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OBJECTIVE: Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder characterized by progressive neurologic and extraneurologic findings. The aim of this retrospective, descriptive study was to explore the time of presentation and diagnosis, and to expand the phenotype and genotype of CTX, based on a nationwide and comprehensive series of patients in Turkey. METHODS: The demographic, clinical, biochemical and genotypic characteristics of the CTX patients were reviewed. Data on molecular analysis, age of onset and diagnosis, diagnostic delay, neurologic and extraneurologic symptomatology, results of plasma cholestanol levels, brain magnetic resonance imaging and electromyography at the time of diagnosis were reviewed. RESULTS: 100 confirmed CTX patients from 72 families were included. The mean age at diagnosis was 28.16 ± 14.28 years, and diagnostic delay was 18.39 ± 13.71 years. 36 patients were diagnosed in childhood. Frequency of intention tremor (p = 0.069), peripheral neuropathy (p = 0.234) and psychiatric manifestations (p = 0.396) did not differ between two groups, demonstrating the high rate in pediatric patients. Three adult patients showed a milder phenotype without neurologic involvement. Seven patients had normal plasma cholestanol levels despite neurological impairment. Sequencing of the CYP27A1 gene revealed 25 different variants, with a novel c.671_672del variant not previously described in literature. CONCLUSION: Based on the observations of this Turkish CTX cohort, it is emphasized that the true prevalence of CTX is probably underestimated and that it has a wide spectrum of clinical phenotypes even without neurological impairment. In children, abnormal cerebellar findings, peripheral neuropathy and psychiatric findings associated with intellectual disability have been suggested as warning signs to avoid diagnostic delay. In cases of clinical suspicion, molecular analysis is recommended despite normal plasma cholestanol levels, as severe neurologic involvement may occur in CTX patients without elevated cholestanol levels.
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Colestanotriol 26-Mono-Oxigenase , Colestanol , Xantomatose Cerebrotendinosa , Humanos , Xantomatose Cerebrotendinosa/genética , Xantomatose Cerebrotendinosa/sangue , Xantomatose Cerebrotendinosa/diagnóstico , Masculino , Feminino , Adulto , Turquia/epidemiologia , Adolescente , Criança , Colestanotriol 26-Mono-Oxigenase/genética , Adulto Jovem , Pessoa de Meia-Idade , Colestanol/sangue , Estudos Retrospectivos , Pré-Escolar , Imageamento por Ressonância Magnética , Fenótipo , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Mutação , Genótipo , Idade de InícioRESUMO
PURPOSE: The present research was undertaken to investigate the effect of yoga on pulmonary function and early clinical outcomes in patients scheduled for bariatric surgery. MATERIALS AND METHODS: This research with a randomized control group was performed on patients scheduled for bariatric surgery between October 2021 and June 2022 in the General Surgery Clinic of a University Hospital in Eastern Turkey. The sample consists of 100 randomized patients who received yoga breathing exercises and routine care. Pulmonary function test (PFT), posteroanterior chest X-rays (CXR), 6-min walk test, and oxygen saturation (SpO2) were applied as a pretest. The researcher practiced yoga for 40 min every day of the week. Post-test measurements were performed at the end of the yoga practice. Control group patients underwent the tests at the same intervals without any modifications to the standard clinical protocol. RESULTS: The difference between the control and experimental groups was significant in terms of post-test PFT measurements (p < 0.001). In the CXR of the patients, a statistically significant improvement was determined in 61.5% of the patients with yoga breathing practice (p < 0.001). Also, there was a significant increase in the 6-min walk test and SpO2 values in the experimental group (p < 0.05). CONCLUSION: Yoga practice positively affected the pulmonary function values of the patients.
