participating in the 2017 Serbian Study on health behavior in school-age children (HBSC). Children exposed to cyberbullying reported having the following health problems on a daily basis: headache (18.5%), back pain (19.5%), depression (21.6%), irritability or bad mood (17.7%), nervousness (16.0%), sleep problems (16.1%), and dizziness (21.2%). As for the different types of risk behavior, cigarette smoking ranging from six to nine days ever was the most prevalent (26.9%). It was followed closely by getting drunk more than 10 times ever (24.1%). Compared to non-victims, victims were found to be at a higher risk of perceived back pain (OR = 2.27), depression (OR = 1.43), irritability or bad mood (OR = 2.07), nervousness (OR = 2.23), and dizziness (OR = 2.43) as well as being injured once or twice (OR = 1.98) or three or more times (OR = 4.09). Victims were associated with further risk factors: having smoked more than five cigarettes ever in life (OR = 1.73) and having gotten drunk two to three times (OR = 1.71) or four or more times (OR = 1.65). As the number of school-age children using social media continues to rise, we must prioritize educating them about self-help and community resources for addressing related health issues with greater speed and intensity. The findings from Serbia suggest that while children may be aware of their health issues, they may be unaware of their link to cyberbullying, which could hinder their ability to address these issues promptly. The respondents' attention to the health implications of cyberbullying could be increased by reformulating the survey questions used in the HBSC study.
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Metabolic changes in pregnant women begin in the first weeks after conception under the influence of placental hormones that affect the metabolism of all nutrients. An increased concentration of total lipids accompanies pregnancy and an increased accumulation of triglycerides in low-density lipoproteins (LDL) particles. Lipids in small dense LDL particles are more susceptible to oxidative modification than normal-density LDL particles. Unlike LDL high-density lipoproteins (HDL), lipoprotein particles have an atheroprotective role in lipid metabolism. The very growth of the fetus depends on the nutrition of both parents, so obesity is not only in the mother but also in the father. Nutritional programming of the offspring occurs through changes in lipid metabolism and leads to an increased risk for cardiometabolic diseases. Pregnancy is accompanied by an increased need for oxygen in the mitochondria of the placenta and a tendency to develop oxidative stress. Oxidative stress represents a disturbance in the balance of oxidation-reduction processes in the body that occurs due to the excessive production of free oxygen radicals that cellular homeostatic mechanisms are unable to neutralize. When the balance with the antioxidant system is disturbed, which happens when free oxygen radicals are in high concentrations, serious damage to biological molecules occurs, resulting in a series of pathophysiological and pathological changes, including cell death. Therefore, oxidative stress plays a significant role in the pathogenesis of many complications that can occur during pregnancy. The oxidative status of pregnant women is also influenced by socioeconomic living conditions, lifestyle habits, diet, smoking, and exposure to environmental air pollution. During a healthy pregnancy, the altered lipid profile and oxidative stress create an increased risk for premature birth and pregnancy-related diseases, and a predisposition to adult diseases.
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Placenta , Complicações na Gravidez , Adulto , Humanos , Feminino , Gravidez , Espécies Reativas de Oxigênio , Lipoproteínas LDL , Lipoproteínas HDL , Triglicerídeos , Estresse Oxidativo , Radicais LivresRESUMO
The intestinal microbiota consists of trillions of bacteria, viruses, and fungi that achieve a perfect symbiosis with the host. They perform immunological, metabolic, and endocrine functions in the body. The microbiota is formed intrauterine. Dysbiosis is a microbiome disorder characterized by an imbalance in the composition of the microbiota, as well as changes in their functional and metabolic activities. The causes of dysbiosis include improper nutrition in pregnant women, hormone therapy, the use of drugs, especially antibiotics, and a lack of exposure to the mother's vaginal microbiota during natural birth. Changes in the intestinal microbiota are increasingly being identified in various diseases, starting in the early neonatal period into the adult period. Conclusions: In recent years, it has become more and more obvious that the components of the intestinal microbiota are crucial for the proper development of the immune system, and its disruption leads to disease.
