RESUMO
INTRODUCTION: Subtotal or total splenectomy are recommended in severe and should be considered in intermediate forms of hereditary spherocytosis (HS). Data on laparoscopic subtotal splenectomy (LSTS) in HS patients are sparse. METHODS: Thirty three patients with HS (median age 10.7 years (yrs), range 1.8-15.5) underwent LSTS. Baseline and follow-up investigation included haematological parameters, microscopic analysis of pitted erythrocytes (pitE), and B-cell subpopulations assessed by flow cytometry. Results were compared to those of non-splenectomised HS patients, HS patients after total splenectomy (TS), and healthy individuals. RESULTS: After LSTS, haemoglobin levels were normalised in all patients. During median long-term follow-up of 3.9 yrs (range 1.1-14.9), only four patients presented mild anaemia. Despite re-growing of the remnant spleen none of the patients required a second surgical intervention. As compared to TS, PitE in LSTS patients were significantly lower and indicated normal to only moderately decreased spleen function. Relative but not absolute IgM memory B-cell counts were reduced in both LSTS and TS patients. CONCLUSIONS: LSTS is effective for the treatment of patients with HS. A small remnant spleen is sufficient to provide adequate phagocytic function and to induce a pool of IgM memory B-cells.
Assuntos
Laparoscopia , Esferocitose Hereditária , Humanos , Criança , Esplenectomia/efeitos adversos , Esplenectomia/métodos , Baço , Esferocitose Hereditária/cirurgia , Laparoscopia/métodos , Imunoglobulina MRESUMO
BACKGROUND: An Oesophageal atresia (OA) affects almost 1 in 3500 newborn and its aetiology for development between 4th to 6th pregnancy weeks had not yet been clarified. METHODS: This retrospective, observational control group-supported (n = 30) examination was performed with OA mothers (n = 20) who were interrogated via specialized questionnaires and interviews to evaluate data on medical pregnancy history including hormonal treatment, changing of life habits (nutrition, diet, medication), drug consumption (alcohol, smoking, illicit drugs) as well as exposure to nuclear waste or poisonous substance exposition. Aim was to assess risk factors during pregnancy and in particular in the first trimester. RESULTS: The body mass index (BMI) prior pregnancy of OA mothers was significant lower (p = 0.022) and the number of mothers with obesity (BMI>30) did not differ to control group mothers (p = 0.081). They had additionally more pre-existing illnesses (p = 0.009) and allergies (p = 0.001). Control group mothers changed dietary habits with higher meat (p = 0.032) and caffeine intake (p = 0.012) compared to OA mothers, which had higher rates of abnormalities during pregnancy (p < 0.001) and 38.7% of them suffered of ≥1 abortion in the past. The ethnical background of OA mothers was more often German (p < 0.033), while OA fathers had a lower socioeconomic status (p = 0.039). CONCLUSION: Maternal factors like previous abortions, obesity and immunological predispositions like existence of allergies combined with increased daily dairy consumption influenced obviously the occurrence of OA.
Assuntos
Atresia Esofágica , Feminino , Humanos , Recém-Nascido , Gravidez , Atresia Esofágica/epidemiologia , Atresia Esofágica/etiologia , Obesidade/complicações , Obesidade/epidemiologia , Pais , Estudos Retrospectivos , Fatores de RiscoRESUMO
The growth of adipose tissue and its vasculature are tightly associated. Angiogenic factors have been linked to obesity, yet little is known about their expression during early childhood. To identify associations of angiogenic factors with characteristics on individual and tissue level, subcutaneous white adipose tissue samples were taken from 45 children aged 0-9 years undergoing elective surgery. We measured the expression of vascular endothelial growth factor A (VEFGA), fibroblast growth factor 1 and 2 (FGF1, FGF2), angiopoietin 1 and 2 (ANGPT1, ANGPT2), TEK receptor tyrosine kinase (TEK), and von Willebrand factor (VWF). In addition, we determined the mean adipocyte size in histologic tissue sections. We found positive correlations of age with FGF1 and FGF2 and a negative correlation with ANGPT2, with pronounced differences in the first two years of life. FGF1, FGF2, and ANGPT1 correlated positively with adipocyte size. Furthermore, we identified a correlation of ANGPT1 and TEK with body mass index-standard deviation score (BMI-SDS), a measure to define childhood obesity. Except for ANGPT2, all angiogenic factors correlated positively with the endothelial marker VWF. In sum, our findings suggest that differences related to BMI-SDS begin early in childhood, and the analyzed angiogenic factors possess distinct roles in adipose tissue biology.