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Cirurgia Bariátrica , Obesidade Mórbida , Yoga , Humanos , Obesidade Mórbida/cirurgia , Pulmão/diagnóstico por imagem , Exercícios Respiratórios/métodosRESUMO
INTRODUCTION: Short hemato-oncologic procedures are often painful in children, and sedation should be performed outside the operating room. AIM: : The study aims to compare the effects of remifentanil with those of fentanyl administered during short hemato-oncologic interventions in children. MATERIALS AND METHODS: A prospective, randomized study was planned for 29 ASA I to III children (aged, 2 to 18 y) to undergo a total of 60 short oncologic interventions. The patients were placed into 2 groups: propofol-remifentanil (group PR) and propofol-fentanyl (group PF). Group PR was first administered propofol (2 mg/kg) and then remifentanil bolus (0.5 µg/kg). Group PF was first administered propofol (2 mg/kg) and then fentanyl bolus (0.5 µg/kg). Systolic arterial pressure, diastolic arterial pressure, mean arterial pressure, respiratory rate, peripheral oxygen saturation, and heart rate were recorded every 3 minutes during the intervention and every 5 minutes after the operation. Postanesthetic recovery scores, eye-opening time to speech, and recovery time were recorded. RESULTS: Comparison of diastolic arterial pressure in groups at minute 3 of the procedure showed significant difference (P<0.05). Eye-opening to speech (P=0.043) and recovery times (P=0.002) were shorter in group PR. CONCLUSIONS: During short hemato-oncologic interventions in children, the PR combination is a suitable one for early recovery.
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Analgésicos Opioides/administração & dosagem , Sedação Consciente , Fentanila/administração & dosagem , Neoplasias Hematológicas/diagnóstico , Hipnóticos e Sedativos/administração & dosagem , Piperidinas/administração & dosagem , Propofol/administração & dosagem , Adolescente , Pressão Sanguínea/efeitos dos fármacos , Criança , Pré-Escolar , Feminino , Fentanila/efeitos adversos , Frequência Cardíaca/efeitos dos fármacos , Humanos , Masculino , Piperidinas/efeitos adversos , Propofol/efeitos adversos , Estudos Prospectivos , Remifentanil , Respiração/efeitos dos fármacosRESUMO
OBJECTIVES: DNAJC12 deficiency (OMIM# 617384) is a new cause of hyperphenylalaninemia (HPA). The deficiency of the co-chaperone protein DNAJC12 was identified in 2017. To date, only 43 patients have been reported. Here, we report four patients from a single family with DNAJC12 deficiency while being followed up with a diagnosis of HPA. CASE PRESENTATION: Two of the patients, who were cousins, were diagnosed with HPA by newborn screening. And the other two patients were siblings of these patients. Neurological examinations were normal except for one patient with mild learning disability. A c.158-2A>T p.(?) biallelic pathogenic variant was detected in intron 2 of the DNAJC12 gene. In the 24 h tetrahydrobiopterin (BH4) challenge test, there was a significant decrease in phenylalanine levels, especially at the 16th hour. Three patients had decreased homovalinic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in cerebrospinal fluid (CSF), while only one had decreased 5HIAA. In treatment, sapropterin, levodopa/carbidopa and 5-OH tryptophan were started. CONCLUSIONS: We propose that it will be beneficial to evaluate the patients who have unexplained hyperphenylalaninemia for DNAJC12 deficiency. Patients with early diagnosis of neurotransmitter deficiency may be given a chance to be treated before clinical symptoms begin.
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Fenilcetonúrias , Humanos , Recém-Nascido , Biopterinas , Triagem Neonatal , Fenilcetonúrias/complicações , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/genéticaRESUMO
BACKGROUND: The Psychosocial Assessment of Candidates for Transplantation (PACT) scale shows a statistically acceptable level of reliability and validity and can guide clinicians in managing transplant candidates. This study aims to adapt PACT scale to Turkish and evaluate its validity and reliability for Turkish transplant candidates. METHODS: This was a psychometric study of a sample of 162 patients in the organ transplant services of 2 hospitals in Turkey. The number of patients enrolled in the study was 20 times the number of items on the scale. The research data were collected using PACT. Descriptive statistics, Cronbach's alpha reliability coefficient, Pearson correlation, and factor analysis were used to evaluate the data. RESULTS: The data were analyzed using varimax rotation in principal component analysis. The factor loadings of the items ranged from 0.56 to 0.79. The internal reliability coefficient of the scale is 0.87. It was also found that the scale accounted for the 52.82% of the total variance. CONCLUSION: According to the results of this study, evidence of the validity and reliability of the PACT was obtained.
