BRAF mutation is unusual in chronic lymphocytic thyroiditis-associated papillary thyroid carcinomas and absent in non-neoplastic nuclear atypia of thyroiditis.

PubMed

Sargent, Rachel; LiVolsi, Virginia; Murphy, Justin; Mantha, Geeta; Hunt, Jennifer L

2006-01-01

Chronic lymphocytic thyroiditis (CLT) has an epidemiological relationship to papillary thyroid carcinoma (PTC). The follicular epithelium in CLT can be markedly atypical, with cytologic changes ranging from oncocytic morphology to clearing and overlapping. At the molecular level, the association between CLT and PTC is more controversial. In order to further characterize the molecular changes in CLT, this study examined the BRAF gene in 27 patient samples with CLT and without carcinoma and 28 samples with CLT and carcinoma (12 conventional papillary carcinomas, 13 follicular variants, and 3 tall cell variants). Microdissection, PCR, and sequencing of exon 15 of the BRAF gene were performed. BRAF mutations were uncommon in the cases studied with only two microscopic and two clinically sized PTCs had BRAF mutations (14%). There was no evidence of BRAF mutation in any of the areas with atypical follicular epithelium in CLT. These data suggest that BRAF is a less frequent mechanism of tumorigenesis in a background of CLT and that BRAF mutation is not present in the atypical follicular epithelium of CLT.

Expanding the histologic spectrum of mucinous tubular and spindle cell carcinoma of the kidney.

PubMed

Fine, Samson W; Argani, Pedram; DeMarzo, Angelo M; Delahunt, Brett; Sebo, Thomas J; Reuter, Victor E; Epstein, Jonathan I

2006-12-01

Mucinous tubular and spindle cell carcinomas (MTSCs) are polymorphic neoplasms characterized by small, elongated tubules lined by cuboidal cells and/or cords of spindled cells separated by pale mucinous stroma. Nonclassic morphologic variants and features of MTSC have not been well studied. We identified 17 previously unreported MTSCs from Surgical Pathology and consultative files of the authors and their respective institutions and studied their morphologic features. A total of 10/17 cases were considered "classic," as described above, with 5/10 showing at least focal (20% to 50%) tubular predominance without apparent mucinous matrix. Alcian blue staining revealed abundant (>50%) mucin in all classic cases. Seven of 17 MTSCs were classified as "mucin-poor," with little to no extracellular mucin appreciable by hematoxylin and eosin. Four of these cases showed equal tubular and spindled morphology, 2 cases showed spindle cell predominance (70%; 95%), and 1 case showed tubular predominance (90%). In 5/7 mucin-poor cases, staining for Alcian blue revealed scant (<10%) mucin in cellular areas with the other 2 cases having 30% mucin. Unusual histologic features identified in the 17 cases were: foamy macrophages (n=8), papillations/well formed papillae (n=6/n=1), focal clear cells in tubules (n=3), necrosis (n=3), oncocytic tubules (n=2; 40%, 5%), numerous small vacuoles (n=2), heterotopic bone (n=1), psammomatous calcification (n=1), and nodular growth with lymphocytic cuffing (n=1). An exceptional case contained a well-circumscribed, HMB45-positive angiomyolipoma within the MTSC. MTSCs may be "mucin-poor" and show a marked predominance of either of its principal morphologic components, which coupled with the presence of other unusual features such as clear cells, papillations, foamy macrophages, and necrosis, may mimic other forms of renal cell carcinoma. Pathologists must be aware of the spectrum of histologic findings within MTSCs to ensure their accurate diagnosis.

Typing Discrepancy Between Phenotypic and Molecular Characterization Revealing an Emerging Biovar 9 Variant of Smooth Phage-Resistant B. abortus Strain 8416 in China.

PubMed

Kang, Yao-Xia; Li, Xu-Ming; Piao, Dong-Ri; Tian, Guo-Zhong; Jiang, Hai; Jia, En-Hou; Lin, Liang; Cui, Bu-Yun; Chang, Yung-Fu; Guo, Xiao-Kui; Zhu, Yong-Zhang

2015-01-01

A newly isolated smooth colony morphology phage-resistant strain 8416 isolated from a 45-year-old cattle farm cleaner with clinical features of brucellosis in China was reported. The most unusual phenotype was its resistance to two Brucella phages Tbilisi and Weybridge, but sensitive to Berkeley 2, a pattern similar to that of Brucella melitensis biovar 1. VITEK 2 biochemical identification system found that both strain 8416 and B. melitensis strains shared positive ILATk, but negative in other B. abortus strains. However, routine biochemical and phenotypic characteristics of strain 8416 were most similar to that of B. abortus biovar 9 except CO2 requirement. In addition, multiple PCR molecular typing assays including AMOS-PCR, B. abortus special PCR (B-ab PCR) and a novel sub-biovar typing PCR, indicated that strain 8416 may belong to either biovar 3b or 9 of B. abortus. Surprisingly, further MLVA typing results showed that strain 8416 was most closely related to B. abortus biovar 3 in the Brucella MLVA database, primarily differing in 4 out of 16 screened loci. Therefore, due to the unusual discrepancy between phenotypic (biochemical reactions and particular phage lysis profile) and molecular typing characteristics, strain 8416 could not be exactly classified to any of the existing B. abortus biovars and might be a new variant of B. abortus biovar 9. The present study also indicates that the present phage typing scheme for Brucella sp. is subject to variation and the routine Brucella biovar typing needs further studies.

Self-accommodation of B19' martensite in Ti-Ni shape memory alloys - Part I. Morphological and crystallographic studies of the variant selection rule

NASA Astrophysics Data System (ADS)

Nishida, M.; Nishiura, T.; Kawano, H.; Inamura, T.

2012-06-01

The self-accommodation morphologies of B19‧ martensite in Ti-Ni alloys have been investigated by optical microscopy, scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Twelve pairs of minimum units consisting of two habit plane variants (HPVs) with V-shaped morphology connected to a ? B19‧ type I variant accommodation twin were observed. Three types of self-accommodation morphologies, based on the V-shaped minimum unit, developed around one of the {111}B2 traces, which were triangular, rhombic and hexangular and consisted of three, four and six HPVs, respectively. In addition, the variant selection rule and the number of possible HPV combinations in each of these self-accommodation morphologies are discussed.

Pemphigus vegetans: An unusual presentation

PubMed Central

Dhamija, Ashish; D’souza, Paschal; Meherda, Ashok; Kothiwala, Raj K.

2012-01-01

Pemphigus vegetans is a rare variant of pemphigus vulgaris that is characterized by vegetating lesions primarily in the flexures. We report a 45-year-old male patient with an unusual presentation of the disease. A careful analysis of the clinical and laboratory findings enabled us to reach a diagnosis and successfully treat the patient. PMID:23189253

MAML2 Rearrangements in Variant Forms of Mucoepidermoid Carcinoma: Ancillary Diagnostic Testing for the Ciliated and Warthin-like Variants.

PubMed

Bishop, Justin A; Cowan, Morgan L; Shum, Chung H; Westra, William H

2018-01-01

Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy. Recent studies have shown that most MECs harbor gene fusions involving MAML2-an alteration that appears to be specific for MEC, a finding that could be diagnostically useful. While most cases of MEC are histologically straightforward, uncommon variants can cause considerable diagnostic difficulty. We present 2 variants of MEC for which MAML2 studies were crucial in establishing a diagnosis: a previously undescribed ciliated variant, and the recently described Warthin-like variant. All cases of ciliated and Warthin-like MEC were retrieved from the archives of The Johns Hopkins Hospital. Break-apart fluorescence in situ hybridization for MAML2 was performed on all cases. One ciliated MEC and 6 Warthin-like MECs were identified. The ciliated MEC presented as a 4.6 cm cystic lymph node metastasis originating from the tongue base in a 47-year-old woman. The Warthin-like MECs presented as parotid masses ranging in size from 1.2 to 3.3 (mean, 2.7 cm) in 4 women and 2 men. The ciliated MEC consisted of macrocystic spaces punctuated by tubulopapillary proliferations of squamoid cells and ciliated columnar cells. The Warthin-like MECs were comprised of cystic spaces lined by multilayered oncocytic to squamoid cells surrounded by a circumscribed cuff of lymphoid tissue with germinal centers. In these cases, the Warthin-like areas dominated the histologic picture. Conventional MEC, when present, represented a minor tumor component. MAML2 rearrangements were identified in all cases. Warthin-like MEC, and now a ciliated form of MEC, are newly described variants of a common salivary gland carcinoma. Unfamiliarity with these novel forms, unanticipated cellular features (eg, cilia), and morphologic overlap with mundane benign processes (eg, developmental ciliated cysts, Warthin tumor) or other carcinomas (eg, ciliated human papillomavirus-related carcinoma) may render these variants susceptible to misdiagnosis. These unusual variants appear to consistently harbor MAML2 fusions-a finding that establishes a clear link to conventional MEC and provides a valuable adjunct in establishing the diagnosis.

T-cell/histiocyte-rich large B-cell lymphoma of stomach.

PubMed

Barut, Figen; Kandemir, Nilufer Onak; Gun, Banu Dogan; Ozdamar, Sukru Oguz

2016-07-01

T-cell/histiocyte-rich large B-cell lymphoma is an unusually encountered lymphoid neoplasm of stomach with aggressive course, and is an uncommon morphologic variant of diffuse large B-cell lymphoma. An ulcerated mass, 7x5x1 cm in size was observed within the gastrectomy specimen of a 76-year-old female patient. In cross sections, besides mature lymphoid cells displaying T-cell phenotype, a neoplastic formation composed of large, pleomorphic atypical lymphoid cells with, prominent nucleoli, vesicular nuclei and abundant eosinophilic cytoplasm displaying B-cell phenotype were observed. Meanwhile, histiocyte-like mononuclear cells and Reed-Sternberg-like multinuclear cells expressing CD68 and Mac387 were also observed. The diagnosis of the case was T cell/histiocyte-rich large B-cell lymphoma. This rarely encountered neoplasm should be kept in mind in the differential diagnosis of primary gastric lymphomas.

Kidney fibroxanthoma (malignant fibrous xanthoma): a rare tumor and an unusual cause of retroperitoneal hemorrhage.

PubMed

Witz, M; Bernheim, J; Dinbar, A; Griffel, B

1984-06-01

A case of kidney fibroxanthoma (malignant fibrous xanthoma, malignant variant of xanthogranuloma), a rare malignant neoplasm of kidney, is described. In addition to the typical histologic features of retroperitoneal xanthogranuloma, this tumor showed obvious pleomorphism and mitotic activity of the histiocytes. We present this case in view of the rarity of this neoplasm and the unusual presentation as massive retroperitoneal hemorrhage.

Morphology and protein molecular weight analysis from three variant of oil palm pollen; Dura, Pisifera, and Tenera

NASA Astrophysics Data System (ADS)

Priambodo, R.; Witarto, A. B.; Salamah, A.; Setiorini, Triyono, D.; Bowolaksono, A.

2017-07-01

Oil palm is a plant that widely cultivated in Indonesia, with an area of about 11 million hectares in 2014. There are three main variants that most cultivated; Dura, Pisifera, and Tenera. Oil palm pollen was spread through the wind. The very wide area of oil palm plantation and those characteristics of oil palm pollen dispersion makes oil palm pollen may give negative effect to the people around plantation, such as an allergy. The research on the morphology and protein characters of the oil palm pollen from three variants has not done yet. This research aims to observe the morphology and protein character from three variants of oil palm pollen. The study begins with the pollen collection from three variants of oil palm. Oil palm pollen was observed using the light and scanning electron microscope. Oil palm pollen protein was extracted and the molecular weight of these proteins was analyzed. The result of this research was the morphology character from three variants of oil palm pollen have successfully been observed. Those three variant of oil palm have no differences structures; triangular shaped with round edge, tricolpate with connected colpus aperture, psilate exine ornamentation at the front side and peripheral side, while at the back side has microreticulate exine ornamentation. Three variants of oil palm pollen protein show the same characteristics. The molecular weight of the protein was ranged from 10-00 KDa. The information can be useful for the next research to figure out component of proteins inside the oil palm pollen.

Endodontic management of middle mesial canal of the mandibular molar

PubMed Central

Sundaresh, K J; Srinivasan, Raghu; Mallikarjuna, Rachappa; Rajalbandi, Sandeep

2013-01-01

Thorough knowledge of root canal morphology and unusual anatomy of the tooth is critical for successful endodontic treatment. Although the most common configuration is two roots and three root canals, mandibular molars might have many different combinations. In the literature, it is less described about three mesial canals and two distal canals in mandibular second molars, indicating a rare anatomical configuration. A case of unusual root canal morphology is presented to demonstrate anatomical variations in mandibular molars. Endodontic therapy was performed in a mandibular second molar with five separate canals, three mesial and two distal. This report points out the importance of looking for additional canals and unusual canal morphology, because knowledge of their existence might occasionally enable clinicians to treat a case successfully that otherwise might have ended in failure. In conclusion, every attempt should be made to find and treat all root canals of a tooth. PMID:23349182

A New Anatomic Variation: Coexistence of Both Dandy-Walker Variant and Ophthalmic Artery Originating From Contralateral Internal Carotid Artery.

PubMed

Ogul, Hayri; Havan, Nuri; Gedikli, Yusuf; Pirimoglu, Berhan; Kantarci, Mecit

2016-06-01

The authors report on 1 patient of variant origin of right ophthalmic artery (OA) from ophthalmic segment of the left internal carotid artery. A 41-year-old man was performed magnetic resonance (MR) imaging and MR angiography. Cerebral MR imaging revealed a Dandy-Walker variant. In MR angiography the authors observed this unusual variant of origin of OA and a complete occlusion of right internal carotid artery. To the authors' knowledge, this is the first patient who has coincidence of both Dandy-Walker variant and origin of OA from contralateral internal carotid artery. Careful observation of MR angiography images with maximum intensity projection is very important for detecting rare vascular variations.

Theoretical foundations of spatially-variant mathematical morphology part ii: gray-level images.

PubMed

Bouaynaya, Nidhal; Schonfeld, Dan

2008-05-01

In this paper, we develop a spatially-variant (SV) mathematical morphology theory for gray-level signals and images in the Euclidean space. The proposed theory preserves the geometrical concept of the structuring function, which provides the foundation of classical morphology and is essential in signal and image processing applications. We define the basic SV gray-level morphological operators (i.e., SV gray-level erosion, dilation, opening, and closing) and investigate their properties. We demonstrate the ubiquity of SV gray-level morphological systems by deriving a kernel representation for a large class of systems, called V-systems, in terms of the basic SV graylevel morphological operators. A V-system is defined to be a gray-level operator, which is invariant under gray-level (vertical) translations. Particular attention is focused on the class of SV flat gray-level operators. The kernel representation for increasing V-systems is a generalization of Maragos' kernel representation for increasing and translation-invariant function-processing systems. A representation of V-systems in terms of their kernel elements is established for increasing and upper-semi-continuous V-systems. This representation unifies a large class of spatially-variant linear and non-linear systems under the same mathematical framework. Finally, simulation results show the potential power of the general theory of gray-level spatially-variant mathematical morphology in several image analysis and computer vision applications.

Identification of new TSGA10 transcript variants in human testis with conserved regulatory RNA elements in 5'untranslated region and distinct expression in breast cancer.

PubMed

Salehipour, Pouya; Nematzadeh, Mahsa; Mobasheri, Maryam Beigom; Afsharpad, Mandana; Mansouri, Kamran; Modarressi, Mohammad Hossein

2017-09-01

Testis specific gene antigen 10 (TSGA10) is a cancer testis antigen involved in the process of spermatogenesis. TSGA10 could also play an important role in the inhibition of angiogenesis by preventing nuclear localization of HIF-1α. Although it has been shown that TSGA10 messenger RNA (mRNA) is mainly expressed in testis and some tumors, the transcription pattern and regulatory mechanisms of this gene remain largely unknown. Here, we report that human TSGA10 comprises at least 22 exons and generates four different transcript variants. It was identified that using two distinct promoters and splicing of exons 4 and 7 produced these transcript variants, which have the same coding sequence, but the sequence of 5'untanslated region (5'UTR) is different between them. This is significant because conserved regulatory RNA elements like upstream open reading frame (uORF) and putative internal ribosome entry site (IRES) were found in this region which have different combinations in each transcript variant and it may influence translational efficiency of them in normal or unusual environmental conditions like hypoxia. To indicate the transcription pattern of TSGA10 in breast cancer, expression of identified transcript variants was analyzed in 62 breast cancer samples. We found that TSGA10 tends to express variants with shorter 5'UTR and fewer uORF elements in breast cancer tissues. Our study demonstrates for the first time the expression of different TSGA10 transcript variants in testis and breast cancer tissues and provides a first clue to a role of TSGA10 5'UTR in regulation of translation in unusual environmental conditions like hypoxia. Copyright © 2017. Published by Elsevier B.V.

Complete duplication of bladder and urethra in a sagittal plane in a male infant: case report and literature review.

PubMed

Coker, Alisa M; Allshouse, Michael J; Koyle, Martin A

2008-08-01

Complete duplication of the bladder and urethra is a rare entity. It may occur in the coronal and sagittal planes, and is often associated with other organ system anomalies, in particular of the gastrointestinal tract. We report an unusual variant of sagittal duplication of the bladder, in a male, associated with rudimentary hindgut duplication, and review the literature pertaining to this unusual anomaly.

Structural Characterization of the Histone Variant macroH2A

PubMed Central

Chakravarthy, Srinivas; Gundimella, Sampath Kumar Y.; Caron, Cecile; Perche, Pierre-Yves; Pehrson, John R.; Khochbin, Saadi; Luger, Karolin

2005-01-01

macroH2A is an H2A variant with a highly unusual structural organization. It has a C-terminal domain connected to the N-terminal histone domain by a linker. Crystallographic and biochemical studies show that changes in the L1 loop in the histone fold region of macroH2A impact the structure and potentially the function of nucleosomes. The 1.6-Å X-ray structure of the nonhistone region reveals an α/β fold which has previously been found in a functionally diverse group of proteins. This region associates with histone deacetylases and affects the acetylation status of nucleosomes containing macroH2A. Thus, the unusual domain structure of macroH2A integrates independent functions that are instrumental in establishing a structurally and functionally unique chromatin domain. PMID:16107708

Expanding the genetic heterogeneity of intellectual disability.

PubMed

Anazi, Shams; Maddirevula, Sateesh; Salpietro, Vincenzo; Asi, Yasmine T; Alsahli, Saud; Alhashem, Amal; Shamseldin, Hanan E; AlZahrani, Fatema; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous M; Hashem, Mais; Alhashmi, Nadia; Al Murshedi, Fathiya; Al Kindy, Adila; Alshaer, Ahmad; Rumayyan, Ahmed; Al Tala, Saeed; Kurdi, Wesam; Alsaman, Abdulaziz; Alasmari, Ali; Banu, Selina; Sultan, Tipu; Saleh, Mohammed M; Alkuraya, Hisham; Salih, Mustafa A; Aldhalaan, Hesham; Ben-Omran, Tawfeg; Al Musafri, Fatima; Ali, Rehab; Suleiman, Jehan; Tabarki, Brahim; El-Hattab, Ayman W; Bupp, Caleb; Alfadhel, Majid; Al Tassan, Nada; Monies, Dorota; Arold, Stefan T; Abouelhoda, Mohamed; Lashley, Tammaryn; Houlden, Henry; Faqeih, Eissa; Alkuraya, Fowzan S

2017-11-01

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent years thanks to the implementation of genomic sequencing techniques. In this study, we describe the phenotypic and genetic findings of 68 families (105 patients) all with novel ID-related variants. In addition to established ID genes, including ones for which we describe unusual mutational mechanism, some of these variants represent the first confirmatory disease-gene links following previous reports (TRAK1, GTF3C3, SPTBN4 and NKX6-2), some of which were based on single families. Furthermore, we describe novel variants in 14 genes that we propose as novel candidates (ANKHD1, ASTN2, ATP13A1, FMO4, MADD, MFSD11, NCKAP1, NFASC, PCDHGA10, PPP1R21, SLC12A2, SLK, STK32C and ZFAT). We highlight MADD and PCDHGA10 as particularly compelling candidates in which we identified biallelic likely deleterious variants in two independent ID families each. We also highlight NCKAP1 as another compelling candidate in a large family with autosomal dominant mild intellectual disability that fully segregates with a heterozygous truncating variant. The candidacy of NCKAP1 is further supported by its biological function, and our demonstration of relevant expression in human brain. Our study expands the locus and allelic heterogeneity of ID and demonstrates the power of positional mapping to reveal unusual mutational mechanisms.

[A mandibular second molar with three mesial roots: report of one case].

PubMed

Zhang, Ping

2010-02-01

A case of unusual root canal morphology was presented to demonstrate anatomic variations in mandibular second molars. This case report presented the endodontic therapy of a mandibular second molar with three canals in the mesial root. A mesial middle canal was found between the mesiobuccal and mesiolingual canals. This report indicated the importance of looking for additional canals and unusual canal morphology, because knowledge of their existence might occasionally enable clinicians to treat a case successfully that otherwise to fail.

Morphological, immunohistochemical, and chromosomal analysis of multicystic chromophobe renal cell carcinoma, an architecturally unusual challenging variant.

PubMed

Foix, Maria Pané; Dunatov, Ana; Martinek, Petr; Mundó, Enric Condom; Suster, Saul; Sperga, Maris; Lopez, Jose I; Ulamec, Monika; Bulimbasic, Stela; Montiel, Delia Perez; Alaghehbandan, Reza; Peckova, Kvetoslava; Pivovarcikova, Krystina; Ondrej, Daum; Rotterova, Pavla; Skenderi, Faruk; Prochazkova, Kristyna; Dusek, Martin; Hora, Milan; Michal, Michal; Hes, Ondrej

2016-12-01

Chromophobe renal cell carcinoma (ChRCC) is typically composed of large leaf-like cells and smaller eosinophilic cells arranged in a solid-alveolar pattern. Eosinophilic, adenomatoid/pigmented, or neuroendocrine variants have also been described. We collected 10 cases of ChRCC with a distinct multicystic pattern out of 733 ChRCCs from our registry, and subsequently analyzed these by morphology, immunohistochemistry, and array comparative genomic hybridization. Of the 10 patients, 6 were males with an age range of 50-89 years (mean 68, median 69). Tumor size ranged between 1.2 and 20 cm (mean 5.32, median 3). Clinical follow-up was available for seven patients, ranging 1-19 years (mean 7.2, median 2.5). No aggressive behavior was documented. We observed two growth patterns, which were similar in all tumors: (1) variable-sized cysts, resembling multilocular cystic neoplasm of low malignant potential and (2) compressed cystic and tubular pattern with slit-like spaces. Raisinoid nuclei were consistently present while necrosis was absent in all cases. Half of the cases showed eosinophilic/oncocytic cytology, deposits of pigment (lipochrome) and microcalcifications. The other half was composed of pale or mixed cell populations. Immunostains for epithelial membrane antigen (EMA), CK7, OSCAR, CD117, parvalbumin, MIA, and Pax 8 were positive in all tumors while negative for vimentin, TFE3, CANH 9, HMB45, cathepsin K, and AMACR. Ki67 immunostain was positive in up to 1 % of neoplastic cells. Molecular genetic examination revealed multiple chromosomal losses in two fifths analyzable tumors, while three cases showed no chromosomal numerical aberrations. ChRCC are rarely arranged in a prominent multicystic pattern, which is probably an extreme form of the microcystic adenomatoid pigmented variant of ChRCC. The spectrum of tumors entering the differential diagnosis of ChRCC is quite different from that of conventional ChRCC. The immunophenotype of ChRCC is identical with that of conventional ChRCC. Chromosomal numerical aberration pattern was variable; no chromosomal numerical aberrations were found in three cases. All the cases in this series have shown an indolent and non-aggressive behavior.

Morphology and formation mechanism in precipitation of calcite induced by Curvibacter lanceolatus strain HJ-1

NASA Astrophysics Data System (ADS)

Zhang, Chonghong; Li, Fuchun; Lv, Jiejie

2017-11-01

Precipitation of calcium carbobate induced by microbial activities is common occurrence in controlled solution, but the formation mechanism and morphology in precipitation of calcite in solution systems is unclear, and the role of microbes is disputed. Here, culture experiment was performed for 50 days using the Curvibacter lanceolatus strain HJ-1 in a M2 culture medium, and the phase composition and morphology of the precipitates were characterized by the X-ray diffraction (XRD), Fourier transform infrared (FT-IR), and scanning electron microscopy (SEM) techniques. We show that the precipitation processes in our experiment lead to unusual morphologies of crystals corresponding to different growth stages, and the morphologies of the precipitated crystal aggregates ranging from the main rod-, cross-, star-, cauliflower-like morphologies to spherulitic structure. The complex and unusual morphologies of the precipitated calcite by strain HJ-1 may provide a reference point for better understanding the biomineralization mechanism of calcite, moreover, morphological transition of minerals revealed that the multi-ply crystals-aggregation mechanism for calcite growth in crystallisation media.

Complexity in an Unexpected Place: Quantities in Selected Acquisition Reports

DTIC Science & Technology

2017-12-01

Chinook helicopters produced, there are actually four different variants of CH-47 helicopters within the current Army program. For each of these...variants, units produced 10 years ago are significantly different from new units coming off the line today. The CH-47 program is not unusual in showing...whereas in the budget submissions these are scattered throughout different exhibits and Services. Each SAR also reports all funding in both base

A Rare Presentation of Isolated CNS Posttransplantation Lymphoproliferative Disorder

PubMed Central

Smith, Casey; Streicher, Andrew; Magnuson, Allison; Newman, Susan; Bertoli, Robert

2017-01-01

Posttransplantation lymphoproliferative disorder (PTLD) is a recognized and extremely morbid complication of solid organ transplantation, but central nervous system involvement, particularly in isolation, is rare. There are no standardized treatment strategies for PTLD, though commonly used strategies include reduction of immunosuppression, chemotherapy, rituximab, radiation, and surgery. We present a case of an unusual morphologic variant of primary central nervous system PTLD with successful response to rituximab and cranial radiation. A 69-year-old Asian male, who underwent postrenal transplant nine years earlier, presented with a one-month history of new onset seizure activity. His evaluation revealed multiple brain lesions on magnetic resonance imaging (MRI), as well as serologic and cerebrospinal fluid studies which were positive for Epstein-Barr Virus (EBV) infection. Ultimately, he underwent craniotomy with tissue biopsy with the final pathology report showing posttransplant lymphoproliferative disorder, polymorphic type. The patient was managed with reduction in immunosuppression, rituximab therapy, and cranial radiation treatments. He had demonstrated marked improvement in his neurologic function and was ultimately discharged to inpatient rehabilitation facility. PMID:28116196

A Rare Presentation of Isolated CNS Posttransplantation Lymphoproliferative Disorder.

PubMed

Morris, Jaime; Smith, Casey; Streicher, Andrew; Magnuson, Allison; Newman, Susan; Bertoli, Robert

2017-01-01

Posttransplantation lymphoproliferative disorder (PTLD) is a recognized and extremely morbid complication of solid organ transplantation, but central nervous system involvement, particularly in isolation, is rare. There are no standardized treatment strategies for PTLD, though commonly used strategies include reduction of immunosuppression, chemotherapy, rituximab, radiation, and surgery. We present a case of an unusual morphologic variant of primary central nervous system PTLD with successful response to rituximab and cranial radiation. A 69-year-old Asian male, who underwent postrenal transplant nine years earlier, presented with a one-month history of new onset seizure activity. His evaluation revealed multiple brain lesions on magnetic resonance imaging (MRI), as well as serologic and cerebrospinal fluid studies which were positive for Epstein-Barr Virus (EBV) infection. Ultimately, he underwent craniotomy with tissue biopsy with the final pathology report showing posttransplant lymphoproliferative disorder, polymorphic type. The patient was managed with reduction in immunosuppression, rituximab therapy, and cranial radiation treatments. He had demonstrated marked improvement in his neurologic function and was ultimately discharged to inpatient rehabilitation facility.

An unusual case of Miller Fisher syndrome presenting with proptosis and chemosis

PubMed Central

Waung, Maggie W.; Singer, Mike A.

2012-01-01

Miller Fisher syndrome (MFS), a rare variant of Guillan-Barré syndrome, is characterized by ophthalmoplegia, ataxia, and areflexia. In addition to this classic triad, symptoms may include bulbar palsy, weakness, and sensory loss. The anti-GQ1b IgG antibody is a sensitive and specific marker for MFS; it is found in more than 90% of affected patients. We describe an unusual case of MFS that presented with dramatic bilateral proptosis and chemosis. PMID:22499110

Crystal Structures of Phosphite Dehydrogenase Provide Insights into Nicotinamide Cofactor Regeneration

PubMed Central

Zou, Yaozhong; Zhang, Houjin; Brunzelle, Joseph S.; Johannes, Tyler W.; Woodyer, Ryan; Hung, John E.; Nair, Nikhil; van der Donk, Wilfred A.; Zhao, Huimin; Nair, Satish K.

2015-01-01

The enzyme phosphite dehydrogenase (PTDH) catalyzes the NAD+-dependent conversion of phosphite to phosphate and represents the first biological catalyst that has been characterized to carry out the enzymatic oxidation of phosphorus. Despite over a decade’s worth of investigation into both the mechanism of its unusual reaction, as well as its utility in cofactor regeneration, there has been a lack of any structural data on PTDH. Here we present the co-crystal structure of an engineered thermostable variant of PTDH bound to NAD+ (1.7 Å resolution), as well as four other co-crystal structures of thermostable PTDH and its variants with different ligands (all between 1.85 – 2.3 Å resolution). These structures provide a molecular framework for understanding prior mutational analysis, and point to additional residues, located in the active site, that may contribute to the enzymatic activity of this highly unusual catalyst. PMID:22564171

Crystal Structures of Phosphite Dehydrogenase Provide Insights into Nicotinamide Cofactor Regeneration

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zou, Yaozhong; Zhang, Houjin; Brunzelle, Joseph S.

The enzyme phosphite dehydrogenase (PTDH) catalyzes the NAD{sup +}-dependent conversion of phosphite to phosphate and represents the first biological catalyst that has been shown to conduct the enzymatic oxidation of phosphorus. Despite investigation for more than a decade into both the mechanism of its unusual reaction and its utility in cofactor regeneration, there has been a lack of any structural data for PTDH. Here we present the cocrystal structure of an engineered thermostable variant of PTDH bound to NAD{sup +} (1.7 {angstrom} resolution), as well as four other cocrystal structures of thermostable PTDH and its variants with different ligands (allmore » between 1.85 and 2.3 {angstrom} resolution). These structures provide a molecular framework for understanding prior mutational analysis and point to additional residues, located in the active site, that may contribute to the enzymatic activity of this highly unusual catalyst.« less

A dermatofibrosarcoma protuberans-like tumor with COL1A1 copy number gain in the absence of t(17;22)

PubMed Central

Saab, Jad; Rosenthal, Ian M.; Wang, Lu; Busam, Klaus J.; Nehal, Kishwer S.; Dickson, Mark; Hameed, Meera; Hollmann, Travis J.

2017-01-01

A 57 year-old woman presented with a three year history of a progressive firm plaque on the right cheek. Skin biopsies revealed a bland, storiform, spindle cell proliferation involving the deep dermis and subcutaneous fat. By immunohistochemistry the tumor cells were diffusely positive for CD34 and caldesmon with multifocal reactivity for EMA and focal, weak staining for SMA. Retinoblastoma protein expression was not detectable in tumor cells by immunohistochemistry. An interphase FISH analysis for PDGFB gene rearrangement was negative. A SNP-array study detected 1) a gain of chromosome segment 17q21.33-q25.3 which overlapped the entire COL1A1 gene with a breakpoint at 17q21.33, approximately 250 Kb centromeric to the 3′ end of COL1A1 gene, 2) several segmental gains on chromosome 11 and 3) an RB1 gene locus with normal copy number and allele frequency. While the current case resembles DFSP, it is unique in that it demonstrates a copy number gain of chromosome 17q in the absence of fusion of COL1A1 and PDGFB genes and an unusual immunohistochemical staining profile. The morphologic and molecular findings suggest a novel molecular variant of DFSP not detectable with standard FISH for PDGFB rearrangement. This variant appears to respond to imatinib after 9 months of follow-up. PMID:27984233

Primary cutaneous adenosquamous carcinoma of the penis: the first characterization of HPV status in this rare and diagnostically challenging entity with review of glandular carcinomas of the penis.

PubMed

Rush, P S; Shiau, J M; Hibler, B P; Longley, B J; Downs, T M; Bennett, D D

2016-12-01

Glandular and pseudoglandular tumors of the penile skin are extremely uncommon and can present diagnostic challenges. Primary adenosquamous carcinoma of the penis is an extremely rare tumor, composed of distinct areas of malignant squamous and glandular cells, making it a diagnostically challenging entity. The World Health Organization (WHO) recognizes several subtypes of squamous cell carcinoma (SCC), each with its own distinctive pathologic appearance, clinical associations and prognosis. Among these variants is the exceedingly uncommon adenosquamous carcinoma (ASC), representing 1%-2% of all SCC of the penis. Recent large studies have interrogated the presence of human papillomavirus (HPV) in malignant penile tumors and have shown specific morphologic patterns and clinical presentations to associate with HPV status. However, given the rarity of the adenosquamous variant of SCC, it has largely been excluded from these studies. The glandular components of these lesions can present a confusing appearance, particularly when a large tumor is represented on a small biopsy. Here we describe a difficult histologic presentation of this rare tumor, with the first published characterization of the HPV status of this subtype. This case represents a distinctly unusual case of metastatic HPV-positive primary cutaneous adenosquamous carcinoma of the penis. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Spatially variant morphological restoration and skeleton representation.

PubMed

Bouaynaya, Nidhal; Charif-Chefchaouni, Mohammed; Schonfeld, Dan

2006-11-01

The theory of spatially variant (SV) mathematical morphology is used to extend and analyze two important image processing applications: morphological image restoration and skeleton representation of binary images. For morphological image restoration, we propose the SV alternating sequential filters and SV median filters. We establish the relation of SV median filters to the basic SV morphological operators (i.e., SV erosions and SV dilations). For skeleton representation, we present a general framework for the SV morphological skeleton representation of binary images. We study the properties of the SV morphological skeleton representation and derive conditions for its invertibility. We also develop an algorithm for the implementation of the SV morphological skeleton representation of binary images. The latter algorithm is based on the optimal construction of the SV structuring element mapping designed to minimize the cardinality of the SV morphological skeleton representation. Experimental results show the dramatic improvement in the performance of the SV morphological restoration and SV morphological skeleton representation algorithms in comparison to their translation-invariant counterparts.

Spatial distributions of Pseudomonas fluorescens colony variants in mixed-culture biofilms.

PubMed

Workentine, Matthew L; Wang, Siyuan; Ceri, Howard; Turner, Raymond J

2013-07-28

The emergence of colony morphology variants in structured environments is being recognized as important to both niche specialization and stress tolerance. Pseudomonas fluorescens demonstrates diversity in both its natural environment, the rhizosphere, and in laboratory grown biofilms. Sub-populations of these variants within a biofilm have been suggested as important contributors to antimicrobial stress tolerance given their altered susceptibility to various agents. As such it is of interest to determine how these variants might be distributed in the biofilm environment. Here we present an analysis of the spatial distribution of Pseudomonas fluorescens colony morphology variants in mixed-culture biofilms with the wildtype phenotype. These findings reveal that two variant colony morphotypes demonstrate a significant growth advantage over the wildtype morphotype in the biofilm environment. The two variant morphotypes out-grew the wildtype across the entire biofilm and this occurred within 24 h and was maintained through to 96 h. This competitive advantage was not observed in homogeneous broth culture. The significant advantage that the variants demonstrate in biofilm colonization over the wildtype denotes the importance of this phenotype in structured environments.

Unusual and Interesting Adverse Cutaneous Drug Reactions.

PubMed

Masatkar, Vaishali; Nagure, Ashok; Gupta, Lalit Kumar

2018-01-01

Any drug can cause any rash! Cutaneous adverse drug reactions (CADRs) are great mimickers and can be included in the differential diagnosis of any inflammatory dermatoses. Several drugs can cause rash of similar morphology and the same drug can cause rash of different morphology. While some common and specific drug reaction patterns are recognized easily by the clinicians, many a times unusual and interesting patterns can be induced by drug(s), thus leading to erroneous diagnosis and mistreatment. This review aims to familiarize clinicians with some rare, yet interesting patterns of CADR.

Unusual and Interesting Adverse Cutaneous Drug Reactions

PubMed Central

Masatkar, Vaishali; Nagure, Ashok; Gupta, Lalit Kumar

2018-01-01

Any drug can cause any rash! Cutaneous adverse drug reactions (CADRs) are great mimickers and can be included in the differential diagnosis of any inflammatory dermatoses. Several drugs can cause rash of similar morphology and the same drug can cause rash of different morphology. While some common and specific drug reaction patterns are recognized easily by the clinicians, many a times unusual and interesting patterns can be induced by drug(s), thus leading to erroneous diagnosis and mistreatment. This review aims to familiarize clinicians with some rare, yet interesting patterns of CADR. PMID:29692451

Characterization of self-generated variants in Pseudoalteromonas lipolytica biofilm with increased antifouling activities.

PubMed

Zeng, Zhenshun; Guo, Xing-Pan; Li, Baiyuan; Wang, Pengxia; Cai, Xingsheng; Tian, Xinpeng; Zhang, Si; Yang, Jin-Long; Wang, Xiaoxue

2015-12-01

Pseudoalteromonas is widespread in various marine environments, and most strains can affect invertebrate larval settlement and metamorphosis by forming biofilms. However, the impact and the molecular basis of population diversification occurring in Pseudoalteromonas biofilms are poorly understood. Here, we show that morphological diversification is prevalent in Pseudoalteromonas species during biofilm formation. Two types of genetic variants, wrinkled (frequency of 12±5%) and translucent (frequency of 5±3%), were found in Pseudoalteromonas lipolytica biofilms. The inducing activities of biofilms formed by the two variants on larval settlement and metamorphosis of the mussel Mytilus coruscus were significantly decreased, suggesting strong antifouling activities. Using whole-genome re-sequencing combined with genetic manipulation, two genes were identified to be responsible for the morphology alternations. A nonsense mutation in AT00_08765 led to a wrinkled morphology due to the overproduction of cellulose, whereas a point mutation in AT00_17125 led to a translucent morphology via a reduction in capsular polysaccharide production. Taken together, the results suggest that the microbial behavior on larval settlement and metamorphosis in marine environment could be affected by the self-generated variants generated during the formation of marine biofilms, thereby rendering potential application in biocontrol of marine biofouling.

Y-type urethral duplication: an unusual variant of a rare anomaly.

PubMed

Kumaravel, S; Senthilnathan, R; Sankkarabarathi, C; Bagdi, R K; Soundararajan, S; Prasad, N

2004-12-01

Urethral duplications are rare anomalies. We present a 3-year-old continent boy passing urine since birth per anus while voiding from penis. Micturating cystourethrogram, retrograde urethrogram and cystoscopy revealed a Y connection between the posterior urethra and anal canal. The accessory channel was excised by a perineal approach. Histopathology revealed that the tract was lined by transitional epithelium, proving that it was indeed a case of urethral duplication; hence, we suggest that all urethroanal fistulas are not variants of anorectal malformations. Certain of these fistulas should be considered as variants of Y-type urethral duplication even if the orthotopic urethra is normal.

Juvenile Granulosa Cell Tumour: Anaplastic Variant with Omental Deposits

PubMed Central

Rao, Anuradha C.K.; Monappa, Vidya

2016-01-01

Juvenile Granulosa Cell Tumour (JGCT) of ovary represents a small fraction of all primary ovarian malignancies. It is a subtype of granulosa cell tumour that is almost always found during the first three decades of life. Histologically, it differs from the typical adult type of granulosa cell tumour. It accounts for 5-15% of all granulosa cell tumours, majority being unilateral. Herein, we describe an unusual histopathological variant of JGCT with numerous large cystic spaces, anaplasia and focal syncytiotrophoblast like giant cells. PMID:27042471

A variant neglected Type IIIA dorsal dislocation of first metatarsophalangeal joint. A case report.

PubMed

Ainhoa, Toro-Ibarguen; Moreno-Beamud, Jose Alberto; Martínez-Leocadio, Miguel-Ángel; Candel-García, Luciano; Díaz-Martín, Andrés; Delgado-Díaz, Emilio

2015-03-01

We present a rare injury consisting of a neglected, irreducible, dislocation of the first metatarsophalangeal joint that was diagnosed 4 months after the injury. An open reduction was necessary from the beginning. Patient returned to full activity without pain or disability, so a good prognosis despite the delayed diagnosis was achieved. We are unaware of previous reports in the literature describing this unusual variant. Copyright © 2014 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

Unusual presentation of Warthin variant of Papillary thyroid carcinoma with lymph nodal metastases in a patient of Graves' disease.

PubMed

Padma, Subramanyam; Sundaram, Palaniswamy Shanmuga; Arun, B R

2015-01-01

Warthin-like Papillary thyroid carcinoma (WPTC) is a rare variant of papillary carcinoma of thyroid, PTC which derives its name by closely resembling Warthin's tumor of salivary gland. Hallmark histological feature of this variant is papillary folding lined by oncocytic neoplastic cells with clear nuclei and nuclear pseudoinclusions, accompanied by prominent lymphocytic infiltrate in the papillary stalks. It is thought to be one of those differentiated thyroid cancers with favorable prognosis. We report a case of Graves' disease with a cold nodule harboring WPTC with initial presentation of lymph nodal metastases. It is important to identify this peculiar variant of PTC as 5 to 10% of them undergo dedifferentiation and 30% have the lymph nodal metastases and extra thyroidal extension.

Maxillary and Mandibular First Premolars Showing Three-Cusp Pattern: An Unusual Presentation

PubMed Central

Kotrashetti, Vijayalakshmi; Nayak, Aarati; Patil, Viraj; Kulkarni, Mayuri; Somannavar, Pradeep

2013-01-01

Dental anatomy is the study of morphology of various teeth in human dentitions. The application of dental anatomy in clinical practice is important, and dentist should have a thorough knowledge regarding the morphology of the teeth. At times as a result of genetic variation, environmental factors, diet of an individual and race, variations in the morphology of the teeth can be observed. These variations have been extensively studied by the researcher in the field of anthropology to define a particular race. The most commonly observed changes include peg-shaped laterals, shovel-shaped incisors, and extra cusp on molar. Common variations documented with regard to maxillary and mandibular first premolars are the variation in the number of roots. But the variations with respect to crown morphology are few. We report a first documented unusual presentation of maxillary and mandibular first premolars with three-cusps pattern in a female patient. PMID:23476817

Unusual morphological features in a presumably Neolithic individual from Riparo della Rossa, Serra San Quirico (Ancona, Italy).

PubMed

D'Amore, G; Pacciani, E; Frederic, P; Caramella Crespi, V

2007-01-01

The present study describes human skeletal remains from Riparo della Rossa, a rock shelter in the Marche region (Central Italy). The remains consist of a cranial vault and a few non-articulated postcranial bones, possibly belonging to the same adult individual. As the cranial vault showed some morphological features that are unusual for a modern human (marked prominence of the supraorbital region, very prominent nasal bones and rather high thickness of the vault), an accurate anthropological analysis and quantification of the antiquity of the bones were required. The remains were dated with two different absolute dating methods, AMS (14)C and (235)U-(231)Pa non-destructive gamma-ray spectrometry (NDGRS), which produced discordant results: the uncalibrated (14)C dating produced 5690 +/- 80 BP for the cranial vault and 6110 +/- 80 BP for the clavicle; the NDGRS dating produced 10,000 +/- 3000 BP for the cranial vault. The sex discriminant morphological characters on the skull are not unequivocal, though the masculine ones appear more evident. The aims of the present paper are: to provide a morphological and metric description of the remains; to interpret their unusual morphological features; to attempt to attribute them to male or female sex and to one of the possible prehistoric cultural groups, according to dating results (Upper Palaeolithic, Mesolithic or Neolithic). The attribution was obtained by a Bayesian procedure taking into account the reliability of the combined information of morphological/metric features and absolute dating results. The results suggest that the Riparo della Rossa remains are best attributed to a male individual of the Neolithic age.

Integral-geometry characterization of photobiomodulation effects on retinal vessel morphology

PubMed Central

Barbosa, Marconi; Natoli, Riccardo; Valter, Kriztina; Provis, Jan; Maddess, Ted

2014-01-01

The morphological characterization of quasi-planar structures represented by gray-scale images is challenging when object identification is sub-optimal due to registration artifacts. We propose two alternative procedures that enhances object identification in the integral-geometry morphological image analysis (MIA) framework. The first variant streamlines the framework by introducing an active contours segmentation process whose time step is recycled as a multi-scale parameter. In the second variant, we used the refined object identification produced in the first variant to perform the standard MIA with exact dilation radius as multi-scale parameter. Using this enhanced MIA we quantify the extent of vaso-obliteration in oxygen-induced retinopathic vascular growth, the preventative effect (by photobiomodulation) of exposure during tissue development to near-infrared light (NIR, 670 nm), and the lack of adverse effects due to exposure to NIR light. PMID:25071966

Intraductal fibroadenoma under the nipple in an 11-year-old female.

PubMed

Hayano, Fumiko; Yamada, Sohsuke; Nakano, Shigeo; Watanabe, Teruo; Sasaguri, Yasuyuki; Koga, Sunao

2014-02-10

Recently, Chung et al. have reported the detailed clinicopathological features of an extremely rare case sharing similar histopathological characteristics with fibroadenomas, phyllodes tumours, intraductal papillomas or ductal adenomas, given the name of intraductal fibroadenomatosis, as an unusual variant of intracanalicular fibroadenoma. Herein we demonstrated a very unusual case of intraductal fibroadenoma of the breast with admixture of components of intracanalicular type fibroadenoma or benign phyllodes tumour and a smaller amount of intraductal papilloma, occupying the one duct and some adjacent ductules, presenting as a well-demarcated nodule.

Intraductal fibroadenoma under the nipple in an 11-year-old female

PubMed Central

2014-01-01

Recently, Chung et al. have reported the detailed clinicopathological features of an extremely rare case sharing similar histopathological characteristics with fibroadenomas, phyllodes tumours, intraductal papillomas or ductal adenomas, given the name of intraductal fibroadenomatosis, as an unusual variant of intracanalicular fibroadenoma. Herein we demonstrated a very unusual case of intraductal fibroadenoma of the breast with admixture of components of intracanalicular type fibroadenoma or benign phyllodes tumour and a smaller amount of intraductal papilloma, occupying the one duct and some adjacent ductules, presenting as a well-demarcated nodule. PMID:24512699

Contour variations of the body and tail of the pancreas: evaluation with MDCT.

PubMed

Omeri, Ahmad Khalid; Matsumoto, Shunro; Kiyonaga, Maki; Takaji, Ryo; Yamada, Yasunari; Kosen, Kazuhisa; Mori, Hiromu; Miyake, Hidetoshi

2017-06-01

To analyze morphology/contour variations of the pancreatic body and tail in subjects free of pancreatic disease. We retrospectively reviewed triple-phase, contrast-enhanced multi-detector row computed tomography (3P-CE-MDCT) examinations of 449 patients who had no clinical or CT evidence of pancreatic diseases. These patients were evaluated for morphologic/contour variations of the pancreatic body and tail, which were classified into two types. In Type I, a portion of normal pancreatic parenchyma protrudes >1 cm in maximum diameter from the body or tail (Ia-anteriorly; Ib-posteriorly). Type II was defined as a morphologic anomaly of the pancreatic tail (IIa-globular; IIb-lobulated; IIc-tapered; IId-bifid). Thirty-eight (8.5%) out of 449 patients had body or tail variations. Of those, 23 patients showed Type I variant: Ia in 21 and Ib in two. Type II variant was identified in 15 patients: IIa in eight, IIb in two, IIc in two and IId in three. Protrusion of the anterior surface of the normal pancreas, especially in the tail, was the most frequently occurring variant. Recognizing the types and subtypes of morphology/contour variations of the pancreatic body and tail could help prevent misinterpretation of normal variants as pancreatic tumors on unenhanced MDCT.

[Clinical and morphological variants of diverticular disease in colon].

PubMed

Levchenko, S V; Lazebnik, L B; Potapova, V B; Rogozina, V A

2013-01-01

Our own results of two-stage research are presented in the article. The first stage contains the retrospective analysis of 3682 X-ray examining of large bowel which were conducted in 2002-2004 to define the structure of colon disease and to determine gender differences. The second stage is prospective research which took place from 2003 to 2012 and 486 patients with diverticular disease were regularly observed. Following parameters were estimated: dynamics of complaints, life quality, clinical symptoms. Multiple X-ray and endoscopic examining were done with estimation of quantity and size of diverticula, changes of colon mucosa, comparison of X-ray and endoscopic methods in prognosis of complications. Two basic clinical morphological variants of diverticular disease (DD) of colon are made out as a result of our research. There are IBD-like and DD with ischemic component. The variants differ by pain characteristics, presence of accompanying diseases, life quality parameters and description of colon mucosa morphological research. We suppose that different ethiopathogenetic factors of development of both variants mentioned above influence the disease prognosis and selection of treatment.

An Unusual Foreign Body in the Urinary Bladder Mimicking a Parasitic Worm

PubMed Central

Schmitt, Bryan H.; Feder, Marc T.; Rokke, Denise L.; Moyer, Thomas P.

2012-01-01

We report an unusual case of a foreign body removed from the urinary bladder of a 63-year-old male which mimicked a parasitic worm. The foreign body was identified as an artificial fishing worm by morphological comparison to a similar commercially produced product and by infrared spectrum analysis. PMID:22535991

Morphology of a Wetland Stream

PubMed

Jurmu; Andrle

1997-11-01

/ Little attention has been paid to wetland stream morphology in the geomorphological and environmental literature, and in the recently expanding wetland reconstruction field, stream design has been based primarily on stream morphologies typical of nonwetland alluvial environments. Field investigation of a wetland reach of Roaring Brook, Stafford, Connecticut, USA, revealed several significant differences between the morphology of this stream and the typical morphology of nonwetland alluvial streams. Six morphological features of the study reach were examined: bankfull flow, meanders, pools and riffles, thalweg location, straight reaches, and cross-sectional shape. It was found that bankfull flow definitions originating from streams in nonwetland environments did not apply. Unusual features observed in the wetland reach include tight bends and a large axial wavelength to width ratio. A lengthy straight reach exists that exceeds what is typically found in nonwetland alluvial streams. The lack of convex bank point bars in the bends, a greater channel width at riffle locations, an unusual thalweg location, and small form ratios (a deep and narrow channel) were also differences identified. Further study is needed on wetland streams of various regions to determine if differences in morphology between alluvial and wetland environments can be applied in order to improve future designs of wetland channels.KEY WORDS: Stream morphology; Wetland restoration; Wetland creation; Bankfull; Pools and riffles; Meanders; Thalweg

Common normal variants of pediatric vertebral development that mimic fractures: a pictorial review from a national longitudinal bone health study

PubMed Central

Jaremko, Jacob Lester; Siminoski, Kerry; Firth, Gregory; Matzinger, Mary Ann; Shenouda, Nazih; Konji, Victor N.; Roth, Johannes; Sbrocchi, Anne Marie; Reed, Martin; O’Brien, Kathleen; Nadel, Helen; McKillop, Scott; Kloiber, Reinhard; Dubois, Josée; Coblentz, Craig; Charron, Martin; Ward, Leanne M.

2015-01-01

Children with glucocorticoid-treated illnesses are at risk for osteoporotic vertebral fractures and growing awareness has led to increased monitoring for these fractures. However scant literature describes developmental changes in vertebral morphology that can mimic fractures. The goal of this paper is to aid in distinguishing between normal variants and fractures. We illustrate differences using lateral spine radiographs obtained annually from children recruited to the Canada-wide STeroid-Associated Osteoporosis in the Pediatric Population (STOPP) observational study, in which 400 children with glucocorticoid-treated leukemia, rheumatic disorders, and nephrotic syndrome were enrolled near glucocorticoid initiation and followed prospectively for 6 years. Normal variants mimicking fractures exist in all regions of the spine and fall into two groups. The first group comprises variants mimicking pathological vertebral height loss, including not-yet-ossified vertebral apophyses superiorly and inferiorly which can lead to a vertebral shape easily over-interpreted as anterior wedge fracture, physiologic beaking, and spondylolisthesis associated with shortened posterior vertebral height. The second group includes variants mimicking other radiologic signs of fractures: anterior vertebral artery groove resembling an anterior buckle fracture, Cupid’s bow balloon disk morphology, Schmorl nodes mimicking concave endplate fractures, and parallax artifact resembling endplate interruption or biconcavity. If an unexpected vertebral body contour is detected, careful attention to its location, detailed morphology, and (if available) serial changes over time may clarify whether it is a fracture requiring change in management or simply a normal variant. Awareness of the variants described in this paper can improve accuracy in the diagnosis of pediatric vertebral fractures. PMID:25828359

Scleroderma and pseudo-scleroderma: uncommon presentations.

PubMed

Haustein, Uwe-Frithjof

2005-01-01

Scleroderma is characterized by major clinical symptoms, but a number of unrelated disease may mimic these features more or less completely. Even scleroderma itself sometimes presents in an unusual manner. This article deals with uncommon presentations of true scleroderma and its variants and pseudo -scleroderma diseases.

Renal Clear Cell Sarcoma - Anaplastic Variant: A Rare Entity.

PubMed

Walke, Vaishali Atmaram; Shende, Nitin Y; Kumbhalkar, D T

2017-01-01

Clear Cell Sarcoma of Kidney (CCSK) is known for its morphologic diversity, aggressive behaviour, tendency to recur and metastasis to bone. Amongst the various morphologic subtypes, anaplastic CCSK is associated with worse prognosis. Here, we report a case of this rare variant of CCSK. A five-year-old boy presented with history of lump and pain in abdomen since one week. The Computed Tomography (CT) scan revealed a large mass occupying the middle and inferior pole of right kidney. The clinical impression was Wilms tumour. Nephrectomy specimen was received and the diagnosis of CCSK anaplastic variant was offered only after excluding the differentials and after performing ancillary tests such as Immunohistochemistry (IHC). Thus, this case emphasizes the diagnostic challenges on morphology and the essential role of IHC in arriving at a definitive diagnosis, because failure to do so may deprive the child from optimal treatment.

Renal Clear Cell Sarcoma - Anaplastic Variant: A Rare Entity

PubMed Central

Shende, Nitin Y; Kumbhalkar, D T

2017-01-01

Clear Cell Sarcoma of Kidney (CCSK) is known for its morphologic diversity, aggressive behaviour, tendency to recur and metastasis to bone. Amongst the various morphologic subtypes, anaplastic CCSK is associated with worse prognosis. Here, we report a case of this rare variant of CCSK. A five-year-old boy presented with history of lump and pain in abdomen since one week. The Computed Tomography (CT) scan revealed a large mass occupying the middle and inferior pole of right kidney. The clinical impression was Wilms tumour. Nephrectomy specimen was received and the diagnosis of CCSK anaplastic variant was offered only after excluding the differentials and after performing ancillary tests such as Immunohistochemistry (IHC). Thus, this case emphasizes the diagnostic challenges on morphology and the essential role of IHC in arriving at a definitive diagnosis, because failure to do so may deprive the child from optimal treatment. PMID:28273978

A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child

PubMed Central

Manel, Véronique; Ville, Dorothée; Javouhey, Etienne; Bordet, Fabienne

2015-01-01

Guillain-Barré syndrome is a rare acute polyradiculoneuropathy. Several variants and unusual presentations have been described, particularly in pediatrics. In most cases, making an early diagnosis is challenging due to the treatments that consist in the rapid administration of intravenous immunoglobulin or plasma exchange. The authors present the case of a 7-year-old boy with an atypical and severe axonal Guillain-Barré syndrome, associated with Mycoplasma pneumonia. When he was admitted, febrile respiratory failure was the main focus, and then he presented signs of acute polyneuropathy with cranial nerve palsy and brief hyperreflexia. Mechanical ventilation was required for 48 days as well as 2 cycles of intravenous immunoglobulin. The authors describe all the medical challenges that the authors encountered. This case highlights the fact that respiratory distress can be the main clinical symptom in children. This delays the establishment of a correct diagnosis, even more so when neurological manifestations are abundant and unusual. PMID:28503595

Anterior spinal and bulbar artery supply to the posterior inferior cerebellar artery revealed by a ruptured aneurysm: case report.

PubMed

Gabrieli, Joseph; Sourour, Nader-Antoine; Chauvet, Dorian; Di Maria, Federico; Chiras, Jacques; Clarençon, Frédéric

2017-02-01

The posterior inferior cerebellar artery (PICA) is a vessel located between the intra- and extracranial circulation. The artery is characterized by a complex embryological development and numerous anatomical variants. The authors present a case of the PICA supplied by both a hypertrophic anterior spinal artery and a hypoplastic bulbar artery. This unusual arrangement somehow completes the list of previously published variants, and the spontaneous rupture of a related aneurysm confirmed the fragility of this network. The authors discuss anatomical and treatment considerations.

An unusual variant of Trichophyton tonsurans var. sulfureum.

PubMed

Padhye, A A; Weitzman, I; Domenech, E

1994-01-01

A fungus, recovered from a skin lesion of a patient, produced velvety to powdery, white to deep yellow colonies on Sabouraud glucose agar. Microscopically, it produced a large number of cylindric, smooth-walled, three- to eight-celled macroconidia but failed to produce microconidia on a variety of nutritional media such as rice grains, cornmeal dextrose, potato dextrose, Sabouraud glucose, oatmeal and lactrimel agars. It hydrolysed urea in 7 days, perforated hair in vitro and required thiamine for growth. This isolate represents an atypical variant of Trichophyton tonsurans var. sufureum subvar. perforans.

Aetiology, incidence and morphology of the C-shaped root canal system and its impact on clinical endodontics

PubMed Central

Kato, A; Ziegler, A; Higuchi, N; Nakata, K; Nakamura, H; Ohno, N

2014-01-01

The C-shaped root canal constitutes an unusual root morphology that can be found primarily in mandibular second permanent molars. Due to the complexity of their structure, C-shaped root canal systems may complicate endodontic interventions. A thorough understanding of root canal morphology is therefore imperative for proper diagnosis and successful treatment. This review aims to summarize current knowledge regarding C-shaped roots and root canals, from basic morphology to advanced endodontic procedures. To this end, a systematic search was conducted using the MEDLINE, BIOSIS, Cochrane Library, EMBASE, Google Scholar, Web of Science, PLoS and BioMed Central databases, and many rarely cited articles were included. Furthermore, four interactive 3D models of extracted teeth are introduced that will allow for a better understanding of the complex C-shaped root canal morphology. In addition, the present publication includes an embedded best-practice video showing an exemplary root canal procedure on a tooth with a pronounced C-shaped root canal. The survey of this unusual structure concludes with a number of suggestions concerning future research efforts. PMID:24483229

Endodontic management of an unusual maxillary first molar with a single buccal root.

PubMed

Nayak, Gurudutt; Dahiya, Surya; Singh, Inderpreet; Mohammad, Faiz Hasan

2014-05-01

The aim of this clinical article is to describe the unusual anatomy that was detected in a maxillary first molar during routine endodontic treatment. Variation in Root and Root canal morphology especially in multirooted teeth presents a constant challenge for a clinician in their detection and management. The literature is replete with cases that have extra canal or Root but cases with fused Root and fewer numbers of canals are sparse. This case report describes the endodontic management of one such unusual case of maxillary first molar presenting with a single fused buccal and a palatal Root. The confirmatory diagnosis of this morphologic aberration was done with the help of spiral computerized tomography, which revealed that the contralateral tooth also had a similar morphology. Dental practitioners should always be aware of the fact that abnormalities need not be in form of extra Roots or Root canals; anomalies can also be in form of fewer number of Roots or Root canals. A thorough knowledge of the complexities and variations of the Root canal system would help in avoiding some of the common iatrogenic access opening errors like perforations and excessive tooth removal caused during the search for the missing or extracanal.

Two stable variants of Burkholderia pseudomallei strain MSHR5848 express broadly divergent in vitro phenotypes associated with their virulence differences.

PubMed

Shea, A A; Bernhards, R C; Cote, C K; Chase, C J; Koehler, J W; Klimko, C P; Ladner, J T; Rozak, D A; Wolcott, M J; Fetterer, D P; Kern, S J; Koroleva, G I; Lovett, S P; Palacios, G F; Toothman, R G; Bozue, J A; Worsham, P L; Welkos, S L

2017-01-01

Burkholderia pseudomallei (Bp), the agent of melioidosis, causes disease ranging from acute and rapidly fatal to protracted and chronic. Bp is highly infectious by aerosol, can cause severe disease with nonspecific symptoms, and is naturally resistant to multiple antibiotics. However, no vaccine exists. Unlike many Bp strains, which exhibit random variability in traits such as colony morphology, Bp strain MSHR5848 exhibited two distinct and relatively stable colony morphologies on sheep blood agar plates: a smooth, glossy, pale yellow colony and a flat, rough, white colony. Passage of the two variants, designated "Smooth" and "Rough", under standard laboratory conditions produced cultures composed of > 99.9% of the single corresponding type; however, both could switch to the other type at different frequencies when incubated in certain nutritionally stringent or stressful growth conditions. These MSHR5848 derivatives were extensively characterized to identify variant-associated differences. Microscopic and colony morphology differences on six differential media were observed and only the Rough variant metabolized sugars in selective agar. Antimicrobial susceptibilities and lipopolysaccharide (LPS) features were characterized and phenotype microarray profiles revealed distinct metabolic and susceptibility disparities between the variants. Results using the phenotype microarray system narrowed the 1,920 substrates to a subset which differentiated the two variants. Smooth grew more rapidly in vitro than Rough, yet the latter exhibited a nearly 10-fold lower lethal dose for mice than Smooth. Finally, the Smooth variant was phagocytosed and replicated to a greater extent and was more cytotoxic than Rough in macrophages. In contrast, multiple locus sequence type (MLST) analysis, ribotyping, and whole genome sequence analysis demonstrated the variants' genetic conservation; only a single consistent genetic difference between the two was identified for further study. These distinct differences shown by two variants of a Bp strain will be leveraged to better understand the mechanism of Bp phenotypic variability and to possibly identify in vitro markers of infection.

From coffee ring to spherulites ring of poly(ethylene oxide) film from drying droplet

NASA Astrophysics Data System (ADS)

Hu, Yinchun; Zhang, Xuerong; Qiu, Maibo; Wei, Yan; Zhou, Qiong; Huang, Di

2018-03-01

We discuss how the "spherulites ring" morphology and "coffee ring" profile of PEO film formed by the drying droplet at glass substrate with different heating rate. Upon increasing the heating rate of substrate, it is found that deposited PEO film from drying droplet shows the unusually observed "coffee ring" profile and "spherulites ring" morphology. The main mechanism for this phenomenon is proposed to be an enhanced Marangoni convection which is induced by the increased solute concentration gradient and reduced viscous force above 70 °C. A simple formation mechanism of the unusually observed "coffee ring" profile and "spherulites ring" morphology is proposed. These findings can be exploited to trace the center of Marangoni convection, with potential applications in designing the spherulite patterns of crystalline polymer films in ink-jet printing and self-assembly fields.

Characterisation of myosin heavy chain gene variants in the fast and slow muscle fibres of gammarid amphipods.

PubMed

Whiteley, N M; Magnay, J L; McCleary, S J; Nia, S Khazraee; El Haj, A J; Rock, J

2010-10-01

Recent molecular work has revealed a large diversity of myosin heavy chain (MyHC) gene variants in the abdominal musculature of gammarid amphipods. An unusual truncated MyHC transcript from the loop 1 region (Variant A(3)) was consistently observed in multiple species and populations. The current study aimed to determine whether this MyHC variant is specific to a particular muscle fibre type, as a change in net charge to the loop 1 region of Variant A(3) could be functionally significant. The localisation of different fibre types within the abdominal musculature of several gammarid species revealed that the deep flexor and extensor muscles are fast-twitch muscle fibres. The dorsal superficial muscles were identified as slow fibres and the muscles extrinsic to the pleopods were identified as intermediate fibres. Amplification of loop 1 region mRNA from isolated superficial extensor and deep flexor muscles, and subsequent liquid chromatography and sequence analysis revealed that Variant A(3) was the primary MyHC variant in slow muscles, and the conserved A(1) sequence was the primary variant in fast muscles. The specific role of Variant A(3) in the slow muscles remains to be investigated. 2010 Elsevier Inc. All rights reserved.

Variant Anatomy of the Hepatic Vasculature: Importance in Hepatobiliary Resections

PubMed Central

Tigga, Sarika Rachel; Budhiraja, Virendra; Rastogi, Rakhi

2017-01-01

A variant anatomy of the hepatic vasculature has a clinically significant role in hepatobiliary transplantation, resection, tumour embolisation as well as in extrahepatic abdominal surgeries involving the stomach, pancreas or gall bladder. During routine cadaveric dissection, we observed a case of unusually small calibre hepatic artery proper. An accessory hepatic artery was seen emerging from the superior mesenteric artery to the right hepatic lobe along with an accessory hepatic vein from the right hepatic lobe that drained directly into the inferior vena cava. Such accessory hepatic vessels complicate and necessitate an alteration of surgical methodology during resection of hepatic lobes. Preoperative knowledge of variant hepatic vasculature is crucial for minimising the iatrogenic injury and facilitating successful abdominal surgeries. PMID:28764144

Influence of modified muscle morphology and activity pattern on the results of musculoskeletal system modelling in cerebral palsy patient.

PubMed

Ogrodnik, Justyna; Piszczatowski, Szczepan

2017-01-01

The aim of the present study was to evaluate the influence of modified morphological parameters of the muscle model and excitation pattern on the results of musculoskeletal system numerical simulation in a cerebral palsy patient. The modelling of the musculoskeletal system was performed in the AnyBody Modelling System. The standard model (MoCap) was subjected to modifications consisting of changes in morphological parameters and excitation patterns of selected muscles. The research was conducted with the use of data of a 14-year-old cerebral palsy patient. A reduction of morphological parameters (variant MI) caused a decrease in the value of active force generated by the muscle with changed geometry, and as a consequence the changes in active force generated by other muscles. A simulation of the abnormal excitation pattern (variant MII) resulted in the muscle's additional activity during its lengthening. The simultaneous modification of the muscle morphology and excitation pattern (variant MIII) points to the interdependence of both types of muscle model changes. A significant increase in the value of the reaction force in the hip joint was observed as a consequence of modification of the hip abductor activity. The morphological parameters and the excitation pattern of modelled muscles have a significant influence on the results of numerical simulation of the musculoskeletal system functioning.

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.

PubMed

Beetz, Christian; Johnson, Adam; Schuh, Amber L; Thakur, Seema; Varga, Rita-Eva; Fothergill, Thomas; Hertel, Nicole; Bomba-Warczak, Ewa; Thiele, Holger; Nürnberg, Gudrun; Altmüller, Janine; Saxena, Renu; Chapman, Edwin R; Dent, Erik W; Nürnberg, Peter; Audhya, Anjon

2013-03-26

Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which define a diverse set of complex hereditary spastic paraplegias. We present two siblings who have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy. Genome-wide SNP-typing, linkage analysis, and exome sequencing revealed a homozygous c.316C>T (p.R106C) variant in the Trk-fused gene (TFG) as the only plausible mutation. Biochemical characterization of the mutant protein demonstrated a defect in its ability to self-assemble into an oligomeric complex, which is critical for normal TFG function. In cell lines, TFG inhibition slows protein secretion from the endoplasmic reticulum (ER) and alters ER morphology, disrupting organization of peripheral ER tubules and causing collapse of the ER network onto the underlying microtubule cytoskeleton. The present study provides a unique link between altered ER architecture and neurodegeneration.

Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.

PubMed

van der Merwe, Pieter Du Toit; Rensburg, Megan A; Haylett, William L; Bardien, Soraya; Davids, M Razeen

2017-01-26

Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. The affected individuals and two unaffected first degree relatives were enrolled into the study. Phenotypes were evaluated through history, physical examination and biochemical analysis of blood and urine. Mutation screening was performed by sequencing of SLC12A3, and determining the allele frequencies of the sequence variants found in this family in 117 ethnically matched controls. The index patient, her sister, father and two aunts had a history of severe salt cravings, fatigue and tetanic episodes, leading to consumption of large quantities of salt and vinegar. All affected individuals demonstrated hypokalaemia with renal potassium wasting. Genetic analysis revealed that the pseudo-dominant pattern of inheritance was due to compound heterozygosity with two novel mutations: a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16. These variants were present in the five affected individuals, but only one variant each in the unaffected family members. Neither variant was found in any of the controls. The diagnosis of GS was established in five members of a South African family through clinical assessment, biochemical analysis and mutation screening of the SLC12A3 gene, which identified two novel putative pathogenic mutations.

A unique physeal injury of the distal phalanx.

PubMed

Berber, Onur; Singh, Bijayendra

2015-01-01

An unusual Salter-Harris Type 1 fracture variant of the distal phalanx of the index finger is described. The epiphysis was dislocated, sitting dorsally over the middle phalanx head with the articular surface facing dorsal. Reduction could only be achieved through an open procedure. The reduction was stable without supplemental fixation.

Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature.

PubMed

Iwuagwu, F C; Rigby, H S; Payne, F; Reid, C D

1999-10-01

Juvenile xanthogranuloma is a relatively rare cutaneous lesion. In order to make an early diagnosis and be alert to the possibility of visceral complications and associated medical conditions, plastic surgeons should be aware of the entity. The classic presentation is that of successive eruptions in the head, neck and upper trunk of initially red papules or nodules which later become yellow and finally brown flattened plaques or macules. This report is of an unusual variant with atypical histology including frequent mitoses and a lack of Touton giant cells. Copyright 1999 The British Association of Plastic Surgeons.

Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes?

PubMed Central

Feinberg, T E; Shapiro, A K; Shapiro, E

1986-01-01

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes. PMID:3457101

Dysmorphometrics: the modelling of morphological abnormalities.

PubMed

Claes, Peter; Daniels, Katleen; Walters, Mark; Clement, John; Vandermeulen, Dirk; Suetens, Paul

2012-02-06

The study of typical morphological variations using quantitative, morphometric descriptors has always interested biologists in general. However, unusual examples of form, such as abnormalities are often encountered in biomedical sciences. Despite the long history of morphometrics, the means to identify and quantify such unusual form differences remains limited. A theoretical concept, called dysmorphometrics, is introduced augmenting current geometric morphometrics with a focus on identifying and modelling form abnormalities. Dysmorphometrics applies the paradigm of detecting form differences as outliers compared to an appropriate norm. To achieve this, the likelihood formulation of landmark superimpositions is extended with outlier processes explicitly introducing a latent variable coding for abnormalities. A tractable solution to this augmented superimposition problem is obtained using Expectation-Maximization. The topography of detected abnormalities is encoded in a dysmorphogram. We demonstrate the use of dysmorphometrics to measure abrupt changes in time, asymmetry and discordancy in a set of human faces presenting with facial abnormalities. The results clearly illustrate the unique power to reveal unusual form differences given only normative data with clear applications in both biomedical practice & research.