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Microbioma Gastrointestinal , Microbiota , Adulto , Recém-Nascido , Feminino , Gravidez , Humanos , Disbiose/microbiologia , Sistema Imunitário/metabolismo , BactériasRESUMO
OBJECTIVE: Although there are substantial data linking thyroid autoimmunity (TAI) and infertility, data regarding assisted reproductive technology (ART) outcomes and TAI markers in follicular fluid (FF) of women undergoing ART are scarce. Objective of the study was to assess the association of the levels of thyroid autoantibodies in FF and ART outcome expressed as the achieved pregnancies. METHODS: This study enrolled 52 women undergoing ART (26 TAI positive subjects and 26 age and body mass index matched TAI negative controls). Blood samples were drawn before the initiation of protocol for controlled ovarian stimulation, and thyrotropin (TSH), free triiodothyronine (fT3), free thyroxine (fT4), thyroid peroxidase antibodies (TPOAbs) and thyroglobulin antibodies (TgAbs) levels were measured. TSH, fT4, TPOAbs, TgAbs and progesterone levels were also measured in FF. RESULTS: There were no significant differences between the groups regarding mean levels of FF TSH and FF fT4. Statistically significant correlation was discovered regarding the levels of serum and FF TPOAbs (0,961, p<0.001 in TAI positive, 0,438, p = 0.025 in TAI negative group) and TgAbs (0,945, p<0.001 in TAI positive, 0,554, p = 0.003 in TAI negative group). Pregnancies rates per initiated cycle and per embryotransfer cycle were significantly different between TAI positive and TAI negative group, (30.8% vs 61.5%), p = 0.026 and (34.8% vs 66.7%), p = 0.029, respectively. Multivariate analysis showed that TAI positive women had less chance to achieve pregnancy (p = 0.004, OR = 0.036, 95% CI 0.004-0.347). CONCLUSIONS: Higher levels of thyroid autoantibodies in FF of TAI positive women are strongly correlated with serum levels and may have effect on the post-implantation embryo development.
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Autoanticorpos/imunologia , Líquido Folicular/imunologia , Técnicas de Reprodução Assistida , Glândula Tireoide/imunologia , Tireotropina/sangue , Tiroxina/sangue , Adulto , Autoanticorpos/sangue , Estudos de Casos e Controles , Feminino , Humanos , Gravidez , Estudos Prospectivos , Técnicas de Reprodução Assistida/estatística & dados numéricos , Tri-Iodotironina/sangue , Adulto JovemRESUMO
22q11.2 microdeletion is the most common microdeletion in humans. The purpose of this study was to evaluate postoperative outcome in children with 22q11.2 microdeletion who had undergone complete surgical correction of a congenital heart defect. The study included 34 patients who underwent complete correction of conotruncal heart defects. Of these, 17 patients diagnosed with 22q11.2 microdeletion represent the investigated group. Another 17 patients without 22q11.2 microdeletion represent the control group. Investigated and control groups differ significantly for total length of stay in the hospital (average 37.35 and 14.12 days, respectively); length of postoperative stay in the intensive care unit (average 10.82 and 6.76 days, respectively); sepsis (eight and two patients, respectively); administration of antibiotics (15 and seven patients, respectively); duration of antibiotic therapy (average 17.65 and 14.59 days, respectively); occurrence of hypocalcemia (16 and 0 patients, respectively); and initiation of peroral nutrition during the postoperative course (average 10.29 and 3.88 days, respectively). No difference was found for duration of ventilatory support (average 6.12 and 4.24 days, respectively), administration of total parenteral nutrition, and postoperative mortality rate. The study results suggest that genotype of 22q11.2 microdeletion affects postoperative outcome after cardiac surgery. Possible targets for intervention in postoperative intensive care management are prevention and treatment of systemic infections, monitoring, and treatment of hypocalcemias, rational administration of antibiotics and careful planning of nutrition. Consequently, this could shorten patients' intensive care stay and overall duration of hospitalization.