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Inquéritos e Questionários , Humanos , Turquia , Reprodutibilidade dos Testes , Psicometria , Análise FatorialRESUMO
OBJECTIVES: Transient infantile hypertriglyceridemia (HTGTI) is caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. HTGTI is characterized by hypertriglyceridemia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Here, we reported first Turkish HTGTI patient with a novel mutation of GPD1, having hypertriglyceridemia, hepatomegaly, growth retardation and hepatic steatosis. He is the first case who needs transfusion until 6th month in GPD1. CASE PRESENTATION: A 2-month-27-day-old boy, who had growth retardation, hepatomegaly and anemia suffered to our hospital with vomiting. Triglyceride level was 1603â¯mg/dL (n<150). Liver transaminases were elevated and hepatic steatosis was developed. He needed transfusion with erythrocyte suspension until 6th month. Etiology could not be elucidated by clinical and biochemical parameters. A novel homozygous c.936_940del (p.His312GlnfsTer24) variant was detected in the GPD1 gene by Clinical Exome Analysis. CONCLUSIONS: GPD1 deficiency should be investigated in the presence of unexplained hypertriglyceridemia and hepatic steatosis in children especially in infants.
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Fígado Gorduroso , Hipertrigliceridemia , Humanos , Lactente , Masculino , Glicerolfosfato Desidrogenase/genética , Transtornos do Crescimento , Hepatomegalia/genética , Hipertrigliceridemia/complicações , Hipertrigliceridemia/genética , MutaçãoRESUMO
Background: Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic heterogeneity. Clinical components are predominantly associated with pathogenic variants shown in nuclear or mitochondrial genomes that affect vital respiratory chain function. The development of high-throughput sequencing technologies has accelerated the elucidation of the genetic etiology of many genetic diseases that previously remained undiagnosed. Methods: Thirty affected patients from 24 unrelated families with clinical, radiological, biochemical, and histopathological evaluations considered for mitochondrial diseases were investigated. DNA isolated from the peripheral blood samples of probands was sequenced for nuclear exome and mitochondrial DNA (mtDNA) analyses. MtDNA sequencing was also performed from the muscle biopsy material in one patient. For segregation, Sanger sequencing is performed for pathogenic alterations in five other affected family members and healthy parents. Results: Exome sequencing revealed 14 different pathogenic variants in nine genes encoding mitochondrial function peptides (AARS2, EARS2, ECHS1, FBXL4, MICOS13, NDUFAF6, OXCT1, POLG, and TK2) in 12 patients from nine families and four variants in genes encoding important for muscle structure (CAPN3, DYSF, and TCAP) in six patients from four families. Three probands carried pathogenic mtDNA variations in two genes (MT-ATP6 and MT-TL1). Nine variants in five genes are reported for the first time with disease association: (AARS2: c.277C>T/p.(R93*), c.845C>G/p.(S282C); EARS2: c.319C>T/p.(R107C), c.1283delC/p.(P428Lfs*); ECHS1: c.161G>A/p.(R54His); c.202G>A/p.(E68Lys); NDUFAF6: c.479delA/p.(N162Ifs*27); and OXCT1: c.1370C>T/p.(T457I), c.1173-139G>T/p.(?). Conclusion: Bi-genomic DNA sequencing clarified genetic etiology in 67% (16/24) of the families. Diagnostic utility by mtDNA sequencing in 13% (3/24) and exome sequencing in 54% (13/24) of the families prioritized searching for nuclear genome pathologies for the first-tier test. Weakness and muscle wasting observed in 17% (4/24) of the families underlined that limb-girdle muscular dystrophy, similar to mitochondrial myopathy, is an essential point for differential diagnosis. The correct diagnosis is crucial for comprehensive genetic counseling of families. Also, it contributes to making treatment-helpful referrals, such as ensuring early access to medication for patients with mutations in the TK2 gene.