Assuntos
Tecido Adiposo Branco/citologia , Tecido Adiposo Branco/metabolismo , Proteínas Angiogênicas/metabolismo , Angiopoietina-1/metabolismo , Angiopoietina-2/metabolismo , Índice de Massa Corporal , Tamanho Celular , Criança , Pré-Escolar , Feminino , Fator 1 de Crescimento de Fibroblastos/metabolismo , Fator 2 de Crescimento de Fibroblastos/metabolismo , Humanos , Lactente , Recém-Nascido , Masculino , Receptor TIE-2/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo , Fator de von Willebrand/metabolismoRESUMO
BACKGROUND: Evaluation of quality of life (QoL) in paediatric surgical patients has not always received enough attention in the past. Our aim was to follow up patients with abdominal wall defects for a decade and (1) to analyse children's view on QoL and to analyse parent's view on QoL, (2) to evaluate satisfaction and psychological problems, (3) to assess present complaints including subjective aspects such as food intake, reduced appetite, pain in scar area and general abdominal pain and (4) verifiable clinical symptoms assessed through a physical examination and ultrasound. It was hypothesised that QoL would differ from gastroschisis (GS) and omphalocele (OC) children depending on the type of abdominal wall defect. MATERIALS AND METHODS: A retrospective case-control design was used to compare children with GS ( n = 36) and OC ( n = 18). A clinical examination, including abdominal inspection, palpation and auscultation of bowel sounds with abdominal ultrasound, was offered, combined with a structured interview and specific QoL questionnaire (KINDL ® ). The focus was on QoL, child development, present complaints and satisfaction with the cosmetic outcome. RESULTS: During clinical examinations with ultrasound, GS children were significantly more likely to have bowel loops stuck at the scar area ( P = 0.008) with bowel malrotation and abnormal appendix position, compared to OC children ( P = 0.037). They were significantly more likely to report irregular stools ( P = 0.02) but were satisfied with the cosmetic outcome of the abdominal skin scar in 81% of cases. The KINDL ® evaluation showed in the dimensions of QoL, namely 'body awareness', 'mental health', 'self-esteem', 'family', 'friends' and 'school', that there were no significant differences to healthy children. OC/GS parents were satisfied with their children's physical development and QoL, noting no limitations in normal daily activities. Parents of OC children reported suffering from OC/GS-associated problems ( P = 0.028) at the time point of interview. CONCLUSION: Subjective QoL did not differ significantly between OC and GS children. The satisfaction with the cosmetic outcome of the abdominal skin scar was good. On ultrasound examination, adherent bowel loops and bowel malrotation with resulting stool irregularities affect GS children. OC children's parents reported suffering from OC/OS-associated problems, and all parents need to be educated about the symptoms of recurrent sub-ileus events or atypical appendicitis.
Assuntos
Gastrosquise , Hérnia Umbilical , Qualidade de Vida , Humanos , Gastrosquise/cirurgia , Estudos Retrospectivos , Masculino , Feminino , Pré-Escolar , Criança , Estudos de Casos e Controles , Inquéritos e Questionários , Seguimentos , Satisfação do Paciente , LactenteRESUMO
In this report, we describe the successful resuscitation of a 4-year-old child who suffered a traumatic cardiac arrest during a routine procedure in the operating room. The diagnosis of a sanguineous pericardial tamponade was made by emergency ultrasonography. Consecutive subxiphoid pericardiocentesis with an adult Shaldon catheter led to return of spontaneous circulation. Subsequent thoracotomy and surgical suturing definitively stopped the bleeding from the right ventricle. The combined expertise of all perioperative disciplines was decisive for the patient's survival.