Nucleolar organizer region variants as a risk factor for Down syndrome.

PubMed Central

Jackson-Cook, C K; Flannery, D B; Corey, L A; Nance, W E; Brown, J A

1985-01-01

An unusual nucleolar organizer region (NOR) heteromorphism was noted among 13 of 41 parents in whom nondisjunction leading to trisomy 21 was known to have occurred. In contrast, only one of these double NOR (dNOR) variants was found among the 41 normal spouses and none were seen among 50 control individuals. In two dNOR(+) families, a second child with trisomy 21 was conceived. In both families, the extra chromosome in each child was contributed by the parent who carried the dNOR variant and resulted from a recurrent meiosis I error. Our data suggest that the dNOR heteromorphism may play a role in meiotic nondisjunction and could be associated with as much as a 20-fold increased risk for having offspring with trisomy 21. Images Fig. 1 PMID:2934977

Low-intensity red and infrared laser effects at high fluences on Escherichia coli cultures

PubMed Central

Barboza, L.L.; Campos, V.M.A.; Magalhães, L.A.G.; Paoli, F.; Fonseca, A.S.

2015-01-01

Semiconductor laser devices are readily available and practical radiation sources providing wavelength tenability and high monochromaticity. Low-intensity red and near-infrared lasers are considered safe for use in clinical applications. However, adverse effects can occur via free radical generation, and the biological effects of these lasers from unusually high fluences or high doses have not yet been evaluated. Here, we evaluated the survival, filamentation induction and morphology of Escherichia coli cells deficient in repair of oxidative DNA lesions when exposed to low-intensity red and infrared lasers at unusually high fluences. Cultures of wild-type (AB1157), endonuclease III-deficient (JW1625-1), and endonuclease IV-deficient (JW2146-1) E. coli, in exponential and stationary growth phases, were exposed to red and infrared lasers (0, 250, 500, and 1000 J/cm2) to evaluate their survival rates, filamentation phenotype induction and cell morphologies. The results showed that low-intensity red and infrared lasers at high fluences are lethal, induce a filamentation phenotype, and alter the morphology of the E. coli cells. Low-intensity red and infrared lasers have potential to induce adverse effects on cells, whether used at unusually high fluences, or at high doses. Hence, there is a need to reinforce the importance of accurate dosimetry in therapeutic protocols. PMID:26445339

Histological variants of cutaneous Kaposi sarcoma

PubMed Central

Grayson, Wayne; Pantanowitz, Liron

2008-01-01

This review provides a comprehensive overview of the broad clinicopathologic spectrum of cutaneous Kaposi sarcoma (KS) lesions. Variants discussed include: usual KS lesions associated with disease progression (i.e. patch, plaque and nodular stage); morphologic subtypes alluded to in the older literature such as anaplastic and telangiectatic KS, as well as several lymphedematous variants; and numerous recently described variants including hyperkeratotic, keloidal, micronodular, pyogenic granuloma-like, ecchymotic, and intravascular KS. Involuting lesions as a result of treatment related regression are also presented. PMID:18655700

A unique physeal injury of the distal phalanx

PubMed Central

Berber, Onur; Singh, Bijayendra

2015-01-01

Abstract An unusual Salter–Harris Type 1 fracture variant of the distal phalanx of the index finger is described. The epiphysis was dislocated, sitting dorsally over the middle phalanx head with the articular surface facing dorsal. Reduction could only be achieved through an open procedure. The reduction was stable without supplemental fixation. PMID:27252957

78 FR 19982 - Special Conditions: Turbomeca Ardiden 3K Turboshaft Engine

Federal Register 2010, 2011, 2012, 2013, 2014

2013-04-03

... novel or unusual design feature that is a 30-minute all engines operating (AEO) power rating for... appropriate safety standards for this design feature. These special conditions contain the additional safety... Ardiden 3K engine is the first variant in the new Ardiden 3 series. This engine incorporates a two-stage...

Dedifferentiated liposarcoma arising from the sigmoid mesocolon: A case report

PubMed Central

Winn, Brody; Gao, John; Akbari, Homayoon; Bhattacharya, Baishali

2007-01-01

Dedifferentiated liposarcoma is a variant of liposarcoma with a more aggressive course. It occurs most commonly in the retroperitoneum and rarely in other anatomic locations. In the present report, we describe a case of dedifferentiated liposarcoma that occurred in an unusual location, sigmoid mesocolon, which has not yet been documented. PMID:17696239

The soleal line: a cause of tibial pseudoperiostitis.

PubMed

Levine, A H; Pais, M J; Berinson, H; Amenta, P S

1976-04-01

An unusually prominent soleal line (a normal anatomic variant) may mimic periosteal reaction along the posterior margin of the proximal tibial shaft. This area of pseudoperiostitis is differentiated from hyperostoses arising from the anterior tibial tubercle and the interosseous membrane. It is always associated with normal, undisturbed architecture of the underlying bone.

Rational evolution of the unusual Y-type oxyanion hole of Rhodococcus sp. CR53 lipase LipR.

PubMed

Infanzón, Belén; Sotelo, Pablo H; Martínez, Josefina; Diaz, Pilar

2018-01-01

Rhodococcus sp CR-53 lipase LipR was the first characterized member of bacterial lipase family X. Interestingly, LipR displays some similarity with α/β-hydrolases of the C. antartica lipase A (CAL-A)-like superfamily (abH38), bearing a Y-type oxyanion hole, never found before among bacterial lipases. In order to explore this unusual Y-type oxyanion hole, and to improve LipR performance, two modification strategies based on site directed or saturation mutagenesis were addressed. Initially, a small library of mutants was designed to convert LipR Y-type oxyanion hole (YDS) into one closer to those most frequently found in bacteria (GGG(X)). However, activity was completely lost in all mutants obtained, indicating that the Y-type oxyanion hole of LipR is required for activity. A second approach was addressed to modify the two main oxyanion hole residues Tyr 110 and Asp 111 , previously described for CAL-A as the most relevant amino acids involved in stabilization of the enzyme-substrate complex. A saturation mutagenesis library was prepared for each residue (Tyr 110 and Asp 111 ), and activity of the resulting variants was assayed on different chain length substrates. No functional LipR variants could be obtained when Tyr 110 was replaced by any other amino acids, indicating that this is a crucial residue for catalysis. However, among the Asp 111 variants obtained, LipR D111G produced a functional enzyme. Interestingly, this LipR-YGS variant showed less activity than wild type LipR on short- or mid- chain substrates but displayed a 5.6-fold increased activity on long chain length substrates. Analysis of the 3D model and in silico docking studies of this enzyme variant suggest that substitution of Asp by Gly produces a wider entrance tunnel that would allow for a better and tight accommodation of larger substrates, thus justifying the experimental results obtained. Copyright © 2017 Elsevier Inc. All rights reserved.

Morphological plasticity of bacteria—Open questions

PubMed Central

Shen, Jie-Pan

2016-01-01

Morphological plasticity of bacteria is a cryptic phenomenon, by which bacteria acquire adaptive benefits for coping with changing environments. Some environmental cues were identified to induce morphological plasticity, but the underlying molecular mechanisms remain largely unknown. Physical and chemical factors causing morphological changes in bacteria have been investigated and mostly associated with potential pathways linked to the cell wall synthetic machinery. These include starvation, oxidative stresses, predation effectors, antimicrobial agents, temperature stresses, osmotic shock, and mechanical constraints. In an extreme scenario of morphological plasticity, bacteria can be induced to be shapeshifters when the cell walls are defective or deficient. They follow distinct developmental pathways and transform into assorted morphological variants, and most of them would eventually revert to typical cell morphology. It is suggested that phenotypic heterogeneity might play a functional role in the development of morphological diversity and/or plasticity within an isogenic population. Accordingly, phenotypic heterogeneity and inherited morphological plasticity are found to be survival strategies adopted by bacteria in response to environmental stresses. Here, microfluidic and nanofabrication technology is considered to provide versatile solutions to induce morphological plasticity, sort and isolate morphological variants, and perform single-cell analysis including transcriptional and epigenetic profiling. Questions such as how morphogenesis network is modulated or rewired (if epigenetic controls of cell morphogenesis apply) to induce bacterial morphological plasticity could be resolved with the aid of micro-nanofluidic platforms and optimization algorithms, such as feedback system control. PMID:27375812

Hyperosmotic Stress Response of Campylobacter jejuni

PubMed Central

Cameron, Andrew; Frirdich, Emilisa; Huynh, Steven; Parker, Craig T.

2012-01-01

The diarrheal pathogen Campylobacter jejuni and other gastrointestinal bacteria encounter changes in osmolarity in the environment, through exposure to food processing, and upon entering host organisms, where osmotic adaptation can be associated with virulence. In this study, growth profiles, transcriptomics, and phenotypic, mutant, and single-cell analyses were used to explore the effects of hyperosmotic stress exposure on C. jejuni. Increased growth inhibition correlated with increased osmotic concentration, with both ionic and nonionic stressors inhibiting growth at 0.620 total osmol liter−1. C. jejuni adaptation to a range of osmotic stressors and concentrations was accompanied by severe filamentation in subpopulations, with microscopy indicating septum formation and phenotypic diversity between individual cells in a filament. Population heterogeneity was also exemplified by the bifurcation of colony morphology into small and large variants on salt stress plates. Flow cytometry of C. jejuni harboring green fluorescent protein (GFP) fused to the ATP synthase promoter likewise revealed bimodal subpopulations under hyperosmotic stress. We also identified frequent hyperosmotic stress-sensitive variants within the clonal wild-type population propagated on standard laboratory medium. Microarray analysis following hyperosmotic upshift revealed enhanced expression of heat shock genes and genes encoding enzymes for synthesis of potential osmoprotectants and cross-protective induction of oxidative stress genes. The capsule export gene kpsM was also upregulated, and an acapsular mutant was defective for growth under hyperosmotic stress. For C. jejuni, an organism lacking most conventional osmotic response factors, these data suggest an unusual hyperosmotic stress response, including likely “bet-hedging” survival strategies relying on the presence of stress-fit individuals in a heterogeneous population. PMID:22961853

The Impact of Semantic Transparency of Morphologically Complex Words on Picture Naming

ERIC Educational Resources Information Center

Dohmes, Petra; Zwitserlood, Pienie; Bolte, Jens

2004-01-01

We examined the contribution of semantic similarity to morphological priming effects, using the immediate (Exp. 1 and 3) and the delayed variant (Exp. 2) of picture-word interference. Distractor words were either compounds morphologically related to the picture name, but differing with respect to their semantic transparency (hummingbird, jailbird…

Myofibroblastoma Breast with Unusual Morphological Features. Cytohistopathogical Diagnostic Pitfalls and Role of Immunohistochemistry-Review of Literature

PubMed Central

Shivali, B.; S., Kataria; Chandramouleeswari, K.; Anita, S.

2013-01-01

Myofibroblastoma (MFB) is a rare mesenchymal tumour, derived from mammary stromal fibro-myofibroblasts, with diverse biological and morphological behaviour. Large and cellular myofibroblastomas, especially those with epitheliod like cells, can mimic various spindle cell lesions and metaplastic carcinomas, thus posing diagnostic challenge. A 50–year woman presented with slow growing, painless lump in the left breast. Fine Needle Aspiration (FNA) smears showed predominant atypical spindle cell population, pleomorphic epithelial like cells and giant cells. Cytodiagnosis of atypical spindle cell lesion with the possibility of metaplastic carcinoma was suggested. Histopathological examination showed fascicles of spindle cell population admixed with epithelial like cells, atypical cells and tumour giant cells, thus raising differential diagnosis of metaplastic carcinoma, low grade spindle cell sarcoma and myofibroblastic tumour. Lymph nodes were negative for metastatic deposits. Immunohistochemistry revealed variable coexpression of markers for vimentin, fibronectin, CD34, SMA (smooth muscle actin), but negative expression for , S-100, CD99, CK7 (cytokeratin 7), HMWK (high molecular weight keratin), ER (oestrogen receptor) and PR(progesterone receptors). Diagnosis of cellular myofibroblastoma with mixed unusual morphological features was defined, based on both histological and immunohistochemical features. MFB may cause a potential diagnostic pitfall while interpreting FNA and histopathological sections due to its wide differential diagnosis. The distinction of MFB from its cytohistological mimics of malignancy is crucial to avoid unnecessary extensive procedures. The case report emphasizes the role of immunohistochemistry as gold standard in diagnosis of MFB. The case is also being presented because of its large size and rare mixed unusual morphological features. PMID:24298520

Histopathologic risk factors in oral and oropharyngeal squamous cell carcinoma variants: An update with special reference to HPV-related carcinomas

PubMed Central

2014-01-01

Accurate identification of the microscopic risk factors of oral and oropharyngeal (OP) squamous cell carcinomas (SCC) and their morphologic variants is of at most importance, as these generally determine treatment modalities, prognosis and overall patient outcome. The great majority of oral and oropharyngeal squamous cell carcinomas are microscopically described as kerartinizing squamous cell carcinoma (KSCC). They bear certain resemblance to keratinizing stratified squamous epithelium. Tobacco habits and excessive consumption of alcoholic beverages have been considered to be the main etiologic agents in these carcinomas. The tumors occurred in older patients more commonly affected the oral tongue and floor of the mouth with well established morphologic risk factors including tumor grade, pattern of invasion and perineural involvement. Within the last 30 years however, the advent and expanding prevalence of high risk human papillomavirus (HPV) as an important etiologic agent for head and neck squamous cell carcinoma, particularly in the OP, has resulted in a significant change in the established morphologic criteria for risk assessment. The majority of HPV relate carcinomas of the OP are nonkeratinizing squamous cell carcinoma (NKSCC). These tumors are found to be more responsive to treatment with a favorable patient outcome and good prognosis. Consequently, alterations in treatment protocols aimed at de-escalation are currently being evaluated. More recently, other morphologic variants that are HPV positive are reported with increasing frequency in the OP and other head and neck sites. As a result, several clinical and pathologic questions have emerged. Importantly, whether the virus is biologically active in these tumors and involved in their pathogenesis, and second, what are the clinical implications with regard to patient management and outcome in the HPV-related variants. Examples of HPV-related squamous cell carcinoma variants that will be addressed here are: basaloid squamous cell carcinoma (BSCC), undifferentiated carcinoma (UCa), papillary squamous carcinoma (PSCC) and small cell carcinoma. Some studies have suggested favorable prognosis in some variants, analogous to that of the (NKSCC), while others showed poorer outcome. So far the number of studies on this subject is limited and the number of cases evaluated in each investigation is few. Because of that, it is prudent at this stage, not to alter management protocols as a result of identification of HPV in these variants and to await additional information Key words:Histopathologic risk-factors, oral cavity, oropharynx, squamous cell carcinoma variants, keratinizing squamous cell carcinoma, nonkeratinizing squamous cell carcinoma, HPV, basaloid squamous cell carcinoma, undifferentiated carcinoma, papillary squamous cell carcinoma, small cell carcinoma. PMID:24880454

Maxillary first molar with three buccal roots evaluated with cone-beam computed tomography: a rare case report.

PubMed

Kottoor, Jojo; Nandini, Suresh; Velmurugan, Natanasabapathy

2012-01-01

This case report describes the nonsurgical endodontic management of a maxillary first molar with the unusual morphology of three separate buccal roots. An accurate assessment of this morphology was made with the help of cone-beam computed tomography (CBCT). This report also describes the varied root morphology associated with maxillary first molars and the role of CBCT as a diagnostic tool for managing these complex cases successfully.

Phage-resistance linked to cell heterogeneity in the commercial strain Lactobacillus delbrueckii subsp. lactis Ab1.

PubMed

Suárez, Viviana B; Maciel, Natalia; Guglielmotti, Daniela; Zago, Miriam; Giraffa, Giorgio; Reinheimer, Jorge

2008-12-10

The aim of this work was to study the relationship between the cell morphological heterogeneity and the phage-resistance in the commercial strain Lactobacillus delbrueckii subsp. lactis Ab1. Two morphological variants (named C and T) were isolated from this strain. Phage-resistant derivatives were isolated from them and the percentage of occurrence of confirmed phage-resistant cells was 0.001% of the total cellular population. Within these phage-resistant cell derivatives there were T (3 out of 4 total isolates) and C (1 out of 4 total isolates) variants. The study of some technological properties (e.g. proteolytic and acidifying activities) demonstrated that most of phage-resistant derivatives were not as good as the parental strain. However, for one derivative (a T variant), the technological properties were better than those of the parental strain. On the other hand, it was possible to determinate that the system of phage-resistance in the T variants was interference in adsorption step, with adsorption rates <15%. For the C variant derivative it was possible to demonstrate the presence of a restriction/modification system and, moreover, to determinate that this system could be Type I R/M.

An unusual fracture of the talus in a snowboarder.

PubMed

Vlahovich, A Tanja; Mehin, Ramin; O'Brien, Peter J

2005-08-01

Fractures of the talus are uncommon. However, snow- boarding and skateboarding are 2 activities that are specifically associated with talus fractures. These patients sustain occult lateral talus process fractures that present as a severe ankle injury. The diagnosis is difficult because of subtle clinical and plain radiographic findings. Computed tomography is a very useful tool for the assessment of these injuries. Although the majority of these athletes have lateral sided talus fractures, there are variants. We present an unusual case of a displaced intra-articular fracture of the subtalar joint involving the middle articular facet of the talus with extension of the fracture into the talar head. This highlights the importance of carefully assessing snowboarders' "ankle injuries."

Imaging prototypical aromatic molecules on insulating surfaces: a review

NASA Astrophysics Data System (ADS)

Hoffmann-Vogel, R.

2018-01-01

Insulating substrates allow for in-plane contacted molecular electronics devices where the molecule is in contact with the insulator. For the development of such devices it is important to understand the interaction of molecules with insulating surfaces. As substrates, ionic crystals such as KBr, KCl, NaCl and CaF2 are discussed. The surface energies of these substrates are small and as a consequence intrinsic properties of the molecules, such as molecule–molecule interaction, become more important relative to interactions with the substrates. As prototypical molecules, three variants of graphene-related molecules are used, pentacene, C60 and PTCDA. Pentacene is a good candidate for molecular electronics applications due to its high charge carrier mobility. It shows mainly an upright standing growth mode and the morphology of the islands is strongly influenced by dewetting. A new second flat-lying phase of the molecule has been observed. Studying the local work function using the Kelvin method reveals details such as line defects in the center of islands. The local work function differences between the upright-standing and flat-lying phase can only be explained by charge transfer that is unusual on ionic crystalline surfaces. C60 nucleation and growth is explained by loosely bound molecules at kink sites as nucleation sites. The stability of C60 islands as a function of magic numbers is investigated. Peculiar island shapes are obtained from unusual dewetting processes already at work during growth, where molecules ‘climb’ to the second molecular layer. PTCDA is a prototypical semiconducting molecule with strong quadrupole moment. It grows in the form of elongated islands where the top and the facets can be molecularly resolved. In this way the precise molecular arrangement in the islands is revealed.

Lactobacillus iners: Friend or Foe?

PubMed

Petrova, Mariya I; Reid, Gregor; Vaneechoutte, Mario; Lebeer, Sarah

2017-03-01

The vaginal microbial community is typically characterized by abundant lactobacilli. Lactobacillus iners, a fairly recently detected species, is frequently present in the vaginal niche. However, the role of this species in vaginal health is unclear, since it can be detected in normal conditions as well as during vaginal dysbiosis, such as bacterial vaginosis, a condition characterized by an abnormal increase in bacterial diversity and lack of typical lactobacilli. Compared to other Lactobacillus species, L. iners has more complex nutritional requirements and a Gram-variable morphology. L. iners has an unusually small genome (ca. 1 Mbp), indicative of a symbiotic or parasitic lifestyle, in contrast to other lactobacilli that show niche flexibility and genomes of up to 3-4 Mbp. The presence of specific L. iners genes, such as those encoding iron-sulfur proteins and unique σ-factors, reflects a high degree of niche specification. The genome of L. iners strains also encodes inerolysin, a pore-forming toxin related to vaginolysin of Gardnerella vaginalis. Possibly, this organism may have clonal variants that in some cases promote a healthy vagina, and in other cases are associated with dysbiosis and disease. Future research should examine this friend or foe relationship with the host. Copyright © 2016 Elsevier Ltd. All rights reserved.

Glacial morphology and depositional sequences of the Antarctic Continental Shelf

USGS Publications Warehouse

ten Brink, Uri S.; Schneider, Christopher

1995-01-01

Proposes a simple model for the unusual depositional sequences and morphology of the Antarctic continental shelf. It considers the regional stratal geometry and the reversed morphology to be principally the results of time-integrated effects of glacial erosion and sedimentation related to the location of the ice grounding line. The model offers several guidelines for stratigraphic interpretation of the Antarctic shelf and a Northern Hemisphere shelf, both of which were subject to many glacial advances and retreats. -Authors

In-situ characterization of highly reversible phase transformation by synchrotron X-ray Laue microdiffraction

DOE PAGES

Chen, Xian; Tamura, Nobumichi; MacDowell, Alastair; ...

2016-05-23

The alloy Cu 25 Au 30 Zn 45 undergoes a huge first-order phase transformation (6% strain) and shows a high reversibility under thermal cycling and an unusual martensitc microstructure in sharp contrast to its nearby compositions. We discovered this alloy by systematically tuning the composition so that its lattice parameters satisfy the cofactor conditions (i.e., the kinematic conditions of compatibility between phases). It was conjectured that satisfaction of these conditions is responsible for the enhanced reversibility as well as the observed unusual fluid-like microstructure during transformation, but so far, there has been no direct evidence confirming that these observed microstructuresmore » are those predicted by the cofactor conditions. In order to verify this hypothesis, we use synchrotron X-ray Laue microdiffraction to measure the orientations and structural parameters of variants and phases near the austenite/martensite interface. The areas consisting of both austenite and multi-variants of martensite are scanned by microLaue diffraction. The cofactor conditions have been examined from the kinematic relation of lattice vectors across the interface. The continuity condition of the interface is precisely verified from the correspondent lattice vectors between two phases.« less

Expression of VEGF 111 and other VEGF-A variants in the rat uterus is correlated with stage of pregnancy.

PubMed

Whittington, Camilla M; Danastas, Kevin; Grau, Georges E; Murphy, Christopher R; Thompson, Michael B

2017-02-01

Vascular endothelial growth factor A is a major mediator of angiogenesis, a critically important process in vertebrate growth and development as well as pregnancy. Here we report for the first time the expression of a rare and unusually potent splice variant, VEGF 111 , in vivo in mammals. This variant has previously only been found in mammals in cultured human cells exposed to genotoxic agents. Our discovery of VEGF 111 in the uterus of both a eutherian (rat) and a marsupial (fat-tailed dunnart) suggests that the splice variant may be common to all mammals. As VEGF 111 is also expressed in the uterus of at least one lineage of lizards, the expression of this splice variant may be a widespread amniote phenomenon. We measured expression of VEGF 111 and two major VEGF-A splice variants in the uterus of pregnant rats, showing that the three variants show different expression patterns across pregnancy. Our results suggest that viviparous mammals possess a precisely regulated milieu of VEGF isoforms producing the angiogenesis required for successful pregnancy. The discovery of VEGF 111 in rat uterus paves the way for the development of in vivo models of VEGF 111 activity in a highly tractable laboratory animal, and is particularly significant in the context of early pregnancy loss and cancer research.

Unusual Surprises in Glaucoma Filtering Surgeries: Lessons Learned and Review of Literature.

PubMed

Rao, Aparna; Padhy, Debananda; Roy, Avik Kumar; Senthil, Sirisha

2018-01-01

To describe an unusual series of complications after glaucoma filtering surgeries with their clinical findings and outcome after tailored non-conventional modes of therapy. Eighteen patients who underwent re-interventions (medical or surgical) after glaucoma filtering surgeries during the period at two tertiary centers, excluding those that required conventional modes of treatment (medical control or re-trabeculectomy, simple wound closure for traumatic wound dehiscence, bleb revision or needling, laser iridotomy), were included. Relevant clinical details with intraoperative videos, intraoperative or postoperative problems, and images with course after re-intervention were retrieved from the hospital database. Clinical details which helped in clinching diagnosis and cause for problems and course after intervention with final vision and intraocular pressure were evaluated. Six of 18 eyes required surgical management for an unusual course of events after an uneventful filtering surgery. Bleb morphology and close follow-up of the conjunctiva, in addition to intraocular pressure (IOP) and anterior chamber (AC) configuration, helped diagnose possible aetiology and appropriate tailored management. All patients had good IOP and visual outcome in all except one with macular scar status after retinal detachment surgery. Assessment of the bleb morphology in the postoperative course coupled with monitoring of the conjunctival wound are essential to conventional monitoring of IOP and anterior chamber configuration to arrive at appropriate management for rare unusual events after glaucoma surgery.

[Application of digital pathology tools. An unusual case of non-Hodgkin lymphoma].

PubMed

Meyer, A-S K; Dallenbach, F E; Lienert, G; Möller, P; Lennerz, J K

2012-11-01

Currently, lymphoma diagnosis is based on a combination of morphology, immunophenotyping, and molecular testing. Using the example of an unusual case of malignant non-Hodgkin lymphoma, we show that improved visualization using digital pathology contributes to the convergence of these complementary diagnostic modalities. A 45-year-old woman presented with skin rash and cervical lymphadenopathy. Histological workup of an excised lymph node showed loss of normal architecture with diffuse infiltration and increased mitotic activity. Immunohistochemistry for CD3/CD5 showed atypical arrangement and infiltration of a T-cell population that dominated over regionally dense, MUM1-positive plasmacellular infiltrates. Expanded CD21/CD23-positive meshworks of follicular dendritic cells were present within and between regressed follicles and the T-cell infiltrate; staining for CD56 and cyclin-D1 was negative. Quantification of Ki-67 staining within the T-, B- and plasmacellular compartments was achieved by digital image conversion, overlay and subsequent quantification algorithms that revealed proliferation within more than 60% of T-cells, over 50% of plasma cells and only 20% of B-cells. Clonality analysis by PCR revealed monoclonal rearrangement for both T-cell receptor gamma chains and immunoglobulin heavy chains. Taken together, we present an unusual combination of an angioimmunoblastic T-cell lymphoma (AITL) and simultaneous plasmacellular lymphoma. This report demonstrates how application of modern tools of digital pathology can visually integrate unusual morphological and molecular findings.

Familial pachygyria in both genders related to a DCX mutation.

PubMed

Kim, Young Ok; Nam, Tai-Seung; Park, Chungoo; Kim, Seul Kee; Yoon, Woong; Choi, Seok-Yong; Kim, Myeong-Kyu; Woo, Young Jong

2016-06-01

Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epilepsy and anterior dominant pachygyria without SBH in both genders. Two potential variants were found for the genes encoding DCX and beta tubulin isotype 1 (TUBB1). The novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual disability after gender matching. We report an unusual DCX-related disorder exhibiting familial pachygyria without SBH in both genders. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

[Association of three anatomical variants of the anterior cerebral circulation].

PubMed

Reyes-Soto, Gervith; Pérez-Cruz, Julio; Delgado-Reyes, Luis; Ortega-Gutiérrez, César; Téllez-Palacios, Daniela

2012-01-01

As part of a study of the microsurgical anatomy of the pericallosal artery, we describe one brain with three unusual anatomical variants. From the autopsy of a 45 year-old female, we extracted the brain and all the arterial blood vessels were washed off with saline solution to be injected afterwards with red latex. The brain was then immersed in 10% formalin for two months. Finally, we dissected and measured the internal carotid artery segments, using a digital Vernier caliper under a Carl Zeiss OPMI surgical microscope with magnification of 6x up to 40x. The brain's weight was 1250 grams and three rare anatomical variants were found: 1) right accessory middle cerebral artery (ACMA-d), 2) right bihemispheric anterior cerebral artery (ACABihem-d), 3) median artery of the corpus callosum (AMCC). The association of the anatomical variations described previously is inconstant; furthermore, their appearance in a single case is rare.

Unusual sensory variant of Guillain-Barré syndrome.

PubMed

Semproni, Milena; Gibson, Gillian; Kuyper, Laura; Tam, Penny

2017-07-14

We describe a 52-year-old woman presenting with acute onset of severe burning paraesthesia in the hands and feet associated with allodynia and antalgic gait. At the time of admission to hospital no motor weakness was present. A diagnosis of Guillain-Barré syndrome (GBS) was considered when neurophysiological studies were completed showing convincing evidence of demyelination on motor conduction studies and sural sparing on sensory nerve studies. 1 We describe this case as a sensory variant of GBS. Clinical improvement followed treatment with a single course of intravenous immunoglobulin (IVIG). The patient made a complete clinical recovery within 6 months of onset and repeat neurophysiological studies showed marked improvement. We encourage clinicians to consider an atypical variant of GBS in patients presenting with acute sensory complaints. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Explaining Away the Body: Experiences of Supernaturally Caused Touch and Touch on Non-Hand Objects within the Rubber Hand Illusion

PubMed Central

2010-01-01

Background In rubber hand illusions and full body illusions, touch sensations are projected to non-body objects such as rubber hands, dolls or virtual bodies. The robustness, limits and further perceptual consequences of such illusions are not yet fully explored or understood. A number of experiments are reported that test the limits of a variant of the rubber hand illusion. Methodology/Principal Findings A variant of the rubber hand illusion is explored, in which the real and foreign hands are aligned in personal space. The presence of the illusion is ascertained with participants' scores and temperature changes of the real arm. This generates a basic illusion of touch projected to a foreign arm. Participants are presented with further, unusual visuotactile stimuli subsequent to onset of the basic illusion. Such further visuotactile stimulation is found to generate very unusual experiences of supernatural touch and touch on a non-hand object. The finding of touch on a non-hand object conflicts with prior findings, and to resolve this conflict a further hypothesis is successfully tested: that without prior onset of the basic illusion this unusual experience does not occur. Conclusions/Significance A rubber hand illusion is found that can arise when the real and the foreign arm are aligned in personal space. This illusion persists through periods of no tactile stimulation and is strong enough to allow very unusual experiences of touch felt on a cardboard box and experiences of touch produced at a distance, as if by supernatural causation. These findings suggest that one's visual body image is explained away during experience of the illusion and they may be of further importance to understanding the role of experience in delusion formation. The findings of touch on non-hand objects may help reconcile conflicting results in this area of research. In addition, new evidence is provided that relates to the recently discovered psychologically induced temperature changes that occur during the illusion. PMID:20195378

Clear cell adenocarcinoma of cervix in 1-year-old girl without in utero exposure to diethylstilbestrol: an uncommon tumour at an uncommon age and site.

PubMed

Arora, Aditi; Rastogi, Anurag; Neyaz, Azfar; Husain, Nuzhat

2017-03-16

Adenocarcinoma of cervix constitutes about 10-15% cases of carcinoma cervix. Clear cell variant is even a rarer variant of adenocarcinoma. It rarely occurs in the paediatric age group and a known risk factor is in utero exposure to diethylstilbestrol (DES). We report here a case of primary cervical tumour in a 1-year-old girl, which was initially suspected to be an embryonal rhabdomyosarcoma botryoides. Histopathology with immunohistochemical analysis revealed clear cell adenocarcinoma. There was no maternal history of DES intake during pregnancy. We discuss the histopathological characteristics and clinical course of this unusual tumour. 2017 BMJ Publishing Group Ltd.

Linked genetic variants on chromosome 10 control ear morphology and body mass among dog breeds.

PubMed

Webster, Matthew T; Kamgari, Nona; Perloski, Michele; Hoeppner, Marc P; Axelsson, Erik; Hedhammar, Åke; Pielberg, Gerli; Lindblad-Toh, Kerstin

2015-06-23

The domestic dog is a rich resource for mapping the genetic components of phenotypic variation due to its unique population history involving strong artificial selection. Genome-wide association studies have revealed a number of chromosomal regions where genetic variation associates with morphological characters that typify dog breeds. A region on chromosome 10 is among those with the highest levels of genetic differentiation between dog breeds and is associated with body mass and ear morphology, a common motif of animal domestication. We characterised variation in this region to uncover haplotype structure and identify candidate functional variants. We first identified SNPs that strongly associate with body mass and ear type by comparing sequence variation in a 3 Mb region between 19 breeds with a variety of phenotypes. We next genotyped a subset of 123 candidate SNPs in 288 samples from 46 breeds to identify the variants most highly associated with phenotype and infer haplotype structure. A cluster of SNPs that associate strongly with the drop ear phenotype is located within a narrow interval downstream of the gene MSRB3, which is involved in human hearing. These SNPs are in strong genetic linkage with another set of variants that correlate with body mass within the gene HMGA2, which affects human height. In addition we find evidence that this region has been under selection during dog domestication, and identify a cluster of SNPs within MSRB3 that are highly differentiated between dogs and wolves. We characterise genetically linked variants that potentially influence ear type and body mass in dog breeds, both key traits that have been modified by selective breeding that may also be important for domestication. The finding that variants on long haplotypes have effects on more than one trait suggests that genetic linkage can be an important determinant of the phenotypic response to selection in domestic animals.

Large Impact Features on Icy Galilean Satellites

NASA Technical Reports Server (NTRS)

Moore, J. M.; Schenk, P. M.; Korycansky, D. G.

2017-01-01

Impact crater morphology can be a very useful tool for probing planetary interiors, but nowhere in the solar system is a greater variety of crater morphologies observed (Fig. 1) than on the large icy Galilean satellites Ganymede and Callisto [e.g., 1- 3]. As on the rocky terrestrial planets, impact crater morphology becomes more complex with increasing size on these satellites. With increasing size, however, these same craters become less like their counterparts on the rocky planets. Several impact landforms and structures (multiring furrows, palimpsests, and central domes, for example), have no obvious analogs on any other planets. Further, several studies [e.g., 4-6] have drawn attention to impact landforms on Europa which are unusual, even by Galilean satellite standards. These radical differences in morphology suggest that impact into icy lithospheres that are mechanically distinct from silicate lithospheres may be responsible. As such, large impact structures may be important probes of the interiors of these bodies over time [e.g., 7]. The first goal of this work is to integrate and correlate the detailed morphologic and morphometric measurements and observations of craters on icy Galilean satellites [e.g., 4, 8-12] with new detailed mapping of these structures from Galileo high-resolution images. As a result, we put forward a revised crater taxonomy for Ganymede and Callisto in order to simplify the nonuniform impact crater nomenclature cluttering the literature. We develop and present an integrated model for the development of these unusual crater morphologies and their implications for the thermal evolution of these bodies.

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

PubMed

Sousa, Sérgio B; Venâncio, Margarida; Chanudet, Estelle; Palmer, Rodger; Ramos, Lina; Beales, Philip L; Moore, Gudrun E; Saraiva, Jorge M; Hennekam, Raoul C

2013-10-01

Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between the third and fourth fingers in another). One of the sisters had microcephaly and short stature, and the other two were obese. Obesity and somewhat similar facial features were also present in the otherwise healthy mother. Despite the overlap with several known syndromes (Albright osteodystrophy; Filippi syndrome; Rubinstein-Taybi syndrome; microdeletion 2q37), we suggest this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance. © 2013 Wiley Periodicals, Inc. Copyright © 2013 Wiley Periodicals, Inc.

A mandibular third molar with three mesial roots: a case report.

PubMed

Plotino, Gianluca

2008-02-01

Although its most common configuration is 2 roots and 3 root canals, mandibular molars might have many different combinations. A case of unusual root canal morphology is presented to demonstrate anatomic variations in mandibular molars. Endodontic therapy was performed in a mandibular third molar with 3 separate mesial roots. The appearance of the pulp chamber floor revealed 4 separate canal orifices. Radiographically the 4 root canals ended in their own distinct foramen. Many reports deal with 3 orifices or 3 independent canals in the mesial root, but none described 3 mesial canals in 3 separate mesial roots, indicating a rare anatomic configuration. This report points out the importance of looking for additional canals and unusual canal morphology, because knowledge of their existence might occasionally enable clinicians to treat a case successfully that otherwise might have ended in failure.

Severe myopia with unusual retinal anomalies and Dandy-Walker sequence in two sibs. A distinct new neuro-ocular disorder.

PubMed

de Crecchio, Giuseppe; Cennamo, Gilda; de Leeuw, Nicole; Ventruto, Maria Luisa; Lonardo, Maria Concetta; Friso, Patrizia; Ventruto, Valerio

2013-12-01

We have observed a male and a female, sibs of non-consanguineous parents, affected by severe myopia with characteristic retinal defects and Dandy-Walker variant. The peculiarity of the retinopathy consists of pathological myopia with anomalous vitreal fenestrated membranes in the retinal periphery. We suppose that these associations may configure a new genetic syndrome.

Parenchymal Neurocutaneous Melanosis in Association with Intraventricular Dermoid and Dandy-Walker Variant: A Case Report

PubMed Central

Won, Yoo Dong; Kim, Ki Tae; Chang, Eun Deok; Huh, Pil Woo

2006-01-01

Neurocutaneous melanosis (NCM) is a rare congenital disease that is characterized by the presence of large or multiple congenital melanocytic nevi and melanotic lesions of the central nervous system. We report here on the CT and MR imaging findings of an unusual case of NCM that was associated with intraventricular dermoid and Dandy-Walker malformation. PMID:16799276

Generalized atrophic dells in a newborn.

PubMed

Buka, Robert L; Roberts, Brandie J; Resh, Brooke; Newbury, Robert; Cunningham, Bari B

2006-07-01

Infantile myofibromatosis (IM) is a nonmetastasizing locally invasive neoplasm. The behavior of the tumor is more hamartomatous than tumoral, and it is unclear whether the cell of origin is a fibroblast or a smooth muscle myocyte. Lesions typically present during infancy and range in size from a few millimeters to several centimeters. We present an unusual case of a patient with an atrophic variant of IM.

Bickerstaff's encephalitis

PubMed Central

Horton, Emma; Krishnamoorthy, Sanjay; Reynolds, Lucy

2014-01-01

Bickerstaff's brainstem encephalitis is a rare syndrome defined by the triad of ophthalmoplegia, ataxia and decreased consciousness. It is considered to be a variant of Miller Fisher syndrome and Guillain-Barré syndrome but is differentiated from the two by the presence of central nervous system involvement, commonly in the form of impaired consciousness. We present an unusual case of Bickerstaff's encephalitis, where the patient presented with pseudobulbar affect. PMID:25080547

Tick-Borne Encephalitis with Hemorrhagic Syndrome, Novosibirsk Region, Russia, 1999

PubMed Central

Ternovoi, Vladimir A.; Kurzhukov, Gennady P.; Sokolov, Yuri V.; Ivanov, Gennady Y.; Ivanisenko, Vladimir A.; Loktev, Alexander V.; Ryder, Robert W.; Netesov, Sergey V.

2003-01-01

Eight fatal cases of tick-borne encephalitis with unusual hemorrhagic syndrome were identified in 1999 in the Novosibirsk Region, Russia. To study these strains, we sequenced cDNA fragments of protein E gene from six archival formalin-fixed brain samples. Phylogenetic analysis showed tick-borne encephalitis variants clustered with a Far Eastern subtype (homology 94.7%) but not with the Siberian subtype (82%). PMID:12781020

Maxillary molars with morphologic variations of the palatal root canals: a report of four cases.

PubMed

Holderrieth, Silke; Gernhardt, Christian Ralf

2009-07-01

The purpose of this article was to show the importance of the knowledge of the anatomy of root canals. Unusual root and root canal morphologies associated with both buccal roots of upper molars have been recorded in several studies in the literature. However, scientific information focusing on variations of the palatal root is rare. In this report, four cases are presented involving the root canal treatment of maxillary first and second molars with unusual morphologic configurations of the palatal root canals. During root canal treatment, type IV and V configurations as defined by Vertucci of the palatal canals of two first and two second maxillary molars were identified. After mechanical instrumentation, the canals were obturated. Radiologic and clinical re-evaluation showed no signs of inflammation. This report describes and discusses the possibility of different root and canal variations of the maxillary molars from a clinical point of view. Anatomic variations can occur in any tooth, and palatal roots of maxillary first and second molars are no exception. Therefore, careful examination of radiographs and internal anatomy of teeth is essential.

Primary squamous cell carcinoma of the breast with unusual basal-HER2 phenotype.

PubMed

Shui, Ruohong; Li, Anqi; Yang, Fei; Zhou, Xiaoyan; Yu, Baohua; Xu, Xiaoli; Yang, Wentao

2014-01-01

To report three cases of primary squamous cell carcinoma of the breast with an unusual "basal-HER2" phenotype. Clinical data were analyzed. Morphological features were observed. Immunohistochemical study for ER, PR, HER2, Ki-67, CK 5/6, CK10/13, CK14, EGFR, P63 and FISH detection of HER2 gene amplification were performed. Three patients were all female with 26, 57 and 66 years old. The tumors were 3 cm, 4 cm and 5 cm in size respectively. Morphologically, all three tumors were pure squamous cell carcinoma and entirely composed metaplastic squamous cells. Two tumors were moderately differentiated and one was poorly differentiated. All three patients were positive for P63 or CK10/13. All three tumors exhibited basal-HER2 phenotype: negative for ER and PR, positive for HER2 protein and HER2 gene amplification, and positive for at least two basal markers. SCC with basal-HER2 phenotype is an extremely rare subset of breast carcinoma. Since it may have worse prognosis than typical basal-like SCC, recognization of this unusual SCC in routine work may have obvious clinical significance.

ABC Triblock Copolymer Vesicles with Mesh-like Morphology

NASA Astrophysics Data System (ADS)

Zhao, Wei; Russell, Thomas; Grason, Gregory

2010-03-01

Polymer vesicles can be made from poly(isoprene-b-styrene-b-2-vinylpyridene) (PI-b-PS-b-P2VP) triblock copolymer under the confinement of anodic aluminum oxide (AAO) membrane. It was found that these vesicles have well-defined, nanoscopic size and a microphase-separated hydrophobic core, comprised of PS and PI blocks. Vesicle formation was tracked using both transmission and scanning electron microscopy. A mesh-like morphology formed in the core at a well-defined composition of three blocks. Confinement played an important role in generating these vesicles with such an unusual morphology.

Structural analysis of two length variants of the rDNA intergenic spacer from Eruca sativa.

PubMed

Lakshmikumaran, M; Negi, M S

1994-03-01

Restriction enzyme analysis of the rRNA genes of Eruca sativa indicated the presence of many length variants within a single plant and also between different cultivars which is unusual for most crucifers studied so far. Two length variants of the rDNA intergenic spacer (IGS) from a single individual E. sativa (cv. Itsa) plant were cloned and characterized. The complete nucleotide sequences of both the variants (3 kb and 4 kb) were determined. The intergenic spacer contains three families of tandemly repeated DNA sequences denoted as A, B and C. However, the long (4 kb) variant shows the presence of an additional repeat, denoted as D, which is a duplication of a 224 bp sequence just upstream of the putative transcription initiation site. Repeat units belonging to the three different families (A, B and C) were in the size range of 22 to 30 bp. Such short repeat elements are present in the IGS of most of the crucifers analysed so far. Sequence analysis of the variants (3 kb and 4 kb) revealed that the length heterogeneity of the spacer is located at three different regions and is due to the varying copy numbers of repeat units belonging to families A and B. Length variation of the spacer is also due to the presence of a large duplication (D repeats) in the 4 kb variant which is absent in the 3 kb variant. The putative transcription initiation site was identified by comparisons with the rDNA sequences from other plant species.

[How often is breast fibroadenomatosis asymptomatic?].

PubMed

Li, L A; Martyniuk, V V; Neĭshtadt, E L

1999-01-01

The results of clinico-morphological examinations of 386 women having no complains of discomfort in the mammary glands are presented. Methods of palpation, mammography and morphological investigation have detected fibroadenomatosis without subjective symptoms of the disease in 38%, 67% and 78% of the patients correspondingly. This variant of the disease is called asymptomatic since the woman can not notice it and so it is out of the field of attention of oncologists. High incidence of asymptomatic fibroadenomatosis requires a revision of the current assessment of it as a disease because it does not take into account a variant of the disease when the patient has no complains of painful indurations in the mammary glands.

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

PubMed

Garavelli, Livia; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Albertini, Enrico; Guareschi, Elisa; Longo, Caterina; Albertini, Giuseppe; Gelmini, Chiara; Greco, Chiara; Errico, Stefania; Savino, Gustavo; Pavanello, Marco; Happle, Rudolf; Unger, Sheila; Superti-Furga, Andrea; Grzeschik, Karl-Heinz

2013-07-01

Focal dermal hypoplasia (FDH; Goltz-Gorlin syndrome; OMIM 305600) is a disorder that features involvement of the skin, skeletal system, and eyes. It is caused by loss-of-function mutations in the PORCN gene. We report a young girl with FDH, microphthalmos associated with colobomatous orbital cyst, dural ectasia and cystic malformation of the spinal cord, and a de novo variant in PORCN. This association has not been previously reported, and based on these observations the phenotypic spectrum of FDH might be broader than previously appreciated. It would be prudent to alter the suggested surveillance for this rare disorder. Copyright © 2013 Wiley Periodicals, Inc.

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.

PubMed

Rodríguez, L; Zollino, M; Mansilla, E; Martínez-Fernández, M L; Pérez, P; Murdolo, M; Martínez-Frías, M L

2007-05-01

We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.

The identification of two unusual types of homemade ammunition.

PubMed

Lee, Hsieh-Chang; Meng, Hsien-Hui

2012-07-01

Illegal homemade ammunition is commonly used by criminals to commit crimes in Taiwan. Two unusual types of homemade ammunition that most closely resembling genuine ammunition are studied here. Their genuine counterparts are studied as the control samples for the purpose of comparison. Unfired ammunition is disassembled, and the morphological, dimensional, and compositional features of the bullet and cartridge case are examined. Statistical tests are employed to distinguish the dimensional differences between homemade and genuine ammunitions. Manufacturing marks on head stamps of the cartridge case are carefully examined. Compositional features of propellant powders, primer mixtures, and gunshot residues are also analyzed. The results reveal that the morphological, dimensional, and compositional features of major parts of the ammunition can be employed to differentiate homemade cartridges from genuine ones. Among these features, tool marks on the head stamps left by the bunter can be used to trace the origin of ammunition. © 2012 American Academy of Forensic Sciences.

Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.

PubMed

Ribeiro, Diogo; Duarte, Ana Joana; Amaral, Olga

2011-03-01

Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only the most common variant but also one of the most prevalent lysosomal storage diseases. Additionally, this variant might also show a higher prevalence in populations of Portuguese and Spanish ancestry. A single mutation is invariably present in at least one of the alleles of B1 variant patients, HEXA mutation c.533G >A. To implement a method for c.533G >A testing in individuals and populations, we have optimized two distinct mutation analysis techniques, one based on restriction fragment length polymorphism analysis and the other based on allelic discrimination. We present the comparison of both methods and their advantages. Mutation screening by allelic discrimination proved to be particularly useful for the studying of large samples of individuals. It is time saving and highly reproducible, and under the conditions used, its cost is lower than the cost of polymerase chain reaction-based restriction fragment length polymorphism analysis.

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

PubMed Central

Baker, Kate; Gordon, Sarah L.; Grozeva, Detelina; van Kogelenberg, Margriet; Roberts, Nicola Y.; Pike, Michael; Blair, Edward; Hurles, Matthew E.; Chong, W. Kling; Baldeweg, Torsten; Kurian, Manju A.; Boyd, Stewart G.; Cousin, Michael A.; Raymond, F. Lucy

2015-01-01

Synaptotagmin-1 (SYT1) is a calcium-binding synaptic vesicle protein that is required for both exocytosis and endocytosis. Here, we describe a human condition associated with a rare variant in SYT1. The individual harboring this variant presented with an early onset dyskinetic movement disorder, severe motor delay, and profound cognitive impairment. Structural MRI was normal, but EEG showed extensive neurophysiological disturbances that included the unusual features of low-frequency oscillatory bursts and enhanced paired-pulse depression of visual evoked potentials. Trio analysis of whole-exome sequence identified a de novo SYT1 missense variant (I368T). Expression of rat SYT1 containing the equivalent human variant in WT mouse primary hippocampal cultures revealed that the mutant form of SYT1 correctly localizes to nerve terminals and is expressed at levels that are approximately equal to levels of endogenous WT protein. The presence of the mutant SYT1 slowed synaptic vesicle fusion kinetics, a finding that agrees with the previously demonstrated role for I368 in calcium-dependent membrane penetration. Expression of the I368T variant also altered the kinetics of synaptic vesicle endocytosis. Together, the clinical features, electrophysiological phenotype, and in vitro neuronal phenotype associated with this dominant negative SYT1 mutation highlight presynaptic mechanisms that mediate human motor control and cognitive development. PMID:25705886

Exploring the limits of sequence and structure in a variant βγ-crystallin domain of the protein absent in melanoma-1 (AIM1)

PubMed Central

Aravind, Penmatsa; Wistow, Graeme; Sharma, Yogendra; Sankaranarayanan, Rajan

2008-01-01

βγ-Crystallins belong to a superfamily of proteins in prokaryotes and eukaryotes that are based on duplications of a characteristic, highly conserved Greek Key motif. Most members of the superfamily in vertebrates are structural proteins of the eye lens that contain four motifs arranged as two structural domains. Absent in melanoma-1 (AIM1), an unusual member of the superfamily whose expression is associated with suppression of malignancy in melanoma, contains 12 βγ-crystallin motifs in six domains. Some of these motifs diverge considerably from the canonical motif sequence. AIM1g1, the first βγ-crystallin domain of AIM1, is the most variant of βγ-crystallin domains currently known. In order to understand the limits of sequence variation on the structure, we report the crystal structure of AIM1g1 at 1.9Å resolution. In spite of having changes in key residues, the domain retains the overall βγ-crystallin fold. The domain also contains an unusual extended surface loop that significantly alters the shape of the domain and its charge profile. This structure illustrates the resilience of the βγ fold to considerable sequence changes and its remarkable ability to adapt for novel functions. PMID:18582473

Warthin tumor-like papillary thyroid carcinoma with a minor dedifferentiated component: report of a case with clinicopathologic considerations.

PubMed

Amico, Paolo; Lanzafame, Salvatore; Li Destri, Giovanni; Greco, Paolo; Caltabiano, Rosario; Vecchio, Giada Maria; Magro, Gaetano

2010-01-01

Warthin tumor-like papillary thyroid carcinoma is an uncommon variant of papillary thyroid carcinoma. We report a rare case of Warthin tumor-like variant of papillary thyroid carcinoma with a dedifferentiated component consisting of a solid tumor area composed of neoplastic cells with a spindle to tall cell morphology associated with marked nuclear pleomorphism, atypical mitoses, and foci of necrosis. Although our patient presented with a locally aggressive disease (T3 N1b Mo), she is disease-free without radioiodine therapy after a 23-month follow-up period. We emphasize that Warthin tumor-like papillary thyroid carcinoma, like other morphological variants of papillary carcinoma, may occasionally undergo dedifferentiation. As this component may be only focally detectable, we suggest an extensive sampling of all large-sized (>3 cm) papillary thyroid carcinoma. Recognition of any dedifferentiated component in a Warthin tumor-like papillary thyroid carcinoma should be reported, including its percentage, because it may reflect a more aggressive clinical course.

Warthin Tumor-Like Papillary Thyroid Carcinoma with a Minor Dedifferentiated Component: Report of a Case with Clinicopathologic Considerations

PubMed Central

Amico, Paolo; Lanzafame, Salvatore; Li Destri, Giovanni; Greco, Paolo; Caltabiano, Rosario; Vecchio, Giada Maria; Magro, Gaetano

2010-01-01

Warthin tumor-like papillary thyroid carcinoma is an uncommon variant of papillary thyroid carcinoma. We report a rare case of Warthin tumor-like variant of papillary thyroid carcinoma with a dedifferentiated component consisting of a solid tumor area composed of neoplastic cells with a spindle to tall cell morphology associated with marked nuclear pleomorphism, atypical mitoses, and foci of necrosis. Although our patient presented with a locally aggressive disease (T3 N1b Mo), she is disease-free without radioiodine therapy after a 23-month follow-up period. We emphasize that Warthin tumor-like papillary thyroid carcinoma, like other morphological variants of papillary carcinoma, may occasionally undergo dedifferentiation. As this component may be only focally detectable, we suggest an extensive sampling of all large-sized (>3 cm) papillary thyroid carcinoma. Recognition of any dedifferentiated component in a Warthin tumor-like papillary thyroid carcinoma should be reported, including its percentage, because it may reflect a more aggressive clinical course. PMID:20593036

New isomalabaricane triterpenes from the marine sponge Stelletta globostellata that induce morphological changes in rat fibroblasts.

PubMed

Oku, N; Matsunaga, S; Wada, S i; Watabe, S; Fusetani, N

2000-02-01

Three new isomalabaricane triterpenes, 29-hydroxystelliferin D (2), 3-epi-29-hydroxystelliferin E (3), and 3-epi-29-hydroxystelliferin A (4), were isolated from the marine sponge Stelletta globostellata. Their structures, including absolute stereochemistry, were determined on the basis of spectral data and chemical methods. Rat fibroblasts treated with 0.2 microM of 2-4 exhibited unusual morphological characteristics, followed by death in 5 days.

Sternal foramina and variant xiphoid morphology in a Kenyan population.

PubMed

El-Busaid, H; Kaisha, W; Hassanali, J; Hassan, S; Ogeng'o, J; Mandela, P

2012-02-01

Sternal foramina may pose a great hazard during sternal puncture, due to inadvertent cardiac or great vessel injury. They can also be misinterpreted as osteolytic lesions in cross-sectional imaging of the sternum. On the other hand, variant xiphoid morphology such as bifid, duplicated, or trifurcated may be mistaken for fractures during imaging. The distribution of these anomalies differs between populations, but data from Africans is scarcely reported. This study therefore aimed to investigate the distribution and frequency of sternal foramina and variant xiphoid morphology in a Kenyan population. Eighty formalin-fixed adult sterna (42 males [M], 38 females [F]) of age range 18-45 years were studied during dissection at the Department of Human Anatomy, University of Nairobi. Soft tissues were removed from the macerated sterna by blunt dissection and foramina recorded in the manubrium, body, and xiphoid process. The xiphisternal ending was classified as single, bifurcated (2 xiphoid processes with a common stem), or duplicated (2 xiphoid processes with separate stems). Results were analysed using SPSS version 17.0. Foramina were present in 11 specimens (13.8%): 7 M, 4 F. The highest frequency was in the sternal body (n = 9), where they predominantly occurred at the 5th intercostal segment. Xiphoid foramina were present in 2 specimens (both males) (2.5%), while manubrial foramen was not encountered. The xiphisternum ended as a single process in 64 cases (34 M, 30 F) (80%). It bifurcated in 10 cases (5 M, 5 F) (12.5%), and duplicated in 6 cases (4 M, 2 F) (7.5%). There were no cases of trifurcation. Sternal foramina in Kenyans vary in distribution and show higher frequency than in other populations. These variations may complicate sternal puncture, and due caution is recommended. The variant xiphisternal morphology may raise alarm for xiphoid fractures and may therefore be considered a differential.

Degenerative jargon aphasia: unusual progression of logopenic/phonological progressive aphasia?

PubMed

Caffarra, Paolo; Gardini, Simona; Cappa, Stefano; Dieci, Francesca; Concari, Letizia; Barocco, Federica; Ghetti, Caterina; Ruffini, Livia; Prati, Guido Dalla Rosa

2013-01-01

Primary progressive aphasia (PPA) corresponds to the gradual degeneration of language which can occur as nonfluent/agrammatic PPA, semantic variant PPA or logopenic variant PPA. We describe the clinical evolution of a patient with PPA presenting jargon aphasia as a late feature. At the onset of the disease (ten years ago) the patient showed anomia and executive deficits, followed later on by phonemic paraphasias and neologisms, deficits in verbal short-term memory, naming, verbal and semantic fluency. At recent follow-up the patient developed an unintelligible jargon with both semantic and neologistic errors, as well as with severe deficit of comprehension which precluded any further neuropsychological assessment. Compared to healthy controls, FDG-PET showed a hypometabolism in the left angular and middle temporal gyri, precuneus, caudate, posterior cingulate, middle frontal gyrus, and bilaterally in the superior temporal and inferior frontal gyri. The clinical and neuroimaging profile seems to support the hypothesis that the patient developed a late feature of logopenic variant PPA characterized by jargonaphasia and associated with superior temporal and parietal dysfunction.

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

PubMed Central

Duriez, Bénédicte; Duquesnoy, Philippe; Escudier, Estelle; Bridoux, Anne-Marie; Escalier, Denise; Rayet, Isabelle; Marcos, Elisabeth; Vojtek, Anne-Marie; Bercher, Jean-François; Amselem, Serge

2007-01-01

Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular processes via redox-mediated reactions. So far, none of the 18 members of this family has been involved in human pathology. Here we identified TXNDC3, which encodes a thioredoxin–nucleoside diphosphate kinase, as a gene implicated in primary ciliary dyskinesia (PCD), a genetic condition characterized by chronic respiratory tract infections, left–right asymmetry randomization, and male infertility. We show that the disease, which segregates as a recessive trait, results from the unusual combination of the following two transallelic defects: a nonsense mutation and a common intronic variant found in 1% of control chromosomes. This variant affects the ratio of two physiological TXNDC3 transcripts: the full-length isoform and a novel isoform, TXNDC3d7, carrying an in-frame deletion of exon 7. In vivo and in vitro expression data unveiled the physiological importance of TXNDC3d7 (whose expression was reduced in the patient) and the corresponding protein that was shown to bind microtubules. PCD is known to result from defects of the axoneme, an organelle common to respiratory cilia, embryonic nodal cilia, and sperm flagella, containing dynein arms, with, to date, the implication of genes encoding dynein proteins. Our findings, which identify a another class of molecules involved in PCD, disclose the key role of TXNDC3 in ciliary function; they also point to an unusual mechanism underlying a Mendelian disorder, which is an SNP-induced modification of the ratio of two physiological isoforms generated by alternative splicing. PMID:17360648

Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene.

PubMed

Backer, Julie De; Braverman, Alan C

2018-05-01

Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease. Mitral- and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the Fibrillin1 gene. Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St. Louis (US). We report on three cases from two families presenting end-stage heart failure (in two) and lethal arrhythmias associated with moderate left ventricular dilatation (in one). All three cases harbor a pathogenic variant in the SMAD3 gene, known to cause aneurysm osteoarthritis syndrome, Loeys-Dietz syndrome type 3 or isolated Heritable Thoracic Aortic Disease. These unusual presentations warrant awareness for myocardial disease in patients harboring pathogenic variants in genes causing Heritable Thoracic Aortic Disease and indicate the need for prospective studies in larger cohorts. © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

An unusual case of calcineurine inhibitor pain syndrome.

PubMed

Nickavar, Azar; Mehrazma, Mitra; Hallaji, Farideh

2014-09-01

Cyclosporine induced pain syndrome (CIPS) is a newly diagnosed complication of calcineurine inhibitors, mainly observed in solid organ and hematopoetic transplantations. The present case is a male child with steroid resistant nephrotic syndrome on low therapeutic level cyclosporine treatment. He presented with intractable and debilitating leg pain, with no reported history of previous injury or trauma. The pain was reluctant to antimicrobial and sedative treatment. MRI revealed bone marrow and soft tissue edema in the mid shaft of patient's right leg. Inspite of unusual manifestations, CIPS was suggested and cyclosporine discontinued. However, the pain did not improve and was resistant to calcium blocker. Subsequently, core decompression was performed as an unusual treatment of CIPS, revealing normal bone morphology. The pain improved rapidly and the patient was discharged a few days later.

Phase field modeling of tetragonal to monoclinic phase transformation in zirconia

NASA Astrophysics Data System (ADS)

Mamivand, Mahmood

Zirconia based ceramics are strong, hard, inert, and smooth, with low thermal conductivity and good biocompatibility. Such properties made zirconia ceramics an ideal material for different applications form thermal barrier coatings (TBCs) to biomedicine applications like femoral implants and dental bridges. However, this unusual versatility of excellent properties would be mediated by the metastable tetragonal (or cubic) transformation to the stable monoclinic phase after a certain exposure at service temperatures. This transformation from tetragonal to monoclinic, known as LTD (low temperature degradation) in biomedical application, proceeds by propagation of martensite, which corresponds to transformation twinning. As such, tetragonal to monoclinic transformation is highly sensitive to mechanical and chemomechanical stresses. It is known in fact that this transformation is the source of the fracture toughening in stabilized zirconia as it occurs at the stress concentration regions ahead of the crack tip. This dissertation is an attempt to provide a kinetic-based model for tetragonal to monoclinic transformation in zirconia. We used the phase field technique to capture the temporal and spatial evolution of monoclinic phase. In addition to morphological patterns, we were able to calculate the developed internal stresses during tetragonal to monoclinic transformation. The model was started form the two dimensional single crystal then was expanded to the two dimensional polycrystalline and finally to the three dimensional single crystal. The model is able to predict the most physical properties associated with tetragonal to monoclinic transformation in zirconia including: morphological patterns, transformation toughening, shape memory effect, pseudoelasticity, surface uplift, and variants impingement. The model was benched marked with several experimental works. The good agreements between simulation results and experimental data, make the model a reliable tool for predicting tetragonal to monoclinic transformation in the cases we lack experimental observations.

Localized and persistent erythema nodosum leprosum - a rare variant?

PubMed

Prabhu, Smitha; Rao, Raghavendra; Sripathi, H; Rao, Laxmi; Singh, Ridhi

2008-03-15

Erythema nodosum leprosum (ENL) or Type-2 Lepra reaction is a manifestation of type III hypersensitivity response and usually occurs in certain cases of lepromatous and borderline lepromatous leprosy. It is usually generalized and evanescent, and responds well to oral corticosteroid therapy. Here we report an unusual case of persistent and localized ENL in a 19-year-old girl, which could be diagnosed with the aid of skin biopsy and histopathological examination.

A genetic study of Wilson’s disease in the United Kingdom

PubMed Central

Coffey, Alison J.; Durkie, Miranda; Hague, Stephen; McLay, Kirsten; Emmerson, Jennifer; Lo, Christine; Klaffke, Stefanie; Joyce, Christopher J.; Dhawan, Anil; Hadzic, Nedim; Mieli-Vergani, Giorgina; Kirk, Richard; Elizabeth Allen, K.; Nicholl, David; Wong, Siew; Griffiths, William; Smithson, Sarah; Giffin, Nicola; Taha, Ali; Connolly, Sally; Gillett, Godfrey T.; Tanner, Stuart; Bonham, Jim; Sharrack, Basil; Palotie, Aarno; Rattray, Magnus; Dalton, Ann

2013-01-01

Previous studies have failed to identify mutations in the Wilson’s disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with clinically and biochemically confirmed Wilson’s disease. A total of 116 different ATP7B mutations were detected, 32 of which are novel. The overall mutation detection frequency was 98%. The likelihood of mutations in genes other than ATP7B causing a Wilson’s disease phenotype is therefore very low. We report the first cases with Wilson’s disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mutations and three families with Wilson’s disease in two consecutive generations. We determined the genetic prevalence of Wilson’s disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects. The frequency of all single nucleotide variants with in silico evidence of pathogenicity (Class 1 variant) was 0.056 or 0.040 if only those single nucleotide variants that had previously been reported as mutations in patients with Wilson’s disease were included in the analysis (Class 2 variant). The frequency of heterozygote, putative or definite disease-associated ATP7B mutations was therefore considerably higher than the previously reported occurrence of 1:90 (or 0.011) for heterozygote ATP7B mutation carriers in the general population (P < 2.2 × 10-16 for Class 1 variants or P < 5 × 10-11 for Class 2 variants only). Subsequent exclusion of four Class 2 variants without additional in silico evidence of pathogenicity led to a further reduction of the mutation frequency to 0.024. Using this most conservative approach, the calculated frequency of individuals predicted to carry two mutant pathogenic ATP7B alleles is 1:7026 and thus still considerably higher than the typically reported prevalence of Wilson’s disease of 1:30 000 (P = 0.00093). Our study provides strong evidence for monogenic inheritance of Wilson’s disease. It also has major implications for ATP7B analysis in clinical practice, namely the need to consider unusual genetic mechanisms such as uniparental disomy or the possible presence of three ATP7B mutations. The marked discrepancy between the genetic prevalence and the number of clinically diagnosed cases of Wilson’s disease may be due to both reduced penetrance of ATP7B mutations and failure to diagnose patients with this eminently treatable disorder. PMID:23518715

Photosynthetic microorganism-mediated synthesis of akaganeite (beta-FeOOH) nanorods.

PubMed

Brayner, Roberta; Yéprémian, Claude; Djediat, Chakib; Coradin, Thibaud; Herbst, Fréderic; Livage, Jacques; Fiévet, Fernand; Couté, Alain

2009-09-01

Common Anabaena and Calothrix cyanobacteria and Klebsormidium green algae are shown to form intracellularly akaganeite beta-FeOOH nanorods of well-controlled size and unusual morphology at room temperature. X-ray diffraction (XRD), transmission electron microscopy (TEM), and scanning electron microscopy X-ray energy dispersive spectrometry (SEM-EDS) analyses are used to investigate particle structure, size, and morphology. A mechanism involving iron-siderophore complex formation is proposed and compared with iron biomineralization in magnetotactic bacteria.

Ontogeny of the cranial system in Laonastes aenigmamus

PubMed Central

Herrel, Anthony; Fabre, Anne-Claire; Hugot, Jean-Pierre; Keovichit, Kham; Adriaens, Dominique; Brabant, Loes; Van Hoorebeke, Luc; Cornette, Raphael

2012-01-01

Rodents, together with bats, are among the ecologically most diverse and most speciose groups of mammals. Moreover, rodents show elaborate specializations of the feeding apparatus in response to the predominantly fore-aft movements of the lower jaw. The Laotian rock rat Laonastes aenigmamus was recently discovered and originally thought to belong to a new family. The difficulties in classifying L. aenigmamus based on morphological characters stem from the fact that it presents a mixture of sciurognathous and hystricognathous characteristics, including the morphology of the jaw adductors. The origin of the unusual muscular organization in this species remains, however, unclear. Here, we investigate the development of the masticatory system in Laonastes to better understand the origin of its derived morphology relative to other rodents. Our analyses show that skull and mandible development is characterized by an overall elongation of the snout region. Muscle mass increases with positive allometry during development and growth, and so does the force-generating capacity of the jaw adductor muscles (i.e. physiological cross-sectional area). Whereas fetal crania and musculature are more similar to those of typical rodents, adults diverge in the elongation of the rostral part of the skull and the disproportionate development of the zygomaticomandibularis. Our data suggest a functional signal in the development of the unusual cranial morphology, possibly associated with the folivorous trophic ecology of the species. PMID:22607030

Low-Pass Genome-Wide Sequencing and Variant Inference Using Identity-by-Descent in an Isolated Human Population

PubMed Central

Gusev, A.; Shah, M. J.; Kenny, E. E.; Ramachandran, A.; Lowe, J. K.; Salit, J.; Lee, C. C.; Levandowsky, E. C.; Weaver, T. N.; Doan, Q. C.; Peckham, H. E.; McLaughlin, S. F.; Lyons, M. R.; Sheth, V. N.; Stoffel, M.; De La Vega, F. M.; Friedman, J. M.; Breslow, J. L.

2012-01-01

Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In such populations, shared haplotypes allow imputation of variants in unsequenced samples without resorting to complex statistical methods as in studies of outbred cohorts. We focus on an isolated population cohort from the Pacific Island of Kosrae, Micronesia, where we previously collected SNP array and rich phenotype data for the majority of the population. We report identification of long regions with haplotypes co-inherited between pairs of individuals and methodology to leverage such shared genetic content for imputation. Our estimates show that sequencing as few as 40 personal genomes allows for inference in up to 60% of the 3000-person cohort at the average locus. We ascertained a pilot data set of whole-genome sequences from seven Kosraean individuals, with average 5× coverage. This assay identified 5,735,306 unique sites of which 1,212,831 were previously unknown. Additionally, these variants are unusually enriched for alleles that are rare in other populations when compared to geographic neighbors (published Korean genome SJK). We used the presence of shared haplotypes between the seven Kosraen individuals to estimate expected imputation accuracy of known and novel homozygous variants at 99.6% and 97.3%, respectively. This study presents whole-genome analysis of a homogenous isolate population with emphasis on optimal rare variant inference. PMID:22135348

Human MHC architecture and evolution: implications for disease association studies

PubMed Central

Traherne, J A

2008-01-01

Major histocompatibility complex (MHC) variation is a key determinant of susceptibility and resistance to a large number of infectious, autoimmune and other diseases. Identification of the MHC variants conferring susceptibility to disease is problematic, due to high levels of variation and linkage disequilibrium. Recent cataloguing and analysis of variation over the complete MHC has facilitated localization of susceptibility loci for autoimmune diseases, and provided insight into the MHC's evolution. This review considers how the unusual genetic characteristics of the MHC impact on strategies to identify variants causing, or contributing to, disease phenotypes. It also considers the MHC in relation to novel mechanisms influencing gene function and regulation, such as epistasis, epigenetics and microRNAs. These developments, along with recent technological advances, shed light on genetic association in complex disease. PMID:18397301

Use of a series of chemostat cultures to isolate 'improved' variants of the Quorn mycoprotein fungus, Fusarium graminearum A3/5.

PubMed

Wiebe, M G; Robson, G D; Oliver, S G; Trinci, A P

1994-11-01

Variants (designated A23-S and A24-S) of the Quorn myco-protein fungus, Fusarium graminearum A3/5 were isolated from a series of glucose-limited cultures grown at a dilution rate of 0.18 h-1 for a combined total of 109 d. These variants had unchanged mycelial morphologies but, when grown in mixed culture with the parental strain (A3/5) in glucose-limited chemostat culture at 0.18 h-1, A23-S and A24-S had selection coefficients of 0.013 and 0.017 h-1, respectively, and supplanted A3/5. When a monoculture of A23-S was grown in a glucose-limited culture at a dilution rate of 0.18 h-1, the appearance of highly branched (so-called colonial) mutants was delayed compared with their appearance in chemostat cultures of the parental strain. Furthermore, when a monoculture of A24-S was grown in glucose-limited culture at 0.18 h-1, the appearance of colonial mutants was delayed even further. Thus, it is possible to isolate advantageous (relative to A3/5) variants of F. graminearum A3/5 which have unchanged mycelial morphologies, but in which the appearance of colonial mutants is delayed.

Disseminated Kaposi sarcoma with epithelioid morphology in an HIV/AIDS patient: A previously unreported variant.

