scholarly journals Type I cutaneous meningioma of dorsal thoracic spine (Rudimentary Meningocele): A rare entity at an unusual site

2021 ◽  
Vol 6 (4) ◽  
pp. 311-315
Author(s):  
Rakhi V Jagdale ◽  
Mamta V Kripalani ◽  
Jaydeep N Pol ◽  
Sachin J Patil ◽  
Santosh S Kullolli
Keyword(s):  
Rare Variants ◽  
Fistulous Tract ◽  
Type I ◽  
Rare Entity ◽  
Indian Literature ◽  
Psammoma Bodies ◽  
Diagnostic Challenge ◽  
Unusual Site ◽  
Dural Sac ◽  
Spindle Cells

Cutaneous meningiomas (CM) are rare variants of meningiomas which are further classified into three subtypes. Type I CM (TICM) or Rudimentary meningocele (RM) is an uncommon developmental anomaly in which meningothelial elements are displaced into the skin and soft tissue. We present a case of 11 year boy with an upper back swelling since early childhood. His MRI spine showed a lesion at T4-T7 level with a fistulous tract connecting it to dural sac. Histopathology revealed clusters of oval to spindle cells arranged in whorls amidst collagen bundles and psammoma bodies. On immunohistochemistry these cells expressed EMA and Vimentin. A diagnosis of TICM was rendered based on these characteristic clinico-radiological & histopathological features. TICM pose a diagnostic challenge clinically and histopathologically and have an excellent prognosis. This is the 4 Indian case of RM and the 1 case of RM to be located in the spine in the Indian literature.

A New Classification for Pathologies of Spinal Meninges, Part 1: Dural Cysts, Dissections, and Ectasias

Neurosurgery ◽  
2017 ◽  
Vol 81 (1) ◽  
pp. 29-44 ◽  
Author(s):  
Jörg Klekamp
Keyword(s):  
Structural Changes ◽  
Long Term Results ◽  
Type I ◽  
Type Ii ◽  
New Classification ◽  
Type Iii ◽  
Dural Sac ◽  
Spinal Cord Herniation ◽  
Dural Defects

Abstract BACKGROUND: The clinical significance of pathologies of the spinal dura is often unclear and their management controversial. OBJECTIVE: To classify spinal dural pathologies analogous to vascular aneurysms, present their symptoms and surgical results. METHODS: Among 1519 patients with spinal space-occupying lesions, 66 patients demonstrated dural pathologies. Neuroradiological and surgical features were reviewed and clinical data analyzed. RESULTS: Saccular dural diverticula (type I, n = 28) caused by defects of both dural layers, dissections between dural layers (type II, n = 29) due to defects of the inner layer, and dural ectasias (type III, n = 9) related to structural changes of the dura were distinguished. For all types, symptoms consisted of local pain followed by signs of radiculopathy or myelopathy, while one patient with dural ectasia presented a low-pressure syndrome and 10 patients with dural dissections additional spinal cord herniation. Type I and type II pathologies required occlusion of their dural defects via extradural (type I) or intradural (type II) approaches. For type III pathologies of the dural sac no surgery was recommended. Favorable results were obtained in all 14 patients with type I and 13 of 15 patients with type II pathologies undergoing surgery. CONCLUSION: The majority of dural pathologies involving root sleeves remain asymptomatic, while those of the dural sac commonly lead to pain and neurological symptoms. Type I and type II pathologies were treated with good long-term results occluding their dural defects, while ectasias of the dural sac (type III) were managed conservatively.

A Carcinosarcoma/Sarcomatoid Carcinoma Arising in a Urinary Bladder Diverticulum

2002 ◽  
Vol 126 (7) ◽  
pp. 853-855 ◽  
Author(s):  
Atilla Omeroglu ◽  
Gladell P. Paner ◽  
Eva M. Wojcik ◽  
Kalliopi Siziopikou
Keyword(s):  
Urinary Bladder ◽  
Sarcomatoid Carcinoma ◽  
High Grade ◽  
Bladder Diverticulum ◽  
Unusual Site ◽  
Muscular Layer ◽  
Spindle Cells ◽  
Aggressive Tumor ◽  
Glandular Structures ◽  
Pleomorphic Cells

Abstract We describe an invasive polypoid carcinosarcoma/sarcomatoid carcinoma arising within a urinary bladder diverticulum in a 65-year-old patient with synchronous, moderately differentiated prostatic adenocarcinoma. Histologically, the diverticular tumor exhibits an admixture of different morphologic components, including invasive high-grade urothelial carcinoma, malignant glandular structures in a cellular background of malignant spindle cells, and areas formed exclusively by spindle and pleomorphic cells. There was full-thickness involvement of the diverticulum with extension of the tumor into the perivesical fat and ipsilateral seminal vesicle. In view of the early invasive behavior of carcinosarcoma/sarcomatoid carcinoma combined with the paucity of the muscular layer in the diverticulum wall, a graver prognosis was expected for this aggressive tumor that occurred in this unusual site.