RESUMO
BACKGROUND: Gastroschisis (GS) and omphalocele (OC) are congenital abdominal wall defects, the main difference between is the direct exposure of intestinal loops in amniotic fluid in children with a GS. This leads to a reduced primary closure rate and a higher number of intraoperative abnormalities and post-operative complications. AIMS AND OBJECTIVES: We analysed abdominal wall defect patients over an 11-year period, aiming to assess the influence of meconium-contaminated amniotic fluid. This study has different objectives to show the consequence of functional outcome of abdominal wall defects (AWD) children in reliance to colour of amniotic fluid, to assess the effect of reduced bowel exposure time to meconium contaminated amniotic fluid on edematous inflammatory thickening of the bowel loops, to show an positively influence in the number of primary AWD closures, to demonstrate a reduced incidence of post-natal complications and to verify a better outcome of OC children because of failing exposure to amniotic fluid. METHODS: A retrospective, observational case-control design was used to compare GS (n = 36) and OC (n = 18) children. Physical data, colour of amniotic fluid, pre- and perinatal problems, operative complications and surgical technique, post-operative complications, duration of intensive care unit (ICU) stay, mechanical ventilation, parenteral nutrition, commencement of oral feeding and total hospital stay were collected. Data were analysed with descriptive methods, t-test and non-parametric tests such as Wilcoxon and Kruskal-Wallis were performed in addition to the analysis of variance, including post hoc testing accepting a confidence interval of 95% (P < 0.05) by using IBM SPSS software, version 23 (IBM, Illinois, USA). RESULTS: Rate of meconium-contaminated amniotic fluid is significantly higher in GS compared to OC (P < 0.001), delivery problems such as congenital infections are also significantly higher (P < 0.001), this yields in significantly more bowel loops anomalies and problems during surgery (P < 0.036) but had no significant influence on primary abdominal wall closures rate (P = 0.523). The post-surgical outcome of OC was significantly better as compared to GS. Within the GS, those with swollen intestines had significantly longer ICU stays (P = 0.045) due to extended mechanical ventilation (P = 0.007), parenteral nutrition (P = 0.011) and delayed initiation of oral feeding (P < 0.001. Same results were found for the duration of ICU stay (P = 0.008), mechanical ventilation (P = 0.006), parenteral nutrition (P = 0.011) and delayed initiation of oral feeding (P < 0.001) in secondary closures as compared to primary abdominal wall closures in the GS group. CONCLUSIONS: Worsen functional short-term outcome of GS children was directly addicted to meconium contamination of amniotic fluid due to swollen intestines and because of this more post-surgical problem including significantly extended hospital stays were observed.
Assuntos
Parede Abdominal , Parede Abdominal/cirurgia , Líquido Amniótico , Criança , Feminino , Humanos , Recém-Nascido , Intestinos , Mecônio , Gravidez , Estudos RetrospectivosRESUMO
BACKGROUND: Incidences of anorectal malformations (ARM) occur in 1 of 2000-5000 live births and up to 64% have associated malformations (ARMa). The aim of the study was to evaluate possible prenatal risk factors for ARM in a tertiary hospital. METHODS: A case-control design was used to compare risk factors in ARM (n = 44) to a control group (CG; n = 26). We used modified prenatal questionnaires, analyzed mothers' prenatal records and participants completed a structured interview. Endpoints were medical history, drug consumption, occupational risk factors, and time point of diagnosis, associated malformations and sensitivity of radiological imaging. RESULTS: Our results showed that ARM couples had a significantly higher age difference (p = 0.028) compared to CG. ARM mothers had more abnormalities during pregnancy (p = 0.002), more positive vaginal smears of group B streptococci (p = 0.024), urogenital infections (p = 0.005), gestosis (p = 0.03), emesis (p = 0.025) and higher numbers of chronic diseases (p = 0.018). ARM mothers took less medication during pregnancy (p = 0.013) than CG mothers including folic acid (p = 0.041); their intake of iodine tablets was significantly higher (p = 0.035) and they continued smoking for longer (p = 0.036) than CG mothers, and they had more stillbirths (p = 0.035). In using illegal drug and alcohol use, the groups did not show significant differences. ARMa was present in 68.1% (n = 30), of which 45.5% were of urogenital origin (n = 20). ARM diagnosis was made on the first day of life in 72.7% (n = 32), while diagnosis was delayed in 12 patients (27.3%). CONCLUSION: A combination of different risk factors seem to be associated with the development of ARM, which takes place at an early stage (<7th week) of pregnancy. Therefore, risk factors influencing fetal development must be critically considered. We advocate an interdisciplinary assessment in unclear clinical findings on first day of life to optimize the therapy and positively influence the outcome.