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BACKGROUND: There are few reports from developing countries on the factors that influence the time to diagnosis (TD) in childhood cancer. The purpose of this study was to investigate the determinants of the TD in Turkish cancer patients. PROCEDURE: A retrospective analysis was performed on 329 children diagnosed with cancer, excluding leukemia. The TD, including parent/patient time and physician time, was defined as the interval between the onset of symptoms and the final diagnosis. RESULTS: The median times for parent/patient, physician, and TD were 3, 28, and 53 days, respectively. For patient in the 1-9 years age group, physician time and TD were significantly shorter than in infants and those over 10 years. The longest median TD was recorded for children with germ cell tumors and retinoblastoma; the shortest was in children with renal tumors. When the first point of contact was a pediatrician, a private hospital or physician's office, a governmental educational hospital or a university hospital physician time was short. The longest TD was noted in patients who first contacted a non-pediatric specialist. The most significant predictors of parent/patient, physician time, and TD were metastases at diagnosis, first medical center, and first health professional contacted, respectively. CONCLUSIONS: The TD for childhood lymphomas and solid tumors was related to patient age, tumor type and location, the presence of distance metastases, first health professional, and center contacted. All physicians, especially other specialists seeing pediatric patients, need to be further sensitized to the signs and symptoms of childhood cancer.
Assuntos
Diagnóstico , Linfoma/diagnóstico , Neoplasias/diagnóstico , Adolescente , Fatores Etários , Criança , Pré-Escolar , Diagnóstico Tardio/estatística & dados numéricos , Países em Desenvolvimento , Feminino , Humanos , Recém-Nascido , Linfoma/classificação , Masculino , Metástase Neoplásica , Neoplasias/classificação , Estudos Retrospectivos , Fatores de Tempo , Turquia , Adulto JovemRESUMO
INTRODUCTION: Cisplatin (CDDP) is an effective and widely used chemotherapeutic agent for pediatric tumors, and ototoxicity is one of the dose-limiting side effects. OBJECTIVE: It was the aim of our study to investigate the effect of acetyl L-carnitine (ALCAR) on experimental CDDP ototoxicity by audiologic tests, histomorphologic, immunohistochemical and ultrastructural examinations and to investigate the apoptotic pathways. MATERIALS AND METHODS: Wistar albino rats (n = 28) were studied. Baseline audiological tests were performed in 4 groups: group 1, control; group 2, ALCAR; group 3, CDDP; group 4, CDDP + ALCAR-administered rats. Control audiological tests were performed on the 3rd day, and then the rats were sacrificed. Ear and brain specimens were examined by transmission electron microscopy, and caspase 3, 8 and 9 activities were investigated. RESULTS: The CDDP-administered rats showed significant auditory brainstem response threshold shifts using all stimuli (clicks, 6-kHz and 8-kHz tone burst) compared with the control groups. The CDDP + ALCAR-administered rats showed significant auditory brainstem response threshold shifts by only click stimuli compared with the control groups. In the brain, spiral ganglion and organ of Corti, ultrastructural damage was prominent in group 3; the number of TUNEL (terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling)-positive cells and caspase 3, 8 and 9 immunostaining cells was significantly high in group 3. CONCLUSION: ALCAR improves CDDP-induced auditory impairment, and also antioxidative and antiapoptotic properties of ALCAR on CDDP ototoxicity were supported by the findings.