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Procedimentos Cirúrgicos Cardíacos/métodos , Cromossomos Humanos Par 22/genética , Cardiopatias Congênitas/cirurgia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Pré-Escolar , Deleção Cromossômica , Cuidados Críticos/estatística & dados numéricos , Feminino , Genótipo , Cardiopatias Congênitas/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Cariótipo , Tempo de Internação/estatística & dados numéricos , Masculino , Reação em Cadeia da Polimerase Multiplex , Complicações Pós-Operatórias/genética , Período Pós-Operatório , Resultado do TratamentoRESUMO
IgE- mediated food allergy affects 6-8% of children. Our study aimed to define the correlations between the results obtained with skin prick tests (SPTs) using commercial extracts and fresh foods, and the correlations between these result and those obtained with specific IgE (sIgE) and/ or challenge. Children aged from 2 months to 6 years were recruited prospectively. Overall 571 children were positive to one food. In all children we performed SPT using commercial extracts of suspected food and fresh foods and sIgE. If SPT and sIgE test results did not correspond to the history, we performed open oral food challenge. Sensitivity of SPT with commercial extracts for all tested food was poor (3-35%), while sensitivity of fresh food skin prick tests (FFSPT) was excellent (50-100%), and showed correlation with open oral food challenge (p<0.001). Our results suggest that fresh food extracts are more effective in detecting sensitization and with levels of sIgE greater than class 3 could predict clinical reactivity, without the need for potentially hazardous food challenges.
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Alérgenos/imunologia , Hipersensibilidade Alimentar/diagnóstico , Hipersensibilidade Alimentar/imunologia , Imunoglobulina E/imunologia , Testes Cutâneos , Administração Oral , Alérgenos/administração & dosagem , Animais , Especificidade de Anticorpos/imunologia , Criança , Pré-Escolar , Feminino , Alimentos/efeitos adversos , Humanos , Imunização , Lactente , Masculino , Testes Cutâneos/métodosRESUMO
Background: Mycoplasma pneumoniae (MP) is a common cause of community-acquired pneumonia in children, and it has been associated with wheezing. The aim of this study was to examine the serum level of interleukin (IL)-4 and IL-10 in children with Mycoplasma pneumoniae pneumonia (MPP) and to analyse them in relation to the presence of wheezing. Methods: The study included 166 children with radiologically confirmed pneumonia. MP infection was confirmed by enzyme-linked immunosorbent assay (ELISA) serum MP-IgM and MP-IgG test and throat swab MP DNA with real-time polymerase chain reaction. Serum levels of IL-4 and IL-10 were measured using ELISA. Results: There was no significant difference in serum level of IL-4 between children with MPP and those with non-MPP. Among children with MPP, we found similar level of IL-4 regardless of the personal and family history of allergy and asthma or the presence of wheezing. A significantly higher level of IL-10 was found in children with MPP than in children with non-MPP (32.92±18.582 vs. 27.01±14.100 pg/ml, p =0.022). Furthermore, wheezing children with MPP had a significantly higher level of IL-10 than children with MPP without wheezing (43.75±26.644 vs. 27.50±10.211 pg/ml, p=0.027). Conclusion: Our results show significantly increased serum level of IL-10 in children with MPP, which was significantly higher in children with wheezing. These findings may suggest a role of IL-10 in the pathogenesis of MPP and in the occurrence of wheezing during acute MP infection.