Assuntos
Malformações Anorretais/etiologia , Malformações Anorretais/diagnóstico , Malformações Anorretais/epidemiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Exposição Materna/efeitos adversos , Gravidez , Estudos Retrospectivos , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO(2), and low PaO(2) during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes associated with autonomic diseases such as Hirschsprung disease (HSCR). Since genomic rearrangements in particularly sensitive areas of the RET protooncogene and/or associated genes may account for the CCHS/HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR-associated genes (ZEB2, EDN3 and GDNF) in CCHS/HSCR patients by using Multiplex Ligation-dependent Probe Amplification (MLPA). We have screened 27 CCHS and 11 CCHS/HSCR patients for genomic rearrangements in RET, ZEB2, EDN3 and GDNF and did not identify any deletion or amplification in these four genes in all patients. We conclude that genomic rearrangements in RET are rare and were not responsible for the CCHS/HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether given the size of the cohort.
Assuntos
Endotelina-3/genética , Fator Neurotrófico Derivado de Linhagem de Célula Glial/genética , Proteínas de Homeodomínio/genética , Hipoventilação/genética , Mutação , Proteínas Proto-Oncogênicas c-ret/genética , Proteínas Repressoras/genética , Apneia do Sono Tipo Central/genética , Doença de Hirschsprung/genética , Humanos , Técnicas de Amplificação de Ácido Nucleico , Homeobox 2 de Ligação a E-box com Dedos de ZincoRESUMO
In the last decades, the prevalence of gastroschisis (GS) has increased worldwide. The purpose of this study was to identify maternal risk factors explaining the described gain and to identify differences between GS and omphalocele (OC). A case-control design was used to compare GS (n = 36) and OC (n = 18) mothers to control group (CG; n = 30) matched for maternal age. Specialized questionnaires and mothers' prenatal records were used, and participants completed a structured interview. Focus was on medical history, changing nutrition, drug consumption, and external risk factors. The local ethics committee approved this study. GS mothers were significantly younger (mean 23.00; median 24; SD ±5) than OC (P = 0.007; mean 28.61; median 28, 19-41; SD ±5.1) and CG (P = 0.001; mean 30.77; median 31, SD ±6.2). Mothers with abdominal wall defects (AWD) ingested antibiotics more often (P = 0.008) than CG. Socioeconomic characteristics, for example, level of profession, of GS mothers was significantly lower than OC (P = 0.039) and CG (P = 0.05) mothers, and their cohabitation time was shorter (P < 0.05; mean 35 month/median 24 month, SD ±35.8). Incidence of OC significantly increased after hormonal treatment (P = 0.022) and invasive prenatal diagnostics (P < 0.05) compared to GS. GS mothers took folic acid prophylaxis less often than OC (P = 0.02). Smoking, illicit drugs, and external risks like herbicides showed no influence, but GS mothers drink significantly more often alcohol (P = 0.05). We confirmed an increased risk for GS if several factors such as young maternal age, short cohabitation time, and usage of antibiotics coincide with alcohol consumption and associated immune diseases. OC increased after hormonal treatment and invasive prenatal diagnostics.
RESUMO
BACKGROUND: While incorrect length of a fibular fracture reduction can be measured by plain radiographs, accurate imaging of rotational deformities requires computed tomography (CT). Operative correction of fibular malrotation has not been accurately measured. The aim of this study was to evaluate the accuracy of operative correction of fibular malrotation. MATERIALS AND METHODS: Six pairs of formalin-fixed, lower leg cadaver specimens had shortening with additional internal or external rotation induced by segmental fibular resection and plate fixation. The deformity was measured by CT. Two experienced surgeons performed standardized corrective operations on six specimens each. The postoperative results were measured by CT. RESULTS: The mean overall accuracy for correction of malrotation was 1.58 degrees (SD = 0.8 degrees). There were no significant differences between the two surgeons performing the corrections. CONCLUSION: The accuracy of operative correction of malrotation in this cadaver model is in accordance with the requirements reported in clinical studies. CLINICAL RELEVANCE: Considering the error margin for CT analysis, correction within 5 to 10 degrees seems practical.