scholarly journals Genetic variability in COVID-19-related genes in the Brazilian population

2020 ◽  
Author(s):  
Rodrigo Secolin ◽  
Tânia K. de Araujo ◽  
Marina C. Gonsales ◽  
Cristiane S. Rocha ◽  
Michel Naslavsky ◽  
...  
Keyword(s):  
Genetic Variability ◽  
Rare Variants ◽  
Brazilian Population ◽  
Type I ◽  
Phase 3 ◽  
Clinical Prognosis ◽  
Hla Alleles ◽  
Link Type ◽  
Human Lung Cells ◽  
The Impact

ABSTRACTSARS-CoV-2 employs the angiotensin-converting enzyme 2 (ACE2) receptor and the transmembrane serine protease (TMPRSS2) to infect human lung cells. Previous studies have suggested that different host genetic backgrounds in ACE2 and TMPRSS2 could contribute to differences in the rate of infection or severity of COVID-19. Recent studies also showed that variants in 15 genes related to type I interferon immunity to influenza virus could predispose to life-threatening COVID-19 pneumonia. Additional genes (SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6, XCR1, IL6, CTSL, ABO, and FURIN) and HLA alleles have also been implicated in response to infection with SARS-CoV-2. Currently, Brazil has recorded the third-highest number of COVID-19 patients worldwide. We aim to investigate the genetic variation present in COVID-19-related genes in the Brazilian population. We analysed 27 candidate genes and HLA alleles in 954 admixed Brazilian exomes. We used the information available in two public databases (http://www.bipmed.org and http://abraom.ib.usp.br/), and additional exomes from individuals born in southeast Brazil, the region with the highest number of COVID-19 patients in the country. Variant allele frequencies were compared with the 1000 Genomes Project phase 3 (1KGP) and the gnomAD databases. We found 395 non-synonymous variants; of these, 325 were also found in the 1000 Genome Project phase 3 (1KGP) and/or gnomAD. Six of these variants were previously reported as putatively influencing the rate of infection or clinical prognosis for COVID-19. The remaining 70 variants were identified exclusively in the Brazilian sample, with a mean allele frequency of 0.0025. In silico prediction of the impact in protein function revealed that three of these rare variants were pathogenic. Furthermore, we identified HLA alleles that were previously associated with COVID-19 response at loci DQB1 and DRB1. Our results showed genetic variability common to other populations, but also rare and ultra-rare variants exclusively found in the Brazilian population. These findings could potentially lead to differences in the rate of infection or response to infection by SARS-CoV-2 and should be further investigated in patients with the disease.

scholarly journals Comparison of haplotype-based tests for detecting gene–environment interactions with rare variants

2019 ◽  
Vol 21 (3) ◽  
pp. 851-862 ◽  
Author(s):  
Charalampos Papachristou ◽  
Swati Biswas
Keyword(s):  
Lung Cancer ◽  
Rare Variants ◽  
Practical Interest ◽  
Serum Triglyceride ◽  
Error Rates ◽  
Type I ◽  
Rare Haplotype ◽  
Data Set ◽  
Cancer Data ◽  
Gene Environment

Abstract Dissecting the genetic mechanism underlying a complex disease hinges on discovering gene–environment interactions (GXE). However, detecting GXE is a challenging problem especially when the genetic variants under study are rare. Haplotype-based tests have several advantages over the so-called collapsing tests for detecting rare variants as highlighted in recent literature. Thus, it is of practical interest to compare haplotype-based tests for detecting GXE including the recent ones developed specifically for rare haplotypes. We compare the following methods: haplo.glm, hapassoc, HapReg, Bayesian hierarchical generalized linear model (BhGLM) and logistic Bayesian LASSO (LBL). We simulate data under different types of association scenarios and levels of gene–environment dependence. We find that when the type I error rates are controlled to be the same for all methods, LBL is the most powerful method for detecting GXE. We applied the methods to a lung cancer data set, in particular, in region 15q25.1 as it has been suggested in the literature that it interacts with smoking to affect the lung cancer susceptibility and that it is associated with smoking behavior. LBL and BhGLM were able to detect a rare haplotype–smoking interaction in this region. We also analyzed the sequence data from the Dallas Heart Study, a population-based multi-ethnic study. Specifically, we considered haplotype blocks in the gene ANGPTL4 for association with trait serum triglyceride and used ethnicity as a covariate. Only LBL found interactions of haplotypes with race (Hispanic). Thus, in general, LBL seems to be the best method for detecting GXE among the ones we studied here. Nonetheless, it requires the most computation time.