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Interleucina-10/sangue , Interleucina-4/biossíntese , Mycoplasma pneumoniae/isolamento & purificação , Pneumonia por Mycoplasma/sangue , Sons Respiratórios/etiologia , Adolescente , Anticorpos Antibacterianos/sangue , Asma/complicações , Criança , Pré-Escolar , Infecções Comunitárias Adquiridas , Estudos Transversais , DNA Bacteriano , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Lactente , Masculino , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/imunologia , Pneumonia por Mycoplasma/diagnóstico , Pneumonia por Mycoplasma/imunologia , Pneumonia por Mycoplasma/microbiologia , Estudos Prospectivos , Reação em Cadeia da Polimerase em Tempo Real , Sons Respiratórios/imunologiaRESUMO
BACKGROUND: Non-immediate reactions to beta-lactam antibiotics (BL) occur more than one hour after drug administration, and the most common manifestations are maculopapular exanthemas and delayed-appearing urticaria and/or angioedema. Infections can lead to skin eruptions and mimic drug hypersensitivity reactions (DHR), if a drug is taken at the same time. The most of children are labeled as 'drug allergic' after considering only the clinical history. OBJECTIVE: To diagnose/detect a hypersensitivity or an infection which mimic DHR in children with non-immediate reactions to BL METHODS: A prospective survey was conducted in a group of 1026 children with histories of non-immediate reactions to BL by performing patch tests, skin tests, and in case of negative results, drug provocation tests (DPTs). In 300 children, a study was performed to detect infections by viruses or Mycoplasma pneumoniae. RESULTS: Urticaria and maculopapular exanthemas were the most reported non-immediate reactions. Only 76 (7.4%) of 1026 children had confirmed non-immediate hypersensitivity reactions to BL. Fifty-seven children had positive delayed-reading intradermal tests (18 of these with a positive patch test). Nineteen children had positive DPT. Sixty-six of 300 children had positive tests for viruses or Mycoplasma pneumoniae and 2 of them had a positive allergy work-up. CONCLUSIONS: A diagnostic work-up should be performed in all children with non-immediate reactions to BL, to remove a false label of hypersensitivity. Even though only 57 (5.5%) of 1026 children displayed positive responses to delayed-reading intradermal tests to BL, such tests appear to be useful in order to reduce the risk for positive DPTs.
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Exantema/diagnóstico , Hipersensibilidade Tardia/diagnóstico , Mycoplasma pneumoniae/fisiologia , Pneumonia por Mycoplasma/diagnóstico , Urticária/diagnóstico , Viroses/diagnóstico , Adolescente , Alérgenos/imunologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Testes Cutâneos , beta-Lactamas/imunologiaRESUMO
OBJECTIVE: Though the outcome for children with congenital diaphragmal hernia (CDH) is improving, management of seriously compromised respiratory and cardiovascular function remains a great challenge. The aim of this study was to review a tertiary center experience in treating children with CDH. DESIGN: Retrospective observational study from January 2005 to December 2014. SETTING: Neonatal Intensive Care Unit (NICU) of University Children Hospital (UCH), Belgrade, Serbia. PATIENTS: Children with CDH. RESULTS: The CDH was diagnosed prenatally in 23% patients. An overall survival rate was 62%. Among those patients who underwent surgical repair 29 (90%) survived. There was statistically significant difference in survival rate between operated patients and total examined population (P=0.020). Prenatally diagnosed neonates with CDH had significantly lower survival rate comparing to those who were postnatally diagnosed (20% vs. 75%; P=0.002). Fatal outcome was more frequent in patients with small birth weight comparing to those with normal birth weight (67% vs. 30%; P=0.046). CONCLUSIONS: Our center survival rate for CDH is in accordance with other reported studies. Based on our experience there are potential points for further improvement. First, further increase of prenatal detection, planning for delivery, and coordinated transfer to tertiary institution, in order to avoid transfer of near death patients. Second, preoperative management in the NICU. This could be done by more uniform implementation of current consensual guidelines in monitoring, mechanical ventilation and circulatory support of these delicate patients, together with rationale use of newer therapeutic resources.