Assuntos
Fíbula/lesões , Fixação Interna de Fraturas , Fraturas Ósseas/cirurgia , Fraturas Mal-Unidas/diagnóstico por imagem , Fraturas Mal-Unidas/cirurgia , Osteotomia , Placas Ósseas , Cadáver , Fraturas Ósseas/diagnóstico por imagem , Fraturas Ósseas/patologia , Fraturas Mal-Unidas/patologia , Humanos , Reprodutibilidade dos Testes , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
Neuroblastomas (NBs) are frequent solid tumors in childhood for which no specific genetic marker linked to their development has been identified to date. PHOX2b, which regulates the autonomic neuron development, has been associated with the development of autonomic diseases, and has been considered a potential candidate gene for neural crest-derived tumors such as NB. To ascertain the role of the PHOX2b gene in NB development, we have sequenced the complete PHOX2b coding region in tumors from 69 patients with sporadic NB, while 130 blood donors served as negative controls and 9 NB cell lines as positive controls. We found a missense deletion in exon 3 in a cell line. A further silent mutation in exon 3 (c.870C>A) was observed in 3 tumors but in none of the controls. A new polymorphism in intron 1 (IVS1-114 G>A) was observed in 31 tumor samples (44.9%) and in 68 controls (52.3%). We did not find any conclusive association of the polymorphisms or mutations in PHOX2b with the development of NB, although the large confidence intervals neither substantiate nor exclude a role for this gene in the tumor etiology.
Assuntos
Proteínas de Homeodomínio/genética , Mutação , Neuroblastoma/genética , Polimorfismo Genético , Fatores de Transcrição/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Análise de Sequência de DNARESUMO
Disorders of sex development (DSD) affect the development of chromosomal, gonadal and/or anatomical sex. We analyzed a patient with ambiguous genitalia aiming to correlate the genetic findings with the phenotype. Blood and tissue samples from a male patient with penoscrotal hypospadias were analyzed by immunohistochemistry, karyotyping and FISH. DNA was sequenced for the AR, SRY and DHH genes, and further 26 loci in different sex chromosomes were analyzed by MLPA. The gonosomal origin was evaluated by simple tandem repeat (STR) analysis and SNP array. Histopathology revealed a streak gonad, a fallopian tube and a rudimentary uterus, positive for placental alkaline phosphatase, cytokeratin-7 and c-kit, and negative for estrogen, androgen and progesterone receptors, alpha-inhibin, alpha-1-fetoprotein, ß-hCG, and oct-4. Karyotyping showed a 45,X/46,XY mosaicism, yet FISH showed both 46,XX/46,XY mosaicism (gonad and urethral plate), 46,XX (uterus and tube) and 46,XY karyotypes (rudimentary testicular tissue). DNA sequencing revealed intact sequences in SOX9, WNT4, NR0B1, NR5A1, CYP21A2, SRY, AR, and DHH. STR analysis showed only one maternal allele for all X chromosome markers (uniparental isodisomy, UPD), with a weaker SRY signal and a 4:1 ratio in the X:Y signal. Our findings suggest that the observed complex DSD phenotype is the result of somatic gonosomal mosaicism and UPD despite a normal blood karyotype. The presence of UPD warrants adequate genetic counseling for the family and frequent, lifelong, preventive follow-up controls in the patient.
Assuntos
Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Transtornos do Desenvolvimento Sexual/genética , Mosaicismo , Dissomia Uniparental/genética , Cistoscopia , Transtornos do Desenvolvimento Sexual/cirurgia , Humanos , Hibridização in Situ Fluorescente , Repetições de Microssatélites/genética , Polimorfismo de Nucleotídeo Único/genética , Cuidados Pré-OperatóriosRESUMO
Percutaneous vertebroplasty (PV) is a minimally invasive procedure used to treat focal pain from compressive vertebral fracture. The PV is indicated for the treatment of debilitating vertebral pain from osteoporotic vertebral fractures, metastatic disease (osteolytic), myeloma and hemagioma. We analyzed the results of PV at 18 vertebrae of 11 patients. In 90.9% there war significant pain relief. The return to their usual activities at the first month occurred at 77.8% of the patients. According to the literature review and our study, PV is a promising therapy for selected cases.
