A rare case of a signet ring cell carcinoma of the colon mimicking a juvenile polyp

Primary signet ring cell carcinoma (SRC) of colon at early stage is quite rare. Only 26 cases were reported until now. We report an early stage of primary SRC which was misdiagnosed as a juvenile polyp and treated with polypectomy followed by surgical resection. A 21-year-old male was administered for hematochezia. Abdominopelvic enhanced computed tomography revealed a polyp with active bleeding at the proximal rectum just below the rectosigmoid junction. Colonoscopy examination revealed a colon polyp with 0.5 cm sized head. Polypectomy was performed with snare and the polyp was completely removed. Biopsy revealed SRC. Surgical resection was also performed and there were no residual tumor or lymph node metastasis in the surgical specimen.     

BMPR1A mutations in juvenile polyposis affect cellular localization

Background

Juvenile polyposis (JP) is characterized by the development of hamartomatous polyps of the gastrointestinal tract that collectively carry a significant risk of malignant transformation. Mutations in the bone morphogenetic protein receptor type 1A (BMPR1A) are known to predispose to JP. We set out to study the effect of such missense mutations on BMPR1A cellular localization.

Methods

We chose eight distinct mutations for analysis. We tagged a BMPR1A wild-type (WT) expression plasmid with green fluorescent protein on its C-terminus. Site-directed mutagenesis was used to recreate JP patient mutations from the WT–green fluorescent protein BMPR1A plasmid. We verified mutant expression vector sequences by direct sequencing. First, we transfected BMPR1A expression vectors into HEK-293T cells; then, we performed confocal microscopy to determine cellular localization. Four independent observers used a scoring system from 1 to 3 to categorize the degree of membrane versus cellular localization.

Results

Of the eight selected mutations, one was within the signaling peptide, four were within the extracellular domain, and three were within the intracellular domain. The WT BMPR1A vector had strong membrane staining, whereas all eight mutations had much less membrane and much more intracellular localization. Enzyme-linked immunosorbent assays for BMPR1A demonstrated no significant differences in protein quantities between constructs, except for one affecting the start codon.

Conclusions

Bone morphogenetic protein receptor type 1A missense mutations occurring in patients with JP affected cellular localization in an in vitro model. These findings suggest a mechanism by which such mutations can lead to disease by altering downstream signaling through the bone morphogenetic protein pathway.     

Coronary artery abnormalities in children with systemic-onset juvenile idiopathic arthritis

Still's disease (Systemic-onset Juvenile Idiopathic Arthritis: SoJIA) is characterised by high-spiking daily fevers, arthritis and evanescent rashes. Diagnosis of Still's disease is often challenging. Infectious diseases and other inflammatory conditions, especially in young children, Kawasaki disease may look similar. Clinicians often rely on echocardiographic evidence of coronary artery abnormalities to differentiate between Kawasaki disease and Still's disease. Coronary artery dilation would typically favour the diagnosis of Kawasaki disease. We present four children with Still's disease and coronary artery abnormalities who were initially misdiagnosed as Kawasaki disease. The first patient had pericarditis and an irregular wall of the left coronary artery, without dilation on echocardiography. The second patient had a left coronary artery dilatation and a pericarditis. The third patient had thickened left coronary artery walls, and the fourth patient had a hyperechogenicity of the left and right coronary arteries. They received IVIG without success. The diagnosis of Still's disease was made secondary with evidence of persistent arthritis. All but one patient finally needed biologic treatments. Coronary abnormalities may be observed during various febrile conditions and do not exclude the diagnosis of Still's disease.     

