Chondroid Syringoma and Eccrine Spiradenoma

Fine needle aspiration cytology (FNAC) is a well established diagnostic tool. However, most clinicians prefer to diagnose suspected skin tumors by excisional biopsy as they are easily accessible and hence benign skin adnexal tumors are rarely encountered on FNAC. There are only a very few case reports describing the fine needle aspiration cytologic features of chondroid syringoma and eccrine spiradenoma for diagnosis. Cases: First case was a 20 year old female who presented with firm,non-tender swelling in the left little finger measuring 1 cm in diameter. Smears showed clusters of round to plasmacytoid cells with moderate to abundant cytoplasm embedded in a chondromyxoid ground substance . Hence, a diagnosis of chondroid syringoma was made. Another case was a 40 year old lady who presented with a painful swelling on the anterior chest wall measuring approximately 0.8 cms in diameter. Smears were moderately cellular with cohesive sheets and clusters of bland cells of three different cell types. Hence, a probable diagnosis of eccrine spiradenoma was made and both the cases were confirmed histologically. Conclusion: Appropriate knowledge of the cytologic features of chondroid syringoma and eccrine spiradenoma helps in providing a definitive diagnosis and correct management of the patient

Hypolithic and soil microbial community assembly along an aridity gradient in the Namib Desert

The Namib Dessert is considered the oldest desert in the world and hyperarid for the last 5 million years. However, the environmental buffering provided by quartz and other translucent rocks supports extensive hypolithic microbial communities. In this study, open soil and hypolithic microbial communities have been investigated along an East–West transect characterized by an inverse fog-rainfall gradient. Multivariate analysis showed that structurally different microbial communities occur in soil and in hypolithic zones. Using variation partitioning, we found that hypolithic communities exhibited a fog-related distribution as indicated by the significant East– West clustering. Sodium content was also an important environmental factor affecting the composition of both soil and hypolithic microbial communities. Finally, although null models for patterns in microbial communities were not supported by experimental data, the amount of unexplained variation (68–97 %) suggests that stochastic processes also play a role in the assembly of such communities in the Namib Desert.Web of Scienc

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases

A Rare Case of Primary Insitu Squamous Cell Carcinoma of the Endometrium with Extensive Icthyosis Uteri

Primary squamous cell carcinoma of the endometrium is exceedingly rare. We report a case of 52 years old postmenopausal woman who presented with pelvic pain of four months duration. Gynecologic examination revealed a normal cervix. A possibility of pyometra was considered through pelvic ultrasound. Total abdominal hysterectomy was performed and histopathologically, it was diagnosed as a case of primary in situ squamous cell carcinoma of the endometrium

Avaliação comportamental em crianças com disturbios obstrutivos do sono Behavioral evaluation in children with obstructive sleep disorders

Os distúrbios obstrutivos do sono são relativamente freqüentes na população pediátrica. Em crianças, SAOS resultaria em conseqüências clínicas significantes, incluindo atraso do crescimento, disfunção ventricular direita e esquerda e problemas de aprendizagem e comportamento. OBJETIVO: Avaliar o comportamento em crianças com distúrbio obstrutivo do sono. MATERIAL E MÉTODO: Pais de crianças de 4 a 18 anos de idade do Centro do Respirador Bucal da UNIFESP-EPM de janeiro a julho de 2005. Foi aplicado o CBCL/4-18 (Child Behavioral Checklist) ou inventário de comportamento de crianças e adolescentes. RESULTADOS: Foram avaliadas 20 crianças. Dessas, 12 eram meninos e 8, meninas. O escore total do problema foi anormal em 5 crianças (25%). A escala de introversão foi anormal em 2 pacientes (10%). A escala de extroversão foi anormal em 5 pacientes (25%). As escalas de síndromes individuais foram anormais entre 0 e 20% dos pacientes. As escalas individuais que foram mais afetadas são as seguintes: competência total (20%), queixas somáticas (10%), problemas sociais (10%) e comportamento agressivo (10%). DISCUSSÃO: Este estudo demonstra alta prevalência (25%) de comportamento anormal. Embora largamente citado como uma complicação comum de SAOS na infância, distúrbios comportamentais e neurocognitivos têm sido inferidos em séries de casos e estudos. Existem poucos trabalhos usando medidas padronizadas para avaliar os distúrbios comportamentais e de desenvolvimento.<br>AIM: The purpose of this study was to evaluate the behavior in children with obstructive sleep disorder. STUDY DESIGN: Prospective study. MATERIAL AND METHOD: Children’s parents (4 to 18 years old) completed the CBCL4/18 (Child Behavior Checklist) in the period of January to July 2005. RESULTS: In the group, 12 (60%) were males and 8 (40%) females; the total problem score was abnormal in 5 children (25%); introversion was affected in 2 children (10%); extroversion in 5 children (25%). The scales of individual syndromes were abnormal in between 0 and 20% of patients. The individual scales most frequently affected were: total competency (20%), somatic complaints (10%), social problems (10%) and aggressive behavior (10%). DISCUSSION: This study demonstrates high prevalence (25%) of abnormal behavior. Although widely reported as a common complication of pediatric OSAS, behavioral and neurocognitive disorders have mostly been inferred in several cases and studies. There are few recent studies using standardized assessment to evaluate these alterations. Our study presents preliminary results of the behavior of children with obstructive sleep disorders