Assuntos
Fraturas Espontâneas/cirurgia , Procedimentos Ortopédicos/métodos , Osteoporose/complicações , Compressão da Medula Espinal/cirurgia , Fraturas da Coluna Vertebral/cirurgia , Adolescente , Idoso , Idoso de 80 Anos ou mais , Feminino , Fraturas Espontâneas/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Dor/etiologia , Dor/cirurgia , Radiografia , Estudos Retrospectivos , Neoplasias da Coluna Vertebral/cirurgia , Coluna Vertebral/diagnóstico por imagemRESUMO
Transforaminal lumbar interbody fusion (TLIF) is a relatively new technique of lumbar arthrodesis via posterior transforaminal approach to the disc, indicated mainly in cases of degenerative disc disease, low grade spondylolisthesis and reoperation for disc herniation, specially when there is indication for interbody fusion and posterior decompression. The main advantage of TLIF is that it allows the complete removal of the intervertebral disc through the vertebral foramen, decompression of the spinal canal and vertebral foramen with minimum risk of neural lesion, due to the access being lateral to the nerve roots. In this study, we describe the first 24 cases of TLIF that we have done, which shows to be very safe and efficient in our series, with an relief of pain in 83.3% of patients, great improvements in the life quality in 75% of cases and satisfaction with the surgery in 79.1% of patients.
Assuntos
Doenças da Coluna Vertebral/cirurgia , Fusão Vertebral/métodos , Adulto , Feminino , Humanos , Deslocamento do Disco Intervertebral/cirurgia , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Espondilolistese/cirurgia , Resultado do TratamentoAssuntos
Doença de Hirschsprung/genética , Proteínas de Homeodomínio/genética , Hipoventilação/genética , Proteínas Proto-Oncogênicas c-ret/genética , Fatores de Transcrição/genética , Estudos de Coortes , Feminino , Mutação da Fase de Leitura , Frequência do Gene , Genótipo , Mutação em Linhagem Germinativa , Doença de Hirschsprung/complicações , Humanos , Hipoventilação/complicações , Masculino , Polimorfismo Genético , Análise de Sequência de DNA , SíndromeAssuntos
Articulação Atlantoaxial , Instabilidade Articular/etiologia , Osso Occipital/anormalidades , Doenças da Medula Espinal/etiologia , Humanos , Instabilidade Articular/diagnóstico , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças da Medula Espinal/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Infantile hypertrophic pyloric stenosis (IHPS) is a common childhood pathology affecting 1 to 5:1000 newborns, with a genetic background suggested by familial occurrence. Neuronal nitric oxide synthase (NOS1) is a candidate gene owing to its role in the relaxation of smooth musculature and the association of the -84g>a variant of NOS1 with IHPS. METHODS: We investigated NOS1 through sequencing of the complete NOS1 coding region in DNA from 43 patients with IHPS compared the genotype frequencies to 47 controls using the Cochran-Armitage trend or Fisher exact tests. RESULTS: We found 19 polymorphisms in the coding region of NOS1. The variants c.3827-42_3827-43 del_insTA and c.+276 c>t were more frequent in IHPS with statistically significant exact P values (P = .010 and P = .039, respectively) yet failed to show significance after Bonferroni adjustment for multiple testing. We have also found a marginally significant occurrence of the variants c.-460A (P = .065) and c.2823+15G (P = .076). There was a significant correlation between the variants c.2706C>T ⬠c.2823+15A>G, (r(2) = 1.00) and c.3258 C>T ⬠c.3235+31A>G (r(2) = 1.00). CONCLUSIONS: We conclude that NOS1 variants are present in patients with IHPS yet show no significant statistical association with the IHPS phenotype, suggesting at best an adjuvant role for NOS1 in IHPS.