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Acetilcarnitina/administração & dosagem , Antineoplásicos/efeitos adversos , Cisplatino/efeitos adversos , Complexo Vitamínico B/administração & dosagem , Animais , Encéfalo/patologia , Caspase 3/metabolismo , Caspase 8/metabolismo , Caspase 9/metabolismo , Orelha Média/efeitos dos fármacos , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Feminino , Células Ciliadas Auditivas/patologia , Células Ciliadas Auditivas/ultraestrutura , Transtornos da Audição/induzido quimicamente , Órgão Espiral/patologia , Ratos , Ratos WistarRESUMO
BACKGROUND/AIM: This study aims to determine the importance of the "Ethics and Deontology in Nursing" course in nursing education for the purpose of revealing the level of moral sensitivity of nursing students. MATERIALS AND METHODS: In our research, which is a descriptive study, data were collected from 461 nursing students who studied at the Faculty of Health Sciences. In the study, the Personal Information Form and Moral Sensitivity Questionnaire (MSQ) were used as data collection forms. The findings from the study were evaluated with SPSS 22.00 package software, and the level of significance in all analyses was accepted as p < 0.05. RESULTS: The average age of the students participating in the study was 20.83 ± 1.55. Also, 51.8% of the students took the course "Ethics and Deontology in Nursing." The total mean score of the MSQ of students was determined as 83.32 ± 16.79. A statistically significant difference was found between the students' total scores of autonomy, benefit, holistic approach, conflict, practice, orientation, and moral sensitivity, depending on whether they took the course "Ethics and Deontology in Nursing." CONCLUSION: It was concluded that moral sensitivity in nursing students was positively influenced by the ethical education they received.
Assuntos
Educação em Enfermagem , Ética em Enfermagem , Estudantes de Enfermagem , Humanos , Princípios Morais , Inquéritos e Questionários , Adulto JovemRESUMO
The most widely used platinum-derived drug is cisplatin in neuroblastoma (NB) chemotherapy, which is severely neurotoxic. Acetyl-L-Carnitine (ALC) is a natural occurring compound with a neuroprotective activity in several experimental paradigms. The aim of this study was to determine the effects of ALC on cisplatin induced cytotoxicity and oxidative stress in NB cells. SH-SY5Y (N-Myc negative) and KELLY (N-Myc positive) human NB cell lines were used. Cisplatin induced apoptosis was assessed by using a Cell Death Detection ELISA(PLUS) kit. Lipid peroxidation levels were determined by HPLC analysis. Glutathione levels were determined spectrophotometrically. ALC was used prophylactic or after cisplatin application. The level of cisplatin doses were determined in both type of NB cells at which 50% cell death occurred along with synchronized apoptosis induced. Prophylactic 10 and 50 micromol of ALC concentrations were decreased cisplatin induced lipid peroxidation compared to controls that normally exhibited apoptosis especially in SH-SY5Y cells. Cisplatin caused oxidative stress through decreasing glutathione levels in both cell types. ALC were effectively inhibited the increase in cisplatin induced oxidized glutathione and lipid peroxidation formation in NB cells. We suggested that prophylactic ALC would be a useful agent for cisplatin induced toxicity in NB cells.
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Acetilcarnitina/farmacologia , Antineoplásicos/toxicidade , Neoplasias Encefálicas/metabolismo , Cisplatino/antagonistas & inibidores , Cisplatino/toxicidade , Neuroblastoma/metabolismo , Fármacos Neuroprotetores , Nootrópicos/farmacologia , Estresse Oxidativo/efeitos dos fármacos , Apoptose/efeitos dos fármacos , Neoplasias Encefálicas/patologia , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Corantes , Ensaio de Imunoadsorção Enzimática , Glutationa/metabolismo , Humanos , L-Lactato Desidrogenase/metabolismo , Peroxidação de Lipídeos/efeitos dos fármacos , Neuroblastoma/patologia , Proteínas Proto-Oncogênicas c-myc/metabolismo , Sais de Tetrazólio , TiazóisRESUMO
BACKGROUND: Atypical teratoid/rhabdoid tumor (ATsRT) is a rare tumor and extremely aggressive embryonal neoplasm of the central nervous system. Brain tumors in infant are suggestive of some oncogenic prenatal factors. CASE PRESENTATION: We report on a case of ATRT in a 4-month-old infant conceived by in vitro fertilization (IVF). Some previous reports have raised a question about the possible relation between IVF and childhood cancer, particularly embryonal tumors. CONCLUSION: Report of such cases may provide some evidence to identify if there is a real association between congenital tumors and IVF.