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Hérnias Diafragmáticas Congênitas/cirurgia , Feminino , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/mortalidade , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Sérvia/epidemiologia , Taxa de Sobrevida , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP) in children. The aim of this study was to assess the prevalence of Mycoplasma pneumoniae infection in children with CAP and find clinical, radiological and laboratory features helpful to diagnose Mycoplasma pneumoniae pneumonia. Furthermore, we evaluated the value of serology, real-time PCR (RT-PCR) and culture for the accurate diagnosis of Mycoplasma pneumoniae pneumonia. METHODS: The study included 166 children aged between 1 and 15 years with radiologically confirmed pneumonia. Throat swab specimens were cultured and assessed by RT-PCR for the presence of Mycoplasma pneumoniae. Mycoplasma pneumoniae-specific IgM and IgG antibodies were determined using ELISA in paired sera. RESULTS: Mycoplasma pneumoniae pneumonia was diagnosed in 14.5% CAP cases. Cough (p=0.029), headache (p=0.001) and wheezing (p=0.036) were more frequent in children with Mycoplasma pneumoniae pneumonia compared to children with pneumonia caused by other pathogens. Logistic regression analysis showed that headache (odds ratio [OR] =36.077, p=0.001) and wheezing (OR=5.681, p=0.003) were significantly associated with MP pneumonia. Neither radiological findings, nor common laboratory parameters distinguished Mycoplasma pneumoniae infection in children with CAP. Using IgG serology in paired sera as the gold standard, we found that sensitivity of IgM serology, RT-PCR and culture was equal (81.82%), while specificity values were 100%, 98.6% and 100% respectively. We observed that combination of IgM detection in acute-phase serum and RT-PCR was positive for 91.7% of cases with Mycoplasma pneumoniae infection. CONCLUSIONS: There are no characteristic radiological findings, or routine laboratory tests that would distinguish CAP caused by Mycoplasma pneumoniae from other CAP. It was found that clinical features such as headache and wheezing are indicative for Mycoplasma pneumoniae infection. Furthermore, it was found that during the acute phase of disease, detection of IgM antibodies in combination with RT-PCR allows for precise and reliable diagnosis of Mycoplasma pneumoniae infections in children.
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Infecções Comunitárias Adquiridas/diagnóstico , Mycoplasma pneumoniae/isolamento & purificação , Pneumonia por Mycoplasma/diagnóstico , Adolescente , Anticorpos Antibacterianos/análise , Criança , Pré-Escolar , Técnicas de Laboratório Clínico , Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/microbiologia , DNA Bacteriano/análise , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Mycoplasma pneumoniae/genética , Mycoplasma pneumoniae/imunologia , Pneumonia por Mycoplasma/epidemiologia , Pneumonia por Mycoplasma/microbiologia , Prevalência , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sérvia/epidemiologiaAssuntos
Toxidermias/diagnóstico , Hipersensibilidade Tardia/diagnóstico , Infecções Respiratórias/tratamento farmacológico , Convulsões/tratamento farmacológico , Síndrome de Stevens-Johnson/diagnóstico , Corticosteroides/uso terapêutico , Alérgenos/efeitos adversos , Alérgenos/imunologia , Carbamazepina/administração & dosagem , Carbamazepina/efeitos adversos , Ceftriaxona/administração & dosagem , Ceftriaxona/efeitos adversos , Criança , Pré-Escolar , Toxidermias/terapia , Feminino , Humanos , Hipersensibilidade Tardia/etiologia , Hipersensibilidade Tardia/terapia , Ibuprofeno/administração & dosagem , Ibuprofeno/efeitos adversos , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Testes do Emplastro , Penicilina G Procaína/administração & dosagem , Penicilina G Procaína/efeitos adversos , Infecções Respiratórias/complicações , Convulsões/complicações , Síndrome de Stevens-Johnson/etiologia , Síndrome de Stevens-Johnson/terapiaRESUMO
BACKGROUND: The role of pet exposure in childhood asthma and allergy is still controversial. The aim of this study was to investigate the association between pet-keeping during different periods of childhood and asthma and sensitization in school children. METHODS: One hundred and forty-nine children aged between 7 and 14 years were enrolled in this study. Seventy-four children had current physician-diagnosed asthma, while 75 children did not have asthma. Pet-keeping was investigated by questionnaire. Allergic sensitization to pet allergen was assessed on skin prick tests and specific serum IgE concentration. Logistic regression analysis was performed, taking into account potential confounders. RESULTS: Early, past and current pet-keeping was not significantly associated with asthma. Neither owning a cat nor dog during childhood was associated with asthma. Early pet-keeping, however, was significantly associated with sensitization to pet allergens (adjusted odds ratio [aOR], 24.11; 95% confidence interval [CI]: 3.28-177.27). Further analysis showed that only early cat-keeping was significantly associated with sensitization to cat allergen (aOR, 51.59; 95%CI: 2.28-1167.07). Keeping a cat or a dog after the first year of life was not associated with sensitization to those allergens. CONCLUSIONS: Keeping a cat or a dog does not increase risk for asthma. Keeping a cat in the first year of life, however, increases risk of sensitization to cat allergen. Considering that this is a relatively small study, larger, prospective, birth cohort studies are required in Serbia to accurately assess the relationship between pet-keeping, asthma and sensitization.