PubMed

Basra, Pukhraz; Paramo, Juan; Alexis, John

2018-04-16

Kaposi sarcoma is an oligoclonal HHV-8-driven vascular proliferation that was first described by a Viennese dermatologist Dr Moritz Kaposi. The disease has been seen in different clinical-epidemiological settings with a wide morphologic spectrum. We report a 52-year-old Caucasian man with HIV/AIDS and Kaposi sarcoma who presented with dyspnea and pleural effusion. He reported numerous tender subcutaneous nodules developing over the past few months on his chest, back and abdomen. An excisional biopsy of one of the nodules was performed. Touch preps revealed malignant cells in clusters. Microscopically, the neoplasm appeared undifferentiated with an epithelioid morphology, and involved the dermis and subcutaneous fat. Despite the medical history, Kaposi sarcoma was not considered foremost in the differential diagnosis. The malignant cells were positive for vimentin and negative for S100 protein, keratin AE1/3, CK7, CK20, napsin A, TTF-1 and synaptophysin. Additional stains revealed positivity for HHV-8, CD31 and D2-40, supporting the diagnosis of Kaposi sarcoma. Kaposi sarcoma has been well described with many variants that may cause diagnostic difficulty. An epithelioid variant has not been reported and consequently, may cause misinterpretation of an otherwise well-known entity that may become life threatening if appropriate treatment is not initiated in a timely manner. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Two species within Dedroctonus frontalis (Coleoptera: Curculionidae): evidence from morphological, karyological, molecular, and crossing studies.

Treesearch

Francisco Armendariz-Toledano; Alicia Nino; Brian Sullivan; Jorge Macias-Samano; Javier Victor; Stephen R. Clarke; Gerardo Zuniga

2014-01-01

Dendroctonus frontalis Zimmermann is considered one of the most important economic and ecological forest pests in the United States, Mexico, and Central America. Recently, two apparent morphological variants of this species were discovered occurring syntopically in Central America and southern Mexico. Morphotype A beetles lack a series of Þne parallel ridges on the...

[Death in a rainwater tank--unusual death by hypothermia].

PubMed

Doberentz, Elke; Madea, Burkhard

2013-01-01

Death due to hypothermia is often accidental and associated with alcohol intoxication, diseases or previous trauma. A very rare phenomenon is suicidal hypothermia. A 74-year-old depressive woman was found dead in a rain barrel with her head above the water level in February at an outdoor temperature of 0 degrees C. Forensic autopsy did not reveal any findings typical of drowning. Likewise, there was no morphological evidence of hypothermia, but this cannot be expected in immersion hypothermia with a very short agony. Unusual situations at scene always require comprehensive police investigations and medicolegal examinations.

Single-rooted maxillary first molar with a single canal: endodontic retreatment.

PubMed

de la Torre, Francisco; Cisneros-Cabello, Rafael; Aranguren, José Luis; Estévez, Roberto; Velasco-Ortega, Eugenio; Segura-Egea, Juan José

2008-12-01

This case report presents an unusual root canal system in a maxillary first molar tooth: a single canal in a single root. The endodontic access cavity displayed only 1 canal orifice. This case demonstrated that: 1) clinicians must have adequate knowledge about root canal morphology and its variations; 2) the location and morphology of root canals should be identified radiologically before the root canal treatment; and 3) careful examination of radiographs and the internal anatomy of teeth is essential.

Use of a novel FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of alveolar rhabdomyosarcoma.

PubMed

Nishio, Jun; Althof, Pamela A; Bailey, Jacqueline M; Zhou, Ming; Neff, James R; Barr, Frederic G; Parham, David M; Teot, Lisa; Qualman, Stephen J; Bridge, Julia A

2006-06-01

A valuable diagnostic adjunct and important prognostic parameter in alveolar rhabdomyosarcoma (ARMS) is the identification of translocations t(2;13)(q35;q14) and t(1;13)(p36;q14), and the associated PAX3-FKHR and PAX7-FKHR fusion transcripts, respectively. Most RMS fusion gene type studies have been based on reverse transcriptase-polymerase chain reaction (RT-PCR) detection of the fusion transcript, a technique limited by RNA quality and failure of devised primer sets to detect unusual variants. As an alternative approach, we developed a fluorescence in situ hybridization (FISH) assay that can: (1) distinguish between the two most common ARMS-associated fusion genes; (2) identify potential unusual variant translocations; (3) assess histologic components in mixed alveolar/embryonal RMS; and (4) be performed on paraffinized tissue. FISH analyses of 75 specimens (40 ARMS, 16 ERMS, 8 mixed ARMS/ERMS, and 11 non-RMS tumors) using selected cosmid clone, bacterial, P1-derived, and yeast artificial chromosome probe sets were successful in all but two cases. Among specimens with informative results for both FISH and RT-PCR or standard karyotyping, PAX/FKHR classification results were concordant in 94.6% (53/56). The three discordant cases included one exhibiting a t(2;13) by FISH that was subsequently confirmed by repeat RT-PCR, a second showing a rearrangement of the PAX3 locus only (consistent with the presence of a PAX3 variant translocation), and a third revealing a t(2;13) by FISH that lacked this translocation cytogenetically. Both alveolar and embryonal components of the mixed ARMS/ERMS subtype were negative for PAX3, PAX7, and FKHR rearrangements, a surprising finding confirmed by RT-PCR and/or conventional karyotyping. These data demonstrate that FISH with newly designed probe sets is a reliable and highly specific method of detecting t(1;13) and t(2;13) in routinely processed tissue and may be useful in differentiating ARMS from other small round cell tumors. The findings also suggest that FISH may be a more sensitive assay than RT-PCR in some settings, capable of revealing variant translocations.

Bacillus Anthracis Comparative Genome Analysis in Support of the Amerithrax Investigation

DTIC Science & Technology

2011-02-02

ability to sporulate . The genomes of these morphological variants were sequenced and compared with that of the B. anthracis Ames ancestor, the progenitor of...mutations could be directly linked to sporulation pathways in B. anthracis and more specifically to the regulation of the phosphorylation state of Spo0F...a key regulatory protein in the initiation of the sporulation cascade, thus linking phenotype to genotype. None of these variant genotypes were

Phylogenetic relationships among morphotypes of Caesalpinia echinata Lam. (Caesalpinioideae: Leguminosae) evidenced by trnL intron sequences

NASA Astrophysics Data System (ADS)

Juchum, Fabrício Sacramento; Costa, Marco Antônio; Amorim, André Márcio; Corrêa, Ronan Xavier

2008-11-01

Caesalpinia echinata (brazilwood or Pernambuco wood) comprises a complex of three morphological leaf variants, characterized by differences in the number and size of the pinnae and leaflets, and occurring in allopatric and sympatric populations. The present study evaluates the utility of the chloroplast DNA trnL intron in a phylogenetic analysis of the three leaf variants along with other species of Caesalpinia and generic relatives. Our study supports the hypothesis that the name C. echinata designates a species complex and provides evidence that one of the forms, the highly divergent C. echinata large-leafleted variant, represents a distinct taxon.

[Pemphigus herpetiformis: a clinical variant of pemphigus vulgaris].

PubMed

Bauer, R; Orfanos, C E

1980-10-01

Two female patients are reported in whom the clinical picture closely corresponded to dermatitis herpetiformis Duhring or bullous pemphigoid, while acantholytic changes were present histologically. Indirect immunofluorescence revealed circulating pemphigus antibodies. Direct fluorescence showed deposits of IgG and complement in the intercellular space of the affected areas. One of the two patients responded well to DDS. There have been reports in the recent literature on bullous dermatoses, which can be regarded as morphological variants of pemphigus vulgaris. The term pemphigus herpetiformis is used here to designate these variants. The diagnosis can only be made by histological and immunological examinations in connection with the clinical picture.

Evolution of unusual morphologies in Lentibulariaceae (bladderworts and allies) and Podostemaceae (river-weeds): a pictorial report at the interface of developmental biology and morphological diversification

PubMed Central

Rutishauser, Rolf

2016-01-01

Background Various groups of flowering plants reveal profound (‘saltational’) changes of their bauplans (architectural rules) as compared with related taxa. These plants are known as morphological misfits that appear as rather large morphological deviations from the norm. Some of them emerged as morphological key innovations (perhaps ‘hopeful monsters’) that gave rise to new evolutionary lines of organisms, based on (major) genetic changes. Scope This pictorial report places emphasis on released bauplans as typical for bladderworts (Utricularia, approx. 230 secies, Lentibulariaceae) and river-weeds (Podostemaceae, three subfamilies, approx. 54 genera, approx. 310 species). Bladderworts (Utricularia) are carnivorous, possessing sucking traps. They live as submerged aquatics (except for their flowers), as humid terrestrials or as epiphytes. Most Podostemaceae are restricted to rocks in tropical river-rapids and waterfalls. They survive as submerged haptophytes in these extreme habitats during the rainy season, emerging with their flowers afterwards. The recent scientific progress in developmental biology and evolutionary history of both Lentibulariaceae and Podostemaceae is summarized. Conclusions Lentibulariaceae and Podostemaceae follow structural rules that are different from but related to those of more typical flowering plants. The roots, stems and leaves – as still distinguishable in related flowering plants – are blurred (‘fuzzy’). However, both families have stable floral bauplans. The developmental switches to unusual vegetative morphologies facilitated rather than prevented the evolution of species diversity in both families. The lack of one-to-one correspondence between structural categories and gene expression may have arisen from the re-use of existing genetic resources in novel contexts. Understanding what developmental patterns are followed in Lentibulariaceae and Podostemaceae is a necessary prerequisite to discover the genetic alterations that led to the evolution of these atypical plants. Future molecular genetic work on morphological misfits such as bladderworts and river-weeds will provide insight into developmental and evolutionary aspects of more typical vascular plants. PMID:26589968

Evolution of unusual morphologies in Lentibulariaceae (bladderworts and allies) and Podostemaceae (river-weeds): a pictorial report at the interface of developmental biology and morphological diversification.

PubMed

Rutishauser, Rolf

2016-04-01

Various groups of flowering plants reveal profound ('saltational') changes of their bauplans (architectural rules) as compared with related taxa. These plants are known as morphological misfits that appear as rather large morphological deviations from the norm. Some of them emerged as morphological key innovations (perhaps 'hopeful monsters') that gave rise to new evolutionary lines of organisms, based on (major) genetic changes. This pictorial report places emphasis on released bauplans as typical for bladderworts (Utricularia, approx. 230 secies, Lentibulariaceae) and river-weeds (Podostemaceae, three subfamilies, approx. 54 genera, approx. 310 species). Bladderworts (Utricularia) are carnivorous, possessing sucking traps. They live as submerged aquatics (except for their flowers), as humid terrestrials or as epiphytes. Most Podostemaceae are restricted to rocks in tropical river-rapids and waterfalls. They survive as submerged haptophytes in these extreme habitats during the rainy season, emerging with their flowers afterwards. The recent scientific progress in developmental biology and evolutionary history of both Lentibulariaceae and Podostemaceae is summarized. Lentibulariaceae and Podostemaceae follow structural rules that are different from but related to those of more typical flowering plants. The roots, stems and leaves - as still distinguishable in related flowering plants - are blurred ('fuzzy'). However, both families have stable floral bauplans. The developmental switches to unusual vegetative morphologies facilitated rather than prevented the evolution of species diversity in both families. The lack of one-to-one correspondence between structural categories and gene expression may have arisen from the re-use of existing genetic resources in novel contexts. Understanding what developmental patterns are followed in Lentibulariaceae and Podostemaceae is a necessary prerequisite to discover the genetic alterations that led to the evolution of these atypical plants. Future molecular genetic work on morphological misfits such as bladderworts and river-weeds will provide insight into developmental and evolutionary aspects of more typical vascular plants. © The Author 2015. Published by Oxford University Press on behalf of the Annals of Botany Company.

Efficacy of a commercial canarypox vaccine for protecting Hawai'i 'Amakihi from field isolates of avipoxvirus

USGS Publications Warehouse

Atkinson, Carter T.; Wiegand, Kimberly C.; Triglia, Dennis; Jarvi, Susan I.

2010-01-01

At least three variants of avian pox virus are present in Hawai’i - Fowlpox from domestic poultry and a group of genetically distinct viruses that cluster within two clades (Pox Variant 1 and Pox Variant 2) that are most similar to Canarypox based on DNA sequence of the virus 4b core protein gene. We tested whether Hawai’i ‘Amakihi can be protected from wild virus isolates with an attenuated live Canarypox vaccine that is closely related to isolates that cluster within clade 1 (Pox Variant 1) based on sequence of the attenuated Canarypox virus 4b core protein. Thirty-one (31) Hawai`i ‘Amakihi (Hemignathus virens) with no prior physical evidence of pox infection were collected on Mauna Kea from xeric, high elevation habitats with low pox prevalence and randomly divided into two groups. One group of 16 was vaccinated with Poximmune C® while the other group received a sham vaccination with virus diluent. Four of 15 (27%) vaccinated birds developed potentially life-threatening disseminated lesions or lesions of unusually long duration, while one bird never developed a vaccine-associated lesion or “take”. After vaccine-associated lesions healed, vaccinated birds were randomly divided into three groups of five and challenged with either a wild isolate of Fowlpox, a Hawai`i `Amakihi isolate of a Canarypox-like virus from clade 1 (Pox Variant 1) or a Hawai`i `Amakihi isolate of a Canarypox-like virus from clade 2 (Pox Variant 2). Similarly, three random groups of five unvaccinated ‘Amakihi were challenged with the same virus isolates. Vaccinated and unvaccinated ‘Amakihi challenged with Fowlpox had transient infections with no clinical signs of infection. Mortality in vaccinated ‘Amakihi that were challenged with Pox Variant 1 and Pox Variant 2 ranged from 0% (0/5) for Pox Variant 1 to 60% (3/5) for Pox Variant 2. Mortality in unvaccinated ‘Amakihi ranged from 40% (2/5) for Pox Variant 1 to 100% (5/5) for Pox Variant 2. While the vaccine provided some protection against Pox Variant 1, serious side effects and low efficacy against Pox Variant 2 make it risky to use in captive or wild honeycreepers.

Efficacy of commercial canarypox vaccine for protecting Hawai'i 'Amakihi from field isolates of Avipoxvirus

USGS Publications Warehouse

Atkinson, Carter T.; Wiegand, Kimberly C.; Triglia, Dennis; Jarvi, Susan I.

2010-01-01

At least three variants of avian pox virus are present in Hawai‘i - Fowlpox from domestic poultry and a group of genetically distinct viruses that cluster within two clades (Pox Variant 1 and Pox Variant 2) that are most similar to Canarypox based on DNA sequence of the virus 4b core protein gene. We tested whether Hawai‘i ‘Amakihi can be protected from wild virus isolates with an attenuated live Canarypox vaccine that is closely related to isolates that cluster within clade 1 (Pox Variant 1) based on sequence of the attenuated Canarypox virus 4b core protein. Thirty-one (31) Hawai`i ‘Amakihi (Hemignathus virens) with no prior physical evidence of pox infection were collected on Mauna Kea from xeric, high elevation habitats with low pox prevalence and randomly divided into two groups. One group of 16 was vaccinated with Poximmune C® while the other group received a sham vaccination with virus diluent. Four of 15 (27%) vaccinated birds developed potentially life-threatening disseminated lesions or lesions of unusually long duration, while one bird never developed a vaccine-associated lesion or "take". After vaccine-associated lesions healed, vaccinated birds were randomly divided into three groups of five and challenged with either a wild isolate of Fowlpox, a Hawai`i `Amakihi isolate of a Canarypox-like virus from clade 1 (Pox Variant 1) or a Hawai`i `Amakihi isolate of a Canarypox-like virus from clade 2 (Pox Variant 2). Similarly, three random groups of five unvaccinated ‘Amakihi were challenged with the same virus isolates. Vaccinated and unvaccinated ‘Amakihi challenged with Fowlpox had transient infections with no clinical signs of infection. Mortality in vaccinated ‘Amakihi that were challenged with Pox Variant 1 and Pox Variant 2 ranged from 0% (0/5) for Pox Variant 1 to 60% (3/5) for Pox Variant 2. Mortality in unvaccinated ‘Amakihi ranged from 40% (2/5) for Pox Variant 1 to 100% (5/5) for Pox Variant 2. While the vaccine provided some protection against Pox Variant 1, serious side effects and low efficacy against Pox Variant 2 make it risky to use in captive or wild honeycreepers.

Association of monoamine oxidase-A genetic variants and amygdala morphology in violent offenders with antisocial personality disorder and high psychopathic traits.

PubMed

Kolla, Nathan J; Patel, Raihaan; Meyer, Jeffrey H; Chakravarty, M Mallar

2017-08-29

Violent offending is elevated among individuals with antisocial personality disorder (ASPD) and high psychopathic traits (PP). Morphological abnormalities of the amygdala and orbitofrontal cortex (OFC) are present in violent offenders, which may relate to the violence enacted by ASPD + PP. Among healthy males, monoamine oxidase-A (MAO-A) genetic variants linked to low in vitro transcription (MAOA-L) are associated with structural abnormalities of the amygdala and OFC. However, it is currently unknown whether amygdala and OFC morphology in ASPD relate to MAO-A genetic polymorphisms. We studied 18 ASPD males with a history of violent offending and 20 healthy male controls. Genomic DNA was extracted from peripheral leukocytes to determine MAO-A genetic polymorphisms. Subjects underwent a T1-weighted MRI anatomical brain scan that provided vertex-wise measures of amygdala shape and surface area and OFC cortical thickness. We found that ASPD + PP subjects with MAOA-L exhibited decreased surface area in the right basolateral amygdala nucleus and increased surface area in the right anterior cortical amygdaloid nucleus versus healthy MAOA-L carriers. This study is the first to describe genotype-related morphological differences of the amygdala in a population marked by high aggression. Deficits in emotional regulation that contribute to the violence of ASPD + PP may relate to morphological changes of the amygdala under genetic control.

Cryptococcus neoformans of Unusual Morphology

PubMed Central

Cruickshank, J. G.; Cavill, R.; Jelbert, M.

1973-01-01

A case of primary cryptococcosis of the lungs was caused by an isolate of Cryptococcus neoformans that assumes a giant form in tissue but which has a normal appearance on artificial culture. Electron microscopy revealed gross enlargement of the capsule and plasma membranes in the tissue form. Images PMID:4121033

Identification of two new phylogenetically distant phytoplasmas from Senna surattensis plants exhibiting stem fasciation and shoot proliferation symptoms

USDA-ARS?s Scientific Manuscript database

Sunshine trees (Senna surattensis Burm.) exhibiting unusual stem fasciation symptoms were observed in Yunnan, China. Morphological abnormalities of the affected plants included enlargement and flattening of stems and excessive proliferation of shoots. An electron microscopic investigation revealed...

Guillain-Barré Syndrome: A Variant Consisting of Facial Diplegia and Paresthesia with Left Facial Hemiplegia Associated with Antibodies to Galactocerebroside and Phosphatidic Acid

PubMed Central

Nishiguchi, Sho; Branch, Joel; Tsuchiya, Tsubasa; Ito, Ryoji; Kawada, Junya

2017-01-01

Patient: Male, 54 Final Diagnosis: Guillain-Barré syndrome Symptoms: Paresthesia of extremities • unilateral facial palsy Medication: — Clinical Procedure: — Specialty: Neurology Objective: Unusual clinical course Background: A rare variant of Guillain-Barré syndrome (GBS) consists of facial diplegia and paresthesia, but an even more rare association is with facial hemiplegia, similar to Bell’s palsy. This case report is of this rare variant of GBS that was associated with IgG antibodies to galactocerebroside and phosphatidic acid. Case Report: A 54-year-old man presented with lower left facial palsy and paresthesia of his extremities, following an upper respiratory tract infection. Physical examination confirmed lower left facial palsy and paresthesia of his extremities with hyporeflexia of his lower limbs and sensory loss of all four extremities. The differential diagnosis was between a variant of GBS and Bell’s palsy. Following initial treatment with glucocorticoids followed by intravenous immunoglobulin (IVIG), his sensory abnormalities resolved. Serum IgG antibodies to galactocerebroside and phosphatidic acid were positive in this patient, but not other antibodies to glycolipids or phospholipids were found. Five months following discharge from hospital, his left facial palsy had improved. Conclusions: A case of a rare variant of GBS is presented with facial diplegia and paresthesia and with unilateral facial palsy. This rare variant of GBS may which may mimic Bell’s palsy. In this case, IgG antibodies to galactocerebroside and phosphatidic acid were detected. PMID:28966341

Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

PubMed

Renault, Anne-Laure; Mebirouk, Noura; Fuhrmann, Laetitia; Bataillon, Guillaume; Cavaciuti, Eve; Le Gal, Dorothée; Girard, Elodie; Popova, Tatiana; La Rosa, Philippe; Beauvallet, Juana; Eon-Marchais, Séverine; Dondon, Marie-Gabrielle; d'Enghien, Catherine Dubois; Laugé, Anthony; Chemlali, Walid; Raynal, Virginie; Labbé, Martine; Bièche, Ivan; Baulande, Sylvain; Bay, Jacques-Olivier; Berthet, Pascaline; Caron, Olivier; Buecher, Bruno; Faivre, Laurence; Fresnay, Marc; Gauthier-Villars, Marion; Gesta, Paul; Janin, Nicolas; Lejeune, Sophie; Maugard, Christine; Moutton, Sébastien; Venat-Bouvet, Laurence; Zattara, Hélène; Fricker, Jean-Pierre; Gladieff, Laurence; Coupier, Isabelle; Chenevix-Trench, Georgia; Hall, Janet; Vincent-Salomon, Anne; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Lesueur, Fabienne

2018-04-17

The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours. Morphology of ATM-associated tumours was compared with that of 599 patients with no BRCA1 and BRCA2 mutations from a hospital-based series, as well as with data from The Cancer Genome Atlas. Absolute copy number and loss of heterozygosity (LOH) profiles were obtained from the OncoScan SNP array. In addition, we performed whole-genome sequencing on four tumours from ATM loss-of-function variant carriers with available frozen material. We found that ATM-associated tumours belong mostly to the luminal B subtype, are tetraploid and show LOH at the ATM locus at 11q22-23. Unlike tumours in which BRCA1 or BRCA2 is inactivated, tumours arising in ATM deleterious variant carriers are not associated with increased large-scale genomic instability as measured by the large-scale state transitions signature. Losses at 13q14.11-q14.3, 17p13.2-p12, 21p11.2-p11.1 and 22q11.23 were observed. Somatic alterations at these loci may therefore represent biomarkers for ATM testing and harbour driver mutations in potentially 'druggable' genes that would allow patients to be directed towards tailored therapeutic strategies. Although ATM is involved in the DNA damage response, ATM-associated tumours are distinct from BRCA1-associated tumours in terms of morphological characteristics and genomic alterations, and they are also distinguishable from sporadic breast tumours, thus opening up the possibility to identify ATM variant carriers outside the ataxia-telangiectasia disorder and direct them towards effective cancer risk management and therapeutic strategies.

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

PubMed

Popp, Bernt; Trollmann, Regina; Büttner, Christian; Caliebe, Almuth; Thiel, Christian T; Hüffmeier, Ulrike; Reis, André; Zweier, Christiane

2016-10-01

Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c.1200del, p (Lys401Serfs*25) in GABRA1 as the likely cause of the early onset epilepsy. This unique case not only allows to further define the phenotypic spectrum of infantile epileptic encephalopathy associated with rare de novo GABRA1 variants but exemplifies the need for a sensitive review of unclear associations in clinically defined syndromes and for extended diagnostic work-up in individuals with unusual presentations of a genetically confirmed diagnosis. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Statistical Physics of Population Genetics in the Low Population Size Limit

NASA Astrophysics Data System (ADS)

Atwal, Gurinder

The understanding of evolutionary processes lends itself naturally to theory and computation, and the entire field of population genetics has benefited greatly from the influx of methods from applied mathematics for decades. However, in spite of all this effort, there are a number of key dynamical models of evolution that have resisted analytical treatment. In addition, modern DNA sequencing technologies have magnified the amount of genetic data available, revealing an excess of rare genetic variants in human genomes, challenging the predictions of conventional theory. Here I will show that methods from statistical physics can be used to model the distribution of genetic variants, incorporating selection and spatial degrees of freedom. In particular, a functional path-integral formulation of the Wright-Fisher process maps exactly to the dynamics of a particle in an effective potential, beyond the mean field approximation. In the small population size limit, the dynamics are dominated by instanton-like solutions which determine the probability of fixation in short timescales. These results are directly relevant for understanding the unusual genetic variant distribution at moving frontiers of populations.

An embodied view of octopus neurobiology.

PubMed

Hochner, Binyamin

2012-10-23

Octopuses have a unique flexible body and unusual morphology, but nevertheless they are undoubtedly a great evolutionary success. They compete successfully with vertebrates in their ecological niche using a rich behavioral repertoire more typical of an intelligent predator which includes extremely effective defensive behavior--fast escape swimming and an astonishing ability to adapt their shape and color to their environment. The most obvious characteristic feature of an octopus is its eight long and flexible arms, but these pose a great challenge for achieving the level of motor and sensory information processing necessary for their behaviors. First, coordinating motion is a formidable task because of the infinite degrees of freedom that have to be controlled; and second, it is hard to use body coordinates in this flexible animal to represent sensory information in a central control system. Here I will review experimental results suggesting that these difficulties, arising from the animal's morphology, have imposed the evolution of unique brain/body/behavior relationships best explained as intelligent behavior which emerges from the octopus's embodied organization. The term 'intelligent embodiment' comes from robotics and refers to an approach to designing autonomous robots in which the behavior emerges from the dynamic physical and sensory interactions of the agent's materials, morphology and environment. Consideration of the unusual neurobiology of the octopus in the light of its unique morphology suggests that similar embodied principles are instrumental for understanding the emergence of intelligent behavior in all biological systems. Copyright © 2012 Elsevier Ltd. All rights reserved.

Distribution and sequence homogeneity of an abundant satellite DNA in the beetle, Tenebrio molitor.

PubMed Central

Davis, C A; Wyatt, G R

1989-01-01

The mealworm beetle, Tenebrio molitor, contains an unusually abundant and homogeneous satellite DNA which constitutes up to 60% of its genome. The satellite DNA is shown to be present in all of the chromosomes by in situ hybridization. 18 dimers of the repeat unit were cloned and sequenced. The consensus sequence is 142 nt long and lacks any internal repeat structure. Monomers of the sequence are very similar, showing on average a 2% divergence from the calculated consensus. Variant nucleotides are scattered randomly throughout the sequence although some variants are more common than others. Neighboring repeat units are no more alike than randomly chosen ones. The results suggest that some mechanism, perhaps gene conversion, is acting to maintain the homogeneity of the satellite DNA despite its abundance and distribution on all of the chromosomes. Images PMID:2762148

Role of protein surface charge in monellin sweetness.

PubMed

Xue, Wei-Feng; Szczepankiewicz, Olga; Thulin, Eva; Linse, Sara; Carey, Jannette

2009-03-01

A small number of proteins have the unusual property of tasting intensely sweet. Despite many studies aimed at identifying their sweet taste determinants, the molecular basis of protein sweetness is not fully understood. Recent mutational studies of monellin have implicated positively charged residues in sweetness. In the present work, the effect of overall net charge was investigated using the complementary approach of negative charge alterations. Multiple substitutions of Asp/Asn and Glu/Gln residues radically altered the surface charge of single-chain monellin by removing six negative charges or adding four negative charges. Biophysical characterization using circular dichroism, fluorescence, and two-dimensional NMR demonstrates that the native fold of monellin is preserved in the variant proteins under physiological solution conditions although their stability toward chemical denaturation is altered. A human taste test was employed to determine the sweetness detection threshold of the variants. Removal of negative charges preserves monellin sweetness, whereas added negative charge has a large negative impact on sweetness. Meta-analysis of published charge variants of monellin and other sweet proteins reveals a general trend toward increasing sweetness with increasing positive net charge. Structural mapping of monellin variants identifies a hydrophobic surface predicted to face the receptor where introduced positive or negative charge reduces sweetness, and a polar surface where charges modulate long-range electrostatic complementarity.

Functional morphology of digestion in the stomachless, piscivorous needlefishes Tylosurus gavialoides and Strongylura leiura ferox (Teleostei: Beloniformes).

PubMed

Manjakasy, Jennifer M; Day, Ryan D; Kemp, Anne; Tibbetts, Ian R

2009-10-01

Belonidae are unusual in that they are carnivorous but lack a stomach and have a straight, short gut. To develop a functional morphological model for this unusual system the gut contents and alimentary tract morphology of Tylosurus gavialoides and Strongylura leiura ferox were investigated. The posterior orientation of the majority of the pharyngeal teeth supports the swallowing of whole large prey, but not their mastication. Mucogenic cells are abundant in the mucosa lining, particularly the esophagus, and their secretions are likely to protect the gut lining from damage while lubricating passage of the prey. Esophagus, anterior intestine, posterior intestine, and rectum all have highly reticulate mucosae. The anterior three gut sections are distensible to accommodate the passage of prey. However, following ingestion large prey are passed to the highly distensible posterior intestine where they rest head first against the ileorectal valve. Alimentary pH ranges from neutral to weakly acidic. Fish prey is digested head first with the head being largely digested while the remainder of the body is still intact. The nondistensibility of the rectum and the small aperture provided by the ileorectal valve suggest the products of intestinal digestion are either small particulates or fluids that pass into rectum where they are absorbed. 2009 Wiley-Liss, Inc.

Anomalous sylvian fissure morphology in Williams syndrome.

PubMed

Eckert, Mark A; Galaburda, Albert M; Karchemskiy, Asya; Liang, Alyssa; Thompson, Paul; Dutton, Rebecca A; Lee, Agatha D; Bellugi, Ursula; Korenberg, Julie R; Mills, Debra; Rose, Fredric E; Reiss, Allan L

2006-10-15

The unusual sensitivity and attraction to auditory stimuli in people with Williams syndrome (WS) has been hypothesized to be the consequence of atypical development of brain regions surrounding the Sylvian fissure. Planum temporale surface area, which is determined in part by Sylvian fissure patterning, was examined in 42 WS and 40 control participants to determine if anomalous Sylvian fissure morphology is present in WS. WS participants had significantly reduced leftward asymmetry of the planum temporale compared to control participants, due to a significant expansion in the size of the right planum temporale. The increased right planum temporale size was largely due to WS participants (24%) who had a right hemisphere Sylvian fissure that coursed horizontally and failed to ascend into the parietal lobe. This sulcal pattern is unusual in the right hemisphere and is more commonly found in the left hemisphere of typically developing individuals. There were no control participants with this type of right hemisphere Sylvian fissure pattern. The right hemisphere Sylvian fissure sulcal patterns were also related to a measure of cortical complexity and the amount of right hemisphere occipital lobe volume, suggesting that intrinsic genetic influences leading to anomalous visual system development in WS have widespread influences on cortical morphology that are similar in manner to extrinsic embryonic visual system lesions.

Unusually large complex odontoma in maxillary sinus associated with unerupted tooth. Report of case and review of literature.

PubMed

Singer, Steven R; Mupparapu, Muralidhar; Milles, Maano; Rinaggio, Joseph; Pisano, Dominic; Quaranta, Patrick

2007-01-01

An unusual case of a large complex odontoma with an associated impacted tooth is presented. Odontomas are hamartomatous growths of enamel, dentin, cementum and pulp tissue. Although they are usually tooth-sized or smaller, occasionally, the complex variant can exhibit considerable growth, as was seen in the case presented here. It occupied most of the maxillary sinus and displaced the floor of the orbit and the medial and posterior walls of the left maxillary sinus. Panoramic radiographs, as well as axial and coronal CT studies, showed the extent of the lesion in various dimensions. A differential diagnosis of various calcifying tumors was formulated on the basis of these findings. The lesion was surgically excised, and histologic analysis confirmed the radiographic impression. Although odontomas of this magnitude are rare, this case demonstrates the value of imaging, radiographic histopathologic diagnosis and surgical treatment planning prior to any definitive treatment.

T-cell lymphoblastic leukemia/lymphoma syndrome with eosinophilia and acute myeloid leukemia.

PubMed

Lamb, Lawrence S; Neuberg, Ronnie; Welsh, Jeff; Best, Robert; Stetler-Stevenson, Maryalice; Sorrell, April

2005-05-01

This case represents an example of an unusual T-cell lymphoblastic leukemia/lymphoma syndrome associated with eosinophilia and myeloid malignancy in a young boy. This case is one of only five reported "leukemic" variants of the disease and demonstrates the importance of considering this poor prognostic diagnosis in pediatric acute lymphoblastic leukemia. This case also illustrates the importance of an interactive multidisciplinary approach to the laboratory evaluation of a leukemia patient. Copyright 2005 Wiley-Liss, Inc.

Takotsubo cardiomyopathy associated with cardiac arrest following cardiac surgery: new variants of an unusual syndrome.

PubMed

Vernick, William J; Hargrove, W Clark; Augoustides, John G; Horak, Jiri

2010-11-01

Takotsubo cardiomyopathy is increasingly being recognized in the perioperative period. To date, there have been only three previous cases involving cardiac surgery reported and this represents the fourth case. The precise mechanism remains elusive, and there is no definitive management strategy. It appears that the syndromes course in cardiac surgical patients is self-limited. This syndrome must now be considered in the differential diagnosis of postcardiotomy cardiac failure. © 2010 Wiley Periodicals, Inc.

Absent right coronary artery: A case of single coronary artery or congenital ostial atresia?

PubMed

Gupta, Mohit D; Girish, M P; Vignesh, Vickram; Narang, Poonam; Trehan, Vijay; Tyagi, Sanjay

2015-12-01

Atresia of the right coronary artery ostium is a rare anatomic variant of the coronary circulation. It is often difficult to differentiate from single coronary artery. Its presence unassociated with any other anomaly has never been described in an adult individual. We report this unusual anomaly and discuss its anatomical and pathophysiological significance and possible ways to differentiate from single coronary artery. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

Simple (unicameral) bone cyst of the calcaneus: a pathologic variant revisited.

PubMed

Thomas, L Brannon; Steffensen, Thora; Walling, Arthur K; Gilbert-Barness, Enid

2008-01-01

A 17-year-old girl was admitted to the hospital for surgery of an enlarging, painful mass of the left calcaneus. Preoperative imaging studies suggested either a simple (unicameral) or aneurysmal bone cyst. Intraoperative biopsy of the lesion revealed a simple bone cyst with extensive cholesterol clefts. Such cysts are not uncommon in the calcaneus. However, the pathology of this case is unusual and often overlooked. The typical presentation, treatment, and pathology of these lesions are reviewed.

An unusual case of KBG syndrome with unique oral findings

PubMed Central

Hafiz, Abdul; Mufeed, Abdulla; Ismael, Mohamad; Alam, Mheboob

2015-01-01

KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and skeletal anomalies. The authors describe what appears to be the first case of KBG syndrome reported from the Indian subcontinent. Meticulous evaluation of the dental findings helps to identify such cases which may otherwise remain undiagnosed. Further research is warranted to determine the classic and variant presentations of this condition, with follow-up data providing valuable insights into its natural history and long-term prognosis. PMID:26187867

Traumatic acute subdural hematoma localized on the superior surface of the tentorium cerebelli--two case reports.

PubMed

Matsumoto, K; Houri, T; Yamaki, T; Ueda, S

1996-06-01

An 8-year-old boy, who fell downstairs and struck his head, and a 62-year-old female, who hit her head in the automobile accident, presented with unusual traumatic acute subdural hematoma localized on the superior surface of the tentorium cerebelli. Magnetic resonance imaging was useful for determination of the anatomical location of the hematoma, and confirmation of absence of significant parenchymal contusion. Injury of the variant bridging vein possibly caused subdural hematoma over the tentorium.

Granulomatous slack skin syndrome: Report of a unique case.

PubMed

Maheswari, S Uma; Sampath, V; Ramesh, A

2018-01-01

Granulomatous slack skin syndrome is a rare variant of cutaneous T-cell lymphoma (mycosis fungoides). It is characterized clinically by redundant skin folds, which show a predilection towards flexural areas such as the axilla and the groin. Histologically, it shows a granulomatous T-cell infiltrate and loss of elastic tissue. It has an indolent but progressive course; and is usually refractory to treatment. We report a unique case of slack skin syndrome, sparing the classical sites with rapid and unusual involvement of non-intertriginous areas.

Molecular identification of unusual Mycetoma agents isolated from patients in Venezuela.

PubMed

Rojas, Olga C; León-Cachón, Rafael B R; Moreno-Treviño, Maria; González, Gloria M

2017-02-01

Mycetoma is a chronic granulomatous, subcutaneous disease endemic in tropical and subtropical countries. It is currently a health problem in rural areas of Africa, Asia and South America. Nine cases of mycetoma were analysed in a retrospective study. All isolates were identified by morphological features. The level of species identification was reached by molecular tools. Definitive identification of fungi was performed using sequence analysis of the ITS of the ribosomal DNA region and the ribosomal large-subunit D1/D2. Identification of actinomycetes was accomplished by the 16S rRNA gene sequence. Six unusual clinical isolates were identified: Aspergillus ustus, Cyphellophora oxyspora, Exophiala oligosperma, Madurella pseudomycetomatis, Nocardia farcinica and Nocardia wallacei. The prevalence of mycetoma in Venezuela remains unknown. This study represents the first report in the literature of mycetoma caused by unusual pathogens identified by molecular techniques. © 2016 Blackwell Verlag GmbH.

Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report.

PubMed

Yonemoto, Yumiko; Morishita, Seita; Fukumoto, Masanori; Mimura, Masashi; Sato, Takaki; Kida, Teruyo; Kojima, Shota; Oku, Hidehiro; Sugasawa, Jun; Ikeda, Tsunehiko

2018-06-01

The aim of this study was to report a case of Down syndrome (DS) complicated with bilateral retinal detachment (RD) due to unusual retinal degeneration. A 9-year-old girl complained of bilateral visual disturbance during a follow-up examination for myopia and strabismus. Slit-lamp examination revealed moderate posterior subcapsular cataract in both eyes. B-mode echography showed bilateral bullous RD; however, it was difficult to detect the causal retinal breaks due to poor mydriasis. For treatment, the patient underwent bilateral lensectomy, vitrectomy, and silicone oil tamponade. Intraoperative findings revealed symmetrical retinal breaks and unusual caterpillar-like retinal degeneration on the upper temporal side of both eyes. Three months later, the patient underwent bilateral silicone oil removal and intraocular lens implantation. In this case, the retinal degeneration was morphologically different from retinal lattice degeneration, thus suggesting that it might be involved in the onset of DS-related bilateral RD.

Myopericytoma proliferating in an unusual anastomosing multinodular fashion.

PubMed

Inoue, Takuya; Misago, Noriyuki; Asami, Akihiko; Tokunaga, Osamu; Narisawa, Yutaka

2016-05-01

We herein describe a case of myopericytoma that proliferated in an unusual fashion. Myopericytoma is described as a group of rare, benign, dermal or subcutaneous tumors that are characterized histologically by a striking, concentric, perivascular proliferation of spindle cells and showing apparent differentiation towards perivascular myoid cells. Myopericytoma forms a morphological continuum with myofibroma/myofibromatosis, glomus tumor and angioleiomyoma. The patient was a 64-year-old woman who demonstrated a recurrent ulcer on an atrophic plaque on her left shin. A histopathological examination of the plaque demonstrated that tumor cells proliferated in an anastomosing multinodular fashion along the vessels in the dermis and subcutaneous tissue. In those nodules, there were numerous, small, concentric proliferations of myoid-appearing spindle cells around small vascular lumina. The present case is an unusual example of myopericytoma, manifesting in a characteristic anastomosing, multinodular, infiltrating fashion. © 2015 Japanese Dermatological Association.

An unusual and spectacular case of spindle cell lipoma of the posterior neck invading the spinal cervical canal and posterior cranial fossa.

PubMed

Petit, Damien; Menei, Philippe; Fournier, Henri-Dominique

2011-11-01

The authors describe the first case of spindle cell lipoma of the posterior neck invading the upper cervical spinal canal and the posterior cranial fossa. Spindle cell lipoma is an extremely rare variant of benign lipoma. It usually occurs as a solitary subcutaneous well-circumscribed lesion in the posterior neck or shoulders of adult men. Local aggressiveness is unusual. This 61-year-old man presented with an increased left cerebellar syndrome and headaches. He also had a posterior neck tumefaction, which had been known about for a long time. Computed tomography and MR imaging studies revealed a voluminous mass extending to the upper cervical canal and posterior cranial fossa and eroding the neighboring bones. The lesion was well delimited, and contrast enhancement was intense and heterogeneous. The tumor, which had initially developed under the muscles of the posterior neck, was totally resected. Histological assessment revealed numerous fat cells with spindle cells secreting collagen. The large size of the tumor and the submuscular location, bone erosion, and compression of the CNS were unusual in this rare subtype of benign adipose tumor. Its presentation could simulate a sarcoma.

Supernumerary heads to biceps brachii muscle and Asian population history.

PubMed

Techataweewan, N; Toomsan, Y; Maneenin, C; Tungsrithong, N; Tayles, N

2016-12-01

Supernumerary heads of biceps brachii are one of the most common anatomic variants in the muscular system and appear to develop under genetic control and vary in prevalence among populations. Variation in prevalence and morphology therefore has the potential to contribute to understanding of human population history. Until now, there has been no publication of the prevalence of the variant in Southeast Asian populations. The aim of this research is to document the prevalence and morphology of the variant in a sample of Thai cadavers and to consider the significance of the findings. The method used was dissection of arms of 162 donated cadavers at Khon Kaen University, Thailand. The sample showed high prevalence of third heads of biceps brachii in 35% of cadavers, compared with the prevalence of up to 25% reported in large samples worldwide. The sample also showed equal prevalence in males and females and one-third present bilaterally. This pattern is similar to that found in East Asia, and very different from the low prevalence found in South Asia. The morphology of the supernumerary heads does not appear to be different from elsewhere in the world based on the minimal comparable data available in the literature. The Southeast-East Asian pattern of prevalence is consistent with current theories of population history in the region and suggests anatomical variation of the postcranial soft tissues may ultimately contribute to understanding of past human migrations. Copyright © 2016 Elsevier GmbH. All rights reserved.

Imaging diagnosis--Complex intrahepatic portosystemic shunt in a dog.

PubMed

D'Anjou, Marc-André; Huneault, Louis

2008-01-01

An unusual form of congenital intrahepatic portosystemic shunt was identified in a 3 1/2-month-old female Labrador Retriever with neurologic signs. Ultrasonography and contrast-enhanced computed tomography were used to characterize the shunt morphology. An unusual, looping right-divisional shunt connected back to the portal vein that formed an ampula in the right-central portion of the liver. An irregularly shaped window-like opening connected the combined right-divisional loop and aneurysmal portal vein, and the caudal vena cava, while this vascular pool gradually fused more cranially. Imaging features of this complex vascular anomaly, which has not been previously reported, are presented.

Descriptions and biological notes on three unusual mantellid tadpoles (Amphibia: Anura: Mantellidae) from southeastern Madagascar

USGS Publications Warehouse

Altig, R.; McDiarmid, R.W.

2006-01-01

The morphologies of three unusual tadpoles from slow-flowing, sandy-bottomed, rain forest streams in southeastern Madagascar are described. The large oral apparatus of the tadpole of Boophis picturatus Glaw, Vences, Andreone, and Vallan, 2001 lacks all keratinized structures and has an elaborately-folded lower labium with five, radially oriented, flattopped ridges. The tadpole of Mantidactylus guttulatus (Boulenger, 1881) lacks all keratinized mouthparts and has three immense papillae where the upper jaw normally occurs. The tadpole of Mantidactylus lugubris (Dumeril, 1853) has an ornate oral apparatus involving greatly hypertrophied derivatives of jaw serrations and unique structures on the lower labium that resemble labial teeth.

Morphological and biochemical features of Borrelia burgdorferi pleomorphic forms

PubMed Central

Herranen, Anni; Schwarzbach, Armin; Gilbert, Leona

2015-01-01

The spirochaete bacterium Borrelia burgdorferi sensu lato is the causative agent of Lyme disease, the most common tick-borne infection in the northern hemisphere. There is a long-standing debate regarding the role of pleomorphic forms in Lyme disease pathogenesis, while very little is known about the characteristics of these morphological variants. Here, we present a comprehensive analysis of B. burgdorferi pleomorphic formation in different culturing conditions at physiological temperature. Interestingly, human serum induced the bacterium to change its morphology to round bodies (RBs). In addition, biofilm-like colonies in suspension were found to be part of B. burgdorferi’s normal in vitro growth. Further studies provided evidence that spherical RBs had an intact and flexible cell envelope, demonstrating that they are not cell wall deficient, or degenerative as previously implied. However, the RBs displayed lower metabolic activity compared with spirochaetes. Furthermore, our results indicated that the different pleomorphic variants were distinguishable by having unique biochemical signatures. Consequently, pleomorphic B. burgdorferi should be taken into consideration as being clinically relevant and influence the development of novel diagnostics and treatment protocols. PMID:25564498

Abnormal growth kinetics of h-BN epitaxial monolayer on Ru(0001) enhanced by subsurface Ar species

NASA Astrophysics Data System (ADS)

Wei, Wei; Meng, Jie; Meng, Caixia; Ning, Yanxiao; Li, Qunxiang; Fu, Qiang; Bao, Xinhe

2018-04-01

Growth kinetics of epitaxial films often follows the diffusion-limited aggregation mechanism, which shows a "fractal-to-compact" morphological transition with increasing growth temperature or decreasing deposition flux. Here, we observe an abnormal "compact-to-fractal" morphological transition with increasing growth temperature for hexagonal boron nitride growth on the Ru(0001) surface. The unusual growth process can be explained by a reaction-limited aggregation (RLA) mechanism. Moreover, introduction of the subsurface Ar atoms has enhanced this RLA growth behavior by decreasing both reaction and diffusion barriers. Our work may shed light on the epitaxial growth of two-dimensional atomic crystals and help to control their morphology.

Unusual Morphological Alteration in Sigmoid Notch: An Insight Through CBCT

PubMed Central

Gupta, Anjali; Phulambrikar, Tushar; Kode, Manasi; Singh, Siddharth Kumar

2015-01-01

The Temporomandibular Joint (TMJ) is a ginglymo-diarthrodial joint known to be the most complex joint in human body. Growth disturbances, owing to genetic influences or trauma during the intrauterine life or during early developmental age may lead to morphological and functional variations in the mandible resulting in developmental anomaly. We report a rare case of altered sigmoid notch morphology on the right side and condylar hypoplasia on the left side, not related to any clear pathological disorder. Cone Beam Computed Tomography (CBCT) was helpful in evaluating this case. This case of unknown aetiology was thoroughly examined; based on clinical and radiographic findings, we suggest that this case is of congenital origin. PMID:26816996

Solid Variant of an Aneurysmal Bone Cyst of the Thoracic Spine.

PubMed

Mehta, Varshil; Padalkar, Pravin; Kale, Maya; Kathare, Ambadas

2017-05-01

The solid variant of an aneurysmal bone cyst (ABC) has been observed very rarely, especially those involving the spine. In this case report, we present a very unusual tumour of the thoracic spine which was managed by 360˚ decompression via posterior-only approach and stabilization. A 16-year-old boy presented to us with a sudden onset of weakness in both lower limbs leading to paraplegia. He also had a history of back and chest pain over the past one year. A collapse of the T5 vertebrae on plain radiograph was observed. The patient was immediately shifted to the operation theatre with an initial plan of a total en bloc spondylectomy of the T5. However, intraoperatively, histology favored a solid-ABC variant rather than a spindle cell tumour or giant cell tumour. Thus, the initial plan was revised to a 360˚ decompression without resecting the body en bloc via a posterolateral approach. After surgery, complete resolution of his sensory and motor dysfunction was achieved. His chest and back pain also resolved. The diseased vertebral body gradually healed and new bone formation was seen at 18 months postoperatively. This case report concludes that a solid variant of an ABC should be considered as a differential diagnosis for tumours involving the spine. An intraoperative frozen section procedure should be undertaken, especially during emergency situations. Early diagnosis and appropriate surgical management play an important role in the successful management of a solid variant of ABC.

Membranous glomerulopathy with spherules: an uncommon variant with obscure pathogenesis.

PubMed

Kowalewska, Jolanta; Smith, Kelly D; Hudkins, Kelly L; Chang, Anthony; Fogo, Agnes B; Houghton, Donald; Leslie, Deena; Aitchison, John; Nicosia, Roberto F; Alpers, Charles E

2006-06-01

Occasional case reports of membranous glomerulopathy described unique subepithelial accumulations of an unusual type of immune deposit composed of spherular structures. The identity of such structures as nuclear pores has been suggested, but not established. We identified a cohort of patients (n = 14, including 1 patient with disease recurrence in an allograft) who presented with nephrotic syndrome and had renal biopsy specimens with light and immunofluorescence microscopic findings characteristic of membranous glomerulopathy. These patients were distinguished by ultrastructural studies that showed glomerular capillary wall accumulations of subepithelial immune deposits composed of uniform spherular structures, while lacking the typical granular electron-dense deposits seen in membranous glomerulopathy. The molecular identity of these spherular structures as nuclear pores was tested by using immunofluorescence microscopy and immunohistochemistry with mouse monoclonal antinuclear pore antibodies (Covance, Princeton, NJ) and anti-Nuclear Pore-O-Linked Glycoprotein (Affinity BioReagents Inc, Golden, CO) antibodies. Measurement of spherular structures by using high-magnification electron microscopy showed an average diameter of 84.5 nm, which correlated well with accepted diameters of nuclear pores (80 to 120 nm). Immunofluorescence microscopy and immunoperoxidase staining with both antibodies showed characteristic beaded staining of nuclear membranes of multiple cell types within normal control kidney, but no staining of immune-type deposits within glomerular basement membranes. These cases form a rare, but distinctive, morphological subclass of membranous glomerulopathy. The antigenic specificity of immune deposits in these cases remains elusive.

Molecular Characteristics of Mantle Cell Lymphoma Presenting with Clonal Plasma Cell Component

PubMed Central

Visco, Carlo; Hoeller, Sylvia; Malik, Jeffrey T.; Xu-Monette, Zijun Y.; Wiggins, Michele L.; Liu, Jessica; Sanger, Warren G.; Liu, Zhongfeng; Chang, Julie; Ranheim, Erik A.; Gradowski, Joel F.; Serrrano, Sergio; Wang, Huan-You; Liu, Qingquan; Dave, Sandeep; Olsen, Brian; Gascoyne, Randy D.; Campo, Elias; Swerdlow, Steven H.; Chan, Wing C.; Tzankov, Alexander; Young, Ken H.

2011-01-01

The normal counterparts of mantle cell lymphoma (MCL) are naïve quiescent B-cells that have not been processed through the germinal center (GC). For this reason, while lymphomas arising from GC or post-GC B-cells often exhibit plasmacytic differentiation, MCL rarely presents with plasmacytic features. Seven cases of MCL with a monotypic plasma cell (PC) population were collected from six centers and studied by immunohistochemistry, FICTION (Fluorescence immunophenotyping and Interphase Cytogenetics as a Tool for the Investigation of Neoplasms), capillary gel electrophoresis, and restriction fragment length polymorphism of immunoglobulin heavy chain analysis (RFLP/IgH) of microdissections of each of the MCL and PC populations to assess their clonal relationship. Clinical presentation was rather unusual compared to typical MCL, with two cases arising from extranodal soft-tissues of the head. All MCL cases were morphologically and immunohistochemically typical, bearing the t(11;14)(q13;q32). In all cases PC populations were clonal. In 5 of the 7 cases, the MCL and PC clones showed identical restriction fragments, indicating a common clonal origin of the neoplastic populations. The two cases with clonal diversity denoted the coexistence of two different tumors in a composite lymphoma/plasma cell neoplasm. Our findings suggest that MCL can present with a PC component that is often clonally related to the lymphoma, representing a rare but unique biological variant of this tumor. PMID:21263238

Primary "cutaneous" T-cell anaplastic large cell lymphoma, CD30+, neutrophil-rich variant with subcutaneous panniculitic lesions, in a post-renal transplant patient: report of unusual case and literature review.

PubMed

Salama, S

2005-06-01

Posttransplantation lymphoproliferative disorders (PTLD) presenting clinically in the skin are rare and usually of B-cell phenotype. Only 7 cases of cutaneous T-cell PTLD have been previously reported, mostly mycosis fungoides type, with no known cases of "cutaneous" presentation by CD30 (Ki-1) anaplastic large cell lymphoma (ALCL). The case reported is a 59-year-old male who developed multiple skin nodules on the right leg, 6 years following renal transplantation. Initial biopsy showed ALCL involving the dermis with a background rich in neutrophils. The neoplastic cells were of T-cell phenotype, strongly CD30 with typical staining, and BCL-2 positive, but P53 negative. No EBV was detected by IHC, ISH, or DNA analysis. One year later, he developed painful subcutaneous nodules with surrounding erythema, resembling deep pustules or panniculitis, which on biopsy showed preferential involvement of the subcutaneous fat and prominent component of neutrophils. Twenty-two months following diagnosis, he died of cardiac failure with terminal myocardial infarct. There was however no clinical evidence of systemic spread of the lymphoma.This report adds to the clinical and morphologic spectrum of these rare "cutaneous" lymphomas of T-cell lineage arising in the posttransplantation setting, and suggests that EBV does not play a role in their pathogenesis.

Ripple Ring Basins on Ganymede and Callisto

NASA Technical Reports Server (NTRS)

Croft, S. K.

1985-01-01

The unusual morphology of the Valhalla multiple or ripple-ring basin in Callisto was totally unexpected in light of the morphologies of large impact structures on the terrestrial planets. Two other ripple-ring basins (RRB's), Asgard and a smaller structure near the crater Adlinda are also described. Several additional RRB's were found on Callisto, an example of which is shown. A previously unrecognized RRB on Ganymede was also found. An image and geologic sketch map of this RRB are shown. Morphometric and positional data for all known RRB's are given.

Squamous cell carcinoma variants of the upper aerodigestive tract: a comprehensive review with a focus on genetic alterations.

PubMed

Shah, Akeesha A; Jeffus, Susanne K; Stelow, Edward B

2014-06-01

Squamous cell carcinoma of the upper aerodigestive tract is a heterogenous entity. Although conventional squamous cell carcinomas are easily recognized, the morphologic variants of squamous cell carcinoma can present a diagnostic challenge. Familiarity with these variants is necessary because many are associated with unique risk factors and are characterized by specific molecular alterations (eg, nuclear protein in testis midline carcinomas). Perhaps the most important distinction is in identifying viral-related from nonviral-related carcinomas. The accurate diagnosis of these variants is necessary for prognostic and therapeutic reasons. To provide a clinicopathologic overview and summary of the molecular alterations of the common squamous cell carcinoma variants, including verrucous, spindle cell, acantholytic, adenosquamous, basaloid, and papillary squamous cell carcinoma, as well as nuclear protein in testis midline carcinoma, and to discuss the distinguishing features of human papillomavirus- and Epstein-Barr virus-related squamous cell carcinomas. Published peer-reviewed literature. Familiarity with squamous cell carcinoma variants is essential for proper diagnosis and to guide appropriate clinical management. Further insight into the molecular alterations underlying those variants may lead to alterations in existing treatment approaches and to evolution of novel treatment modalities.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

PubMed Central

Kenna, Kevin P; van Doormaal, Perry T C; Dekker, Annelot M; Ticozzi, Nicola; Kenna, Brendan J; Diekstra, Frank P; van Rheenen, Wouter; van Eijk, Kristel R; Jones, Ashley R; Keagle, Pamela; Shatunov, Aleksey; Sproviero, William; Smith, Bradley N; van Es, Michael A; Topp, Simon D; Kenna, Aoife; Miller, Jack W; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russell L; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, Jacqueline; Baas, Frank; van der Kooi, Anneke J; de Visser, Marianne; Asbroek, Anneloor L M A ten; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Muñoz-Blanco, José Luis; Strom, Tim M; Meitinger, Thomas; Morrison, Karen E; Lauria, Giuseppe; Williams, Kelly L; Leigh, P Nigel; Nicholson, Garth A; Blair, Ian P; Leblond, Claire S; Dion, Patrick A; Rouleau, Guy A; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Esteban-Pérez, Jesús; García-Redondo, Alberto; Van Damme, Phillip; Robberecht, Wim; Chio, Adriano; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michael; Ratti, Antonia; Glass, Jonathan D; Mora, Jesús S; Basak, Nazli A; Hardiman, Orla; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Brown, Robert H; Al-Chalabi, Ammar; Silani, Vincenzo; Shaw, Christopher E; van den Berg, Leonard H; Veldink, Jan H; Landers, John E

2017-01-01

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology. PMID:27455347

Characterization of experimentally induced, nonaflatoxigenic variant strains of Aspergillus parasiticus.

PubMed Central

Kale, S P; Cary, J W; Bhatnagar, D; Bennett, J W

1996-01-01

Six previously isolated, nonaflatoxigenic variants of Aspergillus parasiticus, designated sec mutants, were characterized morphologically by electron microscopy, biochemically by biotransformation studies with an aflatoxin precursor, and genetically by Northern (RNA) hybridization analysis of aflatoxin biosynthetic gene transcripts. Scanning electron micrographs clearly demonstrated that compared with the parental sec+ forms, the variant sec forms had an abundance of vegetative mycelia, orders of magnitude reduced number of conidiophores and conidia, and abnormal metulae. Conidiospores were detected in sec cultures only at higher magnifications (x 500), in contrast to the sec+ (wild-type) strain, in which abundant conidiospores (masking the vegetative mycelia) were observed at even lower magnifications (x 300). All sec+ forms, but none of the sec forms, showed bioconversion of sterigmatocystin to aflatoxins. Northern blots probed with pathway genes demonstrated lack of expression of both the aflatoxin biosynthetic pathway structural (nor-1 and omtA) and regulatory (aflR) genes in the sec forms; PCR and Southern hybridization analysis confirmed the presence of the genes in the sec genomes. Thus, the loss of aflatoxigenic capabilities in the sec form is correlated with alterations in the conidial morphology of the fungus, suggesting that the regulation of aflatoxin synthesis and conidiogenesis may be interlinked. PMID:8795232

Polycystic ovary syndrome is not associated with genetic variants that mark risk of type 2 diabetes.

PubMed

Saxena, R; Welt, C K

2013-06-01

Polycystic ovary syndrome (PCOS) is a disorder of irregular menses, hyperandrogenism and/or polycystic ovary morphology. A large proportion of women with PCOS also exhibit insulin resistance, β-cell dysfunction, impaired glucose tolerance and/or type 2 diabetes (T2D). We therefore hypothesized that genetic variants that predispose to risk of T2D also result in risk of PCOS. Variants robustly associated with T2D in candidate gene or genome-wide association studies (GWAS; n = 56 SNPs from 33 loci) were genotyped in women of European ancestry with PCOS (n = 525) and controls (n = 472), aged 18-45 years. Metabolic, reproductive and anthropomorphic data were examined as a function of the T2D variants. All genetic association analyses were adjusted for age, BMI and ancestry and were reported after correction for multiple testing. There was a nominal association between variants in KCNJ11 and risk of PCOS. However, a risk score of 33 independent T2D-associated variants from GWAS was not significantly associated with PCOS. T2D variants were associated with PCOS phenotype parameters including those in THADA and WFS1 with testosterone levels, ENPP/PC1 with triglyceride levels, FTO with glucose levels and KCNJ11 with FSH levels. Diabetes risk variants are not important risk variants for PCOS.

Variant facial artery in the submandibular region.

PubMed

Vadgaonkar, Rajanigandha; Rai, Rajalakshmi; Prabhu, Latha V; Bv, Murlimanju; Samapriya, Neha

2012-07-01

Facial artery has been considered to be the most important vascular pedicle in facial rejuvenation procedures and submandibular gland (SMG) resection. It usually arises from the external carotid artery and passes from the carotid to digastric triangle, deep to the posterior belly of digastric muscle, and lodges in a groove at the posterior end of the SMG. It then passes between SMG and the mandible to reach the face after winding around the base of the mandible. During a routine dissection, in a 62-year-old female cadaver, in Kasturba Medical College Mangalore, an unusual pattern in the cervical course of facial artery was revealed. The right facial artery was found to pierce the whole substance of the SMG before winding around the lower border of the mandible to enter the facial region. Awareness of existence of such a variant and its comparison to the normal anatomy will be useful to oral and maxillofacial surgeons.

Fenestration of axillary vein by a variant axillary artery.

PubMed

Hadimani, S; Desai, S D; Bagoji, I B; Patil, B S

2013-01-01

Variations of venous pattern in the arm are common. In this case report, we present a variation of axillary artery and vein. During routine educational dissections of axillary region, it was observed that a fenestrated axillary vein was perforated by a variant axillary artery in right arm of an old male cadaver. The axillary artery which was fenestrated through axillary vein had only two branches arising from its second part and no branches from its remaining distal parts. The branches are thoraco-acromial (usual) and another large collateral (unusual) branch. This collateral branch is the origin of several important arteries as the subscapular, circumflex scapular, posterior circumflex humeral and lateral thoracic arteries. We propose to name this artery as collateral axillary arterial trunk. The course of this collateral axillary arterial trunk and its branches and also clinical significance of this variation are discussed in the paper.

Diagnosis of blunt traumatic aortic injury 2007: still a nemesis.

PubMed

Mirvis, Stuart E; Shanmuganathan, K

2007-10-01

In recent years, the use of multidetector computed tomography (MDCT) for the diagnosis of acute thoracic injury in blunt trauma has expanded. MDCT has shown high accuracy for the diagnosis or exclusion of injury to the aorta and its primary branches, decreasing the need for thoracic angiography and allowing earlier treatment of this often rapidly fatal lesion. With increasing use of MDCT, more subtle injuries and variants of vascular anatomy are being recognized that create pitfalls in the diagnosis. Of perhaps more concern is the recognition that aortic injury can occur with little or no associated mediastinal hematoma, the principle chest radiographic finding indicating a need for further imaging. The importance of recognizing unusual sites of aortic injury, congenital variants of mediastinal anatomy, the precise extent of injury, and the anatomic pathology present as key factors in deciding among treatment options is emphasized.

Lung carcinoma mimicking malignant lymphoma: report of three cases.

PubMed

Matsui, K; Kitagawa, M; Wakaki, K; Masuda, S

1993-10-01

Three cases of lung carcinomas with unusual histologic appearances that have received little or no comment in the literature are presented. They were initially confused with malignant lymphoma because of a diffuse proliferation of relatively monotonous cells simulating large-cell immunoblastic lymphoma. In each case, the possibility of malignant lymphoma was excluded with confidence after the immunohistochemical study (leucocyte common antigen negative and cytokeratins positive), although with conventional microscopy several foci of cohesive groups of tumor cells were observed. The tumors were ranked at the clinical stage II or III when they were initially discovered, but all patients died of disease within 1 year. The present three tumors show an aggressive behavior and could be classified into a peculiar variant of 'large cell' carcinoma. It is necessary for surgical pathologists to have an idea of these variants of lung carcinoma in order to avoid erroneous diagnosis.

Molecular characterization of both alleles in an unusual Tay-Sachs disease BI variant

DOE Office of Scientific and Technical Information (OSTI.GOV)

Coulter-Mackie, M.B.

1994-06-01

In a recent report, the authors described an exon 6 mutation in a Tay-Sachs B1 variant patient, first reported by Gordon et al. (1988), who displayed a typical B1 variant biochemical phenotype - i.e., (a) significant levels of hexosaminidase A (Hex A) activity in an assay with a neutral synthetic substrate, 4-methylumbelliferyl-[beta]-N-acetylglucosamide, and (b) <2% of control Hex A in a test on the sulfated substrate, 4-methylumbelliferyl-[beta]-N-acetylglucosamide-6-sulfate. The patient was found to carry a double mutation (G[sub 574][yields]C [val[sub 192][yields]leu] and G[sub 598][yields]A [val[sub 200][yields]met]) inherited from her mother. Only the 574 mutation produced a deleterious effect on Hex Amore » activity in transfected COS0-1 cells, producing a B1 variant biochemical phenotype. The paternal allele apparently caused decreased abundance of mRNA, since no candidate paternal mutations were found in cloned reverse transcription-PCR (RT-PCR) products in the reported study. The biochemical phenotype of the original patient and the properties of the cDNA carrying the G[sub 574] [yields] C mutation in transient expression studies were compatible with a B1 variant mutation. The possibility remained that there might be some contribution from the paternal allele to the patient's phenotype. However, the paternal allele produces relatively low yields of a largely mis-spliced mRNA whose product would not be functional. Therefore, the G[sub 574] [yields] C (val[yields]leu) mutation in the maternal allele is clearly confirmed as a B1 variant mutation with all the ramifications for the substrate binding site and/or catalytic center that this implies.« less

Dominance of highly divergent feline leukemia virus A progeny variants in a cat with recurrent viremia and fatal lymphoma.

PubMed

Helfer-Hungerbuehler, A Katrin; Cattori, Valentino; Boretti, Felicitas S; Ossent, Pete; Grest, Paula; Reinacher, Manfred; Henrich, Manfred; Bauer, Eva; Bauer-Pham, Kim; Niederer, Eva; Holznagel, Edgar; Lutz, Hans; Hofmann-Lehmann, Regina

2010-02-19

In a cat that had ostensibly recovered from feline leukemia virus (FeLV) infection, we observed the reappearance of the virus and the development of fatal lymphoma 8.5 years after the initial experimental exposure to FeLV-A/Glasgow-1. The goals of the present study were to investigate this FeLV reoccurrence and molecularly characterize the progeny viruses. The FeLV reoccurrence was detected by the presence of FeLV antigen and RNA in the blood and saliva. The cat was feline immunodeficiency virus positive and showed CD4+ T-cell depletion, severe leukopenia, anemia and a multicentric monoclonal B-cell lymphoma. FeLV-A, but not -B or -C, was detectable. Sequencing of the envelope gene revealed three FeLV variants that were highly divergent from the virus that was originally inoculated (89-91% identity to FeLV-A/Glasgow-1). In the long terminal repeat 31 point mutations, some previously described in cats with lymphomas, were detected. The FeLV variant tissue provirus and viral RNA loads were significantly higher than the FeLV-A/Glasgow-1 loads. Moreover, the variant loads were significantly higher in lymphoma positive compared to lymphoma negative tissues. An increase in the variant provirus blood load was observed at the time of FeLV reoccurrence. Our results demonstrate that ostensibly recovered FeLV provirus-positive cats may act as a source of infection following FeLV reactivation. The virus variants that had largely replaced the inoculation strain had unusually heavily mutated envelopes. The mutations may have led to increased viral fitness and/or changed the mutagenic characteristics of the virus.

Morphology and molecular taxonomy of Evlachovaea-like fungi, and the status of this unusual conidial genus

USDA-ARS?s Scientific Manuscript database

The entomopathogenic anamorphic genus Evlachovaea was described to differ from other fungi in forming its conidia obliquely to the axis of the conidiogenous cell and with successive conidia having alternate orientations with a zipper- or chevron-like arrangement resulting in flat, ribbon-like chains...

Arrasia rostrata (Basidiomycota), a new corticioid genus and species from Italy

Treesearch

Annarosa Bernicchia; Sergio P. Gorj& #243; n; Karen K. Nakasone

2011-01-01

An unusual corticioid species with distinctive large basidiospores that develop a distal refractive rostrum when fully mature is described as new. It grows on living bark of Juniperus phoenicea on the Italian island of Sardinia. Because it is morphologically distinct from any known genus of corticioid fungi, the new genus Arrasia...

Schizophrenia and the structure of language: the linguist's view.

PubMed

Covington, Michael A; He, Congzhou; Brown, Cati; Naçi, Lorina; McClain, Jonathan T; Fjordbak, Bess Sirmon; Semple, James; Brown, John

2005-09-01

Patients with schizophrenia often display unusual language impairments. This is a wide ranging critical review of the literature on language in schizophrenia since the 19th century. We survey schizophrenic language level by level, from phonetics through phonology, morphology, syntax, semantics, and pragmatics. There are at least two kinds of impairment (perhaps not fully distinct): thought disorder, or failure to maintain a discourse plan, and schizophasia, comprising various dysphasia-like impairments such as clanging, neologism, and unintelligible utterances. Thought disorder appears to be primarily a disruption of executive function and pragmatics, perhaps with impairment of the syntax-semantics interface; schizophasia involves disruption at other levels. Phonetics is also often abnormal (manifesting as flat intonation or unusual voice quality), but phonological structure, morphology, and syntax are normal or nearly so (some syntactic impairments have been demonstrated). Access to the lexicon is clearly impaired, manifesting as stilted speech, word approximation, and neologism. Clanging (glossomania) is straightforwardly explainable as distraction by self-monitoring. Recent research has begun to relate schizophrenia, which is partly genetic, to the genetic endowment that makes human language possible.

Pandora Fretum Crater

NASA Technical Reports Server (NTRS)

2002-01-01

[figure removed for brevity, see original site] (Released 26 July 2002) Another in a series of craters with unusual interior deposits, this THEMIS image shows an unnamed crater in the southern hemisphere Pandora Fretum region near the Hellas Basin. Craters with eroded layered deposits are quite common on Mars but the crusty textured domes in the center of the image make this crater more unusual. Looking vaguely like granitic intrusions, there erosional style is distinct from the rest of the interior deposit which shows a very obvious layered morphology. While it is unlikely that the domes are granite plutons, it is possible that they do represent some other shallowly emplaced magmatic intrusion. More likely still is that variations in induration of the layered deposit allow for variations in the erosional morphology. Note how the surface of the crater floor in the northernmost portion of the image has a texture similar to that of the domes. This may represent an incipient form of the erosion that has produced the domes but has not progressed as far. An analysis of other craters in the area may shed light on the origin of the domes.

Diblock copolymers of polystyrene- b-poly(1,3-cyclohexadiene) exhibiting unique three-phase microdomain morphologies

DOE PAGES

Misichronis, Konstantinos; Chen, Jihua; Kahk, Jong K.; ...

2016-03-29

Here, the synthesis and molecular characterization of a series of conformationally asymmetric polystyrene-block-poly(1,3-cyclohexadiene) (PS- b-PCHD) diblock copolymers (PCHD: ~90% 1,4 and ~10% 1,2), by sequential anionic copolymerization high vacuum techniques, is reported. A wide range of volume fractions (0.27 ≤ Φ PS ≤ 0.91) was studied by transmission electron microscopy and small-angle X-ray scattering in order to explore in detail the microphase separation behavior of these flexible/semiflexible diblock copolymers. Unusual morphologies, consisting of PCHD core(PCHD-1,4)–shell(PCHD-1,2) cylinders in PS matrix and three-phase (PS, PCHD-1,4, PCHD-1,2) four-layer lamellae, were observed suggesting that the chain stiffness of the PCHD block and the strongmore » dependence of the interaction parameter χ on the PCHD microstructures are important factors for the formation of this unusual microphase separation behavior in PS- b-PCHD diblock copolymers. © 2016 Wiley Periodicals, Inc. J. Polym. Sci., Part B: Polym. Phys. 2016, 54, 1564–1572« less

[Variants of choice of surgical treatment of chronic pancreatitis in consideration of morphological changes in the pancreas].

PubMed

Priadko, A S; Maĭstrenko, N A; Romashchenko, P N

2014-01-01

The results of examination and treatment of 445 patients with chronic pancreatitis were analyzed. It was established, that 298 (67%) patients had indications for treatment in the conditions of surgical hospital. The patients were divided into three groups according to the modified pancreatitis classification of Marseilles-Rome 1988. There were the calcifying form (n = 78), obstructive form (n = 81), inflammatory form (n = 139). The application of modern methods of diagnostics and treatment of chronic pancreatitis allowed modifying the classification by selection of subgroups for each form of the disease. It was stated, that the substantiation of variants of surgical treatment of chronic pancreatitis in consideration of morphological changes in the pancreas could improve the possibilities of medical care plan for patients with minimal complications and good quality of life in long-term period of time.