scholarly journals Trans-ethnic meta-analysis of rare variants in sequencing association studies

Biostatistics ◽  
2019 ◽  
Author(s):  
Jingchunzi Shi ◽  
Michael Boehnke ◽  
Seunggeun Lee
Keyword(s):  
Rare Variants ◽  
Sequence Data ◽  
Association Studies ◽  
Meta Analysis ◽  
Error Rates ◽  
Efficient Estimation ◽  
Gene Region ◽  
Type I ◽  
Test Statistic ◽  
Different Populations

Summary Trans-ethnic meta-analysis is a powerful tool for detecting novel loci in genetic association studies. However, in the presence of heterogeneity among different populations, existing gene-/region-based rare variants meta-analysis methods may be unsatisfactory because they do not consider genetic similarity or dissimilarity among different populations. In response, we propose a score test under the modified random effects model for gene-/region-based rare variants associations. We adapt the kernel regression framework to construct the model and incorporate genetic similarities across populations into modeling the heterogeneity structure of the genetic effect coefficients. We use a resampling-based copula method to approximate asymptotic distribution of the test statistic, enabling efficient estimation of p-values. Simulation studies show that our proposed method controls type I error rates and increases power over existing approaches in the presence of heterogeneity. We illustrate our method by analyzing T2D-GENES consortium exome sequence data to explore rare variant associations with several traits.

scholarly journals Comprehensive Mining and Characterization of CRISPR-Cas Systems in Bifidobacterium

2020 ◽  
Vol 8 (5) ◽  
pp. 720 ◽  
Author(s):  
Meichen Pan ◽  
Matthew A. Nethery ◽  
Claudio Hidalgo-Cantabrana ◽  
Rodolphe Barrangou
Keyword(s):  
Genome Engineering ◽  
Rare Variants ◽  
Adaptive Immune System ◽  
Effector Proteins ◽  
Type I ◽  
Human Gut ◽  
Adaptive Immune ◽  
Naturally Occurring ◽  
History Of

The clustered regularly interspaced short palindromic repeats (CRISPR)-Cas (CRISPR-associated cas) systems constitute the adaptive immune system in prokaryotes, which provides resistance against bacteriophages and invasive genetic elements. The landscape of applications in bacteria and eukaryotes relies on a few Cas effector proteins that have been characterized in detail. However, there is a lack of comprehensive studies on naturally occurring CRISPR-Cas systems in beneficial bacteria, such as human gut commensal Bifidobacterium species. In this study, we mined 954 publicly available Bifidobacterium genomes and identified CRIPSR-Cas systems in 57% of these strains. A total of five CRISPR-Cas subtypes were identified as follows: Type I-E, I-C, I-G, II-A, and II-C. Among the subtypes, Type I-C was the most abundant (23%). We further characterized the CRISPR RNA (crRNA), tracrRNA, and PAM sequences to provide a molecular basis for the development of new genome editing tools for a variety of applications. Moreover, we investigated the evolutionary history of certain Bifidobacterium strains through visualization of acquired spacer sequences and demonstrated how these hypervariable CRISPR regions can be used as genotyping markers. This extensive characterization will enable the repurposing of endogenous CRISPR-Cas systems in Bifidobacteria for genome engineering, transcriptional regulation, genotyping, and screening of rare variants.

scholarly journals Cornual pregnancy-an unusual site of pregnancy: a case report and literature review

2019 ◽  
Vol 10 (1) ◽  
pp. 64-67
Author(s):  
Tanzeem S Chowdhury ◽  
Homaira Hasan ◽  
TA Chowdhury
Keyword(s):  
Ectopic Pregnancy ◽  
Uterine Cavity ◽  
Uterine Wall ◽  
Unusual Presentation ◽  
Cornual Pregnancy ◽  
Diagnostic Challenge ◽  
Unusual Site ◽  
Rare Type ◽  
Interstitial Pregnancy ◽  
Gestational Sac

Ectopic pregnancy is a condition where gestational sac is located outside the uterine cavity. Cornual pregnancy, also known as interstitial pregnancy, is a rare type of ectopic pregnancy that develops in the interstitial portion of the fallopian tube and invades through the uterine wall. It poses great diagnostic challenge because of its unusual presentation and late diagnosis. Cornual pregnancy, if not diagnosed early, may present with massive and uncontrollable bleeding even leading to maternal death. We hereby report an unusual presentation of cornual pregnancy which was diagnosed and subsequently managed successfully. Birdem Med J 2020; 10(1): 64-67

Sign in / Sign up

Export Citation Format

Share Document