Assuntos
Óxido Nítrico Sintase Tipo I/genética , Polimorfismo Genético , Estenose Pilórica Hipertrófica/genética , Regiões 5' não Traduzidas/genética , DNA/genética , Doenças em Gêmeos/genética , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Desequilíbrio de Ligação , Masculino , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Estenose Pilórica Hipertrófica/epidemiologiaRESUMO
The addition of chondroitin sulphate (CS) to bone cements with calcium phosphate has lead to an enhancement of bone remodeling and an increase in new bone formation in small animals. The goal of this study was to verify the effect of CS in bone cements in a large animal model simulating a clinically relevant situation of a segmental cortical defect of a critical size on bone-implant interaction and bone remodeling. The influence of adding CS to hydroxyapatite/collagen (HA/Col) composites on host response was assessed in a standard sheep tibia model. A midshaft defect of 3 cm was created in the tibiae of 14 adult female sheep. The defect was filled with a HA/Col cement cylinder in seven animals and with a CS-modified hydroxyapatite/collagen (HA/Col/CS) cement cylinder in seven animals. In all cases the tibia was stabilized with an interlocked universal tibial nail. The animals in each group were analyzed with X-rays, CT scans, histology, immunohistochemistry, and enzymehistochemistry, as well as histomorphometric measurements. The X-ray investigation showed a significantly earlier callus reaction around the HA/Col/CS implants compared to HA/Col alone. The amount of newly formed bone at the end point of the experiment was significantly larger around HA/Col/CS cylinders both in the CT scan and in the histomorphometric analysis. There were still TRAP-positive osteoclasts around the HA/Col implants after 3 months. The number of osteopontin-positive osteoblasts and the direct bone contact were significantly higher around HA/Col/CS implants. We conclude that addition of CS enhances bone remodeling and new bone formation around HA/Col composites.
Assuntos
Remodelação Óssea , Substitutos Ósseos/química , Sulfatos de Condroitina/química , Colágeno/química , Durapatita/química , Tíbia/metabolismo , Animais , Cimentos Ósseos/química , Osso e Ossos/metabolismo , Feminino , Imuno-Histoquímica/métodos , Osteoblastos/metabolismo , Osteopontina/química , Ovinos , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: Primary pulmonary mucoepidermoid carcinomas (MECs) are the third most frequent pulmonary malignant neoplasm in children, and new molecular diagnostics may prove useful in determining the biologic course of such tumors. METHODS: We analyzed the presence of a balanced t(11;19)(q21; p12~p13.11) and the MECT1-MAML2 fusion transcript in a 9-year-old girl with mucoepidermoid lung carcinoma using conventional cytogenetics, fluorescence in-situ hybridization, spectral karyotyping, high-resolution multicolor banding, and reverse transcriptase-polymerase chain reaction. RESULTS: We confirmed the t(11;19)(q21; p12~p13.11) in the tumor. Molecular analysis of the translocation breakpoint confirmed the presence of the MECT1-MAML2 fusion transcript postulated to lead to an altered cyclic adenosine monophosphate signaling in MEC. CONCLUSIONS: Our data concur with previously reported cases, in which t(11;19) appears to be the primary chromosomal aberration for pulmonary MEC in children, and that the MECT1-MAML2 fusion transcript is associated with a better prognosis in MEC tumors.
Assuntos
Carcinoma Mucoepidermoide/genética , Neoplasias Pulmonares/genética , Proteínas de Fusão Oncogênica/genética , Biomarcadores Tumorais/análise , Carcinoma Mucoepidermoide/patologia , Carcinoma Mucoepidermoide/cirurgia , Criança , Citogenética , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/cirurgia , Prognóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Fatores de TranscriçãoRESUMO
BACKGROUND: Injuries are the most common cause of mortality in children, also accounting considerably for childhood morbidity. However, data on injuries only provide valid information on the actual risk of each injury-causing activity when taken in consideration of the relationship with actual activity exposure data. Therefore, the primary goal of this investigation is to determine the relative risk of normal child and adolescent activities. METHODS: From January 1, 1999 to December 31, 2001, a school questioning in regard to social, pedagogic, and leisure activities was performed among 2,325 students ranging from 6 to 17 years old. A total of 3,645 injuries sustained by children and adolescents treated at the surgical emergency department of the University Hospital Dresden were analyzed. Furthermore, a danger awareness test was performed. RESULTS: Forty-three percent of all injuries happened during leisure time, 41% at school, 8% in traffic, and 8% at home. Bicycle riding was pointed out as the most frequent leisure activity, regardless of gender and age. Horse riding had a 9-fold increased risk and moped driving had a 23.75-fold increased risk for injury compared with adolescent bike riding. Horse riding and snowboarding showed an increased risk for injury in children (5.6- and 4.2-fold, relative to biking). The level of danger awareness was significantly lower in children with a history of frequent injuries. CONCLUSIONS: The riskier activities were horse-riding, moped driving, and snowboarding. The level of danger awareness did affect the frequency of injuries. The authors recommend a danger awareness test for all children to identify those who would benefit from injury prevention training.