A rare variant of internal anatomy of a third mandibular molar: a case report.

PubMed

Nimigean, V; Nimigean, Vanda Roxana; Sălăvăstru, D I

2011-01-01

The several anatomical variations existing in the root canal system may contribute to failure of the root canal therapy. Knowledge of the internal dental morphology is a complex and extremely important point for planning and performing endodontic therapy. This paper reports the case of a left mandibular third molar that presented only one dental conical root and only one aberrant radicular canal with an initial annular portion situated in the coronar third of the root and a linear portion at the level of the other two thirds of the dental root, which opened through an apical foramen. Root canal therapy and case management are described. Features like wide crown access, adequate illumination and use of exploring files where important for successful completion of the endodontic treatment. The treatment was performed through conventional methods. This clinical case constitutes a rare anatomical variant of internal radicular morphology.

Clinicopathologic features and management of blastoid variant of mantle cell lymphoma.

PubMed

Shrestha, Rajesh; Bhatt, Vijaya Raj; Guru Murthy, Guru Subramanian; Armitage, James O

2015-01-01

The blastoid variant of mantle cell lymphoma (MCL), which accounts for less than one-third of MCL, may arise de novo or as a transformation from the classical form of MCL. Blastoid variant, which predominantly involves men in their sixth decade, has frequent extranodal involvement (40-60%), stage IV disease (up to 85%) and central nervous system (CNS) involvement. Diagnosis relies on morphological features and is challenging. Immunophenotyping may display CD23 and CD10 positivity and CD5 negativity in a subset. Genetic analysis demonstrates an increased number of complex genetic alterations. Blastoid variant responds poorly to conventional chemotherapy and has a short duration of response. Although the optimal therapy remains to be established, CNS prophylaxis and the use of aggressive immunochemotherapy followed by autologous stem cell transplant may prolong the remission rate and survival. Further studies are crucial to expand our understanding of this disease entity and improve the clinical outcome.

Neotropical Monogenoidea. 53. Gyrodactylus corydori sp. n. and redescription of Gyrodactylus anisopharynx (Gyrodactylidea: Gyrodactylidae), parasites of Corydoras spp. (Siluriformes: Callichthyidae) from southern Brazil.

PubMed

Bueno-Silva, Marlus; Boeger, Walter A

2009-03-01

Morphometric analyses are used to evaluate the taxonomic status of two sympatric variants of Gyrodactylus anisopharynx Popazoglo et Boeger, 2000 (forma "large-pharynx" and forma "small-pharynx"). The parasites were collected from the Piraquara River and the Miringuava River, State of Paraná, Brazil, between February 2005 and May 2006. A total of 132 parasites were measured from two hosts, Corydoras ehrhardti Steindachner and Corydoras paleatus (Jenyns). Eleven morphological features of the haptoral sclerites and pharynx were measured and analysed by discriminant analysis and principal components analysis. The results indicate that the observed morphological variation cannot be associated to intraspecific variation or phenotypic plasticity (P < 0.0001). Consequently, the two variants previously allocated in G. anisopharynx represent two independent species. Since the holotype was defined as the variant "large-pharynx", Gyrodactylus corydori sp. n. is proposed to accommodate specimens previously reported as "small-pharynx" variant of G. anisopharynx. Morphometric analyses showed that the hook, the anchor, and the pharyngeal bulb are significantly distinct (P < 0.0001) between G. corydori sp. n. and G. anisopharynx (s.s.). The new species is characterized by having hooks with point moderately curved, robust convex heel, convex shelf, toe concave moderately pointed with depression; deep bar with two submedial, posterior projections; anchors with robust superficial root; superficial bar with two small anterolateral projections; and male copulatory organ armed with two rows of spinelets.

Ballistic tongue projection in a miniaturized salamander.

PubMed

Deban, Stephen M; Bloom, Segall V

2018-05-20

Miniaturization of body size is often accompanied by peculiarities in morphology that can have functional consequences. We examined the feeding behavior and morphology of the miniaturized plethodontid salamander Thorius, one of the smallest vertebrates, to determine if its performance and biomechanics differ from those of its larger relatives. High-speed imaging and dynamics analysis of feeding at a range of temperatures show that tongue projection in Thorius macdougalli is ballistic and achieves accelerations of up to 600 G with low thermal sensitivity, indicating that tongue projection is powered by an elastic-recoil mechanism. Preceding ballistic projection is an unusual preparatory phase of tongue protrusion, which, like tongue retraction, shows lower performance and higher thermal sensitivity that are indicative of movement being powered directly by muscle shortening. The variability of tongue-projection kinematics and dynamics is comparable to larger ballistic-tongued plethodontids and reveals that Thorius is capable of modulating its tongue movements in response to prey distance. Morphological examination revealed that T. macdougalli possesses a reduced number of myofibers in the tongue muscles, a large projector muscle mass relative to tongue mass, and an unusual folding of the tongue skeleton, compared with larger relatives. Nonetheless, T. macdougalli retains the elaborated collagen aponeuroses in the projector muscle that store elastic energy and a tongue skeleton that is free of direct myofiber insertion, two features that appear to be essential for ballistic tongue projection in salamanders. © 2018 Wiley Periodicals, Inc.

Structural determinants of phosphoinositide selectivity in splice variants of Grp1 family PH domains

PubMed Central

Cronin, Thomas C; DiNitto, Jonathan P; Czech, Michael P; Lambright, David G

2004-01-01

The pleckstrin homology (PH) domains of the homologous proteins Grp1 (general receptor for phosphoinositides), ARNO (Arf nucleotide binding site opener), and Cytohesin-1 bind phosphatidylinositol (PtdIns) 3,4,5-trisphosphate with unusually high selectivity. Remarkably, splice variants that differ only by the insertion of a single glycine residue in the β1/β2 loop exhibit dual specificity for PtdIns(3,4,5)P3 and PtdIns(4,5)P2. The structural basis for this dramatic specificity switch is not apparent from the known modes of phosphoinositide recognition. Here, we report crystal structures for dual specificity variants of the Grp1 and ARNO PH domains in either the unliganded form or in complex with the head groups of PtdIns(4,5)P2 and PtdIns(3,4,5)P3. Loss of contacts with the β1/β2 loop with no significant change in head group orientation accounts for the significant decrease in PtdIns(3,4,5)P3 affinity observed for the dual specificity variants. Conversely, a small increase rather than decrease in affinity for PtdIns(4,5)P2 is explained by a novel binding mode, in which the glycine insertion alleviates unfavorable interactions with the β1/β2 loop. These observations are supported by a systematic mutational analysis of the determinants of phosphoinositide recognition. PMID:15359279

The cnidarian Hydractinia echinata employs canonical and highly adapted histones to pack its DNA.

PubMed

Török, Anna; Schiffer, Philipp H; Schnitzler, Christine E; Ford, Kris; Mullikin, James C; Baxevanis, Andreas D; Bacic, Antony; Frank, Uri; Gornik, Sebastian G

2016-01-01

Cnidarians are a group of early branching animals including corals, jellyfish and hydroids that are renowned for their high regenerative ability, growth plasticity and longevity. Because cnidarian genomes are conventional in terms of protein-coding genes, their remarkable features are likely a consequence of epigenetic regulation. To facilitate epigenetics research in cnidarians, we analysed the histone complement of the cnidarian model organism Hydractinia echinata using phylogenomics, proteomics, transcriptomics and mRNA in situ hybridisations. We find that the Hydractinia genome encodes 19 histones and analyse their spatial expression patterns, genomic loci and replication-dependency. Alongside core and other replication-independent histone variants, we find several histone replication-dependent variants, including a rare replication-dependent H3.3, a female germ cell-specific H2A.X and an unusual set of five H2B variants, four of which are male germ cell-specific. We further confirm the absence of protamines in Hydractinia. Since no protamines are found in hydroids, we suggest that the novel H2B variants are pivotal for sperm DNA packaging in this class of Cnidaria. This study adds to the limited number of full histone gene complements available in animals and sets a comprehensive framework for future studies on the role of histones and their post-translational modifications in cnidarian epigenetics. Finally, it provides insight into the evolution of spermatogenesis.

ABC triblock copolymer vesicles with mesh-like morphology.

PubMed

Zhao, Wei; Chen, Dian; Hu, Yunxia; Grason, Gregory M; Russell, Thomas P

2011-01-25

Polymer vesicles made from poly(isoprene-b-styrene-b-2-vinyl pyridine) (PI-b-PS-b-P2VP) triblock copolymer confined within the nanopores of an anodic aluminum oxide (AAO) membrane are studied. It was found that these vesicles have well-defined, nanoscopic size, and complex microphase-separated hydrophobic membranes, comprised of the PS and PI blocks, while the coronas are formed by the P2VP block. Vesicle formation was tracked using both transmission and scanning electron microscopy. A mesh-like morphology formed in the membrane at a well-defined composition of the three blocks that can be tuned by changing the copolymer composition. The nanoscale confinement, copolymer composition, and subtle molecular interactions contribute to the generation of these vesicles with such unusual morphologies.

Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.

PubMed

Smith, Douglas R; Stanley, Christine M; Foss, Theodore; Boles, Richard G; McKernan, Kevin

2017-01-01

Rare genetic variants in the core endocannabinoid system genes CNR1, CNR2, DAGLA, MGLL and FAAH were identified in molecular testing data from 6,032 patients with a broad spectrum of neurological disorders. The variants were evaluated for association with phenotypes similar to those observed in the orthologous gene knockouts in mice. Heterozygous rare coding variants in CNR1, which encodes the type 1 cannabinoid receptor (CB1), were found to be significantly associated with pain sensitivity (especially migraine), sleep and memory disorders-alone or in combination with anxiety-compared to a set of controls without such CNR1 variants. Similarly, heterozygous rare variants in DAGLA, which encodes diacylglycerol lipase alpha, were found to be significantly associated with seizures and neurodevelopmental disorders, including autism and abnormalities of brain morphology, compared to controls. Rare variants in MGLL, FAAH and CNR2 were not associated with any neurological phenotypes in the patients tested. Diacylglycerol lipase alpha synthesizes the endocannabinoid 2-AG in the brain, which interacts with CB1 receptors. The phenotypes associated with rare CNR1 variants are reminiscent of those implicated in the theory of clinical endocannabinoid deficiency syndrome. The severe phenotypes associated with rare DAGLA variants underscore the critical role of rapid 2-AG synthesis and the endocannabinoid system in regulating neurological function and development. Mapping of the variants to the 3D structure of the type 1 cannabinoid receptor, or primary structure of diacylglycerol lipase alpha, reveals clustering of variants in certain structural regions and is consistent with impacts to function.

Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism.

PubMed

Woody, April L; Hsieh, David T; McIver, Harkirtin K; Thomas, Linda P; Rohena, Luis

2015-04-01

Vanishing White Matter disease (VWM) is an inherited progressive leukoencephalopathy caused by mutations in the genes EIF2B1-5, which encode for the 5 subunits of the eukaryotic initiation factor 2B (eIF2B), a regulator of protein synthesis. VWM typically presents with acute neurological decline following febrile infections or minor head trauma, and subsequent progressive neurological and cognitive regression. There is a varied clinical spectrum of VWM, with earlier onset associated with more severe phenotypes. Brain magnetic resonance imaging is usually diagnostic with diffusely abnormal white matter, progressing over time to cystic degeneration. We are reporting on a patient with infantile onset VWM associated with three heterozygous missense variants in EIF2B5, including a novel missense variant on exon 6 of EIF2B5 (D262N), as well as an interstitial duplication at 7q21.12. In addition, our case is unusual because of a severe epilepsy course, a novel clinical finding of hypopituitarism manifested by hypothyroidism and adrenal insufficiency, and a prolonged life span with current age of survival of 4 years and 11 months. © 2015 Wiley Periodicals, Inc.

Structure of the meningococcal vaccine antigen NadA and epitope mapping of a bactericidal antibody.

PubMed

Malito, Enrico; Biancucci, Marco; Faleri, Agnese; Ferlenghi, Ilaria; Scarselli, Maria; Maruggi, Giulietta; Lo Surdo, Paola; Veggi, Daniele; Liguori, Alessia; Santini, Laura; Bertoldi, Isabella; Petracca, Roberto; Marchi, Sara; Romagnoli, Giacomo; Cartocci, Elena; Vercellino, Irene; Savino, Silvana; Spraggon, Glen; Norais, Nathalie; Pizza, Mariagrazia; Rappuoli, Rino; Masignani, Vega; Bottomley, Matthew James

2014-12-02

Serogroup B Neisseria meningitidis (MenB) is a major cause of severe sepsis and invasive meningococcal disease, which is associated with 5-15% mortality and devastating long-term sequelae. Neisserial adhesin A (NadA), a trimeric autotransporter adhesin (TAA) that acts in adhesion to and invasion of host epithelial cells, is one of the three antigens discovered by genome mining that are part of the MenB vaccine that recently was approved by the European Medicines Agency. Here we present the crystal structure of NadA variant 5 at 2 Å resolution and transmission electron microscopy data for NadA variant 3 that is present in the vaccine. The two variants show similar overall topology with a novel TAA fold predominantly composed of trimeric coiled-coils with three protruding wing-like structures that create an unusual N-terminal head domain. Detailed mapping of the binding site of a bactericidal antibody by hydrogen/deuterium exchange MS shows that a protective conformational epitope is located in the head of NadA. These results provide information that is important for elucidating the biological function and vaccine efficacy of NadA.

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome.

PubMed

Puvabanditsin, Surasak; Abellar, Rosanna; Madubuko, Adaora; Mehta, Rajeev; Walzer, Lauren

2018-01-01

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature.

Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome

PubMed Central

Abellar, Rosanna; Madubuko, Adaora; Mehta, Rajeev

2018-01-01

We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11. The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature. PMID:29670795

Colonic motility in proctalgia fugax.

PubMed

Harvey, R F

1979-10-06

Intraluminal pressure recordings were obtained from the rectum and sigmoid colon in two patients experiencing attacks of proctalgia fugax. In each patient the pain appeared to result from contractions of the sigmoid colon, and not from spasm of the levator ani, rectal wall muscle, or anal sphincters, all of which have previously been suggested as the source of such pain. Proctalgia fugax therefore appears, at least in some patients, to be an unusual variant of the irritable bowel syndrome, in which pain is referred from the sigmoid colon to the rectum.

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

PubMed

Sengillo, Jesse D; Lee, Winston; Nagasaki, Takayuki; Schuerch, Kaspar; Yannuzzi, Lawrence A; Freund, K Bailey; Sparrow, Janet R; Allikmets, Rando; Tsang, Stephen H

2018-06-01

Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multimodal retinal imaging to elucidate genotype-phenotype correlations in EYS-related RP (EYS-RP). Cross-sectional study. Multimodal retinal imaging and electrophysiologic testing were assessed for 16 patients with genetic confirmation of EYS-RP. A total of 27 unique EYS variants were identified in 16 patients. Seven patients presented with an unusual crescent-shaped hyperautofluorescent (hyperAF) ring on fundus autofluorescence (FAF) imaging encompassing a large nasal-superior area of the posterior pole. Three patients had a typical circular or oval perifoveal hyperAF ring and 6 patients had no hyperAF ring. Spectral-domain (SD) and en face optical coherence tomography (OCT) showed preserved ellipsoid zone and retinal thickness spatially corresponding to areas within the hyperAF rings. Eleven patients presented with a rod-cone dystrophy on full-field electroretinogram (ffERG), 1 patient presented with cone-rod dystrophy, and 4 patients did not undergo ffERG testing. A significant spatial association was found between EYS variant position and FAF phenotype, with variants occurring at a nucleotide position greater than GRCh37 6:65300137 (c.5617C) being more associated with patients exhibiting hyperAF rings at presentation. EYS-RP is a heterogeneous manifestation. Variants occurring in positions closer to the C-terminus of EYS are more common in patients presenting with hyperAF rings on FAF imaging. Copyright © 2018 Elsevier Inc. All rights reserved.

Pediatric nodal marginal zone lymphoma may develop in the adult population.

PubMed

Gitelson, Elena; Al-Saleem, Tahseen; Robu, Valentin; Millenson, Michael M; Smith, Mitchell R

2010-01-01

Pediatric nodal marginal zone lymphoma (NMZL) is described as a separate variant of NMZL in the most recent WHO classification of tumors of hematologic and lymphoid tissues. It has distinctive morphology and clinical presentation and stands out as an indolent disease with remarkably better overall prognosis compared to classic NMZL. Here we report two adult patients with NMZL with clinical and morphologic features consistent with pediatric NMZL (pNMZL) and review available literature describing the clinical and histologic presentation of pNMZL. Two men, ages 44 and 18 years, each presented with localized cervical lymphadenopathy, both demonstrated florid proliferation of the marginal zone and disruption of reactive germinal centers, progressive transformation of germinal centers-like morphologic features typical for pNMZL and clonal disease with immunophenotype consistent with NMZL. This is the first report of pNMZL in a middle-aged person. Distinct histologic features and characteristic benign clinical course will help to distinguish this rare variant from other NMZL in the adults. Clinically, recognition is important to understand the true incidence of this rare form in the adult population and to avoid unnecessary overtreatment of this indolent form.

The many faces and mimics of papillary thyroid carcinoma.

PubMed

Albores-Saavedra, Jorge; Wu, Jianhua

2006-01-01

This article provides an overview of the 15 histologic variants of papillary thyroid carcinoma listed by the 2004 World Health Organization (WHO) monograph on endocrine tumors. The histologic features, differential diagnosis, and clinical course of each variant are discussed in some detail. The follicular variants (conventional and macrofollicular) constitute a morphologic challenge because the majority of these tumors are encapsulated and, also, because, in many tumors, not all neoplastic cells show the nuclear features considered to be diagnostic of papillary carcinoma. As a result, most of these tumors are missed even by experienced pathologists. Moreover, hyperplastic thyroid lesions, follicular adenomas, and Hashimoto's thyroiditis may contain cells with clear nuclei resembling those of papillary carcinoma. Papillary carcinomas composed entirely of hyperchromatic cells have been overlooked. The WHO monograph defines papillary carcinoma with focal spindle and giant cell carcinoma components but its clinical behavior is unknown. Papillary carcinoma with an insular pattern that does not show the artifactual separation of the cell nests has been misinterpreted as the solid variant of papillary carcinoma. Papillary microcarcinomas include not only the conventional type and the follicular variants but also the tall cell and columnar cell variants.

Nacre-like calcium carbonate controlled by ionic liquid/graphene oxide composite template.

PubMed

Yao, Chengli; Xie, Anjian; Shen, Yuhua; Zhu, Jinmiao; Li, Hongying

2015-06-01

Nacre-like calcium carbonate nanostructures have been mediated by an ionic liquid (IL)-graphene oxide (GO) composite template. The resultant crystals were characterized by scanning electron microscopy (SEM), Fourier transform infrared (FT-IR) spectroscopy, and X-ray powder diffractometry (XRD). The results showed that either 1-butyl-3-methylimidazolium tetrafluoroborate ([BMIM]BF4) or graphene oxide can act as a soft template for calcium carbonate formation with unusual morphologies. Based on the time-dependent morphology changes of calcium carbonate particles, it is concluded that nacre-like calcium carbonate nanostructures can be formed gradually utilizing [BMIM]BF4/GO composite template. During the process of calcium carbonate formation, [BMIM]BF4 acted not only as solvents but also as morphology templates for the fabrication of calcium carbonate materials with nacre-like morphology. Based on the observations, the possible mechanisms were also discussed. Copyright © 2015 Elsevier B.V. All rights reserved.

Definite Markers, Phi-Features, and Agreement: A Morphosyntactic Investigation of the Amharic DP

ERIC Educational Resources Information Center

Kramer, Ruth

2009-01-01

This dissertation has two inter-related goals: (i) to describe and provide novel analyses of three types of important and difficult phenomena within Amharic DPs and (ii) to explore the properties of the syntax-morphology interface. The core phenomena explicated are the unusual distribution of the definite marker, the gender system (which relies…

The structure and mobility of the intervariant boundaries in 18R martensite in a Cu-Zn-Al alloy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhang, J.X.; Zheng, Y.F.; Zhao, L.C.

1999-05-28

Detailed crystallographic analysis was carried out on the martensitic transformation and the various variant combinations in 18R martensite in a Cu-Zn-Al alloy. The self-accommodation of martensitic shear strain is quite perfect within a variant group, but not effective or even does not exist for variant combinations which belong to different groups. Twenty-three unique variant combinations between 24 martensite variants can be divided into four groups, i.e. reflection twin, 180 rotation twin, 120 rotation twin and 90 rotation twin. TEM and HREM observations show that the A C boundary is straight, well-defined and perfectly coherent, the A B boundary is irrational,more » coherent and gradually curved, and the A D boundary is stepped. The A C and A B boundaries have obvious mobility, and the mobility is not effective for A D boundary. The interplate group boundaries are curved, blurred and immobile. The morphology, structure and mobility of interplate boundary are all related to the degree of self-accommodation and the misorientation of twin boundary.« less

Cerebral and non-cerebral coenurosis: on the genotypic and phenotypic diversity of Taenia multiceps.

PubMed

Christodoulopoulos, Georgios; Dinkel, Anke; Romig, Thomas; Ebi, Dennis; Mackenstedt, Ute; Loos-Frank, Brigitte

2016-12-01

We characterised the causative agents of cerebral and non-cerebral coenurosis in livestock by determining the mitochondrial genotypes and morphological phenotypes of 52 Taenia multiceps isolates from a wide geographical range in Europe, Africa, and western Asia. Three studies were conducted: (1) a morphological comparison of the rostellar hooks of cerebral and non-cerebral cysts of sheep and goats, (2) a morphological comparison of adult worms experimentally produced in dogs, and (3) a molecular analysis of three partial mitochondrial genes (nad1, cox1, and 12S rRNA) of the same isolates. No significant morphological or genetic differences were associated with the species of the intermediate host. Adult parasites originating from cerebral and non-cerebral cysts differed morphologically, e.g. the shape of the small hooks and the distribution of the testes in the mature proglottids. The phylogenetic analysis of the mitochondrial haplotypes produced three distinct clusters: one cluster including both cerebral isolates from Greece and non-cerebral isolates from tropical and subtropical countries, and two clusters including cerebral isolates from Greece. The majority of the non-cerebral specimens clustered together but did not form a monophyletic group. No monophyletic groups were observed based on geography, although specimens from the same region tended to cluster. The clustering indicates high intraspecific diversity. The phylogenetic analysis suggests that all variants of T. multiceps can cause cerebral coenurosis in sheep (which may be the ancestral phenotype), and some variants, predominantly from one genetic cluster, acquired the additional capacity to produce non-cerebral forms in goats and more rarely in sheep.

Characterizing Sexual Behavior in Frontotemporal Dementia.

PubMed

Ahmed, Rebekah M; Kaizik, Cassandra; Irish, Muireann; Mioshi, Eneida; Dermody, Nadene; Kiernan, Matthew C; Piguet, Olivier; Hodges, John R

2015-01-01

Frontotemporal dementia (FTD) is characterized by a number of prominent behavioral changes. While FTD has been associated with the presence of aberrant or unusual sexual behaviors in a proportion of patients, few studies have formally investigated changes in sexual function in this disease. We aimed to systematically quantify changes in sexual behavior, including current symptoms and changes from prior diagnoses, in behavioral-variant (bvFTD) and semantic dementia (SD), compared to Alzheimer's disease (AD). Carers of 49 dementia patients (21 bvFTD, 11 SD, 17 AD) were interviewed using the Sexual Behavior and Intimacy Questionnaire (SIQ), a survey designed to assess changes in sexual function across multiple domains including initiating, level of affection, and aberrant or unusual sexual behavior. BvFTD patients show prominent hyposexual behavior including decreased affection, initiation, and response to advances by partners, and decreased frequency of sexual relations, compared to AD and to SD patients. The greatest changes in sexual behavior compared to pre-diagnoses were found in the bvFTD group with a 90-100% decrease in initiation, response, and frequency of sexual relations. Notably, aberrant or unusual sexual behavior was reported in a minority of bvFTD and SD patients and occurred in patients who also showed hyposexual behavior toward their partner. Overall loss of affection, reduced initiation of sexual activity, and responsiveness is an overwhelming feature of bvFTD. In contrast, aberrant or unusual sexual behavior is observed in the minority of bvFTD patients. The underlying pathophysiology of these changes likely reflects structural and functional changes in frontoinsular and limbic regions including the hypothalamus.

The Polycystic Ovary Morphology-Polycystic Ovary Syndrome Spectrum

PubMed Central

Rosenfield, Robert L.

2014-01-01

Background Polycystic ovary syndrome (PCOS) is the most common cause of chronic hyperandrogenic anovulation. Two-thirds of PCOS patients have functionally typical PCOS, with typical functional ovarian hyperandrogenism manifest as 17-hydroxyprogesterone hyper-responsiveness to gonadotropin stimulation. Most, but not all, of the remainder have atypical functional ovarian hyperandrogenism. Many asymptomatic volunteers with polycystic ovary morphology (PCOM) have similar abnormalities. Objective The objective of this paper is to review the relationship of biochemical ovarian function to the clinical spectrum observed in PCOS and in normal volunteers with PCOM. Findings Adolescents and adults with PCOS are similar clinically and biochemically. Ninety-five percent of functionally typical PCOS have classic PCOS, ie, hyperandrogenic anovulation with PCOM. In addition to having more severe hyperandrogenism and a greater prevalence of PCOM than other PCOS, they have a significantly greater prevalence of glucose intolerance although insulin resistance is similarly reduced. Half of normal-variant PCOM have PCOS-related steroidogenic dysfunction, which suggests a PCOS carrier state. Conclusions There is a spectrum of ovarian androgenic dysfunction that ranges from subclinical hyperandrogenemia in some normal-variant PCOM to severe ovarian hyperandrogenism in most classic PCOS. A minority of mild PCOS cases do not fall on this spectrum of ovarian androgenic dysfunction, but rather seem to have obesity as the basis of their hyperandrogenism, or, less often, isolated adrenal androgenic dysfunction. Half of normal-variant PCOM also do not fall on the PCOS spectrum, and some of these seem to have excessive folliculogenesis as a variant that may confer mild prolongation of the reproductive lifespan. Improved understanding of PCOM in young women is needed. PMID:25840648

A short term quality control tool for biodegradable microspheres.

PubMed

D'Souza, Susan; Faraj, Jabar A; Dorati, Rossella; DeLuca, Patrick P

2014-06-01

Accelerated in vitro release testing methodology has been developed as an indicator of product performance to be used as a discriminatory quality control (QC) technique for the release of clinical and commercial batches of biodegradable microspheres. While product performance of biodegradable microspheres can be verified by in vivo and/or in vitro experiments, such evaluation can be particularly challenging because of slow polymer degradation, resulting in extended study times, labor, and expense. Three batches of Leuprolide poly(lactic-co-glycolic acid) (PLGA) microspheres having varying morphology (process variants having different particle size and specific surface area) were manufactured by the solvent extraction/evaporation technique. Tests involving in vitro release, polymer degradation and hydration of the microspheres were performed on the three batches at 55°C. In vitro peptide release at 55°C was analyzed using a previously derived modification of the Weibull function termed the modified Weibull equation (MWE). Experimental observations and data analysis confirm excellent reproducibility studies within and between batches of the microsphere formulations demonstrating the predictability of the accelerated experiments at 55°C. The accelerated test method was also successfully able to distinguish the in vitro product performance between the three batches having varying morphology (process variants), indicating that it is a suitable QC tool to discriminate product or process variants in clinical or commercial batches of microspheres. Additionally, data analysis utilized the MWE to further quantify the differences obtained from the accelerated in vitro product performance test between process variants, thereby enhancing the discriminatory power of the accelerated methodology at 55°C.

Extramedullary (EMP) relapse in unusual locations in multiple myeloma: Is there an association with precedent thalidomide administration and a correlation of special biological features with treatment and outcome?

PubMed

Katodritou, E; Gastari, V; Verrou, E; Hadjiaggelidou, C; Varthaliti, M; Georgiadou, S; Laschos, K; Xirou, P; Yiannaki, E; Constantinou, N; Markala, D; Zervas, K

2009-08-01

Extramedullary relapse constitutes an uncommon manifestation of multiple myeloma (MM), characterized by highly malignant histology, special biological features, resistance to treatment and poor outcome. Its incidence has been increased during the last years, probably due to the introduction of novel strategies in the management of MM, including intensified treatment and immunomodulatory drugs. Here we report nine cases of extramedullary relapse of MM, presented in unusual locations, seven of which had previously been treated with thalidomide-containing regimens (TCR). Our aim was to explore the morphological, immunophenotypical, molecular and laboratory characteristics accompanying EMP-relapse and seek possible correlations with treatment and clinical outcome.

Primary Renal Hybrid Low-grade Fibromyxoid Sarcoma-Sclerosing Epithelioid Fibrosarcoma: An Unusual Pediatric Case With EWSR1-CREB3L1 Fusion.

PubMed

Mok, Yingting; Pang, Yin Huei; Sanjeev, Jain Sudhanshi; Kuick, Chik Hong; Chang, Kenneth Tou-En

2018-01-01

Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS. We herein describe the clinicopathological features and genetic findings of a case of primary renal hybrid LGFMS-SEF occurring in a 10-year-old child, with disseminated metastases. Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was performed on both the primary renal tumor that showed the morphology of a LGFMS, and a cervical metastasis that showed the morphology of SEF. An EWSR1-CREB3L1 gene fusion occurring between exon 11 of EWSR1 and exon 6 of CREB3L1 was present in both the LGFMS and SEF components. This unusual case provides evidence that a subset of hybrid LGFMS-SEF harbor EWSR1-CREB3L1 gene fusions. In this case, these features were associated with an aggressive clinical course, with disease-associated mortality occurring within 12 months of diagnosis.

An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

PubMed

de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

2013-01-01

Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

WISE J233237.05-505643.5: A Double-Peaked Broad-Lined AGN with Spiral-Shaped Radio Morphology

NASA Technical Reports Server (NTRS)

Tsai, Chao Wei; Jarrett, Thomas H.; Stern, Daniel; Emonts, Bjorn; Barrows, R. Scott; Assef, Roberto J.; Norris, Ray P.; Eisenhardt, Peter R. M.; Lonsdale, Carol; Blain, Andrew W.;

Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis.

PubMed

Asgari, Samira; McLaren, Paul J; Peake, Jane; Wong, Melanie; Wong, Richard; Bartha, Istvan; Francis, Joshua R; Abarca, Katia; Gelderman, Kyra A; Agyeman, Philipp; Aebi, Christoph; Berger, Christoph; Fellay, Jacques; Schlapbach, Luregn J

2016-01-01

One out of three pediatric sepsis deaths in high income countries occur in previously healthy children. Primary immunodeficiencies (PIDs) have been postulated to underlie fulminant sepsis, but this concept remains to be confirmed in clinical practice. Pseudomonas aeruginosa ( P. aeruginosa ) is a common bacterium mostly associated with health care-related infections in immunocompromised individuals. However, in rare cases, it can cause sepsis in previously healthy children. We used exome sequencing and bioinformatic analysis to systematically search for genetic factors underpinning severe P. aeruginosa infection in the pediatric population. We collected blood samples from 11 previously healthy children, with no family history of immunodeficiency, who presented with severe sepsis due to community-acquired P. aeruginosa bacteremia. Genomic DNA was extracted from blood or tissue samples obtained intravitam or postmortem. We obtained high-coverage exome sequencing data and searched for rare loss-of-function variants. After rigorous filtrations, 12 potentially causal variants were identified. Two out of eight (25%) fatal cases were found to carry novel pathogenic variants in PID genes, including BTK and DNMT3B . This study demonstrates that exome sequencing allows to identify rare, deleterious human genetic variants responsible for fulminant sepsis in apparently healthy children. Diagnosing PIDs in such patients is of high relevance to survivors and affected families. We propose that unusually severe and fatal sepsis cases in previously healthy children should be considered for exome/genome sequencing to search for underlying PIDs.

Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis

PubMed Central

Asgari, Samira; McLaren, Paul J.; Peake, Jane; Wong, Melanie; Wong, Richard; Bartha, Istvan; Francis, Joshua R.; Abarca, Katia; Gelderman, Kyra A.; Agyeman, Philipp; Aebi, Christoph; Berger, Christoph; Fellay, Jacques; Schlapbach, Luregn J.; Posfay-Barbe, Klara

2016-01-01

One out of three pediatric sepsis deaths in high income countries occur in previously healthy children. Primary immunodeficiencies (PIDs) have been postulated to underlie fulminant sepsis, but this concept remains to be confirmed in clinical practice. Pseudomonas aeruginosa (P. aeruginosa) is a common bacterium mostly associated with health care-related infections in immunocompromised individuals. However, in rare cases, it can cause sepsis in previously healthy children. We used exome sequencing and bioinformatic analysis to systematically search for genetic factors underpinning severe P. aeruginosa infection in the pediatric population. We collected blood samples from 11 previously healthy children, with no family history of immunodeficiency, who presented with severe sepsis due to community-acquired P. aeruginosa bacteremia. Genomic DNA was extracted from blood or tissue samples obtained intravitam or postmortem. We obtained high-coverage exome sequencing data and searched for rare loss-of-function variants. After rigorous filtrations, 12 potentially causal variants were identified. Two out of eight (25%) fatal cases were found to carry novel pathogenic variants in PID genes, including BTK and DNMT3B. This study demonstrates that exome sequencing allows to identify rare, deleterious human genetic variants responsible for fulminant sepsis in apparently healthy children. Diagnosing PIDs in such patients is of high relevance to survivors and affected families. We propose that unusually severe and fatal sepsis cases in previously healthy children should be considered for exome/genome sequencing to search for underlying PIDs. PMID:27703454

Candidate Sequence Variants and Fetal Hemoglobin in Children with Sickle Cell Disease Treated with Hydroxyurea

PubMed Central

Green, Nancy S.; Ender, Katherine L.; Pashankar, Farzana; Driscoll, Catherine; Giardina, Patricia J.; Mullen, Craig A.; Clark, Lorraine N.; Manwani, Deepa; Crotty, Jennifer; Kisselev, Sergey; Neville, Kathleen A.; Hoppe, Carolyn; Barral, Sandra

2013-01-01

Background Fetal hemoglobin level is a heritable complex trait that strongly correlates swith the clinical severity of sickle cell disease. Only few genetic loci have been identified as robustly associated with fetal hemoglobin in patients with sickle cell disease, primarily adults. The sole approved pharmacologic therapy for this disease is hydroxyurea, with effects largely attributable to induction of fetal hemoglobin. Methodology/Principal Findings In a multi-site observational analysis of children with sickle cell disease, candidate single nucleotide polymorphisms associated with baseline fetal hemoglobin levels in adult sickle cell disease were examined in children at baseline and induced by hydroxyurea therapy. For baseline levels, single marker analysis demonstrated significant association with BCL11A and the beta and epsilon globin loci (HBB and HBE, respectively), with an additive attributable variance from these loci of 23%. Among a subset of children on hydroxyurea, baseline fetal hemoglobin levels explained 33% of the variance in induced levels. The variant in HBE accounted for an additional 13% of the variance in induced levels, while variants in the HBB and BCL11A loci did not contribute beyond baseline levels. Conclusions/Significance These findings clarify the overlap between baseline and hydroxyurea-induced fetal hemoglobin levels in pediatric disease. Studies assessing influences of specific sequence variants in these and other genetic loci in larger populations and in unusual hydroxyurea responders are needed to further understand the maintenance and therapeutic induction of fetal hemoglobin in pediatric sickle cell disease. PMID:23409025

An intriguing high performance liquid chromatogram of a double heterozygosity for Hb Q-India/Hb D-Punjab.

PubMed

Badyal, Rama Kumari; Chhabra, Sanjeev; Sharma, Prashant; Das, Reena

2014-01-01

Cation exchange high performance liquid chromatography (HPLC) is commonly utilized as the first method of screening for thalassemias and hemoglobinopathies worldwide. This method of diagnosis requires knowledge of the clinical background and complete blood counts as well as skill and experience in interpreting the sometimes complex results produced. An asymptomatic 27-year-old pregnant North Indian woman was found to have a highly unusual chromatographic pattern with multiple unexpected peaks during routine antenatal screening. Most concerning was a C-window peak as Hb C (HBB: c.19G>A) is rare in ethnic Asian Indian populations. Cellulose acetate electrophoresis at alkaline pH (8.6) and parental screening were performed. These revealed the correct diagnosis to be a double heterozygosity for Hb Q-India (HBA1: c.193G>C) (an uncommon asymptomatic α-globin chain variant) plus Hb D-Punjab (HBB: c.364G>C) (a β-globin chain variant that is common in this region and is asymptomatic in the heterozygous state). The unexpected C-window peak was the hybrid of the abnormal α-Q-India and β-D-Punjab globin chains. Another small peak was explained as a variant Hb A2 formed by the combination of α-Q-India and δ-globin chains. Hematopathologists should be cognizant of the complex pattern resulting from coinheritance of both α- and β-globin structural variants. Second-line testing and parental testing are invaluable in resolving unknown peaks, especially if rare or unexpected variants are being considered. Although both Hb Q-India and Hb D-Punjab are relatively common in northwestern India, to the best of our knowledge, only two recent reports describe a total of three cases of such diagnostically puzzling coinheritance.

CYP3A variation and the evolution of salt-sensitivity variants.

PubMed

Thompson, E E; Kuttab-Boulos, H; Witonsky, D; Yang, L; Roe, B A; Di Rienzo, A

2004-12-01

Members of the cytochrome P450 3A subfamily catalyze the metabolism of endogenous substrates, environmental carcinogens, and clinically important exogenous compounds, such as prescription drugs and therapeutic agents. In particular, the CYP3A4 and CYP3A5 genes play an especially important role in pharmacogenetics, since they metabolize >50% of the drugs on the market. However, known genetic variants at these two loci are not sufficient to account for the observed phenotypic variability in drug response. We used a comparative genomics approach to identify conserved coding and noncoding regions at these genes and resequenced them in three ethnically diverse human populations. We show that remarkable interpopulation differences exist with regard to frequency spectrum and haplotype structure. The non-African samples are characterized by a marked excess of rare variants and the presence of a homogeneous group of long-range haplotypes at high frequency. The CYP3A5*1/*3 polymorphism, which is likely to influence salt and water retention and risk for salt-sensitive hypertension, was genotyped in >1,000 individuals from 52 worldwide population samples. The results reveal an unusual geographic pattern whereby the CYP3A5*3 frequency shows extreme variation across human populations and is significantly correlated with distance from the equator. Furthermore, we show that an unlinked variant, AGT M235T, previously implicated in hypertension and pre-eclampsia, exhibits a similar geographic distribution and is significantly correlated in frequency with CYP3A5*1/*3. Taken together, these results suggest that variants that influence salt homeostasis were the targets of a shared selective pressure that resulted from an environmental variable correlated with latitude.

Directed evolution of a monomeric, bright and photostable version of Clavularia cyan fluorescent protein: structural characterization and applications in fluorescence imaging

DOE Office of Scientific and Technical Information (OSTI.GOV)

Al, Hui-wang; Henderson, J. Nathan; Remington, S. James

The arsenal of engineered variants of the GFP [green FP (fluorescent protein)] from Aequorea jellyfish provides researchers with a powerful set of tools for use in biochemical and cell biology research. The recent discovery of diverse FPs in Anthozoa coral species has provided protein engineers with an abundance of alternative progenitor FPs from which improved variants that complement or supersede existing Aequorea GFP variants could be derived. Here, we report the engineering of the first monomeric version of the tetrameric CFP (cyan FP) cFP484 from Clavularia coral. Starting from a designed synthetic gene library with mammalian codon preferences, we identifiedmore » dimeric cFP484 variants with fluorescent brightness significantly greater than the wild-type protein. Following incorporation of dimer-breaking mutations and extensive directed evolution with selection for blue-shifted emission, high fluorescent brightness and photostability, we arrived at an optimized variant that we have named mTFP1 [monomeric TFP1 (teal FP 1)]. The new mTFP1 is one of the brightest and most photostable FPs reported to date. In addition, the fluorescence is insensitive to physiologically relevant pH changes and the fluorescence lifetime decay is best fitted as a single exponential. The 1.19 {angstrom} crystal structure (1 {angstrom}=0.1 nm) of mTFP1 confirms the monomeric structure and reveals an unusually distorted chromophore conformation. As we experimentally demonstrate, the high quantum yield of mTFP1 (0.85) makes it particularly suitable as a replacement for ECFP (enhanced CFP) or Cerulean as a FRET (fluorescence resonance energy transfer) donor to either a yellow or orange FP acceptor.« less

CYP3A Variation and the Evolution of Salt-Sensitivity Variants

PubMed Central

Thompson, E. E.; Kuttab-Boulos, H.; Witonsky, D.; Yang, L.; Roe, B. A.; Di Rienzo, A.

2004-01-01

Members of the cytochrome P450 3A subfamily catalyze the metabolism of endogenous substrates, environmental carcinogens, and clinically important exogenous compounds, such as prescription drugs and therapeutic agents. In particular, the CYP3A4 and CYP3A5 genes play an especially important role in pharmacogenetics, since they metabolize >50% of the drugs on the market. However, known genetic variants at these two loci are not sufficient to account for the observed phenotypic variability in drug response. We used a comparative genomics approach to identify conserved coding and noncoding regions at these genes and resequenced them in three ethnically diverse human populations. We show that remarkable interpopulation differences exist with regard to frequency spectrum and haplotype structure. The non-African samples are characterized by a marked excess of rare variants and the presence of a homogeneous group of long-range haplotypes at high frequency. The CYP3A5*1/*3 polymorphism, which is likely to influence salt and water retention and risk for salt-sensitive hypertension, was genotyped in >1,000 individuals from 52 worldwide population samples. The results reveal an unusual geographic pattern whereby the CYP3A5*3 frequency shows extreme variation across human populations and is significantly correlated with distance from the equator. Furthermore, we show that an unlinked variant, AGT M235T, previously implicated in hypertension and pre-eclampsia, exhibits a similar geographic distribution and is significantly correlated in frequency with CYP3A5*1/*3. Taken together, these results suggest that variants that influence salt homeostasis were the targets of a shared selective pressure that resulted from an environmental variable correlated with latitude. PMID:15492926

The scanning electron microscope as a tool in space biology

NASA Technical Reports Server (NTRS)

Barrett, R. A.

1983-01-01

Normal erythrocytes are disc-shaped and are referred to here descriptively as discocytes. Several morphologically variant forms occur nomally but in rather small amounts, usually less than one percent of total. It has been shown though, that spiculed variant forms referred to as echinocytes are generated in significant amounts at zero g. Normal red cells have been stressed in vitro in an effort to duplicate the observed discocyte-echinocyte transformation at zero g. The significance of this transformation to extended stay in space and some of the plausible reasons for this transformation are discussed.

Warthin-Like Papillary Thyroid Carcinoma Associated with Lymphadenopathy and Hashimoto's Thyroiditis.

PubMed

González-Colunga, Karla Judith; Loya-Solis, Abelardo; Ceceñas-Falcón, Luis Ángel; Barboza-Quintana, Oralia; Rodríguez-Gutiérrez, René

2015-01-01

Defining the histologic variant of thyroid carcinoma is an important clinical implication as their progression, recurrence, aggressiveness, and prognosis differ. Warthin-like variant is one of the rarest histologic variants of papillary thyroid cancer. A 36-year-old female sought consult for assessment of a painless right neck tumor. High-resolution neck ultrasound revealed a right hypoechoic, 1.71 × 1.05 cm thyroid nodule. Ultrasound-guided fine-needle aspiration biopsy report was a Bethesda grade III. Thyroid function tests showed Hashimoto's thyroiditis. The patient underwent right hemithyroidectomy. Microscopically, the tumor was composed of papillae lined by cells with eosinophilic cytoplasm, nuclear chromatin clearing, grooves, and pseudoinclusions and a characteristic lymphoplasmacytic infiltrate of the papillae cores. Extension into the perithyroidal soft tissue and 3 ipsilateral lymph nodes was found to be positive for cancer. Warthin-like variant is an uncommon and relatively unknown variant of papillary thyroid carcinoma that has been usually associated with an excellent prognosis. Interestingly, BRAF mutations have been reported to be present in up to 75% of the patients. It is frequently associated with Hashimoto's thyroiditis and presents unique morphological features that make it recognizable on histologic examination. The cytological diagnosis is difficult to assess due to the overlap in its findings with the classical variant and Hashimoto's thyroiditis.

Warthin-Like Papillary Thyroid Carcinoma Associated with Lymphadenopathy and Hashimoto's Thyroiditis

PubMed Central

González-Colunga, Karla Judith; Loya-Solis, Abelardo; Ceceñas-Falcón, Luis Ángel; Barboza-Quintana, Oralia; Rodríguez-Gutiérrez, René

2015-01-01

Defining the histologic variant of thyroid carcinoma is an important clinical implication as their progression, recurrence, aggressiveness, and prognosis differ. Warthin-like variant is one of the rarest histologic variants of papillary thyroid cancer. A 36-year-old female sought consult for assessment of a painless right neck tumor. High-resolution neck ultrasound revealed a right hypoechoic, 1.71 × 1.05 cm thyroid nodule. Ultrasound-guided fine-needle aspiration biopsy report was a Bethesda grade III. Thyroid function tests showed Hashimoto's thyroiditis. The patient underwent right hemithyroidectomy. Microscopically, the tumor was composed of papillae lined by cells with eosinophilic cytoplasm, nuclear chromatin clearing, grooves, and pseudoinclusions and a characteristic lymphoplasmacytic infiltrate of the papillae cores. Extension into the perithyroidal soft tissue and 3 ipsilateral lymph nodes was found to be positive for cancer. Warthin-like variant is an uncommon and relatively unknown variant of papillary thyroid carcinoma that has been usually associated with an excellent prognosis. Interestingly, BRAF mutations have been reported to be present in up to 75% of the patients. It is frequently associated with Hashimoto's thyroiditis and presents unique morphological features that make it recognizable on histologic examination. The cytological diagnosis is difficult to assess due to the overlap in its findings with the classical variant and Hashimoto's thyroiditis. PMID:25821606

Does sudden unexplained nocturnal death syndrome remain the autopsy negative disorder: a gross, microscopic, and molecular autopsy investigation in Southern China

PubMed Central

Zhang, Liyong; Tester, David J.; Lang, Di; Chen, Yili; Zheng, Jinxiang; Gao, Rui; Corliss, Robert F.; Tang, Shuangbo; Kyle, John W.; Liu, Chao; Ackerman, Michael J.; Makielski, Jonathan C.; Cheng, Jianding

2016-01-01

Objective To look for previously unrecognized cardiac structural abnormalities and address the genetic cause for sudden unexplained nocturnal death syndrome (SUNDS). Methods and Results 148 SUNDS victims and 444 controls (matched 1:3 on gender, race, and age of death within 1 year) were collected from Sun Yat-sen University from January 1, 1998 to December 31, 2014 to search morphological changes. Additional 17 Brugada syndrome (BrS) patients collected from January 1, 2006 to December 31, 2014 served as a comparative disease cohort. The Target Captured Next Generation sequencing for 80 genes associated with arrhythmia/cardiomyopathy were performed in 44 SUNDS victims and 17 BrS patients to characterize the molecular spectrum. SUNDS had slight but statistically significantly increased heart weight and valve circumference compared to controls. 12/44 SUNDS victims (SCN5A, SCN1B, CACNB2, CACNA1C, AKAP9, KCNQ1, KCNH2, KCNJ5, GATA4, NUP155, ABCC9) and 6/17 BrS patients (SCN5A, CACNA1C, P>.05) carried rare variants in primary arrhythmia-susceptibility genes. Only 2/44 SUNDS cases compared to 5/17 BrS patients hosted a rare variant in the most common BrS causing gene, SCN5A (P=.01). Using the strict American College of Medical Genetics guideline-based definition, only 2/44 (KCNQ1) SUNDS and 3/17 (SCN5A) BrS patients hosted a “(likely) pathogenic” variant. The 14/44 SUNDS cases with cardiomyopathy-related variants had a subtle but significantly decreased circumference of cardiac valves, and tended to die on average 5–6 years younger compared to the remaining 30 cases (P=.02). Conclusions We present the first comprehensive autopsy evidence that SUNDS victims may have concealed cardiac morphological changes. SUNDS and BrS may result from different molecular pathological underpinnings. The distinct association between cardiomyopathy-related rare variants and SUNDS warrants further investigation. PMID:27707468

Variant hairy cell leukemia following papillary urothelial neoplasm of bladder.

PubMed

Beyan, Cengiz; Kaptan, Kürsat

2014-03-01

A 65 years old man was admitted with multiple lymphadenopathy, weight loss, night sweats and fatigue for 2 months. He had been treated for bladder cancer 2 years ago. Leukocyte count was 37.9 x10(9)/l. Peripheral blood smear had 91% lymphocytes. Lymphocytes had large nuclei with prominent nucleoli, heterogeneous appearance, and large cytoplasm with hairy projections. Flow cytometric immunophenotyping revealed CD20, CD22, CD24, CD45 and HLA-DR positivity. Atypical lymphocytes were stained with tartrate resistant acid phosphatase. Increased metabolic activity was detected in multiple lymph nodes, bone marrow and extremely enlarged spleen with positron emission tomography-computed tomography. Excisional biopsy of the left axillary lymph node revealed infiltration with diffuse B-cell leukemia/lymphoma. Immunohistochemistry showed CD20 positive atypical cells with weak expression of CD11c. The patient was diagnosed as a case of variant hairy cell leukemia and cladribine was administered. A probable second primary malignancy should be kept in mind in cases with a defined malignancy in the presence of unusual symptoms.

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.

PubMed

De Palma, Armando; Morren, Marie-Anne; Ged, Cécile; Pouvelle, Caroline; Taïeb, Alain; Aoufouchi, Said; Sarasin, Alain

2017-09-01

We describe the characterization of Xeroderma Pigmentosum variant (XPV) in a young Caucasian patient with phototype I, who exhibited a high sensitivity to sunburn and multiple cutaneous tumors at the age of 15 years. Two novel mutations in the POLH gene, which encodes the translesion DNA polymerase η, with loss of function due to two independent exon skippings, are reported to be associated as a compound heterozygous state in the patient. Western blot analysis performed on proteins from dermal fibroblasts derived from the patient and analysis of the mutation spectrum on immunoglobulin genes produced during the somatic hypermutation process in his memory B cells, show the total absence of translesion polymerase η activity in the patient. The total lack of Polη activity, necessary to bypass in an error-free manner UVR-induced pyrimidine dimers following sun exposure, explains the early unusual clinical appearance of this patient. © 2017 Wiley Periodicals, Inc.

Coxsackievirus A24 Variant Associated with Acute Haemorrhagic Conjunctivitis Cases, French Guiana, 2017.

PubMed

Enfissi, Antoine; Joffret, Marie-Line; Delaune, Déborah; Delpeyroux, Francis; Rousset, Dominique; Bessaud, Maël

2018-06-13

In 2017, numerous cases of acute haemorrhagic conjunctivitis (AHC) were reported in the Caribbean and in South America. Preliminary reports identified adenoviruses and enteroviruses in some patient samples but, until now, none of the etiologic agents have been fully characterized. We report the full-length genomic sequences of 4 coxsackievirus A24 (CV-A24) isolates collected from AHC patients in French Guiana during this outbreak (May and June 2017). These isolates are very closely related and belong to the genotype IV of CV-A24 variant, which consists of strains sampled worldwide during AHC outbreaks in the 2000s and 2010s. No recombination events were detected within the genomic sequences, indicating that members of this genotype have continuously circulated worldwide for more than 10 years without undergoing recombination with other enteroviruses. This unusual trait could be due to their ocular tropism that could impede genetic exchanges between these viruses and other enteroviruses, which replicate mainly in the gut. © 2018 S. Karger AG, Basel.

Efficient in vitro encapsulation of protein cargo by an engineered protein container.

PubMed

Wörsdörfer, Bigna; Pianowski, Zbigniew; Hilvert, Donald

2012-01-18

An engineered variant of lumazine synthase, a nonviral capsid protein with a negatively charged luminal surface, is shown to encapsulate up to 100 positively supercharged green fluorescent protein (GFP) molecules in vitro. Packaging can be achieved starting either from intact, empty capsids or from capsid fragments by incubation with cargo in aqueous buffer. The yield of encapsulated GFP correlates directly with the host/guest mixing ratio, providing excellent control over packing density. Facile in vitro loading highlights the unusual structural dynamics of this novel nanocontainer and should facilitate diverse biotechnological and materials science applications. © 2011 American Chemical Society

Florid juvenile (cellular) fibroadenomatosis in the adolescent: a case for subcutaneous mastectomy?

PubMed

Silfen, R; Skoll, P J; Hudson, D A

1999-01-01

Juvenile or giant fibroadenoma (JF) is an uncommon fibroadenoma variant usually presenting in adolescence. Although these masses are benign, when multiple and bilateral, they present a complex challenge to the attending surgeon, both in diagnosis, and in selection of the most appropriate therapy. Treatment is usually surgical and ranges from simple excision to subcutaneous mastectomy with reconstruction. We report an unusual case of refractory JF, initially treated with combined hormonal and surgical treatment but ultimately requiring bilateral subcutaneous mastectomies to prevent tumor regrowth. This case highlights the occasional difficulty in the management of macromastia in the adolescent female.

Familial erythrokeratodermia variabilis with pustular lesions: a new variant?

PubMed

Zhang, Li; Huo, Wei; Gao, Xing-Hua; Ma, Lei; Xiu, Yuhong; Zheng, Song; Hong, Yuziao; Chen, Hong-Duo

2010-05-01

We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Five out of 30 patients noted episodes of pustule-like lesions during their disease course. Histological examination of the proband showed granular cell vacuolation and upper-epidermal neutrophil aggregates. Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected. These unusual presentations suggested a new phenotypic and genetic correlation in this Chinese pedigree of erythrokeratodermia variabilis.

A new DRB1*1202 allele (DRB1*12022) found in association with DQA1*0102 and DQB1*0602 in two Black narcoleptic subjects

DOE Office of Scientific and Technical Information (OSTI.GOV)

Behar, E.; Grumet, F.C.; Lin, X.

1995-01-01

DQB1*0602 is a better genetic marker than DR2 for narcolepsy susceptibility across all ethnic groups; for instance, only 75% of African American narcoleptics are DR2+ compared with 96% DQB1*0602+. We studied DRB1 genes of DR2- but DQB1*0602+ African American patients with cataplexy and observed two with an unusual DR12, DQA1*0102, DQB1*0602 haplotype; a new allelic variant of DRB1*1202 has been designated DRB*12022. 8 refs.

A natural variant of the cysteine protease virulence factor of group A Streptococcus with an arginine-glycine-aspartic acid (RGD) motif preferentially binds human integrins alphavbeta3 and alphaIIbbeta3.

PubMed

Stockbauer, K E; Magoun, L; Liu, M; Burns, E H; Gubba, S; Renish, S; Pan, X; Bodary, S C; Baker, E; Coburn, J; Leong, J M; Musser, J M

1999-01-05

The human pathogenic bacterium group A Streptococcus produces an extracellular cysteine protease [streptococcal pyrogenic exotoxin B (SpeB)] that is a critical virulence factor for invasive disease episodes. Sequence analysis of the speB gene from 200 group A Streptococcus isolates collected worldwide identified three main mature SpeB (mSpeB) variants. One of these variants (mSpeB2) contains an Arg-Gly-Asp (RGD) sequence, a tripeptide motif that is commonly recognized by integrin receptors. mSpeB2 is made by all isolates of the unusually virulent serotype M1 and several other geographically widespread clones that frequently cause invasive infections. Only the mSpeB2 variant bound to transfected cells expressing integrin alphavbeta3 (also known as the vitronectin receptor) or alphaIIbbeta3 (platelet glycoprotein IIb-IIIa), and binding was blocked by a mAb that recognizes the streptococcal protease RGD motif region. In addition, mSpeB2 bound purified platelet integrin alphaIIbbeta3. Defined beta3 mutants that are altered for fibrinogen binding were defective for SpeB binding. Synthetic peptides with the mSpeB2 RGD motif, but not the RSD sequence present in other mSpeB variants, blocked binding of mSpeB2 to transfected cells expressing alphavbeta3 and caused detachment of cultured human umbilical vein endothelial cells. The results (i) identify a Gram-positive virulence factor that directly binds integrins, (ii) identify naturally occurring variants of a documented Gram-positive virulence factor with biomedically relevant differences in their interactions with host cells, and (iii) add to the theme that subtle natural variation in microbial virulence factor structure alters the character of host-pathogen interactions.

A novel isoform of vertebrate ancient opsin in a smelt fish, Plecoglossus altivelis.

PubMed

Minamoto, Toshifumi; Shimizu, Isamu

2002-01-11

Vertebrate ancient (VA) opsin of nonvisual pigment in fishes was reported to exist in two isoforms, i.e., short and long variants with an unusual predicted amino acid sequence length compared to vertebrate visual opsins. Here we cloned an isoform (Pal-VAM) of VA opsin showing the usual opsin length in addition to the long type isoform (Pal-VAL) from a smelt fish, Plecoglossus altivelis. Pal-VAM and Pal-VAL were composed of 346 and 387 amino acids, respectively. The deduced amino acid sequences of these variants were identical to each other within the first 342 residues, but they showed divergence in the carboxyl-terminal sequence. Pal-VAL corresponded to the long isoform found in zebrafish and carp, and Pal-VAM was identified as a new type of VA opsin variant. Southern blotting experiments indicated that the VA opsin gene of the smelt is present as a single copy, and RT-PCR analysis revealed that Pal-VAM and Pal-VAL mRNA were expressed in both the eyes and brain. In situ hybridization showed that Pal-VAM and Pal-VAL mRNA are expressed in amacrine cells in the retina. Pal-VAM is a new probably functional nonvisual photoreceptive molecule in fish. (c)2002 Elsevier Science.

Genetic selection reveals the role of a buried, conserved polar residue

PubMed Central

Johnson, R. Jeremy; Lin, Shawn R.; Raines, Ronald T.

2007-01-01

The burial of nonpolar surface area is known to enhance markedly the conformational stability of proteins. The contribution from the burial of polar surface area is less clear. Here, we report on the tolerance to substitution of Ser75 of bovine pancreatic ribonuclease (RNase A), a residue that has the unusual attributes of being buried, conserved, and polar. To identify variants that retain biological function, we used a genetic selection based on the intrinsic cytotoxicity of ribonucleolytic activity. Cell growth at 30°C, 37°C, and 44°C correlated with residue size, indicating that the primary attribute of Ser75 is its small size. The side-chain hydroxyl group of Ser75 forms a hydrogen bond with a main-chain nitrogen. The conformational stability of the S75A variant, which lacks this hydrogen bond, was diminished by ΔΔG = 2.5 kcal/mol. Threonine, which can reinstate this hydrogen bond, provided a catalytically active RNase A variant at higher temperatures than did some smaller residues (including aspartate), indicating that a secondary attribute of Ser75 is the ability of its uncharged side chain to accept a hydrogen bond. These results provide insight on the imperatives for the conservation of a buried polar residue. PMID:17656580

The Impact of Gene-Environment Dependence and Misclassification in Genetic Association Studies Incorporating Gene-Environment Interactions

PubMed Central

Lindström, Sara; Yen, Yu-Chun; Spiegelman, Donna; Kraft, Peter

2009-01-01

The possibility of gene-environment interaction can be exploited to identify genetic variants associated with disease using a joint test of genetic main effect and gene-environment interaction. We consider how exposure misclassification and dependence between the true exposure E and the tested genetic variant G affect this joint test in absolute terms and relative to three other tests: the marginal test (G), the standard test for multiplicative gene-environment interaction (GE), and the case-only test for interaction (GE-CO). All tests can have inflated Type I error rate when E and G are correlated in the underlying population. For the GE and G-GE tests this inflation is only noticeable when the gene-environment dependence is unusually strong; the inflation can be large for the GE-CO test even for modest correlation. The joint G-GE test has greater power than the GE test generally, and greater power than the G test when there is no genetic main effect and the measurement error is small to moderate. The joint G-GE test is an attractive test for assessing genetic association when there is limited knowledge about casual mechanisms a priori, even in the presence of misclassification in environmental exposure measurement and correlation between exposure and genetic variants. PMID:19521099

Characterization of C-terminally engineered laccases.

PubMed

Liu, Yingli; Cusano, Angela Maria; Wallace, Erin C; Mekmouche, Yasmina; Ullah, Sana; Robert, Viviane; Tron, Thierry

2014-08-01

Extremities of proteins are potent sites for functionalization. Carboxy terminus variants of the Trametes sp. strain C30 LAC3 laccase were generated and produced in Saccharomyces cerevisiae. A variant deleted of the last 13 residues (CΔ) and its 6 His tagged counterpart (CΔ6H) were found active enzymes. The production of CΔ6H resulted in the synthesis of a unusually high proportion of highly glycosylated forms of the enzyme therefore allowing the additional purification of a hyper-glycosylated form of CΔ6H noted CΔ6Hh. Properties of CΔ, CΔ6H and CΔ6Hh were compared. Globally, LAC3 catalytic efficiency was moderately affected by terminal modifications except in CΔ for which the kcat/KM ratio decreased 4 fold (with syringaldazine as substrate) and 10 fold (with ABTS as substrate) respectively. The catalytic parameters kcat and KM of CΔ6H and CΔ6Hh were found to be strictly comparable revealing that over glycosylation does not affect the enzyme catalytic efficiency. To the contrary, in vitro deglycosylation of laccase drastically reduced its activity. So, despite a complex glycosylated pattern observed for some of the variant enzymes, terminal sequences of laccases appear to be appropriate sites for the functionalization/immobilization of laccase. Copyright © 2014 Elsevier B.V. All rights reserved.

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

PubMed Central

Snozek, Christine LH; Lagerstedt, Susan A; Khoo, Teck K; Rubenfire, Melvyn; Isley, William L; Train, Laura J; Baudhuin, Linnea M

2009-01-01

Familial hypercholesterolemia (FH) is the most common form of autosomal-dominant hypercholesterolemia, and is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is characterized by elevated low-density lipoprotein (LDL) cholesterol and early-onset cardiovascular disease, whereas homozygous FH results in more severe LDL cholesterol elevation with death by 20 years of age. We present here the case of an African-American female FH patient presenting with a myocardial infarction at the age of 48, recurrent angina pectoris and numerous coronary artery stents. Her pretreated LDL cholesterol levels were more typical of a homozygous FH pattern and she was resistant to conventional lipid-lowering treatment, yet her other clinical parameters were not necessarily consistent with homozygous FH. Genetic testing revealed two LDLR variants on the same chromosome: one a novel missense mutation in exon 14 (Cys681Gly) and the other a promoter variant (IVS1-217C>T) previously shown to result in increased LDLR transcription. Disease-associated PCSK9 or APOB mutations were not identified in this individual. Overall, her genetic and clinical profile suggests that enhanced expression of the mutant LDLR allele resulted in a severe phenotype with characteristics of both heterozygous and homozygous FH. PMID:18648394

Morphological and clinical aspects of the occurrence of accessory (multiple) renal arteries

PubMed Central

Gulas, Ewelina; Wysiadecki, Grzegorz; Szymański, Jacek; Majos, Agata; Stefańczyk, Ludomir; Topol, Mirosław

2016-01-01

Renal vascularization variants vastly differ between individuals due to the very complex embryogenesis of the kidneys. Moreover, each variant may have implications for clinical and surgical interventions. The number of operating procedures continues to grow, and includes renal transplants, aneurysmorrhaphy and other vascular reconstructions. In any surgical technique, unawareness of the presence of multiple renal arteries may result in a fatal outcome, especially if laparoscopic methods are used. The aim of this review is to comprehensively identify the variation within multiple renal arteries and to highlight the connections between the presence of accessory renal arteries and the coexistence of other variants of vascularization. Another aim is to determine the potential clinical implications of the presence of accessory renal arteries. This study is of particular importance for surgeons, intervention radiologists, nephrologists and vascular surgeons. PMID:29593819

Self-accommodation of B19' martensite in Ti-Ni shape memory alloys - Part II. Characteristic interface structures between habit plane variants

NASA Astrophysics Data System (ADS)

Nishida, M.; Okunishi, E.; Nishiura, T.; Kawano, H.; Inamura, T.; S., Ii; Hara, T.

2012-06-01

Four characteristic interface microstructures between habit plane variants (HPVs) in the self-accommodation morphologies of B19‧ martensite in Ti-Ni alloys have been investigated by scanning transmission electron microscopy (STEM). The straight interface of a ? B19‧ type I twin is present at interface I. The relaxation of the transformation strain at interface II is achieved by a volume reduction of the minor correspondence variants (CVs) in the relevant habit plane variants (HPVs). The relaxation of the transformation strain at interface III is mainly due to the formation of a ? B19‧ type I twin between the two major CVs. Subsequently, local strain around the tips of the minor CVs perpendicular to the interface is released by the formation of micro-twins with the ⟨011⟩B19‧ type II and/or ? B19‧ type I relation. The major and minor CVs in each HPV are alternately connected through fine variants with the ? B19‧ type I twin relation parallel to interface IV. The results are compared with macroscopic observations and the predictions of PTMC analysis.

Molecular phylogeny and larval morphological diversity of the lanternfish genus Hygophum (Teleostei: Myctophidae).

PubMed

Yamaguchi, M; Miya, M; Okiyama, M; Nishida, M

2000-04-01

Larvae of the deep-sea lanternfish genus Hygophum (Myctophidae) exhibit a remarkable morphological diversity that is quite unexpected, considering their homogeneous adult morphology. In an attempt to elucidate the evolutionary patterns of such larval morphological diversity, nucleotide sequences of a portion of the mitochondrially encoded 16S ribosomal RNA gene were determined for seven Hygophum species and three outgroup taxa. Secondary structure-based alignment resulted in a character matrix consisting of 1172 bp of unambiguously aligned sequences, which were subjected to phylogenetic analyses using maximum-parsimony, maximum-likelihood, and neighbor-joining methods. The resultant tree topologies from the three methods were congruent, with most nodes, including that of the genus Hygophum, being strongly supported by various tree statistics. The most parsimonious reconstruction of the three previously recognized, distinct larval morphs onto the molecular phylogeny revealed that one of the morphs had originated as the common ancestor of the genus, the other two having diversified separately in two subsequent major clades. The patterns of such diversification are discussed in terms of the unusual larval eye morphology and geographic distribution. Copyright 2000 Academic Press.

Omomyid primates (Tarsiiformes) from the Early Middle Eocene at South Pass, Greater Green River Basin, Wyoming.

PubMed

Muldoon, Kathleen M; Gunnell, Gregg F

2002-10-01

Recent fieldwork in the Gardnerbuttean (earliest Bridgerian) sediments along the northeastern edge of the Green River Basin at South Pass, Wyoming, has yielded a large and diverse sample of omomyid (tarsiiform) primates. This assemblage includes two species each of Artimonius gen. nov., Washakius, and Omomys, one species of Anaptomorphus, Trogolemur and Uintanius, and a new, primitive species of the rare omomyine genus,Utahia. Utahia is known elsewhere only from its type locality in the Uinta Basin and its phylogenetic position is poorly understood. Utahia carina sp. nov. allows for re-evaluation of the affinities of this genus relative to other omomyines. In most characters, such as a lesser degree of molar trigonid compression, more widely open talonid notches, and a lack of molar talonid crenulation, the new species is more primitive than U. kayi. The dental anatomy of U. carina also indicates that Utahia is morphologically intermediate between washakiins and omomyins, although the balance of anatomical features places Utahia as the sister taxon to a broadly defined "Ourayini" clade. Morphological similarity between U. carina, Loveina zephyri, and primitive Washakius suggests that while the omomyin and washakiin clades may have diverged by the middle Wasatchian, substantial morphological distinctions are first evidenced only in the early Bridgerian. This may be due either to a lack of appropriate faunal samples from older sediments, or, more likely, because ecological circumstances in the early Bridgerian favored omomyine diversification and subsequent replacement of previously occurring taxa. This hypothesis is further supported by the stratigraphic co-occurrence of U. carina, W. izetti, and a primitive variant of W. insignis at South Pass, a marginal area. Basin margins have been hypothesized to provide heterogeneous habitats conducive to the production of evolutionary innovation. Basin margin samples have also been cited as evidence that anaptomorphines were relegated to upland refugia as omomyine taxa began to appear in the later part of the early Eocene. Another possible explanation for the unusual co-occurrence of species at South Pass relates to fluctuating lake levels in the Green River Basin, which intermittently would have made lowland environments inhospitable for arboreal fauna. This would have created a situation whereby species which would normally be allopatric become sympatric at South Pass.

Common acute lymphoblastic leukaemia-lymphoma expressing cytokeratin: a case report.

PubMed

Menestrina, F; Lestani, M; Scarpa, A; Viale, G; Bonetti, F; Pizzolo, G; Chilosi, M

1994-01-01

This report presents a case of common acute lymphoblastic leukaemia-lymphoma expressing low molecular weight cytokeratin but no leukocyte common antigen (CD45) in a 57-year-old man. The unusual morphology and clinical course together with the aberrant immunohistochemical results suggested a diagnosis of undifferentiated carcinoma. A detailed immunohistochemistry study on frozen and paraffin sections and molecular analysis prevented a diagnostic mistake.

Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia.

PubMed

Vivanti, Alexandre J; Cordier, Anne-Gael; Baujat, Geneviève; Benachi, Alexandra

2016-12-05

Pregnancies of women displaying achondroplasia are at high risk of adverse events. Early sonographic assessment of affected women can indicate an unusually long cervical length. It is the consequence of pathological anatomy of the pelvis. Thus, there is a foreseeable dystocia owing to cephalopelvic disproportion. Furthermore, this situation could also complicate cervical ripening prior to fetal extraction.

Osteoid producing primary lesion at morphologic and biologic interface.

PubMed

Sarkar, Reena Radhikaprasad

2015-01-01

Fibroosseous gnathic lesions comprise a wide spectrum of diseases. Many of the entities have overlapping features. A pediatric case is encountered with a complex clinicopathologic profile. Although radiographically the lesion appears benign but on histopathological examination it possesses features of osteoid producing aggressive neoplasm. This paper highlights the unusual histologic features existing within the spectrum of fibroosseous lesions and discusses relevant clinicopathologic correlations.

Dens invaginatus in primary maxillary molar: a rare case report and review of literature.

PubMed

Bansal, Arpana V; Bansal, Abhinav; Kulkarni, Vinaya Kumar; Dhar, Reema Sharma

2012-05-01

Dens invaginatus is a rare developmental anomaly. It is unusual to find this anomaly in primary dentition. Diagnosis of this dens invaginatus is important due to possible pulpal involvement. Not only that, simultaneous presence of other dental anomaly may require long-term treatment planning. Dens invaginatus can be detected clinically in the tooth presenting unusual crown morphology or radiographically as radiopacity within tooth. This article describes one of the first case reports of dens invaginatus in primary maxillary second molar in a 5-year-old female patient. How to cite this article: Bansal AV, Bansal A, Kulkarni VK, Dhar RS. Dens Invaginatus in Primary Maxillary Molar: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2012;5(2):139-141.

Lesões vesiculares e prurido intenso em paciente com sífilis secundária:manifestação clínica atípica.

PubMed

Duarte Bezerra Pinto, Roberta; Rubim Bellott Batista Nascimento, Thiago; Pacheco Bicalho de Andrade, Jhéssica; Policarpo, Fernanda; Ribeiro Estrella, Rogério; Guedes Vilar, Enoi

2016-06-15

Syphilis is an infectious disease with mucocutaneous lesions that are characteristic of their stage (primary, secondary, or tertiary). These are not always typical and may have other morphologies and unusual symptoms, making diagnosis difficult. The report herein is of a healthy woman with vesicular lesions associated with intense itching.  The diagnosis of secondary syphilis was confirmed with VDRL 1/512 and FTA Abs positive.  Histopathology showed spongiosis in the epidermis and infiltrated lymphocytes and plasma cell in the dermis.  Clinical improvement occurred after the first dose of benzathine penicillin. In the literature, few cases of vesicular lesions in syphilis have been found and itching is mentioned as uncharacteristic . Histology showing spongiosis is also unusual.

[Death caused by projectile guns--a retrospective analysis of 34 cases in Berlin and Hamburg].

PubMed

Lignitz, E; Koops, E; Püschel, K

1988-01-01

The autopsy material of the institutes for forensic medicine in Berlin/GDR and Hamburg was analyzed retrospectively (period from 1961 till 1987; 70,000 autopsies) for fatalities caused by "humane killers" (n = 22) and stud guns (n = 12).-Epidemiological, criminological and morphological findings: The decreased were all men aged between 18 and 75 years (mean 48 years) except one 61 year-old paraplegic women who was killed by her husband with a humane killer. The great majority of cases consisted of suicides; two accidents at work were caused by stud guns. These unusual weapons are normally used by skilled people (i.e. butchers or constructional workers respectively). The fatal wounds were situated at the head, especially the forehead, seldom at the nape of the neck or in the mouth, or sometimes in the chest when using stud guns. Combined suicides (especially together with hanging) are not unusual. Survival periods (with or without acting capacity) can range between minutes or even months (after neurosurgical intervention).-The frequency of such unusual and overall rare cases did not raise during the investigation period.

The Polycystic Ovary Morphology-Polycystic Ovary Syndrome Spectrum.

PubMed

Rosenfield, Robert L

2015-12-01

Polycystic ovary syndrome (PCOS) is the most common cause of chronic hyperandrogenic anovulation. Two-thirds of PCOS patients have functionally typical PCOS, with typical functional ovarian hyperandrogenism manifest as 17-hydroxyprogesterone hyper-responsiveness to gonadotropin stimulation. Most, but not all, of the remainder have atypical functional ovarian hyperandrogenism. Many asymptomatic volunteers with polycystic ovary morphology (PCOM) have similar abnormalities. The objective of this paper is to review the relationship of biochemical ovarian function to the clinical spectrum observed in PCOS and in normal volunteers with PCOM. Adolescents and adults with PCOS are similar clinically and biochemically. Ninety-five percent of functionally typical PCOS have classic PCOS, ie, hyperandrogenic anovulation with PCOM. In addition to having more severe hyperandrogenism and a greater prevalence of PCOM than other PCOS, they have a significantly greater prevalence of glucose intolerance although insulin resistance is similarly reduced. Half of normal-variant PCOM have PCOS-related steroidogenic dysfunction, which suggests a PCOS carrier state. There is a spectrum of ovarian androgenic dysfunction that ranges from subclinical hyperandrogenemia in some normal-variant PCOM to severe ovarian hyperandrogenism in most classic PCOS. A minority of mild PCOS cases do not fall on this spectrum of ovarian androgenic dysfunction, but rather seem to have obesity as the basis of their hyperandrogenism, or, less often, isolated adrenal androgenic dysfunction. Half of normal-variant PCOM also do not fall on the PCOS spectrum, and some of these seem to have excessive folliculogenesis as a variant that may confer mild prolongation of the reproductive lifespan. Improved understanding of PCOM in young women is needed. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Warthin Tumor-Like Mucoepidermoid Carcinoma.

PubMed

Heatley, Nicholas; Harrington, Kevin J; Thway, Khin

2018-02-01

Mucoepidermoid carcinoma (MEC) shows a wide morphologic spectrum, including epithelium with oncocytic or squamous metaplastic changes overlying a prominent cystic architecture, as well as tumor-associated lymphoid tissue. We illustrate a case of MEC of the parotid in a 17-year-old female, in which all these features occurred extensively, such that they accounted for almost the entire neoplasm, and closely mimicked Warthin tumor histologically. This highlights the need for diagnostic awareness of this particular morphologic variant of MEC, as patients could potentially be inappropriately discharged from follow-up if diagnosed with a benign neoplasm.

Biomimetic synthesis of struvite with biogenic morphology and implication for pathological biomineralization

NASA Astrophysics Data System (ADS)

Li, Han; Yao, Qi-Zhi; Wang, Yu-Ying; Li, Yi-Liang; Zhou, Gen-Tao

2015-01-01

Recent studies have found that certain urinary proteins can efficiently inhibit stone formation. These discoveries are significant for developing effective therapies for stone disease, but the inhibition mechanism of crystallization remains elusive. In the present study, polyaspartic acid (PASP) was employed as a model peptide to investigate the effect of urinary proteins on the crystallization and morphological evolution of struvite. The results demonstrate that selective adsorption/binding of PASP onto the {010} and {101} faces of struvite crystals results in arrowhead-shaped morphology, which further evolves into X-shaped and unusual tabular structures with time. Noticeably, these morphologies are reminiscent of biogenic struvite morphology. Concentration-dependent experiments show that PASP can inhibit struvite growth and the inhibitory capacity increases with increasing PASP concentration, whereas aspartic acid monomers do not show a significant effect. Considering that PASP is a structural and functional analogue of the subdomains of aspartic acid-rich proteins, our results reveal that aspartic acid-rich proteins play a key role in regulating biogenic struvite morphology, and aspartic acid residues contribute to the inhibitory capacity of urinary proteins. The potential implications of PASP for developing therapeutic agents for urinary stone disease is also discussed.

The effect of miniaturized body size on skeletal morphology in frogs.

PubMed

Yeh, Jennifer

2002-03-01

Miniaturization has evolved numerous times and reached impressive extremes in the Anura. I compared the skeletons of miniature frog species to those of closely related larger species to assess patterns of morphological change, sampling 129 species from 12 families. Two types of morphological data were examined: (1) qualitative data on bone presence and absence; and (2) thin-plate spline morphometric descriptions of skull structure and bone shape. Phylogenetic comparative methods were used to address the shared history of species. Miniature anurans were more likely to lose skull bones and phalangeal elements of the limbs. Their skulls also showed consistent differences compared to those of their larger relatives, including relatively larger braincases and sensory capsules, verticalization of lateral elements, rostral displacement of the jaw joint, and reduction of some skull elements. These features are explained by functional constraints and by paedomorphosis. Variation among lineages in the morphological response to miniaturization was also explored. Certain lineages appear to be unusually resistant to the morphological trends that characterize miniature frogs as a whole. This study represents the first large-scale examination of morphology and miniaturization across a major, diverse group of organisms conducted in a phylogenetic framework and with statistical rigor.

Biomimetic synthesis of struvite with biogenic morphology and implication for pathological biomineralization.

PubMed

Li, Han; Yao, Qi-Zhi; Wang, Yu-Ying; Li, Yi-Liang; Zhou, Gen-Tao

2015-01-16

Recent studies have found that certain urinary proteins can efficiently inhibit stone formation. These discoveries are significant for developing effective therapies for stone disease, but the inhibition mechanism of crystallization remains elusive. In the present study, polyaspartic acid (PASP) was employed as a model peptide to investigate the effect of urinary proteins on the crystallization and morphological evolution of struvite. The results demonstrate that selective adsorption/binding of PASP onto the {010} and {101} faces of struvite crystals results in arrowhead-shaped morphology, which further evolves into X-shaped and unusual tabular structures with time. Noticeably, these morphologies are reminiscent of biogenic struvite morphology. Concentration-dependent experiments show that PASP can inhibit struvite growth and the inhibitory capacity increases with increasing PASP concentration, whereas aspartic acid monomers do not show a significant effect. Considering that PASP is a structural and functional analogue of the subdomains of aspartic acid-rich proteins, our results reveal that aspartic acid-rich proteins play a key role in regulating biogenic struvite morphology, and aspartic acid residues contribute to the inhibitory capacity of urinary proteins. The potential implications of PASP for developing therapeutic agents for urinary stone disease is also discussed.

Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.

PubMed

Nance, D; Campbell, R A; Rowley, J W; Downie, J M; Jorde, L B; Kahr, W H; Mereby, S A; Tolley, N D; Zimmerman, G A; Weyrich, A S; Rondina, M T

2016-11-01

Essentials Co-existent damaging variants are likely to cause more severe bleeding and may go undiagnosed. We determined pathogenic variants in a three-generational pedigree with excessive bleeding. Bleeding occurred with concurrent variants in prostaglandin synthase-1 (PTGS-1) and factor VIII. The PTGS-1 variant was associated with functional defects in the arachidonic acid pathway. Background Inherited human variants that concurrently cause disorders of primary hemostasis and coagulation are uncommon. Nevertheless, rare cases of co-existent damaging variants are likely to cause more severe bleeding and may go undiagnosed. Objective We prospectively sought to determine pathogenic variants in a three-generational pedigree with excessive bleeding. Patients/methods Platelet number, size and light transmission aggregometry to multiple agonists were evaluated in pedigree members. Transmission electron microscopy determined platelet morphology and granule content. Thromboxane release studies and light transmission aggregometry in the presence or absence of prostaglandin G 2 assessed specific functional defects in the arachidonic acid pathway. Whole exome sequencing (WES) and targeted nucleotide sequence analysis identified potentially deleterious variants. Results Pedigree members with excessive bleeding had impaired platelet aggregation with arachidonic acid, epinephrine and low-dose ADP, as well as reduced platelet thromboxane B 2 release. Impaired platelet aggregation in response to 2MesADP was rescued with prostaglandin G 2 , a prostaglandin intermediate downstream of prostaglandin synthase-1 (PTGS-1) that aids in the production of thromboxane. WES identified a non-synonymous variant in the signal peptide of PTGS-1 (rs3842787; c.50C>T; p.Pro17Leu) that completely co-segregated with disease phenotype. A variant in the F8 gene causing hemophilia A (rs28935203; c.5096A>T; p.Y1699F) was also identified. Individuals with both variants had more severe bleeding manifestations than characteristic of mild hemophilia A alone. Conclusion We provide the first report of co-existing variants in both F8 and PTGS-1 genes in a three-generation pedigree. The PTGS-1 variant was associated with specific functional defects in the arachidonic acid pathway and more severe hemorrhage. © 2016 International Society on Thrombosis and Haemostasis.

An unusual case of uterine cotyledonoid dissecting leiomyoma with adenomyosis.

PubMed

Shimizu, Ai; Tanaka, Hoshihito; Iwasaki, Sari; Wakui, Yukio; Ikeda, Hitoshi; Suzuki, Akira

2016-08-04

Cotyledonoid dissecting leiomyoma is a rare variant of uterine smooth muscle tumor with an unusual growth pattern that shows intramural dissection within uterine myometrium and often a placenta-like appearance in its extrauterine components. We present a unique case of cotyledonoid dissecting leiomyoma with adenomyosis. A 40-year-old Japanese female presented with prolonged menorrhagia and severe anemia. She had a pelvic mass followed-up for 6 years with a diagnosis of leiomyoma. However, increase in tumor size and cystic changes with hemorrhage were found by magnetic resonance imaging, and total abdominal hysterectomy with bilateral salpingectomy was performed. Macroscopically, the placenta-like exophytic mass protruding from the posterior uterine wall was composed of multiple nodules containing numerous hemorrhagic cysts. The mass showed continuity as a white multinodular dissecting mass infiltrating the posterolateral myometrium. Microscopically, both extra-and intrauterine portions of the mass were composed of nodules that contained swirled neoplastic smooth muscle cells with marked hyalinized degeneration, as observed in cotyledonoid dissecting leiomyomas of conventional type. In addition, numerous non-neoplastic glands of endometrial type surrounded by abundant endometrium-like stromal cells and non-neoplastic smooth muscle cells were found in the tumor, suggesting that it involved a part of concomitant adenomyosis originating from the nontumoral myometrium. Thus far, over 30 cases of cotyledonoid dissecting leiomyoma have been reported, none of which have described the presence of adenomyosis within the tumor. The present case suggested that cotyledonoid dissecting leiomyoma might have a unique clinical presentation involving concomitant uterine adenomyosis. It is critical for pathologists, gynecologists, and radiologists to be cognizant of cotyledonoid dissecting leiomyoma variants for timely and appropriate diagnosis and treatment.

An Unusual Splice Defect in the Mitofusin 2 Gene (MFN2) Is Associated with Degenerative Axonopathy in Tyrolean Grey Cattle

PubMed Central

Drögemüller, Cord; Reichart, Ursula; Seuberlich, Torsten; Oevermann, Anna; Baumgartner, Martin; Kühni Boghenbor, Kathrin; Stoffel, Michael H.; Syring, Claudia; Meylan, Mireille; Müller, Simone; Müller, Mathias; Gredler, Birgit

2011-01-01

Tyrolean Grey cattle represent a local breed with a population size of ∼5000 registered cows. In 2003, a previously unknown neurological disorder was recognized in Tyrolean Grey cattle. The clinical signs of the disorder are similar to those of bovine progressive degenerative myeloencephalopathy (weaver syndrome) in Brown Swiss cattle but occur much earlier in life. The neuropathological investigation of an affected calf showed axonal degeneration in the central nervous system (CNS) and femoral nerve. The pedigrees of the affected calves suggested a monogenic autosomal recessive inheritance. We localized the responsible mutation to a 1.9 Mb interval on chromosome 16 by genome-wide association and haplotype mapping. The MFN2 gene located in this interval encodes mitofusin 2, a mitochondrial membrane protein. A heritable human axonal neuropathy, Charcot-Marie-Tooth disease-2A2 (CMT2A2), is caused by MFN2 mutations. Therefore, we considered MFN2 a positional and functional candidate gene and performed mutation analysis in affected and control Tyrolean Grey cattle. We did not find any non-synonymous variants. However, we identified a perfectly associated silent SNP in the coding region of exon 20 of the MFN2 gene. This SNP is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the preceding intron. This splicing defect represents a potential explanation for the observed degenerative axonopathy. Marker assisted selection can now be used to eliminate degenerative axonopathy from Tyrolean Grey cattle. PMID:21526202

An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.

PubMed

Drögemüller, Cord; Reichart, Ursula; Seuberlich, Torsten; Oevermann, Anna; Baumgartner, Martin; Kühni Boghenbor, Kathrin; Stoffel, Michael H; Syring, Claudia; Meylan, Mireille; Müller, Simone; Müller, Mathias; Gredler, Birgit; Sölkner, Johann; Leeb, Tosso

2011-04-15

Tyrolean Grey cattle represent a local breed with a population size of ∼5000 registered cows. In 2003, a previously unknown neurological disorder was recognized in Tyrolean Grey cattle. The clinical signs of the disorder are similar to those of bovine progressive degenerative myeloencephalopathy (weaver syndrome) in Brown Swiss cattle but occur much earlier in life. The neuropathological investigation of an affected calf showed axonal degeneration in the central nervous system (CNS) and femoral nerve. The pedigrees of the affected calves suggested a monogenic autosomal recessive inheritance. We localized the responsible mutation to a 1.9 Mb interval on chromosome 16 by genome-wide association and haplotype mapping. The MFN2 gene located in this interval encodes mitofusin 2, a mitochondrial membrane protein. A heritable human axonal neuropathy, Charcot-Marie-Tooth disease-2A2 (CMT2A2), is caused by MFN2 mutations. Therefore, we considered MFN2 a positional and functional candidate gene and performed mutation analysis in affected and control Tyrolean Grey cattle. We did not find any non-synonymous variants. However, we identified a perfectly associated silent SNP in the coding region of exon 20 of the MFN2 gene. This SNP is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the preceding intron. This splicing defect represents a potential explanation for the observed degenerative axonopathy. Marker assisted selection can now be used to eliminate degenerative axonopathy from Tyrolean Grey cattle.

Mixed cortical adenoma and composite pheochromocytoma-ganglioneuroma: an unusual corticomedullary tumor of the adrenal gland.

PubMed

Lau, Sean K; Chu, Peiguo G; Weiss, Lawrence M

2011-06-01

Adrenal neoplasms composed of more than one cell type and demonstrating a mixed histologic appearance are exceedingly rare. We report the clinical and pathologic features of a morphologically distinctive tumor of the adrenal gland composed of cortical, chromaffin, and neural cells. Histologically, the tumor consisted of intermixed areas of proliferating cortical cells resembling adrenal cortical adenoma, neoplastic chromaffin cells consistent with pheochromocytoma, and a ganglioneuromatous stroma. The presence of the cortical, medullary, and neural components within the tumor was confirmed by immunohistochemical studies. The present case serves to broaden the morphologic spectrum of mixed tumors that may be encountered in the adrenal gland. Copyright © 2011 Elsevier Inc. All rights reserved.

Endodontic treatment of a maxillary central incisor with two roots.

PubMed

Maghsoudlou, Amir; Jafarzadeh, Hamid; Forghani, Maryam

2013-03-01

This clinical report presents a rare case of maxillary central incisor with two separate roots. Unusual morphology of the roots and root canals may exist in any tooth. Recognition of the dental anatomy and its variations is necessary for successful endodontic therapy. It is well known that maxillary incisors are usually single-rooted teeth. The root canals were instrumented with conventional hand files and Gates Glidden and obturated by using the lateral technique. Recall radiograph after 1 year shows the healing process of the preoperative apical periodontitis. Clinicians should be aware of unexpected root canal morphology when performing root canal therapy. The present case demonstrated the importance of accurate preoperative radiograph and adequate access preparation.

Incadendron : a new genus of Euphorbiaceae tribe Hippomaneae from the sub-Andean cordilleras of Ecuador and Peru

PubMed Central

Wurdack, Kenneth J.; Farfan-Rios, William

2017-01-01

Abstract Incadendron esseri K.Wurdack & Farfan, gen. & sp. nov., from the wet sub-Andean cordilleras of Ecuador (Cordillera del Cóndor) and Peru (Cusco, Oxapampa) is described and illustrated. This recently discovered large canopy tree with a narrow elevational range presents an unusual combination of rare morphological characters in Hippomaneae including mucilage-secreting sheathing stipules, conduplicate ptyxis, and large, woody fruits. The broader significance of these characters in Hippomaneae is discussed. The morphology and anatomy of Incadendron were investigated, highlighting its fruit similarities with Guiana Shield endemic Senefelderopsis, and the systematics value of ptyxis variation, which remains poorly studied for the family. PMID:29033661

Kinetically-controlled template-free synthesis of hollow silica micro-/nanostructures with unusual morphologies

NASA Astrophysics Data System (ADS)

Zhang, An-Qi; Li, Hui-Jun; Qian, Dong-Jin; Chen, Meng

2014-04-01

We report a kinetically-controlled template-free room-temperature production of hollow silica materials with various novel morphologies, including tubes, crutches, ribbons, bundles and bells. The obtained products, which grew in a well-controlled manner, were monodispersed in shape and size. The role of ammonia, sodium citrate, polyvinylpyrrolidone, chloroauric acid and NaCl in shape control is discussed in detail. The oriented growth of these micro-/nanostructures directed by reverse micelles followed a solution-solution-solid (SSS) mechanism, similar to the classic vapor-liquid-solid mechanism. The evolution processes of silica rods, tubes, crutches, bundles and bells were recorded using transmission electron microscopy to prove the SSS mechanism.

Morphology-Dependent Hardness of Cr7C3-Ni-Rich Alloy Composite vs Orientation Independent Hardness of Cr7C3 Primary Phase in a Laser Clad Microstructure

NASA Astrophysics Data System (ADS)

Venkatesh, Lakshmi Narayanan; Suresh Babu, Pitchuka; Gundakaram, Ravi Chandra; Doherty, Roger D.; Joshi, Shrikant V.; Samajdar, Indradev

2017-04-01

Microstructural evolution with superheating was studied in chromium carbide-nickel coatings deposited by laser cladding. At lower superheating, selective growth of <0001> direction from the high density of Cr7C3 grains nucleated resulted in a columnar structure with (0001) texture. Increased superheating lead to the loss of columnar structure as well as the (0001) texture. The hexagonal Cr7C3 showed an unusual isotropic nanoindentation hardness evidently correlated with its low c/ a ratio. However, the rod-like morphology of the carbide dendrites resulted in significant anisotropy in the hardness of the composite.

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

PubMed Central

Almutawa, Fahad; Thusaringam, Thusanth; Watters, Kevin; Gayden, Tenzin; Jabado, Nada; Sasseville, Denis

2015-01-01

Background Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Case A 49-year-old male presented with diffuse and striate palmoplantar keratoderma, thickened nails, knuckle pads, and pseudoainhum. Histology showed compact hyperkeratosis, prominent irregular acanthosis, and extensive epidermolytic hyperkeratosis, suggestive of Vörner's palmoplantar keratoderma. However, keratin 9 and 1 were not mutated, and full exome sequencing showed heterozygous missense mutation in type I keratin K16. Conclusion To our knowledge, epidermolytic hyperkeratosis has not been previously described with PC. Our patient had an excellent response, maintained over the last 5 years, to a low dose of acitretin. We wish to emphasize the crucial role of whole exome sequencing in establishing the correct diagnosis. PMID:26464567

Warthin tumor with signet-ring cell features as a pitfall in salivary gland cytopathology.

PubMed

Bellevicine, Claudio; Iaccarino, Antonino; Malapelle, Umberto; Troncone, Giancarlo

2013-01-01

Warthin tumor (WT) is a common parotid lesion reliably diagnosed by fine-needle aspiration (FNA). Worrisome metaplastic changes may occur in WT. Their interpretation as mucoepidermoid carcinoma represents a diagnostic pitfall. Moreover, WT and mucoepidermoid carcinoma may coexist, making this distinction difficult. So it is worthwhile to report unusual WT features. We describe a WT with signet-ring cells (SRCs). A 61-year-old male presenting with a 3.6-cm right parotid gland mass underwent FNA with rapid on-site evaluation. DiffQuik-stained smears showed groups of oncocytic cells with abundant granular cytoplasm in a background rich with debris, foamy macrophages and lymphoid cells. SRCs were observed on Papanicolaou-stained smears prepared from a second pass. A WT with SRC features was diagnosed. Histology revealed a WT with post-FNA infarctual changes. To avoid false-positive diagnoses, the cytopathologist should be aware that SRC features may occur in WT. The concomitant presence of oncocytes and SRCs is useful to correctly diagnose this unusual WT variant. Copyright © 2013 S. Karger AG, Basel.

Is schizoaffective disorder a distinct categorical diagnosis? A critical review of the literature

PubMed Central

Abrams, Daniel J; Rojas, Donald C; Arciniegas, David B

2008-01-01

Considerable debate surrounds the inclusion of schizoaffective disorder in psychiatric nosology. Schizoaffective disorder may be a variant of schizophrenia in which mood symptoms are unusually prominent but not unusual in type. This condition may instead reflect a severe form of either major depressive or bipolar disorder in which episode-related psychotic symptoms fail to remit completely between mood episodes. Alternatively, schizoaffective disorder may reflect the co-occurrence of two relatively common psychiatric illnesses, schizophrenia and a mood disorder (major depressive or bipolar disorder). Each of these formulations of schizoaffective disorder presents nosological challenges because the signs and symptoms of this condition cross conventional categorical diagnostic boundaries between psychotic disorders and mood disorders. The study, evaluation, and treatment of persons presently diagnosed with schizoaffective may be more usefully informed by a dimensional approach. It is in this context that this article reviews and contrasts the categorical and dimensional approaches to its description, neurobiology, and treatment. Based on this review, an argument for the study and treatment of this condition using a dimensional approach is offered. PMID:19337453

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.

PubMed

Imran, Syed Ali; Aldahmani, Khaled A; Penney, Lynette; Croul, Sidney E; Clarke, David B; Collier, David M; Iacovazzo, Donato; Korbonits, Márta

2018-01-01

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein ( AIP ) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.Unusual, previously not described AIP variant with loss of the stop codon.Phenocopy may occur in families with a disease-causing germline mutation.

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

PubMed Central

Aldahmani, Khaled A; Penney, Lynette; Croul, Sidney E; Clarke, David B; Collier, David M; Iacovazzo, Donato; Korbonits, Márta

2018-01-01

Summary Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points: Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions. Unusual, previously not described AIP variant with loss of the stop codon. Phenocopy may occur in families with a disease-causing germline mutation. PMID:29472986

Biosynthesis of the tunicamycin antibiotics proceeds via unique exo-glycal intermediates

NASA Astrophysics Data System (ADS)

Wyszynski, Filip J.; Lee, Seung Seo; Yabe, Tomoaki; Wang, Hua; Gomez-Escribano, Juan Pablo; Bibb, Mervyn J.; Lee, Soo Jae; Davies, Gideon J.; Davis, Benjamin G.

2012-07-01

The tunicamycins are archetypal nucleoside antibiotics targeting bacterial peptidoglycan biosynthesis and eukaryotic protein N-glycosylation. Understanding the biosynthesis of their unusual carbon framework may lead to variants with improved selectivity. Here, we demonstrate in vitro recapitulation of key sugar-manipulating enzymes from this pathway. TunA is found to exhibit unusual regioselectivity in the reduction of a key α,β-unsaturated ketone. The product of this reaction is shown to be the preferred substrate for TunF—an epimerase that converts the glucose derivative to a galactose. In Streptomyces strains in which another gene (tunB) is deleted, the biosynthesis is shown to stall at this exo-glycal product. These investigations confirm the combined TunA/F activity and delineate the ordering of events in the metabolic pathway. This is the first time these surprising exo-glycal intermediates have been seen in biology. They suggest that construction of the aminodialdose core of tunicamycin exploits their enol ether motif in a mode of C-C bond formation not previously observed in nature, to create an 11-carbon chain.

A live, attenuated pseudorabies virus strain JS-2012 deleted for gE/gI protects against both classical and emerging strains.

PubMed

Tong, Wu; Li, Guoxin; Liang, Chao; Liu, Fei; Tian, Qing; Cao, Yanyun; Li, Lin; Zheng, Xuchen; Zheng, Hao; Tong, Guangzhi

2016-06-01

Emerging pseudorabies virus (PRV) variant have led to pseudorabies outbreaks in Chinese pig farms. The commercially available PRV vaccine provides poor protection against the PRV variant. In this study, a gE/gI deleted PRV strain JS-2012-△gE/gI was generated from a PRV variant strain using homologous DNA recombination. Compared to the parental strain JS-2012, JS-2012-△gE/gI grew slowly and showed small plaque morphology on Vero cells. The safety and immunological efficacy of JS-2012-△gE/gI was evaluated as a vaccine candidate. JS-2012-△gE/gI was avirulent to suckling piglets, but was able to provide full protection for young piglets against challenge with both the classical virulent PRV and the emerging PRV variant. After sows were vaccinated with the gE/gI-deleted strain, their suckling offspring were resistant to an otherwise lethal challenge with the classical and the variant PRVs. Piglets inoculated with JS-2012-△gE/gI did not develop PRV-specific gE-ELISA antibodies. Thus, JS-2012-△gE/gI appears to be a promising marker vaccine candidate to control PRV variant circulating in pig farms in China. Copyright © 2016 Elsevier B.V. All rights reserved.

The male bulbospongiosus muscle and its relation to the external anal sphincter.

PubMed

Peikert, Kevin; Platzek, Ivan; Bessède, Thomas; May, Christian Albrecht

2015-04-01

The bulbospongiosus muscle is part of the superficial muscular layer of the perineum and pelvic floor. Its morphology remains controversial in the literature. Therefore, we reinvestigated the fascial arrangement and fiber courses of the bulbospongiosus muscle and its topographical relation to the external anal sphincter. The perineum was dissected in 9 male cadavers (mean ± SD age 78.3 ± 10.7 years). Select samples were obtained for histology and immunohistochemistry. In 43 patients (mean age 60.7 ± 12 years) the topographical relation between the bulbospongiosus muscle and the external anal sphincter was determined by magnetic resonance imaging. The perineum contains several fascial layers consisting of elastic and collagen fibers as well as bundles of smooth muscle cells. The bulbospongiosus muscle was subdivided into a ventral and dorsal portion, which developed in 4 variants. The ventral insertion formed a morphological unity with the ischiocavernous muscle while the dorsal origin had a variable relation to the external anal sphincter (5 variants). A muscle-like or connective tissue-like connection was frequently present between the muscles. However, in some cases the muscles were completely separated. We suggest a concept of variations of bulbospongiosus muscle morphology that unifies the conflicting literature. Its ventral fiber group and the ischiocavernosus muscle form a functional and morphological unity. While the bulbospongiosus muscle and the external anal sphincter remain independent muscles, their frequent connection might have clinical implications for perineal surgery and anogenital disorders. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

A case of hairy cell leukemia variant.

PubMed

Găman, Amelia Maria; Dobrea, Camelia Marioara; Găman, Mihnea Alexandru

2015-01-01

Hairy cell leukemia variant (HCLv) is a rare B-cell chronic lymphoproliferative disorder with features of the classic HCL but presenting some particularities, a poor response to conventional therapy of classic HCL and a more aggressive course of disease with shorter survival than classic HCL. We present a case of a 52-year-old man hospitalized in July 2012 in the Clinic of Hematology of Craiova, Romania, having splenomegaly, leukocytosis with lymphocytosis, anemia and thrombocytopenia, without monocytopenia, which exposed, in the peripheral blood and bone marrow cells, intermediate morphology between hairy cells and prolymphocytes and immunophenotype of mature B-cell phenotype CD19, CD20, CD22, CD11c, CD103, low positive for CD25 and negative for CD3, diagnosed with HCL variant, with no response to conventional chemotherapy and interferon-alpha, an aggressive course of disease and a survival of less than a year from diagnosis.

Dandy Walker Variant and Bipolar I Disorder with Graphomania

PubMed Central

Karakaş Uğurlu, Görkem; Çakmak, Selcen

2014-01-01

Cerebellum is known to play an important role in coordination and motor functions. In some resent studies it is also considered to be involved in modulation of mood, cognition and psychiatric disorders. Dandy Walker Malformation is a congenital malformation that is characterized by hypoplasia or aplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. When the volume of posterior fossa is normal, the malformation is called Dandy Walker Variant. Case is a 32 year old male with a 12 year history of Bipolar I Disorder presented with manic and depresive symptoms, including dysphoric and depressive affect, anhedonia, suicidal thoughts and behaviours, thoughts of fear about future, overtalkativeness and graphomania, increased energy, irregular sleep, loss of appetite, increased immersion in projects, irritability, agressive behavior, impulsivity. Cranial Magnetic Resonance Imaging was compatible to the morphological features of Dandy Walker Variant. PMID:25110509

Spindle Epithelial Tumor with Thymus-Like Differentiation (SETTLE): A Next-Generation Sequencing Study.

PubMed

Stevens, Todd M; Morlote, Diana; Swensen, Jeff; Ellis, Michelle; Harada, Shuko; Spencer, Sharon; Prieto-Granada, Carlos N; Folpe, Andrew L; Gatalica, Zoran

2018-05-07

Spindle epithelial tumor with thymus-like differentiation (SETTLE) is a malignant biphasic neoplasm of the thyroid or neck with propensity for late metastasis. Unlike synovial sarcoma, its main morphologic mimic, SETTLE lacks synovial sarcoma-associated translocations. A single case of SETTLE has shown a KRAS mutation but to date no comprehensive next generation sequencing studies of this rare neoplasm have been undertaken. Herein, we subjected 5 well defined cases of SETTLE to direct sequence analysis of 592 genes and fusion gene analysis of 52 genes frequently rearranged in human cancers. We identified one case with two pathogenic variants in the KMT2D gene, one being in an intron splice site (c.674-1A>G) and the other being a frameshift variant (p.M2829fs). This same case also had a pathogenic nonsense variant in the KMT2C gene (p.R1237*). A second case of SETTLE carried a pathogenic NRAS missense variant, Q61R. No other molecular alterations, microsatellite instability, gene fusions or amplifications were identified.

Complex Morphological Variability in Complex Evaporitic Systems: Thermal Spring Snails from the Chihuahuan Desert, Mexico

NASA Astrophysics Data System (ADS)

Tang, Carol M.; Roopnarine, Peter D.

2003-11-01

Thermal springs in evaporitic environments provide a unique biological laboratory in which to study natural selection and evolutionary diversification. These isolated systems may be an analogue for conditions in early Earth or Mars history. One modern example of such a system can be found in the Chihuahuan Desert of north-central Mexico. The Cuatro Cienegas basin hosts a series of thermal springs that form a complex of aquatic ecosystems under a range of environmental conditions. Using landmark-based morphometric techniques, we have quantified an unusually high level of morphological variability in the endemic gastropod Mexipyrgus from Cuatro Cienegas. The differentiation is seen both within and between hydrological systems. Our results suggest that this type of environmental system is capable of producing and maintaining a high level of morphological diversity on small spatial scales, and thus should be a target for future astrobiological research.

Asymmetry in mesial root number and morphology in mandibular second molars: a case report

PubMed Central

Shetty, Shashit; Shekhar, Rhitu

2014-01-01

Ambiguity in the root morphology of the mandibular second molars is quite common. The most common root canal configuration is 2 roots and 3 canals, nonetheless other possibilities may still exist. The presence of accessory roots is an interesting example of anatomic root variation. While the presence of radix entomolaris or radix paramolaris is regarded as a typical clinical finding of a three-rooted mandibular second permanent molar, the occurrence of an additional mesial root is rather uncommon and represents a possibility of deviation from the regular norms. This case report describes successful endodontic management of a three-rooted mandibular second molar presenting with an unusual accessory mesial root, which was identified with the aid of multiangled radiographs and cone-beam computed tomography imaging. This article also discusses the prevalence, etiology, morphological variations, clinical approach to diagnosis, and significance of supernumerary roots in contemporary clinical dentistry. PMID:24516829

Cerebral morphology and functional sparing after prenatal frontal cortex lesions in rats.

PubMed

Kolb, B; Cioe, J; Muirhead, D

1998-03-01

Rats were given suction lesions of the presumptive frontal cortex on embryonic day 18 (E18) and subsequently tested, as adults, on tests of spatial navigation (Morris water task, radial arm maze), motor tasks (Whishaw reaching task, beam walking), and locomotor activity. Frontal cortical lesions at E18 affected cerebral morphogenesis, producing unusual morphological structures including abnormal patches of neurons in the cortex and white matter as well as neuronal bridges between the hemispheres. A small sample of E18 operates also had hydrocephaly. The animals with E18 lesions without hydrocephalus were behaviorally indistinguishable from littermate controls. The results demonstrate that animals with focal lesions of the presumptive frontal cortex have gross abnormalities in cerebral morphology but the lesions leave the functions normally subserved by the frontal cortex in adult rats unaffected. The results are discussed in the context of a hypothesis regarding the optimal times for functional recovery from cortical injury.

Interaction of L-alanyl-L-valine and L-valyl-L-alanine with organic vapors: thermal stability of clathrates, sorption capacity and the change in the morphology of dipeptide films.

PubMed

Ziganshin, Marat A; Gubina, Nadezhda S; Gerasimov, Alexander V; Gorbatchuk, Valery V; Ziganshina, Sufia A; Chuklanov, Anton P; Bukharaev, Anastas A

2015-08-21

The strong effect of the amino acid sequence in L-alanyl-L-valine and L-valyl-L-alanine on their sorption properties toward organic compounds and water, and the thermal stability of the inclusion compounds of these dipeptides have been found. Generally, L-valyl-L-alanine has a greater sorption capacity for the studied compounds, but the thermal stability of the L-alanyl-L-valine clathrates is higher. Unusual selectivity of L-valyl-L-alanine for vapors of few chloroalkanes was observed. The correlation between the change in the surface morphology of thin film of dipeptides and stoichiometry of their clathrates with organic compounds was found. This discovery may be used to predict the influence of vapors on the morphology of films of short-chain oligopeptides.

Moon - 'Ghost' craters formed during Mare filling.

NASA Technical Reports Server (NTRS)

Cruikshank, D. P.; Hartmann, W. K.; Wood, C. A.

1973-01-01

This paper discusses formation of 'pathological' cases of crater morphology due to interaction of craters with molten lavas. Terrestrial observations of such a process are discussed. In lunar maria, a number of small impact craters (D less than 10 km) may have been covered by thin layers of fluid lavas, or formed in molten lava. Some specific lunar examples are discussed, including unusual shallow rings resembling experimental craters deformed by isostatic filling.

Analysis of the Central X-ray Source in DG Tau

NASA Astrophysics Data System (ADS)

Schneider, P. Christian; Schmitt, Jürgen H. M. M.

As a stellar X-ray source DG Tau shows two rather unusual features: A resolved X-ray jet [2] and an X-ray spectrum best described by two thermal components with different absorbing column densities, a so called "two-absorber X-ray (TAX)" morphology [1, 2]. In an effort to understand the properties of the central X-ray source in DG Tau a detailed position analysis was carried out.

Hepatocellular carcinoma with both fibrolamellar and classical components: an unusual morphological pattern.

PubMed

Castro-Villabón, Diana; Barrera-Herrera, Luis E; Rodríguez-Urrego, Paula A; Hudacko, Rachel; Vera, Alonso; Álvarez, Johanna; Andrade, Rafael; López, Rocío

2015-01-01

Fibrolamellar carcinoma (FLC) is an uncommon form of primary liver malignancy with unique clinical, histological, and biological characteristics. It is usually seen in young adults without underlying liver disease. Histologically, it shows large cells with abundant eosinophilic cytoplasm, large vesicular nuclei, prominent nucleoli, and lamellar type fibrosis. In contrast, classical hepatocellular carcinoma (HCC) is typically present in elderly male patients with cirrhosis. It is the most common histological subtype, and it is characterized by its resemblance to the normal liver, both in its growth pattern and its cytology. The unusual case of a liver carcinoma that presented with histological features of both FLC and classical HCC is herein reported. This was the case of a 37-year-old female complaining of diffuse abdominal discomfort and epigastric pain for two months. She was referred to us for further management after she was diagnosed with HCC in a noncirrhotic liver. She underwent a left-sided hepatectomy. A yellow nodular mass with well-defined borders and a necrotic center was present in the resection specimen. The morphological features and immunohistochemical studies were consistent with a diagnosis of FLC mixed with classical HCC. The patient was followed up for five months, and no signs of recurrence were evident.

LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype.

PubMed

Minaidou, Anna; Nicolaou, Paschalis; Christodoulou, Kyproula

2018-10-01

Deleterious variants in LRSAM1, a RING finger ubiquitin ligase which is also known as TSG101-associated ligase (TAL), have recently been associated with Charcot-Marie-Tooth disease type 2P (CMT2P). The mechanism by which mutant LRSAM1 contributes to the development of neuropathy is currently unclear. The aim of this study was to induce LRSAM1 deficiency in a neuronal cell model, observe its effect on cell growth and morphology and attempt to rescue the phenotype with ancestral and mutant LRSAM1 transfections. In this experimental study, we investigated the effect of LRSAM1 downregulation on neuroblastoma SH-SY5Y cells by siRNA technology where cells were transfected with siRNA against LRSAM1. The effects on the expression levels of TSG101, the only currently known LRSAM1 interacting molecule, were also examined. An equal dosage of ancestral or mutant LRSAM1 construct was transfected in LRSAM1-downregulated cells to investigate its effect on the phenotype of the cells and whether cell proliferation and morphology could be rescued. A significant reduction in TSG101 levels was observed with the downregulation of LRSAM1. In addition, LRSAM1 knockdown significantly decreased the growth rate of SH-SY5Y cells which is caused by a decrease in cell proliferation. An effect on cell morphology was also observed. Furthermore, we overexpressed the ancestral and the c.2047-1G>A mutant LRSAM1 in knocked down cells. Ancestral LRSAM1 recovered cell proliferation and partly the morphology, however, the c.2047-1G>A mutant did not recover cell proliferation and further aggravated the observed changes in cell morphology. Our findings suggest that depletion of LRSAM1 affects neuroblastoma cells growth and morphology and that overexpression of the c.2047-1G>A mutant form, unlike the ancestral LRSAM1, fails to rescue the phenotype. Copyright© by Royan Institute. All rights reserved.

Genetic and evolutionary analysis of the Drosophila larval neuromuscular junction

NASA Astrophysics Data System (ADS)

Campbell, Megan

Although evolution of brains and behaviors is of fundamental biological importance, we lack comprehensive understanding of the general principles governing these processes or the specific mechanisms and molecules through which the evolutionary changes are effected. Because synapses are the basic structural and functional units of nervous systems, one way to address these problems is to dissect the genetic and molecular pathways responsible for morphological evolution of a defined synapse. I have undertaken such an analysis by examining morphology of the larval neuromuscular junction (NMJ) in wild caught D. melanogaster as well as in over 20 other species of Drosophila. Whereas variation in NMJ morphology within a species is limited, I discovered a surprisingly extensive variation among different species. Compared with evolution of other morphological traits, NMJ morphology appears to be evolving very rapidly. Moreover, my data indicate that natural selection rather than genetic drift is primarily responsible for evolution of NMJ morphology. To dissect underlying molecular mechanisms that may govern NMJ growth and evolutionary divergence, I focused on a naturally occurring variant in D. melanogaster that causes NMJ overgrowth. I discovered that the variant mapped to Mob2, a gene encoding a kinase adapter protein originally described in yeast as a member of the Mitotic Exit Network (MEN). I have subsequently examined mutations in the Drosophila orthologs of all the core components of the yeast MEN and found that all of them function as part of a common pathway that acts presynaptically to negatively regulate NMJ growth. As in the regulation of yeast cytokinesis, these components of the MEN appear to act ultimately by regulating actin dynamics during the process of bouton growth and division. These studies have thus led to the discovery of an entirely new role for the MEN---regulation of synaptic growth---that is separate from its function in cell division. This work has identified a rich source of material for discovery of novel genes and mechanisms that regulate synaptic growth and development, and has also provided new insights into the mechanisms that underlie morphological evolution of nervous systems.

68Ga-DOTATATE uptake in pineal gland, a rare physiological variant: case series.

PubMed

Riaz, Saima; Syed, Rizwan; Skoura, Evangelia; Alshammari, Alshaima; Gaze, Mark; Sajjan, Rakesh; Halsey, Richard; Bomanji, Jamshed

2015-11-01

(68)Ga-DOTATATE PET-CT is widely used for the evaluation of neuroendocrine tumours. Knowledge of the physiological distribution of the radiotracer is of critical importance in characterizing focal areas of uptake. In this case series, we report three paediatric cases (average age 4.7 years ± 0.6 SD) with diagnosed advanced stage IV Neuroblastoma. Two had (68)Ga-DOTATATE PET-CT scans and one underwent (68)Ga-DOTATATE PET-MRI scan to assess for suitability of molecular therapy. Focal increased tracer uptake in the pineal gland was noted in all cases with no morphological abnormality on the corresponding CT and MRI scans. The uptake within the gland was thought to be a physiological variant rather than metastases owing to the heterogeneity of somatostatin receptors expression. The pineal gland has been reported to express somatostatin receptors. The physiological distribution of (68)Ga-DOTATATE uptake in the pineal gland is not routinely seen. Furthermore, the possibility of pineal meningioma is very unlikely as pineal meningiomas are very rare and there was no convincing morphological evidence of meningiomas on CT/MRI scan.

Genetic Modifiers of Sickle Cell Disease

PubMed Central

Steinberg, Martin H.; Sebastiani, Paola

2015-01-01

Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident ∝ thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new “druggable” pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease. PMID:22641398

Craniofacial Duplication: A Case Report

PubMed Central

Suryawanshi, Pradeep; Deshpande, Mandar; Verma, Nitin; Mahendrakar, Vivek; Mahendrakar, Sandhya

2013-01-01

A craniofacial duplication or diprosopus is an unusual variant of conjoined twinning. The reported incidence is one in 180,000-15 million births and 35 cases have been reported till date. The phenotype is wide, with the partial duplication of a few facial structures to complete dicephalus. A complete duplication is associated with a high incidence of anomalies in the central nervous system, cardiovascular system, gastrointestinal system and the respiratory system, whereas no major anomalies are found in the infants with a partial duplication. A term baby with the features of a craniofacial duplication has been described, with the proposed theories on embryogenesis and a brief review of the literature. PMID:24179933

Craniofacial duplication: a case report.

PubMed

Suryawanshi, Pradeep; Deshpande, Mandar; Verma, Nitin; Mahendrakar, Vivek; Mahendrakar, Sandhya

2013-09-01

A craniofacial duplication or diprosopus is an unusual variant of conjoined twinning. The reported incidence is one in 180,000-15 million births and 35 cases have been reported till date. The phenotype is wide, with the partial duplication of a few facial structures to complete dicephalus. A complete duplication is associated with a high incidence of anomalies in the central nervous system, cardiovascular system, gastrointestinal system and the respiratory system, whereas no major anomalies are found in the infants with a partial duplication. A term baby with the features of a craniofacial duplication has been described, with the proposed theories on embryogenesis and a brief review of the literature.

Destructive discovertebral degenerative disease of the lumbar spine.

PubMed

Charran, A K; Tony, G; Lalam, R; Tyrrell, P N M; Tins, B; Singh, J; Eisenstein, S M; Balain, B; Trivedi, J M; Cassar-Pullicino, V N

2012-09-01

The uncommon variant of degenerative hip joint disease, termed rapidly progressive osteoarthritis, and highlighted by severe joint space loss and osteochondral disintegration, is well established. We present a similar unusual subset in the lumbar spine termed destructive discovertebral degenerative disease (DDDD) with radiological features of vertebral malalignment, severe disc resorption, and "bone sand" formation secondary to vertebral fragmentation. Co-existing metabolic bone disease is likely to promote the development of DDDD of the lumbar spine, which presents with back pain and sciatica due to nerve root compression by the "bone sand" in the epidural space. MRI and CT play a complimentary role in making the diagnosis.

Anomalous vertebral artery origins: the first and second reports of two variants.

PubMed

Hsu, Daniel P; Alexander, Ashley D; Gilkeson, Robert C

2010-06-01

We present two cases of aberrant origins of vertebral arteries. Case 1 is of a patient undergoing evaluation of an infrarenal aortic aneurysm stent graft. Computed tomography (CT) angiogram revealed an aberrant right vertebral artery that subsequently joined a second right vertebral artery that had the typical origin off the right subclavian artery. This represents an unusual anatomic variation not previously reported in the literature. Case 2 is of a patient being evaluated for thoracic aorta injury. CT angiogram of the chest revealed a five-vessel aortic arch with aberrant origin of the bilateral vertebral arteries distal to the left subclavian artery.

Large focal nodular hyperplasia and extrahepatic portosystemic shunt in a male patient: multi-modality imaging features.

PubMed

Kitzing, Yu Xuan; Gallagher, James; Waugh, Richard

2011-10-01

Congenital extrahepatic portocaval shunt is a rare condition that is described mostly in female patients. We report an unusual case of a young adult male patient with type 1 congenital extrahepatic portocaval shunt with associated development of a focal nodular hyperplasia on a background of regenerative nodules. With multi-slice CT utilisation, there is increased detection of portocaval malformation in asymptomatic patients. This congenital variant is clinically significant with associated development of hepatocellular lesions, hepatic dysfunction and/or encephalopathy. © 2011 The Authors. Journal of Medical Imaging and Radiation Oncology © 2011 The Royal Australian and New Zealand College of Radiologists.

Early therapy-related myeloid sarcoma and deletion of 9q22.32 to q31.1.

PubMed

Brickler, Molly M; Basel, Donald G; Gheorghe, Gabriela; Margolis, David M; Kelly, Michael E; Ehrhardt, Matthew J

2014-09-01

Survival following childhood neuroblastoma is improving with low rates of secondary myeloid neoplasms. We describe a 13-month-old male with intermediate risk neuroblastoma who developed an isolated scalp therapy-related myeloid sarcoma (t-MS). Developmental delays and two distinct malignancies prompted constitutional evaluation. Chromosomal microarray identified a 7.3 Mb deletion of 9q22.32 to 9q31.1. He remains in remission 11 months following hematopoietic cell transplant. Unusual presentations of rare diseases necessitate a multidisciplinary approach and adaptation of standardized protocols to accommodate increased risks imposed by genetic variants. © 2014 Wiley Periodicals, Inc.

Poland syndrome: description of an atypical variant.

PubMed

Ferraro, G A; Perrotta, A; Rossano, F; D'Andrea, F

2005-01-01

Poland syndrome comprises a unilateral absence of the large pectoral muscle, ipsilateral symbrachydactyly, and occasionally other malformations of the anterior chest wall and breast. The condition is more frequent among males, and usually occurs on the right hemithorax in the unilateral form. The syndrome is believed to be caused by a genetic disorder that reduces the embryonal circulation in the interior chest artery: the stronger the interaction, the more severe the pathology. This article analyzes an unusual pathologic case in which the 17-year-old patient lacked the large pectoral muscle on the left side, but showed no arterial alteration. This case raises questions as to the true pathogenesis of this syndrome.

Telangiectatic osteosarcoma of the rib: a rare entity and a potential diagnostic pitfall.

PubMed

Saguem, I; Ayadi, L; Kallel, R; Charfi, S; Bahri, I; Gouiaa, N; Sellami-Boudawara, T

2016-12-01

Osteosarcoma (OS) is a common primary malignant tumor of bones that produces osteoid matrix. Telangiectatic osteosarcoma (TOS) is a rare variant of OS. It affects the long bones especially the lower end of femur and the upper ends of tibia and humerus, a distribution similar to the conventional osteosarcoma. The rib involvement is very infrequent. We present a case of TOS of the rib that posed a diagnostic difficulty owing to its unusual location and to its resemblance to giant cell tumor and aneurysmal bone cyst. Correspondence. © Copyright Società Italiana di Anatomia Patologica e Citopatologia Diagnostica, Divisione Italiana della International Academy of Pathology.

Uncommon presentations of tinea versicolor

PubMed Central

Varada, Sowmya; Dabade, Tushar; Loo, Daniel S.

2014-01-01

Tinea versicolor (TV) is a common cutaneous fungal infection characterized by superficial scaling and a mild disturbance of skin pigmentation. It typically affects the chest, upper back, and shoulders. However, involvement of more unusual regions of the body such as the face and scalp, arms and legs, intertriginous sites, genitalia, areolae, and palms and soles has been reported. This report details two such cases observed at our institution: a 32-year-old woman with involvement of the popliteal fossa and a 16-year-old boy with involvement of the groin. The clinician must be aware of these variations in location and perform the appropriate diagnostic workup when lesions have the characteristic morphology of TV despite an unusual location. The etiology, pathophysiology, and epidemiology of TV are reviewed and current literature describing other instances of TV in uncommon locations is discussed. PMID:25126470

Phenotypic, histological and proteomic analyses reveal multiple differences associated with chloroplast development in yellow and variegated variants from Camellia sinensis

PubMed Central

Ma, Chengying; Cao, Junxi; Li, Jianke; Zhou, Bo; Tang, Jinchi; Miao, Aiqing

2016-01-01

Leaf colour variation is observed in several plants. We obtained two types of branches with yellow and variegated leaves from Camellia sinensis. To reveal the mechanisms that underlie the leaf colour variations, combined morphological, histological, ionomic and proteomic analyses were performed using leaves from abnormal branches (variants) and normal branches (CKs). The measurement of the CIE-Lab coordinates showed that the brightness and yellowness of the variants were more intense than the CKs. When chloroplast profiles were analysed, HY1 (branch with yellow leaves) and HY2 (branch with variegated leaves) displayed abnormal chloroplast structures and a reduced number and size compared with the CKs, indicating that the abnormal chloroplast development might be tightly linked to the leaf colour variations. Moreover, the concentration of elemental minerals was different between the variants and the CKs. Furthermore, DEPs (differentially expressed proteins) were identified in the variants and the CKs by a quantitative proteomics analysis using the label-free approach. The DEPs were significantly involved in photosynthesis and included PSI, PSII, cytochrome b6/f complex, photosynthetic electron transport, LHC and F-type ATPase. Our results suggested that a decrease in the abundance of photosynthetic proteins might be associated with the changes of leaf colours in tea plants. PMID:27633059

EMMPRIN (CD147) Expression in Smooth Muscle Tumors of the Uterus.

PubMed

Kefeli, Mehmet; Yildiz, Levent; Gun, Seda; Ozen, Fatma Z; Karagoz, Filiz

2016-01-01

Smooth muscle tumors of the uterus are the most common mesenchymal tumors of the gynecologic tract. The vast majority of these are benign leiomyomas that present no diagnostic difficulty. Because some benign smooth muscle tumors may degenerate and uncommon variants exist, the diagnosis can be challenging in some cases. The goal of this research was to investigate EMMPRIN expression in leiomyomas, leiomyoma variants, and leiomyosarcomas (LMS) to determine whether it has a potential role in differential diagnosis. EMMPRIN expression was investigated with immunohistochemistry in 103 uterine smooth muscle tumors, which included 19 usual leiomyomas, 52 leiomyoma variants, and 32 LMS. They were evaluated on the basis of staining extent, intensity, and also their combined score, and the groups were compared. EMMPRIN expression was present in 3 of 19 (15.7%) usual leiomyomas, 23 of 52 (44.3%) leiomyoma variants, and 28 of 32 (87.5%) LMS. There were statistically significant differences in staining extent and intensity, and also for their combined scores, between the LMS and benign groups. Although uterine smooth muscle tumors are usually diagnosed easily with conventional diagnostic criteria, the differentiation of LMS from some variants of leiomyoma can be challenging based soley on morphology. EMMPRIN may be a valuable immunohistochemical marker for differentiating LMS from benign smooth muscle tumors in problematic cases.

Functionally Equivalent Variants in a Non-standard Variety and Their Implications for Universal Grammar: A Spontaneous Speech Corpus.

PubMed

Leivada, Evelina; Papadopoulou, Elena; Pavlou, Natalia

2017-01-01

Findings from the field of experimental linguistics have shown that a native speaker may judge a variant that is part of her grammar as unacceptable, but still use it productively in spontaneous speech. The process of eliciting acceptability judgments from speakers of non-standard languages is sometimes clouded by factors akin to prescriptive notions of grammatical correctness. It has been argued that standardization enhances the ability to make clear-cut judgments, while non-standardization may result to grammatical hybridity, often manifested in the form of functionally equivalent variants in the repertoire of a single speaker. Recognizing the importance of working with corpora of spontaneous speech, this work investigates patterns of variation in the spontaneous production of five neurotypical, adult speakers of a non-standard variety in terms of three variants, each targeting one level of linguistic analysis: syntax, morphology, and phonology. The results reveal the existence of functionally equivalent variants across speakers and levels of analysis. We first discuss these findings in relation to the notions of competing, mixed, and fused grammars, and then we flesh out the implications that different values of the same variant carry for parametric approaches to Universal Grammar. We observe that intraspeaker realizations of different values of the same variant within the same syntactic environment are incompatible with the 'triggering-a-single-value' approach of parametric models, but we argue that they are compatible with the concept of Universal Grammar itself. Since the analysis of these variants is ultimately a way of investigating the status of Universal Grammar primitives, we conclude that claims about the alleged unfalsifiability of (the contents of) Universal Grammar are unfounded.

Functionally Equivalent Variants in a Non-standard Variety and Their Implications for Universal Grammar: A Spontaneous Speech Corpus

PubMed Central

Leivada, Evelina; Papadopoulou, Elena; Pavlou, Natalia

2017-01-01

Findings from the field of experimental linguistics have shown that a native speaker may judge a variant that is part of her grammar as unacceptable, but still use it productively in spontaneous speech. The process of eliciting acceptability judgments from speakers of non-standard languages is sometimes clouded by factors akin to prescriptive notions of grammatical correctness. It has been argued that standardization enhances the ability to make clear-cut judgments, while non-standardization may result to grammatical hybridity, often manifested in the form of functionally equivalent variants in the repertoire of a single speaker. Recognizing the importance of working with corpora of spontaneous speech, this work investigates patterns of variation in the spontaneous production of five neurotypical, adult speakers of a non-standard variety in terms of three variants, each targeting one level of linguistic analysis: syntax, morphology, and phonology. The results reveal the existence of functionally equivalent variants across speakers and levels of analysis. We first discuss these findings in relation to the notions of competing, mixed, and fused grammars, and then we flesh out the implications that different values of the same variant carry for parametric approaches to Universal Grammar. We observe that intraspeaker realizations of different values of the same variant within the same syntactic environment are incompatible with the ‘triggering-a-single-value’ approach of parametric models, but we argue that they are compatible with the concept of Universal Grammar itself. Since the analysis of these variants is ultimately a way of investigating the status of Universal Grammar primitives, we conclude that claims about the alleged unfalsifiability of (the contents of) Universal Grammar are unfounded. PMID:28790953

Morphological evolution of Bi2Se3 nanocrystalline materials synthesized by microwave assisted solvothermal method

NASA Astrophysics Data System (ADS)

Bera, Sumit; Behera, P.; Mishra, A. K.; Krishnan, M.; Patidar, M. M.; Singh, D.; Gangrade, M.; Venkatesh, R.; Deshpande, U. P.; Phase, D. M.; Ganesan, V.

2018-04-01

Structural, morphological and spectroscopic properties of Bi2Se3 nanoparticles synthesized by microwave assisted solvothermal method were investigated systematically. A controlled synthesis of different morphologies by a small variation in synthesis procedure is demonstrated. Powder X-ray diffraction (XRD) confirmed the formation of single phase. Crystallite and particle size reductions were studied with XRD and AFM (Atomic Force Microscopy). Different morphologies such as hexagonal nanoflakes with cross section of around˜6µm, nanoflower and octahedral agglomerated crystals of nearly ˜60 nm size have been observed in scanning electron microscope while varying the microwave assisted synthesis procedures. A significant blue shift observed in diffuse reflectance spectroscopy evidences the energy gap tuning as a result of morphological evolution. The difference in morphology observed in this three fast, facile and scalable synthesis is advantageous for tuning the thermoelectric figure of merit and for probing the surface states of these topological insulators. Low temperature resistivity remains similar for all three variants depicting a 2D character as evidenced by a -lnT term of localization.

In Vitro Analysis of Virus Particle Subpopulations in Candidate Live-Attenuated Influenza Vaccines Distinguishes Effective from Ineffective Vaccines▿

PubMed Central

Marcus, Philip I.; Ngunjiri, John M.; Sekellick, Margaret J.; Wang, Leyi; Lee, Chang-Won

2010-01-01

Two effective (vac+) and two ineffective (vac−) candidate live-attenuated influenza vaccines (LAIVs) derived from naturally selected genetically stable variants of A/TK/OR/71-delNS1[1-124] (H7N3) that differed only in the length and kind of amino acid residues at the C terminus of the nonstructural NS1 protein were analyzed for their content of particle subpopulations. These subpopulations included total physical particles (measured as hemagglutinating particles [HAPs]) with their subsumed biologically active particles of infectious virus (plaque-forming particles [PFPs]) and different classes of noninfectious virus, namely, interferon-inducing particles (IFPs), noninfectious cell-killing particles (niCKPs), and defective interfering particles (DIPs). The vac+ variants were distinguished from the vac− variants on the basis of their content of viral subpopulations by (i) the capacity to induce higher quantum yields of interferon (IFN), (ii) the generation of an unusual type of IFN-induction dose-response curve, (iii) the presence of IFPs that induce IFN more efficiently, (iv) reduced sensitivity to IFN action, and (v) elevated rates of PFP replication that resulted in larger plaques and higher PFP and HAP titers. These in vitro analyses provide a benchmark for the screening of candidate LAIVs and their potential as effective vaccines. Vaccine design may be improved by enhancement of attributes that are dominant in the effective (vac+) vaccines. PMID:20739541

In vitro analysis of virus particle subpopulations in candidate live-attenuated influenza vaccines distinguishes effective from ineffective vaccines.

PubMed

Marcus, Philip I; Ngunjiri, John M; Sekellick, Margaret J; Wang, Leyi; Lee, Chang-Won

2010-11-01

Two effective (vac+) and two ineffective (vac-) candidate live-attenuated influenza vaccines (LAIVs) derived from naturally selected genetically stable variants of A/TK/OR/71-delNS1[1-124] (H7N3) that differed only in the length and kind of amino acid residues at the C terminus of the nonstructural NS1 protein were analyzed for their content of particle subpopulations. These subpopulations included total physical particles (measured as hemagglutinating particles [HAPs]) with their subsumed biologically active particles of infectious virus (plaque-forming particles [PFPs]) and different classes of noninfectious virus, namely, interferon-inducing particles (IFPs), noninfectious cell-killing particles (niCKPs), and defective interfering particles (DIPs). The vac+ variants were distinguished from the vac- variants on the basis of their content of viral subpopulations by (i) the capacity to induce higher quantum yields of interferon (IFN), (ii) the generation of an unusual type of IFN-induction dose-response curve, (iii) the presence of IFPs that induce IFN more efficiently, (iv) reduced sensitivity to IFN action, and (v) elevated rates of PFP replication that resulted in larger plaques and higher PFP and HAP titers. These in vitro analyses provide a benchmark for the screening of candidate LAIVs and their potential as effective vaccines. Vaccine design may be improved by enhancement of attributes that are dominant in the effective (vac+) vaccines.

Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia

PubMed Central

Galinsky, Kevin J.; Bhatia, Gaurav; Loh, Po-Ru; Georgiev, Stoyan; Mukherjee, Sayan; Patterson, Nick J.; Price, Alkes L.

2016-01-01

Searching for genetic variants with unusual differentiation between subpopulations is an established approach for identifying signals of natural selection. However, existing methods generally require discrete subpopulations. We introduce a method that infers selection using principal components (PCs) by identifying variants whose differentiation along top PCs is significantly greater than the null distribution of genetic drift. To enable the application of this method to large datasets, we developed the FastPCA software, which employs recent advances in random matrix theory to accurately approximate top PCs while reducing time and memory cost from quadratic to linear in the number of individuals, a computational improvement of many orders of magnitude. We apply FastPCA to a cohort of 54,734 European Americans, identifying 5 distinct subpopulations spanning the top 4 PCs. Using the PC-based test for natural selection, we replicate previously known selected loci and identify three new genome-wide significant signals of selection, including selection in Europeans at ADH1B. The coding variant rs1229984∗T has previously been associated to a decreased risk of alcoholism and shown to be under selection in East Asians; we show that it is a rare example of independent evolution on two continents. We also detect selection signals at IGFBP3 and IGH, which have also previously been associated to human disease. PMID:26924531

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bowley, S.; Okumura, N; Lord, S

'A:a' knob-hole interactions and D:D interfacial interactions are important for fibrin polymerization. Previous studies with recombinant ?N308K fibrinogen, a substitution at the D:D interface, showed impaired polymerization. We examined the molecular basis for this loss of function by solving the crystal structure of ?N308K fragment D. In contrast to previous fragment D crystals, the ?N308K crystals belonged to a tetragonal space group with an unusually long unit cell (a = b = 95 Angstroms, c = 448.3 Angstroms). Alignment of the normal and ?N308K structures showed the global structure of the variant was not changed and the knob 'A' peptidemore » GPRP was bound as usual to hole 'a'. The substitution introduced an elongated positively charged patch in the D:D region. The structure showed novel, symmetric D:D crystal contacts between ?N308K molecules, indicating the normal asymmetric D:D interface in fibrin would be unstable in this variant. We examined GPRP binding to ?N308K in solution by plasmin protection assay. The results showed weaker peptide binding, suggesting that 'A:a' interactions were altered. We examined fibrin network structures by scanning electron microscopy and found the variant fibers were thicker and more heterogeneous than normal fibers. Considered together, our structural and biochemical studies indicate both 'A:a' and D:D interactions are weaker. We conclude that stable protofibrils cannot assemble from ?N308K monomers, leading to impaired polymerization.« less

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PubMed

Harakalova, Magdalena; van den Boogaard, Marie-Jose; Sinke, Richard; van Lieshout, Stef; van Tuil, Marc C; Duran, Karen; Renkens, Ivo; Terhal, Paulien A; de Kovel, Carolien; Nijman, Ies J; van Haelst, Mieke; Knoers, Nine V A M; van Haaften, Gijs; Kloosterman, Wigard; Hennekam, Raoul C M; Cuppen, Edwin; Ploos van Amstel, Hans Kristian

2012-08-01

We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not identical to Wilson-Turner syndrome. Seven female relatives show a much milder expression of the phenotype. We performed X chromosome exome (X-exome) sequencing in five individuals from this family and identified a novel intronic variant in the histone deacetylase 8 gene (HDAC8), c.164+5G>A, which disturbs the normal splicing of exon 2 resulting in exon skipping, and introduces a premature stop at the beginning of the histone deacetylase catalytic domain. The identified variant completely segregates in this family and was absent in 96 Dutch controls and available databases. Affected female carriers showed a notably skewed X-inactivation pattern in lymphocytes in which the mutated X-chromosome was completely inactivated. HDAC8 is a member of the protein family of histone deacetylases that play a major role in epigenetic gene silencing during development. HDAC8 specifically controls the patterning of the skull with the mouse HDAC8 knock-out showing craniofacial deformities of the skull. The present family provides the first evidence for involvement of HDAC8 in a syndromic form of intellectual disability.

Interaction of phase variation, host and pressure/gas composition: pneumococcal gene expression of PsaA, SpxB, Ply and LytA in simulated middle ear environments.

PubMed

Li-Korotky, Ha-Sheng; Lo, Chia-Yee; Zeng, Fan-Rui; Lo, David; Banks, Juliane M

2009-10-01

Streptococcus pneumoniae, a leading cause of otitis media (OM), undergoes spontaneous intra-strain variations in colony morphology. Transparent (T) variants are more efficient in colonizing the nasopharynx while opaque (O) variants exhibit greater virulence during systemic infections. This study was intended to delineate the underlying molecular mechanisms by which the predominant S. pneumoniae variant efficiently infects the middle ear (ME) mucosa. Human ME epithelial cells were preconditioned for 24h under one of the three gas/pressure conditions designed to simulate those for (1) normal ME (NME), (2) ME with Eustachian tube obstruction (ETO) and (3) ME with tympanostomy tube placement (TT), and then were incubated with ∼ 10(7)CFU/ml of either T or O variants of S. pneumoniae (6A) for 3h. Relative expression levels of genes encoding virulence factors, PsaA (surface adhesion), SpxB (pyruvate oxidase), Ply (pneumolysin), and LytA (autolysin) were assessed separately in epithelium-attached and supernatant bacteria 3h post infection using real-time PCR. Basal levels of the virulence molecules in inocula were comparable between two variants. However, relative expression levels of the gene transcripts were significantly induced in epithelium-attached T variants 3h after infection. Comparing with NME and TT conditions, ETO environment produced the largest effect on the differential expression of the virulence genes in the infected ME epithelial cells between T (induced) and O (suppressed) phenotypic pneumococci. T variant is a predominant phenotype responsible for the pathogenesis of pneumococcal OM.

A metagenome-derived thermostable β-glucanase with an unusual module architecture which defines the new glycoside hydrolase family GH148.

PubMed

Angelov, Angel; Pham, Vu Thuy Trang; Übelacker, Maria; Brady, Silja; Leis, Benedikt; Pill, Nicole; Brolle, Judith; Mechelke, Matthias; Moerch, Matthias; Henrissat, Bernard; Liebl, Wolfgang

2017-12-11

The discovery of novel and robust enzymes for the breakdown of plant biomass bears tremendous potential for the development of sustainable production processes in the rapidly evolving new bioeconomy. By functional screening of a metagenomic library from a volcano soil sample a novel thermostable endo-β-glucanase (EngU) which is unusual with regard to its module architecture and cleavage specificity was identified. Various recombinant EngU variants were characterized. Assignment of EngU to an existing glycoside hydrolase (GH) family was not possible. Two regions of EngU showed weak sequence similarity to proteins of the GH clan GH-A, and acidic residues crucial for catalytic activity of EngU were identified by mutation. Unusual, a carbohydrate-binding module (CBM4) which displayed binding affinity for β-glucan, lichenin and carboxymethyl-cellulose was found as an insertion between these two regions. EngU hydrolyzed β-1,4 linkages in carboxymethyl-cellulose, but displayed its highest activity with mixed linkage (β-1,3-/β-1,4-) glucans such as barley β-glucan and lichenin, where in contrast to characterized lichenases cleavage occurred predominantly at the β-1,3 linkages of C4-substituted glucose residues. EngU and numerous related enzymes with previously unknown function represent a new GH family of biomass-degrading enzymes within the GH-A clan. The name assigned to the new GH family is GH148.

Unusual presentation of anaplastic large cell lymphoma with clinical course mimicking fever of unknown origin and sepsis: autopsy study of five cases.

PubMed

Mosunjac, Marina B; Sundstrom, J Bruce; Mosunjac, Mario I

2008-10-01

To describe a subset of cases with the unusual clinical and histomorphological presentation of anaplastic large cell lymphoma (ALCL) mimicking fever of unknown origin (FUO) and sepsis. A pathology database was searched using full term Systematized Nomenclature of Medicine codes for ALCL to identify 23ALCL cases from the period 1999-2006. Of those, five cases that did not have a correct premortem diagnosis were further analyzed to elucidate the reasons for delayed and incorrect pre-mortem diagnosis. The analyzed data included clinical presentation, duration of symptoms, duration of hospital stay, premortem presumed cause of death, white blood cell count, platelet count, anion gap and blood pH, liver enzymes (alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase), lactate, coagulation tests (prothrombin time, partial thromboplastin time, fibrinogen, D-dimers), microbiology cultures, and radiology and surgical pathology reports. Autopsy reports were reviewed for description of major gross findings, initial clinical diagnosis, and cause of death. Five fatal and pre-mortem unrecognized ALCL cases were characterized by rapid decline, with histologic findings showing predominantly extranodal involvement, intravascular lymphomatosis, and hemophagocytosis. The cases were also characterized by unusual clinical manifestations including a FUO, sepsis, and disseminated intravascular coagulation-like picture, lactic acidosis, hepatosplenomegaly, and absence of significant peripheral adenopathy. There is a distinct group of ALCLs with unique and specific clinical, gross autopsy, and histopathologic findings. Recognition of this clinical variant may facilitate early detection and potentially timely diagnosis and therapy.

A Link No Longer Missing: New Evidence for the Cetotheriid Affinities of Caperea.

PubMed

Marx, Felix G; Fordyce, R Ewan

2016-01-01

The origins of the enigmatic pygmy right whale Caperea marginata, the only living member of its subfamily (Neobalaeninae), are an outstanding mystery of cetacean evolution. Its strikingly disparate morphology sets Caperea apart from all other whales, and has turned it into a wildcard taxon that holds the key to understanding modern baleen whale diversity. Morphological cladistics generally ally this species with right whales, whereas molecular analyses consistently cluster it with rorquals and grey whales (Balaenopteroidea). A recent study potentially resolved this conflict by proposing that Caperea belongs with the otherwise extinct Cetotheriidae, but has been strongly criticised on morphological grounds. Evidence from the neobalaenine fossil record could potentially give direct insights into morphological transitions, but is currently limited to just a single species: the Late Miocene Miocaperea pulchra, from Peru. We show that Miocaperea has a highly unusual morphology of the auditory region, resulting from a-presumably feeding-related-strengthening of the articulation of the hyoid apparatus with the skull. This distinctive arrangement is otherwise only found in the extinct Cetotheriidae, which makes Miocaperea a "missing link" that demonstrates the origin of pygmy right whales from cetotheriids, and confirms the latter's resurrection from the dead.

A Link No Longer Missing: New Evidence for the Cetotheriid Affinities of Caperea

PubMed Central

Marx, Felix G.; Fordyce, R. Ewan

2016-01-01

The origins of the enigmatic pygmy right whale Caperea marginata, the only living member of its subfamily (Neobalaeninae), are an outstanding mystery of cetacean evolution. Its strikingly disparate morphology sets Caperea apart from all other whales, and has turned it into a wildcard taxon that holds the key to understanding modern baleen whale diversity. Morphological cladistics generally ally this species with right whales, whereas molecular analyses consistently cluster it with rorquals and grey whales (Balaenopteroidea). A recent study potentially resolved this conflict by proposing that Caperea belongs with the otherwise extinct Cetotheriidae, but has been strongly criticised on morphological grounds. Evidence from the neobalaenine fossil record could potentially give direct insights into morphological transitions, but is currently limited to just a single species: the Late Miocene Miocaperea pulchra, from Peru. We show that Miocaperea has a highly unusual morphology of the auditory region, resulting from a–presumably feeding-related–strengthening of the articulation of the hyoid apparatus with the skull. This distinctive arrangement is otherwise only found in the extinct Cetotheriidae, which makes Miocaperea a “missing link” that demonstrates the origin of pygmy right whales from cetotheriids, and confirms the latter’s resurrection from the dead. PMID:27711216

Chronic Inflammatory Demyelinating Polyneuropathy Manifesting as Neuropathy With Liability to Pressure Palsies: A Case Report.

PubMed

Shah, Akshay; Rison, Richard A; Beydoun, Said R

2015-12-01

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a progressive demyelinating neuropathy, which typically presents with proximal and distal neuropathic symptoms and is typically responsive to immunomodulatory therapies. Many variants have been subsequently described in the literature and have similarly shown to be responsive to immunotherapy. We present a case of a 43-year-old Middle Eastern/Arabic man presenting with symptoms of mixed sensorimotor neuropathy most evident at entrapment sites mimicking hereditary neuropathy with liability to pressure palsies. His electrodiagnostic study revealed features of acquired demyelinating neuropathy and a negative genetic workup. Alternative diagnosis of CIDP was considered in the context of symptomatic disease progression, negative genetic workup, and electrodiagnosis leading to initiation of immunotherapy with intravenous immunoglobulins. His neuropathy responded confirming our diagnosis of an inflammatory demyelinating polyneuropathy. We describe a previously unknown variant of CIDP with phenotypic characteristics of hereditary neuropathy with liability to pressure palsies and its potential for successful treatment with intravenous immunoglobulins. This case illustrates an unusual presentation of CIDP mimicking hereditary neuropathy with liability to pressure palsies.

A Rare SNP Identified a TCP Transcription Factor Essential for Tendril Development in Cucumber.

PubMed

Wang, Shenhao; Yang, Xueyong; Xu, Mengnan; Lin, Xingzhong; Lin, Tao; Qi, Jianjian; Shao, Guangjin; Tian, Nana; Yang, Qing; Zhang, Zhonghua; Huang, Sanwen

2015-12-07

Rare genetic variants are abundant in genomes but less tractable in genome-wide association study. Here we exploit a strategy of rare variation mapping to discover a gene essential for tendril development in cucumber (Cucumis sativus L.). In a collection of >3000 lines, we discovered a unique tendril-less line that forms branches instead of tendrils and, therefore, loses its climbing ability. We hypothesized that this unusual phenotype was caused by a rare variation and subsequently identified the causative single nucleotide polymorphism. The affected gene TEN encodes a TCP transcription factor conserved within the cucurbits and is expressed specifically in tendrils, representing a new organ identity gene. The variation occurs within a protein motif unique to the cucurbits and impairs its function as a transcriptional activator. Analyses of transcriptomes from near-isogenic lines identified downstream genes required for the tendril's capability to sense and climb a support. This study provides an example to explore rare functional variants in plant genomes. Copyright © 2015 The Author. Published by Elsevier Inc. All rights reserved.

Prolonged Co-circulation of Two Distinct Dengue Virus Type 3 Lineages in the Hyperendemic Area of Medellín, Colombia

PubMed Central

Ospina, Marta C.; Diaz, Francisco J.; Osorio, Jorge E.

2010-01-01

During the past two decades, Dengue virus-3 (DENV-3) has re-emerged in the Western Hemisphere causing significant epidemics of dengue fever (DF) and dengue hemorrhagic fever (DHF). In an effort to understand the molecular evolution of DENV-3 and their relationships to other DENV-3 circulating in the western hemisphere, we conducted a phylogenetic study on DENV-3 isolates made between 2002 and 2007 in the metropolitan area of Medellín, Colombia. An unexpected co-circulation of two different variants of DENV-3 subtype III during at least 5 years in Medellín was found. In addition, a more complete analysis of DENV-3 viruses isolated in other South American regions revealed the existence of three different subtype III lineages, all derived from independent introductions. This study documents significant genetic diversity of circulating viruses within the same subtype and an unusual capacity of the population of this city to support continuous circulation of multiple variants of dengue virus. PMID:20810837

Ca2+ signalling, voltage-gated Ca2+ channels and praziquantel in flatworm neuromusculature.

PubMed

Greenberg, R M

2005-01-01

Transient changes in calcium (Ca2+) levels regulate a wide variety of cellular processes, and cells employ both intracellular and extracellular sources of Ca2+ for signalling. Praziquantel, the drug of choice against schistosomiasis, disrupts Ca2+ homeostasis in adult worms. This review will focus on voltage-gated Ca2+ channels, which regulate levels of intracellular Ca2+ by coupling membrane depolarization to entry of extracellular Ca2+. Ca2+ channels are members of the ion channel superfamily and represent essential components of neurons, muscles and other excitable cells. Ca2+ channels are membrane protein complexes in which the pore-forming alpha1 subunit is modulated by auxiliary subunits such as beta and alpha2delta. Schistosomes express two Ca2+ channel beta subunit subtypes: a conventional subtype similar to beta subunits found in other vertebrates and invertebrates and a novel variant subtype with unusual structural and functional properties. The variant schistosome beta subunit confers praziquantel sensitivity to an otherwise praziquantel-insensitive mammalian Ca2+ channel, implicating it as a mediator of praziquantel action.

Fluorescence from Multiple Chromophore Hydrogen-Bonding States in the Far-Red Protein TagRFP675.

PubMed

Konold, Patrick E; Yoon, Eunjin; Lee, Junghwa; Allen, Samantha L; Chapagain, Prem P; Gerstman, Bernard S; Regmi, Chola K; Piatkevich, Kiryl D; Verkhusha, Vladislav V; Joo, Taiha; Jimenez, Ralph

2016-08-04

Far-red fluorescent proteins are critical for in vivo imaging applications, but the relative importance of structure versus dynamics in generating large Stokes-shifted emission is unclear. The unusually red-shifted emission of TagRFP675, a derivative of mKate, has been attributed to the multiple hydrogen bonds with the chromophore N-acylimine carbonyl. We characterized TagRFP675 and point mutants designed to perturb these hydrogen bonds with spectrally resolved transient grating and time-resolved fluorescence (TRF) spectroscopies supported by molecular dynamics simulations. TRF results for TagRFP675 and the mKate/M41Q variant show picosecond time scale red-shifts followed by nanosecond time blue-shifts. Global analysis of the TRF spectra reveals spectrally distinct emitting states that do not interconvert during the S1 lifetime. These dynamics originate from photoexcitation of a mixed ground-state population of acylimine hydrogen bond conformers. Strategically tuning the chromophore environment in TagRFP675 might stabilize the most red-shifted conformation and result in a variant with a larger Stokes shift.

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

PubMed Central

Rebelo, Adriana P.; Abrams, Alexander J.; Cottenie, Ellen; Horga, Alejandro; Gonzalez, Michael; Bis, Dana M.; Sanchez-Mejias, Avencia; Pinto, Milena; Buglo, Elena; Markel, Kasey; Prince, Jeffrey; Laura, Matilde; Houlden, Henry; Blake, Julian; Woodward, Cathy; Sweeney, Mary G.; Holton, Janice L.; Hanna, Michael; Dallman, Julia E.; Auer-Grumbach, Michaela; Reilly, Mary M.; Zuchner, Stephan

2016-01-01

Abnormal protein aggregation is observed in an expanding number of neurodegenerative diseases. Here, we describe a mechanism for intracellular toxic protein aggregation induced by an unusual mutation event in families affected by axonal neuropathy. These families carry distinct frameshift variants in NEFH (neurofilament heavy), leading to a loss of the terminating codon and translation of the 3′ UTR into an extra 40 amino acids. In silico aggregation prediction suggested the terminal 20 residues of the altered NEFH to be amyloidogenic, which we confirmed experimentally by serial deletion analysis. The presence of this amyloidogenic motif fused to NEFH caused prominent and toxic protein aggregates in transfected cells and disrupted motor neurons in zebrafish. We identified a similar aggregation-inducing mechanism in NEFL (neurofilament light) and FUS (fused in sarcoma), in which mutations are known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, respectively. In summary, we present a protein-aggregation-triggering mechanism that should be taken into consideration during the evaluation of stop-loss variants. PMID:27040688

An unusual spliced variant of DELLA protein, a negative regulator of gibberellin signaling, in lettuce.

PubMed

Sawada, Yoshiaki; Umetsu, Asami; Komatsu, Yuki; Kitamura, Jun; Suzuki, Hiroyuki; Asami, Tadao; Fukuda, Machiko; Honda, Ichiro; Mitsuhashi, Wataru; Nakajima, Masatoshi; Toyomasu, Tomonobu

2012-01-01

DELLA proteins are negative regulators of the signaling of gibberellin (GA), a phytohormone regulating plant growth. DELLA degradation is triggered by its interaction with GID1, a soluble GA receptor, in the presence of bioactive GA. We isolated cDNA from a spliced variant of LsDELLA1 mRNA in lettuce, and named it LsDELLA1sv. It was deduced that LsDELLA1sv encodes truncated LsDELLA1, which has DELLA and VHYNP motifs at the N terminus but lacks part of the C-terminal GRAS domain. The recombinant LsDELLA1sv protein interacted with both Arabidopsis GID1 and lettuce GID1s in the presence of GA. A yeast two-hybrid assay suggested that LsDELLA1sv interacted with LsDELLA1. The ratio of LsDELLA1sv to LsDELLA1 transcripts was higher in flower samples at the late reproductive stage and seed samples (dry seeds and imbibed seeds) than in the other organ samples examined. This study suggests that LsDELLA1sv is a possible modulator of GA signaling in lettuce.

Using the 12-lead ECG to localize the origin of ventricular and atrial tachycardias: part 1. Focal atrial tachycardia.

PubMed

Teh, Andrew W; Kistler, Peter M; Kalman, Jonathan M

2009-06-01

Focal atrial tachycardia is an unusual form of supraventricular tachycardia arising from defined anatomic locations and sites within the atria. Although recent advances in mapping technology have facilitated successful ablation, the surface ECG remains an important aid in localizing the focus. This review discusses the use of P-wave morphology on surface ECG to localize the site of focal atrial tachycardia.

Microscope-aided endodontic treatment of maxillary first premolars with three roots: a case series.

PubMed

Karumaran, C S; Gunaseelan, R; Krithikadatta, J

2011-01-01

Maxillary premolars have a highly variable root canal morphology. However, the presence of three roots is a rare occurrence. This clinical article describes the unusual anatomy detected in maxillary premolars during routine endodontic treatment using microscope. The diagnosis and clinical management of maxillary first premolars with three roots and canals using radiographic interpretation, access cavity modification and visual enhancement with operative microscopes is discussed in the article.

Unusual Thermal Stability of High-Entropy Alloy Amorphous Structure

DTIC Science & Technology

2012-06-20

incident angle X - ray diffractometer (GIAXRD, RIGAKU D/MAX2500) with Cu Kα radiation and at the incident angle of 1°. The surface morphology and...microanalyzer (EPMA, JEOL JAX-8800). The crystallographic structures of as-deposited and annealed metallic films were characterized utilizing a glancing ...field image and selected-area- diffraction (SAD) patterns of (a) 800 °C-, (b) 850 °C- and (c) 900 °C-annealed alloy thin films, respectively. Both

Unusual strains of Microsporum audouinii causing tinea in Europe.

PubMed

Brasch, J; Müller, S; Gräser, Y

2015-10-01

We comment on an unusual strain of Microsporum (M.) audouinii. It was isolated from tinea corporis of a boy who lived in Germany and most likely had acquired his infection during a stay on a farm with animal husbandry in Poland. The strain showed features of M. canis (plenty of markedly rough-walled macroconidia, growth on rice, positive hair perforation) as well as of M. audouinii (white thallus, long macroconidia with central constriction) and in vitro it degraded hair of various mammals. Because its ribosomal internal transcribed spacer region showed 99.9% homology to a M. audouinii reference strain it was finally identified as M. audouinii. We relate these findings with recent observations of M. audouinii causing tinea in Europe. This appraisal suggests that irrespective of an identical ribosomal ITS region distinct M. audouinii strains can display a spectrum of morphological and physiological features that is broader than currently outlined in mycological textbooks. Certain unusual characteristics like an enhanced capacity to utilise keratins may even be associated with unexpected transmission routes. Above all sporadic M. audouinii infections in Europe that bear no relation to an endemic area should be analysed from this perspective. © 2015 Blackwell Verlag GmbH.

Workforce Effects and the Evolution of Complex Sociality in Wild Damaraland Mole Rats.

PubMed

Young, Andrew J; Jarvis, Jennifer U M; Barnaville, James; Bennett, Nigel C

2015-08-01

Explaining the evolution of eusocial and cooperatively breeding societies demands that we understand the effects of workforce size on the reproductive success of breeders. This challenge has yet to be addressed in the family that arguably exhibits the most extreme outcomes of vertebrate social evolution, the African mole rats (Bathyergidae), leaving the ultimate causes of their many unusual adaptations open to debate. Here we report-using a 14-year field study of wild Damaraland mole rats, Fukomys damarensis-that workers appear to have strong but unusual effects on offspring. Groups with larger workforces exhibited substantially higher rates of offspring recruitment while maintaining high juvenile survival rates, relationships that may have favored the evolution of the delayed dispersal, cooperation, morphological specialization, and unusual patterns of longevity that characterize such societies. Offspring reared by larger workforces also showed slower growth, however. That reduced offspring growth in larger groups has also been documented under ad lib. food conditions in the laboratory raises the possibility that this reflects socially induced growth restraint rather than simple constraints on resource availability. Our findings shed new light on the evolution of complex sociality in this enigmatic clade and highlight further departures from the norms reported for other cooperative vertebrates.

Variant Inferior Alveolar Nerves and Implications for Local Anesthesia

PubMed Central

Wolf, Kevin T.; Brokaw, Everett J.; Bell, Andrea; Joy, Anita

2016-01-01

A sound knowledge of anatomical variations that could be encountered during surgical procedures is helpful in avoiding surgical complications. The current article details anomalous morphology of inferior alveolar nerves encountered during routine dissection of the craniofacial region in the Gross Anatomy laboratory. We also report variations of the lingual nerves, associated with the inferior alveolar nerves. The variations were documented and a thorough review of literature was carried out. We focus on the variations themselves, and the clinical implications that these variations present. Thorough understanding of variant anatomy of the lingual and inferior alveolar nerves may determine the success of procedural anesthesia, the etiology of pathologic processes, and the avoidance of surgical misadventure. PMID:27269666

Identified OAS3 gene variants associated with coexistence of HBsAg and anti-HBs in chronic HBV infection.

PubMed

Wang, S; Wang, J; Fan, M-J; Li, T-Y; Pan, H; Wang, X; Liu, H-K; Lin, Q-F; Zhang, J-G; Guan, L-P; Zhernakova, D V; O'Brien, S J; Feng, Z-R; Chang, L; Dai, E-H; Lu, J-H; Xi, H-L; Zeng, Z; Yu, Y-Y; Wang, B-B

2018-03-27

The underlying mechanism of coexistence of hepatitis B surface antigen (HBsAg) and hepatitis B surface antigen antibody (anti-HBs) is still controversial. To identify the host genetic factors related to this unusual clinical phenomenon, a two-stage study was conducted in the Chinese Han population. In the first stage, we performed a case-control (1:1) age- and gender-matched study of 101 cases with concurrent HBsAg and anti-HBs and 102 controls with negative HBsAg and positive anti-HBs using whole exome sequencing. In the second validation stage, we directly sequence the 16 exons on the OAS3 gene in two dependent cohorts of 48 cases and 200 controls. Although, in the first stage, a genome-wide association study of 58,563 polymorphism variants in 101 cases and 102 controls found no significant loci (P-value ≤ .05/58563), and neither locus achieved a conservative genome-wide significance threshold (P-value ≤ 5e-08), gene-based burden analysis showed that OAS3 gene rare variants were associated with the coexistence of HBsAg and anti-HBs. (P-value = 4.127e-06 ≤ 0.05/6994). A total of 16 rare variants were screened out from 21 cases and 3 controls. In the second validation stage, one case with a stop-gained rare variant was identified. Fisher's exact test of all 149 cases and 302 controls showed that the rare coding sequence mutations were more frequent in cases vs controls (P-value = 7.299e-09, OR = 17.27, 95% CI [5.01-58.72]). Protein-coding rare variations on the OAS3 gene are associated with the coexistence of HBsAg and anti-HBs in patients with chronic HBV infection in Chinese Han population. © 2018 John Wiley & Sons Ltd.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

PubMed

Balasubramaniam, Shanti; Lewis, B; Mock, D M; Said, H M; Tarailo-Graovac, M; Mattman, A; van Karnebeek, C D; Thorburn, D R; Rodenburg, R J; Christodoulou, J

2017-01-01

Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, is a genetically heterogeneous, relentlessly progressive, devastating neurodegenerative disorder that usually presents in infancy or early childhood. A diagnosis of Leigh-like syndrome may be considered in individuals who do not fulfil the stringent diagnostic criteria but have features resembling Leigh syndrome.We describe a unique presentation of Leigh-like syndrome in a 3-year-old boy with elevated 3-hydroxyisovalerylcarnitine (C5-OH) on newborn screening (NBS). Subsequent persistent plasma elevations of C5-OH and propionylcarnitine (C3) as well as fluctuating urinary markers were suggestive of multiple carboxylase deficiency (MCD). Normal enzymology and mutational analysis of genes encoding holocarboxylase synthetase (HLCS) and biotinidase (BTD) excluded MCD. Biotin uptake studies were normal excluding biotin transporter deficiency. His clinical features at 13 months of age comprised psychomotor delay, central hypotonia, myopathy, failure to thrive, hypocitrullinemia, recurrent episodes of decompensation with metabolic keto-lactic acidosis and an episode of hyperammonemia. Biotin treatment from 13 months of age was associated with increased patient activity, alertness, and attainment of new developmental milestones, despite lack of biochemical improvements. Whole exome sequencing (WES) analysis failed to identify any other variants which could likely contribute to the observed phenotype, apart from the homoplasmic (100%) m.8993T>G variant initially detected by mitochondrial DNA (mtDNA) sequencing.Hypocitrullinemia has been reported in patients with the m.8993T>G variant and other mitochondrial disorders. However, persistent plasma elevations of C3 and C5-OH have previously only been reported in one other patient with this homoplasmic mutation. We suggest considering the m.8993T>G variant early in the diagnostic evaluation of MCD-like biochemical disturbances, particularly when associated with hypocitrullinemia on NBS and subsequent confirmatory tests. An oral biotin trial is also warranted.

Electron microscopic examination of uncultured soil-dwelling bacteria.

PubMed

Amako, Kazunobu; Takade, Akemi; Taniai, Hiroaki; Yoshida, Shin-ichi

2008-05-01

Bacteria living in soil collected from a rice paddy in Fukuoka, Japan, were examined by electron microscopy using a freeze-substitution fixation method. Most of the observed bacteria could be categorized, based on the structure of the cell envelope and overall morphology, into one of five groups: (i) bacterial spore; (ii) Gram-positive type; (iii) Gram-negative type; (iv) Mycobacterium like; and (v) Archaea like. However, a few of the bacteria could not be readily categorized into one of these groups because they had unique cell wall structures, basically resembling those of Gram-negative bacteria, but with the layer corresponding to the peptidoglycan layer in Gram-negative bacteria being extremely thick, like that of the cortex of a bacterial spore. The characteristic morphological features found in many of these uncultured, soil-dwelling cells were the nucleoid being in a condensed state and the cytoplasm being shrunken. We were able to produce similar morphologies in vitro using a Salmonella sp. by culturing under low-temperature, low-nutrient conditions, similar to those found in some natural environments. These unusual morphologies are therefore hypothesized to be characteristic of bacteria in resting or dormant stages.

Morphological and ultrastructural changes in tobacco BY-2 cells exposed to microcystin-RR.

PubMed

Huang, Wenmin; Xing, Wei; Li, Dunhai; Liu, Yongding

2009-08-01

Tobacco BY-2 cells were exposed to microcystin-RR (MC-RR) at two concentrations, 60 microg mL(-1) and 120 microg mL(-1), to study the changes in morphology and ultrastructure of cells as a result of the exposure. Exposure to the lower concentration for 5 d led to typical apoptotic morphological changes including condensation of nuclear chromatin, creation of a characteristic 'half moon' structure, and cytoplasm shrinkage and decreased cell volume, as revealed through light microscopy, fluorescence microscopy, and transmission electron microscopy, respectively. Exposure to the higher concentration, on the other hand, led to morphological and ultrastructural changes typical of necrosis, such as rupture of the plasma membrane and the nuclear membrane and a marked swelling of cells. The presence of many vacuoles containing unusual deposits points to the involvement of vacuoles in detoxifying MC-RR. Results of the present study indicate that exposure of tobacco BY-2 cells to MC-RR at a lower concentration (60 microg mL(-1)) results in apoptosis and that to a higher concentration (120 microg mL(-1)), in necrosis.

[X-ray semiotics of the morphological and functional changes in chronic bronchitis].

PubMed

Khomenko, A G; Dmitrieva, L I; Polak, J; Gapon'ko, G A; Starilova, I P

1985-01-01

The authors analysed structural disorders of a pulmonary pattern in patients with non-obstructive, obstructive and purulent bronchitis. Characteristic x-ray symptom-complexes were singled out for each clinical variant of the disease. In addition to roentgenomorphological changes functional disorders showing changes of biomechanics in patients with chronic bronchitis were revealed at roentgenopneumopolygraphy.

Chromophobe hepatocellular carcinoma with abrupt anaplasia: a proposal for a new subtype of hepatocellular carcinoma with unique morphological and molecular features

PubMed Central

Wood, Laura D; Heaphy, Christopher M; Daniel, Hubert Darius-J; Naini, Bita V; Lassman, Charles R; Arroyo, May R; Kamel, Ihab R; Cosgrove, David P; Boitnott, John K; Meeker, Alan K; Torbenson, Michael S

2014-01-01

Hepatocellular carcinomas exhibit heterogeneous morphologies by routine light microscopy. Although some morphologies represent insignificant variations in growth patterns, others may represent unrecognized subtypes of hepatocellular carcinoma. Identification of these subtypes could lead to separation of hepatocellular carcinomas into discrete groups with unique underlying genetic changes, prognosis, or therapeutic responses. In order to identify potential subtypes, two pathologists independently screened a cohort of 219 unselected hepatocellular carcinoma resection specimens and divided cases into potential subtypes. One of these promising candidate subtypes was further evaluated using histological and molecular techniques. This subtype was characterized by a unique and consistent set of histological features: smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia (small clusters of tumor cells with marked nuclear anaplasia in a background of tumor cells with bland nuclear cytology), and scattered microscopic pseudocysts—we designate this variant as ‘chromophobe hepatocellular carcinoma with abrupt anaplasia’. Thirteen cases were identified (6% of all hepatocellular carcinomas), including 6 men and 7 women with an average age of 61 years. Six cases occurred in cirrhotic livers. Serum AFP was elevated in 6 out of 10 cases. There were a variety of underlying liver diseases, but cases were enrichment for chronic hepatitis B, P = 0.006. Interestingly, at the molecular level, this variant was strongly associated with the alternative lengthening of telomere (ALT) phenotype by telomere FISH. ALT is a telomerase-independent mechanism of telomere maintenance and is found in approximately 8% of unselected hepatocellular carcinomas. In contrast, 11/12 (92%) of the cases of chromophobe hepatocellular carcinoma with abrupt anaplasia were ALT-positive. In summary, we propose that chromophobe hepatocellular carcinoma with abrupt anaplasia represents a new subtype of hepatocellular carcinoma with unique morphological and molecular features. PMID:23640129

Chromophobe hepatocellular carcinoma with abrupt anaplasia: a proposal for a new subtype of hepatocellular carcinoma with unique morphological and molecular features.

PubMed

Wood, Laura D; Heaphy, Christopher M; Daniel, Hubert Darius-J; Naini, Bita V; Lassman, Charles R; Arroyo, May R; Kamel, Ihab R; Cosgrove, David P; Boitnott, John K; Meeker, Alan K; Torbenson, Michael S

2013-12-01

Hepatocellular carcinomas exhibit heterogeneous morphologies by routine light microscopy. Although some morphologies represent insignificant variations in growth patterns, others may represent unrecognized subtypes of hepatocellular carcinoma. Identification of these subtypes could lead to separation of hepatocellular carcinomas into discrete groups with unique underlying genetic changes, prognosis, or therapeutic responses. In order to identify potential subtypes, two pathologists independently screened a cohort of 219 unselected hepatocellular carcinoma resection specimens and divided cases into potential subtypes. One of these promising candidate subtypes was further evaluated using histological and molecular techniques. This subtype was characterized by a unique and consistent set of histological features: smooth chromophobic cytoplasm, abrupt focal nuclear anaplasia (small clusters of tumor cells with marked nuclear anaplasia in a background of tumor cells with bland nuclear cytology), and scattered microscopic pseudocysts--we designate this variant as 'chromophobe hepatocellular carcinoma with abrupt anaplasia'. Thirteen cases were identified (6% of all hepatocellular carcinomas), including 6 men and 7 women with an average age of 61 years. Six cases occurred in cirrhotic livers. Serum AFP was elevated in 6 out of 10 cases. There were a variety of underlying liver diseases, but cases were enrichment for chronic hepatitis B, P=0.006. Interestingly, at the molecular level, this variant was strongly associated with the alternative lengthening of telomere (ALT) phenotype by telomere FISH. ALT is a telomerase-independent mechanism of telomere maintenance and is found in approximately 8% of unselected hepatocellular carcinomas. In contrast, 11/12 (92%) of the cases of chromophobe hepatocellular carcinoma with abrupt anaplasia were ALT-positive. In summary, we propose that chromophobe hepatocellular carcinoma with abrupt anaplasia represents a new subtype of hepatocellular carcinoma with unique morphological and molecular features.

Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type.

PubMed

Lin, Douglas I; Chudnovsky, Yakov; Duggan, Bridget; Zajchowski, Deborah; Greenbowe, Joel; Ross, Jeffrey S; Gay, Laurie M; Ali, Siraj M; Elvin, Julia A

2017-12-01

Small cell carcinoma of the ovary, hypercalcemic-type (SCCOHT) is a rare, extremely aggressive neoplasm that usually occurs in young women and is characterized by deleterious germline or somatic SMARCA4 mutations. We performed comprehensive genomic profiling (CGP) to potentially identify additional clinically and pathophysiologically relevant genomic alterations in SCCOHT. CGP assessment of all classes of coding alterations in up to 406 genes commonly altered in cancer and intronic regions for up to 31 genes commonly rearranged in cancer was performed on 18 SCCOHT cases (16 exhibiting classic morphology and 2 cases exhibiting exclusive a large cell variant morphology). In addition, a retrospective database search for clinically advanced ovarian tumors with genomic profiles similar to SCCOHT yielded 3 additional cases originally diagnosed as non-SCCOHT. CGP revealed inactivating SMARCA4 alterations and low tumor mutational burden (TMB) (<6mutations/Mb) in 94% (15/16) of SCCOHT with classic morphology. In contrast, both (2/2) cases exhibiting only large cell variant morphology were hypermutated (TMB scores of 90 and 360mut/Mb) and were wildtype for SMARCA4. In our retrospective search, an index ovarian cancer patient harboring inactivating SMARCA4 alterations, initially diagnosed as endometrioid carcinoma, was re-classified as SCCOHT and responded to an SCCOHT chemotherapy regimen. The vast majority of SCCOHT demonstrate genomic SMARCA4 loss with only rare co-occurring alterations. Our data support a role for CGP in the diagnosis and management of SCCOHT and of other lesions with overlapping histological and clinical features, since identifying the former by genomic profile suggests benefit from an appropriate regimen and treatment decisions, as illustrated by an index patient. Copyright © 2017 Elsevier Inc. All rights reserved.

Morphology and genetic variability within Taenia multiceps in ruminants from Italy.

PubMed

Varcasia, Antonio; Pipia, Anna Paola; Dessì, Giorgia; Zidda, Antonella; Tamponi, Claudia; Pau, Marco; Scala, Antonio; Boufana, Belgees

2016-06-15

The aim of this study was to investigate the genetic variability and population structure of Taenia multiceps, and to correlate morphological features of individual coenuri with haplotypes. A total of 92 animals (86 sheep; 4 goats; 1 cattle; 1 mouflon, Ovis musimon) aged between 6-36 months showing clinical symptoms of cerebral coenurosis were included in this study. T. multiceps coenuri (n=118) sampled from live animals during routine surgery procedures or at post-mortem inspections were examined morphologically and molecularly identified. Morphological features of the 52 coenuri selected for this study (number and size of large and small hooks) were within the range reported in the literature. Fifty-two of the molecularly confirmed T. multiceps coenuri harboured by 47 animals (sheep=41; cattle=1; goats=4; mouflon=1) were used to determine gene genealogies and population genetic indices and were compared to the 3 T. multiceps genetic variants, Tm1-Tm3 previously described from Sardinia, Italy. For the 379 bp cox1 dataset we identified 11 polymorphic sites of which 8 were parsimony informative. A high haplotype diversity (0.664±0.067) was recorded for the cox1 sequences defining 10 haplotypes (TM01-TM10). The comparison of haplotypes generated in this study with published T. multiceps Tm1 variant pointed to the possible existence of a common lineage for T. multiceps. No correlation was detected between the size of the small and large hooks and the cox 1 haplotypes. Polycystic infestation (2-9 coenuri) was recorded in 27.7% of animals (13/47). No statistical correlation between polycystic T. multiceps infection and haplotypes was detected. Copyright © 2016 Elsevier B.V. All rights reserved.

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

PubMed Central

Liu, Fan; van der Lijn, Fedde; Schurmann, Claudia; Zhu, Gu; Chakravarty, M. Mallar; Hysi, Pirro G.; Wollstein, Andreas; Lao, Oscar; de Bruijne, Marleen; Ikram, M. Arfan; van der Lugt, Aad; Rivadeneira, Fernando; Uitterlinden, André G.; Hofman, Albert; Niessen, Wiro J.; Homuth, Georg; de Zubicaray, Greig; McMahon, Katie L.; Thompson, Paul M.; Daboul, Amro; Puls, Ralf; Hegenscheid, Katrin; Bevan, Liisa; Pausova, Zdenka; Medland, Sarah E.; Montgomery, Grant W.; Wright, Margaret J.; Wicking, Carol; Boehringer, Stefan; Spector, Timothy D.; Paus, Tomáš; Martin, Nicholas G.; Biffar, Reiner; Kayser, Manfred

2012-01-01

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications. PMID:23028347

A divergent Artiodactyl MYADM-like repeat is associated with erythrocyte traits and weight of lamb weaned in domestic sheep.

PubMed

Gonzalez, Michael V; Mousel, Michelle R; Herndon, David R; Jiang, Yu; Dalrymple, Brian P; Reynolds, James O; Johnson, Wendell C; Herrmann-Hoesing, Lynn M; White, Stephen N

2013-01-01

A genome-wide association study (GWAS) was performed to investigate seven red blood cell (RBC) phenotypes in over 500 domestic sheep (Ovis aries) from three breeds (Columbia, Polypay, and Rambouillet). A single nucleotide polymorphism (SNP) showed genome-wide significant association with increased mean corpuscular hemoglobin concentration (MCHC, P = 6.2×10(-14)) and genome-wide suggestive association with decreased mean corpuscular volume (MCV, P = 2.5×10(-6)). The ovine HapMap project found the same genomic region and the same peak SNP has been under extreme historical selective pressure, demonstrating the importance of this region for survival, reproduction, and/or artificially selected traits. We observed a large (>50 kb) variant haplotype sequence containing a full-length divergent artiodactyl MYADM-like repeat in strong linkage disequilibrium with the associated SNP. MYADM gene family members play roles in membrane organization and formation in myeloid cells. However, to our knowledge, no member of the MYADM gene family has been identified in development of morphologically variant RBCs. The specific RBC differences may be indicative of alterations in morphology. Additionally, erythrocytes with altered morphological structure often exhibit increased structural fragility, leading to increased RBC turnover and energy expenditure. The divergent artiodactyl MYADM-like repeat was also associated with increased ewe lifetime kilograms of lamb weaned (P = 2×10(-4)). This suggests selection for normal RBCs might increase lamb weights, although further validation is required before implementation in marker-assisted selection. These results provide clues to explain the strong selection on the artiodactyl MYADM-like repeat locus in sheep, and suggest MYADM family members may be important for RBC morphology in other mammals.

A Divergent Artiodactyl MYADM-like Repeat Is Associated with Erythrocyte Traits and Weight of Lamb Weaned in Domestic Sheep

PubMed Central

Gonzalez, Michael V.; Mousel, Michelle R.; Herndon, David R.; Jiang, Yu; Dalrymple, Brian P.; Reynolds, James O.; Johnson, Wendell C.; Herrmann-Hoesing, Lynn M.; White, Stephen N.

2013-01-01

A genome-wide association study (GWAS) was performed to investigate seven red blood cell (RBC) phenotypes in over 500 domestic sheep (Ovis aries) from three breeds (Columbia, Polypay, and Rambouillet). A single nucleotide polymorphism (SNP) showed genome-wide significant association with increased mean corpuscular hemoglobin concentration (MCHC, P = 6.2×10−14) and genome-wide suggestive association with decreased mean corpuscular volume (MCV, P = 2.5×10−6). The ovine HapMap project found the same genomic region and the same peak SNP has been under extreme historical selective pressure, demonstrating the importance of this region for survival, reproduction, and/or artificially selected traits. We observed a large (>50 kb) variant haplotype sequence containing a full-length divergent artiodactyl MYADM-like repeat in strong linkage disequilibrium with the associated SNP. MYADM gene family members play roles in membrane organization and formation in myeloid cells. However, to our knowledge, no member of the MYADM gene family has been identified in development of morphologically variant RBCs. The specific RBC differences may be indicative of alterations in morphology. Additionally, erythrocytes with altered morphological structure often exhibit increased structural fragility, leading to increased RBC turnover and energy expenditure. The divergent artiodactyl MYADM-like repeat was also associated with increased ewe lifetime kilograms of lamb weaned (P = 2×10−4). This suggests selection for normal RBCs might increase lamb weights, although further validation is required before implementation in marker-assisted selection. These results provide clues to explain the strong selection on the artiodactyl MYADM-like repeat locus in sheep, and suggest MYADM family members may be important for RBC morphology in other mammals. PMID:24023702

Hemoglobin Le Lamentin in the province of Albacete, Spain: Discovery of 32 cases.

PubMed

Martínez-López, Rosalina; Ropero, Paloma; Ballesteros Gallar, Cristina; Romero Román, Carlos; de la Fuente-Gonzalo, Félix; M Nieto, Jorge; Navarro Casado, Laura; González, Fernando A

2017-03-01

Hemoglobin Le Lamentin (α20(B1)His→Gln) is a ubiquitous variant that has been previously described in a small number of isolated patients. We report the incidental observation of Hb Le Lamentin in a large population from the province of Albacete, in southeastern Spain. Our study investigates possible reasons for the elevated number of carriers of this variant and its implications for the management of diabetes in our region. The subjects are 32 diabetic patients whose hemoglobin displayed an unusual peak while they were being tested for glycated hemoglobin at the laboratory of the University General Hospital of Albacete over a 3-year period. Measurements were made by high performance liquid chromatography using a Variant™ II Turbo Kit-2.0, and subsequently the samples of the 32 patients with anomalous peaks were sent to the Hospital Clínico San Carlos (Madrid, Spain) for molecular characterization of any Hb variants. Molecular studies revealed 31 out of 32 patients heterozygous for Le Lamentin, and in one of them, Hb City of Hope was associated with Hb Le Lamentin. The remaining patient was homozygous for the Le Lamentin mutation. Additionally, most patients were native to the northeastern half of the province of Albacete and were unrelated. Our study describes the largest finding to date of hemoglobin Le Lamentin in a sample of patients. The fact that our region has been perpetually depopulated, with a population that has remained stable in small localities over the centuries, may have favored the survival of the mutation. Since the presence of this variant underestimates the true value of glycated hemoglobin measured by HPLC, it is necessary to systematically review chromatograms. Copyright © 2016 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Attenuated variants of Lesch-Nyhan disease

PubMed Central

Ceballos-Picot, Irene; Torres, Rosa J.; Visser, Jasper E.; Schretlen, David J.; Verdu, Alfonso; Laróvere, Laura E.; Chen, Chung-Jen; Cossu, Antonello; Wu, Chien-Hui; Sampat, Radhika; Chang, Shun-Jen; de Kremer, Raquel Dodelson; Nyhan, William; Harris, James C.; Reich, Stephen G.; Puig, Juan G.

2010-01-01

Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the classic disease, variant forms of the disease occur wherein some clinical features are absent or unusually mild. The current studies provide the results of a prospective and multi-centre international study focusing on neurological manifestations of the largest cohort of Lesch–Nyhan disease variants evaluated to date, with 46 patients from 3 to 65 years of age coming from 34 families. All had evidence for overproduction of uric acid. Motor abnormalities were evident in 42 (91%), ranging from subtle clumsiness to severely disabling generalized dystonia. Cognitive function was affected in 31 (67%) but it was never severe. Though none exhibited self-injurious behaviours, many exhibited behaviours that were maladaptive. Only three patients had no evidence of neurological dysfunction. Our results were compared with a comprehensive review of 78 prior reports describing a total of 127 Lesch–Nyhan disease variants. Together these results define the spectrum of clinical features associated with hypoxanthine–guanine phosphoribosyltransferase deficiency. At one end of the spectrum are patients with classic Lesch–Nyhan disease and the full clinical phenotype. At the other end of the spectrum are patients with overproduction of uric acid but no apparent neurological or behavioural deficits. Inbetween are patients with varying degrees of motor, cognitive, or behavioural abnormalities. Recognition of this spectrum is valuable for understanding the pathogenesis and diagnosis of all forms of hypoxanthine–guanine phosphoribosyltransferase deficiency. PMID:20176575

Robust logistic regression to narrow down the winner's curse for rare and recessive susceptibility variants.

PubMed

Kesselmeier, Miriam; Lorenzo Bermejo, Justo

2017-11-01

Logistic regression is the most common technique used for genetic case-control association studies. A disadvantage of standard maximum likelihood estimators of the genotype relative risk (GRR) is their strong dependence on outlier subjects, for example, patients diagnosed at unusually young age. Robust methods are available to constrain outlier influence, but they are scarcely used in genetic studies. This article provides a non-intimidating introduction to robust logistic regression, and investigates its benefits and limitations in genetic association studies. We applied the bounded Huber and extended the R package 'robustbase' with the re-descending Hampel functions to down-weight outlier influence. Computer simulations were carried out to assess the type I error rate, mean squared error (MSE) and statistical power according to major characteristics of the genetic study and investigated markers. Simulations were complemented with the analysis of real data. Both standard and robust estimation controlled type I error rates. Standard logistic regression showed the highest power but standard GRR estimates also showed the largest bias and MSE, in particular for associated rare and recessive variants. For illustration, a recessive variant with a true GRR=6.32 and a minor allele frequency=0.05 investigated in a 1000 case/1000 control study by standard logistic regression resulted in power=0.60 and MSE=16.5. The corresponding figures for Huber-based estimation were power=0.51 and MSE=0.53. Overall, Hampel- and Huber-based GRR estimates did not differ much. Robust logistic regression may represent a valuable alternative to standard maximum likelihood estimation when the focus lies on risk prediction rather than identification of susceptibility variants. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Clinical Significance of an Unusual Variation

PubMed Central

Murugan, M. Senthil; Sudha, R.; Bhargavan, Rajesh

2016-01-01

The infrahyoid muscles are involved in vocalisation and swallowing; among these, the sternothyroid muscle is derived from the common primitive sheet. The improper differentiation of this muscle may therefore result in morphological variations. We report an unusual variation found during the dissection of a 65-year-old male cadaver at the Sri Manakula Vinayagar Medical College, Madagadipet, Pondicherry, India, in 2015. An anomalous belly of the right sternothyroid muscle was observed between the internal jugular (IJ) vein and the internal carotid artery with an additional insertion into the tympanic plate and petrous part of the temporal bone and the presence of a levator glandulae thyroideae muscle. The anomalous muscle may compress the IJ vein if it is related to the neurovascular structures of neck; hence, knowledge of variations of the infrahyoid muscles can aid in the evaluation of IJ vein compression among patients with idiopathic symptoms resulting from venous congestion. PMID:28003898

Unusual intraosseous fossilized soft tissues from the Middle Triassic Nothosaurus bone

NASA Astrophysics Data System (ADS)

Surmik, Dawid; Rothschild, Bruce M.; Pawlicki, Roman

2017-04-01

Fossilized soft tissues, occasionally found together with skeletal remains, provide insights to the physiology and functional morphology of extinct organisms. Herein, we present unusual fossilized structures from the cortical region of bone identified in isolated skeletal remains of Middle Triassic nothosaurs from Upper Silesia, Poland. The ribbed or annuli-shaped structures have been found in a sample of partially demineralized coracoid and are interpreted as either giant red blood cells or as blood vessel walls. The most probable function is reinforcing the blood vessels from changes of nitrogen pressure in air-breathing diving reptiles. These structures seem to have been built of extensible muscle layers which prevent the vessel damage during rapid ascent. Such suspected function presented here is parsimonious with results of previous studies, which indicate rarity of the pathological modification of bones associated with decompression syndrome in Middle Triassic nothosaurs.

Sometimes two arms are enough--an unusual life-stage in brittle stars (Echinodermata: Ophiuroidea).

PubMed

Stöhr, Sabine; Alme, Øydis

2015-08-03

Off West Africa (Angola-Morocco), benthos samples were collected in the years 2005-2012. These contained 124 specimens of brittle stars with two long arms and three extremely short or absent arms and an elongated, narrow disc. These unusual brittle stars, as well as 33 specimens with five fully developed arms, were identified as Amphiura ungulata. The specimens with unequal arms were juvenile stages, whereas adults had five equal arms. The large number of specimens with unequal arms suggests that this condition is not the result of damage and regeneration, but a normal growth pattern in this species. This study documents the morphology by SEM, amends the species description, and discusses possible explanations for the evolution of this condition. Although brittle star species with unequal arm growth have been reported, this is an extreme case that was unknown before this study.

An unusual new species of paguroid (Crustacea, Anomura, Paguridae) from deep waters of the Gulf of Mexico

PubMed Central

Lemaitre, Rafael; Vázquez-Bader, Ana Rosa; Gracia, Adolfo

2014-01-01

Abstract A new hermit crab species of the family Paguridae, Tomopaguropsis ahkinpechensis sp. n., is described from deep waters (780–827 m) of the Gulf of Mexico. This is the second species of Tomopaguropsis known from the western Atlantic, and the fifth worldwide. The new species is morphologically most similar to a species from Indonesia, Tomopaguropsis crinita McLaughlin, 1997, the two having ocular peduncles that diminish in width distally, reduced corneas, dense cheliped setation, and males lacking paired pleopods 1. The calcified figs on the branchiostegite and anterodorsally on the posterior carapace, and the calcified first pleonal somite that is not fused to the last thoracic somite, are unusual paguroid characters. A discussion of the affinities and characters that define this new species is included, along with a key to all five species of Tomopaguropsis. PMID:25408613

Unusual planned complex suicide committed with a muzzle-loading pistol in combination with subsequent hanging.

PubMed

Ondruschka, Benjamin; Morgenthal, Sylvia; Dreβler, Jan; Bayer, Ronny

2016-11-01

In Germany, suicides by firearms are not very common in contrast to deaths by hanging and intoxications. The use of historical muzzle-loading firearms in the context of suicides is a rarity. Contact shots from muzzle loaders cause an unusual wound morphology with extensive soot soiling. We report the case of a 59-year-old man, who committed a planned complex suicide by shooting into his mouth with a replica percussion gun in combination with hanging. The gunshot injury showed strong explosive effects in the oral cavity with fractures of the facial bones and the skull associated with cerebral evisceration (so-called Krönlein shot). Due to the special constellation of the case with hanging immediately after the shot, external bleeding from the head injuries was only moderate. Therefore, the head injuries could be assessed and partially reconstructed already at the scene.

Report of a Rare Case: A Maxillary First Molar with Seven Canals Confirmed with Cone-Beam Computed Tomography

PubMed Central

Kumar, Rahul

2014-01-01

Introduction: Coronal anatomic variations in permanent maxillary molars are unusual; conversely variations involving the number of root canals or number of roots are more common. Methods and Materials: This case report presents a successful nonsurgical endodontic therapy of left maxillary first molar with three roots and seven root canals. This unusual morphology was diagnosed using a dental operating microscope (DOM) and confirmed with the help of cone-beam computed tomography (CBCT) images. Results: CBCT axial images showed that both of the palatal and distobuccal roots had Vertucci type II canal pattern, whereas the mesiobuccal root canal showed a Sert and Bayirli’s type XV configuration. Conclusion: The use of a DOM and CBCT imaging in endodontically challenging cases can facilitate a better understanding of the complex root canal anatomy, which ultimately enables the clinician to explore the root canal system, and therefore treat it far more efficiently. PMID:24688587

Unusual polarity-dependent patterns in a bent-core nematic liquid crystal under low-frequency ac field.

PubMed

Xiang, Ying; Zhou, Meng-jie; Xu, Ming-Ya; Salamon, Péter; Éber, Nándor; Buka, Ágnes

2015-04-01

Electric-field-induced patterns of diverse morphology have been observed over a wide frequency range in a recently synthesized bent-core nematic (BCN) liquid crystal. At low frequencies (up to ∼25 Hz), the BCN exhibited unusual polarity-dependent patterns. When the amplitude of the ac field was enhanced, these two time-asymmetrical patterns turned into time-symmetrical prewavylike stripes. At ac frequencies in the middle-frequency range (∼50-3000 Hz), zigzag patterns were detected whose obliqueness varied with the frequency. Finally, if the frequency was increased above 3 kHz, the zigzag pattern was replaced by another, prewavylike pattern, whose threshold voltage depended on the frequency; however, the wave vector did not. For a more complete characterization, material parameters such as elastic constants, dielectric permittivities, and the anisotropy of the diamagnetic susceptibility were also determined.

Species delimitation in northern European water scavenger beetles of the genus Hydrobius (Coleoptera, Hydrophilidae)

PubMed Central

Fossen, Erlend I.; Ekrem, Torbjørn; Nilsson, Anders N.; Bergsten, Johannes

2016-01-01

Abstract The chiefly Holarctic Hydrobius species complex (Coleoptera, Hydrophilidae) currently consists of Hydrobius arcticus Kuwert, 1890, and three morphological variants of Hydrobius fuscipes (Linnaeus, 1758): var. fuscipes, var. rottenbergii and var. subrotundus in northern Europe. Here molecular and morphological data are used to test the species boundaries in this species complex. Three gene segments (COI, H3 and ITS2) were sequenced and analyzed with Bayesian methods to infer phylogenetic relationships. The Generalized Mixed Yule Coalescent (GMYC) model and two versions of the Bayesian species delimitation method BPP, with or without an a priori defined guide tree (v2.2 & v3.0), were used to evaluate species limits. External and male genital characters of primarily Fennoscandian specimens were measured and statistically analyzed to test for significant differences in quantitative morphological characters. The four morphotypes formed separate genetic clusters on gene trees and were delimited as separate species by GMYC and by both versions of BPP, despite specimens of Hydrobius fuscipes var. fuscipes and Hydrobius fuscipes var. subrotundus being sympatric. Hydrobius arcticus and Hydrobius fuscipes var. rottenbergii could only be separated genetically with ITS2, and were delimited statistically with GMYC on ITS2 and with BPP on the combined data. In addition, six or seven potentially cryptic species of the Hydrobius fuscipes complex from regions outside northern Europe were delimited genetically. Although some overlap was found, the mean values of six male genital characters were significantly different between the morphotypes (p < 0.001). Morphological characters previously presumed to be diagnostic were less reliable to separate Hydrobius fuscipes var. fuscipes from Hydrobius fuscipes var. subrotundus, but characters in the literature for Hydrobius arcticus and Hydrobius fuscipes var. rottenbergii were diagnostic. Overall, morphological and molecular evidence strongly suggest that Hydrobius arcticus and the three morphological variants of Hydrobius fuscipes are separate species and Hydrobius rottenbergii Gerhardt, 1872, stat. n. and Hydrobius subrotundus Stephens, 1829, stat. n. are elevated to valid species. An identification key to northern European species of Hydrobius is provided. PMID:27081333

ZBTB16-RARα variant of acute promyelocytic leukemia with tuberculosis: a case report and review of literature.

PubMed

Palta, Anshu; Dhiman, Pratibha; Cruz, Sanjay D

2012-09-01

A 23-year-old male presented with pulmonary tuberculosis and swelling of both lower limbs. He was put on antitubercular treatment. Hemogram showed mild anemia and Pseudo Pelger-huet cells. The bone marrow (BM) examination showed 52% promyelocytes with regular round to oval nuclei, few granules and were positive for CD13 and CD33, and negative for HLA-DR. Cytogenetic analysis of the BM aspirate revealed an apparently balanced t(11;17)(q23;q21). Final diagnosis rendered was acute promyelocytic leukemia (APL) with t(11;17)(q23;q21); ZBTB16/RARA. APL is a distinct subtype of acute myeloid leukemia. The variant APL with t(11;17)(q23;q21) cases that are associated with the ZBTB16/RARA fusion gene have been reported as being resistant to all-trans-retinoic acid (ATRA). Therefore, differential diagnosis of variant APL with t(11;17)(q23;q12) from classical APL with t(15;17)(q22;q12); PML-RARA is very important. Here we have discussed the importance of distinct morphology of variant APL and also significance of rare presentation with tuberculosis.

Studies on a morphologically distinct colchicine-resistance variant of Entamoeba sp.

PubMed

Injeyan, H; Huebner, E; Meerovitch, E

1979-05-01

Colchicine has a temperature-dependent cytotoxic effect on Entamoeba sp. (Laredo isolate) that is most apparent when the drug is applied during the initiation of cultures at a concentration of 7.5 mM or higher. Continued transfer of cultures in medium containing progressively increasing concentrations of colchicine has resulted in a variant that grows prolifically in the presence of colchicine (7.5 mM) with a generation time comparable to that of the parent stock, Comparison of a number of parameters of the 2 variants revealed that colchicine resistance was accompanied by a change in cell shape, a reduced membrane permeability, which could partially be overcome by the addition of dimethyl sulfoxide (DMSO), and a reduced tolerance to osmotic stress. However, the parent strain and resistant variant were equally susceptible to cycloheximide and puromycin suggesting that the acquired colchicine resistance may not be explained on the basis of an entirely unspecific generalized reduced ability for drug uptake. Colchicine resistance and altered structure were found to be stable over a long period of time. The possible interdependence of these 2 parameters and their relation to cell motility in Entamoeba sp. are discussed.

Pig StAR: mRNA expression and alternative splicing in testis and Leydig cells, and association analyses with testicular morphology traits.

PubMed

Zhang, Yanghai; Cui, Yang; Zhang, Xuelian; Wang, Yimin; Gao, Jiayang; Yu, Ting; Lv, Xiaoyan; Pan, Chuanying

2018-05-31

Steroidogenic acute regulatory protein (StAR), primarily expressed in Leydig cells (LCs) in the mammalian testes, is essential for testosterone biosynthesis and male fertility. However, no previous reports have explored the expression profiles, alternative splicing and genetic variations of StAR gene in pig. The aim of current study was to explore the expression profiles in different tissues and different types of testicular cells (LCs; spermatogonial stem cells, SSCs; Sertoli cells, SCs), to identify different splice variants and their expression levels, as well as to detect the indel polymorphism in pig StAR gene. Expression analysis results revealed that StAR was widely expressed in all tested tissues and the expression level in testis was significantly higher than that in other tissues (P < 0.01); among different types of testicular cells, the StAR mRNA expression level was significantly higher in LCs than others (P < 0.05). Furthermore, three splice variants, StAR-a, StAR-b and StAR-c, were first found in pig. Further study showed StAR-a was highly expressed in both testis and LCs when compared with other variants (P < 0.01), suggesting StAR-a was the primary variant at StAR gene post-transcription and may facilitate the combination and transportation of cholesterol with StAR. In addition, a 5-bp duplicated deletion (NC_010457.5:g.5524-5528 delACTTG) was verified in the porcine StAR gene, which was closely related to male testicular morphology traits (P < 0.05), and we speculated that the allele "D" of StAR gene might be a positive allele. Briefly, the current findings suggest that StAR and StAR-a play imperative roles in male fertility and the 5-bp indel can be a potential DNA marker for the marker-assisted selection in boar. Copyright © 2018 Elsevier Inc. All rights reserved.

Renal cell carcinoma in children and young adults: analysis of clinicopathological, immunohistochemical and molecular characteristics with an emphasis on the spectrum of Xp11.2 translocation-associated and unusual clear cell subtypes.

PubMed

Wu, A; Kunju, L P; Cheng, L; Shah, R B

2008-11-01

Recent studies suggest that paediatric renal cell carcinoma (RCC) may represent a distinct group of tumours; however, its biological behaviour and classification remain poorly understood. The aim was to analyse 13 RCCs from patients < or =23 years of age to determine their clinicopathological, immunohistochemical and molecular characteristics. The histological spectrum included: Xp11.2 translocation-associated (6/13 patients, 46%), clear cell (5/13 patients, 38%), papillary (1/13 patients) and unclassified (1/13 patients) types. The Xp11.2 translocation-associated RCCs had a wide morphological spectrum, with high nuclear grade cells with abundant cytoplasm ranging from clear to granular and architecture ranging from solid to papillary. These tumours lacked cytokeratin expression and were confirmed by nuclear reactivity for TFE3 protein. Most of these translocation-associated tumours presented at high stage and had an unfavourable outcome. Three clear cell RCCs had unusual features that have not been previously characterized, including solid and cystic architecture, cells with abundant eosinophilic cytoplasm yet low nuclear grade and focal cytoplasmic inclusions, resembling oncocytoma. Deletion of subtelomeric 3p25 was observed in two of these RCCs. Xp11.2 translocation-associated RCC represents a predominant and aggressive subtype in the paediatric age group. Increased awareness of this subtype is important due to its heterogeneous morphology.

The Mystery of ASASSN-15lh

NASA Astrophysics Data System (ADS)

Fruchter, Andrew; van Velzen, Sjoert

2018-01-01

ASASSN-15lh is the most luminous optical transient ever detected; yet, its nature is unclear. It was first thought to be a supernova. However, its host shows little sign of star formation, and the transient has remained a hot thermal source for two years, making a supernova origin seem less likely. Alternatively, ASSASN-15lh may be a flare caused by the tidal disruption of a star by a supermassive black hole. However, this model is also far from an easy fit. The luminosity of the host’s bulge implies a black hole mass so large that a star would almost certainly be swallowed before disrupted, unless the the black hole is spinning near maximally. Furthermore, the double-humped shape of the light curve seen in the UV is highly unusual for a tidal disruption flare (TDF). Here we present reanalysis of HST archival images of the ASASSN-15lh and its host. We show that the host has highly unusual morphological features that are only reasonably explained by a substantial merger. A merger can greatly increase the rate of TDFs through perturbation of stellar orbits, the introduction and/or formation of new stars near the central black hole, or even the addition of a second massive black hole to the core of the galaxy. The disturbed morphology of the host thus supports the TDF explanation of ASASSN-15lh.

Comparative transcriptome analysis of three color variants of the sea cucumber Apostichopus japonicus.

PubMed

Jo, Jihoon; Park, Jongsun; Lee, Hyun-Gwan; Kern, Elizabeth M A; Cheon, Seongmin; Jin, Soyeong; Park, Joong-Ki; Cho, Sung-Jin; Park, Chungoo

2016-08-01

The sea cucumber Apostichopus japonicus Selenka 1867 represents an important resource in biomedical research, traditional medicine, and the seafood industry. Much of the commercial value of A. japonicus is determined by dorsal/ventral color variation (red, green, and black), yet the taxonomic relationships between these color variants are not clearly understood. We performed the first comparative analysis of de novo assembled transcriptome data from three color variants of A. japonicus. Using the Illumina platform, we sequenced nearly 177,596,774 clean reads representing a total of 18.2Gbp of sea cucumber transcriptome. A comparison of over 0.3 million transcript scaffolds against the Uniprot/Swiss-Prot database yielded 8513, 8602, and 8588 positive matches for green, red, and black body color transcriptomes, respectively. Using the Panther gene classification system, we assessed an extensive and diverse set of expressed genes in three color variants and found that (1) among the three color variants of A. japonicus, genes associated with RNA binding protein, oxidoreductase, nucleic acid binding, transferase, and KRAB box transcription factor were most commonly expressed; and (2) the main protein functional classes are differently regulated in all three color variants (extracellular matrix protein and phosphatase for green color, transporter and potassium channel for red color, and G-protein modulator and enzyme modulator for black color). This work will assist in the discovery and annotation of novel genes that play significant morphological and physiological roles in color variants of A. japonicus, and these sequence data will provide a useful set of resources for the rapidly growing sea cucumber aquaculture industry. Copyright © 2016 Elsevier B.V. All rights reserved.

Neuronal morphology in the lateral geniculate nucleus of the porpoise (Phocoena phocoena).

PubMed

Revishchin, A V; Garey, L J

1993-01-01

The Golgi and Nissl methods and cytochrome oxidase (CO) histochemistry were used to study the overall structure and neuronal morphology of the lateral geniculate nucleus (LGN) of the Black Sea porpoise (Phocoena phocoena). Differences were observed between dorsal and ventral portions of the nucleus in terms of cell size and CO staining. In addition to prominent fibre bundles crossing the LGN horizontally, vertically oriented variations of CO staining were apparent. Neuronal types in the LGN corresponded broadly to those observed in land mammals. The commonest were variants of multipolar cells, and may represent thalamocortical relay cells. Various other types were probably interneuronal.

Pigmented and hyperkeratotic napkin dermatitis: a liquid detergent irritant dermatitis.

PubMed

Patrizi, A; Neri, I; Marzaduri, S; Fiorillo, L

1996-01-01

Napkin or diaper dermatitis (DD) is an inflammatory cutaneous eruption limited to the diaper area and common in the first 2 years of life. A number of clinical variants of DD have been identified. We report a new variant of DD characterized by papyraceous skin, brownish discoloration and predilection for the depth of folds. 15 infants and toddlers affected by this peculiar type of DD were evaluated regarding duration, localization, morphology and evolution of their dermatosis. This variant of DD was mainly confined to the depth of inguinal and gluteal folds and invariably associated with severe xerosis with papyraceous and glazed skin. The patients were healthy and asymptomatic and all laboratory investigations performed were normal. All patients were frequently changed and thoroughly washed with synthetic detergents with acid pH. DD improved rapidly with reduced frequency of washing and discontinuation of liquid detergents. We conclude that this condition is a type of irritant contact dermatitis from excessive use of lipid acid detergents.

Upregulation of the splice variant MUC4/Y in the pancreatic cancer cell line MIA PaCa-2 potentiates proliferation and suppresses apoptosis: new insight into the presence of the transcript variant of MUC4.

PubMed

Xie, Kunling; Zhi, Xiaofei; Tang, Jie; Zhu, Yi; Zhang, Jingjing; Li, Zheng; Tao, Jinqiu; Xu, Zekuan

2014-05-01

MUC4/Y, the transcript variant 4 of MUC4, lacks exon 2 as compared with the transcript variant 1 of MUC4. To date, direct evidence for the function of MU4/Y remains to be reported. Previous studies based their hypotheses regarding the function of MUC4/Y on the characteristic structure domains of this variant. The aim of the present study was to investigate the specific function of MUC4/Y. The pancreatic cancer cell line MIA PaCa-2 with low MUC4/Y expression was used to establish a stable cell model of MUC4/Y upregulation using a lentivirus vector system. Results showed that MUC4/Y anchored on the cytomembrane and affected cell morphology and cell cycle. Functional analyses indicated that MUC4/Y upregulation slightly potentiated cell proliferation and significantly suppressed apoptosis both in vivo and in vitro. Further studies revealed that the JNK and AKT signalling pathways were activated. Meanwhile, MUC4/Y upregulation elicited minimal effect on the phosphorylation level of HER2, a membrane partner of MUC4. These results suggest that MUC4/Y promotes tumour progression through its anti-apoptotic and weak mitogenic effect on MIA PaCa-2 cells.

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

PubMed

Kernohan, Kristin D; Grynspan, David; Ramphal, Raveena; Bareke, Eric; Wang, You Chang; Nizalik, Elizabeth; Ragoussis, Jiannis; Jabado, Nada; Boycott, Kym M; Majewski, Jacek; Sawyer, Sarah L

2017-12-01

We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants. © 2017 Wiley Periodicals, Inc.

Simultaneous Occurrence of Balanoposthitis Circumscripta Plasmacellularis Zoon, Phimosis and in Situ Carcinoma of the Penis: Case Report with An Unusual Ulcerated Polypoid Variant of Zoon's Disease and a Carcinoma in Situ of Reserve Cell Type.

PubMed

Wollina, Uwe; Schönlebe, Jacqueline; Goldman, Alberto; Tchernev, Georgi; Lotti, Torello

2018-01-25

Zoon's balanitis is a benign disease characterized by an asymptomatic, chronic, solitary, shiny, red-orange plaque of the glans and/ or prepuce. In rare cases of Zoon's disease, penile squamous cell carcinoma developed in the chronic inflammatory lesions. We report on a 68-year-old male patient presenting with phimosis and coexistent Zoon's disease and penile carcinoma in situ treated successfully by circumcision. Coexistence of both lesions in contrast to the development of cancerous lesions within pre-existent Zoon's disease is a very rare observation.

Facing the challenges of ventricular hypertrophy: the eyes don't lie.

PubMed

Rodrigues, Patrícia; Santos, Mário; Marinho, António; Cabral, Sofia; Vieira, Miguel; Reis, Hipólito; Palma, Paulo; Torres, Severo

2014-10-01

We describe the case of a 47-year-old man with new-onset heart failure who was found to have severe biventricular wall thickening. We present comprehensive data from invasive and non-invasive multimodality imaging, genetic and histologic tests, and briefly describe their importance in the final diagnosis. To our knowledge, this is the first case of the Portuguese variant of familial amyloid polyneuropathy presenting with heart failure in the fifth decade of life. This is an unusual case report, but also an illustration of how to approach any patient with suspected infiltrative cardiomyopathy. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Genetically distinct colour morphs of European perch Perca fluviatilis in Lake Constance differ in susceptibility to macroparasites.

PubMed

Roch, S; Behrmann-Godel, J; Brinker, A

2015-01-21

The unusual yellow-finned morph of European perch Perca fluviatilis found in Lake Constance suffers more severely from macroparasite infections, including the tapeworm Triaenophorus nodulosus and the gill worm Ancyrocephalus percae, than conspecifics elsewhere. Microsatellite analysis of yellow-finned P. fluviatilis and red-finned variant recently discovered in Lake Constance revealed significant genetic differentiation. Red-finned P. fluviatilis and fish with mixed fin colour, suggested backcrosses between red and yellow-finned colour morphs, exhibit better resilience to parasite infection, suggesting that the inability of the yellow-finned morph to reject macroparasites may have a genetic basis. © 2015 The Fisheries Society of the British Isles.

Are osseous artefacts a window to perishable material culture? Implications of an unusually complex bone tool from the Late Pleistocene of East Timor.

PubMed

O'Connor, S; Robertson, G; Aplin, K P

2014-02-01

We report the discovery of an unusually complex and regionally unique bone artefact in a Late Pleistocene archaeological assemblage (c. 35 ka [thousands of years ago]) from the site of Matja Kuru 2 on the island of Timor, in Wallacea. The artefact is interpreted as the broken butt of a formerly hafted projectile point, and it preserves evidence of a complex hafting mechanism including insertion into a shaped or split shaft, a complex pattern of binding including lateral stabilization of the cordage within a bilateral series of notches, and the application of mastic at several stages in the hafting process. The artefact provides the earliest direct evidence for the use of this combination of hafting technologies in the wider region of Southeast Asia, Wallacea, Melanesia and Australasia, and is morphologically unparallelled in deposits of any age. By contrast, it bears a close morphological resemblance to certain bone artefacts from the Middle Stone Age of Africa and South Asia. Examination of ethnographic projectile technology from the region of Melanesia and Australasia shows that all of the technological elements observed in the Matja Kuru 2 artefact were in use historically in the region, including the unusual feature of bilateral notching to stabilize a hafted point. This artefact challenges the notion that complex bone-working and hafting technologies were a relatively late innovation in this part of the world. Moreover, its regional uniqueness encourages us to abandon the perception of bone artefacts as a discrete class of material culture, and to adopt a new interpretative framework in which they are treated as manifestations of a more general class of artefacts that more typically were produced on perishable raw materials including wood. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

Synthesis of barium and strontium carbonate crystals with unusual morphologies using an organic additive

NASA Astrophysics Data System (ADS)

Chen, Long; Jiang, Jizhong; Bao, Zuben; Pan, Jian; Xu, Weibing; Zhou, Lili; Wu, Zhigang; Chen, Xu

2013-12-01

In this paper, strontium carbonate (SrCO3) and barium carbonate (BaCO3) crystals were synthesized in the presence of an organic additive-hexamethylenetetramine (HMT) using two CO2 sources. Scanning electron microscopy and X-ray powder diffractometry were used to characterize the products. The results showed that the morphologies of orthorhombic strontianite SrCO3 transformed from branch-like to flower-like, and to capsicum-like at last, while the morphologies of BaCO3 change from fiber-like to branchlike, and to rod-like finally with an increase of the molar ratio HMT/Sr2+ and HMT/Ba2+ from 0.2 to 10 using ammonium carbonate as CO2 source. When using diethyl carbonate instead of ammonium carbonate as CO2 source, SrCO3 flowers aggregated by rods and BaCO3 shuttles were formed. The possible formation mechanisms of SrCO3 and BaCO3 crystals obtained in different conditions were also discussed.

Morphological Indicators of a Mascon Beneath Ceres's Largest Crater, Kerwan

NASA Astrophysics Data System (ADS)

Bland, M. T.; Ermakov, A. I.; Raymond, C. A.; Williams, D. A.; Bowling, T. J.; Preusker, F.; Park, R. S.; Marchi, S.; Castillo-Rogez, J. C.; Fu, R. R.; Russell, C. T.

2018-02-01

Gravity data of Ceres returned by the National Aeronautics and Space Administration's Dawn spacecraft is consistent with a lower density crust of variable thickness overlying a higher density mantle. Crustal thickness variations can affect the long-term, postimpact modification of impact craters on Ceres. Here we show that the unusual morphology of the 280 km diameter crater Kerwan may result from viscous relaxation in an outer layer that thins substantially beneath the crater floor. We propose that such a structure is consistent with either impact-induced uplift of the high-density mantle beneath the crater or from volatile loss during the impact event. In either case, the subsurface structure inferred from the crater morphology is superisostatic, and the mass excess would result in a positive Bouguer anomaly beneath the crater, consistent with the highest-degree gravity data from Dawn. Ceres joins the Moon, Mars, and Mercury in having basin-associated gravity anomalies, although their origin may differ substantially.

Morphological indicators of a mascon beneath Ceres' largest crater, Kerwan

USGS Publications Warehouse

Bland, Michael T.; Ermakov, Anton; Raymond, Carol A.; Williams, David A.; Bowling, Tim J.; Preusker, F.; Park, Ryan S.; Marchi, Simone; Castillo-Rogez, Julie C.; Fu, R.R.; Russell, Christopher T.

2018-01-01

Gravity data of Ceres returned by the National Aeronautics and Space Administration's Dawn spacecraft is consistent with a lower density crust of variable thickness overlying a higher density mantle. Crustal thickness variations can affect the long‐term, postimpact modification of impact craters on Ceres. Here we show that the unusual morphology of the 280 km diameter crater Kerwan may result from viscous relaxation in an outer layer that thins substantially beneath the crater floor. We propose that such a structure is consistent with either impact‐induced uplift of the high‐density mantle beneath the crater or from volatile loss during the impact event. In either case, the subsurface structure inferred from the crater morphology is superisostatic, and the mass excess would result in a positive Bouguer anomaly beneath the crater, consistent with the highest‐degree gravity data from Dawn. Ceres joins the Moon, Mars, and Mercury in having basin‐associated gravity anomalies, although their origin may differ substantially.

Postchemotherapy changes in testicular germ cell tumours: biology and morphology.

PubMed

Berney, Daniel M; Lu, Yong-Jie; Shamash, Jonathan; Idrees, Muhammad

2017-01-01

Advances in modern chemotherapy and targeted treatments have resulted in lengthened survival in a variety of tumour types in the last decade. Increasingly in the 21st century, postchemotherapy resections are considered as a possible mode of treatment. Due to their exquisite chemosensitivity, resection of postchemotherapy masses has long been part of the armamentarium of treatment in testicular germ cell neoplasia, which has resulted in a variety of new morphological variants being described after treatment. Here we discuss the possible reasons for germ cell tumour chemosensitivity and hypotheses on the biological pathways leading to resistance to treatment, as well as an outline of the diverse morphology of those tumours which prove recalcitrant to standard treatment methods. The large range of morphologies and their diagnostic challenges may throw light upon the future problems to be encountered in non-germ cell solid tumour pathology, as the resection of postchemotherapy masses becomes increasingly important in patient management. © 2016 John Wiley & Sons Ltd.

Homoplasious colony morphology and mito-nuclear phylogenetic discordance among Eastern Pacific octocorals.

PubMed

Ament-Velásquez, Sandra L; Breedy, Odalisca; Cortés, Jorge; Guzman, Hector M; Wörheide, Gert; Vargas, Sergio

2016-05-01

Octocorals are a diverse and ecologically important group of cnidarians. However, the phylogenetic relationships of many octocoral groups are not well understood and are based mostly on mitochondrial sequence data. In addition, the discovery and description of new gorgonian species displaying unusual or intermediate morphologies and uncertain phylogenetic affinities further complicates the study of octocoral systematics and raises questions about the role played by processes such as plasticity, crypsis, and convergence in the evolution of this group of organisms. Here, we use nuclear (i.e. 28S rDNA) and mitochondrial (mtMutS) markers and a sample of Eastern Pacific gorgonians thought to be remarkable from a morphological point of view to shed light on the morphological diversification among these organisms. Our study reveals the loss of the anastomosed colony morphology in two unrelated lineages of the seafan genus Pacifigorgia and offers strong evidence for the independent evolution of a whip-like morphology in two lineages of Eastern Pacific Leptogorgia. Additionally, our data revealed one instance of mito-nuclear discordance in the genera Leptogorgia and Eugorgia, which may be the results of incomplete lineage sorting or ancient hybridization-introgression events. Our study stresses the importance of comprehensive taxonomic sampling and the use of independent sources of evidence to address the phylogenetic relationships and clarifying the evolution of octocorals. Copyright © 2016 Elsevier Inc. All rights reserved.

Multiunit Sequences in First Language Acquisition.

PubMed

Theakston, Anna; Lieven, Elena

2017-07-01

Theoretical and empirical reasons suggest that children build their language not only out of individual words but also out of multiunit strings. These are the basis for the development of schemas containing slots. The slots are putative categories that build in abstraction while the schemas eventually connect to other schemas in terms of both meaning and form. Evidence comes from the nature of the input, the ways in which children construct novel utterances, the systematic errors that children make, and the computational modeling of children's grammars. However, much of this research is on English, which is unusual in its rigid word order and impoverished inflectional morphology. We summarize these results and explore their implications for languages with more flexible word order and/or much richer inflectional morphology. Copyright © 2017 Cognitive Science Society, Inc.

Supernova Remnant Evolving in Wind-Blown Bubbles: A Case Study of Kes 27

NASA Astrophysics Data System (ADS)

Li, Jiangtao

2013-10-01

Mixed-morphology (MM) SNRs represent SN explosion in wind-blown bubbles. They are thus good places to study the interaction between massive stellar winds, SNRs, and the surrounding ISM. We propose a 50ks XMM-Newton observation of a peculiar MM SNR, Kes 27. We will map out the spectral parameters in tessellated meshes and construct EW maps of some emission lines with our newly developed spatially-resolved spectroscopy method. These analyses will help us to understand the unusual properties of this MM SNR, such as the X-ray bright outer shell, shell-like interior, and strong NE-SW asymmetry in morphology. We will also search for evidence of over-ionization state plasma and coherent X-ray features associated with the shell of the HI cavity.

Carbohydrate Metabolism in Archaea: Current Insights into Unusual Enzymes and Pathways and Their Regulation

PubMed Central

Esser, Dominik; Rauch, Bernadette

2014-01-01

SUMMARY The metabolism of Archaea, the third domain of life, resembles in its complexity those of Bacteria and lower Eukarya. However, this metabolic complexity in Archaea is accompanied by the absence of many “classical” pathways, particularly in central carbohydrate metabolism. Instead, Archaea are characterized by the presence of unique, modified variants of classical pathways such as the Embden-Meyerhof-Parnas (EMP) pathway and the Entner-Doudoroff (ED) pathway. The pentose phosphate pathway is only partly present (if at all), and pentose degradation also significantly differs from that known for bacterial model organisms. These modifications are accompanied by the invention of “new,” unusual enzymes which cause fundamental consequences for the underlying regulatory principles, and classical allosteric regulation sites well established in Bacteria and Eukarya are lost. The aim of this review is to present the current understanding of central carbohydrate metabolic pathways and their regulation in Archaea. In order to give an overview of their complexity, pathway modifications are discussed with respect to unusual archaeal biocatalysts, their structural and mechanistic characteristics, and their regulatory properties in comparison to their classic counterparts from Bacteria and Eukarya. Furthermore, an overview focusing on hexose metabolic, i.e., glycolytic as well as gluconeogenic, pathways identified in archaeal model organisms is given. Their energy gain is discussed, and new insights into different levels of regulation that have been observed so far, including the transcript and protein levels (e.g., gene regulation, known transcription regulators, and posttranslational modification via reversible protein phosphorylation), are presented. PMID:24600042

Three-dimensional block copolymer nanostructures by the solvent-annealing-induced wetting in anodic aluminum oxide templates.

PubMed

Chu, Chiang-Jui; Chung, Pei-Yun; Chi, Mu-Huan; Kao, Yi-Huei; Chen, Jiun-Tai

2014-09-01

Block copolymers have been extensively studied over the last few decades because they can self-assemble into well-ordered nanoscale structures. The morphologies of block copolymers in confined geometries, however, are still not fully understood. In this work, the fabrication and morphologies of three-dimensional polystyrene-block-polydimethylsiloxane (PS-b-PDMS) nanostructures confined in the nanopores of anodic aluminum oxide (AAO) templates are studied. It is discovered that the block copolymers can wet the nanopores using a novel solvent-annealing-induced nanowetting in templates (SAINT) method. The unique advantage of this method is that the problem of thermal degradation can be avoided. In addition, the morphologies of PS-b-PDMS nanostructures can be controlled by changing the wetting conditions. Different solvents are used as the annealing solvent, including toluene, hexane, and a co-solvent of toluene and hexane. When the block copolymer wets the nanopores in toluene vapors, a perpendicular morphology is observed. When the block copolymer wets the nanopores in co-solvent vapors (toluene/hexane = 3:2), unusual circular and helical morphologies are obtained. These three-dimensional nanostructures can serve as naontemplates for refilling with other functional materials, such as Au, Ag, ZnO, and TiO2 . © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study.

PubMed

Litvinchuk, Tetiana; Tao, Yunxia; Singh, Ruchi; Vasylyeva, Tetyana L

2015-01-01

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85-90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10-15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases. A 17-year-old boy was followed up for bilateral cystic kidney disease, hypertension, and obesity since he was 13 years old. The diagnosis was an accidental finding during abdominal CT at age 13 to rule out appendicitis. A renal ultrasonogram also demonstrated a multiple bilateral cysts. Because of parental history of bilateral renal cysts, PKD1 and PKD2, genetic testing was ordered. Results showed, PKD2 variant 1:3 bp deletion of TGT; nucleotide position: 1602-1604; codon position: 512-513; mRNA reading frame maintained. The same mutation was later identified in his father. A smaller number of patients have a defect in the PKD2 locus on chromosome 4 (resulting in PKD2 disease). There are no known published cases on this familiar genetic variant of ADPKD-2 cystic kidney disease. In this case, the disease is present unusually early in life.

Vkorc1 sequencing suggests anticoagulant resistance in rats in New Zealand.

PubMed

Cowan, Phil E; Gleeson, Dianne M; Howitt, Robyn Lj; Ramón-Laca, Ana; Esther, Alexandra; Pelz, Hans-Joachim

2017-01-01

Anticoagulant toxins are used globally to control rats. Resistance of Rattus species to these toxins now occurs in at least 18 countries in Europe, America and Asia. Resistance is often associated with single nucleotide polymorphisms (SNPs) in the Vkorc1 gene. This study gives a first overview of the distribution and frequency of Vkorc1 SNPs in rats in New Zealand. New Zealand is unusual in having no native rodents but three species of introduced Rattus - norvegicus Berk., rattus L. and exulans Peale. Sequence variants occurred in at least one species of rat at all 30 of the sites sampled. Three new SNPs were identified, one in kiore and two in ship rats. No SNPs previously associated with resistance were found in Norway rats or kiore, but seven ship rats were heterozygous and one homozygous for the A74T variant. Its resultant Tyr25Phe mutation has previously been associated with resistance to both first- and second-generation anticoagulants in ship rats in Spain. This is the first evidence of potential resistance to anticoagulant toxins in rats in New Zealand. Further testing using blood clotting response times in dosed rats is needed to confirm resistance potentially conferred by the Tyr25Phe mutation. Assessment is also needed of the potential of the other non-synonymous variants (Ala14Val, Ala26Val) recorded in this study to confer resistance to anticoagulant toxins. © 2016 Society of Chemical Industry. © 2016 Society of Chemical Industry.

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

PubMed Central

Allingham, R. Rand; Whigham, Benjamin T.; Havens, Shane; Garrett, Melanie E.; Qiao, Chunyan; Katsanis, Nicholas; Wiggs, Janey L.; Pasquale, Louis R.; Ashley-Koch, Allison; Oh, Edwin C.; Hauser, Michael A.

2014-01-01

Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association between POAG and the SIX6 locus (rs10483727, odds ratio (OR) = 1.32, p = 3.87×10−11). SIX6 plays a role in ocular development and has been associated with the morphology of the optic nerve. We sequenced the SIX6 coding and regulatory regions in 262 POAG cases and 256 controls and identified six nonsynonymous coding variants, including five rare and one common variant, Asn141His (rs33912345), which was associated significantly with POAG (OR = 1.27, p = 4.2×10−10) in the NEIGHBOR/GLAUGEN datasets. These variants were tested in an in vivo Danio rerio (zebrafish) complementation assay to evaluate ocular metrics such as eye size and optic nerve structure. Five variants, found primarily in POAG cases, were hypomorphic or null, while the sixth variant, found only in controls, was benign. One variant in the SIX6 enhancer increased expression of SIX6 and disrupted its regulation. Finally, to our knowledge for the first time, we have identified a clinical feature in POAG patients that appears to be dependent upon SIX6 genotype: patients who are homozygous for the SIX6 risk allele (His141) have a statistically thinner retinal nerve fiber layer than patients homozygous for the SIX6 non-risk allele (Asn141). Our results, in combination with previous SIX6 work, lead us to hypothesize that SIX6 risk variants disrupt the development of the neural retina, leading to a reduced number of retinal ganglion cells, thereby increasing the risk of glaucoma-associated vision loss. PMID:24875647

Munchausen Syndrome as Dermatitis Simulata

PubMed Central

Hariharasubramony, Ambika; Chankramath, Sujatha; Srinivasa, Seema

2012-01-01

Psychiatric comorbidity is associated with many dermatological disorders. It may be the cause for skin problem or may be the effect of a skin problem as skin being a visual organ. A 28-year-old female presented with multiple red lesions on the skin with unusual morphology and was diagnosed as dermatitis simulata. She gave history of multiple episodes of similar illnesses with admissions in various hospitals and being evaluated and dropping off in between treatments. After detailed psychological evaluation, patient was diagnosed as case of Munchausen syndrome. PMID:22661819

The birdlike raptor Sinornithosaurus was venomous

PubMed Central

Gong, Enpu; Martin, Larry D.; Burnham, David A.; Falk, Amanda R.

2009-01-01

We suggest that some of the most avian dromaeosaurs, such as Sinornithosaurus, were venomous, and propose an ecological model for that taxon based on its unusual dentition and other cranial features including grooved teeth, a possible pocket for venom glands, and a groove leading from that pocket to the exposed bases of the teeth. These features are all analogous to the venomous morphology of lizards. Sinornithosaurus and related dromaeosaurs probably fed on the abundant birds of the Jehol forests during the Early Cretaceous in northeastern China. PMID:20080749

Gadigaleyrodes froggatti, a new genus and species of whitefly (Hemiptera: Aleyrodidae) from Australia.

PubMed

Dooley, John W; Gillespie, Peter

2013-01-17

A new monotypic genus of whiteflies (Aleyrodidae), Gadigaleyrodes gen.n., is described and illustrated for G. froggatti sp.n. from New South Wales, Australia. Specimens were collected by W. W. Froggatt in 1899 on Syncarpia glomulifera, and subsequently by P. S. Gillespie on an unknown climbing plant. The genus has unusual morphological features with traits common to both Aleurodicinae and Aleyrodinae. The subfamily placement is discussed, and a key provided to discriminate this taxon from similar whitefly genera in Australia.

A case of tick bite by a spontaneously retreated Ixodes nipponensis.

PubMed

Cho, B K; Nam, H W; Cho, S Y; Lee, W K

1995-09-01

A 58-year old housewife consulted us about 1 cm sized, dark-brownish, bean-like mass which was dropped spontaneously from indurated skin lesion on her abdomen. The mass was identified morphologically as an engorged female Ixodes nipponensis. Nine days earlier, she had an excursion collecting edible sprouts of wild grass. Spontaneous retreat has been unusual in clinical tick bites in Korea. Fourteen cases of tick bite described in the Korean literature were reviewed briefly in relation to Lyme borreliosis.

A case of Diphyllobothrium nihonkaiense infection successfully treated by oral administration of Gastrografin.

PubMed

Yoshida, M; Hasegawa, H; Takaoka, H; Miyata, A

1999-08-01

A diphyllobothriid cestode infection found in a 54-year-old male residing in Oita, Japan, was successfully treated by oral administration of Gastrografin in combination with a intramuscular injection of Vagostigmin. The strobila expelled was 6.14 m long with a scolex, and morphologically identical with Diphyllobothrium nihonkaiense except unusual ovaries of which posterior horns were confluent in each proglottid. This is the first case of treatment of cestode infection by oral administration of Gastrografin.

Metal cluster's effect on the optical properties of cesium bromide thin films

NASA Astrophysics Data System (ADS)

Kumar, Kuldeep; Arun, P.; Ravi Kant, Chhaya; Juluri, Bala Krishna

2012-06-01

Cesium bromide (CsBr) films grown on glass substrates by thermal evaporation showed prominent absorption peaks in the UV-visible region. Interestingly, these absorption spectra showed peaks which red shifted over time in ambient exposure. Structural and morphological studies suggested decrease in particle size overtime which was unusual. Electron micrographs show the formation of "daughter" cesium nanorods from parent CsBr particles. Theoretical calculations show the optical behavior observed to be due to localized surface plasmon resonance resulting from cesium nanorods.

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

PubMed Central

Mackey, D; Howell, N

1992-01-01

The Tas2 and Vic2 Australian families are affected with a variant of Leber hereditary optic neuropathy (LHON). The risk of developing the optic neuropathy shows strict maternal inheritance, and the ophthalmological changes in affected family members are characteristic of LHON. However, in contrast to the common form of the disease, members of these two families show a high frequency of vision recovery. To ascertain the mitochondrial genetic etiology of the LHON in these families, both (a) the the nucleotide sequences of the seven mitochondrial genes encoding subunits of respiratory-chain complex I and (b) the mitochondrial cytochrome b gene were determined for representatives of both families. Neither family carries any of the previously identified primary mitochondrial LHON mutations: ND4/11778, ND1/3460, or ND1/4160. Instead, both LHON families carry multiple nucleotide changes in the mitochondrial complex I genes, which produce conservative amino acid changes. From the available sequence data, it is inferred that the Vic2 and Tas2 LHON families are phylogenetically related to each other and to a cluster of LHON families in which mutations in the mitochondrial cytochrome b gene have been hypothesized to play a primary etiological role. However, sequencing analysis establishes that the Vic2 and Tas2 LHON families do not carry these cytochrome b mutations. There are two hypotheses to account for the unusual mitochondrial genetic etiology of the LHON in the Tas2 and Vic2 LHON families. One possibility is that there is a primary LHON mutation within the mitochondrial genome but that it is at a site that was not included in the sequencing analyses. Alternatively, the disease in these families may result from the cumulative effects of multiple secondary LHON mutations that have less severe phenotypic consequences. PMID:1463007

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

DOE Office of Scientific and Technical Information (OSTI.GOV)

Mackey, D.; Howell, N.

1992-12-01

The Tas2 and Vic2 Australian families are affected with a variant of Leber hereditary optic neuropathy (LHON). The risk of developing the optic neuropathy shows strict maternal inheritance, and the opthalmological changes in affected family members are characteristic of LHON. However, in contrast to the common form of the disease, members of these two families show a high frequency of vision recovery. To ascertain the mitochondrial genetic etiology of the LHON in these families, both (a) the nucleotide sequences of the seven mitochondrial genes encoding subunits of respiratory-chain complex I and (b) the mitochondrial cytochrome b gene were determined formore » representatives of both families. Neither family carries any of the previously identified primary mitochondrial LHON mutations: ND4/11778, ND1/3460, or ND1/4160. Instead, both LHON families carry multiple nucleotide changes in the mitochondrial complex I genes, which produce conservative amino acid changes. From the available sequence data, it is inferred that the Vic2 and Tas2 LHON families are phylogenetically related to each other and to a cluster of LHON families in which mutations in the mitochondrial cytochrome b gene have been hypothesized to play a primary etiological role. However, sequencing analysis establishes that the Vic2 and Tas2 LHON families do not carry these cytochrome b mutations. There are two hypotheses to account for the unusual mitochondrial genetic etiology of the LHON in the Tas2 and Vic2 LHON families. One possibility is that there is a primary LHON mutation within the mitochondrial genome but that it is at a site that was not included in the sequencing analyses. Alternatively, the disease in these families may result from the cumulative effects of multiple secondary LHON mutations that have less severe phenotypic consequences. 29 refs., 3 figs., 3 tabs.« less

EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

PubMed

Bogusz, Agata M

2017-01-01

Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL) 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL) with abundant large, bizarre Hodgkin-like cells. By immunostaining, the malignant cells were immunoreactive for CD45, CD20, CD79a, PAX5, BCL6, MUM1, and p53 and negative for CD15, CD30, latent membrane protein 1 (LMP1), and EBV-encoded RNA (EBER). Flow cytometry demonstrated lambda light chain restricted CD5 and CD10 negative B-cells. Fluorescence in situ hybridization studies (FISH) were negative for cMYC , BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 (x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.

EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53

PubMed Central

2017-01-01

Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL) 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL) with abundant large, bizarre Hodgkin-like cells. By immunostaining, the malignant cells were immunoreactive for CD45, CD20, CD79a, PAX5, BCL6, MUM1, and p53 and negative for CD15, CD30, latent membrane protein 1 (LMP1), and EBV-encoded RNA (EBER). Flow cytometry demonstrated lambda light chain restricted CD5 and CD10 negative B-cells. Fluorescence in situ hybridization studies (FISH) were negative for cMYC, BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2. PMID:28487787

Gliosarcomas arising from the pineal gland region: uncommon localization and rare tumors.

PubMed

Sugita, Yasuo; Terasaki, Mizuhiko; Tanigawa, Ken; Ohshima, Koichi; Morioka, Motohiro; Higaki, Koichi; Nakagawa, Setsuko; Shimokawa, Shoko; Nakashima, Susumu

2016-02-01

Gliosarcomas are a variant of glioblastomas and present a biphasic pattern, with coexisting glial and mesenchymal components. In this study, two unusual cases are presented. Case 1 is a 52-year-old woman with a headache and memory disturbance for a month. Case 2 is an 18-year-old man with a headache lasting two weeks. In both cases, an MRI revealed enhancing T1-low to iso, T2-iso to high intensity lesions in the pineal gland region. Histologically, in case 1, the tumor showed spindle cell proliferation with disorganized fascicles and cellular pleomorphism. Tumor cells variously exhibited oncocytic transformation. Immunohistochemically, most of the spindle tumor cells were positive for myoglobin and desmin. Some of the tumor cells were positive for GFAP and S-100 protein. On the other hand, all tumor cells were positive for CD133, Musashi1, and SOX-2 which are the markers of neural stem cells. In case 2, the tumor showed monotonous proliferation of short spindle cells with disorganized fascicles and cellular atypism. The morphological distinction between glial and mesenchymal components was not apparent. Immunohistochemically, most of the spindle tumor cells were positive for desmin. Glial tumor cells that were dispersed within the sarcoma as single cells were positive for GFAP. In addition, all tumor cells were positive for CD133, Musashi1 and SOX-2. Based on these microscopic appearances, and immunohistochemical findings, these cases were diagnosed as gliosarcomas arising from the pineal gland region. These results also indicated that pluripotential cancer stem cells differentiated into glial and muscle cell lines at the time of tumor growth. In a survey of previous publications on gliosarcoma arising from the pineal gland, these cases are the second and third reports found in English scientific writings. © 2015 Japanese Society of Neuropathology.

The radix entomolaris in mandibular first molars: an endodontic challenge.

PubMed

De Moor, R J G; Deroose, C A J G; Calberson, F L G

2004-11-01

To present cases of mandibular first molars with an additional distolingual root (radix entomolaris, RE) and to survey the literature on the incidence of this anatomical feature. A major anatomical variant of the two-rooted mandibular first molar is a tooth with an additional distolingual and third root: the RE. The prevalence of these three-rooted mandibular first molars appears to be less than 3% in African populations, not to exceed 4.2% in Caucasians, to be less than 5% in Eurasian and Asian populations, and to be higher than 5% (even up to 40%) in populations with Mongolian traits. A total of 18 cases (12 root filled and six extracted mandibular first molars) with an RE were collected during the years 2000-2003 in patients of Caucasian origin. As far as the access was concerned, entering the root canal in the RE required a modification of the opening in a distolingual direction resulting in a trapezoidal opening cavity. None of the orifices was located midway between the mesial and distal root component. Based on the anatomy of the extracted samples and the bending of ISO 10 files after scouting of the root canal in the RE, three types of curvature were detected: (I) straight or no curvature (two cases); (II) coronal third curved and straight continuation to the apex (five cases); and (III) curvature in the coronal third and buccal curvature from the middle third or apical third of the root (11 cases). Clinicians should be aware of this unusual root morphology in mandibular first molars in Caucasian people. Radiographs exposed at two different horizontal angles are needed to identify this additional root. The access cavity must be modified in a distolingual direction in order to visualize and treat the RE, this results in a trapezoidal access cavity.

Genetic diversity, morphological uniformity and polyketide production in dinoflagellates (Amphidinium, Dinoflagellata).

PubMed

Murray, Shauna A; Garby, Tamsyn; Hoppenrath, Mona; Neilan, Brett A

2012-01-01

Dinoflagellates are an intriguing group of eukaryotes, showing many unusual morphological and genetic features. Some groups of dinoflagellates are morphologically highly uniform, despite indications of genetic diversity. The species Amphidinium carterae is abundant and cosmopolitan in marine environments, grows easily in culture, and has therefore been used as a 'model' dinoflagellate in research into dinoflagellate genetics, polyketide production and photosynthesis. We have investigated the diversity of 'cryptic' species of Amphidinium that are morphologically similar to A. carterae, including the very similar species Amphidinium massartii, based on light and electron microscopy, two nuclear gene regions (LSU rDNA and ITS rDNA) and one mitochondrial gene region (cytochrome b). We found that six genetically distinct cryptic species (clades) exist within the species A. massartii and four within A. carterae, and that these clades differ from one another in molecular sequences at levels comparable to other dinoflagellate species, genera or even families. Using primers based on an alignment of alveolate ketosynthase sequences, we isolated partial ketosynthase genes from several Amphidinium species. We compared these genes to known dinoflagellate ketosynthase genes and investigated the evolution and diversity of the strains of Amphidinium that produce them.

Genetic Diversity, Morphological Uniformity and Polyketide Production in Dinoflagellates (Amphidinium, Dinoflagellata)

PubMed Central

Hoppenrath, Mona; Neilan, Brett A.

2012-01-01

Dinoflagellates are an intriguing group of eukaryotes, showing many unusual morphological and genetic features. Some groups of dinoflagellates are morphologically highly uniform, despite indications of genetic diversity. The species Amphidinium carterae is abundant and cosmopolitan in marine environments, grows easily in culture, and has therefore been used as a ‘model’ dinoflagellate in research into dinoflagellate genetics, polyketide production and photosynthesis. We have investigated the diversity of ‘cryptic’ species of Amphidinium that are morphologically similar to A. carterae, including the very similar species Amphidinium massartii, based on light and electron microscopy, two nuclear gene regions (LSU rDNA and ITS rDNA) and one mitochondrial gene region (cytochrome b). We found that six genetically distinct cryptic species (clades) exist within the species A. massartii and four within A. carterae, and that these clades differ from one another in molecular sequences at levels comparable to other dinoflagellate species, genera or even families. Using primers based on an alignment of alveolate ketosynthase sequences, we isolated partial ketosynthase genes from several Amphidinium species. We compared these genes to known dinoflagellate ketosynthase genes and investigated the evolution and diversity of the strains of Amphidinium that produce them. PMID:22675531

Confined in-fiber solidification and structural control of silicon and silicon−germanium microparticles

PubMed Central

Gumennik, Alexander; Levy, Etgar C.; Grena, Benjamin; Hou, Chong; Rein, Michael; Abouraddy, Ayman F.; Joannopoulos, John D.; Fink, Yoel

2017-01-01

Crystallization of microdroplets of molten alloys could, in principle, present a number of possible morphological outcomes, depending on the symmetry of the propagating solidification front and its velocity, such as axial or spherically symmetric species segregation. However, because of thermal or constitutional supercooling, resulting droplets often only display dendritic morphologies. Here we report on the crystallization of alloyed droplets of controlled micrometer dimensions comprising silicon and germanium, leading to a number of surprising outcomes. We first produce an array of silicon−germanium particles embedded in silica, through capillary breakup of an alloy-core silica-cladding fiber. Heating and subsequent controlled cooling of individual particles with a two-wavelength laser setup allows us to realize two different morphologies, the first being a silicon−germanium compositionally segregated Janus particle oriented with respect to the illumination axis and the second being a sphere made of dendrites of germanium in silicon. Gigapascal-level compressive stresses are measured within pure silicon solidified in silica as a direct consequence of volume-constrained solidification of a material undergoing anomalous expansion. The ability to generate microspheres with controlled morphology and unusual stresses could pave the way toward advanced integrated in-fiber electronic or optoelectronic devices. PMID:28642348

Confined in-fiber solidification and structural control of silicon and silicon-germanium microparticles.

PubMed

Gumennik, Alexander; Levy, Etgar C; Grena, Benjamin; Hou, Chong; Rein, Michael; Abouraddy, Ayman F; Joannopoulos, John D; Fink, Yoel

2017-07-11

Crystallization of microdroplets of molten alloys could, in principle, present a number of possible morphological outcomes, depending on the symmetry of the propagating solidification front and its velocity, such as axial or spherically symmetric species segregation. However, because of thermal or constitutional supercooling, resulting droplets often only display dendritic morphologies. Here we report on the crystallization of alloyed droplets of controlled micrometer dimensions comprising silicon and germanium, leading to a number of surprising outcomes. We first produce an array of silicon-germanium particles embedded in silica, through capillary breakup of an alloy-core silica-cladding fiber. Heating and subsequent controlled cooling of individual particles with a two-wavelength laser setup allows us to realize two different morphologies, the first being a silicon-germanium compositionally segregated Janus particle oriented with respect to the illumination axis and the second being a sphere made of dendrites of germanium in silicon. Gigapascal-level compressive stresses are measured within pure silicon solidified in silica as a direct consequence of volume-constrained solidification of a material undergoing anomalous expansion. The ability to generate microspheres with controlled morphology and unusual stresses could pave the way toward advanced integrated in-fiber electronic or optoelectronic devices.

Vertebral anatomy in the Florida manatee, Trichechus manatus latirostris: a developmental and evolutionary analysis.

PubMed

Buchholtz, Emily A; Booth, Amy C; Webbink, Katherine E

2007-06-01

The vertebral column of the Florida manatee presents an unusual suite of morphological traits. Key among these are a small precaudal count, elongate thoracic vertebrae, extremely short neural spines, lack of a sacral series, high lumbar variability, and the presence of six instead of seven cervical vertebrae. This study documents vertebral morphology, size, and lumbar variation in 71 skeletons of Trichechus manatus latirostris (Florida manatee) and uses the skeletons of Trichechus senegalensis (west African manatee) and Dugong dugon (dugong) in comparative analysis. Vertebral traits are used to define morphological, and by inference developmental, column modules and to propose their hierarchical relationships. A sequence of evolutionary innovations in column morphology is proposed. Results suggest that the origin of the fluke and low rates of cervical growth originated before separation of trichechids (manatees) and dugongids (dugongs). Meristic reduction in count is a later, trichechid innovation and is expressed across the entire precaudal column. Elongation of thoracic vertebrae may be an innovative strategy to generate an elongate column in an animal with a small precaudal count. Elimination of the lumbus through both meristic and homeotic reduction is currently in progress. 2007 Wiley-Liss, Inc.

Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.

PubMed Central

Greenhaw, G A; Hebert, A; Duke-Woodside, M E; Butler, I J; Hecht, J T; Cleaver, J E; Thomas, G H; Horton, W A

1992-01-01

Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that of normal controls. However, neither a post-UV-irradiation DNA excision-repair defect indicative of XP nor a semiconservative DNA replication defect indicative of XP variant was found. Rather, a failure of RNA synthesis to recover to normal levels after UV exposure was observed, a biochemical abnormality seen in Cockayne syndrome (CS), one of the premature-aging syndromes with clinical UV sensitivity. These patients, therefore, clinically have XP, but their biochemical characteristics suggest CS. The reason(s) for the severe neurologic disease, in light of the relatively mild cutaneous abnormalities, is unclear. Other cases with unusual fibroblast responses to irradiation have been noted in the literature and, along with the data from our patients, reinforce the notion of the complexity of DNA maintenance and repair. Images Figure 1 Figure 1 Figure 2 Figure 3 PMID:1372469

Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia.

PubMed

Bower, Regina S; Daugherty, Wilson P; Giannini, Caterina; Parney, Ian F

2012-01-01

Phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT) is a rare tumor typically occurring in soft tissues and bone, causing oncogenic (tumor-induced) osteomalacia (TIO) through secretion of the phosphaturic hormone, fibroblast growth factor-23 (FGF-23). Rare tumors identical to PMTMCT occur without known TIO. Intracranial localization of PMTMCT is extremely rare, with only two cases reported in the literature. We present a very unusual case of a patient with an intracranial PMTMCT that presented with neurologic changes without osteomalacia. A 67-year-old woman presented with progressive incontinence, apathy, and abulia after having undergone a total knee replacement 1 month earlier. Imaging disclosed a large left frontal anterior fossa mass. She underwent uncomplicated surgical resection of this tumor. Surprisingly, histopathology suggested PMTMCT. Reverse transcription polymerase chain reaction (RT-PCR) assay demonstrating FGF-23 expression in the tumor confirmed the diagnosis. Serum FGF-23 levels postoperatively were normal and she had no clinical or laboratory evidence of osteomalacia or phosphaturia. This report should serve to alert clinicians to the possibility that PMTMCT can be included in the differential diagnosis of intracranial masses even in the absence of tumor-induced osteomalacia.

Variant Carvajal syndrome with additional dental anomalies.

PubMed

Barber, Sophy; Day, Peter; Judge, Mary; Toole, Edell O'; Fayle, Stephen

2012-09-01

This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death. The case is discussed with reference to a number of dermatological and oral conditions which were considered as possible diagnoses. AW had been under long term dental care for prepubertal periodontitis, premature root resorption of primary teeth, soft tissue and dental anomalies, and angular cheilitis. Separately she had also been seen by several dermatologists with respect to palmar plantar keratosis, striae keratoderma, wiry hair and abnormal finger nails. Tragically the patient suffered a sudden unexpected death and the subsequent post mortem identified an undiagnosed dilated cardiomyopathy. The most likely diagnosis is that this case is a variant of Carvajal Syndrome with additional dental anomalies. To date we have been unable to identify mutations in the desoplakin gene. We aim to emphasise the importance of recognising these dental and dermatological signs when they present together as a potential risk factor for cardiac abnormalities. © 2012 The Authors. International Journal of Paediatric Dentistry © 2012 BSPD, IAPD and Blackwell Publishing Ltd.

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half-siblings.

PubMed

Pogue, Robert; Marques, Felipe A; Kopacek, Cristiane; Rosa, Rosana C M; Dorfman, Luiza E; Mazzeu, Juliana F; Flores, José A M; Zen, Paulo R G; Rosa, Rafael F M

2017-05-01

Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well. © 2017 Wiley Periodicals, Inc.

Phylogeny-Based Systematization of Arabidopsis Proteins with Histone H1 Globular Domain1[OPEN

PubMed Central

Knizewski, Lukasz; Schmidt, Anja; Ginalski, Krzysztof

2017-01-01

H1 (or linker) histones are basic nuclear proteins that possess an evolutionarily conserved nucleosome-binding globular domain, GH1. They perform critical functions in determining the accessibility of chromatin DNA to trans-acting factors. In most metazoan species studied so far, linker histones are highly heterogenous, with numerous nonallelic variants cooccurring in the same cells. The phylogenetic relationships among these variants as well as their structural and functional properties have been relatively well established. This contrasts markedly with the rather limited knowledge concerning the phylogeny and structural and functional roles of an unusually diverse group of GH1-containing proteins in plants. The dearth of information and the lack of a coherent phylogeny-based nomenclature of these proteins can lead to misunderstandings regarding their identity and possible relationships, thereby hampering plant chromatin research. Based on published data and our in silico and high-throughput analyses, we propose a systematization and coherent nomenclature of GH1-containing proteins of Arabidopsis (Arabidopsis thaliana [L.] Heynh) that will be useful for both the identification and structural and functional characterization of homologous proteins from other plant species. PMID:28298478

Phylogeny-Based Systematization of Arabidopsis Proteins with Histone H1 Globular Domain.

PubMed

Kotliński, Maciej; Knizewski, Lukasz; Muszewska, Anna; Rutowicz, Kinga; Lirski, Maciej; Schmidt, Anja; Baroux, Célia; Ginalski, Krzysztof; Jerzmanowski, Andrzej

2017-05-01

H1 (or linker) histones are basic nuclear proteins that possess an evolutionarily conserved nucleosome-binding globular domain, GH1. They perform critical functions in determining the accessibility of chromatin DNA to trans-acting factors. In most metazoan species studied so far, linker histones are highly heterogenous, with numerous nonallelic variants cooccurring in the same cells. The phylogenetic relationships among these variants as well as their structural and functional properties have been relatively well established. This contrasts markedly with the rather limited knowledge concerning the phylogeny and structural and functional roles of an unusually diverse group of GH1-containing proteins in plants. The dearth of information and the lack of a coherent phylogeny-based nomenclature of these proteins can lead to misunderstandings regarding their identity and possible relationships, thereby hampering plant chromatin research. Based on published data and our in silico and high-throughput analyses, we propose a systematization and coherent nomenclature of GH1-containing proteins of Arabidopsis ( Arabidopsis thaliana [L.] Heynh) that will be useful for both the identification and structural and functional characterization of homologous proteins from other plant species. © 2017 American Society of Plant Biologists. All Rights Reserved.

Antigenic characterization of intermediate adenovirus 14-11 strains associated with upper respiratory illness in a military camp.

PubMed Central

Hierholzer, J C; Pumarola, A

1976-01-01

An unusual variant of adenovirus (AV) 11 was isolated from throat and rectal swabs from six persons with upper respiratory illness in a Spanish military camp in March 1969. The same strain was serologically related to the upper respiratory illness of seven other men among 25 sample cases studied in detail. After strain purification, the virus was grouped as an AV by standard biological tests; it possessed the usual titers of group-specific hexon antigen but only low hemagglutinin titers (1:4 to 1:8) with erythrocytes from selected rhesus monkeys. The virus gave little reaction in hemagglutination inhibition (HI) tests with antisera to AV 1 through 35, but was neutralized to homologous titers by AV 11 antiserum. Reciprocally, rabbit and guinea pig antisera to the isolates possessed high HI antibody titers to prototype AV 14 and high serum neutralization (SN) antibody titers to prototype AV 11. On this basis, the variants were classified as AV 14-11 intermediates. Sequential serum specimens from the patients with and without positive cultures showed diagnostic rises in HI and SN antibody levels to the AV 14-11 intermediate and to prototype AV 11, but little response to AV 14. PMID:177365

Synthesis of mesoscale, crumpled, reduced graphene oxide roses by water-in-oil emulsion approach

NASA Astrophysics Data System (ADS)

Sharma, Shruti; Pham, Viet H.; Boscoboinik, Jorge A.; Camino, Fernando; Dickerson, James H.; Tannenbaum, Rina

2018-05-01

Mesoscale crumpled graphene oxide roses (GO roses) were synthesized by using colloidal graphene oxide (GO) variants as precursors for a hybrid emulsification-rapid evaporation approach. This process produced rose-like, spherical, reduced mesostructures of colloidal GO sheets, with corrugated surfaces and particle sizes tunable in the range of ∼800 nm to 15 μm. Excellent reproducibility for particle size distribution is shown for each selected speed of homogenizer rotor among different sample batches. The morphology and chemical structure of these produced GO roses was investigated using electron microscopy and spectroscopy techniques. The proposed synthesis route provides control over particle size, morphology and chemical properties of the synthesized GO roses.

Variation of BMP3 Contributes to Dog Breed Skull Diversity

PubMed Central

Schoenebeck, Jeffrey J.; Hutchinson, Sarah A.; Byers, Alexandra; Beale, Holly C.; Carrington, Blake; Faden, Daniel L.; Rimbault, Maud; Decker, Brennan; Kidd, Jeffrey M.; Sood, Raman; Boyko, Adam R.; Fondon, John W.; Wayne, Robert K.; Bustamante, Carlos D.; Ciruna, Brian; Ostrander, Elaine A.

2012-01-01

Since the beginnings of domestication, the craniofacial architecture of the domestic dog has morphed and radiated to human whims. By beginning to define the genetic underpinnings of breed skull shapes, we can elucidate mechanisms of morphological diversification while presenting a framework for understanding human cephalic disorders. Using intrabreed association mapping with museum specimen measurements, we show that skull shape is regulated by at least five quantitative trait loci (QTLs). Our detailed analysis using whole-genome sequencing uncovers a missense mutation in BMP3. Validation studies in zebrafish show that Bmp3 function in cranial development is ancient. Our study reveals the causal variant for a canine QTL contributing to a major morphologic trait. PMID:22876193

[Morphological abnormalities in the cibarium of Lutzomyia evansi (Diptera: Psychodidae, Phlebotominae) caught in Trujillo, Venezuela].

PubMed

Méndez-de Daboín, Yolanda; Oviedo-Araújo, Milagros; González-Pérez, Adalberto; Suárez-Hernández, Jorge; Sandoval, Claudia M; Cazorla, Dalmiro

2015-01-01

Lutzomyia evansi is a recognized vector of Leishmania infantum in Colombia and Venezuela. To describe and illustrate the morphological abnormalities in Lu. evansi females captured in a rural focus of visceral leishmaniasis in Trujillo, Venezuela. Phlebotomine sand flies were collected using CDC light traps, Shannon traps and aspiration in resting places. The identification was performed according to Young & Duncan (1994) and drawings were made using a microscope with camara lucida . Abnormalities in the cibarium of Lu. evansi were detected in 4 (0.12%) females of the 3,477 adults that were studied. Lutzomyia evansi can have uncommon morphological variants associated with an increase in the number of teeth in the cibarium and their arrangement, which may lead to errors in the taxonomic identification of anomalous specimens. The study of such deformities can serve to avoid taxonomic identification errors.

Characterization of Alzheimer's Protective and Causative Amyloid-beta Variants Using a Combination of Simulations and Experiments

NASA Astrophysics Data System (ADS)

Das, Payel; Chakraborty, Srirupa; Chacko, Anita; Murray, Brian; Belfort, Georges

The aggregation of amyloid-beta (A β) peptides plays a crucial role in the etiology of Alzheimer's disease (AD). Recently, it has been reported that an A2T mutation in A β can protect from AD. Interestingly, an A2V mutation has been also found to offer protection against AD in the heterozygous state. Structural characterization of these natural A β variants thus offers an intriguing approach to understand the molecular mechanism of AD. Toward this goal, we have characterized the conformational landscapes of the intrinsically disordered WT, A2V, and A2T A β1-42 variant monomers and dimers by using extensive atomistic molecular dynamics (MD) simulations. Simulations reveal markedly different secondary and tertiary structure at the central and C-terminal hydrophobic regions of the peptide, which play a crucial role in A β aggregation and related toxicity. For example, an enhanced double β-hairpin formation was observed in A2V monomer. In contrast, the A2T mutation enhances disorder of the conformational ensemble due to formation of atypical long-range interactions. These structural insights obtained from simulations allow understanding of the differential aggregation, oligomer morphology, and LTP inhibition of the variants observed in the experiments and offer a path toward designing and testing aggregation inhibitors.

QCL-based standoff and proximal chemical detectors

NASA Astrophysics Data System (ADS)

Dupuis, Julia R.; Hensley, Joel; Cosofret, Bogdan R.; Konno, Daisei; Mulhall, Phillip; Schmit, Thomas; Chang, Shing; Allen, Mark; Marinelli, William J.

2016-05-01

The development of two longwave infrared quantum cascade laser (QCL) based surface contaminant detection platforms supporting government programs will be discussed. The detection platforms utilize reflectance spectroscopy with application to optically thick and thin materials including solid and liquid phase chemical warfare agents, toxic industrial chemicals and materials, and explosives. Operation at standoff (10s of m) and proximal (1 m) ranges will be reviewed with consideration given to the spectral signatures contained in the specular and diffusely reflected components of the signal. The platforms comprise two variants: Variant 1 employs a spectrally tunable QCL source with a broadband imaging detector, and Variant 2 employs an ensemble of broadband QCLs with a spectrally selective detector. Each variant employs a version of the Adaptive Cosine Estimator for detection and discrimination in high clutter environments. Detection limits of 5 μg/cm2 have been achieved through speckle reduction methods enabling detector noise limited performance. Design considerations for QCL-based standoff and proximal surface contaminant detectors are discussed with specific emphasis on speckle-mitigated and detector noise limited performance sufficient for accurate detection and discrimination regardless of the surface coverage morphology or underlying surface reflectivity. Prototype sensors and developmental test results will be reviewed for a range of application scenarios. Future development and transition plans for the QCL-based surface detector platforms are discussed.

Assessment of microcrystal quality by transmission electron microscopy for efficient serial femtosecond crystallography.

PubMed

Barnes, Christopher O; Kovaleva, Elena G; Fu, Xiaofeng; Stevenson, Hilary P; Brewster, Aaron S; DePonte, Daniel P; Baxter, Elizabeth L; Cohen, Aina E; Calero, Guillermo

2016-07-15

Serial femtosecond crystallography (SFX) employing high-intensity X-ray free-electron laser (XFEL) sources has enabled structural studies on microcrystalline protein samples at non-cryogenic temperatures. However, the identification and optimization of conditions that produce well diffracting microcrystals remains an experimental challenge. Here, we report parallel SFX and transmission electron microscopy (TEM) experiments using fragmented microcrystals of wild type (WT) homoprotocatechuate 2,3-dioxygenase (HPCD) and an active site variant (H200Q). Despite identical crystallization conditions and morphology, as well as similar crystal size and density, the indexing efficiency of the diffraction data collected using the H200Q variant sample was over 7-fold higher compared to the diffraction results obtained using the WT sample. TEM analysis revealed an abundance of protein aggregates, crystal conglomerates and a smaller population of highly ordered lattices in the WT sample as compared to the H200Q variant sample. While not reported herein, the 1.75 Å resolution structure of the H200Q variant was determined from ∼16 min of beam time, demonstrating the utility of TEM analysis in evaluating sample monodispersity and lattice quality, parameters critical to the efficiency of SFX experiments. Copyright © 2016 Elsevier Inc. All rights reserved.

A high-temperature passaging attenuated Pseudorabies vaccine protects piglets completely against emerging PRV variant.

PubMed

Liang, Chao; Tong, Wu; Zheng, Hao; Liu, Fei; Wu, Jiqiang; Li, Guoxin; Zhou, En-Min; Tong, Guangzhi

2017-06-01

Emerging variant of pseudorabies virus (PRV) have evaded the antiviral immunity of commercially available PRV vaccine and have led to PRV outbreaks in Chinese pig farms. Here, we attenuated a PRV variant strain by serial passages in vitro and evaluate the protective efficacy of the attenuated strain as a vaccine candidate. The virulent PRV variant strain JS-2012 was continuously passaged in Vero cells at 40°C and attenuated rapidly. After 90 passages in Vero cells, the passaged virus lost its ability to cause death in 2-week-old piglets. The 120th passage virus was avirulent in the sucking piglets. An attenuated strain, JS-2012-F120 derived from the 120th passage virus by three rounds of plaque cloning grew better than its parent strain JS-2012 in Vero cells and showed notably different cytopathic effects and plaque morphology from JS-2012. PCR combined with sequence analysis showed that JS-2012-F120 contained a 2307-bp deletion covering nucleotide 487 of gE gene to 531 of US2 gene. After inoculation with JS-2012-F120, young piglets were completely protected from challenge with the classical and emerging virulent PRVs. Moreover, the piglets did not develop specific gE antibodies. Thus, JS-2012-F120 appears to be a promising marker vaccine to control PRV variant circulating in Chinese pig farms, and the high-temperature passaging in vitro was an efficient method to attenuated alphaherpesvirus. Copyright © 2017 Elsevier Ltd. All rights reserved.

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

PubMed

Li, Man; Li, Yong; Weeks, Olivia; Mijatovic, Vladan; Teumer, Alexander; Huffman, Jennifer E; Tromp, Gerard; Fuchsberger, Christian; Gorski, Mathias; Lyytikäinen, Leo-Pekka; Nutile, Teresa; Sedaghat, Sanaz; Sorice, Rossella; Tin, Adrienne; Yang, Qiong; Ahluwalia, Tarunveer S; Arking, Dan E; Bihlmeyer, Nathan A; Böger, Carsten A; Carroll, Robert J; Chasman, Daniel I; Cornelis, Marilyn C; Dehghan, Abbas; Faul, Jessica D; Feitosa, Mary F; Gambaro, Giovanni; Gasparini, Paolo; Giulianini, Franco; Heid, Iris; Huang, Jinyan; Imboden, Medea; Jackson, Anne U; Jeff, Janina; Jhun, Min A; Katz, Ronit; Kifley, Annette; Kilpeläinen, Tuomas O; Kumar, Ashish; Laakso, Markku; Li-Gao, Ruifang; Lohman, Kurt; Lu, Yingchang; Mägi, Reedik; Malerba, Giovanni; Mihailov, Evelin; Mohlke, Karen L; Mook-Kanamori, Dennis O; Robino, Antonietta; Ruderfer, Douglas; Salvi, Erika; Schick, Ursula M; Schulz, Christina-Alexandra; Smith, Albert V; Smith, Jennifer A; Traglia, Michela; Yerges-Armstrong, Laura M; Zhao, Wei; Goodarzi, Mark O; Kraja, Aldi T; Liu, Chunyu; Wessel, Jennifer; Boerwinkle, Eric; Borecki, Ingrid B; Bork-Jensen, Jette; Bottinger, Erwin P; Braga, Daniele; Brandslund, Ivan; Brody, Jennifer A; Campbell, Archie; Carey, David J; Christensen, Cramer; Coresh, Josef; Crook, Errol; Curhan, Gary C; Cusi, Daniele; de Boer, Ian H; de Vries, Aiko P J; Denny, Joshua C; Devuyst, Olivier; Dreisbach, Albert W; Endlich, Karlhans; Esko, Tõnu; Franco, Oscar H; Fulop, Tibor; Gerhard, Glenn S; Glümer, Charlotte; Gottesman, Omri; Grarup, Niels; Gudnason, Vilmundur; Hansen, Torben; Harris, Tamara B; Hayward, Caroline; Hocking, Lynne; Hofman, Albert; Hu, Frank B; Husemoen, Lise Lotte N; Jackson, Rebecca D; Jørgensen, Torben; Jørgensen, Marit E; Kähönen, Mika; Kardia, Sharon L R; König, Wolfgang; Kooperberg, Charles; Kriebel, Jennifer; Launer, Lenore J; Lauritzen, Torsten; Lehtimäki, Terho; Levy, Daniel; Linksted, Pamela; Linneberg, Allan; Liu, Yongmei; Loos, Ruth J F; Lupo, Antonio; Meisinger, Christine; Melander, Olle; Metspalu, Andres; Mitchell, Paul; Nauck, Matthias; Nürnberg, Peter; Orho-Melander, Marju; Parsa, Afshin; Pedersen, Oluf; Peters, Annette; Peters, Ulrike; Polasek, Ozren; Porteous, David; Probst-Hensch, Nicole M; Psaty, Bruce M; Qi, Lu; Raitakari, Olli T; Reiner, Alex P; Rettig, Rainer; Ridker, Paul M; Rivadeneira, Fernando; Rossouw, Jacques E; Schmidt, Frank; Siscovick, David; Soranzo, Nicole; Strauch, Konstantin; Toniolo, Daniela; Turner, Stephen T; Uitterlinden, André G; Ulivi, Sheila; Velayutham, Dinesh; Völker, Uwe; Völzke, Henry; Waldenberger, Melanie; Wang, Jie Jin; Weir, David R; Witte, Daniel; Kuivaniemi, Helena; Fox, Caroline S; Franceschini, Nora; Goessling, Wolfram; Köttgen, Anna; Chu, Audrey Y

2017-03-01

Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium ( n Stage1 : 111,666; n Stage2 : 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea ( PPM1J , EDEM3, ACP1, SPEG, EYA4, CYP1A1 , and ATXN2L ; P Stage1 <3.7×10 -7 ), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 ( P =5.4×10 -8 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2 -knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation. Copyright © 2017 by the American Society of Nephrology.

The Weiss score and beyond--histopathology for adrenocortical carcinoma.

PubMed

Papotti, Mauro; Libè, Rossella; Duregon, Eleonora; Volante, Marco; Bertherat, Jerome; Tissier, Frederique

2011-12-01

The pathological diagnosis of adrenocortical carcinoma (ACC) is still challenging for its rarity and the presence of special variants (pediatric, oncocytic, myxoid, and sarcomatoid). It is based on the recognition at light microscopy of at least three among nine morphological parameters, according to the Weiss scoring system, which has been introduced 27 years ago and nowadays is the most widely employed. Nevertheless, the diagnostic performance of this system is very high but does not reach a sensitivity and specificity of 100%, its diagnostic applicability is potentially low among non-expert pathologists, and a group of borderline cases with only one or two criteria exist of uncertain behavior. Moreover, it is scarcely reproducible in the ACC morphological variants. In fact, specifically for the pure oncocytic neoplasms that seem to have a better prognosis in comparison to the conventional ACCs, a modified system (the Lin-Weiss-Bisceglia) has been proposed. With the aim to simplify the ACC diagnosis, 2 years ago, the "reticulin" diagnostic algorithm has been proposed, based on the observation that the tumoral reticulin framework (highlighted by reticulin silver-based histochemical staining) is consistently disrupted in malignant cases but only in a small subset of benign cases. Following this algorithm, in the presence of reticulin alterations, malignancy is further defined through the identification of at least one of the following parameters: necrosis, high mitotic rate, and venous invasion. As a complement to the morphological approach, some immunohistochemical markers (such as steroidogenic factor 1) have been proposed as diagnostic and prognostic adjuncts but still lack wide clinical validation.

[Sclerosing epithelioid fibrosarcoma of the paravertebral column. Case report and literature review].

PubMed

Puerta Roldán, Patricia; Rodríguez Rodríguez, Rodrigo; Bagué Rossell, Silvia; de Juan Delago, Manel; Molet Teixidó, Joan

2013-01-01

Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of low-grade fibrosarcoma, with specific histological and immunohistochemical features and a poor prognosis. We report a case of SEF of the paravertebral column in a 49-year old male who presented a paraspinal mass with extension into the L4-L5 neural foramen and invasion of the L5 nerve root. Histology of the tumourectomy specimen and its immunohistochemical study led to the diagnosis of SEF. This case was particularly unusual due to its paravertebral column location and, despite its low grade, illustrates the malignant potential of SEF. Copyright © 2012 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

Poland's syndrome with unusual hand and chest anomalies: a rare case report.

PubMed

Yadav, G K; Lal, S; Dange, N; Marwah, K G; Singh, J P

2014-01-01

Poland's syndrome is a rare congenital anomaly consisting of a unilateral absence of the pectoralis major, ipsilateral muscle, hand anomaly and occasionally associated other malformations of the chest wall and breast. Many structural and functional abnormalities have been described in association with this syndrome. We report an incidentally diagnosed case in a 27-year-old male patient who presented to us with symbrachydactyly. In addition to this, anterior depression of 2nd, 3rd and 4th ribs and bifid (forked) 5th rib was present on radiological investigations. The body of sternum was short and deformed on the right side with absence of xiphoid process. All middle phalanges were absent on righthand. It is a rare variant of Poland's syndrome.

Telangiectatic osteosarcoma.

PubMed

Sangle, Nikhil A; Layfield, Lester J

2012-05-01

Osteosarcoma is one of the most common primary malignant bone tumors in children and adolescents. Telangiectatic osteosarcoma is an unusual variant of osteosarcoma, forming 3% to 10% of all osteosarcomas. Radiographically, these tumors appear as purely lytic destructive lesions located in the metaphyses of long bones. The location and x-ray appearance of telangiectatic osteosarcomas are reminiscent of an aneurysmal bone cyst and can test the acumen of a diagnostic radiologist. Distinguishing between the two entities microscopically can also be quite challenging. Telangiectatic osteosarcoma shows dilated blood-filled spaces lined or traversed by septa containing atypical stromal cells, with or without production of a lacelike osteoid matrix. This review highlights the diagnostic features of telangiectatic osteosarcoma and discusses differential diagnostic considerations, treatment options, and prognostic implications.

Massive Broad Ligament Cellular Leiomyoma with Cystic Change: A Diagnostic Dilemma.

PubMed

Sharma, Preeti; Zaheer, Sufian; Yadav, Amit Kumar; Mandal, Ashish Kumar

2016-04-01

Leiomyomas are known to arise from uterus, but rarely from broad ligament. Further, cellular leiomyoma of broad ligament is the least common variant reported in literature. The diagnostic dilemma arises when leiomyomas undergo degenerative changes. This poses both clinical and radiological difficulty in differentiating with an ovarian tumour. We present an unusual case of a huge broad ligament mass measuring 29x19x09cm, mimicking an ovarian tumour both clinically and radiologically. Histopathology revealed cellular leiomyoma of broad ligament with cystic and myxoid degeneration hereby being the second case reported in literature. This case is being presented not only because of the rare incidence but also due to its diagnostic confusion with ovarian malignancy on clinical evaluation and radiological findings.

Occlusion of the artery of Percheron: an unusual cause of bilateral stroke.

PubMed

Anderson, Clare; O'Brien, Richard

2012-11-19

The artery of Percheron is a rare anatomical variant whereby a single vessel arising from the proximal segment of one posterior cerebral artery supplies both medial thalami. This is a rare example of a single arterial supply to brain structures on both sides of the midline. Occlusion of the artery of Percheron results in bilateral medial thalamic infarction, which is manifest clinically as gaze paresis, cognitive disturbance and altered consciousness. The presentation can mimic subarachnoid haemorrhage, drug intoxication, encephalitis and other inflammatory or infective conditions. The presentation is similar to the 'top of the basilar syndrome' and early recognition should prompt further investigation for underlying stroke aetiologies and consideration can be given to thrombolysis if vascular occlusion can be confirmed.

Far-field detection of sub-wavelength Tetris without extra near-field metal parts based on phase prints of time-reversed fields with intensive background interference.

PubMed

Chen, Yingming; Wang, Bing-Zhong

2014-07-14

Time-reversal (TR) phase prints are first used in far-field (FF) detection of sub-wavelength (SW) deformable scatterers without any extra metal structure positioned in the vicinity of the target. The 2D prints derive from discrete short-time Fourier transform of 1D TR electromagnetic (EM) signals. Because the time-invariant intensive background interference is effectively centralized by TR technique, the time-variant weak indication from FF SW scatterers can be highlighted. This method shows a different use of TR technique in which the focus peak of TR EM waves is unusually removed and the most useful information is conveyed by the other part.

Morphological Analysis of Bronchial Arteries and Variants with Computed Tomography Angiography.

PubMed

Esparza-Hernández, Claudia Nallely; Ramírez-González, Juan Manuel; Cuéllar-Lozano, Rolando Alberto; Morales-Avalos, Rodolfo; González-Arocha, Carla Sofía; Martínez-González, Brenda; Quiroga-Garza, Alejandro; Pinales-Razo, Ricardo; Elizondo-Riojas, Guillermo; Elizondo-Omaña, Rodrigo Enrique; Guzmán-López, Santos

2017-01-01

The aim of our study was to determine the prevalence of anatomical variants of bronchial arteries using computed tomographic angiography in a population of northeastern Mexico. An observational, transversal, descriptive, comparative, retrospective study was performed using 139 imaging studies of Mexican patients in which we evaluated the following parameters from the left and right bronchial arteries: artery origin, branching pattern, arterial ostium, vertebral level of origin, diameter, and mediastinal trajectory. The anatomies of the bronchial arteries were similar in both genders, except distribution for vertebral origin level ( p   0.006) and the diameter ( p   0.013). Left and right arteries were similar, except for the mediastinal trajectory in reference to the esophagus ( p < 0.001) as well as the arterial diameter ( p < 0.001) and lumen diameter.

Higher cell stiffness indicating lower metastatic potential in B16 melanoma cell variants and in (-)-epigallocatechin gallate-treated cells.

PubMed

Watanabe, Tatsuro; Kuramochi, Hiromi; Takahashi, Atsushi; Imai, Kazue; Katsuta, Naoko; Nakayama, Tomonobu; Fujiki, Hirota; Suganuma, Masami

2012-05-01

To understand how nanomechanical stiffness affects metastatic potential, we studied the relationship between cell migration, a characteristic of metastasis, and cell stiffness using atomic force microscopy (AFM), which can measure stiffness (elasticity) of individual living cells. Migration and cell stiffness of three metastatic B16 melanoma variants (B16-F10, B16-BL6, and B16-F1 cells), and also effects of (-)-epigallocatechin gallate (EGCG), were studied using Transwell assay and AFM. Migration of B16-F10 and B16-BL6 cells was 3 and 2 times higher than that of B16-F1 cells in Transwell assay, and cell stiffness determined by AFM was also different among the three variants, although they have similar morphologies and the same growth rates: Means of Young's modulus were 350.8 ± 4.8 Pa for B16-F10 cells, 661.9 ± 16.5 Pa for B16-BL6 cells, and 727.2 ± 13.0 Pa for B16-F1 cells. AFM measurements revealed that highly motile B16-F10 cells have low cell stiffness, and low motile and metastatic B16-F1 cells have high cell stiffness: Nanomechanical stiffness is inversely correlated with migration potential. Treatment of highly motile B16-F10 cells with EGCG increased cell stiffness 2-fold and inhibited migration of the cells. Our study with AFM clearly demonstrates that cell stiffness is a reliable quantitative indicator of migration potential, and very likely metastatic potential, even in morphologically similar cells. And increased cell stiffness may be a key nanomechanical feature in inhibition of metastasis.

Cranial morphology and bite force in Chamaeleolis lizards--adaptations to molluscivory?

PubMed

Herrel, Anthony; Holanova, Veronika

2008-01-01

Anolis lizards have become a model system for the study of adaptive radiations as species with similar morphologies occupying similar habitats have arisen independently on all the larger islands in the Caribbean. However, on both, Cuba and Hispaniola unique forms have evolved that seemingly have no counterparts on any of the other Caribbean islands. Anoles of the genus Chamaeleolis comprise such a unique form and have been termed 'twig giants' because of their cryptic life style, slow locomotor mode, and short limbs. However, some of the most unusual features of these lizards are their large heads and molluscivorous diet. Here, we compare head shape, bite force, and muscle structure among sexes and age classes of Chamaeleolis lizards with Anolis crown giants. Our data show that Chamaeleolis lizards have a dramatically different head shape characterized by tall heads with a pronounced temporal ridge and long snouts. Analyses of bite force, surprisingly, show no differences between adult Chamaeleolis and Anolis crown giants. Juveniles of Chamaeleolis, however, have very tall heads for their size and bite harder than Anolis juveniles do. This can be related to the propensity of juveniles of this genus to eat snails, food items for which high bite forces are crucial. This observation is corroborated by the presence of well-developed jaw adductors in juveniles. Thus, our data suggest that the unusual phenotype of adults with large and tall heads may be due to selection on the juvenile life history stages.

Usual and unusual development of the dicot leaf: involvement of transcription factors and hormones.

PubMed

Fambrini, Marco; Pugliesi, Claudio

2013-06-01

Morphological diversity exhibited by higher plants is essentially related to the tremendous variation of leaf shape. With few exceptions, leaf primordia are initiated postembryonically at the flanks of a group of undifferentiated and proliferative cells within the shoot apical meristem (SAM) in characteristic position for the species and in a regular phyllotactic sequence. Auxin is critical for this process, because genes involved in auxin biosynthesis, transport, and signaling are required for leaf initiation. Down-regulation of transcription factors (TFs) and cytokinins are also involved in the light-dependent leaf initiation pathway. Furthermore, mechanical stresses in SAM determine the direction of cell division and profoundly influence leaf initiation suggesting a link between physical forces, gene regulatory networks and biochemical gradients. After the leaf is initiated, its further growth depends on cell division and cell expansion. Temporal and spatial regulation of these processes determines the size and the shape of the leaf, as well as the internal structure. A complex array of intrinsic signals, including phytohormones and TFs control the appropriate cell proliferation and differentiation to elaborate the final shape and complexity of the leaf. Here, we highlight the main determinants involved in leaf initiation, epidermal patterning, and elaboration of lamina shape to generate small marginal serrations, more deep lobes or a dissected compound leaf. We also outline recent advances in our knowledge of regulatory networks involved with the unusual pattern of leaf development in epiphyllous plants as well as leaf morphology aberrations, such as galls after pathogenic attacks of pests.

Systematic reconstruction of autism biology from massive genetic mutation profiles

PubMed Central

Zhang, Chaolin; Jiang, Yong-hui

2018-01-01

Autism spectrum disorder (ASD) affects 1% of world population and has become a pressing medical and social problem worldwide. As a paradigmatic complex genetic disease, ASD has been intensively studied and thousands of gene mutations have been reported. Because these mutations rarely recur, it is difficult to (i) pinpoint the fewer disease-causing versus majority random events and (ii) replicate or verify independent studies. A coherent and systematic understanding of autism biology has not been achieved. We analyzed 3392 and 4792 autism-related mutations from two large-scale whole-exome studies across multiple resolution levels, that is, variants (single-nucleotide), genes (protein-coding unit), and pathways (molecular module). These mutations do not recur or replicate at the variant level, but significantly and increasingly do so at gene and pathway levels. Genetic association reveals a novel gene + pathway dual-hit model, where the mutation burden becomes less relevant. In multiple independent analyses, hundreds of variants or genes repeatedly converge to several canonical pathways, either novel or literature-supported. These pathways define recurrent and systematic ASD biology, distinct from previously reported gene groups or networks. They also present a catalog of novel ASD risk factors including 118 variants and 72 genes. At a subpathway level, most variants disrupt the pathway-related gene functions, and in the same gene, they tend to hit residues extremely close to each other and in the same domain. Multiple interacting variants spotlight key modules, including the cAMP (adenosine 3′,5′-monophosphate) second-messenger system and mGluR (metabotropic glutamate receptor) signaling regulation by GRKs (G protein–coupled receptor kinases). At a superpathway level, distinct pathways further interconnect and converge to three biology themes: synaptic function, morphology, and plasticity. PMID:29651456

Systematic reconstruction of autism biology from massive genetic mutation profiles.

PubMed

Luo, Weijun; Zhang, Chaolin; Jiang, Yong-Hui; Brouwer, Cory R

2018-04-01

Autism spectrum disorder (ASD) affects 1% of world population and has become a pressing medical and social problem worldwide. As a paradigmatic complex genetic disease, ASD has been intensively studied and thousands of gene mutations have been reported. Because these mutations rarely recur, it is difficult to (i) pinpoint the fewer disease-causing versus majority random events and (ii) replicate or verify independent studies. A coherent and systematic understanding of autism biology has not been achieved. We analyzed 3392 and 4792 autism-related mutations from two large-scale whole-exome studies across multiple resolution levels, that is, variants (single-nucleotide), genes (protein-coding unit), and pathways (molecular module). These mutations do not recur or replicate at the variant level, but significantly and increasingly do so at gene and pathway levels. Genetic association reveals a novel gene + pathway dual-hit model, where the mutation burden becomes less relevant. In multiple independent analyses, hundreds of variants or genes repeatedly converge to several canonical pathways, either novel or literature-supported. These pathways define recurrent and systematic ASD biology, distinct from previously reported gene groups or networks. They also present a catalog of novel ASD risk factors including 118 variants and 72 genes. At a subpathway level, most variants disrupt the pathway-related gene functions, and in the same gene, they tend to hit residues extremely close to each other and in the same domain. Multiple interacting variants spotlight key modules, including the cAMP (adenosine 3',5'-monophosphate) second-messenger system and mGluR (metabotropic glutamate receptor) signaling regulation by GRKs (G protein-coupled receptor kinases). At a superpathway level, distinct pathways further interconnect and converge to three biology themes: synaptic function, morphology, and plasticity.

Morphologic identification of atypical chronic lymphocytic leukemia by digital microscopy.

PubMed

Marionneaux, S; Maslak, P; Keohane, E M

2014-08-01

Atypical chronic lymphocytic leukemia (aCLL) is a morphologic variant found in approximately 25% of patients with chronic lymphocytic leukemia (CLL). Although aCLL has a more aggressive course compared to typical CLL (tCLL), it is not usually reported. This retrospective study used digital microscopy to morphologically classify CLL patients as aCLL or tCLL, and determined the prevalence of prognostic markers in each group. CellaVision AB (Lund, Sweden) was used to evaluate lymphocyte morphology on archived blood films of 97 CLL patients, and results of their prognostic marker analysis at diagnosis were obtained. The unpaired t-test, Chi-square, or Fisher's Exact test were used for statistical analysis. 27% of CLL cases were morphologically classified as aCLL. The aCLL group had a higher prevalence of trisomy 12, unmutated IgVH, and CD38 expression (markers associated with poor prognosis), and a lower prevalence of 13q14 deletions compared to tCLL; this was statistically significant. Using digital imaging to identify aCLL is feasible, economical, and may provide clinically relevant prognostic information at diagnosis and during periodic monitoring. Further study of a larger number of patients is needed to assess the clinical utility of reporting aCLL morphology. © 2013 John Wiley & Sons Ltd.

Overexpression of the lamina proteins Lamin and Kugelkern induces specific ultrastructural alterations in the morphology of the nuclear envelope of intestinal stem cells and enterocytes.

PubMed

Petrovsky, Roman; Krohne, Georg; Großhans, Jörg

2018-03-01

The nuclear envelope has a stereotypic morphology consisting of a flat double layer of the inner and outer nuclear membrane, with interspersed nuclear pores. Underlying and tightly linked to the inner nuclear membrane is the nuclear lamina, a proteinous layer of intermediate filament proteins and associated proteins. Physiological, experimental or pathological alterations in the constitution of the lamina lead to changes in nuclear morphology, such as blebs and lobulations. It has so far remained unclear whether the morphological changes depend on the differentiation state and the specific lamina protein. Here we analysed the ultrastructural morphology of the nuclear envelope in intestinal stem cells and differentiated enterocytes in adult Drosophila flies, in which the proteins Lam, Kugelkern or a farnesylated variant of LamC were overexpressed. Surprisingly, we detected distinct morphological features specific for the respective protein. Lam induced envelopes with multiple layers of membrane and lamina, surrounding the whole nucleus whereas farnesylated LamC induced the formation of a thick fibrillary lamina. In contrast, Kugelkern induced single-layered and double-layered intranuclear membrane structures, which are likely be derived from infoldings of the inner nuclear membrane or of the double layer of the envelope. Copyright © 2018 Elsevier GmbH. All rights reserved.

Articular nodular fasciitis of the right shoulder joint: report of an unusual case with focus on immunohistochemical differential diagnosis.

PubMed

Tajima, Shogo; Zuki, Tomoyukisu; Koda, Kenji

2015-01-01

The mesenchymal lesion nodular fasciitis (NF) can affect various sites of the body but usually arises in subcutaneous tissue or occasionally skeletal muscle. NF is not commonly known to arise in joints, and articular NF is extremely rare. Herein, we present a case of a 54-year-old woman with articular NF. No sign of recurrence was observed after surgical piecemeal removal with a suspected positive surgical margin. In our case, a differential diagnosis of NF, desmoid-type fibromatosis, and low-grade myofibroblastic sarcoma was considered. Stromal hyalinization, a characteristic of articular NF, made the diagnosis somewhat difficult, although typical NF morphology was present. Immunohistochemical analysis of α-smooth muscle actin, desmin, β-catenin, and protein gene product 9.5 expression along with close morphological examination provided a reliable distinction.

[Functional properties of taste bud cells. Mechanisms of afferent neurotransmission in Type II taste receptor cells].

PubMed

Romanov, R A

2013-01-01

Taste Bud cells are heterogeneous in their morphology and functionality. These cells are responsible for sensing a wide variety of substances and for associating detected compounds with a different taste: bitter, sweet, salty, sour and umami. Today we know that each of the five basic tastes corresponds to distinct cell populations organized into three basic morpho-functional cell types. In addition, some receptor cells of the taste bud demonstrate glia-related functions. In this article we expand on some properties of these three morphological receptor cell types. Main focus is devoted to the Type II cells and unusual mechanism for afferent neurotransmission in these cells. Taste cells of the Type II consist of three populations detecting bitter, sweet and umami tastes, and, thus, evoke a serious scientific interest.

Immunohistochemical mismatch in a case of rhabdomyoblastic metastatic melanoma.

PubMed

Dumitru, Adrian Vasile; Tampa, Mircea Ştefan; Georgescu, Simona Roxana; Păunică, Stana; Matei, Clara Nicoleta; Nica, Adriana Elena; Costache, Mariana; Motofei, Ion; Sajin, Maria; Păunică, Ioana; Georgescu, Tiberiu Augustin

2018-01-01

Melanomas can exhibit a wide range of unusual morphologies due to the neural crest origin of melanocytes. Several authors have documented variations in size and shape of cells, cytoplasmic features and inclusions, nuclear features and cell architecture. Metastatic melanoma with rhabdomyoblastic differentiation is an extremely rare condition with poor prognosis. Few studies concerning rhabdoid or rhabdomyoblastic differentiation in melanoma are currently available and the current report highlights some of the most important immunohistochemical features of this rare entity. We report on a case of a rhabdomyoblastic metastatic melanoma showing intense positivity for both melanocytic and rhabdoid markers in two cell populations dissociated within the tumor with multiple mismatches in immunomarker expression. Improved recognition of this rare morphological pattern may provide the means for developing new techniques to identify novel therapeutic targets, which would improve the prognostic outlook for these patients.

Oblique angle deposition-induced anisotropy in Co2FeAl films

NASA Astrophysics Data System (ADS)

Zhou, W.; Brock, J.; Khan, M.; Eid, K. F.

2018-06-01

A series of Co2FeAl Heusler alloy films, fabricated on Si/SiO2 substrates by magnetron sputtering-oblique angle deposition technique, have been investigated by magnetization and transport measurements. The morphology and magnetic anisotropy of the films strongly depended on the deposition angle. While the film deposited at zero degree (i.e. normal incidence) did not show any anisotropy, the films deposited at higher angles showed unusually strong in-plane anisotropy that increased with deposition angle. The enhanced anisotropy was well-reflected in the direction-dependent magnetization and the coercivity of the films that increased dramatically from 30 Oe to 490 Oe. In a similar vein, the electrical resistivity of the films also increased drastically, especially for deposition angles larger than 60°. These anisotropic effects and their relation to the morphology of the films are discussed.

Saddle-shaped reticulate Nummulites from Early Oligocene rocks of Khari area, SW Kutch, India

NASA Astrophysics Data System (ADS)

Sengupta, S.; Sarkar, Sampa; Mukhopadhyay, S.

2011-04-01

Saddle-shaped reticulate Nummulites from the Early Oligocene rocks of Khari area, SW Kutch, India is reported here for the first time. Unusual shape of this Nummulites is due to the curved nature of the coiling plane, indicating space constrained postembryonic test growth. With regular development of chambers, septa and septal filaments, the saddle-shaped Nummulites constitutes the third morphotype of N. cf. fichteli Michelotti form A. Other morphotypes of the species reported earlier include inflated lenticular and conical tests. Multiple morphotypes of N. cf. fichteli form A indicates varied test growth in response to substrate conditions. Morphological variability exhibited by N. cf. fichteli form A from Kutch and some Early Oligocene reticulate Nummulites from the Far East are comparable. This faunal suite is morphologically distinct from the contemporary reticulate Nummulites of the European localities.

Morphology combined with ancillary techniques: An algorithm approach for thyroid nodules.

PubMed

Rossi, E D; Martini, M; Capodimonti, S; Cenci, T; Bilotta, M; Pierconti, F; Pontecorvi, A; Lombardi, C P; Fadda, G; Larocca, L M

2018-04-23

Several authors have underlined the limits of morphological analysis mostly in the diagnosis of follicular neoplasms (FN). The application of ancillary techniques, including immunocytochemistry (ICC) and molecular testing, contributes to a better definition of the risk of malignancy (ROM) and management of FN. According to literature, the application of models, including the evaluation of ICC, somatic mutations (ie, BRAF V 600E ), micro RNA analysis is proposed for FNs. This study discusses the validation of a diagnostic algorithm in FN with a special focus on the role of morphology then followed by ancillary techniques. From June 2014 to January 2016, we enrolled 37 FNs with histological follow-up. In the same reference period, 20 benign nodules and 20 positive for malignancy were selected as control. ICC, BRAF V 600E mutation and miR-375 were carried out on LBC. The 37 FNs included 14 atypia of undetermined significance/follicular lesion of undetermined significance and 23 FN. Specifically, atypia of undetermined significance/follicular lesion of undetermined significance resulted in three goitres, 10 follicular adenomas and one NIFTP whereas FN/suspicious for FN by seven follicular adenomas and 16 malignancies (nine non-invasive follicular thyroid neoplasms with papillary-like nuclear features, two invasive follicular variant of papillary thyroid carcinoma [PTC] and five PTC). The 20 positive for malignancy samples included two invasive follicular variant of PTC, 16 PTCs and two medullary carcinomas. The morphological features of BRAF V 600E mutation (nuclear features of PTC and moderate/abundant eosinophilic cytoplasms) were associated with 100% ROM. In the wild type cases, ROM was 83.3% in presence of a concordant positive ICC panel whilst significantly lower (10.5%) in a negative concordant ICC. High expression values of MirR-375 provided 100% ROM. The adoption of an algorithm might represent the best choice for the correct diagnosis of FNs. The morphological detection of BRAF V 600E represents the first step for the identification of malignant FNs. A significant reduction of unnecessary thyroidectomies is the goal of this application. © 2018 John Wiley & Sons Ltd.

High ferritin levels have major effects on the morphology of erythrocytes in Alzheimer's disease.

PubMed

Bester, Janette; Buys, Antoinette V; Lipinski, Boguslaw; Kell, Douglas B; Pretorius, Etheresia

2013-01-01

Unliganded iron both contributes to the pathology of Alzheimer's disease (AD) and also changes the morphology of erythrocytes (RBCs). We tested the hypothesis that these two facts might be linked, i.e., that the RBCs of AD individuals have a variant morphology, that might have diagnostic or prognostic value. We included a literature survey of AD and its relationships to the vascular system, followed by a laboratory study. Four different microscopy techniques were used and results statistically compared to analyze trends between high and normal serum ferritin (SF) AD individuals. Light and scanning electron microscopies showed little difference between the morphologies of RBCs taken from healthy individuals and from normal SF AD individuals. By contrast, there were substantial changes in the morphology of RBCs taken from high SF AD individuals. These differences were also observed using confocal microscopy and as a significantly greater membrane stiffness (measured using force-distance curves). We argue that high ferritin levels may contribute to an accelerated pathology in AD. Our findings reinforce the importance of (unliganded) iron in AD, and suggest the possibility both of an early diagnosis and some means of treating or slowing down the progress of this disease.

Computer simulation of morphological evolution and rafting of {gamma}{prime} particles in Ni-based superalloys under applied stresses

DOE Office of Scientific and Technical Information (OSTI.GOV)

Li, D.Y.; Chen, L.Q.

Mechanical properties of Ni-based superalloys are strongly affected by the morphology, distribution, and size of {gamma}{prime} precipitates in the {gamma} matrix. The main purpose of this paper is to propose a continuum field approach for modeling the morphology and rafting kinetics of coherent precipitates under applied stresses. This approach can be used to simulate the temporal evolution of arbitrary morphologies and microstructures without any a priori assumption. Recently, the authors applied this approach to the selected variant growth in Ni-Ti alloys under applied stresses using an inhomogeneous modulus approximation. For the {gamma}{prime} precipitates in Ni-based superalloys, the eigenstrain is dilatational,more » and hence the {gamma}{prime} morphological evolution can be affected by applied stresses only when the elastic modulus is inhomogeneous. In the present work, the elastic inhomogeneity was taken into account by reformulating a sharp-interface elasticity theory developed recently by Khachaturyan et al. in terms of diffuse interfaces. Although the present work is for a {gamma}{prime} {minus} {gamma} system, this model is general in a sense that it can be applied to other alloy systems containing coherent ordered intermetallic precipitates with elastic inhomogeneity.« less

DOE Office of Scientific and Technical Information (OSTI.GOV)

Radhakrishnan, Bala; Gorti, Sarma; Babu, Suresh Sudharsanam

Here, we present phase field simulations incorporating energy contributions due to thermodynamics, and anisotropic interfacial and strain energies, to demonstrate the nucleation and growth of multiple variants of alpha from beta in Ti-6Al-4V under isothermal conditions. The simulations focused on the effect of thermodynamic driving force and nucleation rate on the morphology of the transformed alpha assuming that the partitioning of V between beta and alpha is negligible for short isothermal holds. The results indicate that a high nucleation rate favors the formation of the basket-weave structure. However, at a lower nucleation rate the simulations show the intragranular nucleation ofmore » a colony structure by an autocatalytic nucleation mechanism adjacent to a pre-existing alpha variant. New side-plates of the same variant appear to nucleate progressively and grow to form the colony. The isothermal simulation results are used to offer a possible explanation for the transition from a largely basket weave structure to a colony structure inside narrow layer bands occurring during continuous heating and cooling conditions encountered during laser additive manufacturing of Ti-6Al-4V.« less

Anatomic variants in Dandy-Walker complex.

PubMed

Jurcă, Maria Claudia; Kozma, Kinga; Petcheşi, CodruŢa Diana; Bembea, Marius; Pop, Ovidiu Laurean; MuŢiu, Gabriela; Coroi, Mihaela Cristiana; Jurcă, Alexandru Daniel; Dobjanschi, Luciana

2017-01-01

Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. In all four cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging [X-ray, computed tomography (CT), magnetic resonance imaging (MRI)] data. Two patients were diagnosed with Dandy-Walker complex, one patient was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis and one patient was diagnosed with a posterior fossa arachnoid cyst associated with left-sided Claude Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal reflux. In all forms of DWC, the clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures.

Superficial EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion: a new variant of Ewing-like tumors with locoregional lymph node metastasis.

PubMed

Machado, Isidro; Cruz, Julia; Lavernia, Javier; Rubio, Luis; Campos, Jorge; Barrios, María; Grison, Camille; Chene, Virginie; Pierron, Gaelle; Delattre, Olivier; Llombart-Bosch, Antonio

2013-12-01

The present study describes a new case of EWSR1-negative undifferentiated sarcoma with CIC/DUX4 gene fusion. This case is similar to tumors described as primitive undifferentiated round cell sarcomas that occur mainly in the trunk and display an aggressive behavior. To our knowledge, this is the first report of such a tumor presenting locoregional lymph node metastasis. In view of previous studies that prove the existence of a particular variant of undifferentiated sarcoma with Ewing-like morphology and CIC/DUX-4 gene fusion, a search for this gene fusion in all undifferentiated round cell sarcomas should be considered if a conclusive diagnosis cannot be reached following other conventional studies. Although additional cases with more extensive follow-up studies are needed, we believe that EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion should be added to the list of new sarcoma variants with the possibility of lymph node metastasis.

Are neoclassical canons valid for southern Chinese faces?

PubMed

Jayaratne, Yasas S N; Deutsch, Curtis K; McGrath, Colman P J; Zwahlen, Roger A

2012-01-01

Proportions derived from neoclassical canons, initially described by Renaissance sculptors and painters, are still being employed as aesthetic guidelines during the clinical assessment of the facial morphology. 1. to determine the applicability of neoclassical canons for Southern Chinese faces and 2. to explore gender differences in relation to the applicability of the neoclassical canons and their variants. 3-D photographs acquired from 103 young adults (51 males and 52 females) without facial dysmorphology were used to test applicability of four neoclassical canons. Standard anthropometric measurements that determine the facial canons were made on these 3-D images. The validity of the canons as well as their different variants were quantified. The neoclassical cannons seldom applied to these individuals, and facial three-section and orbital canons did not apply at all. The orbitonasal canon was most frequently applicable, with a frequency of 19%. Significant sexual dimorphism was found relative to the prevalence of the variants of facial three-section and orbitonasal canons. The neoclassical canons did not appear to apply to our sample when rigorous quantitative measurements were employed. Thus, they should not be used as esthetic goals for craniofacial surgical interventions.

In Situ Observation of Kinetic Processes of Lath Bainite Nucleation and Growth by Laser Scanning Confocal Microscope in Reheated Weld Metals

NASA Astrophysics Data System (ADS)

Mao, Gaojun; Cao, Rui; Guo, Xili; Jiang, Yong; Chen, Jianhong

2017-12-01

The kinetic processes of nucleation and growth of bainite laths in reheated weld metals are observed and analyzed by a combination of a laser confocal scanning microscope and an electron backscattering diffraction with a field emission scanning electron microscope. The results indicate that the surface relief induced by phase transformation is able to reveal the real microstructural morphologies of bainite laths when viewed from various angles. Five nucleation modes and six types of growth behaviors of bainite laths are revealed. The bainite lath growth rates are measured to vary over a wide range, from 2 μm/s to higher than 2000 μm/s. The orientations of the bainite laths within a prior austenite grain are examined and denoted as different variants. On the basis of variant identification, the reason is analyzed for various growth rates which are demonstrated to be affected by (1) the density of the high-angle misorientation in it, (2) the included angle between habit planes of different variants, and (3) the direction of lath growth with respect to the free (polished) surface.

An X-ray investigation of the unusual supernova remnant CTB 80

NASA Technical Reports Server (NTRS)

Wang, Z. R.; Seward, F. D.

1984-01-01

The X-ray properties of SNR CTB 80 (G68.8 + 2.8) are discussed based on both low- and high-resolution images from the Einstein satellite. The X-ray maps show a point source coinciding with the region of maximum radio emission. Diffuse X-ray emission is evident mainly along the radio lobe extending about 8 arcmin east of the point source and aligned with the projected magnetic field lines. The observed X-ray luminosity is 3.2 x 10 to the 34th ergs/s with 1.0 x 10 to the 3th ergs/s from the point source (assuming a distance of 3 kpc). There is also faint, diffuse, X-ray emission south of the point source, where radio emission is absent. The unusual radio and X-ray morphologies are interpreted as a result of relativistic jets energized by the central object, and the possible association of CTB 80 with SN 1408 as recorded by Chinese observers is discussed.

Unusual thyroid carcinoma with excessive extracellular hyaline globules: a case of "hyalinizing papillary carcinoma".

PubMed

Kondo, Tetsuo; Nakazawa, Tadao; Terada, Nobuo; Nakazawa, Kumiko; Kawasaki, Tomonori; Mochizuki, Kunio; Yamane, Tetsu; Ohno, Shinichi; Katoh, Ryohei

2012-06-01

We present an unusual case of papillary thyroid carcinoma in a 47-year-old Japanese woman. The tumor, 0.8 cm in diameter, was located in the upper left lobe of the thyroid. Histologically, we observed a microfollicular-like and trabecular arrangement of the tumor cells with marked hyalinized stroma and hyaline globules. Immunohistochemically, tumor cells were positive for thyroglobulin and thyroid transcription factor 1. Hyaline stroma and globular bodies were immunopositive for laminin and type IV collagen. MIB-1 index was approximately 1% without membranous immunoreactivity. Under the electron microscope, hyaline stroma and globules showed electron-dense, complex meshwork structures composed of granular and fibrous elements similar to the structure of the lamina densa. Genetic analysis demonstrated a BRAF(V600E) mutation. Based on these findings, we diagnosed the present tumor as a rare morphological variation of papillary thyroid carcinoma with excessive hyaline globules consisting of basal membrane materials. Copyright © 2012 Elsevier Inc. All rights reserved.

Fossilized venom: the unusually conserved venom profiles of Heloderma species (beaded lizards and gila monsters).

PubMed

Koludarov, Ivan; Jackson, Timothy N W; Sunagar, Kartik; Nouwens, Amanda; Hendrikx, Iwan; Fry, Bryan G

2014-12-22

Research into snake venoms has revealed extensive variation at all taxonomic levels. Lizard venoms, however, have received scant research attention in general, and no studies of intraclade variation in lizard venom composition have been attempted to date. Despite their iconic status and proven usefulness in drug design and discovery, highly venomous helodermatid lizards (gila monsters and beaded lizards) have remained neglected by toxinological research. Proteomic comparisons of venoms of three helodermatid lizards in this study has unravelled an unusual similarity in venom-composition, despite the long evolutionary time (~30 million years) separating H. suspectum from the other two species included in this study (H. exasperatum and H. horridum). Moreover, several genes encoding the major helodermatid toxins appeared to be extremely well-conserved under the influence of negative selection (but with these results regarded as preliminary due to the scarcity of available sequences). While the feeding ecologies of all species of helodermatid lizard are broadly similar, there are significant morphological differences between species, which impact upon relative niche occupation.

Endodontic management of mandibular third molar with three mesial roots using spiral computed tomography scan as a diagnostic aid: a case report.

PubMed

Tomar, Deepak; Dhingra, Anil; Tomer, Anil; Sharma, Shalini; Sharma, Vivek; Miglani, Anjali

2013-05-01

Aberrant root canal anatomy is diagnostically and clinically challenging for clinicians. The most common root canal configuration of human molars is 2 roots and 3 canals, but various combinations may still exist. Third molars are known to have the most unusual anatomy among human teeth. Restorative, prosthetic, and orthodontic considerations often require endodontic treatment of third molars in order for them to be retained as functional components of the dental arch. The present case report demonstrates unusual root canal morphology of the mandibular third molar. Roentgenographic examination, which included spiral CT scan, revealed 3 separate mesial roots in tooth #48 with 3 independent canals and 3 canal orifices, indicating an endodontic rarity. The present case report puts impetus on exploration of additional canals using advanced diagnostic aids, such as spiral computed tomography, which can have a huge impact on the successful outcome of endodontic therapy. Copyright © 2013 Elsevier Inc. All rights reserved.

[Granulomatous sporotrichosis: report of two unusual cases].

PubMed

Ramírez-Soto, Max; Lizárraga-Trujillo, José

2013-10-01

Sporotrichosis is a subcutaneous mycosis caused by Sporothrix complex, endemic in Abancay, Peru. Is acquired by traumatic inoculation with plant material. Common clinical presentations are lymphatic cutaneous and fixed cutaneous disease. We report 2 cases of fixed cutaneous sporotrichosis with granulomatous appearance. The first case was a patient of 65 years old with no risk factors and the second case was a 67 year old diabetic patient. Subjects underwent mycological culture with Sabouraud agar, with isolation of Sporothrix schenckii and clinical dignosis of fixed cutaneous sporotrichosis with granulomatous appearance. One patient received oral treatment with saturated solution of potassium iodide (SSKI) with a initial dose of 3 drops tid up to a maximum dose of 40 drops tid. Mycological and clinical cure was achieved after 2 months of treatment. We should consider the unusual clinical presentations of fixed cutaneous sporotrichosis with granulomatous appearance that present morphological and clinical features in diabetic and nondiabetic patients older than 60 years from endemic areas and communicate adequate response to treatment with SSKI in one case.

Vortex arrays and ciliary tangles underlie the feeding-swimming tradeoff in starfish larvae

NASA Astrophysics Data System (ADS)

Gilpin, William; Prakash, Vivek N.; Prakash, Manu

2016-11-01

Many marine invertebrates have larval stages covered in linear arrays of beating cilia, which propel the animal while simultaneously entraining planktonic prey. These bands are strongly conserved across taxa spanning four major superphyla, and they are responsible for the unusual morphologies of many invertebrates. However, few studies have investigated their underlying hydrodynamics. Here, we study the ciliary bands of starfish larvae, and discover a beautiful pattern of slowly-evolving vortices that surrounds the swimming animals. Closer inspection of the bands reveals unusual ciliary "tangles" analogous to topological defects that break-up and re-form as the animal adjusts its swimming stroke. Quantitative experiments and modeling demonstrate that these vortices create a physical tradeoff between feeding and swimming in heterogenous environments, which manifests as distinct flow patterns or "eigenstrokes" representing each behavior-potentially implicating neuronal control of cilia. This quantitative interplay between larval form and hydrodynamic function generalizes to other invertebrates, and illustrates the potential effects of active boundary conditions in other biological and synthetic systems.

Morphological Evolution of Block Copolymer Particles: Effect of Solvent Evaporation Rate on Particle Shape and Morphology.

PubMed

Shin, Jae Man; Kim, YongJoo; Yun, Hongseok; Yi, Gi-Ra; Kim, Bumjoon J

2017-02-28

Shape and morphology of polymeric particles are of great importance in controlling their optical properties or self-assembly into unusual superstructures. Confinement of block copolymers (BCPs) in evaporative emulsions affords particles with diverse structures, including prolate ellipsoids, onion-like spheres, oblate ellipsoids, and others. Herein, we report that the evaporation rate of solvent from emulsions encapsulating symmetric polystyrene-b-polybutadiene (PS-b-PB) determines the shape and internal nanostructure of micron-sized BCP particles. A distinct morphological transition from the ellipsoids with striped lamellae to the onion-like spheres was observed with decreasing evaporation rate. Experiments and dissipative particle dynamics (DPD) simulations showed that the evaporation rate affected the organization of BCPs at the particle surface, which determined the final shape and internal nanostructure of the particles. Differences in the solvent diffusion rates in PS and PB at rapid evaporation rates induced alignment of both domains perpendicular to the particle surface, resulting in ellipsoids with axial lamellar stripes. Slower evaporation rates provided sufficient time for BCP organization into onion-like structures with PB as the outermost layer, owing to the preferential interaction of PB with the surroundings. BCP molecular weight was found to influence the critical evaporation rate corresponding to the morphological transition from ellipsoid to onion-like particles, as well as the ellipsoid aspect ratio. DPD simulations produced morphologies similar to those obtained from experiments and thus elucidated the mechanism and driving forces responsible for the evaporation-induced assembly of BCPs into particles with well-defined shapes and morphologies.

Signet-ring cell lymphoma: clinicopathologic, immunohistochemical, and fluorescence in situ hybridization studies of 7 cases.

PubMed

Zhang, Shanxiang; Sun, Jihong; Fang, Yanan; Nassiri, Mehdi; Liu, Lanting; Zhou, Jiehao; Stohler, Ryan; Choi, Haki; Vance, Gail H

2017-02-01

Signet-ring cell lymphoma (SRCL) is a rare morphologic variant of non-Hodgkin lymphoma. Although it was initially reported as a rare morphologic variant of follicular lymphoma (FL), SRCL has to date been described in most types of non-Hodgkin lymphoma, mostly as single-case reports. To study SRCL systematically by immunohistochemical stains and fluorescent in situ hybridization analyses. Seven SRCL cases were stained for CD3, CD5, CD20, PAX-5, CD10, CD21, CD23, cyclin D1, BCL2, BCL6, Ki-67, and MUM-1, and were analyzed by fluorescent in situ hybridization for BCL2, BCL6, MYC, and MALT1 rearrangements. Clinical information and patient outcome were reviewed in all patients. The patients were 3 women and 3 men, ranging in age from 31 to 75 years (average 60.3 years). The lesions involved lymph nodes, tonsil, parotid gland, soft tissue, and breast. There were 4 FLs, 1 diffuse large B-cell lymphoma (DLBCL), 1 DLBCL with FL, and 1 DLBCL with marginal zone lymphoma. All cases had typical signet-ring cell morphology. They were positive for CD20 and BCL-2, and had low-to-intermediate Ki-67 proliferation index (10%-40%) except in the parotid DLBCL with FL (70%). BCL-6 was detected in all but 1 FL (6/7). Fluorescent in situ hybridization detected IGH/BCL2 translocation in 1 FL, increased BCL6 copy number in another FL, BCL6 rearrangement, and increased copy number of MYC and MALT1 in the DLBCL with marginal zone lymphoma. The FL with signet-ring cell morphology (1/5) tends to lack IGH/BCL2 translocation, and an extended immunohistochemical study is recommended for correct diagnosis and classification of SRCL. Copyright © 2016 Elsevier Inc. All rights reserved.

Behavioral Consequences of Kainic Acid Lesions and Fetal Transplants of the Striatum

DTIC Science & Technology

1984-06-12

Selected sections were also stained with cresyl violet in order to facilitate the visualization of neuronal cytology and morphology. All sections...tendency to mutism and depression with frequent suicidal ideation (Bruyn, 1973). The Westphal variant of HD, also called the rigid-hypokinetic...1978). In situ injections of kainic acid: A new method for selectively lesioning neuronal cell bodies while sparing axons of passage. Journal of

Dual Anterograde and Retrograde Viral Tracing of Reciprocal Connectivity.

PubMed

Haberl, Matthias G; Ginger, Melanie; Frick, Andreas

2017-01-01

Current large-scale approaches in neuroscience aim to unravel the complete connectivity map of specific neuronal circuits, or even the entire brain. This emerging research discipline has been termed connectomics. Recombinant glycoprotein-deleted rabies virus (RABV ∆G) has become an important tool for the investigation of neuronal connectivity in the brains of a variety of species. Neuronal infection with even a single RABV ∆G particle results in high-level transgene expression, revealing the fine-detailed morphology of all neuronal features-including dendritic spines, axonal processes, and boutons-on a brain-wide scale. This labeling is eminently suitable for subsequent post-hoc morphological analysis, such as semiautomated reconstruction in 3D. Here we describe the use of a recently developed anterograde RABV ∆G variant together with a retrograde RABV ∆G for the investigation of projections both to, and from, a particular brain region. In addition to the automated reconstruction of a dendritic tree, we also give as an example the volume measurements of axonal boutons following RABV ∆G-mediated fluorescent marker expression. In conclusion RABV ∆G variants expressing a combination of markers and/or tools for stimulating/monitoring neuronal activity, used together with genetic or behavioral animal models, promise important insights in the structure-function relationship of neural circuits.

Current status of the genetics and molecular taxonomy of Echinococcus species.

PubMed

McManus, D P

2013-11-01

The taxonomy of Echinococcus has long been controversial. Based mainly on differences in morphology and host-parasite specificity characteristics, 16 species and 13 subspecies were originally described. Subsequently, most of these taxa were regarded as synonyms for Echinococcus granulosus and only 4 valid species were recognised: E. granulosus; E. multilocularis; E. oligarthrus and E. vogeli. But, over the past 50 years, laboratory and field observations have revealed considerable phenotypic variability between isolates of Echinococcus, particularly those of E. granulosus, which include differences in: morphology in both larval and adult stages, development in vitro and in vivo, host infectivity and specificity, chemical composition, metabolism, proteins and enzymes, pathogenicity and antigenicity. The application of molecular tools has revealed differences in nucleic acid sequences that reflect this phenotypic variation and the genetic and phenotypic characteristics complement the previous observations made by the descriptive parasitologists many years ago. The fact that some of these variants or strains are poorly or not infective to humans has resulted in a reappraisal of the public health significance of Echinococcus in areas where such variants occur. A revised taxonomy for species in the Echinococcus genus has been proposed that is generally accepted, and is based on the new molecular data and the biological and epidemiological characteristics of host-adapted species and strains.

Weird planets and odd relations: Atmospheric Circulation on Hot Jupiters

NASA Astrophysics Data System (ADS)

Zhang, Michael; Knutson, Heather; Kataria, Tiffany; Burrows, Adam; Fortney, Jonathan

2018-01-01

We extract phase curves from Spitzer photometry for the highly irradiated hot Jupiter WASP-33b and the unusually dense Saturn-mass planet HD 149026b. To do so, we develop a new variant of Pixel Level Decorrelation that is effective at removing intrapixel sensitivity variations for long observations (> 10 hours) where the position of the star can vary by a significant fraction of a pixel. Using this algorithm, we derive eclipse depths, phase amplitudes, and phase offsets for both planets at 3.6 um and 4.5 um. We use a simple toy model to show that WASP-33b's phase offset, albedo, and heat recirculation efficiency are largely similar to those of other hot Jupiters despite its very high irradiation. On the other hand, our fits for HD 149026b prefer a very high albedo and an unusually high recirculation efficiency. We also compare our results to predictions from GCM models, and find that while neither provide a good match to the data, the discrepancies for HD 149026b are unusually large. We speculate that this may be related to its high bulk metallicity, which could lead to enhanced atmospheric opacities and the formation of reflective cloud layers in localized regions of the atmosphere. We then place these two planets in a broader context by exploring relationships between the temperatures, albedos, efficiencies, and phase offsets of all planets with published thermal phase curves. We find a striking relationship between phase offset and irradiation temperature--the former dips with temperature until around 3300 K, and rises thereafter. Although some aspects of this trend are mirrored in GCM models, there are notable differences that provide important clues for future modeling efforts.

Two ways of legumin-precursor processing in conifers. Characterization and evolutionary relationships of Metasequoia cDNAs representing two divergent legumin gene subfamilies.

PubMed

Häger, K P; Wind, C

1997-06-15

Subunit monomers and oligomers of crystalloid-type legumins are major components of SDS-soluble fractions from Metasequoia glyptostroboides (Dawn redwood, Taxodiaceae) seed proteins. The subunits are made up of disulfide linked alpha-polypeptides and beta-polypeptides with molecular masses of 33 kDa and 23-25 kDa, respectively. Unusually for legumins, those from Metasequoia are glycosylated and the carbohydrate moieties are residing in the C-terminal region of the respective beta-polypeptides. A Metasequoia endosperm cDNA library has been constructed and legumin-encoding transcripts representing two divergent gene subfamilies have been characterized. Intersubfamily comparisons reveal 75% identity at the amino acid level and the values range from 53-35% when the legumin precursors deduced were compared with those from angiosperms. The predicted sequences together with data from amino acid sequencing prove that post-translational processing of Metasequoia prolegumins is directed to two different processing sites, each of them specific for one of the legumin subfamilies. The sites involved differ in their relative position and in the junction to be cleaved: Metasequoia legumin precursors MgLeg18 and MgLeg26 contain the conventional post-translational Asn-Gly processing site, which is generally regarded as highly conserved. In contrast, the MgLeg4 precursor is lacking this site and post-translational cleavage is directed to an unusual Asn-Thr processing site located in its hypervariable region, causing N-terminal extension of the beta-polypeptide relative to those hitherto known. Evidence is given that the unusual variant of processing also occurs in other conifers. Phylogenetic analysis reveals the precursors concerned as representatives of a distinct legumin subfamily, originating from duplication of an ancestral gene prior to or at the beginning of Taxodiaceae diversification.

Progressive Outer Retinal Necrosis Combined with Vitreous Hemorrhage in a Patient with Acquired Immunodeficiency Syndrome

PubMed Central

You, Yong Sung; Lee, Sung Jin; Lee, Sung Ho; Park, Chang Hyun

2007-01-01

Purpose To describe an unusual case of rapidly progressive outer retinal necrosis (PORN) with vitreous hemorrhage in a 41-year-old woman with acquired immunodeficiency syndrome (AIDS), who had retinitis developed from what was probably varicellar-zoster virus combined with cytomegalovirus (CMV) and herpes simplex type 1,2, as proven by the polymerase chain reaction restriction fragment length polymorphism method (PCR-RFLP). Methods This study is a case report detailing clinical follow-up and an aqueous humor test by PCR-RFLP. Results The deep, white retinal lesions coalesced and progressively expanded in a circumferential manner, with sparing of the perivascular retina. However, retinal and vitreous hemorrhages, unusual findings for PORN, could be noted around the optic nerve. Varicellar-zoster virus (VZV), cytomegalovirus (CMV), and herpes simplex types 1,2 (HSV-1,2) were detected in the aqueous humor by PCR. Conclusions PORN has been described as a variant of necrotizing herpetic retinopathy, occurring particularly in patients with AIDS. Although the etiologic agent has been reported to be VZV, concurrent or combined etiologic agents can include HSV-1, HSV-2, and CMV in AIDS patients. Therefore, combined antiviral therapy with acyclovir and ganciclovir could be more reasonable as an initial therapy. PMID:17460434

Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians.

PubMed

Acuña, M; Eaton, L; Ramírez, N R; Cifuentes, L; Llop, E

2003-05-01

We estimated the frequencies of serum butyrylcholinesterase (BChE) alleles in three tribes of Mapuche Indians from southern Chile, using enzymatic methods, and we estimated the frequency of allele BCHE*K in one tribe using primer reduced restriction analysis (PCR-PIRA). The three tribes have different degrees of European admixture, which is reflected in the observed frequencies of the atypical allele BCHE*A: 1.11% in Huilliches, 0.89% in Cuncos, and 0% in Pehuenches. This result is evidence in favor of the hypothesis that BCHE*A is absent in native Amerindians. The frequencies of BCHE*F were higher than in most reported studies (3.89%, 5.78%, and 4.41%, respectively). These results are probably due to an overestimation of the frequency of allele BCHE*F, since none of the 20 BCHE UF individuals (by the enzymatic test) individuals analyzed showed either of the two DNA base substitutions associated with this allele. Although enzymatic methods rarely detect the presence of allele BCHE*K, PCR-PIRA found the allele in an appreciable frequency (5.76%), although lower than that found in other ethnic groups. Since observed frequencies of unusual alleles correspond to estimated percentages of European admixture, it is likely that none of these unusual alleles were present in Mapuche Indians before the arrival of Europeans. Copyright 2003 Wiley-Liss, Inc.

Female-patterned alopecia in teenage brothers with unusual histologic features.

PubMed

Carlson, J Andrew; Malysz, Jozef; Schwartz, Joseph

2006-11-01

Patterned hair loss, follicular miniaturization, and increased telogen hair counts characterize androgenic alopecia (AGA). Follicular inflammation in AGA has been associated with treatment resistance and progressive hair loss. Brothers, 15 and 18 years old, presented with frontal and mid-scalp hair loss with an intact frontal hairline noted over a 1-year period. The elder reported past use of androgenic steroids. Laboratory assessment for metabolic and hormonal abnormalities was unrevealing, and hair pull test was negative. Scalp biopsies revealed decreased terminal hairs, marked diameter variation of anagen hairs, decreased terminal to vellus hair ratios (3.7:1/3.4:1, older/younger), and increased telogen counts (23%/21%). Infrabulbar and peri-isthmic (follicular bulge region) lymphocytic infiltrates were present. Hair loss has progressed, unabated by daily topical 0.5% clobetasol (for 6 months), daily 5% minoxidil (1 year), and latter, daily oral finasteride (2 years - older brother only). Based on patterned hair loss and miniaturized hairs, these brothers have AGA. The female pattern of hair loss (diffuse hair loss affecting the central scalp with preservation of frontal hair line) coupled with follicular isthmic lymphocytic inflammation represents an unusual presentation, possibly a treatment resistant, inflammatory variant of AGA. The differential diagnosis includes exogenous androgen-mediated hair loss, cicatricial pattern hair loss, or the superimposition of alopecia areata.

NLP is a novel transcription regulator involved in VSG expression site control in Trypanosoma brucei.

PubMed

Narayanan, Mani Shankar; Kushwaha, Manish; Ersfeld, Klaus; Fullbrook, Alexander; Stanne, Tara M; Rudenko, Gloria

2011-03-01

Trypanosoma brucei mono-allelically expresses one of approximately 1500 variant surface glycoprotein (VSG) genes while multiplying in the mammalian bloodstream. The active VSG is transcribed by RNA polymerase I in one of approximately 15 telomeric VSG expression sites (ESs). T. brucei is unusual in controlling gene expression predominantly post-transcriptionally, and how ESs are mono-allelically controlled remains a mystery. Here we identify a novel transcription regulator, which resembles a nucleoplasmin-like protein (NLP) with an AT-hook motif. NLP is key for ES control in bloodstream form T. brucei, as NLP knockdown results in 45- to 65-fold derepression of the silent VSG221 ES. NLP is also involved in repression of transcription in the inactive VSG Basic Copy arrays, minichromosomes and procyclin loci. NLP is shown to be enriched on the 177- and 50-bp simple sequence repeats, the non-transcribed regions around rDNA and procyclin, and both active and silent ESs. Blocking NLP synthesis leads to downregulation of the active ES, indicating that NLP plays a role in regulating appropriate levels of transcription of ESs in both their active and silent state. Discovery of the unusual transcription regulator NLP provides new insight into the factors that are critical for ES control.

Whole Exome Sequencing of Pediatric Gastric Adenocarcinoma Reveals an Atypical Presentation of Li-Fraumeni Syndrome

PubMed Central

Chang, Vivian Y.; Federman, Noah; Martinez-Agosto, Julian; Tatishchev, Sergei F.; Nelson, Stanley F.

2014-01-01

Background Gastric adenocarcinoma is a rare diagnosis in childhood. A 14-year old male patient presented with metastatic gastric adenocarcinoma, and a strong family history of colon cancer. Clinical sequencing of CDH1 and APC were negative. Whole exome sequencing was therefore applied to capture the majority of protein-coding regions for the identification of single-nucleotide variants, small insertion/deletions, and copy number abnormalities in the patient’s germline as well as primary tumor. Materials and Methods DNA was extracted from the patient’s blood, primary tumor, and the unaffected mother’s blood. DNA libraries were constructed and sequenced on Illumina HiSeq2000. Data were post-processed using Picard and Samtools, then analyzed with the Genome Analysis Toolkit. Variants were annotated using an in-house Ensembl-based program. Copy number was assessed using ExomeCNV. Results Each sample was sequenced to a mean depth of coverage of greater than 120×. A rare non-synonymous coding SNV in TP53 was identified in the germline. There were 10 somatic cancer protein-damaging variants that were not observed in the unaffected mother genome. ExomeCNV comparing tumor to the patient’s germline, identified abnormal copy number, spanning 6,946 genes. Conclusion We present an unusual case of Li-Fraumeni detected by whole exome sequencing. There were also likely driver somatic mutations in the gastric adenocarcinoma. These results highlight the need for more thorough and broad scale germline and cancer analyses to accurately inform patients of inherited risk to cancer and to identify somatic mutations. PMID:23015295

Structures of the flax-rust effector AvrM reveal insights into the molecular basis of plant-cell entry and effector-triggered immunity.

PubMed

Ve, Thomas; Williams, Simon J; Catanzariti, Ann-Maree; Rafiqi, Maryam; Rahman, Motiur; Ellis, Jeffrey G; Hardham, Adrienne R; Jones, David A; Anderson, Peter A; Dodds, Peter N; Kobe, Bostjan

2013-10-22

Fungal and oomycete pathogens cause some of the most devastating diseases in crop plants, and facilitate infection by delivering a large number of effector molecules into the plant cell. AvrM is a secreted effector protein from flax rust (Melampsora lini) that can internalize into plant cells in the absence of the pathogen, binds to phosphoinositides (PIPs), and is recognized directly by the resistance protein M in flax (Linum usitatissimum), resulting in effector-triggered immunity. We determined the crystal structures of two naturally occurring variants of AvrM, AvrM-A and avrM, and both reveal an L-shaped fold consisting of a tandem duplicated four-helix motif, which displays similarity to the WY domain core in oomycete effectors. In the crystals, both AvrM variants form a dimer with an unusual nonglobular shape. Our functional analysis of AvrM reveals that a hydrophobic surface patch conserved between both variants is required for internalization into plant cells, whereas the C-terminal coiled-coil domain mediates interaction with M. AvrM binding to PIPs is dependent on positive surface charges, and mutations that abrogate PIP binding have no significant effect on internalization, suggesting that AvrM binding to PIPs is not essential for transport of AvrM across the plant membrane. The structure of AvrM and the identification of functionally important surface regions advance our understanding of the molecular mechanisms underlying how effectors enter plant cells and how they are detected by the plant immune system.

Hydroa vacciniforme-like lymphoma with primarily periorbital swelling: 7 cases of an atypical clinical manifestation of this rare cutaneous T-cell lymphoma.

PubMed

Plaza, Jose A; Sangueza, Martin

2015-01-01

Hydroa vacciniforme-like lymphoma (HVL) is a rare cutaneous T-cell lymphoma that is usually seen in children of Hispanic or Asian origin. Association between chronic latent Epstein-Barr virus infection in both hydroa vacciniforme (HV) and HVL has been demonstrated and has recently been categorized by the World Health Organization as one of the Epstein Barr virus-positive lymphoproliferative disorders of childhood. Patients with HVL present with a cutaneous rash characterized by edema, blisters, ulcers, and scars mainly seen on the face and extremities that mimic HV; however, unlike in HV, the lesions tend to be extensive and deeper and are associated with severe scarring, necrosis, and systemic manifestations. We are reporting 7 cases of an unusual clinical variant of HVL with primarily periorbital edema. All of our patients in this series presented with progressive periorbital edema that was accompanied with systemic symptoms including fever, malaise, and lymphadenopathy. Most cases were initially misinterpreted as inflammatory processes including cellulitis, arthropod bite reactions, and periorbital lupus erythematosus. The biopsy of these lesions revealed an atypical lymphocytic infiltrate predominantly distributed in the deep dermis and in subcutaneous fat. Immunohistochemistry studies revealed a cytotoxic T-cell (CD8) profile. All cases were associated with Epstein-Barr virus infection. Our study presents a rare clinical variant of HVL with predominant periorbital edema. This variant could potentially be overlooked and misdiagnosed as an inflammatory condition; thus, it needs to be included in the differential diagnosis of periorbital edema in young patients.

Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations

PubMed Central

Ko, Wen-Ya; Rajan, Prianka; Gomez, Felicia; Scheinfeldt, Laura; An, Ping; Winkler, Cheryl A.; Froment, Alain; Nyambo, Thomas B.; Omar, Sabah A.; Wambebe, Charles; Ranciaro, Alessia; Hirbo, Jibril B.; Tishkoff, Sarah A.

2013-01-01

Disease susceptibility can arise as a consequence of adaptation to infectious disease. Recent findings have suggested that higher rates of chronic kidney disease (CKD) in individuals with recent African ancestry might be attributed to two risk alleles (G1 and G2) at the serum-resistance-associated (SRA)-interacting-domain-encoding region of APOL1. These two alleles appear to have arisen adaptively, possibly as a result of their protective effects against human African trypanosomiasis (HAT), or African sleeping sickness. In order to explore the distribution of potential functional variation at APOL1, we studied nucleotide variation in 187 individuals across ten geographically and genetically diverse African ethnic groups with exposure to two Trypanosoma brucei subspecies that cause HAT. We observed unusually high levels of nonsynonymous polymorphism in the regions encoding the functional domains that are required for lysing parasites. Whereas allele frequencies of G2 were similar across all populations (3%–8%), the G1 allele was only common in the Yoruba (39%). Additionally, we identified a haplotype (termed G3) that contains a nonsynonymous change at the membrane-addressing-domain-encoding region of APOL1 and is present in all populations except for the Yoruba. Analyses of long-range patterns of linkage disequilibrium indicate evidence of recent selection acting on the G3 haplotype in Fulani from Cameroon. Our results indicate that the G1 and G2 variants in APOL1 are geographically restricted and that there might be other functional variants that could play a role in HAT resistance and CKD risk in African populations. PMID:23768513

Radix mesiolingualis and radix distolingualis: a case report of a tooth with an unusual morphology

PubMed Central

Aeran, Himanshu; Singh, Inderpreet

2016-01-01

Variation in the root and canal morphology of the maxillary first molars is quite common. The most common configuration is 3 roots and 3 or 4 canals. Nonetheless, other possibilities still exist. The presence of an additional palatal root is rather uncommon and has been reported to have an incidence of 0.06 - 1.6% in varying populations studied. Whenever two palatal roots exist, one of them is the normal palatal root, the other is a supernumerary structure which can be located either mesiolingually (radix mesiolingualis) or distolingually (radix distolingualis). This case report describes successful endodontic treatment of a maxillary first molar with radix mesiolingualis and radix distolingualis. Identification of this variation was done through clinical examination along with the aid of multiangled radiographs, and an accurate assessment of this morphology was made with the help of a cone-beam computed tomography imaging. In addition to the literature review, this article also discusses the epidemiology, classifications, morphometric features, guidelines for diagnosis, and endodontic management of a maxillary first molar with extra-palatal root. PMID:27847755

Endodontic treatment of a mandibular second premolar with three root canals.

PubMed

Aguiar, Carlos; Mendes, Daniela; Câmara, Andréa; Figueiredo, Jose

2010-03-01

The purpose of this case report is to describe a nonsurgical endodontic treatment of a mandibular left second premolar with two separate roots and three distinct root canals. In endodontics, the possible existence of extra canals must be considered before endodontic treatment is instituted. A wide morphological variation of the root canal system is known to exist. A 36-year-old male patient was referred for endodontic treatment on the left mandibular second premolar. Radiographic examination of the involved tooth revealed an unusual, complex root canal anatomy. There was an irregular root morphology consisting of two distinct roots and three canals. This case report describes the successful nonsurgical endodontic treatment of a mandibular left second premolar with two separate roots and three distinct root canals filled using size 35 Thermafil gutta-percha carriers and AH Plus sealer. On the one-year follow-up radiograph, the tooth was asymptomatic, confirming adequate healing with no complications. Even in a tooth with an extremely complex root canal morphology, conventional endodontic treatment without surgical intervention can result in adequate healing without any complications.

Magnetite and magnetite/silver core/shell nanoparticles with diluted magnet-like behavior

DOE Office of Scientific and Technical Information (OSTI.GOV)

Garza-Navarro, Marco; Torres-Castro, Alejandro, E-mail: alejandro.torrescs@uanl.edu.m; Centro de Innovacion, Investigacion y Desarrollo en Ingenieria y Tecnologia, Universidad Autonoma de Nuevo Leon, Apodaca, Nuevo Leon 66600

2010-01-15

In the present work is reported the use of the biopolymer chitosan as template for the preparation of magnetite and magnetite/silver core/shell nanoparticles systems, following a two step procedure of magnetite nanoparticles in situ precipitation and subsequent silver ions reduction. The crystalline and morphological characteristics of both magnetite and magnetite/silver core/shell nanoparticles systems were analyzed by high resolution transmission electron microscopy (HRTEM) and nanobeam diffraction patterns (NBD). The results of these studies corroborate the core/shell morphology and the crystalline structure of the magnetite core and the silver shell. Moreover, magnetization temperature dependent, M(T), measurements show an unusual diluted magnetic behaviormore » attributed to the dilution of the magnetic ordering in the magnetite and magnetite/silver core/shell nanoparticles systems. - Graphical abstract: Biopolymer chitosan was used as stabilization media to synthesize both magnetite and magnetite/silver core/shell nanoparticles. Results of HRTEM and NBD patterns confirm core/shell morphology of the obtained nanoparticles. It was found that the composites show diluted magnet-like behavior.« less

LiCoO2 Concaved Cuboctahedrons from Symmetry-Controlled Topological Reactions

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chen, H.; Wu, L.; Zhang, L.

2011-01-19

Morphology control of functional materials is generally performed by controlling the growth rates on selected orientations or faces. Here, we control particle morphology by 'crystal templating': by choosing appropriate precursor crystals and reaction conditions, we demonstrate that a material with rhombohedral symmetry - namely the layered, positive electrode material, LiCoO{sub 2} - can grow to form a quadruple-twinned crystal with overall cubic symmetry. The twinned crystals show an unusual, concaved-cuboctahedron morphology, with uniform particle sizes of 0.5-2 {micro}m. On the basis of a range of synthetic and analytical experiments, including solid-state NMR, X-ray powder diffraction analysis and HRTEM, we proposemore » that these twinned crystals form via selective dissolution and an ion-exchange reaction accompanied by oxidation of a parent crystal of CoO, a material with cubic symmetry. This template crystal serves to nucleate the growth of four LiCoO{sub 2} twin crystals and to convert a highly anisotropic, layered material into a pseudo-3-dimensional, isotropic material.« less

Morphology and chemical composition of cobalt germanide islands on Ge(001).

PubMed

Ewert, M; Schmidt, Th; Flege, J I; Heidmann, I; Grzela, T; Klesse, W M; Foerster, M; Aballe, L; Schroeder, T; Falta, J

2016-08-12

The reactive growth of cobalt germanide on Ge(001) was investigated by means of in situ x-ray absorption spectroscopy photoemission electron microscopy (XAS-PEEM), micro-illumination low-energy electron diffraction (μ-LEED), and ex situ atomic force microscopy (AFM). At a Co deposition temperature of 670 °C, a rich morphology with different island shapes and dimensions is observed, and a correlation between island morphology and stoichiometry is found. By combining XAS-PEEM and μ-LEED, we were able to identify a large part of the islands to consist of CoGe2, with many of them having an unusual epitaxial relationship: CoGe2 [Formula: see text] [Formula: see text] Ge [Formula: see text]. Side facets with (112) and (113) orientation have been found for such islands. However, two additional phases were observed, most likely Co5Ge7 and CoGe. Comparing growth on Ge(001) single crystals and on Ge(001)/Si(001) epilayer substrates, the occurrence of these intermediate phases seems to be promoted by defects or residual strain.

Successful Identification of Clinical Dermatophyte and Neoscytalidium Species by Matrix-Assisted Laser Desorption Ionization–Time of Flight Mass Spectrometry

PubMed Central

Alshawa, Kinda; Beretti, Jean-Luc; Lacroix, Claire; Feuilhade, Martine; Dauphin, Brunhilde; Quesne, Gilles; Hassouni, Noura; Nassif, Xavier

2012-01-01

Dermatophytes are keratinolytic fungi responsible for a wide variety of diseases of glabrous skin, nails, and hair. Their identification, currently based on morphological criteria, is hindered by intraspecies morphological variability and the atypical morphology of some clinical isolates. The aim of this study was to evaluate matrix-assisted laser desorption ionization–time of flight mass spectrometry (MALDI-TOF MS) as a routine tool for identifying dermatophyte and Neoscytalidium species, both of which cause dermatomycoses. We first developed a spectral database of 12 different species of common and unusual dermatophytes and two molds responsible for dermatomycoses (Neoscytalidium dimidiatum and N. dimidiatum var. hyalinum). We then prospectively tested the performance of the database on 381 clinical dermatophyte and Neoscytalidium isolates. Correct identification of the species was obtained for 331/360 dermatophytes (91.9%) and 18/21 Neoscytalidium isolates (85.7%). The results of MALDI-TOF MS and standard identification disagreed for only 2 isolates. These results suggest that MALDI-TOF MS could be a useful tool for routine and fast identification of dermatophytes and Neoscytalidium spp. in clinical mycology laboratories. PMID:22535981

Polymorphisms of pesticide-metabolizing genes in children living in intensive farming communities.

PubMed

Gómez-Martín, Antonio; Hernández, Antonio F; Martínez-González, Luis Javier; González-Alzaga, Beatriz; Rodríguez-Barranco, Miguel; López-Flores, Inmaculada; Aguilar-Garduno, Clemente; Lacasana, Marina

2015-11-01

Polymorphisms in genes encoding xenobiotic-metabolizing enzymes (XME) are important parameters accounting for the wide inter-individual variability to environmental exposures. Paraoxonase-1 (PON1), butyrylcholinesterase (BChE) and Cytochrome-P450 constitute major classes of XME involved in the detoxification of pesticide chemicals, in particular organophosphates. This study explored the allelic frequency, linkage disequilibrium and haplotype analysis of ten common polymorphic variants of seven key genes involved in organophosphate metabolism (BCHE-K, BCHE-A, PON1 Q192R, PON1 L55M, PON1 -108C/T, CYP2C19 G681A, CYP2D6 G1846A, CYP3AP1 -44G/A, GSTM1∗0 and GSTT1∗0) in a children population living near an intensive agriculture area in Spain. It was hypothesized that individuals with unfavorable combinations of gene variants will be more susceptible to adverse effects from organophosphate exposure. Genomic DNA from 496 healthy children was isolated and amplified by PCR. Hydrolysis probes were used for the detection of eight specific SNPs and two copy number variants (CNVs) by using TaqMan® Assay-based real-time PCR. Frequencies of SNPs and CNVs in the target genes were in Hardy-Weinberg equilibrium and broadly consistent with European populations. Linkage disequilibrium was found between the three PON1 genetic polymorphisms studied and between BCHE-K and BCHE-A. The adverse genotype combination (unusual BCHE variants, PON1 55MM/-108TT and null genotype for both GSTM1 and GSTT1) potentially conferring a greater genetic risk from exposure to organophosphates was observed in 0.2% of our study population. This information allows broadening our knowledge about differential susceptibility toward environmental toxicants and may be helpful for further research to understand the inter-individual toxicokinetic variability in response to organophosphate pesticides exposure. Copyright © 2015 Elsevier Ltd. All rights reserved.

Paratesticular desmoplastic small round cell tumour: an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH.

PubMed

Cliteur, Vincent Pm; Szuhai, Károly; Baelde, Hans J; van Dam, Jurriaan; Gelderblom, Hans; Hogendoorn, Pancras Cw

2012-01-25

Desmoplastic small round cell tumour is a rare malignant tumour with a male to female ratio of 4:1. It manifests mostly at serosal sites. Here we present a case of a 28-year-old male patient, who presented with a fast growing paratesticular mass. On biopsy nests and cords of small round cells, without a clear morphological lineage of differentiation were seen. Occasionally desmoplatic small round cell tumour shows different lines of differentiation. An unequivocal histological diagnosis might be difficult in such cases. Here we demonstrate by a combination of methods the characteristic immunohistochemical profile and - albeit unusual - molecular background and discuss the eventual link with Ewing sarcoma.Immunohistochemical studies showed a membranous staining of Keratine AE1/3 and a dot-like staining of Desmine, confirming its diagnosis. Using COBRA-FISH following a metaphase approach we demonstrated a balanced translocation, t(11;22)(p13;q12) and in RT-PCR formation of the EWSR1-WT1 fusion product, a specific translocation of desmoplastic round cell tumour. The fusion involves exon 9 of EWSR1 to exon 8 of WT1, an unusual fusion product, though earlier described in a case of a desmoplastic small round cell tumour of the hand. The EWSR1-WT1 chimera seems to function as an oncogenic transcription factor. Here the zinc finger domain of the WT1 acts with affinity with certain promoter domains influencing the expression of various downstream proteins such as: PDGFA, PAX2, insulin-like growth factor 1 receptor, epidermal growth factor receptor, IL2 receptor beta, BAIAP3, MLF1, TALLA-1, LRRC15 and ENT. We discuss their potential oncogenic roles and potential therapeutic consequences.

Paratesticular desmoplastic small round cell tumour: an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH

PubMed Central

2012-01-01

Desmoplastic small round cell tumour is a rare malignant tumour with a male to female ratio of 4:1. It manifests mostly at serosal sites. Here we present a case of a 28-year-old male patient, who presented with a fast growing paratesticular mass. On biopsy nests and cords of small round cells, without a clear morphological lineage of differentiation were seen. Occasionally desmoplatic small round cell tumour shows different lines of differentiation. An unequivocal histological diagnosis might be difficult in such cases. Here we demonstrate by a combination of methods the characteristic immunohistochemical profile and - albeit unusual - molecular background and discuss the eventual link with Ewing sarcoma. Immunohistochemical studies showed a membranous staining of Keratine AE1/3 and a dot-like staining of Desmine, confirming its diagnosis. Using COBRA-FISH following a metaphase approach we demonstrated a balanced translocation, t(11;22)(p13;q12) and in RT-PCR formation of the EWSR1-WT1 fusion product, a specific translocation of desmoplastic round cell tumour. The fusion involves exon 9 of EWSR1 to exon 8 of WT1, an unusual fusion product, though earlier described in a case of a desmoplastic small round cell tumour of the hand. The EWSR1-WT1 chimera seems to function as an oncogenic transcription factor. Here the zinc finger domain of the WT1 acts with affinity with certain promoter domains influencing the expression of various downstream proteins such as: PDGFA, PAX2, insulin-like growth factor 1 receptor, epidermal growth factor receptor, IL2 receptor beta, BAIAP3, MLF1, TALLA-1, LRRC15 and ENT. We discuss their potential oncogenic roles and potential therapeutic consequences. PMID:22587803

Circularly polarized luminescence of syndiotactic polystyrene

NASA Astrophysics Data System (ADS)

Rizzo, Paola; Abbate, Sergio; Longhi, Giovanna; Guerra, Gaetano

2017-11-01

Syndiotactic polystyrene (s-PS) films, when crystallized from the amorphous state by temporary sorption of non-racemic guest molecules (like carvone) not only exhibit unusually high optical activity, both in the UV-Visible and Infrared ranges, but also present circularly polarized luminescence (CPL) with high dissymmetry ratios (g = ΔI/I values in the range 0.02-0.03). Experimental evidences provide support, rather than to the usual molecular circular dichroism, to a supramolecular chiral optical response being extrinsic to the site of photon absorption and emission, possibly associated with a helical morphology of s-PS crystallites.

Aeolian Features of Scandia Cavi

NASA Image and Video Library

2015-09-30

This image from NASA Mars Reconnaissance Orbiter spacecraft shows modified barchan dunes with shapes that resemble raptor claws. The unusual morphology of these dunes suggests a limited supply of windblown sand. Winds likely blew from the northeast resulting in elongate dunes with an asymmetric downwind point. The transverse crests of the smaller ripples/mega-ripple bed-forms surrounding the dune, echo the dominant downwind direction towards the southwest. This locality is in the Northern Lowlands directly east of Dokka Crater in Scandia Cavi. http://photojournal.jpl.nasa.gov/catalog/PIA19962

Unusually large oilbodies are highly correlated with lower oil content in Brassica napus.

PubMed

Hu, Zhiyong; Wang, Xinfa; Zhan, Gaomiao; Liu, Guihua; Hua, Wei; Wang, Hanzhong

2009-04-01

Rapeseed cultivars exhibit a wide range of oil content in the mature seeds. Little is known about the relationship between the oilbody structures and the differences in oil contents of Brassica napus cultivars. In the present study, the oilbody morphology and its fate during the embryo development and seedling growth in several cultivars with oil contents ranging from 33.4 to 49.8% were studied. Cultivars with low oil contents (LO), some of the oilbodies were in similar size to those in cultivars with high oil content (HO), while some oilbodies in the LO cultivars were several times bigger (over 5.0 microm). These are much larger than the average size of B. napus seed oilbodies that were previously reported (Mantese et al. Ann Bot 97:999-1010, 2006). The oleosin protein levels and oleosin1 gene transcript abundances in the HO cultivars were clearly higher than in the LO cultivars. The shapes of oilbodies were similar during early stages of embryo development in both HO and LO cultivars, while as the embryos matured, the unusually large oilbodies were generated in the LO cells. After germination, the oilbodies in LO cultivars were consumed more slowly than in HO, and the seed germination rates of LO cultivars were less than those of HO cultivars. The low accumulation of oleosins results in the forming of unusually large oilbodies in LO cultivars.

Uniting Tricholoma sulphureum and T. bufonium.

PubMed

Comandini, Ornella; Haug, Ingeborg; Rinaldi, Andrea C; Kuyper, Thomas W

2004-10-01

The taxonomic status and relationship of Tricholoma sulphureum and the similar T. bufonium were investigated using different sets of characters. These included morphological data on fruit bodies, ecological and chorological data, and analysis of the sequence data obtained for the ITS of basidiomes of different ecological and geographic origin. Moreover, the ectomycorrhizas formed by T. bufonium on Abies alba and Quercus sp. were characterised, and anatomical features compared with those of T. sulphureum mycorrhizas on coniferous and broad-leaved host trees. Our results revealed extensive ITS variation in members of the T. sulphureum group, but this variation was not correlated with morphology, ecology, or geographical distribution. We conclude that T. bufonium cannot be maintained as an autonomous taxon and should be treated as an infraspecific variant of T. sulphureum.

[Characteristics of morphological manifestations of anaphylactic shock in response to the administration of pharmaceutical preparations encountered in the practice of forensic medical expert-histologist].

PubMed

Denisova, O P; Kul'bitskiĭ, B N; Putintsev, V A; Bogomolova, I N; Bogomolov, D V

2012-01-01

The authors report the results of a forensic medical investigation of 6 cases of death associated with the administration of pharmaceutical products documented by forensic medical experts of the Russian Centre of Forensic Medical Expertise. The results of the study are compared with the clinical data and summarized using the methods of tanatogenetic analysis. The following main clinical variants of iatrogenic anaphylactic shock (IAS) are distinguished: bronchospastic IAS (n = 1), asphyxic IAS (n = 1), hemodynamic IAS (n = 3), and combined (bronchospastic plus hemodynamic) IAS (n = 1). The signs of all these variants are described allowing for their diagnostics and differentiation diagnostics. These data can be used for the purpose of forensic medical diagnostics and elucidation of the mechanisms of tanatogenesis.

Characterization of coarse bainite transformation in low carbon steel during simulated welding thermal cycles

DOE Office of Scientific and Technical Information (OSTI.GOV)

Lan, Liangyun, E-mail: lanly@me.neu.edu.cn; State Key Laboratory of Rolling Technology and Automation, Northeastern University, Shenyang 110819; Kong, Xiangwei

2015-07-15

Coarse austenite to bainite transformation in low carbon steel under simulated welding thermal cycles was morphologically and crystallographically characterized by means of optical microscope, transmission electron microscope and electron backscattered diffraction technology. The results showed that the main microstructure changes from a mixture of lath martensite and bainitic ferrite to granular bainite with the increase in cooling time. The width of bainitic laths also increases gradually with the cooling time. For a welding thermal cycle with relatively short cooling time (e.g. t{sub 8/5} is 30 s), the main mode of variant grouping at the scale of individual prior austenite grainsmore » changes from Bain grouping to close-packed plane grouping with the progress of phase transformation, which results in inhomogeneous distribution of high angle boundaries. As the cooling time is increased, the Bain grouping of variants becomes predominant mode, which enlarges the effective grain size of product phase. - Highlights: • Main microstructure changes and the width of lath structure increases with cooling time. • Variant grouping changes from Bain zone to close-packed plane grouping with the transformation. • The change of variant grouping results in uneven distribution of high angle grain boundary. • Bain grouping is main mode for large heat input, which lowers the density of high angle boundary.« less

Use of whole exome sequencing for the identification of Ito-based arrhythmia mechanism and therapy.

PubMed

Sturm, Amy C; Kline, Crystal F; Glynn, Patric; Johnson, Benjamin L; Curran, Jerry; Kilic, Ahmet; Higgins, Robert S D; Binkley, Philip F; Janssen, Paul M L; Weiss, Raul; Raman, Subha V; Fowler, Steven J; Priori, Silvia G; Hund, Thomas J; Carnes, Cynthia A; Mohler, Peter J

2015-05-26

Identified genetic variants are insufficient to explain all cases of inherited arrhythmia. We tested whether the integration of whole exome sequencing with well-established clinical, translational, and basic science platforms could provide rapid and novel insight into human arrhythmia pathophysiology and disease treatment. We report a proband with recurrent ventricular fibrillation, resistant to standard therapeutic interventions. Using whole-exome sequencing, we identified a variant in a previously unidentified exon of the dipeptidyl aminopeptidase-like protein-6 (DPP6) gene. This variant is the first identified coding mutation in DPP6 and augments cardiac repolarizing current (Ito) causing pathological changes in Ito and action potential morphology. We designed a therapeutic regimen incorporating dalfampridine to target Ito. Dalfampridine, approved for multiple sclerosis, normalized the ECG and reduced arrhythmia burden in the proband by >90-fold. This was combined with cilostazol to accelerate the heart rate to minimize the reverse-rate dependence of augmented Ito. We describe a novel arrhythmia mechanism and therapeutic approach to ameliorate the disease. Specifically, we identify the first coding variant of DPP6 in human ventricular fibrillation. These findings illustrate the power of genetic approaches for the elucidation and treatment of disease when carefully integrated with clinical and basic/translational research teams. © 2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

Characterization of an Enterococcus faecium small-colony variant isolated from blood culture.

PubMed

Gröbner, Sabine; Beck, Julia; Schaller, Martin; Autenrieth, Ingo B; Schulte, Berit

2012-01-01

Small-colony variants (SCVs) of bacteria are slow-growing subpopulations which can cause latent or recurrent infections due to better intracellular survival compared to their wild-type counterparts. Atypical colony morphology and altered biochemical profile may lead to failure in identification of SCV strains. We here report for the first time the isolation of an Enterococcus faecium SCV phenotype. The case of a 65-year-old woman with acute myeloid leukaemia who developed symptoms of sepsis during induction chemotherapy is presented. E. faecium with normal and SCV phenotype was isolated from blood cultures. At the same time urine culture was positive with E. faecium suggesting that bacteraemia originated from the urinary tract. The SCV phenotype was characterized by atypical growth behaviour. Electron microscopic analyses revealed perturbation of the separation of daughter cells and the accumulation of cell wall material. Accordingly, the SCV variant showed a dysfunction or lack of spontaneous autolysis whereas the normal phenotype did not. In contrast to conventional identification systems based on biochemical characteristics, the E. faecium SCV was precisely identified by MALDI-TOF MS analysis implemented in our laboratory. Hence, the increasing use of MALDI-TOF MS analysis for the identification of bacteria might be an appropriate tool for the detection of SCV variants, the diagnosis of which is of importance for the clinical outcome and the antibiotic treatment. Copyright © 2011. Published by Elsevier GmbH.

The cytoplasmic expression of MUC1 in papillary thyroid carcinoma of different histological variants and its correlation with cyclin D1 overexpression.

PubMed

Abrosimov, Alexander; Saenko, Vladimir; Meirmanov, Serik; Nakashima, Masahiro; Rogounovitch, Tatiana; Shkurko, Olesya; Lushnikov, Eugeny; Mitsutake, Norisato; Namba, Hiroyuki; Yamashita, Shunichi

2007-01-01

This study addressed the immunohistochemical expression of MUC1 in papillary thyroid carcinoma (PTC) of different histotypes, sizes, and morphological features of aggressiveness, and its correlation with the overexpression of cyclin D1, a target molecule of the Wnt pathway. MUC1 expression was examined in a total of 209 PTCs. Cytoplasmic MUC1 expression was elevated in the tall, columnar cell and oncocytic variants (100%), Warthin-like (78%), and conventional PTCs (61%), and in papillary microcarcinoma (PMC) with the conventional growth pattern (52%). On the contrary, it was low in the follicular variant (27%) of PTC and PMCs with follicular architecture (13%). Cytoplasmic MUC1 accumulation did not associate with any clinicopathological features except peritumoral lymphoid infiltration in PTCs and in PMCs with the conventional growth pattern. MUC1 staining correlated with cyclin D1 overexpression in conventional PTCs and PMCs and PMCs with follicular architecture. The results demonstrate that MUC1 expression varies broadly in different histological variants of PTC, being the lowest in tumors with follicular structure. In general, it does not prove to be a prognosticator of PTC aggressiveness. A high correlation between MUC1 and cyclin D1 implies MUC1 involvement in the Wnt cascade functioning in a large subset of human PTCs and PMCs.

[The forensic medical assessment of the results of a study of laryngeal injuries in blunt trauma to the neck].

PubMed

Svetlakov, A V; Korenev, S A; Akishin, A N

1997-01-01

Presents the methodological principles and succession of examination of the basic formations of the larynx in cases with blunt injuries of the neck. Describes variants of anatomic structure of the sublingual bone and laryngeal cartilages influencing the morphology of injuries thereof. Offers differential diagnostic criteria of various mechanisms of fractures of the basic formations and recommendations on medical criminological assessment of laryngeal injuries.

Endodontic management of contralateral mandibular first molars with six root canals

PubMed Central

Bhargav, Kambhampati; Sirisha, Kantheti; Jyothi, Mandava; Boddeda, Mohan Rao

2017-01-01

The knowledge of variations in root canal morphology is essential for a successful endodontic outcome. Contralateral mandibular molar with six root canals is a rare entity. Root canal treatment of mandibular molars with aberrant canal configuration can be diagnostically and technically challenging. While dealing with variant mandibular molars, mishaps may happen. This case report describes variations in contralateral mandibular molars and also an endodontic mishap while managing them. PMID:29259369

Characterization of clinically isolated thymidine-dependent small-colony variants of Escherichia coli producing extended-spectrum β-lactamase.

PubMed

Negishi, Tatsuya; Matsumoto, Takehisa; Horiuchi, Kazuki; Kasuga, Eriko; Natori, Tatsuya; Matsuoka, Mina; Ogiwara, Naoko; Sugano, Mitsutoshi; Uehara, Takeshi; Nagano, Noriyuki; Honda, Takayuki

2018-01-01

Thymidine-dependent small-colony variants (TD-SCVs) are difficult to detect or test for antimicrobial susceptibility. We investigated the characteristics of clonal TD-SCVs of Escherichia coli, both with and without blaCTX-M-3, isolated from a patient. Mutation in the thyA gene was analysed by sequencing, and morphological abnormalities in the colonies and cells of the isolates were examined. Additionally, conjugational transfer experiments were performed to prove the horizontal transferability of plasmids harbouring resistance genes. The TD-SCVs contained a single nucleotide substitution in the thyA gene, c.62G>A, corresponding to p.Arg21His. Morphologically, their colonies were more translucent and flattened than those of the wild-type strain. In addition, cells of the TD-SCVs were swollen and elongated, sometimes with abnormal and incomplete divisions; a large amount of cell debris was also observed. Changing c.62G>A back to the wild-type sequence reversed these abnormalities. Conjugational transfer experiments showed that the TD-SCV of E. coli with blaCTX-M-3 failed to transfer blaCTX-M-3 to E. coli CSH2. However, the TD-SCV of E. coli without blaCTX-M-3 experimentally received the plasmid encoding blaSHV-18 from Klebsiella pneumoniae ATCC 700603 and transferred it to E. coli CSH2. Mutation in the thyA gene causes morphological abnormalities in the colonies and cells of E. coli, as well as inducing thymidine auxotrophy. In addition, TD-SCVs horizontally transmit plasmids encoding resistance genes. It is important to detect TD-SCVs based on their characteristics because they serve as reservoirs of transferable antibiotic resistance plasmids.

Micelle structure in a deep eutectic solvent: a small-angle scattering study.

PubMed

Sanchez-Fernandez, A; Edler, K J; Arnold, T; Heenan, R K; Porcar, L; Terrill, N J; Terry, A E; Jackson, A J

2016-05-18

In recent years many studies into green solvents have been undertaken and deep eutectic solvents (DES) have emerged as sustainable and green alternatives to conventional solvents since they may be formed from cheap non-toxic organic precursors. In this study we examine amphiphile behaviour in these novel media to test our understanding of amphiphile self-assembly within environments that have an intermediate polarity between polar and non-polar extremes. We have built on our recently published results to present a more detailed structural characterisation of micelles of sodium dodecylsulfate (SDS) within the eutectic mixture of choline chloride and urea. Here we show that SDS adopts an unusual cylindrical aggregate morphology, unlike that seen in water and other polar solvents. A new morphology transition to shorter aggregates was found with increasing concentration. The self-assembly of SDS was also investigated in the presence of water; which promotes the formation of shorter aggregates.

Development of the pseudothumb in frogs

PubMed Central

Tokita, Masayoshi; Iwai, Noriko

2010-01-01

Frogs have highly conserved hand and foot morphology, possessing four fingers and five toes. As an exception, two Japanese ranid frog species, the Otton frog Babina subaspera and the dagger frog Babina holsti, possess a unique thumb-like structure (the pseudothumb) in the forelimb, giving an appearance of a total of five fingers on the hand. To obtain insights into the developmental mechanisms that generate this novel character, we investigated the hand morphogenesis of the Otton frog. The unique morphological pattern of the pseudothumb was already established in juveniles. Surprisingly, the bud-like structure, which is similar to the area of inductive activity (e.g. feather buds in birds and the carapacial ridge in turtles), was detected over the site where the future prepollex develops in larvae. By contrast, this bud-like structure was not found in larvae of other ranid species. We discuss possible scenarios that would favour the evolution of this very unusual trait in frogs. PMID:20147308

Oxide nanomaterials: synthetic developments, mechanistic studies, and technological innovations.

PubMed

Patzke, Greta R; Zhou, Ying; Kontic, Roman; Conrad, Franziska

2011-01-24

Oxide nanomaterials are indispensable for nanotechnological innovations, because they combine an infinite variety of structural motifs and properties with manifold morphological features. Given that new oxide materials are almost reported on a daily basis, considerable synthetic and technological work remains to be done to fully exploit this ever increasing family of compounds for innovative nano-applications. This calls for reliable and scalable preparative approaches to oxide nanomaterials and their development remains a challenge for many complex nanostructured oxides. Oxide nanomaterials with special physicochemical features and unusual morphologies are still difficult to access by classic synthetic pathways. The limitless options for creating nano-oxide building blocks open up new technological perspectives with the potential to revolutionize areas ranging from data processing to biocatalysis. Oxide nanotechnology of the 21st century thus needs a strong interplay of preparative creativity, analytical skills, and new ideas for synergistic implementations. Copyright © 2011 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.