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Neoplasias Encefálicas/patologia , Doenças em Gêmeos/patologia , Fertilização in vitro , Tumor Rabdoide/patologia , Teratoma/patologia , Encéfalo/patologia , Encéfalo/cirurgia , Neoplasias Encefálicas/etiologia , Neoplasias Encefálicas/terapia , Doenças em Gêmeos/etiologia , Doenças em Gêmeos/terapia , Evolução Fatal , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Tumor Rabdoide/etiologia , Tumor Rabdoide/terapia , Teratoma/etiologia , Teratoma/terapia , GêmeosRESUMO
Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. The main clinical manifestations are infantile progressive nephrotic syndrome (NS) leading to end-stage renal disease and sensorineural deafness. A 7-year-old girl was diagnosed with steroid-resistant NS (SRNS) and an audiological work-up revealed bilateral sensorineural deafness. A renal biopsy demonstrated focal segmental glomerulosclerosis. Despite immunosuppressive therapy, her serum levels of creatinine increased and haemodialysis was indicated within 1 year after the diagnosis. Living-donor kidney transplantation was performed in the eighth month of haemodialysis. A diagnostic custom-designed panel-gene test including 30 genes for NS revealed homozygous c.1058Câ¯>â¯A [rs397514479] in exon nine of COQ6. Her older brother, who had sensorineural hearing loss with no renal or neurological involvement, had the same mutation in homozygous form. COQ6 mutations should be considered not only in patients with SRNS with sensorineural hearing loss but also in patients with isolated sensorineural hearing loss with a family history of NS. The reported p.His174 variant of COQ8B was suggested to be a risk factor for secondary CoQ deficiency, while p.Arg174 appeared to improve the condition in a yeast model. Family segregation and the co-occurrence of biallelic p.Arg174 of COQ8B in a brother with hearing loss implied that the interaction of the altered COQ8B with the mutant COQ6 alleviated the symptoms in this family. CoQ10 replacement therapy should be initiated for these patients, as primary CoQ10 deficiency is considered the only known treatable mitochondrial disease.
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Ataxia/genética , Falência Renal Crônica/genética , Rim/metabolismo , Doenças Mitocondriais/genética , Debilidade Muscular/genética , Ubiquinona/deficiência , Ataxia/patologia , Criança , Feminino , Homozigoto , Humanos , Rim/patologia , Falência Renal Crônica/patologia , Masculino , Doenças Mitocondriais/patologia , Debilidade Muscular/patologia , Mutação/genética , Síndrome Nefrótica/genética , Síndrome Nefrótica/patologia , Fenótipo , Irmãos , Ubiquinona/análogos & derivados , Ubiquinona/genéticaRESUMO
Although methotrexate is an agent widely used in the practice of pediatric oncology, allergic reactions to methotrexate are most unusual. Most of these reactions typically occur after repeated administration. Here, we report a severe anaphylactoid reaction to the first dose of high-dose methotrexate infusion in a child with osteosarcoma who has also experienced a delayed excretion of methotrexate. Clinicians must be aware of the possibility of a systemic, near-fatal anaphylactic reactions with methotrexate and patients who experience severe anaphylactic reactions should be followed carefully because of the possibility of delayed methotrexate excretion.