Temperament and character and psychopathy in male conduct disordered offenders

Adult male offenders with high psychopathy scores are characterized by high Novelty Seeking, low Harm Avoidance and low Cooperativeness; temperament and character traits that may moderate treatment outcomes. This is the first study to investigate if a similar profile is present in juveniles. One hundred and twenty two incarcerated juvenile male offenders who met the criteria for conduct disorder in the absence of current psychiatric disorder (e.g. psychosis, depression, anxiety) were rated on the Temperament and Character Inventory (TCI) and the Psychopathy Checklist: Youth Version (PCL: YV). PCL: YV total score was positively correlated with Novelty Seeking but negatively correlated with Cooperativeness and Harm Avoidance. Examination of the PCL: YV facets indicated a significant negative correlation between Harm Avoidance and PCL: YV Interpersonal and PCL: YV Antisocial; and Reward Dependence and Cooperativeness and PCL: YV Lifestyle/Behavioral. Relationships were primarily with lifestyle/behavioral and antisocial facets of psychopathy. The TCI profile resembles that seen in adult offenders and has implications for treatment as low cooperativeness and reward dependency are likely to be key responsivity factors that need to be addressed in treatment planning.     

Anxiety,depression, impulsivity and substance misuse in violent and non-violent adolescent boys in detention in China

The present investigation aims to identify the factors which differentiate violent from non-violent juvenile offenders, with a particular emphasis on the association between internalizing psychiatric morbidity (i.e. anxiety and depression), impulsivity, substance misuse, and violence. A total of 323 incarcerated male juvenile offenders from one of three Youth Detention Centers (YDCs) in China were recruited between August 2007 and November 2008. Interviews were conducted by trained psychiatrists using the Barratt Impulsivity Scale (BIS-11), the Screen for Child Anxiety Related Emotional Disorders (SCARED), and the Birleson Depression Self-Rating Scale (DSRS) to assess impulsivity, anxiety and depression, respectively. The Schedule for Affective Disorder and Schizophrenia for School-Age Children Present and Lifetime (K-SADS-PL) was also used to assess psychiatric diagnoses. Violent offenders had significantly higher BIS-11 total scores, and attention and nonplanning subscale scores (p<0.05). In the multiple logistic regression model, substance use disorders (SUD) and BIS-11 total scores independently predicted violence. Prison-based treatment services designed to reduce impulsivity and substance misuse in juvenile detention facilities should be prioritized.     

Current status of MR imaging of juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA) is the most common chronic arthropathy in the pediatric population. Although the diagnosis is essentially clinical for many affected joints, MR imaging has become an important tool for the assessment of joints that are difficult to evaluate clinically, such as temporomandibular and sacroiliac joints, and for screening of inflammatory changes in the entire body by whole body MRI (WBMRI) assessment. The utilization of MR imaging is challenging in the pediatric population given the need for discrimination between pathological and physiological changes in the growing skeleton. Several multicentric multidisciplinary organizations have made major efforts over the past decades to standardize, quantify, and validate scoring systems to measure joint changes both cross-sectionally and longitudinally according to rigorous methodological standards. In this paper, we (1) discuss current trends for the diagnosis and management of JIA, (2) review challenges for detecting real pathological changes in growing joints, (3) summarize the current status of standardization of MRI protocols for data acquisition and the quantification of joint pathology in JIA by means of scoring systems, and (4) outline novel MR imaging techniques for the evaluation of anatomy and function of joints in JIA. Optimizing the role of MRI as a robust biomarker and outcome measure remains a priority of future research in this field.     

Individual Physical Activity Behaviour and Group Composition as Determinants of the Effectiveness of a Childhood Obesity Intervention Program

IntroductionUp to now, there is limited clarity on factors that determine the effectiveness of childhood obesity interventions.ObjectiveThis study intends to uncover individual- and program-level predictors of BMI-SDS and fitness to achieve significant, sustainable health improvements.MethodsData of 249 children with obesity or overweight who participated in an outpatient multidisciplinary program were analysed and compared to 54 waitlist controls. Linear regression models were used to examine associations between individual- and group-level variables and BMI-SDS and fitness.ResultsAmong intervention children, BMI-SDS decreased by 0.19 units and physical fitness increased by 11.5%, versus a BMI-SDS decrease of 0.07 and a 1.8% decrease in fitness in the control group. Participants who reported being physically active before the program start achieved greater improvements in BMI-SDS (β = −0.177, p < 0.05) and physical fitness (β = 0.174, p < 0.05) than inactive peers. BMI-SDS decreased significantly more for members of gender-heterogeneous groups (β = 0.194, p < 0.05) with a narrow age range (β = 0.152, p < 0.05).ConclusionsThe program under review is effective in counteracting juvenile obesity. The results give reason to believe that forming mixed-gender groups with a small age range and providing increased support for reportedly inactive children may improve program effectiveness.     