The spectrum and severity of FUS-immunoreactive inclusions in the frontal and temporal lobes of ten cases of neuronal intermediate filament inclusion disease

Neuronal intermediate filament inclusion disease (NIFID), a rare form of frontotemporal lobar degeneration (FTLD), is characterized neuropathologically by focal atrophy of the frontal and temporal lobes, neuronal loss, gliosis, and neuronal cytoplasmic inclusions (NCI) containing epitopes of ubiquitin and neuronal intermediate filament proteins. Recently, the 'fused in sarcoma' (FUS) protein (encoded by the FUS gene) has been shown to be a component of the inclusions of familial amyotrophic lateral sclerosis with FUS mutation, NIFID, basophilic inclusion body disease, and atypical FTLD with ubiquitin-immunoreactive inclusions (aFTLD-U). To further characterize FUS proteinopathy in NIFID, and to determine whether the pathology revealed by FUS immunohistochemistry (IHC) is more extensive than a-internexin, we have undertaken a quantitative assessment of ten clinically and neuropathologically well-characterized cases using FUS IHC. The densities of NCI were greatest in the dentate gyrus (DG) and in sectors CA1/2 of the hippocampus. Anti-FUS antibodies also labeled glial inclusions (GI), neuronal intranuclear inclusions (NII), and dystrophic neurites (DN). Vacuolation was extensive across upper and lower cortical layers. Significantly greater densities of abnormally enlarged neurons and glial cell nuclei were present in the lower compared with the upper cortical laminae. FUS IHC revealed significantly greater numbers of NCI in all brain regions especially the DG. Our data suggest: (1) significant densities of FUS-immunoreactive NCI in NIFID especially in the DG and CA1/2; (2) infrequent FUS-immunoreactive GI, NII, and DN; (3) widely distributed vacuolation across the cortex, and (4) significantly more NCI revealed by FUS than a-internexin IHC

FUS immunogold labelling TEM analysis of the neuronal cytoplasmic inclusions of neuronal intermediate filament inclusion disease: a frontotemporal lobar degeneration with FUS proteinopathy.

Fused in sarcoma (FUS)-immunoreactive neuronal and glial inclusions define a novel molecular pathology called FUS proteinopathy. FUS has been shown to be a component of inclusions of familial amyotrophic lateral sclerosis with FUS mutation and three frontotemporal lobar degeneration entities, including neuronal intermediate filament inclusion disease (NIFID). The pathogenic role of FUS is unknown. In addition to FUS, many neuronal cytoplasmic inclusions (NCI) of NIFID contain aggregates of -internexin and neurofilament proteins. Herein, we have shown that: (1) FUS becomes relatively insoluble in NIFID and there are no apparent posttranslational modifications, (2) there are no pathogenic abnormalities in the FUS gene in NIFID, and (3) immunoelectron microscopy demonstrates the fine structural localization of FUS in NIFID which has not previously been described. FUS localized to euchromatin, and strongly with paraspeckles, in nuclei, consistent with its RNA/DNA-binding functions. NCI of varying morphologies were observed. Most frequent were the "loosely aggregated cytoplasmic inclusions," 81% of which had moderate or high levels of FUS immunoreactivity. Much rarer "compact cytoplasmic inclusions" and "tangled twine ball inclusions" were FUS-immunoreactive at their granular peripheries, or heavily FUS-positive throughout, respectively. Thus, FUS may aggregate in the cytoplasm and then admix with neuronal intermediate filament accumulations

Improving inter-observer variability in the evaluation of ultrasonographic features of polycystic ovaries

<p>Abstract</p> <p>Background</p> <p>We recently reported poor inter-observer agreement in identifying and quantifying individual ultrasonographic features of polycystic ovaries. Our objective was to determine the effect of a training workshop on reducing inter-observer variation in the ultrasonographic evaluation of polycystic ovaries.</p> <p>Methods</p> <p>Transvaginal ultrasound recordings from thirty women with polycystic ovary syndrome (PCOS) were evaluated by three radiologists and three reproductive endocrinologists both before and after an ultrasound workshop. The following endpoints were assessed: 1) follicle number per ovary (FNPO), 2) follicle number per single cross-section (FNPS), 3) largest follicle diameter, 4) ovarian volume, 5) follicle distribution pattern and 6) presence of a corpus luteum (CL). Lin's concordance correlation coefficients (rho) and kappa statistics for multiple raters (kappa) were used to assess level of inter-observer agreement (>0.80 good, 0.60 – 0.80 moderate/fair, <0.60 poor).</p> <p>Results</p> <p>Following the workshop, inter-observer agreement improved for the evaluation of FNPS (rho = 0.70, delta rho = +0.11), largest follicle diameter (rho = 0.77, delta rho = +0.10), ovarian volume (rho = 0.84, delta rho = +0.12), follicle distribution pattern (kappa = 0.80, delta kappa = +0.21) and presence of a CL (kappa = 0.87, delta kappa = +0.05). No improvement was evident for FNPO (rho = 0.54, delta rho = -0.01). Both radiologists and reproductive endocrinologists demonstrated improvement in scores (p < 0.001).</p> <p>Conclusion</p> <p>Reliability in evaluating ultrasonographic features of polycystic ovaries can be significantly improved following participation in a training workshop. If ultrasonographic evidence of polycystic ovaries is to be used as an objective measure in the diagnosis of PCOS, then standardized training modules should be implemented to unify the approach to evaluating polycystic ovarian morphology.</p