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Anafilaxia/induzido quimicamente , Antimetabólitos Antineoplásicos/efeitos adversos , Neoplasias Ósseas/tratamento farmacológico , Metotrexato/efeitos adversos , Osteossarcoma/tratamento farmacológico , Adolescente , Antimetabólitos Antineoplásicos/farmacocinética , Antimetabólitos Antineoplásicos/urina , Feminino , Humanos , Metotrexato/farmacocinética , Metotrexato/urina , Índice de Gravidade de DoençaRESUMO
BACKGROUND/AIMS: To evaluate the protective effects of acetyl L-carnitine (ALCAR) on cisplatin-induced nephrotoxicity in rats, and to gain insights into the possible protective mechanisms of ALCAR against nephrotoxicity. METHODS: Twenty-eight Wistar rats were divided into four groups. Group 1 was administered saline only, group 2 was administered ALCAR, group 3 was administered cisplatin, and group 4 was administered ALCAR prior to cisplatin. Rats were sacrificed after 72 h of cisplatin/saline infusion. Serum creatinine and glomerular filtration rate values were obtained, and kidney samples were examined by light and electron microscopy. Apoptotic cell death and caspase-3, 8 and 9 activities were studied immunohistochemically. RESULTS: In group 4, ALCAR administration resulted in an improvement in kidney function tests. Histopathological findings confirmed the biochemical data. Whilst the fusion of the foot processes of podocytes was observed in group 3, they were intact in group 4 on electron-microscopic examination. Apoptotic cell death and caspase-3, 8 and 9 activities were also decreased in group 4 compared to group 3. CONCLUSIONS: Antioxidative, antiapoptotic and anti-inflammatory properties of ALCAR were supported by the findings that this agent improves kidney function tests and has the effects of tissue protection and inhibition of apoptosis in cisplatin-induced nephrotoxicity.
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Acetilcarnitina/farmacologia , Antineoplásicos/toxicidade , Cisplatino/toxicidade , Nefropatias/prevenção & controle , Animais , Apoptose/efeitos dos fármacos , Caspase 3/efeitos dos fármacos , Caspase 3/metabolismo , Caspase 8/efeitos dos fármacos , Caspase 8/metabolismo , Caspase 9/efeitos dos fármacos , Caspase 9/metabolismo , Creatinina/sangue , Feminino , Taxa de Filtração Glomerular , Nefropatias/induzido quimicamente , Testes de Função Renal , Microscopia Eletrônica , Ratos , Ratos Wistar , Complexo Vitamínico B/farmacologiaRESUMO
Chronic recurrent multifocal osteomyelitis is an unusual inflammatory process of unknown origin involving multiple osseous sites, often recurrently. Selective immunoglobulin M (IgM) deficiency is a rare primary immunodeficiency disease, which can be associated with autoimmune diseases such as systemic lupus erythematosus, Hashimoto's disease, or hemolytic anemia. Here we report a case of a chronic recurrent multifocal osteomyelitis coexisting with selective IgM deficiency.
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Doenças Autoimunes/imunologia , Osso e Ossos/imunologia , Imunoglobulina M/deficiência , Osteomielite/imunologia , Anti-Inflamatórios não Esteroides/uso terapêutico , Antirreumáticos/uso terapêutico , Artralgia/imunologia , Artralgia/fisiopatologia , Doenças Autoimunes/sangue , Doenças Autoimunes/fisiopatologia , Biomarcadores/análise , Biomarcadores/sangue , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Quimiotaxia de Leucócito/imunologia , Criança , Doença Crônica/tratamento farmacológico , Fêmur/patologia , Humanos , Imunoglobulina M/sangue , Linfócitos/patologia , Imageamento por Ressonância Magnética , Masculino , Osteomielite/sangue , Osteomielite/fisiopatologia , Pelve/patologia , Plasmócitos/patologia , Cintilografia , Recidiva , Coluna Vertebral/patologia , Sulfassalazina/uso terapêutico , Resultado do TratamentoRESUMO