Magnetic evoked potential polyphasia in idiopathic/genetic generalized epilepsy: An endophenotype not associated with treatment response

ObjectiveIncreased Motor Evoked Potential (MEP) polyphasia was recently described in idiopathic/genetic generalized epilepsy (IGE). Here, we studied the association of MEP polyphasia with treatment response and other clinical characteristics in patients with IGE.MethodsMEPs were recorded from the biceps brachii, flexor carpi radialis and interosseus dorsalis muscles bilaterally during tonic contraction in IGE patients (n = 72) and historical controls (n = 54) after single pulse transcranial magnetic stimulation. Detailed clinical data was available for all IGE patients; predefined endpoint was the association of MEP polyphasia with treatment response.ResultsThe mean number of phases was higher in the interosseus dorsalis muscle (2.33 vs. 2.13, p = 0.002) in IGE patients as compared to normal controls, as was the proportion of MEPs with more than two phases in at least one test (59.4% vs. 30%, p < 0.002). MEP polyphasia did not differ between IGE patients and controls in the biceps brachii or the flexor carpi radialis muscles and was not associated with treatment response. Extensive exploratory analyses unveiled fewer phases under valproic acid treatment (p = 0.04) but no additional associations of MEP polyphasia in the interosseous muscle with other clinical characteristics.ConclusionMEP polyphasia is a subclinical symptom of IGE patients but is not associated with treatment response or other routinely assessed clinical characteristics.SignificanceMEP polyphasia is a fixed feature of IGE not modified by clinical variables.     

Mapping the Gene for Juvenile Myoclonic Epilepsy

Summary: The practice of epileptology at a molecular level, where gene products are identified by gene mapping, will soon be possible for a growing number of epilepsies. Juvenile myoclonic epilepsy (JME) is the first of such epilepsies to be mapped to a chromosome, namely chromosome 6p21.3. Family studies of 68 JME probands from California revealed 50% of all families reported seizures in first- or second-degree relatives. Twelve percent of all family members other than the proband had epileptic seizures. Eighty percent of symptomatic siblings and 6% of asymptomatic siblings had diffuse 4- to 6-Hz multi-spike-wave complexes. Twelve percent of asymptomatic parents had diffuse, nonspecific slow waves mixed with spikes or sharp waves. JME is tightly linked to the Bf-HLA loci in chromosome 6. No matter what mode of inheritance is assumed, linkage to the clinical manifestations of JME and its associated EEG traits is indicated by lod scores over 3.0, as long as "EEG affected" but clinically asymptomatic family members are counted as affected during LIPED analysis. Studies are now being done to further localize the JME site. At the same time, further linkage studies should decide if JME is heterogeneous within itself and whether the same JME site in 6p21.3 underlies absence and grand mal epilepsies.     

Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families

PURPOSE: Previous linkage studies provided evidence for juvenile myoclonic epilepsy (JME) susceptibility loci at 6p11-12, HLA-6p21.3 region, 15q14, and 5q34. These results indicate locus heterogeneity or interpopulation differences, thus underlining the importance of replication studies. METHODS: We describe a replication linkage study of the 6p-q13 region in 18 families ascertained from JME probands of Dutch descent. In the presence of heterogeneity, the definition of the disease status may be crucial, and we therefore used two disease phenotypes: narrow [JME/idiopathic generalized epilepsy (IGE)-"only"] and broad (JME/IGE-plus-fast EEG background activity). RESULTS: We found evidence of linkage at 6p11-12 in multipoint analyses (p < 0.01 in a replication study) for both these disease definitions. Analysis of this region, assuming heterogeneity and autosomal dominant inheritance with a conservative 60% of penetrance, gave a maximum multipoint parametric lod score of 2.07 at D6S1573 for the narrow phenotype and peaked at 2.53 between D6S1623 and D6S1573 for the broad phenotype. The p value for nonparametric linkage reached 0.0013 for the narrow phenotype and 0.0010 for the broad. Significant exclusion (lod score 相似文献