Myeloid sarcoma occurring concurrently with drug-induced gingival enlargement

BACKGROUND: Myeloid sarcoma is an extramedullary malignancy of myeloblasts. An unusual case of myeloid sarcoma presenting in the gingiva and affected by drug-induced gingival enlargement is presented. METHODS: A 63-year-old male taking amlodipine for his hypertension presented with a 3-week gingival enlargement. Although the obvious clinical impression was that of drug-induced gingival enlargement, an incisional biopsy was performed to corroborate chemical enlargement while ruling out diseases such as lymphoma and leukemia. RESULTS: Microscopic examination of the thickened gingiva revealed surface stratified squamous epithelium having needle-like rete pegs characteristic of drug-induced gingival enlargement. Beneath the surface epithelium, the fibrous tissue was virtually replaced by a dense infiltrate of malignant cells. Immunohistochemical studies were performed with CD117 and myeloperoxidase identifying the malignant cell population as myeloblasts, leading to a diagnosis of myeloid sarcoma. CONCLUSION: Myeloid sarcoma and hematopoietic malignancies must be included in a differential diagnosis of gingival enlargement until the definitive diagnosis is reached by histologic/laboratory examination.     

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We describe a patient with slowly progressive spastic paraparesis, segmental dystonia, intellectual disability, behavioral problems, and evidence of permanent, incomplete myelination associated with progressive cerebellar atrophy. Whole exome sequencing revealed a novel E410K de novo heterozygous mutation in the TUBB4A gene. The clinical and radiological picture of our patient is different from the classic phenotype; thus, it expands the phenotypic variation of TUBB4A-gene-related disorders.     

The no-reflow phenomenon in coronary arteries

No reflow occurs when there is inadequate myocardial perfusion of a given segment of the coronary circulation without evidence of epicardial vessel obstruction. It is a rare but clinically significant condition associated with myocardial infarction and coronary interventions. Diagnosis is usually based on clinical signs of myocardial ischemia (symptoms and/or ECG changes) combined with coronary angiography. Management can be difficult and primarily consists of intracoronary administration of vasodilators. One interesting etiology is thromboembolism and this has become the focus for new potential treatments, including distal embolic protection devices.     

Valproic acid inhibits invasiveness in bladder cancer but not in prostate cancer cells

Histone deacetylase inhibitors (HDACIs) represent a promising new class of antineoplastic agents that affect proliferation, differentiation, and apoptosis in both solid and hematologic malignancies. In addition, HDACIs can alter the expression of at least one cellular adhesion molecule, the coxsackie and adenovirus receptor, in bladder cancer. Because HDACIs can increase expression of a known cellular adhesion molecule, we hypothesized that migration and/or invasion may also be affected. We evaluated this hypothesis using valproic acid (VPA), a commonly prescribed anticonvulsant recently shown to have potent HDACI activity, in the bladder cancer cell lines T24 TCC-SUP, HT1376, and RT4. Analyses of cell migration and invasion were both qualitative (fluorescent microscopy) and quantitative (static and dynamic migration/invasion assays). Our results show that acute VPA treatment (72 h) causes a dose-dependent decrease in invasion for all bladder cancer cell lines, except RT4, a noninvasive papilloma. Migration, in contrast, was not affected by VPA treatment. The inhibitory effect of VPA may be cancer type-specific, because there was no difference in invasion between treated and untreated prostate cancer cell lines LNCaP, PC3, and DU145. Furthermore, when administered chronically (34 days), VPA significantly inhibits growth of T24t tumor xenografts. Our data suggest that VPA exerts some of its antineoplastic effects by inhibiting invasion as well as tumor growth, and thus it may represent a novel adjuvant strategy for patients at high risk of recurrence and/or progression of muscle invasive bladder cancer.     

Neonatal small left colon syndrome in twins

There are no previous reports of small left colon syndrome in twins. Small left colon syndrome is reported in 2 sets of twins. In 1 set 1 twin had clinical and radiographic signs of small left colon syndrome. The sib was clinically normal and had no radiographic studies. In the other set, both twins hadidentical clinical and radiographic findings of hyperplastic left colon. This suggests a genetic and/or environmental intrauterine, rather than a postpartum etiology for the small left colon syndrome.     

“Not Just Right Experiences” in Adolescents: Phenomenology and Associated Characteristics

Efforts to understand the nature of “Not Just Right Experiences” (NJREs) have expanded the scientific understanding of obsessive–compulsive (OC) behavior. Approximately 80 % of unselected adults report experiencing NJREs and these experiences have been found to highly correlate with OC behavior. The purpose of this study was to assess NJREs in an unselected sample of adolescents (ages 14–17; N = 152), to compare their experience with adults (N = 237), and to assess the relation between NJREs and OC symptoms. Findings from questionnaires completed on the Internet were consistent with previous findings in adults, 81 % of adolescents endorsed recently having an NJRE. Some reactions differed according to age: adults reported NJREs as more frequent and adolescents endorsed feeling more compelled to respond. Surprisingly, OC symptoms were not significantly related to NJREs in the adolescents. Implications, limitations, and future directions for the study of NJREs in youth are discussed.     

Comparing algorithms for deriving psychosis diagnoses from longitudinal administrative clinical records

Purpose

Registers derived from administrative datasets are valuable tools in psychosis research, but diagnostic accuracy can be problematic. We sought to compare the relative performance of four methods for assigning a single diagnosis from longitudinal administrative clinical records when compared with reference diagnoses.

Methods

Diagnoses recorded in inpatient and community mental health records were compared to research diagnoses of psychotic disorders obtained from semi-structured clinical interviews for 289 persons. Diagnoses were derived from administrative datasets using four algorithms; ‘At least one’ diagnosis, ‘Last’ or most recent diagnosis, ‘Modal’ or most frequently occurring diagnosis, and ‘Hierarchy’ in which a diagnostic hierarchy was applied. Agreements between algorithm-based and reference diagnoses for overall presence/absence of psychosis and for specific diagnoses of schizophrenia, schizoaffective disorder, and affective psychosis were examined using estimated prevalence rates, overall agreement, ROC analysis, and kappa statistics.

Results

For the presence/absence of psychosis, the most sensitive and least specific algorithm (‘At least one’ diagnosis) performed best. For schizophrenia, ‘Modal’ and ‘Last’ diagnoses had greatest agreement with reference diagnosis. For affective psychosis, ‘Hierarchy’ diagnosis performed best. Agreement between clinical and reference diagnoses was no better than chance for diagnoses of schizoaffective disorder. Overall agreement between administrative and reference diagnoses was modest, but may have been limited by the use of participants who had been screened for likely psychosis prior to assessment.

Conclusion

The choice of algorithm for extracting a psychosis diagnosis from administrative datasets may have a substantial impact on the accuracy of the diagnoses derived. An ‘Any diagnosis’ algorithm provides a sensitive measure for the presence of any psychosis, while ‘Last diagnosis’ is more accurate for specific diagnosis of schizophrenia and a hierarchical diagnosis is more accurate for affective psychosis.