PURPOSE: To evaluate the clinical features and treatment results of the primary paravertebral malignant tumors (PMTs) in our department. METHODS: Medical records of 28 children with primary PMTs treated between 1988-2007 were analyzed retrospectively. RESULTS: Primary PMTs constituted 4.8% of the cancer cases in our department. Tumor diagnoses were mostly neuroblastoma (46.4%) and soft tissue sarcomas (35.7%). These cases presented with pain (64.3%), motor dysfunction (42.8%), sphincter dysfunction (35.7%), palpable mass (32.1%), and sensory deficits (7.1%). All tumors were extradural. Physical examination revealed motor deficits (53.6%), deep tendon reflex alterations (53.6%), sphincter dysfunction (35.7%), pathologic reflexes (25%), abnormal cutaneous reflexes (25%), and sensory deficits (17.8%). Sixteen had cord compression (CC; 13 clinical, three radiological CC). Eleven of them presented with advanced disease. Seven were managed by surgical departments by primary surgery (three unresponsive). Others were managed by pediatric oncology: five with corticosteroids+/-chemotherapy (one unresponsive), one with radiotherapy (RT), and two with surgery for the clinical CC. Surgery was tumor excision in nine, laminectomy in nine, laminotomy in one, and delayed surgery after chemotherapy in two cases. In chemotherapy and surgery groups, there were neurologic sequela associated with the advanced disease at diagnosis in 38% and 37%, respectively. At 3-year median follow-up, nine patients died, 17 are alive (four with neurologic sequela), and two are lost of follow-up. CONCLUSION: Majority of cases presented with advanced disease. Late referral is the major cause of morbidity and mortality. The CC caused by PMTs should be initially managed with corticosteroids +/- chemotherapy to avoid the adverse late effects of RT and surgery.
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Neuroblastoma/terapia , Neoplasias da Medula Espinal/terapia , Neoplasias da Coluna Vertebral/terapia , Adolescente , Criança , Pré-Escolar , Terapia Combinada , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Lactente , Masculino , Recuperação de Função Fisiológica/fisiologia , Estudos Retrospectivos , Sarcoma/terapia , Resultado do TratamentoRESUMO
We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country.
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Anormalidades Congênitas/epidemiologia , Linfoma/complicações , Neoplasias/complicações , Adolescente , Idade de Início , Criança , Pré-Escolar , Anormalidades Congênitas/classificação , Consanguinidade , Feminino , Humanos , Incidência , Lactente , Classificação Internacional de Doenças , Masculino , Idade Materna , Prontuários Médicos , Estudos Retrospectivos , Fatores de Risco , Turquia/epidemiologia , Adulto JovemRESUMO
Aneurysmal bone cyst is a rare benign tumor of the bone that can be difficult to distinguish from malignant tumors, especially when it presents in an unusual location. Herein, we report a six-year-old girl with a primary aneurysmal bone cyst in an uncommon location. It originated from the 4th rib and she presented with a huge chest wall mass. Despite the large size of the cyst, the only symptom was persistent cough. She was successfully treated with total excision of tumor without any complication. The patient has been followed up for 56 months without any recurrence.
Assuntos
Cistos Ósseos Aneurismáticos/diagnóstico , Costelas , Parede Torácica/patologia , Cistos Ósseos Aneurismáticos/complicações , Cistos Ósseos Aneurismáticos/diagnóstico por imagem , Cistos Ósseos Aneurismáticos/cirurgia , Criança , Tosse/etiologia , Feminino , Humanos , Costelas/diagnóstico por imagem , Costelas/cirurgia , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To report a case of chronic recurrent multifocal osteomyelitis (CRMO) with conjunctival involvement. METHODS: Retrospective chart review. RESULTS: A 10-year-old girl who complained of fatigue and debilitating pain in both hips and legs for >1 year had recurrent episodes of redness and discharge in both eyes with little response to different topical medications. The diagnosis of CRMO was confirmed with the help of magnetic resonance imaging, bone scan, and bone biopsy results. She had moderate hyperemia and multiple discrete salmon-colored lesions in both palpebral and fornical conjunctivae. Biopsy revealed chronic inflammatory infiltration composed predominantly of lymphocytes forming a follicular pattern. Conjunctival lesions worsened during relapses of skeletal symptoms, improved during remission, and resolved shortly after the initiation of oral prednisolone therapy. No recurrence was observed during 16 months of follow-up. CONCLUSIONS: Salmon-colored conjunctival lesions may accompany CRMO and respond favorably to systemic steroid therapy.