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Alérgenos/imunologia , Asma/etiologia , Animais de Estimação/imunologia , Adolescente , Animais , Asma/epidemiologia , Asma/imunologia , Gatos , Criança , Cães , Feminino , Seguimentos , Humanos , Incidência , Masculino , Estudos Prospectivos , Fatores de Risco , Sérvia/epidemiologia , Testes Cutâneos , Inquéritos e QuestionáriosRESUMO
The aim of this study was to evaluate the effects of inhaled nitric oxide (iNO) therapy on oxygenation and mortality in children with acute respiratory distress syndrome (ARDS). Thirty-three children with ARDS and an arterial SatO2 <88% despite mechanical ventilation were analyzed. Patients in the iNO group were prospectively enrolled and treated with conventional therapy plus iNO. The control group consisted of retrospectively analyzed patients treated only with conventional therapy. A significant increase in PaO2/FiO2 ratio (25.6%) and decrease in oxygenation index (19.5%) was observed after 4 h of iNO treatment, when compared to baseline values. A positive response to iNO was detected in 69% of patients, and there was no difference between pulmonary and extrapulmonary ARDS. There was no difference in mortality and duration of mechanical ventilation between iNO and control group.
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Óxido Nítrico/administração & dosagem , Síndrome do Desconforto Respiratório/tratamento farmacológico , Administração por Inalação , Análise de Variância , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Oxigênio/administração & dosagem , Oxigênio/sangue , Respiração Artificial , Síndrome do Desconforto Respiratório/sangue , Estudos RetrospectivosRESUMO
Juvenile myasthenia gravis is an acquired, autoimmune disease occurring before age 16 years. Thymoma is exceedingly rare in children, especially in association with juvenile myasthenia gravis. We describe a 14-year-old boy with juvenile myasthenia gravis and thymoma. He presented with difficulties chewing and swallowing, nasal speech, and fluctuating weakness of the leg muscles. Neurologic examination revealed masticatory and bulbar muscle weakness with nasal speech, proximal muscle weakness, fatigability of the arms and legs, and distal muscle weakness of the legs. A diagnosis of juvenile myasthenia gravis was confirmed by a positive neostigmine test, a decremental response on repetitive nerve stimulation, and increased titers of serum anti-acetylcholine receptor antibodies. The patient received anticholinesterases, corticosteroids, azathioprine, and thymectomy. A pathohistologic analysis of the thymus gland indicated thymoma, Masaoka grade II. After 2 years of an unstable disease course, remission was achieved. Because only 10 cases of thymoma-associated myasthenia gravis are described in the pediatric population, this report offers an important contribution to a better understanding of this rare association.
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Miastenia Gravis/complicações , Timoma/complicações , Adolescente , Humanos , Masculino , Miastenia Gravis/diagnóstico por imagem , Timoma/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION: Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. CASE OUTLINE: A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits. A few days before delivery physicians at a regional medical centre revealed enlarged kidneys and oligohydramnios. The delivery was performed by caesarean section. The vital functions of the newborn were in critical condition so that she was referred to the University Children's Hospital in Belgrade. Soon after admission, despite all undertaken measures, the infant died. Autopsy was done at the Institute of Pathology of the Belgrade Clinical Centre. All findings were typical for autosomal recessive polycystic kidney disease. The kidneys were hugely enlarged, with cystically dilated collecting ducts that almost completely replaced the renal parenchyma. The lungs were mildly hypoplastic. The liver showed dilated portal spaces, with multiple irregularly branching bile ducts. The cause of death was respiratory distress and renal failure. CONCLUSION: In all cases of congenital anomalies of the kidney with lethal ending it is necessary to perform autopsy and aimed genetic investigation.
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Rim Policístico Autossômico Recessivo/diagnóstico , Feminino , Humanos , Recém-Nascido , Rim/patologia , Rim Policístico Autossômico Recessivo/patologiaRESUMO
Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17) with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm), dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristc skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients.